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 AXL 558 broad.mit.edu 37 19 41745081 41745081 + Missense_Mutation SNP A A G TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr19:41745081A>G ENST00000301178.4 + 9 1337 c.1147A>G c.(1147-1149)Ata>Gta p.I383V AXL_ENST00000593513.1_Missense_Mutation_p.I115V|AXL_ENST00000359092.3_Missense_Mutation_p.I383V NM_001278599.1|NM_021913.3 NP_001265528.1|NP_068713.2 P30530 UFO_HUMAN AXL receptor tyrosine kinase 383 Fibronectin type-III 2. integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 48 GCTAATGGACATAGGGCTAAG 0.572000 20 272 0 0 1 0 0 BTN2A3P 0 broad.mit.edu 37 6 26422353 26422353 + RNA SNP C C T rs141013110 TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr6:26422353C>T ENST00000466808.2 + 0 7 p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 13 739 0 0 1 0 0 TYROBP 7305 broad.mit.edu 37 19 36398352 36398352 + Silent SNP C C T TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr19:36398352C>T ENST00000585901.2 - 3 243 c.225G>A c.(223-225)gcG>gcA p.A75A TYROBP_ENST00000424586.3_Silent_p.A64A|TYROBP_ENST00000589517.1_Silent_p.A75A|TYROBP_ENST00000262629.4_Silent_p.A75A|TYROBP_ENST00000544690.2_Silent_p.A64A O43914 TYOBP_HUMAN TYRO protein tyrosine kinase binding protein 75 axon guidance|cell junction assembly|cellular defense response|intracellular signal transduction|regulation of immune response integral to plasma membrane|intracellular identical protein binding|receptor signaling protein activity NS(1)|central_nervous_system(1)|large_intestine(1)|lung(4)|skin(1) 8 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) ACTCACCCTCCGCAGCCCCTC 0.632000 28 536 0 0 1 0 0 KDR 3791 broad.mit.edu 37 4 55956204 55956204 + Silent SNP C C T rs147630437 TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr4:55956204C>T ENST00000263923.4 - 23 3406 c.3111G>A c.(3109-3111)tcG>tcA p.S1037S RP11-530I17.1_ENST00000511222.1_RNA NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 1037 Protein kinase. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) CGTTCTTCTCCGATAAGAGGA 0.428000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 36 446 0 0 1 0 0 ZCCHC3 85364 broad.mit.edu 37 20 279077 279077 + Missense_Mutation SNP C C T TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr20:279077C>T ENST00000382352.3 + 1 1341 c.850C>T c.(850-852)Ccg>Tcg p.P284S NM_033089.6 NP_149080.2 Q9NUD5 ZCHC3_HUMAN zinc finger, CCHC domain containing 3 284 nucleic acid binding|zinc ion binding endometrium(2)|large_intestine(1)|lung(3)|prostate(2) 8 all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.149) GCTGGCCGTGCCGGTGAAAGT 0.627000 6 568 0 0 1 0 0 RANBP2 5903 broad.mit.edu 37 2 109371498 109371498 + Silent SNP G G A TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr2:109371498G>A ENST00000283195.6 + 16 2466 c.2340G>A c.(2338-2340)ccG>ccA p.P780P NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 780 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 ATTCTACACCGTCTCCTACCA 0.353000 7 1140 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274319 39274319 + Missense_Mutation SNP G G C TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr17:39274319G>C ENST00000391413.2 - 1 287 c.249C>G c.(247-249)agC>agG p.S83R NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 83 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.S83R(1) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) GCTTGCAGCAGCTGGACACAC 0.662000 28 334 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105415037 105415037 + Missense_Mutation SNP G G T TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr14:105415037G>T ENST00000333244.5 - 7 6870 c.6751C>A c.(6751-6753)Ctc>Atc p.L2251I AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 2251 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GGGCCCTTGAGGTCCACTTTG 0.602000 6 591 1.49906e-05 1.54903e-05 1 1 0 ZNF155 7711 broad.mit.edu 37 19 44495748 44495748 + Missense_Mutation SNP C C G TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr19:44495748C>G ENST00000270014.2 + 3 192 c.64C>G c.(64-66)Ctg>Gtg p.L22V ZNF155_ENST00000407951.2_Missense_Mutation_p.L33V|ZNF155_ENST00000590615.1_Missense_Mutation_p.L22V NM_001260487.1|NM_198089.2 NP_001247416.1|NP_932355.2 Q12901 ZN155_HUMAN zinc finger protein 155 22 KRAB. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 15 Prostate(69;0.0352) TGAGGAGGAGCTGGGGCTGCT 0.532000 42 1271 0 0 1 0 0 PTBP2 58155 broad.mit.edu 37 1 97250690 97250690 + Missense_Mutation SNP G G C TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr1:97250690G>C ENST00000236228.6 + 8 866 c.784G>C c.(784-786)Gta>Cta p.V262L PTBP2_ENST00000370198.1_Missense_Mutation_p.V262L|PTBP2_ENST00000370197.1_Missense_Mutation_p.V262L|PTBP2_ENST00000541987.1_Missense_Mutation_p.V231L|PTBP2_ENST00000394184.3_Missense_Mutation_p.V273L|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000426398.2_Missense_Mutation_p.V262L NM_021190.2 NP_067013.1 Q9UKA9 PTBP2_HUMAN polypyrimidine tract binding protein 2 262 nucleotide binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1) 26 all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171) all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202) GAATTTGAATGTAAAATACAA 0.388000 24 434 0 0 1 0 0 ZNF70 7621 broad.mit.edu 37 22 24086567 24086567 + Missense_Mutation SNP C C G TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr22:24086567C>G ENST00000341976.3 - 2 1221 c.761G>C c.(760-762)tGt>tCt p.C254S NM_021916.2 NP_068735.1 Q9UC06 ZNF70_HUMAN zinc finger protein 70 254 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1) 21 ACATTCCTTACACTGATAAGG 0.512000 20 360 0 0 1 0 0 ZNF254 9534 broad.mit.edu 37 19 24310294 24310294 + Missense_Mutation SNP T T G TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr19:24310294T>G ENST00000357002.4 + 4 1607 c.1492T>G c.(1492-1494)Tct>Gct p.S498A ZNF254_ENST00000342944.6_Missense_Mutation_p.S413A NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2 NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3 O75437 ZN254_HUMAN zinc finger protein 254 498 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186) ATGTGGCAAATCTTTTAGCCA 0.408000 5 498 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18846006 18846006 + RNA SNP A A G TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr22:18846006A>G ENST00000412938.1 + 0 3364 GCGCAGGCCGACACTCACTGA 0.617000 10 469 0 0 1 0 0 TLK2 11011 broad.mit.edu 37 17 60689781 60689781 + Missense_Mutation SNP G G C TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr17:60689781G>C ENST00000582809.1 + 23 2364 c.1661G>C c.(1660-1662)cGa>cCa p.R554P TLK2_ENST00000346027.5_Missense_Mutation_p.R703P|TLK2_ENST00000343388.7_Missense_Mutation_p.R671P|TLK2_ENST00000542523.1_Missense_Mutation_p.R671P|TLK2_ENST00000326270.9_Missense_Mutation_p.R725P Q86UE8 TLK2_HUMAN tousled-like kinase 2 725 Protein kinase. cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus nucleus ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1) 39 TTGGCCTACCGAAAGGAGGAC 0.537000 7 755 0 0 1 0 0 SCNN1D 6339 broad.mit.edu 37 1 1225872 1225872 + Missense_Mutation SNP G G A TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr1:1225872G>A ENST00000338555.2 + 11 2448 c.1304G>A c.(1303-1305)cGc>cAc p.R435H SCNN1D_ENST00000325425.8_Missense_Mutation_p.R501H|SCNN1D_ENST00000400928.3_Missense_Mutation_p.R435H|SCNN1D_ENST00000379116.5_Missense_Mutation_p.R599H sodium channel, non-voltage-gated 1, delta subunit lung(6)|skin(1) 7 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199) TGCTTCTACCGCCTCTACCAG 0.667000 7 513 0 0 1 0 0 BMS1 9790 broad.mit.edu 37 10 43318597 43318597 + Missense_Mutation SNP A A G TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr10:43318597A>G ENST00000374518.4 + 20 3227 c.3164A>G c.(3163-3165)aAa>aGa p.K1055R NM_014753.3 NP_055568.3 Q14692 BMS1_HUMAN BMS1 ribosome biogenesis factor 1055 ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 GAAGTGGCCAAATTTGAAGGT 0.428000 6 742 0 0 1 0 0 KRTAP1-1 81851 broad.mit.edu 37 17 39197393 39197393 + Missense_Mutation SNP T T C TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr17:39197393T>C ENST00000306271.4 - 1 320 c.257A>G c.(256-258)tAc>tGc p.Y86C NM_030967.2 NP_112229.1 Q07627 KRA11_HUMAN keratin associated protein 1-1 86 Missing (in allele KAP1.7). extracellular region|keratin filament p.Y86C(4) NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1) 14 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) GCTGGTCTGGTAGCAGCTTGG 0.587000 9 417 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628299 29628299 + Missense_Mutation SNP A A G TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr20:29628299A>G ENST00000278882.3 + 6 681 c.301A>G c.(301-303)Agt>Ggt p.S101G FRG1B_ENST00000439954.2_Missense_Mutation_p.S106G|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101G endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AGAAGCAAAAAGTAAAACAGC 0.363000 12 743 0 0 1 0 0 ASTN2 23245 broad.mit.edu 37 9 119188282 119188282 + Missense_Mutation SNP C C T TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr9:119188282C>T ENST00000313400.4 - 23 3968 c.3868G>A c.(3868-3870)Gtg>Atg p.V1290M ASTN2_ENST00000288520.5_Missense_Mutation_p.V391M|ASTN2_ENST00000361477.3_Missense_Mutation_p.V342M|ASTN2_ENST00000361209.2_Missense_Mutation_p.V1239M|ASTN2_ENST00000341734.4_Missense_Mutation_p.V342M|ASTN2_ENST00000373996.3_Missense_Mutation_p.V1286M O75129 ASTN2_HUMAN astrotactin 2 1290 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 ACTGTTTCCACGCGGCTCTGG 0.582000 12 211 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 33999485 33999485 + Missense_Mutation SNP C C T TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr1:33999485C>T ENST00000373381.4 - 63 10078 c.9902G>A c.(9901-9903)cGt>cAt p.R3301H NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 3157 integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TTTTTGACAACGGAAGAGGAC 0.562000 16 218 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7721648 7721648 + Missense_Mutation SNP G G A TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr17:7721648G>A ENST00000572933.1 + 69 11866 c.10406G>A c.(10405-10407)cGc>cAc p.R3469H DNAH2_ENST00000389173.2_Missense_Mutation_p.R3469H Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 3469 AAA 5 (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) CTGTTGATGCGCATTGGCGAT 0.567000 8 1090 0 0 1 0 0 TCP10 6953 broad.mit.edu 37 6 167789540 167789540 + Missense_Mutation SNP G G A rs28637384 TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr6:167789540G>A ENST00000366827.2 - 6 813 c.602C>T c.(601-603)cCg>cTg p.P201L TCP10_ENST00000397829.4_Missense_Mutation_p.P201L Q12799 TCP10_HUMAN t-complex 10 228 cytosol NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6) 18 Breast(66;1.53e-05)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386) GGAGTTTTGCGGACTTCGGGA 0.612000 5 206 0 0 1 0 0 MELK 9833 broad.mit.edu 37 9 36670999 36670999 + Missense_Mutation SNP C C T TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr9:36670999C>T ENST00000543751.1 + 15 1559 c.1414C>T c.(1414-1416)Cgc>Tgc p.R472C MELK_ENST00000545008.1_Missense_Mutation_p.R433C|MELK_ENST00000536329.1_Missense_Mutation_p.R433C|MELK_ENST00000536987.1_Missense_Mutation_p.R373C|MELK_ENST00000541717.1_Missense_Mutation_p.R463C|MELK_ENST00000536860.1_Missense_Mutation_p.R456C|MELK_ENST00000298048.2_Missense_Mutation_p.R504C|MELK_ENST00000538311.1_Missense_Mutation_p.R310C NM_001256689.1 NP_001243618.1 Q14680 MELK_HUMAN maternal embryonic leucine zipper kinase 504 cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity p.R504C(2) breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2) 29 Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06) STAD - Stomach adenocarcinoma(86;0.228) TTTCAGGTGCCGCTCAGTGGA 0.488000 29 486 0 0 1 0 0 ALDH1A3 220 broad.mit.edu 37 15 101438319 101438319 + Missense_Mutation SNP G G A rs147665432 TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr15:101438319G>A ENST00000329841.5 + 8 1344 c.812G>A c.(811-813)cGg>cAg p.R271Q RP11-66B24.4_ENST00000560351.1_RNA|ALDH1A3_ENST00000346623.6_Missense_Mutation_p.R164Q NM_000693.2 NP_000684.2 P47895 AL1A3_HUMAN aldehyde dehydrogenase 1 family, member A3 271 retinal metabolic process cytoplasm aldehyde dehydrogenase|protein homodimerization activity NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 27 Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103) NADH(DB00157)|Vitamin A(DB00162) GCTGCGTCCCGGAGCAATCTG 0.557000 29 321 0 0 1 0 0 PCDHGA8 0 broad.mit.edu 37 5 140774356 140774356 + Missense_Mutation SNP C C T TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr5:140774356C>T ENST00000398604.2 + 1 1976 c.1976C>T c.(1975-1977)aCg>aTg p.T659M PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron NM_032088.1 NP_114477.1 endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 51 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCACTGTCACGCTCACCGTA 0.642000 18 310 0 0 1 0 0 MST1L 0 broad.mit.edu 37 1 17083837 17083837 + RNA SNP T T C rs7798 by1000genomes TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr1:17083837T>C ENST00000455405.2 - 0 751 CTAATTCCTTTCAGGACCCAG 0.572000 5 224 0 0 1 0 0 RALGAPA2 57186 broad.mit.edu 37 20 20493321 20493321 + Missense_Mutation SNP A A C TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr20:20493321A>C ENST00000202677.6 - 32 4834 c.4692T>G c.(4690-4692)atT>atG p.I1564M NM_020343.3 NP_065076.2 Q2PPJ7 RGPA2_HUMAN Ral GTPase activating protein, alpha subunit 2 (catalytic) 1564 activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 54 TTTGGCGCAAAATGACCTCAA 0.473000 21 345 0 0 1 0 0 PIGS 94005 broad.mit.edu 37 17 26881272 26881272 + Missense_Mutation SNP C C T TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr17:26881272C>T ENST00000308360.7 - 12 2009 c.1634G>A c.(1633-1635)cGc>cAc p.R545H PIGS_ENST00000395346.2_Missense_Mutation_p.R537H|PIGS_ENST00000543734.1_Missense_Mutation_p.R484H NM_033198.3 NP_149975.1 Q96S52 PIGS_HUMAN phosphatidylinositol glycan anchor biosynthesis, class S 545 attachment of GPI anchor to protein|C-terminal protein lipidation GPI-anchor transamidase complex protein binding breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Lung NSC(42;0.00431) CCAGGACTTGCGGGTCTCCAG 0.547000 5 546 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274311 39274311 + Missense_Mutation SNP T T C rs425755 by1000genomes TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr17:39274311T>C ENST00000391413.2 - 1 295 c.257A>G c.(256-258)aAg>aGg p.K86R NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 86 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.K86R(1) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) GCACTGGGGCTTGCAGCAGCT 0.657000 13 338 0 0 1 0 0 GRIK3 2899 broad.mit.edu 37 1 37282815 37282815 + Missense_Mutation SNP G G A TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr1:37282815G>A ENST00000373091.3 - 13 1953 c.1937C>T c.(1936-1938)aCg>aTg p.T646M GRIK3_ENST00000373093.4_Missense_Mutation_p.T646M NM_000831.3 NP_000822.2 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 646 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) GATGATGAGCGTGAAGAACCA 0.547000 31 463 0 0 1 0 0 KIAA0754 643314 broad.mit.edu 37 1 39879250 39879250 + Missense_Mutation SNP A A G rs783822 by1000genomes TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr1:39879250A>G ENST00000530275.1 + 1 3100 c.2905A>G c.(2905-2907)Acc>Gcc p.T969A MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000567887.1_Intron NM_015038.1 NP_055853.1 O94854 K0754_HUMAN KIAA0754 969 Ala-rich. T -> A (in dbSNP:rs783822). central_nervous_system(1)|large_intestine(6)|skin(1) 8 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) AGAGGAGCCCACCTCCCCAGC 0.726000 5 98 0 0 1 0 0 ALG1L2 0 broad.mit.edu 37 3 129817138 129817138 + RNA SNP G G A TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr3:129817138G>A ENST00000507643.1 + 0 720 C9J202 AG1L2_HUMAN biosynthetic process transferase activity, transferring glycosyl groups AGAACCTGCGGGAGTCGCAGC 0.522000 5 331 0 0 1 0 0 DDX10 1662 broad.mit.edu 37 11 108546412 108546412 + Missense_Mutation SNP G G A TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr11:108546412G>A ENST00000526794.1 + 3 369 c.337G>A c.(337-339)Gcc>Acc p.A113T DDX10_ENST00000322536.3_Missense_Mutation_p.A113T Q13206 DDX10_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 113 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity p.A113T(1) breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2) 27 all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729) BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133) ACTTGGAGCGGCCAAAACTGG 0.438000 T NUP98 AML* 5 525 0 0 1 0 0 RPS12 6206 broad.mit.edu 37 6 133138134 133138134 + Silent SNP C C G rs146638149 TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr6:133138134C>G ENST00000230050.3 + 5 480 c.270C>G c.(268-270)ggC>ggG p.G90G NM_001016.3 NP_001007.2 P25398 RS12_HUMAN ribosomal protein S12 90 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit structural constituent of ribosome endometrium(1)|kidney(13)|lung(3)|urinary_tract(1) 18 Breast(56;0.214) OV - Ovarian serous cystadenocarcinoma(155;0.00284)|GBM - Glioblastoma multiforme(226;0.0256) AATGGGTAGGCCTTTGTAAAA 0.358000 7 461 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 3165343 3165343 + Splice_Site SNP G G A TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr8:3165343G>A ENST00000520002.1 - 26 4382 c.3826_splice c.e26-1 p.A1276_splice CSMD1_ENST00000602723.1_Splice_Site_p.A1276_splice|CSMD1_ENST00000400186.3_Splice_Site_p.A1276_splice|CSMD1_ENST00000602557.1_Splice_Site_p.A1276_splice|CSMD1_ENST00000542608.1_Splice_Site_p.A1275_splice|CSMD1_ENST00000539096.1_Splice_Site_p.A1275_splice|CSMD1_ENST00000537824.1_Splice_Site_p.A1275_splice Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 1276 Sushi 7. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) ACCACATTCCGCTGTAGAAGA 0.448000 30 381 0 0 1 0 0 PBX2 5089 broad.mit.edu 37 6 32155509 32155509 + Missense_Mutation SNP T T A TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr6:32155509T>A ENST00000375050.4 - 5 1055 c.785A>T c.(784-786)tAt>tTt p.Y262F NM_002586.4 NP_002577.2 P40425 PBX2_HUMAN pre-B-cell leukemia homeobox 2 262 transcription factor binding p.Y262F(3) endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2) 14 GGAGTAGAAATACTCATTTAG 0.517000 4 115 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522815 95522815 + RNA SNP A A G TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr2:95522815A>G ENST00000432432.2 - 0 212 NR_040113.1 ATCTTCTGCAATTCGGAGTCC 0.652000 8 424 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625941 29625941 + Missense_Mutation SNP A A T TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr20:29625941A>T ENST00000278882.3 + 5 565 c.185A>T c.(184-186)gAt>gTt p.D62V FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V|FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V p.D62V(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGCATTCAGATGCAATTGGA 0.333000 26 580 0 0 1 0 0 SPATA31D5P 0 broad.mit.edu 37 9 84533044 84533044 + RNA SNP T T C rs530720 by1000genomes TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr9:84533044T>C ENST00000527857.1 + 0 3066 NR_026851.1 TTTTCTGATATTGACCATGAC 0.458000 5 209 0 0 1 0 0 COL5A1 1289 broad.mit.edu 37 9 137658318 137658318 + Missense_Mutation SNP G G C TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr9:137658318G>C ENST00000371817.3 + 22 2521 c.2107G>C c.(2107-2109)Ggc>Cgc p.G703R NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 703 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) GGGTATGGACGGCCAGCCGGG 0.542000 10 224 0 0 1 0 0 POLM 27434 broad.mit.edu 37 7 44112788 44112788 + Missense_Mutation SNP T T G TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr7:44112788T>G ENST00000395831.3 - 9 1446 c.1400A>C c.(1399-1401)cAc>cCc p.H467P POLM_ENST00000242248.5_3'UTR|POLM_ENST00000335195.6_3'UTR Q9NP87 DPOLM_HUMAN polymerase (DNA directed), mu 0 DNA recombination|DNA repair nucleus DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2) 22 CGGGGAGGGGTGAAGGTGGGG 0.632000 DNA polymerases (catalytic subunits) 15 54 0 0 1 0 0 ZNF578 147660 broad.mit.edu 37 19 53015104 53015104 + Missense_Mutation SNP G G C TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr19:53015104G>C ENST00000421239.2 + 6 1714 c.1470G>C c.(1468-1470)aaG>aaC p.K490N CTD-3099C6.5_ENST00000599143.1_RNA NM_001099694.1 NP_001093164.1 Q96N58 ZN578_HUMAN zinc finger protein 578 265 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01) AGTGTCACAAGACCTTCAGTC 0.393000 9 498 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664141 22664141 + RNA SNP G G A TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr22:22664141G>A ENST00000426066.1 + 0 664 NR_027293.1 AAATTTGAAGGTGCTGTGATT 0.448000 6 683 0 0 1 0 0 NACA 4666 broad.mit.edu 37 12 57111378 57111378 + Silent SNP A A G TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr12:57111378A>G ENST00000454682.1 - 3 4217 c.3936T>C c.(3934-3936)ccT>ccC p.P1312P NACA_ENST00000393891.4_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 TTGCAGCTGGAGGAGTGGGGG 0.647000 T BCL6 NHL 11 444 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186275982 186275982 + Silent SNP C C T TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr1:186275982C>T ENST00000445192.2 + 7 1176 c.1131C>T c.(1129-1131)acC>acT p.T377T PRG4_ENST00000367483.4_Silent_p.T336T|PRG4_ENST00000367485.4_Silent_p.T284T|PRG4_ENST00000367484.3_Silent_p.T336T|PRG4_ENST00000367486.3_Silent_p.T334T NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 377 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CACCCACCACCCCCAAGGAGC 0.637000 7 1151 0 0 1 0 0 HAP1 9001 broad.mit.edu 37 17 39883349 39883349 + Silent SNP C C T TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr17:39883349C>T ENST00000393939.2 - 8 1257 c.1248G>A c.(1246-1248)acG>acA p.T416T JUP_ENST00000540235.1_Intron|HAP1_ENST00000347901.4_Silent_p.T441T|HAP1_ENST00000310778.5_Silent_p.T493T|HAP1_ENST00000341193.5_Silent_p.T424T P54257 HAP1_HUMAN huntingtin-associated protein 1 418 Glu-rich.|HAP1 N-terminal. brain development|protein localization|synaptic transmission actin cytoskeleton protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1) 21 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.0677) TCCTTAGAGACGTTCTGAGCT 0.577000 4 59 0 0 1 0 0 PTK2B 2185 broad.mit.edu 37 8 27288476 27288476 + Silent SNP C C T TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr8:27288476C>T ENST00000397501.1 + 13 1561 c.753C>T c.(751-753)ttC>ttT p.F251F PTK2B_ENST00000544172.1_Silent_p.F251F|PTK2B_ENST00000397497.4_5'UTR|PTK2B_ENST00000420218.2_Silent_p.F251F|PTK2B_ENST00000517339.1_Silent_p.F251F|PTK2B_ENST00000346049.5_Silent_p.F251F|PTK2B_ENST00000338238.4_Silent_p.F251F NM_173174.2 NP_775266.1 Q14289 FAK2_HUMAN protein tyrosine kinase 2 beta 251 FERM. apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Ovarian(32;2.72e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229) TGAAGTTCTTCAACACTCTCG 0.577000 28 483 0 0 1 0 0 VN1R4 317703 broad.mit.edu 37 19 53770125 53770125 + Missense_Mutation SNP A A G TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr19:53770125A>G ENST00000311170.4 - 1 847 c.794T>C c.(793-795)tTa>tCa p.L265S NM_173857.2 NP_776256.2 Q7Z5H5 VN1R4_HUMAN vomeronasal 1 receptor 4 265 response to pheromone actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane pheromone receptor activity central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 22 GBM - Glioblastoma multiforme(134;0.00294) GTTCACCAGTAAACTATTGGG 0.453000 HNSCC(26;0.072) 11 301 0 0 1 0 0 ASB15 142685 broad.mit.edu 37 7 123270139 123270139 + Silent SNP A A G TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr7:123270139A>G ENST00000451558.1 + 13 2081 c.1560A>G c.(1558-1560)gtA>gtG p.V520V ASB15_ENST00000434204.1_Silent_p.V520V|ASB15_ENST00000540573.1_Silent_p.V520V|ASB15_ENST00000275699.3_Silent_p.V520V|ASB15_ENST00000451215.1_Silent_p.V520V Q8WXK1 ASB15_HUMAN ankyrin repeat and SOCS box containing 15 520 intracellular signal transduction breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3) 12 CACTAGAAGTACAGAGAGAAT 0.368000 24 327 0 0 1 0 0 CACNA2D3 55799 broad.mit.edu 37 3 54798357 54798357 + Silent SNP C C T TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr3:54798357C>T ENST00000474759.1 + 13 1407 c.1359C>T c.(1357-1359)acC>acT p.T453T CACNA2D3_ENST00000288197.5_Silent_p.T453T|CACNA2D3_ENST00000490478.1_Silent_p.T359T|CACNA2D3_ENST00000415676.2_Silent_p.T453T NM_018398.2 NP_060868.2 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 3 453 Cache. integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) TGGTGTGGACCGAAGCTTACA 0.507000 30 432 0 0 1 0 0 POM121L9P 0 broad.mit.edu 37 22 24659578 24659578 + RNA SNP A A G TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr22:24659578A>G ENST00000414583.2 + 0 3103 NR_003714.1 TGCGCAGGCCAACACTCACTG 0.617000 8 172 0 0 1 0 0 EFS 0 broad.mit.edu 37 14 23828664 23828664 + Silent SNP T T G TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr14:23828664T>G ENST00000216733.3 - 4 1630 c.1023A>C c.(1021-1023)ccA>ccC p.P341P EFS_ENST00000351354.3_Silent_p.P248P|EFS_ENST00000429593.2_Silent_p.P172P NM_005864.2 NP_005855.1 O43281 EFS_HUMAN embryonal Fyn-associated substrate 341 Pro-rich. cell adhesion|intracellular signal transduction cytoplasm SH3 domain binding endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2) 16 all_cancers(95;7.12e-06) GBM - Glioblastoma multiforme(265;0.00649) GCAGGCGGGGTGGGGGTGGGG 0.697000 30 343 0 0 1 0 0 SSTR1 0 broad.mit.edu 37 14 38679763 38679763 + Missense_Mutation SNP C C G TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr14:38679763C>G ENST00000267377.2 + 3 1786 c.1169C>G c.(1168-1170)aCg>aGg p.T390R NM_001049.2 NP_001040.1 P30872 SSR1_HUMAN somatostatin receptor 1 390 digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient integral to plasma membrane somatostatin receptor activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00444) Octreotide(DB00104) CGGATCACGACGCTCTGAGCC 0.657000 5 264 0 0 1 0 0 SNHG14 0 broad.mit.edu 37 15 25324229 25324229 + RNA SNP G G T TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr15:25324229G>T ENST00000549804.2 + 0 1377 SNORD116-13_ENST00000384408.1_RNA TTCCATACATGCATTCCTTGG 0.418000 43 703 9.85913e-13 1.04193e-12 1 1 0 SDHAP1 0 broad.mit.edu 37 3 195690149 195690149 + RNA SNP A A G TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr3:195690149A>G ENST00000427841.1 - 0 2325 NR_003264.2 TGACACATGCATGAGCTATTA 0.498000 14 73 0 0 1 0 0 GLRA2 2742 broad.mit.edu 37 X 14708830 14708830 + Splice_Site SNP A A T TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chrX:14708830A>T ENST00000218075.4 + 8 1460 c.e8-1 GLRA2_ENST00000443437.2_Splice_Site|GLRA2_ENST00000355020.4_Splice_Site NM_002063.3 NP_002054.1 P23416 GLRA2_HUMAN glycine receptor, alpha 2 neuropeptide signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2) 37 Hepatocellular(33;0.128) Ethanol(DB00898)|Glycine(DB00145) tctctctctcAGGTCTCCTAT 0.483000 5 333 0 0 1 0 0 ZBTB3 79842 broad.mit.edu 37 11 62519604 62519604 + Silent SNP C C T TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr11:62519604C>T ENST00000394807.3 - 2 1808 c.1683G>A c.(1681-1683)ggG>ggA p.G561G NM_024784.3 NP_079060.1 Q9H5J0 ZBTB3_HUMAN zinc finger and BTB domain containing 3 561 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2) 24 CTTTAGGTGGCCCTCCACCAC 0.537000 20 337 0 0 1 0 0 ZC2HC1A 51101 broad.mit.edu 37 8 79627512 79627512 + Missense_Mutation SNP C C T TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr8:79627512C>T ENST00000263849.4 + 8 863 c.761C>T c.(760-762)cCa>cTa p.P254L NM_016010.2 NP_057094.2 Q96GY0 F164A_HUMAN zinc finger, C2HC-type containing 1A 254 AATCCTGCCCCAGGTGTGCTT 0.368000 16 277 0 0 1 0 0 SLC12A3 0 broad.mit.edu 37 16 56920970 56920970 + Missense_Mutation SNP G G A TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr16:56920970G>A ENST00000438926.2 + 17 2172 c.2143G>A c.(2143-2145)Gag>Aag p.E715K SLC12A3_ENST00000262502.5_Missense_Mutation_p.E714K|SLC12A3_ENST00000566786.1_Missense_Mutation_p.E714K|SLC12A3_ENST00000563236.1_Missense_Mutation_p.E715K NM_000339.2|NM_001126107.1|NM_001126108.1 NP_000330.2|NP_001119579.1|NP_001119580.1 P55017 S12A3_HUMAN solute carrier family 12 (sodium/chloride transporter), member 3 715 sodium ion transmembrane transport apical plasma membrane|integral to plasma membrane|membrane fraction sodium:chloride symporter activity breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325) TGTCATTGCCGAGGACCTCCG 0.587000 22 452 0 0 1 0 0 DUSP16 80824 broad.mit.edu 37 12 12629995 12629995 + Silent SNP G G A rs145763524 TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr12:12629995G>A ENST00000228862.2 - 7 2401 c.1770C>T c.(1768-1770)tgC>tgT p.C590C DUSP16_ENST00000298573.4_3'UTR NM_030640.2 NP_085143.1 Q9BY84 DUS16_HUMAN dual specificity phosphatase 16 590 inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive cytoplasmic membrane-bounded vesicle|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3) 26 Prostate(47;0.0687) BRCA - Breast invasive adenocarcinoma(232;0.0203) CTTGGTCTCCGCAAGTGGGCA 0.562000 8 749 0 0 1 0 0 OR8K5 219453 broad.mit.edu 37 11 55927158 55927158 + Silent SNP C C T TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr11:55927158C>T ENST00000313447.1 - 1 635 c.636G>A c.(634-636)ctG>ctA p.L212L NM_001004058.2 NP_001004058.2 Q8NH50 OR8K5_HUMAN olfactory receptor, family 8, subfamily K, member 5 212 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 34 Esophageal squamous(21;0.00693) Lung NSC(402;0.197)|all_epithelial(135;0.236) CTAAGACTATCAGAAAGGAGG 0.378000 20 305 0 0 1 0 0 KCNB1 3745 broad.mit.edu 37 20 47990860 47990860 + Missense_Mutation SNP C C T TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr20:47990860C>T ENST00000371741.4 - 2 1403 c.1237G>A c.(1237-1239)Gtc>Atc p.V413I NM_004975.2 NP_004966.1 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 1 413 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) AAGTTATTGACGATGATGGGG 0.507000 17 466 0 0 1 0 0 CCDC147 159686 broad.mit.edu 37 10 106207500 106207500 + Silent SNP C C T TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr10:106207500C>T ENST00000369704.3 + 16 2435 c.2301C>T c.(2299-2301)cgC>cgT p.R767R NM_001008723.1 NP_001008723.1 Q5T655 CC147_HUMAN coiled-coil domain containing 147 767 NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189) TCTTGGCCCGCCAGCCTGGAC 0.537000 29 287 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522786 95522786 + RNA SNP T T C TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr2:95522786T>C ENST00000432432.2 - 0 241 NR_040113.1 p.K44K(1) CGGCGTCGCCTTTGACAGCTG 0.687000 9 393 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162513 90162513 + RNA SNP T T C TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr16:90162513T>C ENST00000567960.1 + 0 1249 TUBB8P7_ENST00000564451.1_RNA p.N415N(2) GCAACATGAATGACCTGGTGT 0.537000 10 707 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625971 29625971 + Missense_Mutation SNP C C A rs145033899 TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr20:29625971C>A ENST00000278882.3 + 5 595 c.215C>A c.(214-216)cCa>cAa p.P72Q FRG1B_ENST00000439954.2_Missense_Mutation_p.P77Q|FRG1B_ENST00000358464.4_Missense_Mutation_p.P72Q endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 CAATGGGAACCAGTCTTTCAA 0.328000 8 660 5.16669e-11 5.41919e-11 1 1 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664186 22664186 + RNA SNP A A G TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr22:22664186A>G ENST00000426066.1 + 0 709 NR_027293.1 CAGATCAAGAAAGCACTCTGA 0.498000 5 581 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100682158 100682158 + Missense_Mutation SNP G G C rs147944556 TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr7:100682158G>C ENST00000306151.4 + 3 7525 c.7461G>C c.(7459-7461)atG>atC p.M2487I NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2487 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GCACACCTATGACCACTTCTA 0.493000 11 2627 0 0 1 0 0 BDP1 55814 broad.mit.edu 37 5 70840231 70840231 + Missense_Mutation SNP C C A TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr5:70840231C>A ENST00000358731.4 + 31 6723 c.6460C>A c.(6460-6462)Ctc>Atc p.L2154I BDP1_ENST00000380675.2_Missense_Mutation_p.L290I NM_018429.2 NP_060899.2 A6H8Y1 BDP1_HUMAN B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB 2154 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) AAATAAAAACCTCGGACCAGT 0.358000 41 505 1.7489e-18 1.86238e-18 1 1 0 DDO 8528 broad.mit.edu 37 6 110714483 110714483 + Missense_Mutation SNP G G A TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr6:110714483G>A ENST00000368924.3 - 5 620 c.605C>T c.(604-606)cCg>cTg p.P202L DDO_ENST00000368923.3_Missense_Mutation_p.P143L|DDO_ENST00000368925.1_Missense_Mutation_p.P174L NM_003649.2 NP_003640.2 Q99489 OXDD_HUMAN D-aspartate oxidase 174 aspartate catabolic process peroxisome binding|D-amino-acid oxidase activity|D-aspartate oxidase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3) 24 all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327) all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046) GTCAAAGGACGGATGAAGTTC 0.502000 57 941 0 0 1 0 0 TRIOBP 11078 broad.mit.edu 37 22 38119859 38119859 + Silent SNP C C T rs66505048 TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr22:38119859C>T ENST00000406386.3 + 7 1551 c.1296C>T c.(1294-1296)tgC>tgT p.C432C RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 432 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding p.C432C(6) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) GAACATCCTGCGCCCAGCGGG 0.582000 10 853 0 0 1 0 0 ZNF844 284391 broad.mit.edu 37 19 12187275 12187275 + Missense_Mutation SNP G G C TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr19:12187275G>C ENST00000439326.3 + 4 1515 c.1340G>C c.(1339-1341)cGt>cCt p.R447P ZNF844_ENST00000441304.2_3'UTR NM_001136501.1 NP_001129973.1 Q08AG5 ZN844_HUMAN zinc finger protein 844 447 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R447P(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1) 10 GAGAGAAACCGTATGAGTGTA 0.433000 5 479 0 0 1 0 0 IGHA2 0 broad.mit.edu 37 14 106054661 106054661 + RNA SNP G G A TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr14:106054661G>A ENST00000390539.2 - 0 71 CCAGGCATGCGACGACCACGT 0.632000 8 346 0 0 1 0 0 C4orf21 55345 broad.mit.edu 37 4 113460845 113460845 + Splice_Site SNP C C T TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr4:113460845C>T ENST00000505019.1 - 28 6298 c.6172_splice c.e28-1 p.G2058_splice RP11-402J6.1_ENST00000504009.1_RNA NM_018392.4 NP_060862.3 Q86YA3 CD021_HUMAN chromosome 4 open reading frame 21 0 breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000676) ATCTTCCCTTCCTTAAAAAAA 0.373000 11 109 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11058327 11058327 + RNA SNP A A T TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr21:11058327A>T 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) CACATCGCTGAAAGGGGTAAA 0.378000 31 984 0 0 1 0 0 RET 5979 broad.mit.edu 37 10 43596003 43596003 + Missense_Mutation SNP G G A TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr10:43596003G>A ENST00000355710.3 + 2 402 c.170G>A c.(169-171)cGg>cAg p.R57Q RET_ENST00000340058.5_Missense_Mutation_p.R57Q NM_020975.4 NP_066124.1 P07949 RET_HUMAN ret proto-oncogene 57 homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity CCDC6/RET(4)|KIF5B/RET(79) NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1) 607 Ovarian(717;0.0423) Sunitinib(DB01268) CATGCCCTGCGGGACGCCCCT 0.622000 1 """T, Mis, N, F""" """H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6""" """medullary thyroid, papillary thyroid, pheochromocytoma, NSCLC""" """medullary thyroid, papillary thyroid, pheochromocytoma""" Hirschsprung disease Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma 13 248 0 0 1 0 0 PCDHGB7 0 broad.mit.edu 37 5 140797472 140797472 + Missense_Mutation SNP G G A TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr5:140797472G>A ENST00000398594.2 + 1 46 c.46G>A c.(46-48)Gta>Ata p.V16I PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron NM_018927.3 NP_061750.1 central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3) 56 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) cccgcggcAGGTACTATTTCC 0.642000 OREG0016863 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 70 0 0 1 0 0 HOXD1 3231 broad.mit.edu 37 2 177054575 177054575 + Missense_Mutation SNP C C T TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr2:177054575C>T ENST00000331462.4 + 2 915 c.692C>T c.(691-693)gCg>gTg p.A231V NM_024501.1 NP_078777.1 Q9GZZ0 HXD1_HUMAN homeobox D1 231 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226) Colorectal(32;0.0226) CCCTCCAGCGCGATCCGCACG 0.557000 15 972 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100350361 100350361 + RNA SNP T T C TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr7:100350361T>C ENST00000542585.1 + 0 2781 ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) ACGGAAAAACTCACCATCCCC 0.502000 10 991 0 0 1 0 0 NXPH1 30010 broad.mit.edu 37 7 8790918 8790918 + Missense_Mutation SNP C C T TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr7:8790918C>T ENST00000405863.1 + 3 1246 c.335C>T c.(334-336)aCg>aTg p.T112M NXPH1_ENST00000602349.1_5'UTR|NXPH1_ENST00000497400.1_3'UTR NM_152745.2 NP_689958.1 P58417 NXPH1_HUMAN neurexophilin 1 112 III. extracellular region breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1) 17 Ovarian(82;0.0628) UCEC - Uterine corpus endometrioid carcinoma (126;0.101) ATTGTTAAAACGGGCAAGTTT 0.473000 29 398 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37431050 37431050 + Missense_Mutation SNP G G C TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr10:37431050G>C ENST00000374660.1 + 7 1156 c.1057G>C c.(1057-1059)Gca>Cca p.A353P ANKRD30A_ENST00000602533.1_Missense_Mutation_p.A353P|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.A353P Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 409 nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.A353P(1) NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 ATTTACGTGGGCAGCAAAAGG 0.408000 6 860 0 0 1 0 0 PROP1 5626 broad.mit.edu 37 5 177419755 177419755 + Silent SNP A A G TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr5:177419755A>G ENST00000308304.2 - 3 944 c.636T>C c.(634-636)ccT>ccC p.P212P NM_006261.4 NP_006252.3 O75360 PROP1_HUMAN PROP paired-like homeobox 1 212 central nervous system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(2)|lung(9)|stomach(1) 13 all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGAGCATGGGAGGGGGTGGGG 0.622000 5 95 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37028425 37028425 + Missense_Mutation SNP A A G rs145580328 byFrequency TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chrX:37028425A>G ENST00000358047.3 + 1 1994 c.1942A>G c.(1942-1944)Aat>Gat p.N648D NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 648 p.N648D(7) breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 GGAGCCTCCCAATACTGGAGT 0.642000 9 1000 0 0 1 0 0 SEC63 11231 broad.mit.edu 37 6 108214765 108214765 + Nonsense_Mutation SNP A A T TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr6:108214765A>T ENST00000369002.4 - 16 1774 c.1595T>A c.(1594-1596)tTa>tAa p.L532* NM_007214.4 NP_009145.1 Q9UGP8 SEC63_HUMAN SEC63 homolog (S. cerevisiae) 532 SEC63 1. protein folding|protein targeting to membrane endoplasmic reticulum membrane|integral to membrane heat shock protein binding|receptor activity|unfolded protein binding p.L532*(2) endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294) BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054) TTTTTTTTTTAAAGGTTTCTT 0.368000 9 715 0 0 1 0 0 CILP2 148113 broad.mit.edu 37 19 19655205 19655205 + Silent SNP G G A TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr19:19655205G>A ENST00000586018.1 + 8 1971 c.1869G>A c.(1867-1869)tcG>tcA p.S623S CILP2_ENST00000291495.4_Silent_p.S617S Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 617 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 32 ACCTCACCTCGGCGGCGTCTG 0.697000 42 619 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240371088 240371088 + Silent SNP T T A rs71170719 TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr1:240371088T>A ENST00000319653.9 + 5 3206 c.2976T>A c.(2974-2976)ctT>ctA p.L992L NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 992 FH1.|Pro-rich. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CTCCCCCACTTCCCGGAGCGG 0.701000 20 179 0 0 1 0 0 CFTR 1080 broad.mit.edu 37 7 117171027 117171027 + Missense_Mutation SNP A A C TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr7:117171027A>C ENST00000003084.6 + 4 480 c.348A>C c.(346-348)gaA>gaC p.E116D CFTR_ENST00000454343.1_Missense_Mutation_p.E116D NM_000492.3 NP_000483.3 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 116 ABC transmembrane type-1 1. respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) ACAAGGAGGAACGCTCTATCG 0.448000 Cystic Fibrosis 4 199 0 0 1 0 0 CSF2RA 0 broad.mit.edu 37 X 1428355 1428355 + Missense_Mutation SNP G G A rs139686363 byFrequency TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chrX:1428355G>A ENST00000381524.3 + 13 1372 c.1186G>A c.(1186-1188)Gtg>Atg p.V396M CSF2RA_ENST00000417535.2_Missense_Mutation_p.V430M|CSF2RA_ENST00000381529.3_Missense_Mutation_p.V396M|CSF2RA_ENST00000432318.2_Missense_Mutation_p.V396M|CSF2RA_ENST00000361536.3_3'UTR|CSF2RA_ENST00000501036.2_Missense_Mutation_p.V263M|CSF2RA_ENST00000355805.2_3'UTR|CSF2RA_ENST00000355432.3_Missense_Mutation_p.R336H|CSF2RA_ENST00000381500.1_3'UTR|CSF2RA_ENST00000498153.1_3'UTR P15509 CSF2R_HUMAN colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) 396 extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 45 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) GGTCTTGACCGTGAAGGAAAT 0.527000 6 877 0 0 1 0 0 MYLK 4638 broad.mit.edu 37 3 123452795 123452795 + Missense_Mutation SNP C C T TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr3:123452795C>T ENST00000360772.3 - 11 1426 c.1048G>A c.(1048-1050)Gca>Aca p.A350T MYLK_ENST00000475616.1_Missense_Mutation_p.A350T|MYLK_ENST00000360304.3_Missense_Mutation_p.A350T|MYLK_ENST00000359169.1_Missense_Mutation_p.A350T|MYLK_ENST00000346322.5_Missense_Mutation_p.A350T Q15746 MYLK_HUMAN myosin light chain kinase 350 aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity p.A350T(1)|p.A350P(1)|p.A350S(1) NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) TGAACTCTTGCGGCCTGCAGG 0.632000 7 803 0 0 1 0 0 UBBP4 0 broad.mit.edu 37 17 21730847 21730847 + Missense_Mutation SNP G G T TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr17:21730847G>T ENST00000584755.1 + 2 546 c.149G>T c.(148-150)cGg>cTg p.R50L UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R50L|UBBP4_ENST00000583708.1_Intron endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GGCAAGCAGCGGGAAGATGGC 0.522000 6 277 0.00198382 0.00200538 1 1 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128671 45128671 + RNA SNP T T G rs1056072 by1000genomes TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr17:45128671T>G ENST00000575173.1 - 0 418 GCTCACAAAATAAGTTCCAGG 0.323000 7 523 0 0 1 0 0 STRN3 29966 broad.mit.edu 37 14 31376184 31376184 + Missense_Mutation SNP C C T TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr14:31376184C>T ENST00000355683.5 - 12 1750 c.1535G>A c.(1534-1536)gGc>gAc p.G512D STRN3_ENST00000357479.5_Missense_Mutation_p.G596D NM_014574.3 NP_055389.3 Q13033 STRN3_HUMAN striatin, calmodulin binding protein 3 596 negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Hepatocellular(127;0.0877)|Breast(36;0.148) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805) GBM - Glioblastoma multiforme(265;0.0124) ATTTTTTATGCCACTATAAGC 0.368000 5 460 0 0 1 0 0 NPHS1 4868 broad.mit.edu 37 19 36322199 36322199 + Splice_Site SNP G G A TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr19:36322199G>A ENST00000378910.5 - 26 3385 c.3387_splice c.e26+1 p.T1129_splice NPHS1_ENST00000353632.6_Splice_Site_p.T1089_splice NM_004646.3 NP_004637.1 O60500 NPHN_HUMAN nephrosis 1, congenital, Finnish type (nephrin) 1129 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) CCCACTTACCGTGGAGCTCTG 0.607000 30 447 0 0 1 0 0 IGHV3-43 0 broad.mit.edu 37 14 106926482 106926482 + RNA SNP T T C TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr14:106926482T>C ENST00000434710.1 - 0 139 CCAGCTGCACTTCACACTGGA 0.527000 8 897 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82784471 82784471 + Missense_Mutation SNP A A G TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr7:82784471A>G ENST00000423517.2 - 2 1823 c.1486T>C c.(1486-1488)Tca>Cca p.S496P PCLO_ENST00000333891.8_Missense_Mutation_p.S496P NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 442 10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.|Gln-rich.|Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.S496P(6)|p.?(3) 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 GGCTTTGCTGAGCCAGGCTGT 0.607000 26 1177 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18844925 18844925 + RNA SNP A A G TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr22:18844925A>G ENST00000412938.1 + 0 3175 GTTCACGTCCATCTCGCTCAT 0.572000 11 401 0 0 1 0 0 NOX4 50507 broad.mit.edu 37 11 89106611 89106611 + Missense_Mutation SNP C C T TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr11:89106611C>T ENST00000535633.1 - 12 1362 c.1052G>A c.(1051-1053)gGa>gAa p.G351E NOX4_ENST00000527626.1_Missense_Mutation_p.G209E|NOX4_ENST00000375979.3_Missense_Mutation_p.G68E|NOX4_ENST00000531342.1_Missense_Mutation_p.G68E|NOX4_ENST00000527956.1_Missense_Mutation_p.G351E|NOX4_ENST00000343727.5_Missense_Mutation_p.G351E|NOX4_ENST00000534731.1_Missense_Mutation_p.G375E|NOX4_ENST00000263317.4_Missense_Mutation_p.G375E|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000532825.1_Missense_Mutation_p.G351E|NOX4_ENST00000542487.1_Missense_Mutation_p.G351E|NOX4_ENST00000528341.1_Missense_Mutation_p.G350E|NOX4_ENST00000413594.2_Missense_Mutation_p.G396E|NOX4_ENST00000424319.1_Missense_Mutation_p.G351E NM_001143836.1|NM_016931.3 NP_001137308.1|NP_058627.1 Q9NPH5 NOX4_HUMAN NADPH oxidase 4 375 FAD-binding FR-type.|Mediates interaction with TLR4. cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity p.G375E(1) NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2) 44 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011) TGTCCAGTCTCCTACTATTTT 0.279000 10 802 0 0 1 0 0 OR7D4 125958 broad.mit.edu 37 19 9325369 9325369 + Missense_Mutation SNP C C T rs112089905 TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr19:9325369C>T ENST00000308682.2 - 1 173 c.145G>A c.(145-147)Gtc>Atc p.V49I NM_001005191.2 NP_001005191.1 Q8NG98 OR7D4_HUMAN olfactory receptor, family 7, subfamily D, member 4 49 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1) 26 TCAGAGCTGACGGCCAGAATG 0.552000 7 614 0 0 1 0 0 TBC1D4 9882 broad.mit.edu 37 13 75886933 75886933 + Missense_Mutation SNP C C T TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr13:75886933C>T ENST00000377636.3 - 13 2670 c.2324G>A c.(2323-2325)cGc>cAc p.R775H TBC1D4_ENST00000431480.2_Missense_Mutation_p.R767H|TBC1D4_ENST00000377625.2_Missense_Mutation_p.R712H|TBC1D4_ENST00000425511.1_5'UTR NM_014832.2 NP_055647.2 O60343 TBCD4_HUMAN TBC1 domain family, member 4 775 cytoplasm Rab GTPase activator activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Prostate(6;0.014)|Breast(118;0.0982) GBM - Glioblastoma multiforme(99;0.0116) GAGGAAAATGCGCTGCCGCCA 0.522000 6 399 0 0 1 0 0 PCDHA6 0 broad.mit.edu 37 5 140209350 140209350 + Silent SNP G G A TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr5:140209350G>A ENST00000529310.1 + 1 1788 c.1674G>A c.(1672-1674)gaG>gaA p.E558E PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron NM_018909.2|NM_031848.1|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCTGGACGAGAACGACAACG 0.687000 8 995 0 0 1 0 0 TRGC1 0 broad.mit.edu 37 7 38299789 38299789 + RNA SNP A A G rs117590081 by1000genomes TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr7:38299789A>G ENST00000443402.2 - 0 420 NM_001003799.1|NM_001003806.1 NP_001003799.1|NP_001003806.1 GAGGAGGTACATGTAATATGC 0.423000 5 253 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162304 90162304 + RNA SNP A A G TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr16:90162304A>G ENST00000567960.1 + 0 1040 TUBB8P7_ENST00000564451.1_RNA CTGGCTCCCCAACAACGTAAA 0.502000 6 835 0 0 1 0 0 RETNLB 84666 broad.mit.edu 37 3 108474644 108474644 + Missense_Mutation SNP C C T TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr3:108474644C>T ENST00000295755.6 - 3 515 c.317G>A c.(316-318)cGc>cAc p.R106H RETNLB_ENST00000482939.1_Intron NM_032579.2 NP_115968.1 Q9BQ08 RETNB_HUMAN resistin like beta 106 cell proliferation extracellular region hormone activity endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1) 16 GTGGCAGCAGCGGGCAGTGGT 0.552000 8 492 0 0 1 0 0 MYO1C 4641 broad.mit.edu 37 17 1386153 1386153 + Splice_Site SNP A A C rs115519639 by1000genomes TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr17:1386153A>C ENST00000359786.5 - 4 871 c.e4+1 MYO1C_ENST00000575158.1_Splice_Site|MYO1C_ENST00000361007.2_Splice_Site|MYO1C_ENST00000438665.2_Splice_Site|MYO1C_ENST00000545534.2_Splice_Site NM_001080779.1 NP_001074248.1 O00159 MYO1C_HUMAN myosin IC mRNA transport|protein transport|transmembrane transport basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane actin binding|ATP binding|calmodulin binding|motor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) CCTGCCCCTCACCTCCAGCAC 0.682000 8 147 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11098756 11098756 + RNA SNP C C A rs76612892 TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr21:11098756C>A ENST00000470054.1 - 0 169 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) tccagccccactcctaccgct 0.622000 7 842 0.000673444 0.000685733 1 1 0 TP53 7157 broad.mit.edu 37 17 7578275 7578275 + Nonsense_Mutation SNP G G A TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr17:7578275G>A ENST00000420246.2 - 6 706 c.574C>T c.(574-576)Cag>Tag p.Q192* TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q192*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q192*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q192* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 192 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; 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.Q192*(83)|p.0?(8)|p.Q99*(6)|p.?(6)|p.Q60*(6)|p.P191del(4)|p.P191delP(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.G187fs*16(2)|p.P59delP(2)|p.P98delP(2)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P191_Q192delPQ(1)|p.Q192K(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.Q192del(1)|p.Q192fs*16(1)|p.L188_P191del(1)|p.Q192fs*30(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) ATAAGATGCTGAGGAGGGGCC 0.557000 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) 13 266 0 0 1 0 0 TUBBP5 0 broad.mit.edu 37 9 141070116 141070116 + RNA SNP G G A rs142836124 by1000genomes TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr9:141070116G>A ENST00000503395.1 + 0 1196 p.R77H(1) GACTCTGTGCGCTCGGGGCCC 0.687000 7 550 0 0 1 0 0 RCBTB2 1102 broad.mit.edu 37 13 49070346 49070346 + Missense_Mutation SNP G G A TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr13:49070346G>A ENST00000344532.3 - 14 1919 c.1496C>T c.(1495-1497)gCg>gTg p.A499V RCBTB2_ENST00000544492.1_Missense_Mutation_p.A225V|RCBTB2_ENST00000430805.2_Missense_Mutation_p.A504V NM_001268.2 NP_001259.1 O95199 RCBT2_HUMAN regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2 499 BTB 2. Ran guanyl-nucleotide exchange factor activity breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3) 31 all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116) ATACTTCACCGCAGCCGAGAG 0.478000 20 390 0 0 1 0 0 UBBP4 0 broad.mit.edu 37 17 21731270 21731270 + Missense_Mutation SNP T T C TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr17:21731270T>C ENST00000584755.1 + 2 969 c.572T>C c.(571-573)aTc>aCc p.I191T UBBP4_ENST00000578713.1_Intron|UBBP4_ENST00000583708.1_3'UTR p.I191T(3) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 ATCCCCCCGATCAGCAGAGGC 0.547000 8 597 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276565 186276565 + Missense_Mutation SNP A A G TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr1:186276565A>G ENST00000445192.2 + 7 1759 c.1714A>G c.(1714-1716)Acc>Gcc p.T572A PRG4_ENST00000367483.4_Missense_Mutation_p.T531A|PRG4_ENST00000367485.4_Missense_Mutation_p.T479A|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Missense_Mutation_p.T529A NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 572 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity p.T572A(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 TGCACCCACCACCCCCAAGAA 0.642000 11 871 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162298 90162298 + RNA SNP C C T TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr16:90162298C>T ENST00000567960.1 + 0 1034 TUBB8P7_ENST00000564451.1_RNA TGCTGACTGGCTCCCCAACAA 0.502000 21 821 0 0 1 0 0 LILRB2 0 broad.mit.edu 37 19 54782813 54782813 + Missense_Mutation SNP C C T rs141001610 byFrequency TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr19:54782813C>T ENST00000391748.1 - 6 936 c.809G>A c.(808-810)cGg>cAg p.R270Q LILRB2_ENST00000434421.1_Missense_Mutation_p.R154Q|LILRB2_ENST00000314446.5_Missense_Mutation_p.R270Q|LILRB2_ENST00000391746.1_Missense_Mutation_p.R270Q|LILRB2_ENST00000391749.4_Missense_Mutation_p.R270Q NM_001278403.1 NP_001265332.1 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 270 Ig-like C2-type 3. cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 44 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CTGGGGCTGCCGGCCAGGGAG 0.627000 6 527 0 0 1 0 0 TPSD1 23430 broad.mit.edu 37 16 1306311 1306311 + Silent SNP C C T TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr16:1306311C>T ENST00000211076.3 + 1 178 c.30C>T c.(28-30)agC>agT p.S10S TPSD1_ENST00000397534.2_Silent_p.S3S NM_012217.2 NP_036349.1 Q9BZJ3 TRYD_HUMAN tryptase delta 1 10 proteolysis extracellular region serine-type endopeptidase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 20 Hepatocellular(780;0.00369) AGATGCTGAGCCTGCTGCTGC 0.682000 10 826 0 0 1 0 0 OR1F1 4992 broad.mit.edu 37 16 3254568 3254568 + Missense_Mutation SNP G G A TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr16:3254568G>A ENST00000304646.2 + 1 322 c.322G>A c.(322-324)Gtg>Atg p.V108M AJ003147.9_ENST00000576468.1_RNA NM_012360.1 NP_036492.1 O43749 OR1F1_HUMAN olfactory receptor, family 1, subfamily F, member 1 108 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(2)|lung(7) 11 TTTCATGTTCGTGGACATGGA 0.502000 8 967 0 0 1 0 0 DOCK8 81704 broad.mit.edu 37 9 328114 328114 + Silent SNP G G A TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr9:328114G>A ENST00000432829.2 + 9 1099 c.783G>A c.(781-783)gcG>gcA p.A261A DOCK8_ENST00000453981.1_Silent_p.A329A|DOCK8_ENST00000469391.1_Silent_p.A261A NM_203447.3 NP_982272.2 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 329 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 65 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) CAAGTCAGGCGAGATCTGCAG 0.458000 25 255 0 0 1 0 0 F5 2153 broad.mit.edu 37 1 169510502 169510502 + Missense_Mutation SNP G G T rs140018525 byFrequency TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr1:169510502G>T ENST00000367796.3 - 13 4042 c.3841C>A c.(3841-3843)Ctt>Att p.L1281I F5_ENST00000367797.3_Missense_Mutation_p.L1276I P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 1276 35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B. 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) TCTGGAGAAAGGGGCATCTGA 0.502000 14 2061 8.12818e-05 8.30683e-05 1 1 0 SEMG1 6406 broad.mit.edu 37 20 43836817 43836817 + Silent SNP A A G rs17850164 TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr20:43836817A>G ENST00000372781.3 + 2 936 c.879A>G c.(877-879)acA>acG p.T293T SEMG1_ENST00000244069.6_Intron NM_003007.3 NP_002998.1 semenogelin I p.T293T(2) cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1) 32 Myeloproliferative disorder(115;0.0122) CTTCAAGTACAGAAGAAAGAC 0.383000 9 556 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18845961 18845961 + RNA SNP C C T TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr22:18845961C>T ENST00000412938.1 + 0 3319 GAGATCTCATCGCGGACACCA 0.517000 9 249 0 0 1 0 0 ZAP70 7535 broad.mit.edu 37 2 98354224 98354224 + Missense_Mutation SNP G G A rs150631046 TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr2:98354224G>A ENST00000264972.5 + 12 1702 c.1487G>A c.(1486-1488)cGc>cAc p.R496H ZAP70_ENST00000442208.1_Missense_Mutation_p.R370H|ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000451498.2_Missense_Mutation_p.R189H NM_001079.3 NP_001070.2 P43403 ZAP70_HUMAN zeta-chain (TCR) associated protein kinase 70kDa 496 Protein kinase. immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway cytosol|T cell receptor complex ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 29 CCCCAGGCCCGCTCAGCAGGG 0.627000 6 776 0 0 1 0 0 TGM7 116179 broad.mit.edu 37 15 43579655 43579655 + Splice_Site SNP T T C TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr15:43579655T>C ENST00000452443.2 - 6 692 c.687_splice c.e6-1 p.I230_splice NM_052955.2 NP_443187.1 Q96PF1 TGM7_HUMAN transglutaminase 7 230 peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1) 39 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;9.14e-07) L-Glutamine(DB00130) TTGCTGTTGATCTGCAGAGGA 0.597000 37 380 0 0 1 0 0 HTR5A 3361 broad.mit.edu 37 7 154862765 154862765 + Silent SNP G G A TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr7:154862765G>A ENST00000287907.2 + 1 732 c.156G>A c.(154-156)gcG>gcA p.A52A AC093726.4_ENST00000493904.1_5'UTR|AC093726.4_ENST00000543018.1_Silent_p.A83A|AC093726.4_ENST00000395731.2_Silent_p.A83A NM_024012.3 NP_076917.1 P47898 5HT5A_HUMAN 5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled 52 integral to plasma membrane serotonin receptor activity NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1) 48 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0238) UCEC - Uterine corpus endometrioid carcinoma (81;0.171) TTCTGGTGGCGGCGACGTTCG 0.647000 8 374 0 0 1 0 0 HMGN2P46 0 broad.mit.edu 37 15 45848224 45848224 + RNA SNP G G T TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr15:45848224G>T ENST00000409454.1 + 0 1219 TGCAGATTTTGTTTAGCTTTT 0.318000 15 109 4.16121e-05 4.2683e-05 1 1 0 SSX3 10214 broad.mit.edu 37 X 48209006 48209006 + Silent SNP G G A TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chrX:48209006G>A ENST00000376893.3 - 7 576 c.483C>T c.(481-483)taC>taT p.Y161Y SSX3_ENST00000376895.1_Intron|SSX3_ENST00000298396.2_Intron Q99909 SSX3_HUMAN synovial sarcoma, X breakpoint 3 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding p.Y161Y(1) endometrium(3)|large_intestine(1)|lung(9) 13 cgaacctgcagtatctctgaa 0.413000 10 266 0 0 1 0 0 ZNF799 90576 broad.mit.edu 37 19 12501446 12501446 + Missense_Mutation SNP T T C TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr19:12501446T>C ENST00000419318.1 - 4 2419 c.1670A>G c.(1669-1671)gAa>gGa p.E557G ZNF799_ENST00000430385.3_Missense_Mutation_p.E589G|CTD-3105H18.14_ENST00000435033.1_Intron Q96GE5 ZN799_HUMAN zinc finger protein 799 589 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2) 19 TTCCTTACATTCATACGGGTT 0.413000 5 425 0 0 1 0 0 ALG1L 200810 broad.mit.edu 37 3 125648197 125648197 + Nonstop_Mutation SNP A A G TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr3:125648197A>G ENST00000340333.3 - 6 725 c.562T>C c.(562-564)Tga>Cga p.*188R FAM86JP_ENST00000485843.1_RNA NM_001015050.2|NM_001195223.1 NP_001015050.2|NP_001182152.1 Q6GMV1 ALG1L_HUMAN ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like 0 transferase activity, transferring glycosyl groups large_intestine(2)|lung(2) 4 GGCGCTGCTCAAAAGGGTTTG 0.572000 5 294 0 0 1 0 0 CHST1 8534 broad.mit.edu 37 11 45671352 45671352 + Silent SNP G G A TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr11:45671352G>A ENST00000308064.2 - 4 1792 c.1122C>T c.(1120-1122)aaC>aaT p.N374N NM_003654.5 NP_003645.1 O43916 CHST1_HUMAN carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 374 galactose metabolic process|inflammatory response|keratan sulfate metabolic process Golgi membrane|integral to membrane keratan sulfotransferase activity breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781) GCTGGCAGGCGTTCTGGGCAA 0.662000 18 459 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625877 29625877 + Missense_Mutation SNP G G A rs7266938 by1000genomes TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr20:29625877G>A ENST00000278882.3 + 5 501 c.121G>A c.(121-123)Gcc>Acc p.A41T FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T p.A41T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTACAGAATCGCCCTGAAATC 0.358000 26 622 0 0 1 0 0 NBPF9 400818 broad.mit.edu 37 1 144815950 144815950 + Missense_Mutation SNP G G C TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr1:144815950G>C ENST00000440491.2 + 4 547 c.547G>C c.(547-549)Gac>Cac p.D183H NBPF9_ENST00000338347.4_Missense_Mutation_p.D183H|NBPF9_ENST00000281815.8_5'UTR|NBPF9_ENST00000468645.1_3'UTR NM_001037675.2 NP_001032764.1 neuroblastoma breakpoint family, member 9 NS(2)|prostate(1) 3 TGACAACGATGACAATGAAGA 0.423000 6 226 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152327757 152327757 + Silent SNP C C T rs36032219 TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr1:152327757C>T ENST00000388718.5 - 3 2577 c.2505G>A c.(2503-2505)caG>caA p.Q835Q FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 835 Ser-rich. calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TAGACTCATGCTGTCCAAAGC 0.512000 12 2782 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11098763 11098763 + RNA SNP C C T rs73891538 TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr21:11098763C>T ENST00000470054.1 - 0 162 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) ccactcctaccgctcaggccg 0.622000 9 819 0 0 1 0 0 SDHAP1 0 broad.mit.edu 37 3 195711466 195711466 + RNA SNP G G T TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr3:195711466G>T ENST00000427841.1 - 0 481 NR_003264.2 GCCCATCACCGCGACCATGGC 0.582000 11 488 7.03913e-09 7.32805e-09 1 1 0 PCSK5 5125 broad.mit.edu 37 9 78790136 78790136 + Missense_Mutation SNP T T C rs62556589 TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr9:78790136T>C ENST00000376767.3 + 14 2503 c.1991T>C c.(1990-1992)aTg>aCg p.M664T PCSK5_ENST00000376752.4_Intron|PCSK5_ENST00000545128.1_Intron Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 0 CRM (Cys-rich motif). anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 tggaatggaatgaaatggaat 0.423000 6 127 0 0 1 0 0 ABCC3 8714 broad.mit.edu 37 17 48753771 48753771 + Missense_Mutation SNP G G A TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr17:48753771G>A ENST00000285238.8 + 23 3280 c.3200G>A c.(3199-3201)cGc>cAc p.R1067H NM_003786.3 NP_003777.2 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 3 1067 ABC transmembrane type-1 2. bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) CCATCAGGCCGCATCCTGAAC 0.557000 10 1363 0 0 1 0 0 ZNF727 442319 broad.mit.edu 37 7 63538568 63538568 + Missense_Mutation SNP T T C TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr7:63538568T>C ENST00000550760.3 + 4 1320 c.1141T>C c.(1141-1143)Tca>Cca p.S381P NM_001159522.1 NP_001152994.1 A8MUV8 ZN727_HUMAN zinc finger protein 727 381 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1) 8 TAAGTGGTTCTCAGACCTGAC 0.388000 4 102 0 0 1 0 0 RREB1 6239 broad.mit.edu 37 6 7229368 7229368 + Nonsense_Mutation SNP G G T TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr6:7229368G>T ENST00000379938.2 + 10 1573 c.1036G>T c.(1036-1038)Gaa>Taa p.E346* RREB1_ENST00000349384.6_Nonsense_Mutation_p.E346*|RREB1_ENST00000334984.6_Nonsense_Mutation_p.E346*|RREB1_ENST00000379933.3_Nonsense_Mutation_p.E346* NM_001003699.3|NM_001003700.1 NP_001003699.1|NP_001003700.1 Q92766 RREB1_HUMAN ras responsive element binding protein 1 346 multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) CCAGGGTCAAGAAAAGCCGCA 0.632000 10 180 2.74318e-10 2.86647e-10 1 1 0 DNAH2 146754 broad.mit.edu 37 17 7680922 7680922 + Nonsense_Mutation SNP G G A TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr17:7680922G>A ENST00000572933.1 + 33 6677 c.5217G>A c.(5215-5217)tgG>tgA p.W1739* DNAH2_ENST00000389173.2_Nonsense_Mutation_p.W1739* Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 1739 Stem (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) CCTTTGACTGGCTCAGCCAAC 0.478000 10 1782 0 0 1 0 0 ZNF493 284443 broad.mit.edu 37 19 21606468 21606468 + Missense_Mutation SNP C C T rs142651314 byFrequency TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr19:21606468C>T ENST00000392288.2 + 4 1116 c.1007C>T c.(1006-1008)cCt>cTt p.P336L ZNF493_ENST00000355504.4_Missense_Mutation_p.P208L|CTD-2561J22.3_ENST00000600810.1_Intron NM_001076678.2 NP_001070146.1 Q6ZR52 ZN493_HUMAN zinc finger protein 493 208 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 TTCTCAACCCCTACTAAACAT 0.348000 5 370 0 0 1 0 0 TLL1 7092 broad.mit.edu 37 4 166978413 166978413 + Missense_Mutation SNP G G A TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr4:166978413G>A ENST00000061240.2 + 14 2445 c.1798G>A c.(1798-1800)Gcc>Acc p.A600T TLL1_ENST00000507499.1_Missense_Mutation_p.A623T NM_012464.4 NP_036596.3 O43897 TLL1_HUMAN tolloid-like 1 600 EGF-like 1; calcium-binding (Potential). cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) TTACCAGTGTGCCTGTGAGCC 0.512000 6 460 0 0 1 0 0 AC024560.3 0 broad.mit.edu 37 3 197348674 197348674 + RNA SNP A A G rs144273946 by1000genomes TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr3:197348674A>G ENST00000418868.1 - 0 585 NR_003266.2 GGCTCTGTCCACCAAATGCAC 0.478000 8 768 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276961 186276961 + Missense_Mutation SNP A A C rs145338869 byFrequency TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr1:186276961A>C ENST00000445192.2 + 7 2155 c.2110A>C c.(2110-2112)Act>Cct p.T704P PRG4_ENST00000367483.4_Missense_Mutation_p.T663P|PRG4_ENST00000367485.4_Missense_Mutation_p.T611P|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Missense_Mutation_p.T661P NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 704 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CCCTAAGGAGACTGCTCCAAC 0.597000 9 1084 0 0 1 0 0 PHF10 55274 broad.mit.edu 37 6 170118958 170118958 + Missense_Mutation SNP G G A TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr6:170118958G>A ENST00000339209.4 - 3 374 c.251C>T c.(250-252)aCa>aTa p.T84I PHF10_ENST00000464779.1_5'UTR|PHF10_ENST00000366780.4_Missense_Mutation_p.T84I NM_018288.3|NM_133325.2 NP_060758.2|NP_579866.2 Q8WUB8 PHF10_HUMAN PHD finger protein 10 84 nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent npBAF complex zinc ion binding endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1) 14 Breast(66;5.08e-05)|Ovarian(120;0.208) OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176) GTATTCTCCTGTTTCATCAGG 0.313000 8 450 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29633900 29633900 + Missense_Mutation SNP A A G rs60081496 by1000genomes TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr20:29633900A>G ENST00000278882.3 + 9 919 c.539A>G c.(538-540)gAa>gGa p.E180G FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G p.E180G(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TAAACAAGAGAACCAAATTGA 0.264000 11 501 0 0 1 0 0 MST1L 0 broad.mit.edu 37 1 17085354 17085354 + RNA SNP C C T TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr1:17085354C>T ENST00000455405.2 - 0 13 CGTGTAGCACCAGGGCCCATG 0.602000 6 434 0 0 1 0 0 ZNF480 147657 broad.mit.edu 37 19 52825191 52825191 + Missense_Mutation SNP C C T TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr19:52825191C>T ENST00000595962.1 + 5 754 c.688C>T c.(688-690)Cct>Tct p.P230S ZNF480_ENST00000334564.7_Missense_Mutation_p.P187S|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000335090.6_Missense_Mutation_p.P153S|ZNF480_ENST00000490272.1_3'UTR NM_144684.2 NP_653285.2 Q8WV37 ZN480_HUMAN zinc finger protein 480 230 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 12 GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369) TGTAGAGAAACCTTACAAATG 0.358000 24 344 0 0 1 0 0 NBPF9 400818 broad.mit.edu 37 1 144815946 144815946 + Silent SNP C C T TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr1:144815946C>T ENST00000440491.2 + 4 543 c.543C>T c.(541-543)aaC>aaT p.N181N NBPF9_ENST00000338347.4_Silent_p.N181N|NBPF9_ENST00000281815.8_5'UTR|NBPF9_ENST00000468645.1_3'UTR NM_001037675.2 NP_001032764.1 neuroblastoma breakpoint family, member 9 NS(2)|prostate(1) 3 AAAATGACAACGATGACAATG 0.423000 7 207 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276052 186276052 + Missense_Mutation SNP A A C TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr1:186276052A>C ENST00000445192.2 + 7 1246 c.1201A>C c.(1201-1203)Acc>Ccc p.T401P PRG4_ENST00000367483.4_Missense_Mutation_p.T360P|PRG4_ENST00000367485.4_Missense_Mutation_p.T308P|PRG4_ENST00000367484.3_Missense_Mutation_p.T360P|PRG4_ENST00000367486.3_Missense_Mutation_p.T358P NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 401 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity p.T401P(4)|p.T400>?(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 ACCCACCACCACCAAGGAGCC 0.642000 27 932 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522772 95522772 + RNA SNP T T C TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr2:95522772T>C ENST00000432432.2 - 0 255 NR_040113.1 p.E49G(1) GCGCTCCACCTCCGCGGCGTC 0.682000 12 365 0 0 1 0 0 MUC7 4589 broad.mit.edu 37 4 71347047 71347047 + Missense_Mutation SNP T T C TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr4:71347047T>C ENST00000413702.1 + 4 874 c.586T>C c.(586-588)Tct>Cct p.S196P MUC7_ENST00000304887.5_Missense_Mutation_p.S196P|MUC7_ENST00000456088.1_Missense_Mutation_p.S196P NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 196 Thr-rich. extracellular region protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) ACCCACACCTTCTGCAACTAC 0.587000 8 1293 0 0 1 0 0 KRTAP5-1 387264 broad.mit.edu 37 11 1606265 1606265 + Missense_Mutation SNP G G C TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr11:1606265G>C ENST00000382171.2 - 1 248 c.215C>G c.(214-216)tCt>tGt p.S72C KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA NM_001005922.1 NP_001005922.1 Q6L8H4 KRA51_HUMAN keratin associated protein 5-1 72 8 X 4 AA repeats of C-C-X-P. keratin filament endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1) 16 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) GGAGCCCCCAGAAGAGCCACA 0.677000 9 1343 0 0 1 0 0 ATP2B3 492 broad.mit.edu 37 X 152845618 152845618 + Silent SNP G G C rs143876864 byFrequency TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chrX:152845618G>C ENST00000263519.4 + 20 3651 c.3525G>C c.(3523-3525)ccG>ccC p.P1175P ATP2B3_ENST00000370181.2_3'UTR|ATP2B3_ENST00000370186.1_3'UTR|ATP2B3_ENST00000359149.3_3'UTR|ATP2B3_ENST00000349466.2_Silent_p.P1175P NM_001001344.2 NP_001001344.1 Q16720 AT2B3_HUMAN ATPase, Ca++ transporting, plasma membrane 3 1175 Poly-Pro. ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3) 50 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GGGCCCCCCCGCCCCCGTCCC 0.597000 57 1364 0 0 1 0 0 TPTE2 93492 broad.mit.edu 37 13 20048175 20048175 + Missense_Mutation SNP G G C TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr13:20048175G>C ENST00000400230.2 - 6 315 c.271C>G c.(271-273)Ctc>Gtc p.L91V TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000390680.2_Missense_Mutation_p.L54V|TPTE2_ENST00000382975.4_Missense_Mutation_p.L91V|TPTE2_ENST00000382978.1_Missense_Mutation_p.L91V|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000382977.4_Missense_Mutation_p.L91V|TPTE2_ENST00000255310.6_Missense_Mutation_p.L54V Q6XPS3 TPTE2_HUMAN transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 91 endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) TCGGCAAGGAGGAGAGTGACA 0.294000 6 463 0 0 1 0 0 MKI67 4288 broad.mit.edu 37 10 129906577 129906577 + Missense_Mutation SNP G G A rs117795868 by1000genomes TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr10:129906577G>A ENST00000368654.3 - 13 3902 c.3527C>T c.(3526-3528)aCg>aTg p.T1176M MKI67_ENST00000368653.3_Missense_Mutation_p.T816M NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 1176 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) TGGTTTGGGCGTAAGCATGGC 0.463000 9 1600 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625885 29625885 + Missense_Mutation SNP A A T TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr20:29625885A>T ENST00000278882.3 + 5 509 c.129A>T c.(127-129)aaA>aaT p.K43N FRG1B_ENST00000439954.2_Missense_Mutation_p.K48N|FRG1B_ENST00000358464.4_Missense_Mutation_p.K43N p.K43N(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TCGCCCTGAAATCTGGCTATG 0.353000 8 677 0 0 1 0 0 HIST2H2BF 440689 broad.mit.edu 37 1 149783726 149783726 + Silent SNP G G A TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr1:149783726G>A ENST00000427880.2 - 1 199 c.153C>T c.(151-153)ccC>ccT p.P51P HIST2H2BF_ENST00000545683.1_Silent_p.P51P|HIST2H2BF_ENST00000469483.1_5'UTR|HIST2H2BF_ENST00000369167.1_Silent_p.P51P Q5QNW6 H2B2F_HUMAN histone cluster 2, H2bf 51 nucleosome assembly nucleosome|nucleus DNA binding p.P51P(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Breast(34;0.0124)|all_hematologic(923;0.127) TGCCGGTGTCGGGGTGGACCT 0.592000 20 1584 0 0 1 0 0 TSPAN18 90139 broad.mit.edu 37 11 44931325 44931325 + Missense_Mutation SNP G G A rs138512957 TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr11:44931325G>A ENST00000340160.3 + 4 372 c.133G>A c.(133-135)Gtg>Atg p.V45M TSPAN18_ENST00000520358.2_Missense_Mutation_p.V45M NM_130783.4 NP_570139.3 Q96SJ8 TSN18_HUMAN tetraspanin 18 45 integral to membrane endometrium(1)|large_intestine(6)|lung(3) 10 CCGGGAGATCGTGGCTGCCAA 0.697000 7 548 0 0 1 0 0 BMS1 9790 broad.mit.edu 37 10 43318705 43318705 + Missense_Mutation SNP T T G TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr10:43318705T>G ENST00000374518.4 + 20 3335 c.3272T>G c.(3271-3273)cTg>cGg p.L1091R NM_014753.3 NP_055568.3 Q14692 BMS1_HUMAN BMS1 ribosome biogenesis factor 1091 ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity p.L1091R(1) NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 GATAAGCTGCTGATGAGCGGT 0.527000 5 503 0 0 1 0 0 ALMS1 7840 broad.mit.edu 37 2 73677492 73677492 + Missense_Mutation SNP G G A TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr2:73677492G>A ENST00000264448.6 + 8 3946 c.3835G>A c.(3835-3837)Gct>Act p.A1279T ALMS1_ENST00000377715.1_Missense_Mutation_p.A1279T|ALMS1_ENST00000409009.1_Missense_Mutation_p.A1237T NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 1279 34 X 47 AA approximate tandem repeat. G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole p.A1279T(1) breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 TGGCACACCAGCTGTAACCTC 0.433000 7 766 0 0 1 0 0 CRNN 49860 broad.mit.edu 37 1 152382519 152382519 + Missense_Mutation SNP T T C TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr1:152382519T>C ENST00000271835.3 - 3 1101 c.1039A>G c.(1039-1041)Act>Gct p.T347A RP1-91G5.3_ENST00000411804.1_RNA NM_016190.2 NP_057274.1 Q9UBG3 CRNN_HUMAN cornulin 347 Gln-rich. cell-cell adhesion|response to heat cytoplasm|membrane calcium ion binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) TGTATCTGAGTGTGTCCTCCT 0.592000 7 1458 0 0 1 0 0 CD33 945 broad.mit.edu 37 19 51728620 51728620 + Missense_Mutation SNP C C T rs138300409 byFrequency TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr19:51728620C>T ENST00000262262.4 + 2 205 c.184C>T c.(184-186)Cgg>Tgg p.R62W CD33_ENST00000391796.3_Missense_Mutation_p.R62W|CD33_ENST00000436584.2_Intron|CD33_ENST00000421133.2_Intron NM_001772.3 NP_001763.3 P20138 CD33_HUMAN CD33 molecule 62 Ig-like V-type. cell adhesion|cell-cell signaling|negative regulation of cell proliferation external side of plasma membrane|integral to plasma membrane receptor activity|sugar binding NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1) 24 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468) Gemtuzumab ozogamicin(DB00056) TTACTGGTTCCGGGAAGGAGC 0.537000 52 591 0 0 1 0 0 KRTAP4-12 83755 broad.mit.edu 37 17 39280266 39280266 + Missense_Mutation SNP G G A TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr17:39280266G>A ENST00000394014.1 - 1 153 c.109C>T c.(109-111)Cgc>Tgc p.R37C NM_031854.2 NP_114060.1 Q9BQ66 KR412_HUMAN keratin associated protein 4-12 37 31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC]. keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 13 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) CAGCTGGGGCGGCAGCAGGTG 0.672000 9 670 0 0 1 0 0 AC024560.3 0 broad.mit.edu 37 3 197348668 197348668 + RNA SNP C C G rs79940815 by1000genomes TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr3:197348668C>G ENST00000418868.1 - 0 591 NR_003266.2 ACTTGAGGCTCTGTCCACCAA 0.488000 6 749 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140994005 140994005 + Missense_Mutation SNP T T G rs112112998 TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chrX:140994005T>G ENST00000285879.4 + 4 1101 c.815T>G c.(814-816)gTg>gGg p.V272G MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 272 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) CAGATTCCTGTGAGCCCCTCC 0.488000 HNSCC(15;0.026) 10 1346 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14513764 14513764 + Missense_Mutation SNP C C T TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr18:14513764C>T ENST00000358970.5 - 10 1429 c.1430G>A c.(1429-1431)cGg>cAg p.R477Q NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 477 p.R477Q(12) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 AAGTTGTTTCCGGGTATCATT 0.358000 9 268 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274415 39274415 + Silent SNP C C T rs425487 by1000genomes TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr17:39274415C>T ENST00000391413.2 - 1 191 c.153G>A c.(151-153)agG>agA p.R51R NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 51 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. Missing (in allele KAP4.14). keratin filament p.R51R(6) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) AGCACTGGGGCCTGCAGCAGC 0.667000 19 320 0 0 1 0 0 RGPD3 653489 broad.mit.edu 37 2 107049681 107049681 + Missense_Mutation SNP T T C TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr2:107049681T>C ENST00000409886.3 - 16 2353 c.2266A>G c.(2266-2268)Aac>Gac p.N756D RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 756 intracellular transport binding p.N756D(6) breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 TCACTATAGTTTTCGAGTTCC 0.373000 11 1673 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49444897 49444897 + Missense_Mutation SNP T T C TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr12:49444897T>C ENST00000301067.7 - 10 2568 c.2569A>G c.(2569-2571)Aag>Gag p.K857E NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D AGGGGTGGCTTCTCAAGCTCA 0.647000 45 548 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414313 20414313 + Silent SNP G G A TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr9:20414313G>A ENST00000380338.4 - 5 817 c.531C>T c.(529-531)agC>agT p.S177S MLLT3_ENST00000429426.2_Silent_p.S174S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 177 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctactgctgctgctgc 0.527000 T MLL ALL 7 444 0 0 1 0 0 CLEC4M 10332 broad.mit.edu 37 19 7830661 7830661 + Missense_Mutation SNP C C G TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr19:7830661C>G ENST00000327325.5 + 4 470 c.352C>G c.(352-354)Cag>Gag p.Q118E CLEC4M_ENST00000248228.4_Missense_Mutation_p.Q118E|CLEC4M_ENST00000595496.1_Missense_Mutation_p.Q97E|CLEC4M_ENST00000596363.1_Missense_Mutation_p.Q90E|CLEC4M_ENST00000334806.5_Missense_Mutation_p.Q90E|CLEC4M_ENST00000357361.2_Missense_Mutation_p.Q118E|CLEC4M_ENST00000597522.1_Missense_Mutation_p.Q118E|CLEC4M_ENST00000596707.1_Missense_Mutation_p.Q97E|CLEC4M_ENST00000359059.5_Missense_Mutation_p.Q97E|CLEC4M_ENST00000394122.2_Missense_Mutation_p.Q106E NM_001144909.1|NM_014257.4 NP_001138381.1|NP_055072.3 Q9H2X3 CLC4M_HUMAN C-type lectin domain family 4, member M 118 7 X approximate tandem repeats. cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to plasma membrane ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1) 26 GGAGCTGACCCAGCTGAAGGC 0.562000 8 971 0 0 1 0 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296662 39296662 + Silent SNP A A G TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr17:39296662A>G ENST00000345847.4 - 1 77 c.78T>C c.(76-78)tgT>tgC p.C26C NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 26 29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP]. keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 AGGTGGTCTGACAGCAGCTGG 0.642000 7 539 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11650990 11650990 + Missense_Mutation SNP C C T TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr17:11650990C>T ENST00000262442.3 + 32 6585 c.6517C>T c.(6517-6519)Cgg>Tgg p.R2173W DNAH9_ENST00000454412.2_Missense_Mutation_p.R2173W NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 2173 AAA 2 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.R2173W(1) NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GATCATGAAACGGCGCCCCGT 0.542000 25 423 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195400728 195400728 + RNA SNP A A G rs12107841 by1000genomes TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr3:195400728A>G ENST00000445430.1 + 0 1324 GATTGTGCCCAGCCTGTACGC 0.587000 5 248 0 0 1 0 0 RREB1 6239 broad.mit.edu 37 6 7229365 7229365 + Nonsense_Mutation SNP C C T TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr6:7229365C>T ENST00000379938.2 + 10 1570 c.1033C>T c.(1033-1035)Caa>Taa p.Q345* RREB1_ENST00000349384.6_Nonsense_Mutation_p.Q345*|RREB1_ENST00000334984.6_Nonsense_Mutation_p.Q345*|RREB1_ENST00000379933.3_Nonsense_Mutation_p.Q345* NM_001003699.3|NM_001003700.1 NP_001003699.1|NP_001003700.1 Q92766 RREB1_HUMAN ras responsive element binding protein 1 345 multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) AGACCAGGGTCAAGAAAAGCC 0.627000 10 176 0 0 1 0 0 STS 412 broad.mit.edu 37 X 7267976 7267976 + Missense_Mutation SNP G G A TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chrX:7267976G>A ENST00000217961.4 + 10 1646 c.1426G>A c.(1426-1428)Gtg>Atg p.V476M NM_000351.4 NP_000342.2 P08842 STS_HUMAN steroid sulfatase (microsomal), isozyme S 476 female pregnancy|steroid catabolic process endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane metal ion binding|steryl-sulfatase activity NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1) 27 Colorectal(8;0.0136)|Medulloblastoma(8;0.184) Estrone(DB00655) CTTCAACCCCGTGGGTTCCAA 0.473000 Ichthyosis 6 867 0 0 1 0 0 SSX3 10214 broad.mit.edu 37 X 48209018 48209018 + Silent SNP G G C TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chrX:48209018G>C ENST00000376893.3 - 7 564 c.471C>G c.(469-471)gtC>gtG p.V157V SSX3_ENST00000376895.1_Intron|SSX3_ENST00000298396.2_Intron Q99909 SSX3_HUMAN synovial sarcoma, X breakpoint 3 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding endometrium(3)|large_intestine(1)|lung(9) 13 atctctgaaggacacctgTAT 0.418000 10 291 0 0 1 0 0 HMBS 3145 broad.mit.edu 37 11 118955763 118955763 + Missense_Mutation SNP C C T TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr11:118955763C>T ENST00000278715.3 + 1 171 c.20C>T c.(19-21)gCg>gTg p.A7V HMBS_ENST00000542729.1_5'UTR|HMBS_ENST00000544387.1_Missense_Mutation_p.A7V|HMBS_ENST00000543090.1_Missense_Mutation_p.A7V|HMBS_ENST00000537841.1_5'UTR|HMBS_ENST00000442944.2_5'UTR NM_000190.3 NP_000181.2 P08397 HEM3_HUMAN hydroxymethylbilane synthase 7 peptidyl-pyrromethane cofactor linkage cytosol hydroxymethylbilane synthase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1) 15 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.72e-05) AACGGCAATGCGGCTGCAACG 0.667000 5 311 0 0 1 0 0 SLC1A3 6507 broad.mit.edu 37 5 36684084 36684084 + Missense_Mutation SNP G G A TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr5:36684084G>A ENST00000265113.4 + 9 1884 c.1408G>A c.(1408-1410)Gcg>Acg p.A470T SLC1A3_ENST00000381918.3_Intron|CTD-2353F22.1_ENST00000510740.1_RNA NM_004172.4 NP_004163.3 P43003 EAA1_HUMAN solute carrier family 1 (glial high affinity glutamate transporter), member 3 470 D-aspartate import|L-glutamate import|neurotransmitter uptake integral to membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1) 41 all_lung(31;0.000245) Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) L-Glutamic Acid(DB00142) GCTCATCATCGCGGTGGACTG 0.587000 60 688 0 0 1 0 0 GLE1 2733 broad.mit.edu 37 9 131295934 131295934 + Splice_Site SNP G G T TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr9:131295934G>T ENST00000309971.4 + 10 1561 c.1455_splice c.e10+1 p.V485_splice GLE1_ENST00000539582.1_Splice_Site_p.V231_splice|RP11-216B9.6_ENST00000434999.1_RNA|GLE1_ENST00000372770.4_Splice_Site_p.V485_splice NM_001003722.1 NP_001003722.1 Q53GS7 GLE1_HUMAN GLE1 RNA export mediator 485 poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport cytoplasm|nuclear pore protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1) 16 AGAAATTTGTGGTGAGAAACC 0.443000 7 781 0.0381472 0.0381472 1 1 0 PYGO1 26108 broad.mit.edu 37 15 55838323 55838323 + Silent SNP T T C TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr15:55838323T>C ENST00000302000.6 - 3 1252 c.1158A>G c.(1156-1158)gcA>gcG p.A386A PYGO1_ENST00000563719.1_Silent_p.A386A NM_015617.1 NP_056432.1 Q9Y3Y4 PYGO1_HUMAN pygopus family PHD finger 1 386 Wnt receptor signaling pathway nucleus zinc ion binding endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 27 all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18) ATACTGCAGATGCTTCTGCAG 0.458000 40 494 0 0 1 0 0 NPR1 4881 broad.mit.edu 37 1 153661467 153661467 + Missense_Mutation SNP G G A TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr1:153661467G>A ENST00000368680.3 + 16 2928 c.2456G>A c.(2455-2457)cGc>cAc p.R819H NM_000906.3 NP_000897.3 P16066 ANPRA_HUMAN natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) 819 body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325) CTGCTGTCCCGCATGGAGCAG 0.627000 7 1243 0 0 1 0 0 CHSY3 337876 broad.mit.edu 37 5 129241297 129241297 + Missense_Mutation SNP C C T TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr5:129241297C>T ENST00000305031.4 + 1 1133 c.775C>T c.(775-777)Cgc>Tgc p.R259C CTC-575N7.1_ENST00000503616.1_RNA|CTC-575N7.1_ENST00000515569.1_RNA NM_175856.4 NP_787052.3 Q70JA7 CHSS3_HUMAN chondroitin sulfate synthase 3 259 Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1) 28 all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.136) GTGGTTCATGCGCGCCGACGA 0.562000 6 867 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152328192 152328192 + Missense_Mutation SNP A A C TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr1:152328192A>C ENST00000388718.5 - 3 2142 c.2070T>G c.(2068-2070)caT>caG p.H690Q FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 690 Ser-rich. calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CATAGCTAGAATGACCTGATC 0.463000 10 2693 0 0 1 0 0 KIAA0430 9665 broad.mit.edu 37 16 15728761 15728761 + Missense_Mutation SNP C C T TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr16:15728761C>T ENST00000396368.3 - 4 1065 c.859G>A c.(859-861)Gct>Act p.A287T KIAA0430_ENST00000602337.1_Missense_Mutation_p.A287T|KIAA0430_ENST00000551742.1_Missense_Mutation_p.A287T|KIAA0430_ENST00000548025.1_Missense_Mutation_p.A287T|KIAA0430_ENST00000540441.2_Missense_Mutation_p.A287T|KIAA0430_ENST00000344181.3_Missense_Mutation_p.A109T NM_001184998.1|NM_001184999.1|NM_014647.3 NP_001171927.1|NP_001171928.1|NP_055462.2 Q9Y4F3 LKAP_HUMAN KIAA0430 286 peroxisome nucleotide binding|RNA binding breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1) 40 CAGACTTTAGCCGCATCGATT 0.418000 8 647 0 0 1 0 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39261693 39261693 + Missense_Mutation SNP A A T rs113059833 by1000genomes TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr17:39261693A>T ENST00000391415.1 + 1 110 c.53A>T c.(52-54)gAc>gTc p.D18V NM_001146041.1 NP_001139513.1 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 18 keratin filament p.D18V(1) central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3) 14 TGCGGCCAAGACCTCTGTCAG 0.627000 33 316 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522727 95522727 + RNA SNP C C A TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr2:95522727C>A ENST00000432432.2 - 0 300 NR_040113.1 p.R64L(2) CTGCTTGTCCCGGGCGTCCAG 0.731000 5 260 1.5842e-08 1.64309e-08 1 1 0 FAM104B 90736 broad.mit.edu 37 X 55172537 55172537 + Nonsense_Mutation SNP G G A rs1047054 by1000genomes TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chrX:55172537G>A ENST00000425133.2 - 3 369 c.331C>T c.(331-333)Cga>Tga p.R111* FAM104B_ENST00000358460.4_Intron|FAM104B_ENST00000472571.2_3'UTR|FAM104B_ENST00000489298.1_Nonsense_Mutation_p.R109*|FAM104B_ENST00000477847.2_Nonsense_Mutation_p.R107*|FAM104B_ENST00000332132.4_Intron NM_001166700.1|NM_001166701.1|NM_001166704.1 NP_001160172.1|NP_001160173.1|NP_001160176.1 Q5XKR9 F104B_HUMAN family with sequence similarity 104, member B 0 p.R111*(5) endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 8 GCTTGCCCTCGCTGCTGCAGG 0.438000 11 275 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 7 270 0 0 1 0 0 PRSS3P2 0 broad.mit.edu 37 7 142478865 142478865 + RNA SNP T T C rs139176741 by1000genomes TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr7:142478865T>C ENST00000603901.1 + 0 26 NR_001296.3 ATCCTTGCCTTTGTGGGAGCT 0.567000 4 159 0 0 1 0 0 UBBP4 0 broad.mit.edu 37 17 21730916 21730916 + Missense_Mutation SNP G G T rs111245273 by1000genomes TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr17:21730916G>T ENST00000584755.1 + 2 615 c.218G>T c.(217-219)cGg>cTg p.R73L UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L|UBBP4_ENST00000583708.1_Intron p.R73L(24) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GTCCTGCGTCGGAGAGGTGGT 0.552000 6 472 0.0381472 0.0381472 1 1 0 TUBB8P7 0 broad.mit.edu 37 16 90162340 90162340 + RNA SNP C C T rs138169571 by1000genomes TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr16:90162340C>T ENST00000567960.1 + 0 1076 TUBB8P7_ENST00000564451.1_RNA p.R358W(1) CATCCCACTCCGGGGGCTAAA 0.478000 9 709 0 0 1 0 0 MUC21 394263 broad.mit.edu 37 6 30955025 30955025 + Missense_Mutation SNP G G A rs55763085 TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr6:30955025G>A ENST00000376296.3 + 2 1314 c.1073G>A c.(1072-1074)aGc>aAc p.S358N MUC21_ENST00000486149.2_5'UTR NM_001010909.2 NP_001010909.2 Q5SSG8 MUC21_HUMAN mucin 21, cell surface associated 358 28 X 15 AA approximate tandem repeats.|Ser-rich. integral to membrane|plasma membrane p.S358N(1) NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 AGTGGGGCCAGCACAGCCACC 0.642000 11 1292 0 0 1 0 0 GGT1 2678 broad.mit.edu 37 22 25016960 25016960 + Missense_Mutation SNP C C T rs151033935 by1000genomes TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr22:25016960C>T ENST00000400382.1 + 9 1411 c.656C>T c.(655-657)aCg>aTg p.T219M GGT1_ENST00000400383.1_Missense_Mutation_p.T219M|GGT1_ENST00000406383.2_Missense_Mutation_p.T219M|GGT1_ENST00000400380.1_Missense_Mutation_p.T219M|GGT1_ENST00000466310.1_Intron|GGT1_ENST00000248923.4_Missense_Mutation_p.T219M P19440 GGT1_HUMAN gamma-glutamyltransferase 1 219 glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity|protein binding breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 40 Glutathione(DB00143) ACCTACGAGACGCTGGCCATC 0.647000 6 147 0 0 1 0 0 NAF1 92345 broad.mit.edu 37 4 164050124 164050124 + Silent SNP T T G TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr4:164050124T>G ENST00000274054.2 - 8 1603 c.1410A>C c.(1408-1410)ccA>ccC p.P470P NAF1_ENST00000509434.1_Intron|NAF1_ENST00000422287.2_Intron NM_138386.2 NP_612395.2 Q96HR8 NAF1_HUMAN nuclear assembly factor 1 ribonucleoprotein 470 Pro-rich. rRNA processing|snRNA pseudouridine synthesis cytoplasm|nucleus|small nucleolar ribonucleoprotein complex protein binding|snoRNA binding NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2) 21 all_hematologic(180;0.166) Prostate(90;0.109) ggggagggggtgggggtaggg 0.522000 6 46 0 0 1 0 0 CTBP2 1488 broad.mit.edu 37 10 126678151 126678151 + Missense_Mutation SNP T T C TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr10:126678151T>C ENST00000309035.6 - 9 3024 c.2894A>G c.(2893-2895)cAa>cGa p.Q965R CTBP2_ENST00000337195.5_Missense_Mutation_p.Q425R|CTBP2_ENST00000494626.2_Missense_Mutation_p.Q425R|CTBP2_ENST00000531469.1_Missense_Mutation_p.Q425R|CTBP2_ENST00000411419.2_Missense_Mutation_p.Q425R|CTBP2_ENST00000334808.6_Missense_Mutation_p.Q493R NM_022802.2 NP_073713.2 P56545 CTBP2_HUMAN C-terminal binding protein 2 425 negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation cell junction|synapse|transcriptional repressor complex NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173) Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147) AGAGGGCGCTTGGGAAGGATG 0.567000 6 521 0 0 1 0 0 OR1S1 219959 broad.mit.edu 37 11 57982249 57982249 + Silent SNP C C T TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr11:57982249C>T ENST00000309433.6 + 1 33 c.33C>T c.(31-33)ggC>ggT p.G11G NM_001004458.1 NP_001004458.1 Q8NH92 OR1S1_HUMAN olfactory receptor, family 1, subfamily S, member 1 11 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) TTCAGATCGGCAGAAATATGC 0.393000 11 567 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195515980 195515980 + Nonsense_Mutation SNP G G T TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr3:195515980G>T ENST00000463781.3 - 2 2930 c.2471C>A c.(2470-2472)tCa>tAa p.S824* MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Nonsense_Mutation_p.S824* NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 829 Ser-rich. cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) CGTCTCTCCTGAGGTGGATAT 0.577000 41 469 3.54561e-26 3.80471e-26 1 1 0 OR1N2 138882 broad.mit.edu 37 9 125316158 125316158 + Missense_Mutation SNP G G A TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr9:125316158G>A ENST00000373688.2 + 1 768 c.710G>A c.(709-711)cGc>cAc p.R237H NM_001004457.1 NP_001004457.1 Q8NGR9 OR1N2_HUMAN olfactory receptor, family 1, subfamily N, member 2 237 R -> C (in dbSNP:rs41316976). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3) 26 TCCTATGTCCGCATTTTCTGG 0.517000 8 832 0 0 1 0 0 SLC6A19 340024 broad.mit.edu 37 5 1208876 1208876 + Missense_Mutation SNP C C T TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr5:1208876C>T ENST00000304460.10 + 2 274 c.218C>T c.(217-219)cCg>cTg p.P73L NM_001003841.2 NP_001003841.1 Q695T7 S6A19_HUMAN solute carrier family 6 (neutral amino acid transporter), member 19 73 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10) Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) TTCATGATCCCGTTCCTCATC 0.657000 54 658 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587730 43587730 + RNA SNP A A C rs142536398 by1000genomes TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr17:43587730A>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA GTATTGATTCATTTTATTCAT 0.343000 5 335 0 0 1 0 0 LAMP2 0 broad.mit.edu 37 X 119576496 119576496 + Missense_Mutation SNP G G T TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chrX:119576496G>T ENST00000371335.4 - 7 1022 c.886C>A c.(886-888)Ctg>Atg p.L296M LAMP2_ENST00000434600.2_Missense_Mutation_p.L296M|LAMP2_ENST00000200639.4_Missense_Mutation_p.L296M|LAMP2_ENST00000538785.1_Missense_Mutation_p.L185M|LAMP2_ENST00000540603.1_Missense_Mutation_p.L249M NM_013995.2 NP_054701.1 P13473 LAMP2_HUMAN lysosomal-associated membrane protein 2 296 Second lumenal domain. platelet activation|platelet degranulation endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2) 15 ACTTCCTTCAGATAAAATCGG 0.383000 87 1285 1.17673e-23 1.25788e-23 1 1 0 AQP7 364 broad.mit.edu 37 9 33385614 33385614 + Missense_Mutation SNP A A T rs140995428 by1000genomes TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr9:33385614A>T ENST00000541274.1 - 5 830 c.381T>A c.(379-381)agT>agA p.S127R AQP7_ENST00000377425.4_Intron|AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000539936.1_3'UTR O14520 AQP7_HUMAN aquaporin 7 0 excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) CCACAGAAAAACTCAAAGGAA 0.632000 10 526 0 0 1 0 0 IL34 146433 broad.mit.edu 37 16 70693984 70693984 + Missense_Mutation SNP C C T TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr16:70693984C>T ENST00000429149.2 + 7 1178 c.623C>T c.(622-624)gCg>gTg p.A208V IL34_ENST00000566361.1_Missense_Mutation_p.A183V|IL34_ENST00000288098.2_Missense_Mutation_p.A208V NM_001172771.1|NM_152456.2 NP_001166242.1|NP_689669.2 Q6ZMJ4 IL34_HUMAN interleukin 34 208 positive regulation of cell proliferation|positive regulation of protein phosphorylation extracellular space cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding p.A208V(1) breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2) 17 TTGCAGTATGCGGCCACCCAG 0.647000 8 924 0 0 1 0 0 CYP2F1 1572 broad.mit.edu 37 19 41633864 41633864 + Silent SNP C C T TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr19:41633864C>T ENST00000331105.2 + 10 1425 c.1353C>T c.(1351-1353)acC>acT p.T451T NM_000774.3 NP_000765.2 P24903 CP2F1_HUMAN cytochrome P450, family 2, subfamily F, polypeptide 1 451 naphthalene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2) 29 TGTACCTCACCGCCATCCTGC 0.647000 5 143 0 0 1 0 0 POLK 51426 broad.mit.edu 37 5 74893770 74893770 + Missense_Mutation SNP T T C TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr5:74893770T>C ENST00000241436.4 + 15 2712 c.2540T>C c.(2539-2541)aTg>aCg p.M847T POLK_ENST00000506928.1_3'UTR|POLK_ENST00000508526.1_Missense_Mutation_p.M649T|POLK_ENST00000504026.1_3'UTR|POLK_ENST00000380481.3_Missense_Mutation_p.M757T|POLK_ENST00000352007.5_Missense_Mutation_p.M649T NM_016218.2 NP_057302.1 Q9UBT6 POLK_HUMAN polymerase (DNA directed) kappa 847 M -> V (in Ref. 3; AAF23270). DNA replication|nucleotide-excision repair, DNA gap filling nucleus damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 27 all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42) CCAGGATTGATGACAAAGTAC 0.244000 DNA polymerases (catalytic subunits) 19 207 0 0 1 0 0 INCENP 3619 broad.mit.edu 37 11 61897787 61897787 + Missense_Mutation SNP C C T TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr11:61897787C>T ENST00000394818.3 + 4 990 c.788C>T c.(787-789)tCc>tTc p.S263F INCENP_ENST00000278849.4_Missense_Mutation_p.S263F NM_001040694.1 NP_001035784.1 Q9NQS7 INCE_HUMAN inner centromere protein antigens 135/155kDa 263 chromosome segregation|cytokinesis|mitotic prometaphase centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle protein binding breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 GCGCAGGTCTCCCCTGGCCCA 0.652000 37 496 0 0 1 0 0 MEGF8 1954 broad.mit.edu 37 19 42873053 42873053 + Silent SNP C C T TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr19:42873053C>T ENST00000334370.4 + 36 6974 c.6339C>T c.(6337-6339)gaC>gaT p.D2113D MEGF8_ENST00000251268.6_Silent_p.D2180D NM_001410.2 NP_001401.2 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 2180 PSI 6. integral to membrane calcium ion binding|structural molecule activity breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 Prostate(69;0.00682) CCCCTGAGGACGAGTGTGCAA 0.612000 31 460 0 0 1 0 0 SCAF8 22828 broad.mit.edu 37 6 155148314 155148314 + Missense_Mutation SNP C C T TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr6:155148314C>T ENST00000367178.3 + 18 2656 c.2080C>T c.(2080-2082)Ccg>Tcg p.P694S SCAF8_ENST00000417268.1_Missense_Mutation_p.P694S|SCAF8_ENST00000367186.4_Missense_Mutation_p.P760S NM_014892.3 NP_055707.3 Q9UPN6 SCAF8_HUMAN SR-related CTD-associated factor 8 694 Pro-rich. mRNA processing|RNA splicing nuclear matrix|spliceosomal complex nucleotide binding|RNA binding|RNA polymerase core enzyme binding breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 46 AGGTTTCATGCCGCCTCCAGT 0.368000 7 714 0 0 1 0 0 PANK4 55229 broad.mit.edu 37 1 2452588 2452588 + Frame_Shift_Del DEL C C - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr1:2452588delC ENST00000378466.3 - 3 386 c.374delG c.(373-375)gcfs p.G126fs PANK4_ENST00000435556.3_Frame_Shift_Del_p.G126fs NM_018216.1 NP_060686.1 Q9NVE7 PANK4_HUMAN pantothenate kinase 4 126 coenzyme A biosynthetic process cytoplasm ATP binding|pantothenate kinase activity breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 23 all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201) GTAGGCCCCGCCCCCGGTCGC 0.537 7 842 --- --- --- --- PLEKHG5 57449 broad.mit.edu 37 1 6536011 6536013 + In_Frame_Del DEL CTC CTC - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr1:6536011_6536013delCTC ENST00000377748.1 - 4 855_857 c.358_360delGAG c.(358-360)del p.E120del PLEKHG5_ENST00000544978.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000537245.1_In_Frame_Del_p.E122del|PLEKHG5_ENST00000400915.3_In_Frame_Del_p.E99del|PLEKHG5_ENST00000340850.5_In_Frame_Del_p.E43del|PLEKHG5_ENST00000535355.1_In_Frame_Del_p.E112del|PLEKHG5_ENST00000377725.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377732.1_In_Frame_Del_p.E80del|PLEKHG5_ENST00000377737.2_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377740.3_In_Frame_Del_p.E120del|PLEKHG5_ENST00000400913.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377728.3_In_Frame_Del_p.E43del NM_198681.3 NP_941374.2 O94827 PKHG5_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 5 99 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm Rho guanyl-nucleotide exchange factor activity|signal transducer activity liver(1) 1 Ovarian(185;0.02)|all_lung(157;0.154) all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448) Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419) CCACAGAGCTCTCCTCCTCCTCC 0.631 OREG0013041 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 742 --- --- --- --- PHF13 148479 broad.mit.edu 37 1 6680069 6680071 + In_Frame_Del DEL GAA GAA - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr1:6680069_6680071delGAA ENST00000377648.4 + 3 730_732 c.348_350delGAA c.(346-351)ctg>ct p.LK116del PHF13_ENST00000495385.1_Intron NM_153812.2 NP_722519.2 Q86YI8 PHF13_HUMAN PHD finger protein 13 116 cell division|chromatin modification|mitotic chromosome condensation nucleoplasm chromatin binding|methylated histone residue binding|zinc ion binding endometrium(3)|large_intestine(1)|lung(3) 7 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642) cggacaagctgaagaagaagaag 0.576 10 529 --- --- --- --- DNAJC11 55735 broad.mit.edu 37 1 6727803 6727804 + Frame_Shift_Del DEL TC TC - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr1:6727803_6727804delTC ENST00000377577.5 - 4 466_467 c.343_344delGA c.(343-345)afs p.E116fs DNAJC11_ENST00000294401.7_Frame_Shift_Del_p.E116fs|DNAJC11_ENST00000377573.5_Frame_Shift_Del_p.E26fs|DNAJC11_ENST00000542246.1_Frame_Shift_Del_p.E78fs|DNAJC11_ENST00000349363.6_Frame_Shift_Del_p.E78fs NM_018198.3 NP_060668.2 Q9NVH1 DJC11_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 11 116 protein folding heat shock protein binding|unfolded protein binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1) 32 Ovarian(185;0.0265)|all_lung(157;0.154) all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649) TCTCCTCTCTTCTCTCTCTCTC 0.505 21 289 --- --- --- --- RERE 473 broad.mit.edu 37 1 8716109 8716109 + Frame_Shift_Del DEL T T - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr1:8716109delT ENST00000337907.3 - 3 882 c.248delA c.(247-249)agfs p.K83fs RERE_ENST00000400907.2_Frame_Shift_Del_p.K83fs|RERE_ENST00000400908.2_Frame_Shift_Del_p.K83fs NM_012102.3 NP_036234.3 Q9P2R6 RERE_HUMAN arginine-glutamic acid dipeptide (RE) repeats 83 multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) ATAACGAGACTTTTTTTTCGG 0.453 11 1848 --- --- --- --- CROCCP2 0 broad.mit.edu 37 1 16953827 16953828 + RNA INS - - C rs57007114 TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr1:16953827_16953828insC ENST00000412962.1 - 0 477 TCACTTTCCTGCCCGAACCTCC 0.609 11 278 --- --- --- --- AHDC1 27245 broad.mit.edu 37 1 27875353 27875355 + In_Frame_Del DEL AGG AGG - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr1:27875353_27875355delAGG ENST00000374011.2 - 6 4240_4242 c.3272_3274delCCT c.(3271-3276)ttc>t p.SF1091del AHDC1_ENST00000247087.5_In_Frame_Del_p.SF1091del|AHDC1_ENST00000482400.2_Intron NM_001029882.2 NP_001025053.1 Q5TGY3 AHDC1_HUMAN AT hook, DNA binding motif, containing 1 1091 DNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291) GAGGGCTGGAaggaggaggagga 0.665 9 291 --- --- --- --- CCDC28B 79140 broad.mit.edu 37 1 32670247 32670248 + Frame_Shift_Del DEL TG TG - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr1:32670247_32670248delTG ENST00000421922.2 + 5 674_675 c.574_575delTG c.(574-576)tfs p.C192fs CCDC28B_ENST00000373602.5_Intron|CCDC28B_ENST00000483009.1_Intron Q9BUN5 CC28B_HUMAN coiled-coil domain containing 28B 0 large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2) 10 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) AACCCGTCTATGTGTGTGTGTT 0.500 10 1428 --- --- --- --- C1orf94 84970 broad.mit.edu 37 1 34666398 34666398 + Frame_Shift_Del DEL A A - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr1:34666398delA ENST00000488417.1 + 3 1155 c.1035delA c.(1033-1035)ccfs p.P345fs C1orf94_ENST00000373374.3_Frame_Shift_Del_p.P155fs NM_001134734.1 NP_001128206.1 Q6P1W5 CA094_HUMAN chromosome 1 open reading frame 94 155 protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2) 32 Myeloproliferative disorder(586;0.0393) CCAAGGAGCCAAAAAAGGGTC 0.572 7 701 --- --- --- --- IPP 3652 broad.mit.edu 37 1 46184897 46184898 + Frame_Shift_Del DEL AC AC - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr1:46184897_46184898delAC ENST00000396478.3 - 6 1265_1266 c.1163_1164delGT c.(1162-1164)tfs p.C388fs NM_005897.2 NP_005888.1 Q9Y573 IPP_HUMAN intracisternal A particle-promoted polypeptide 388 actin cytoskeleton|cytoplasm actin binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2) 20 Acute lymphoblastic leukemia(166;0.155) TAGCCCCATAACACACACACAC 0.347 16 448 --- --- --- --- CYP4Z2P 0 broad.mit.edu 37 1 47325313 47325315 + RNA DEL GTT GTT - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr1:47325313_47325315delGTT ENST00000505841.1 - 0 1204 NR_002788.2 AAAAAAAAAAGTTGTTTTAAGAC 0.409 11 363 --- --- --- --- SPATA1 100505741 broad.mit.edu 37 1 84988200 84988201 + RNA INS - - T TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr1:84988200_84988201insT ENST00000370638.2 + 0 526 spermatogenesis associated 1 breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|prostate(1) 10 Epithelial(280;4.36e-10)|all cancers(265;7.1e-09)|BRCA - Breast invasive adenocarcinoma(282;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(397;0.00286)|KIRC - Kidney renal clear cell carcinoma(1967;0.0111) GGTAAGTTTTCTTTTTTTTTCT 0.327 11 342 --- --- --- --- CTBS 1486 broad.mit.edu 37 1 85039999 85040007 + In_Frame_Del DEL GCAGCGCCA GCAGCGCCA - rs3217269 TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr1:85039999_85040007delGCAGCGCCA ENST00000370630.4 - 1 140_148 c.92_100delTGGCGCTGC c.(91-102)cgg>c p.LALR31del CTBS_ENST00000477677.1_5'UTR NM_004388.2 NP_004379.1 Q01459 DIAC_HUMAN chitobiase, di-N-acetyl- 31 lysosome cation binding breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1) 9 all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166) GCCGCGAGCCgcagcgccagcagcgccag 0.718 20 53 --- --- --- --- KCND3 3752 broad.mit.edu 37 1 112524444 112524445 + Frame_Shift_Ins INS - - G TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr1:112524444_112524445insG ENST00000369697.1 - 1 973_974 c.904_905insC c.(904-906)ccafs p.P302fs KCND3_ENST00000315987.2_Frame_Shift_Ins_p.P302fs|KCND3_ENST00000302127.4_Frame_Shift_Ins_p.P302fs Q9UK17 KCND3_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 3 302 sarcolemma|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|metal ion binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 49 all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05) all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231) CTGGGAGTGGCGGGAAAACTTG 0.579 23 529 --- --- --- --- ADAM30 11085 broad.mit.edu 37 1 120436591 120436591 + Frame_Shift_Del DEL T T - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr1:120436591delT ENST00000369400.1 - 1 2527 c.2369delA c.(2368-2370)agfs p.K790fs NM_021794.3 NP_068566.2 Q9UKF2 ADA30_HUMAN ADAM metallopeptidase domain 30 790 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2) 38 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138) Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117) GCCCGGTTACTTTTTTTGTTT 0.358 7 1558 --- --- --- --- RP11-782C8.2 0 broad.mit.edu 37 1 143210193 143210194 + RNA INS - - T TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr1:143210193_143210194insT ENST00000412204.2 - 0 876_877 RP11-782C8.1_ENST00000438000.1_lincRNA GGCAGCATTTGTTTTTTTAACA 0.317 15 587 --- --- --- --- ECM1 1893 broad.mit.edu 37 1 150482151 150482151 + Frame_Shift_Del DEL C C - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr1:150482151delC ENST00000369047.4 + 3 261 c.136delC c.(136-138)ccfs p.P47fs ECM1_ENST00000369049.4_Frame_Shift_Del_p.P47fs|ECM1_ENST00000346569.6_Frame_Shift_Del_p.P47fs|ECM1_ENST00000470432.1_3'UTR NM_004425.3 NP_004416.2 Q16610 ECM1_HUMAN extracellular matrix protein 1 47 angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade proteinaceous extracellular matrix laminin binding|protease binding|protein C-terminus binding|signal transducer activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1) 22 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) CTACGCAGCTCCCCCCTCCCC 0.587 7 1425 --- --- --- --- LINGO4 339398 broad.mit.edu 37 1 151773603 151773603 + Frame_Shift_Del DEL A A - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr1:151773603delA ENST00000368820.3 - 2 2515 c.1578delT c.(1576-1578)ttfs p.F526fs NM_001004432.2 NP_001004432.1 Q6UY18 LIGO4_HUMAN leucine rich repeat and Ig domain containing 4 526 integral to membrane breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 21 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) TGCTATCCAGAAAAAAAGGCC 0.582 14 1690 --- --- --- --- FLG 2312 broad.mit.edu 37 1 152286884 152286885 + Frame_Shift_Ins INS - - T TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr1:152286884_152286885insT ENST00000368799.1 - 3 512_513 c.477_478insA c.(475-480)aaaaagfs p.KK159fs FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 159 keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCTTTTCTTTCTTTTTTTTCAG 0.342 Ichthyosis 9 704 --- --- --- --- SPRR4 163778 broad.mit.edu 37 1 152944390 152944392 + In_Frame_Del DEL GCA GCA - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr1:152944390_152944392delGCA ENST00000328051.2 + 2 73_75 c.24_26delGCA c.(22-27)cgg>cg p.RQ8del NM_173080.1 NP_775103.1 Q96PI1 SPRR4_HUMAN small proline-rich protein 4 8 Gln-rich. keratinization|peptide cross-linking cell cortex lung(1)|prostate(1) 2 Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) agcagcagcggcagcagcagcag 0.552 10 780 --- --- --- --- TDRD10 126668 broad.mit.edu 37 1 154493908 154493908 + Frame_Shift_Del DEL C C - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr1:154493908delC ENST00000368482.4 + 6 1160 c.322delC c.(322-324)ccfs p.P109fs TDRD10_ENST00000479937.1_3'UTR|TDRD10_ENST00000368480.3_Frame_Shift_Del_p.P109fs NM_001098475.1|NM_182499.3 NP_001091945.1|NP_872305.3 Q5VZ19 TDR10_HUMAN tudor domain containing 10 109 nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) AAGCAAAAGGCCCCCCAAGAG 0.522 7 2527 --- --- --- --- KIAA0907 22889 broad.mit.edu 37 1 155886422 155886423 + Frame_Shift_Del DEL CT CT - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr1:155886422_155886423delCT ENST00000368320.3 - 12 1571_1572 c.1546_1547delAG c.(1546-1548)gfs p.R516fs KIAA0907_ENST00000368321.3_Frame_Shift_Del_p.R516fs Q7Z7F0 K0907_HUMAN KIAA0907 516 p.R516fs*21(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1) 21 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) TTACCTGTCCCTCTCTCTCTCT 0.396 21 1043 --- --- --- --- NES 10763 broad.mit.edu 37 1 156642804 156642804 + Frame_Shift_Del DEL G G - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr1:156642804delG ENST00000368223.3 - 4 1308 c.1176delC c.(1174-1176)ccfs p.P392fs NM_006617.1 NP_006608.1 P48681 NEST_HUMAN nestin 392 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CCTGAGGTGTGGGGGGGATGG 0.597 8 1233 --- --- --- --- OR10Z1 128368 broad.mit.edu 37 1 158576487 158576487 + Frame_Shift_Del DEL G G - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr1:158576487delG ENST00000361284.1 + 1 259 c.259delG c.(259-261)ggfs p.G88fs NM_001004478.1 NP_001004478.1 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, member 1 88 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4) 37 all_hematologic(112;0.0378) TGGCCTGGCTGGGGGGGACCA 0.552 7 1538 --- --- --- --- LMX1A 4009 broad.mit.edu 37 1 165177332 165177334 + In_Frame_Del DEL TGC TGC - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr1:165177332_165177334delTGC ENST00000342310.3 - 7 1165_1167 c.783_785delGCA c.(781-786)caa>ca p.QQ261del LMX1A_ENST00000367893.4_In_Frame_Del_p.QQ261del|LMX1A_ENST00000294816.2_In_Frame_Del_p.QQ261del|LMX1A_ENST00000489443.2_5'UTR NM_177398.3 NP_796372.1 Q8TE12 LMX1A_HUMAN LIM homeobox transcription factor 1, alpha 261 Gln-rich.|Poly-Gln. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4) 35 all_hematologic(923;0.248) CTGCTGATCTTGCTGCTGCTGCT 0.567 11 318 --- --- --- --- POU2F1 5451 broad.mit.edu 37 1 167385016 167385018 + In_Frame_Del DEL CCA CCA - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr1:167385016_167385018delCCA ENST00000367862.5 + 16 2472_2474 c.2237_2239delCCA c.(2236-2241)tcc>t p.ST746del POU2F1_ENST00000541643.3_In_Frame_Del_p.ST734del|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000420254.3_Intron|POU2F1_ENST00000367866.2_In_Frame_Del_p.ST757del|POU2F1_ENST00000429375.2_In_Frame_Del_p.ST694del NM_001198783.1 NP_001185712.1 P14859 PO2F1_HUMAN POU class 2 homeobox 1 734 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 30 GGGGCTGCGTCCACCACCACCAC 0.601 12 1357 --- --- --- --- TOR1AIP1 26092 broad.mit.edu 37 1 179886675 179886675 + Frame_Shift_Del DEL T T - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr1:179886675delT ENST00000435319.3 + 10 1244 c.1053delT c.(1051-1053)agfs p.S351fs TOR1AIP1_ENST00000271583.3_Frame_Shift_Del_p.S367fs|TOR1AIP1_ENST00000474875.1_3'UTR NM_001267578.1|NM_015602.3 NP_001254507.1|NP_056417.2 Q5JTV8 TOIP1_HUMAN torsin A interacting protein 1 351 integral to membrane|nuclear inner membrane breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1) 18 CCTCTGGGAGTTTTTGGTTCT 0.443 7 1030 --- --- --- --- SMG7 9887 broad.mit.edu 37 1 183515266 183515267 + Frame_Shift_Ins INS - - A TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr1:183515266_183515267insA ENST00000367537.3 + 18 2680_2681 c.2485_2486insA c.(2485-2487)aaafs p.K829fs SMG7_ENST00000347615.2_Frame_Shift_Ins_p.K846fs|SMG7_ENST00000507469.1_Frame_Shift_Ins_p.K800fs|SMG7_ENST00000456731.2_Frame_Shift_Ins_p.K758fs|SMG7_ENST00000515829.2_Frame_Shift_Ins_p.K800fs|SMG7_ENST00000508461.1_Frame_Shift_Ins_p.K804fs Q92540 SMG7_HUMAN SMG7 nonsense mediated mRNA decay factor 846 Gln/Pro-rich. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|intermediate filament cytoskeleton|nucleus protein phosphatase 2A binding p.?(1) breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 GCAGCCTCTAGAAAAAAAAATG 0.450 16 610 --- --- --- --- PRG4 10216 broad.mit.edu 37 1 186276542 186276544 + In_Frame_Del DEL CTC CTC - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr1:186276542_186276544delCTC ENST00000445192.2 + 7 1736_1738 c.1691_1693delCTC c.(1690-1695)acc>a p.TP564del PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_In_Frame_Del_p.TP521del|PRG4_ENST00000367485.4_In_Frame_Del_p.TP471del|PRG4_ENST00000367483.4_In_Frame_Del_p.TP523del NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 564 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 GCACCCACCACTCCCAAGGAGCC 0.640 14 1303 --- --- --- --- IPO9 55705 broad.mit.edu 37 1 201843998 201844000 + In_Frame_Del DEL GAG GAG - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr1:201843998_201844000delGAG ENST00000361565.4 + 22 2941_2943 c.2872_2874delGAG c.(2872-2874)del p.E962del NM_018085.4 NP_060555.2 Q96P70 IPO9_HUMAN importin 9 962 protein import into nucleus cytoplasm|nucleus histone binding|protein transporter activity cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 38 ggaggaggaagaggaggaggagg 0.443 14 563 --- --- --- --- PPP1R12B 4660 broad.mit.edu 37 1 202407189 202407190 + Frame_Shift_Ins INS - - T TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr1:202407189_202407190insT ENST00000480184.1 + 10 1627_1628 c.1495_1496insT c.(1495-1497)tttfs p.F499fs PPP1R12B_ENST00000336894.4_Intron|PPP1R12B_ENST00000356764.2_3'UTR|PPP1R12B_ENST00000406302.3_Intron NM_001167857.1 NP_001161329.1 O60237 MYPT2_HUMAN protein phosphatase 1, regulatory subunit 12B 499 regulation of muscle contraction|signal transduction cytoplasm enzyme activator activity central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(75;0.166) TTCCAAGGCAGTTTTTTTTTTC 0.391 12 271 --- --- --- --- CR2 1380 broad.mit.edu 37 1 207642044 207642044 + Frame_Shift_Del DEL C C - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr1:207642044delC ENST00000367057.3 + 3 807 c.618delC c.(616-618)gtfs p.V206fs CR2_ENST00000485707.1_3'UTR|CR2_ENST00000458541.2_Frame_Shift_Del_p.V206fs|CR2_ENST00000367058.3_Frame_Shift_Del_p.V206fs|CR2_ENST00000367059.3_Frame_Shift_Del_p.V206fs NM_001006658.2 NP_001006659.1 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) receptor 2 206 Sushi 3. complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity p.T209fs*10(1) NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1) 69 GGAGTGCTGTCCCCCCCACAT 0.398 7 1145 --- --- --- --- EPHX1 2052 broad.mit.edu 37 1 226026384 226026384 + Frame_Shift_Del DEL C C - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr1:226026384delC ENST00000366837.4 + 4 590 c.394delC c.(394-396)ccfs p.P133fs EPHX1_ENST00000272167.5_Frame_Shift_Del_p.P133fs NM_000120.3 NP_000111.1 P07099 HYEP_HUMAN epoxide hydrolase 1, microsomal (xenobiotic) 133 aromatic compound catabolic process|response to toxin endoplasmic reticulum membrane|integral to membrane|microsome cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 28 Breast(184;0.197) CCACGTGAAGCCCCCCCAGCT 0.627 11 1488 --- --- --- --- MTR 4548 broad.mit.edu 37 1 237024474 237024474 + Frame_Shift_Del DEL A A - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr1:237024474delA ENST00000366577.5 + 20 2487 c.2093delA c.(2092-2094)cafs p.Q698fs MTR_ENST00000535889.1_Intron NM_000254.2 NP_000245.2 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase 698 B12-binding N-terminal. nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 67 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117) OV - Ovarian serous cystadenocarcinoma(106;0.0106) KIRC - Kidney renal clear cell carcinoma(1967;0.248) Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) AGGTTAAACCAAAAAAAATAT 0.308 10 452 --- --- --- --- FMN2 56776 broad.mit.edu 37 1 240255569 240255571 + In_Frame_Del DEL GGC GGC - rs71929261 TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr1:240255569_240255571delGGC ENST00000319653.9 + 1 390_392 c.160_162delGGC c.(160-162)del p.G59del NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 59 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding p.G197delG(1) NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) GGGGGGAgggggcggcggcggcg 0.665 41 47 --- --- --- --- OR2T2 401992 broad.mit.edu 37 1 248616705 248616711 + Frame_Shift_Del DEL TGCTGCG TGCTGCG - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr1:248616705_248616711delTGCTGCG ENST00000342927.3 + 1 629_635 c.607_613delTGCTGCG c.(607-615)tgfs p.CCV203fs NM_001004136.1 NP_001004136.1 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, member 2 203 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 37 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GATGTATGCCTGCTGCGTGCTGATGCT 0.527 10 245 --- --- --- --- ATP6V1C2 245973 broad.mit.edu 37 2 10917819 10917820 + Frame_Shift_Del DEL AG AG - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr2:10917819_10917820delAG ENST00000272238.4 + 11 1043_1044 c.934_935delAG c.(934-936)afs p.R312fs ATP6V1C2_ENST00000381661.3_Intron NM_001039362.1 NP_001034451.1 Q8NEY4 VATC2_HUMAN ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 312 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|proton-transporting V-type ATPase, V1 domain endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152) GCAGACCGACAGAGAGAGAGAG 0.604 20 607 --- --- --- --- ASXL2 55252 broad.mit.edu 37 2 26022304 26022306 + In_Frame_Del DEL CTG CTG - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr2:26022304_26022306delCTG ENST00000435504.4 - 5 644_646 c.351_353delCAG c.(349-354)agt>ag p.SS117del ASXL2_ENST00000336112.4_In_Frame_Del_p.SS89del|ASXL2_ENST00000272341.4_5'UTR|ASXL2_ENST00000497092.1_5'UTR Q76L83 ASXL2_HUMAN additional sex combs like 2 (Drosophila) 117 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCCACCATCACTGCTGCTGCTGC 0.463 15 795 --- --- --- --- RTN4 57142 broad.mit.edu 37 2 55253745 55253746 + Frame_Shift_Ins INS - - T TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr2:55253745_55253746insT ENST00000337526.6 - 3 1732_1733 c.1489_1490insA c.(1489-1491)agafs p.R497fs RTN4_ENST00000402434.2_Intron|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000404909.1_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000394611.2_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000357376.3_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000354474.6_Frame_Shift_Ins_p.R265fs|RTN4_ENST00000405240.1_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000357732.4_Intron NM_020532.4 NP_065393.1 Q9NQC3 RTN4_HUMAN reticulon 4 497 apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1) 36 CTTTTCTTCTATTTTTTTTTCA 0.381 15 526 --- --- --- --- RAB11FIP5 26056 broad.mit.edu 37 2 73315337 73315339 + In_Frame_Del DEL TGG TGG - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr2:73315337_73315339delTGG ENST00000258098.6 - 3 1647_1649 c.1407_1409delCCA c.(1405-1410)caa>ca p.HQ469del RAB11FIP5_ENST00000493523.2_5'UTR NM_015470.2 NP_056285.1 Q9BXF6 RFIP5_HUMAN RAB11 family interacting protein 5 (class I) 469 protein transport mitochondrial outer membrane|recycling endosome membrane gamma-tubulin binding biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 23 ACTTAGGCCTTGGTGGTGGTGGT 0.635 7 951 --- --- --- --- SLC4A5 57835 broad.mit.edu 37 2 74451994 74451994 + Frame_Shift_Del DEL T T - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr2:74451994delT ENST00000394019.2 - 28 3616 c.3219delA c.(3217-3219)aafs p.K1073fs SLC4A5_ENST00000423644.1_3'UTR|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000377632.1_Frame_Shift_Del_p.K992fs|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377634.4_Frame_Shift_Del_p.K1089fs|SLC4A5_ENST00000359484.4_Frame_Shift_Del_p.K971fs|SLC4A5_ENST00000358683.4_Frame_Shift_Del_p.K971fs|SLC4A5_ENST00000357822.5_Frame_Shift_Del_p.K1089fs|SLC4A5_ENST00000346834.4_Frame_Shift_Del_p.K992fs NM_133478.2 NP_597812.1 Q9BY07 S4A5_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 5 1089 apical plasma membrane|integral to membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 CGTGGGCCCCTTTTTTTCTCT 0.517 8 1144 --- --- --- --- ANKRD36BP2 0 broad.mit.edu 37 2 89083945 89083946 + RNA INS - - GC TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr2:89083945_89083946insGC ENST00000393525.3 + 0 576 GTATTCCTTTTTTTTCAGTGTA 0.347 13 33 --- --- --- --- ANKRD36BP2 0 broad.mit.edu 37 2 89102192 89102194 + RNA DEL AAG AAG - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr2:89102192_89102194delAAG ENST00000393525.3 + 0 2666_2668 GTTTAATAATAAGGTGATTTGTA 0.330 7 49 --- --- --- --- AC027612.3 0 broad.mit.edu 37 2 91887904 91887905 + RNA INS - - T TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr2:91887904_91887905insT ENST00000436174.1 - 0 540 AGCTATTTTCCATTTTTTTTTT 0.292 11 232 --- --- --- --- ANKRD20A8P 0 broad.mit.edu 37 2 95519511 95519512 + RNA INS - - TACT TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr2:95519511_95519512insTACT ENST00000432432.2 - 0 316 NR_040113.1 TTCAAAACAAATAATTTTTTTG 0.307 9 113 --- --- --- --- SLC9A4 389015 broad.mit.edu 37 2 103149137 103149137 + Frame_Shift_Del DEL A A - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr2:103149137delA ENST00000295269.4 + 12 2844 c.2387delA c.(2386-2388)cafs p.Q796fs NM_001011552.3 NP_001011552.2 Q6AI14 SL9A4_HUMAN solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4 796 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 CCTTTGCTCCAAAAAAAATAG 0.473 8 231 --- --- --- --- SLC20A1 6574 broad.mit.edu 37 2 113416607 113416608 + Frame_Shift_Del DEL AG AG - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr2:113416607_113416608delAG ENST00000272542.3 + 7 1523_1524 c.984_985delAG c.(982-987)ccagfs p.PE328fs SLC20A1_ENST00000480984.1_3'UTR NM_005415.4 NP_005406.3 Q8WUM9 S20A1_HUMAN solute carrier family 20 (phosphate transporter), member 1 328 phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to plasma membrane inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity p.R332fs*14(1) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3) 28 AGGAAGCTCCAGAGAGAGAGAG 0.515 9 447 --- --- --- --- LRP1B 53353 broad.mit.edu 37 2 141625833 141625833 + Splice_Site DEL C C - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr2:141625833delC ENST00000389484.3 - 26 5141 c.e26-1 NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GAAAAGAATTCTaaaaaaaaa 0.343 TSP Lung(27;0.18) 19 233 --- --- --- --- LRP1B 53353 broad.mit.edu 37 2 141665484 141665484 + Frame_Shift_Del DEL T T - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr2:141665484delT ENST00000389484.3 - 22 4453 c.3482delA c.(3481-3483)agfs p.K1161fs NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1161 LDL-receptor class A 10. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) AGGACAATCCTTTTTCCCATT 0.443 TSP Lung(27;0.18) 7 1157 --- --- --- --- ERMN 57471 broad.mit.edu 37 2 158178062 158178064 + In_Frame_Del DEL ATC ATC - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr2:158178062_158178064delATC ENST00000410096.1 - 3 865_867 c.574_576delGAT c.(574-576)del p.D192del ERMN_ENST00000420719.2_In_Frame_Del_p.D172del|ERMN_ENST00000535935.1_In_Frame_Del_p.D86del|ERMN_ENST00000397283.2_In_Frame_Del_p.D205del NM_020711.1 NP_065762.1 Q8TAM6 ERMIN_HUMAN ermin, ERM-like protein 192 Poly-Asp. cytoplasm|cytoskeleton endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 tattgcaattatcatcatcatca 0.365 7 661 --- --- --- --- SCN9A 6335 broad.mit.edu 37 2 167055992 167055992 + Frame_Shift_Del DEL T T - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr2:167055992delT ENST00000303354.6 - 27 5500 c.5160delA c.(5158-5160)aafs p.K1720fs SCN9A_ENST00000409435.1_Frame_Shift_Del_p.K1719fs|SCN9A_ENST00000409672.1_Frame_Shift_Del_p.K1708fs|SCN9A_ENST00000375387.4_Frame_Shift_Del_p.K1720fs|AC010127.3_ENST00000447809.2_RNA Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 1719 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) CAGGATGAACTTTTTTTGGGT 0.423 11 2134 --- --- --- --- DNAH7 56171 broad.mit.edu 37 2 196788374 196788374 + Frame_Shift_Del DEL T T - rs140194798 TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr2:196788374delT ENST00000312428.6 - 23 3870 c.3770delA c.(3769-3771)atfs p.N1257fs NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1257 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 ATCGCTAATATTTTTTTTTAC 0.418 10 377 --- --- --- --- GTF3C3 9330 broad.mit.edu 37 2 197649613 197649614 + Frame_Shift_Ins INS - - T TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr2:197649613_197649614insT ENST00000263956.3 - 8 1170_1171 c.1081_1082insA c.(1081-1083)ttcfs p.F361fs GTF3C3_ENST00000409364.3_Frame_Shift_Ins_p.F361fs NM_012086.4 NP_036218.1 Q9Y5Q9 TF3C3_HUMAN general transcription factor IIIC, polypeptide 3, 102kDa 361 transcription factor TFIIIC complex DNA binding|protein binding breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 TTCTTCTGAAGTTTTTTTTTCC 0.337 9 272 --- --- --- --- CYP20A1 57404 broad.mit.edu 37 2 204150380 204150380 + Frame_Shift_Del DEL A A - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr2:204150380delA ENST00000356079.4 + 9 1019 c.896delA c.(895-897)cafs p.Q299fs CYP20A1_ENST00000461371.1_3'UTR|CYP20A1_ENST00000429815.2_Frame_Shift_Del_p.Q307fs NM_177538.2 NP_803882.1 Q6UW02 CP20A_HUMAN cytochrome P450, family 20, subfamily A, polypeptide 1 299 integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 11 GAAGAAGTTCAAAAAAAATTA 0.348 7 512 --- --- --- --- ZDBF2 57683 broad.mit.edu 37 2 207174869 207174869 + Frame_Shift_Del DEL A A - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr2:207174869delA ENST00000374423.3 + 5 6003 c.5617delA c.(5617-5619)aafs p.K1875fs NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 1875 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 TTCGAAGGGGAAAAAAAAGGT 0.413 11 258 --- --- --- --- TNS1 7145 broad.mit.edu 37 2 218712887 218712889 + In_Frame_Del DEL GCT GCT - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr2:218712887_218712889delGCT ENST00000171887.4 - 17 2428_2430 c.1976_1978delAGC c.(1975-1980)cct>c p.QP659del TNS1_ENST00000430930.1_In_Frame_Del_p.QP659del|TNS1_ENST00000419504.1_In_Frame_Del_p.QP659del NM_022648.4 NP_072174.3 Q9HBL0 TENS1_HUMAN tensin 1 659 Gln-rich. cytoplasm|cytoskeleton|focal adhesion actin binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) GGTGGGCGAGgctgctgctgctg 0.660 9 151 --- --- --- --- FAM134A 79137 broad.mit.edu 37 2 220046969 220046969 + Frame_Shift_Del DEL C C - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr2:220046969delC ENST00000430297.2 + 9 1386 c.1250delC c.(1249-1251)tcfs p.S417fs NM_024293.4 NP_077269.3 Q8NC44 F134A_HUMAN family with sequence similarity 134, member A 417 endoplasmic reticulum|integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2) 19 Renal(207;0.0915) Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGGGCAGGGTCCCCCCCAGAT 0.602 9 1414 --- --- --- --- SLC4A3 6508 broad.mit.edu 37 2 220496799 220496801 + In_Frame_Del DEL GAA GAA - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr2:220496799_220496801delGAA ENST00000358055.3 + 7 1433_1435 c.921_923delGAA c.(919-924)agg>ag p.RK307del SLC4A3_ENST00000373760.2_In_Frame_Del_p.RK307del|SLC4A3_ENST00000273063.6_In_Frame_Del_p.RK334del|SLC4A3_ENST00000317151.3_In_Frame_Del_p.RK307del|SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000373762.3_In_Frame_Del_p.RK334del P48751 B3A3_HUMAN solute carrier family 4 (anion exchanger), member 3 307 bicarbonate transport integral to plasma membrane|membrane fraction inorganic anion exchanger activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 51 Renal(207;0.0183) Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TCCTTCGCAGGAAGAAGAAGAAG 0.650 8 593 --- --- --- --- GAL3ST2 64090 broad.mit.edu 37 2 242738494 242738496 + In_Frame_Del DEL TCC TCC - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr2:242738494_242738496delTCC ENST00000192314.6 + 2 175_177 c.44_46delTCC c.(43-48)atc>a p.IL15del NM_022134.2 NP_071417.2 Q9H3Q3 G3ST2_HUMAN galactose-3-O-sulfotransferase 2 15 biosynthetic process Golgi cisterna membrane|integral to membrane galactosylceramide sulfotransferase activity p.L16I(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1) 14 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833) TTCCGGGTCATCCTCCTCCTCCT 0.631 14 631 --- --- --- --- AC022007.5 0 broad.mit.edu 37 3 10049093 10049094 + RNA INS - - G TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr3:10049093_10049094insG ENST00000383808.2 - 0 904_905 GGGTCAGTGGCGGGGTGTGGTC 0.589 8 512 --- --- --- --- LIMD1 8994 broad.mit.edu 37 3 45636543 45636545 + In_Frame_Del DEL CAG CAG - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr3:45636543_45636545delCAG ENST00000273317.4 + 1 193_195 c.172_174delCAG c.(172-174)del p.Q63del LIMD1_ENST00000465039.1_Intron|LIMD1_ENST00000440097.1_In_Frame_Del_p.Q63del NM_014240.2 NP_055055.1 Q9UGP4 LIMD1_HUMAN LIM domains containing 1 63 Mediates nuclear export. cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex protein binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1) 10 BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315) AATCCACCTCCAGCAGCAGCAGC 0.626 7 296 --- --- --- --- QRICH1 54870 broad.mit.edu 37 3 49094314 49094316 + In_Frame_Del DEL TGC TGC - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr3:49094314_49094316delTGC ENST00000395443.2 - 3 1789_1791 c.1317_1319delGCA c.(1315-1320)caa>ca p.QQ439del QRICH1_ENST00000357496.2_In_Frame_Del_p.QQ439del|QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000424300.1_In_Frame_Del_p.QQ439del NM_198880.1 NP_942581.1 Q2TAL8 QRIC1_HUMAN glutamine-rich 1 439 Gln-rich. breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1) 25 BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) AACTTGGAgttgctgctgctgct 0.562 7 526 --- --- --- --- RBM15B 29890 broad.mit.edu 37 3 51430822 51430824 + In_Frame_Del DEL CCA CCA - rs147738916 byFrequency TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr3:51430822_51430824delCCA ENST00000323686.4 + 1 2092_2094 c.1992_1994delCCA c.(1990-1995)ggc>gg p.GH664del NM_013286.4 NP_037418.3 Q8NDT2 RB15B_HUMAN RNA binding motif protein 15B 664 His-rich. interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent nucleoplasm nucleotide binding|protein binding|RNA binding endometrium(4)|large_intestine(5)|lung(3) 12 BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) AGGAACGGGGCCACCACCACCAC 0.635 7 283 --- --- --- --- ERC2 26059 broad.mit.edu 37 3 55733470 55733472 + In_Frame_Del DEL TGG TGG - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr3:55733470_55733472delTGG ENST00000288221.6 - 16 3036_3038 c.2781_2783delCCA c.(2779-2784)cat>ca p.HH931del NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 931 Poly-His. cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) gtggtggtgatggtggtggtggt 0.502 7 1520 --- --- --- --- RP11-325B23.2 0 broad.mit.edu 37 3 98031434 98031434 + RNA DEL A A - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr3:98031434delA ENST00000508616.1 + 0 149 OR5H8P_ENST00000394191.2_RNA TTACAATCTTAAAAAAAAAAG 0.333 12 116 --- --- --- --- LNP1 348801 broad.mit.edu 37 3 100148586 100148588 + In_Frame_Del DEL GAT GAT - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr3:100148586_100148588delGAT ENST00000383693.3 + 2 1293_1295 c.13_15delGAT c.(13-15)del p.D10del LNP1_ENST00000489752.1_In_Frame_Del_p.D10del NM_001085451.1 NP_001078920.1 A1A4G5 LNP1_HUMAN leukemia NUP98 fusion partner 1 10 Poly-Asp. cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 6 GGAGCACAAAGATGATGATGATG 0.507 12 1986 --- --- --- --- IQCB1 9657 broad.mit.edu 37 3 121515999 121515999 + Frame_Shift_Del DEL A A - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr3:121515999delA ENST00000310864.6 - 9 1056 c.842delT c.(841-843)tafs p.L281fs IQCB1_ENST00000349820.6_Intron NM_001023570.2 NP_001018864.2 Q15051 IQCB1_HUMAN IQ motif containing B1 281 cilium assembly|maintenance of organ identity|photoreceptor cell maintenance centrosome|photoreceptor connecting cilium calmodulin binding NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1) 30 GBM - Glioblastoma multiforme(114;0.0983) CATTGGGCTTAAAAGGCCAAC 0.358 8 693 --- --- --- --- MED12L 116931 broad.mit.edu 37 3 150877786 150877786 + Frame_Shift_Del DEL C C - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr3:150877786delC ENST00000474524.1 + 7 1043 c.1005delC c.(1003-1005)ggfs p.G335fs MED12L_ENST00000309237.4_Frame_Shift_Del_p.G335fs|MED12L_ENST00000422248.2_Frame_Shift_Del_p.G335fs|MED12L_ENST00000273432.4_Intron NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 335 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CCAGCCCTGGCCCCCCCGGCC 0.582 8 1092 --- --- --- --- MED12L 116931 broad.mit.edu 37 3 151148114 151148116 + In_Frame_Del DEL CAG CAG - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr3:151148114_151148116delCAG ENST00000474524.1 + 42 6369_6371 c.6331_6333delCAG c.(6331-6333)del p.Q2115del MED12L_ENST00000273432.4_In_Frame_Del_p.Q1779del NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 2115 Gln-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex p.Q2111E(1) NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GCAGCAGACCCAGCAGCAGCAGC 0.527 8 525 --- --- --- --- DHX36 170506 broad.mit.edu 37 3 154032977 154032978 + Frame_Shift_Ins INS - - T TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr3:154032977_154032978insT ENST00000496811.1 - 3 540_541 c.460_461insA c.(460-462)gttfs p.V154fs DHX36_ENST00000308361.6_Frame_Shift_Ins_p.V154fs|DHX36_ENST00000544526.1_Frame_Shift_Ins_p.V154fs|DHX36_ENST00000329463.5_Frame_Shift_Ins_p.V154fs NM_020865.2 NP_065916.2 Q9H2U1 DHX36_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 36 154 cytoplasm|nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1) 35 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) GATTCTAAACATTTTTTTTTCT 0.337 9 305 --- --- --- --- BCHE 590 broad.mit.edu 37 3 165548196 165548196 + Frame_Shift_Del DEL T T - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr3:165548196delT ENST00000264381.3 - 2 792 c.626delA c.(625-627)atfs p.N209fs BCHE_ENST00000540653.1_Intron NM_000055.2 NP_000046.1 P06276 CHLE_HUMAN butyrylcholinesterase 209 choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic endoplasmic reticulum lumen|extracellular space|membrane acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1) 55 Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116) GGCTGCTATATTTTTTTGAAC 0.458 7 745 --- --- --- --- PHC3 80012 broad.mit.edu 37 3 169896635 169896637 + In_Frame_Del DEL TGG TGG - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr3:169896635_169896637delTGG ENST00000494943.1 - 2 136_138 c.68_70delCCA c.(67-72)atc>a p.TI23del PHC3_ENST00000497658.1_In_Frame_Del_p.TI35del|PHC3_ENST00000481639.1_In_Frame_Del_p.TI35del|PHC3_ENST00000467570.1_In_Frame_Del_p.TI35del|PHC3_ENST00000474275.1_In_Frame_Del_p.TI23del|PHC3_ENST00000495893.1_In_Frame_Del_p.TI35del Q8NDX5 PHC3_HUMAN polyhomeotic homolog 3 (Drosophila) 23 Poly-Thr. multicellular organismal development PcG protein complex DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2) 26 all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655) GAAgtggtgatggtggtggtggt 0.493 14 1686 --- --- --- --- LEPREL1 55214 broad.mit.edu 37 3 189700870 189700870 + Frame_Shift_Del DEL T T - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr3:189700870delT ENST00000319332.5 - 8 1486 c.1289delA c.(1288-1290)agfs p.K430fs LEPREL1_ENST00000427335.2_Frame_Shift_Del_p.K249fs NM_018192.3 NP_060662.2 Q8IVL5 P3H2_HUMAN leprecan-like 1 430 collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation basement membrane|endoplasmic reticulum|Golgi apparatus 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 NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5) 41 all_cancers(143;4.01e-10)|Ovarian(172;0.0925) Lung(62;4.35e-05) GBM - Glioblastoma multiforme(93;0.02) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) GGGTGATAGCTTTTTTCCCAT 0.438 8 989 --- --- --- --- ATP13A3 79572 broad.mit.edu 37 3 194147850 194147850 + Frame_Shift_Del DEL A A - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr3:194147850delA ENST00000439040.1 - 29 3870 c.3079delT c.(3079-3081)ggfs p.W1027fs ATP13A3_ENST00000256031.4_Frame_Shift_Del_p.W1027fs Q9H7F0 AT133_HUMAN ATPase type 13A3 1027 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 24 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) TGTTTGACCCAAAAAAAACCC 0.383 9 390 --- --- --- --- CPLX1 10815 broad.mit.edu 37 4 786363 786363 + Frame_Shift_Del DEL C C - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr4:786363delC ENST00000304062.6 - 3 296 c.65delG c.(64-66)gtfs p.G22fs CPLX1_ENST00000505203.1_Frame_Shift_Del_p.G22fs NM_006651.3 NP_006642.1 O14810 CPLX1_HUMAN complexin 1 22 glutamate secretion cytosol kidney(1)|lung(2) 3 Colorectal(103;0.187) CTCCTCGTCACCCCCCAGCAT 0.642 7 765 --- --- --- --- PROM1 8842 broad.mit.edu 37 4 15995680 15995680 + Frame_Shift_Del DEL T T - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr4:15995680delT ENST00000505450.1 - 15 2282 c.1670delA c.(1669-1671)atfs p.N557fs PROM1_ENST00000543373.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000510224.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000540805.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000539194.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000508167.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000447510.2_Frame_Shift_Del_p.N566fs NM_001145848.1 NP_001139320.1 O43490 PROM1_HUMAN prominin 1 566 camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane beta-actinin binding|cadherin binding breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2) 35 AGTGCCTCTATTTTTTTTGCA 0.428 9 598 --- --- --- --- LIMCH1 22998 broad.mit.edu 37 4 41648634 41648634 + Frame_Shift_Del DEL A A - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr4:41648634delA ENST00000313860.7 + 12 1443 c.1389delA c.(1387-1389)ccfs p.P463fs LIMCH1_ENST00000509277.1_Frame_Shift_Del_p.P297fs|LIMCH1_ENST00000503057.1_Frame_Shift_Del_p.P848fs|LIMCH1_ENST00000396595.3_Frame_Shift_Del_p.P309fs|LIMCH1_ENST00000512946.1_Frame_Shift_Del_p.P463fs|LIMCH1_ENST00000512632.1_Frame_Shift_Del_p.P463fs|LIMCH1_ENST00000512820.1_Frame_Shift_Del_p.P451fs|LIMCH1_ENST00000513024.1_Frame_Shift_Del_p.P292fs|LIMCH1_ENST00000381753.4_Frame_Shift_Del_p.P297fs|LIMCH1_ENST00000508501.1_Frame_Shift_Del_p.P463fs|LIMCH1_ENST00000514096.1_Frame_Shift_Del_p.P304fs|LIMCH1_ENST00000511496.1_Frame_Shift_Del_p.P304fs NM_014988.2 NP_055803.2 Q9UPQ0 LIMC1_HUMAN LIM and calponin homology domains 1 463 actomyosin structure organization actin binding|zinc ion binding central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5) 41 TGGAGATGCCAAAAATTCTGG 0.498 8 1544 --- --- --- --- BMP2K 55589 broad.mit.edu 37 4 79792161 79792169 + In_Frame_Del DEL CAGCACCAC CAGCACCAC - rs2114202 byFrequency TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr4:79792161_79792169delCAGCACCAC ENST00000335016.5 + 11 1622_1630 c.1456_1464delCAGCACCAC c.(1456-1464)del p.QHH486del BMP2K_ENST00000502871.1_In_Frame_Del_p.QHH486del NM_198892.1 NP_942595.1 Q9NSY1 BMP2K_HUMAN BMP2 inducible kinase 486 Gln/His-rich. Q -> H (in dbSNP:rs2114202). Missing (in Ref. 2; CAB70863). nucleus ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 13 gcagcagcagcagcaccaccaccaccacc 0.488 9 301 --- --- --- --- PRDM8 56978 broad.mit.edu 37 4 81123250 81123252 + In_Frame_Del DEL CAG CAG - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr4:81123250_81123252delCAG ENST00000339711.4 + 10 1865_1867 c.634_636delCAG c.(634-636)del p.Q217del PRDM8_ENST00000415738.2_In_Frame_Del_p.Q217del|PRDM8_ENST00000504452.1_In_Frame_Del_p.Q217del NM_020226.3 NP_064611.3 Q9NQV8 PRDM8_HUMAN PR domain containing 8 217 Gly-rich.|Poly-Gln. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2) 10 tggcaaagaccagcagcagcagc 0.655 OREG0016246 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 378 --- --- --- --- PKD2 5311 broad.mit.edu 37 4 88986559 88986559 + Frame_Shift_Del DEL A A - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr4:88986559delA ENST00000237596.2 + 11 2218 c.2152delA c.(2152-2154)aafs p.K719fs PKD2_ENST00000511337.1_3'UTR|PKD2_ENST00000508588.1_Frame_Shift_Del_p.K137fs|PKD2_ENST00000502363.1_Frame_Shift_Del_p.K137fs NM_000297.3 NP_000288.1 Q13563 PKD2_HUMAN polycystic kidney disease 2 (autosomal dominant) 719 EF-hand domain. basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1) 36 Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221) OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237) ACTAAAACTGAAAAAAAATAC 0.383 7 905 --- --- --- --- NPNT 255743 broad.mit.edu 37 4 106863682 106863684 + In_Frame_Del DEL CCA CCA - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr4:106863682_106863684delCCA ENST00000379987.2 + 8 1198_1200 c.982_984delCCA c.(982-984)del p.P333del NPNT_ENST00000305572.8_In_Frame_Del_p.P333del|NPNT_ENST00000514622.1_In_Frame_Del_p.P333del|NPNT_ENST00000427316.2_In_Frame_Del_p.P363del|NPNT_ENST00000453617.2_In_Frame_Del_p.P350del|NPNT_ENST00000506666.1_In_Frame_Del_p.P363del NM_001033047.2 NP_001028219.1 Q6UXI9 NPNT_HUMAN nephronectin 333 Pro-rich. cell differentiation membrane calcium ion binding kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1) 21 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;5.41e-07) AATTCCTACTCCACCACCACCAC 0.522 8 687 --- --- --- --- SEC24D 9871 broad.mit.edu 37 4 119745869 119745870 + Frame_Shift_Ins INS - - G rs141446866 TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr4:119745869_119745870insG ENST00000379735.5 - 3 424_425 c.153_154insC c.(151-156)acccacfs p.H52fs SEC24D_ENST00000419654.2_5'UTR|SEC24D_ENST00000280551.6_Frame_Shift_Ins_p.H52fs NM_014822.2 NP_055637.2 O94855 SC24D_HUMAN SEC24 family member D 52 Pro-rich. COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 37 CCCCTAGTGGCGGTGGCCCCCA 0.540 9 1139 --- --- --- --- SEC24D 9871 broad.mit.edu 37 4 119745872 119745873 + Frame_Shift_Ins INS - - G TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr4:119745872_119745873insG ENST00000379735.5 - 3 421_422 c.150_151insC c.(148-153)gcccgcfs p.R51fs SEC24D_ENST00000419654.2_5'UTR|SEC24D_ENST00000280551.6_Frame_Shift_Ins_p.R51fs NM_014822.2 NP_055637.2 O94855 SC24D_HUMAN SEC24 family member D 51 Pro-rich. COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 37 CTAGTGGCGGTGGCCCCCAAAG 0.540 7 998 --- --- --- --- MAML3 55534 broad.mit.edu 37 4 140810639 140810641 + In_Frame_Del DEL GCT GCT - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr4:140810639_140810641delGCT ENST00000509479.2 - 2 2805_2807 c.1949_1951delAGC c.(1948-1953)ccg>c p.QP650del MAML3_ENST00000398940.1_In_Frame_Del_p.QP178del|MAML3_ENST00000327122.5_In_Frame_Del_p.QP494del NM_018717.4 NP_061187.2 Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 646 Gln-rich. Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) GGAGGTGGCGgctgctgctgctg 0.586 9 375 --- --- --- --- OTUD4 54726 broad.mit.edu 37 4 146077123 146077125 + In_Frame_Del DEL CAG CAG - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr4:146077123_146077125delCAG ENST00000454497.2 - 8 595_597 c.458_460delCTG c.(457-462)gat>g p.AD153del OTUD4_ENST00000447906.2_In_Frame_Del_p.AD218del|OTUD4_ENST00000455611.2_5'UTR NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 218 OTU. protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) CCATTCACATCAGCAGCAGCAGC 0.340 14 488 --- --- --- --- DDX60 55601 broad.mit.edu 37 4 169182016 169182016 + Splice_Site DEL A A - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr4:169182016delA ENST00000393743.3 - 25 3689 c.3398_splice c.e25+1 p.L1133_splice DDX60_ENST00000505393.1_5'UTR NM_017631.5 NP_060101.3 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 1133 ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4) 63 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) AATAACTTACAAAAAAAATAG 0.383 9 491 --- --- --- --- HMGB2 3148 broad.mit.edu 37 4 174253277 174253279 + In_Frame_Del DEL TCC TCC - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr4:174253277_174253279delTCC ENST00000296503.5 - 5 1455_1457 c.582_584delGGA c.(580-585)gaa>ga p.EE196del HMGB2_ENST00000438704.2_In_Frame_Del_p.EE196del|HMGB2_ENST00000446922.2_In_Frame_Del_p.EE196del P26583 HMGB2_HUMAN high mobility group box 2 196 Asp/Glu-rich (acidic). base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding p.E194E(1) endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3) 14 Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122) all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249) atcttcttcttcctcctcctcct 0.468 8 547 --- --- --- --- SORBS2 8470 broad.mit.edu 37 4 186544439 186544439 + Frame_Shift_Del DEL T T - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr4:186544439delT ENST00000431808.1 - 14 2695 c.2132delA c.(2131-2133)atfs p.N711fs SORBS2_ENST00000355634.5_Frame_Shift_Del_p.N811fs|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000284776.7_Frame_Shift_Del_p.N711fs|SORBS2_ENST00000418609.1_Frame_Shift_Del_p.N615fs|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000437304.2_Intron O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 711 actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 53 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) AGGAGCCGAATTTTTTTTCCT 0.448 7 1377 --- --- --- --- BRD9 65980 broad.mit.edu 37 5 889777 889777 + Frame_Shift_Del DEL A A - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr5:889777delA ENST00000323510.4 - 1 37 c.38delT c.(37-39)tcfs p.F13fs BRD9_ENST00000483173.1_Intron|BRD9_ENST00000435709.2_Frame_Shift_Del_p.F13fs|BRD9_ENST00000388890.4_Frame_Shift_Del_p.F13fs|BRD9_ENST00000467963.1_Intron Q9H8M2 BRD9_HUMAN bromodomain containing 9 0 nucleic acid binding breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3) 29 Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185) CAATTTAAGGAAAAAAAAATT 0.448 10 516 --- --- --- --- DNAH5 1767 broad.mit.edu 37 5 13919383 13919383 + Frame_Shift_Del DEL T T - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr5:13919383delT ENST00000265104.4 - 7 981 c.877delA c.(877-879)gafs p.R293fs NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 293 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TTGGAGAGTCTTTTTTTCCAG 0.517 Kartagener syndrome 8 1556 --- --- --- --- CDH10 1008 broad.mit.edu 37 5 24511437 24511437 + Splice_Site DEL T T - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr5:24511437delT ENST00000264463.4 - 6 1508 c.1002_splice c.e6+1 p.K334_splice NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 334 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) GCTGTGCACCTTTTTCACAGT 0.403 HNSCC(23;0.051) 7 907 --- --- --- --- CTD-2215E18.1 0 broad.mit.edu 37 5 96518818 96518819 + Frame_Shift_Ins INS - - G TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr5:96518818_96518819insG ENST00000509481.1 + 4 680_681 c.139_140insG c.(139-141)ggtfs p.G47fs RIOK2_ENST00000508447.1_Intron|RIOK2_ENST00000283109.3_Intron urinary_tract(1) 1 ACAGGAACGGCGGGTTTCTTAC 0.569 8 1746 --- --- --- --- AP3S1 1176 broad.mit.edu 37 5 115202418 115202421 + Frame_Shift_Del DEL AAGA AAGA - rs80118146 TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr5:115202418_115202421delAAGA ENST00000316788.7 + 2 678_681 c.121_124delAAGA c.(121-126)gafs p.KR41fs NM_001284.2 NP_001275.1 Q92572 AP3S1_HUMAN adaptor-related protein complex 3, sigma 1 subunit 41 insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle protein binding|protein transporter activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1) 12 all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245) OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05) TTTGGTATCTAAGAGAGATGAAAA 0.304 13 363 --- --- --- --- DMXL1 1657 broad.mit.edu 37 5 118525523 118525524 + Frame_Shift_Ins INS - - G rs17144964 byFrequency TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr5:118525523_118525524insG ENST00000311085.8 + 29 7336_7337 c.7256_7257insG c.(7255-7257)ggtfs p.G2419fs DMXL1_ENST00000539542.1_Frame_Shift_Ins_p.G2419fs NM_005509.4 NP_005500.4 Q9Y485 DMXL1_HUMAN Dmx-like 1 2419 breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1) 86 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) GAGTCACTGGCGGTTAAAGAAA 0.421 8 879 --- --- --- --- SRFBP1 153443 broad.mit.edu 37 5 121356129 121356130 + Frame_Shift_Ins INS - - A TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr5:121356129_121356130insA ENST00000339397.4 + 6 771_772 c.699_700insA c.(697-702)acaaaafs p.TK233fs NM_152546.2 NP_689759.2 Q8NEF9 SRFB1_HUMAN serum response factor binding protein 1 233 regulation of transcription, DNA-dependent|transcription, DNA-dependent perinuclear region of cytoplasm central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1) 15 all_cancers(142;0.0124)|Prostate(80;0.0322) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517) TAAGTCAAACCAAAAAAAACAA 0.401 8 744 --- --- --- --- FNIP1 96459 broad.mit.edu 37 5 131007940 131007941 + Frame_Shift_Ins INS - - T TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr5:131007940_131007941insT ENST00000307968.7 - 13 2111_2112 c.2112_2113insA c.(2110-2115)aactccfs p.NS704fs FNIP1_ENST00000510461.1_Frame_Shift_Ins_p.NS732fs|FNIP1_ENST00000307954.8_Frame_Shift_Ins_p.NS687fs|FNIP1_ENST00000514667.1_Intron NM_001008738.2 NP_001008738.2 folliculin interacting protein 1 NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0665) TTATCTGGAGGTTTTTTTTCCA 0.441 7 936 --- --- --- --- ANKHD1 54882 broad.mit.edu 37 5 139905676 139905676 + Frame_Shift_Del DEL A A - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr5:139905676delA ENST00000297183.6 + 26 4712 c.4588delA c.(4588-4590)aafs p.K1531fs ANKHD1-EIF4EBP3_ENST00000532219.1_Frame_Shift_Del_p.K1531fs|ANKHD1_ENST00000360839.2_Frame_Shift_Del_p.K1531fs NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTGTTTGGGAAAAAAAGGGC 0.423 13 1326 --- --- --- --- LARS 51520 broad.mit.edu 37 5 145543912 145543913 + Frame_Shift_Ins INS - - G TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr5:145543912_145543913insG ENST00000394434.2 - 6 720_721 c.554_555insC c.(553-555)cccfs p.P185fs LARS_ENST00000510191.1_Frame_Shift_Ins_p.P131fs|LARS_ENST00000274562.9_Frame_Shift_Ins_p.P158fs|LARS_ENST00000511505.1_5'UTR|LARS_ENST00000545646.1_Frame_Shift_Ins_p.P139fs NM_020117.9 NP_064502.9 Q9P2J5 SYLC_HUMAN leucyl-tRNA synthetase 185 leucyl-tRNA aminoacylation cytosol ATP binding|leucine-tRNA ligase activity|protein binding breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8) 34 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Leucine(DB00149) TAGCCAGTGGCGGGAAATAATC 0.366 8 934 --- --- --- --- AACSP1 0 broad.mit.edu 37 5 178213643 178213643 + RNA DEL T T - rs111517974 TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr5:178213643delT ENST00000503486.2 - 0 647 NR_024035.1 CCGGTCTGCCTTCCAGAGGCG 0.597 17 16 --- --- --- --- CTC-338M12.9 0 broad.mit.edu 37 5 180708859 180708860 + RNA INS - - T TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr5:180708859_180708860insT ENST00000412295.2 + 0 238 GTAGGAGGGGGGCTGGAGCAGT 0.693 8 154 --- --- --- --- RIOK1 83732 broad.mit.edu 37 6 7393450 7393452 + In_Frame_Del DEL GAC GAC - rs2274212 byFrequency TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr6:7393450_7393452delGAC ENST00000379834.2 + 2 697_699 c.190_192delGAC c.(190-192)del p.D69del NM_031480.2|NM_153005.1 NP_113668.2|NP_694550.1 Q9BRS2 RIOK1_HUMAN RIO kinase 1 69 ATP binding|protein serine/threonine kinase activity p.D57G(1) cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 19 Ovarian(93;0.0418) ggagggttatgacgatgatgatg 0.433 17 499 --- --- --- --- SLC17A2 10246 broad.mit.edu 37 6 25921520 25921520 + Frame_Shift_Del DEL T T - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr6:25921520delT ENST00000377850.3 - 4 885 c.361delA c.(361-363)tgfs p.M121fs SLC17A2_ENST00000360488.3_Frame_Shift_Del_p.M121fs|SLC17A2_ENST00000265425.3_Frame_Shift_Del_p.M121fs O00624 NPT3_HUMAN solute carrier family 17, member 2 121 phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity p.M121fs*7(1) endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 31 GCACCAAGCATTTTTTTTGCT 0.453 10 574 --- --- --- --- BTN2A2 10385 broad.mit.edu 37 6 26384091 26384093 + In_Frame_Del DEL CCT CCT - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr6:26384091_26384093delCCT ENST00000356709.4 + 2 153_155 c.42_44delCCT c.(40-45)tcc>tc p.SL14del BTN2A2_ENST00000482536.1_In_Frame_Del_p.SL14del|BTN2A2_ENST00000416795.2_In_Frame_Del_p.SL14del|BTN2A2_ENST00000469230.1_In_Frame_Del_p.SL14del|BTN2A2_ENST00000432533.2_In_Frame_Del_p.SL14del|BTN2A2_ENST00000352867.2_In_Frame_Del_p.SL14del NM_001197240.1|NM_006995.4 NP_001184169.1|NP_008926.2 Q8WVV5 BT2A2_HUMAN butyrophilin, subfamily 2, member A2 14 negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion integral to membrane breast(2)|endometrium(3)|large_intestine(5)|lung(13) 23 TGCCAGCCTCcctcctcctcctc 0.581 10 701 --- --- --- --- HLA-V 0 broad.mit.edu 37 6 29760353 29760373 + RNA DEL GCGGGCGCCGTGGATGGAGCA GCGGGCGCCGTGGATGGAGCA - rs74661005 by1000genomes TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA ENST00000457107.1 + 0 223_243 GGATGGAGCCGCGGGCGCCGTGGATGGAGCAGGAGGGGCCG 0.674 23 48 --- --- --- --- TRIM26 7726 broad.mit.edu 37 6 30157254 30157254 + Frame_Shift_Del DEL T T - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr6:30157254delT ENST00000454678.2 - 8 1281 c.845delA c.(844-846)agfs p.K282fs TRIM26_ENST00000453195.1_Frame_Shift_Del_p.K282fs|TRIM26_ENST00000437089.1_Frame_Shift_Del_p.K282fs NM_003449.4 NP_003440.1 Q12899 TRI26_HUMAN tripartite motif containing 26 282 DNA binding|zinc ion binding p.K282fs*16(1) lung(1)|ovary(2) 3 TTCTCCGGTCTTTTTTTTAAC 0.483 9 660 --- --- --- --- PPP1R10 5514 broad.mit.edu 37 6 30570264 30570266 + In_Frame_Del DEL GGA GGA - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr6:30570264_30570266delGGA ENST00000376511.2 - 19 2712_2714 c.2160_2162delTCC c.(2158-2163)cca>cc p.PP720del NM_002714.3 NP_002705.2 Q96QC0 PP1RA_HUMAN protein phosphatase 1, regulatory subunit 10 720 Gly-rich. protein import into nucleus|transcription, DNA-dependent PTW/PP1 phosphatase complex DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1) 25 GCCTCGGAATggaggaggaggag 0.670 10 371 --- --- --- --- PPP1R10 5514 broad.mit.edu 37 6 30572795 30572795 + Frame_Shift_Del DEL T T - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr6:30572795delT ENST00000376511.2 - 11 1482 c.930delA c.(928-930)aafs p.K310fs NM_002714.3 NP_002705.2 Q96QC0 PP1RA_HUMAN protein phosphatase 1, regulatory subunit 10 310 Interaction with TOX4 (By similarity).|Poly-Lys. protein import into nucleus|transcription, DNA-dependent PTW/PP1 phosphatase complex DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1) 25 GTGACAGTACTTTTTTTTTCT 0.448 8 324 --- --- --- --- STK19 8859 broad.mit.edu 37 6 31939829 31939830 + Frame_Shift_Ins INS - - A TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr6:31939829_31939830insA ENST00000375331.2 + 1 222_223 c.56_57insA c.(55-57)gaafs p.E19fs DOM3Z_ENST00000478221.1_5'UTR|DOM3Z_ENST00000337523.5_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.E19fs|DOM3Z_ENST00000375349.3_5'UTR NM_004197.1 NP_004188.1 P49842 STK19_HUMAN serine/threonine kinase 19 19 nucleus ATP binding|protein binding|protein serine/threonine kinase activity skin(5)|upper_aerodigestive_tract(2) 7 CAGTGGCGGGCAAACCCCTCCC 0.634 16 891 --- --- --- --- FKBPL 63943 broad.mit.edu 37 6 32097086 32097086 + Frame_Shift_Del DEL C C - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr6:32097086delC ENST00000375156.3 - 2 742 c.472delG c.(472-474)agfs p.E158fs NM_022110.3 NP_071393.2 Q9UIM3 FKBPL_HUMAN FK506 binding protein like 158 response to radiation membrane|nucleus FK506 binding|peptidyl-prolyl cis-trans isomerase activity TCTATGAGCTCCCCCCAAGTT 0.587 8 2380 --- --- --- --- C6orf89 221477 broad.mit.edu 37 6 36867371 36867371 + Frame_Shift_Del DEL C C - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr6:36867371delC ENST00000480824.2 + 3 445 c.151delC c.(151-153)ccfs p.P53fs C6orf89_ENST00000359359.2_5'UTR|C6orf89_ENST00000355190.3_Frame_Shift_Del_p.P60fs|C6orf89_ENST00000510325.2_5'UTR|C6orf89_ENST00000373685.1_Frame_Shift_Del_p.P53fs Q6UWU4 CF089_HUMAN chromosome 6 open reading frame 89 53 integral to membrane breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2) 15 ACCTCAGAGACCCCCCCCGCA 0.428 7 520 --- --- --- --- SRF 6722 broad.mit.edu 37 6 43144290 43144295 + In_Frame_Del DEL GGCAGT GGCAGT - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr6:43144290_43144295delGGCAGT ENST00000265354.4 + 4 1405_1410 c.1047_1052delGGCAGT c.(1045-1053)ggg>gg p.GAV349del SRF_ENST00000457278.2_In_Frame_Del_p.GAV145del NM_003131.2 NP_003122.1 P11831 SRF_HUMAN serum response factor (c-fos serum response element-binding transcription factor) 349 angiogenesis involved in wound healing|cell migration involved in sprouting angiogenesis|cellular senescence|heart looping|muscle cell homeostasis|neuron development|positive regulation of cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of smooth muscle cell differentiation|response to cytokine stimulus|response to hormone stimulus|response to toxin|transcription from RNA polymerase II promoter|trophectodermal cell differentiation endoplasmic reticulum protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|ovary(1) 12 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423) TTGCAGGTGGGGCAGTGGCCCAGCAG 0.617 29 644 --- --- --- --- RUNX2 860 broad.mit.edu 37 6 45296445 45296446 + Frame_Shift_Ins INS - - A TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr6:45296445_45296446insA ENST00000352853.5 + 2 186_187 c.186_187insA c.(184-189)ctaaaafs p.LK62fs RUNX2_ENST00000541979.1_Frame_Shift_Ins_p.LK62fs|RUNX2_ENST00000483243.1_3'UTR|RUNX2_ENST00000371438.1_5'UTR|SUPT3H_ENST00000459689.1_Intron|SUPT3H_ENST00000371459.1_Intron|SUPT3H_ENST00000371460.1_Intron|RUNX2_ENST00000465038.2_5'UTR|SUPT3H_ENST00000306867.5_Intron Q13950 RUNX2_HUMAN runt-related transcription factor 2 0 Poly-Gln. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 AGTTCTATCTGAAAAAAAAAGG 0.386 8 482 --- --- --- --- TDRD6 221400 broad.mit.edu 37 6 46660414 46660415 + Frame_Shift_Ins INS - - A rs145334816 TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr6:46660414_46660415insA ENST00000544460.1 + 1 4803_4804 c.4549_4550insA c.(4549-4551)aaafs p.K1517fs TDRD6_ENST00000316081.6_Frame_Shift_Ins_p.K1517fs NM_001168359.1 NP_001161831.1 O60522 TDRD6_HUMAN tudor domain containing 6 1517 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) GTATAATCCAGAAAAAAAAATG 0.351 9 433 --- --- --- --- TRAM2 9697 broad.mit.edu 37 6 52370505 52370506 + Frame_Shift_Ins INS - - G TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr6:52370505_52370506insG ENST00000182527.3 - 9 765_766 c.766_767insC c.(766-768)cctfs p.P256fs EFHC1_ENST00000433625.2_Intron NM_012288.3 NP_036420.1 Q15035 TRAM2_HUMAN translocation associated membrane protein 2 256 TLC. collagen biosynthetic process|protein transport|transmembrane transport integral to membrane protein binding p.R256L(1) endometrium(3)|large_intestine(1)|lung(7)|prostate(1)|skin(1) 13 Lung NSC(77;0.109) GATGAAGAGGCGGGTAACCCCA 0.535 8 549 --- --- --- --- PHF3 23469 broad.mit.edu 37 6 64394097 64394097 + Frame_Shift_Del DEL A A - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr6:64394097delA ENST00000262043.3 + 4 814 c.474delA c.(472-474)acfs p.T158fs PHF3_ENST00000393387.1_Frame_Shift_Del_p.T158fs|PHF3_ENST00000509330.1_Frame_Shift_Del_p.T158fs Q92576 PHF3_HUMAN PHD finger protein 3 158 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6) 75 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) TAAGTAACACAAAAAAAGCAT 0.383 7 1539 --- --- --- --- PHIP 55023 broad.mit.edu 37 6 79655961 79655961 + Frame_Shift_Del DEL T T - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr6:79655961delT ENST00000275034.4 - 38 4554 c.4387delA c.(4387-4389)ggfs p.R1463fs PHIP_ENST00000479165.1_5'UTR NM_017934.5 NP_060404.3 Q8WWQ0 PHIP_HUMAN pleckstrin homology domain interacting protein 1463 insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis nucleus insulin receptor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 68 all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219) BRCA - Breast invasive adenocarcinoma(397;0.231) TTTAAGATCCTTTTTTTCCTT 0.358 7 831 --- --- --- --- C6orf165 154313 broad.mit.edu 37 6 88144700 88144700 + Frame_Shift_Del DEL A A - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr6:88144700delA ENST00000507897.1 + 11 1506 c.1423delA c.(1423-1425)aafs p.K476fs C6ORF165_ENST00000369562.4_Frame_Shift_Del_p.K476fs Q8IYR0 CF165_HUMAN chromosome 6 open reading frame 165 476 NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0419) AGAAAAGGCCAAAAAAAATAC 0.269 9 380 --- --- --- --- GABRR1 2569 broad.mit.edu 37 6 89891719 89891721 + In_Frame_Del DEL AAG AAG - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr6:89891719_89891721delAAG ENST00000435811.1 - 7 1255_1257 c.801_803delCTT c.(799-804)ttg>tt p.FL267del GABRR1_ENST00000369451.3_In_Frame_Del_p.FL197del|GABRR1_ENST00000454853.2_In_Frame_Del_p.FL284del NM_001256703.1 NP_001243632.1 P24046 GBRR1_HUMAN gamma-aminobutyric acid (GABA) A receptor, rho 1 284 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 35 all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114) BRCA - Breast invasive adenocarcinoma(108;0.00917) Picrotoxin(DB00466) AGTTTGGAGCAAGAAGAAGAAGA 0.522 15 712 --- --- --- --- SEC63 11231 broad.mit.edu 37 6 108214774 108214774 + Frame_Shift_Del DEL T T - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr6:108214774delT ENST00000369002.4 - 16 1765 c.1586delA c.(1585-1587)agfs p.K530fs NM_007214.4 NP_009145.1 Q9UGP8 SEC63_HUMAN SEC63 homolog (S. cerevisiae) 530 SEC63 1. protein folding|protein targeting to membrane endoplasmic reticulum membrane|integral to membrane heat shock protein binding|receptor activity|unfolded protein binding p.K529fs*4(1) endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294) BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054) TAAAGGTTTCTTTTTTTTTGA 0.368 14 835 --- --- --- --- ZBTB24 9841 broad.mit.edu 37 6 109802729 109802729 + Frame_Shift_Del DEL T T - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr6:109802729delT ENST00000230122.3 - 2 668 c.501delA c.(499-501)aafs p.K167fs NM_001164313.1|NM_014797.2 NP_001157785.1|NP_055612.2 O43167 ZBT24_HUMAN zinc finger and BTB domain containing 24 167 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 22 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059) ATGTATTGACTTTTTTTGGTC 0.418 7 1289 --- --- --- --- TRAF3IP2 10758 broad.mit.edu 37 6 111880692 111880693 + Frame_Shift_Ins INS - - T TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr6:111880692_111880693insT ENST00000368761.5 - 9 2091_2092 c.1613_1614insA c.(1612-1614)aatfs p.N538fs TRAF3IP2-AS1_ENST00000449449.2_RNA|TRAF3IP2-AS1_ENST00000438298.2_RNA|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2-AS1_ENST00000456352.2_RNA|TRAF3IP2_ENST00000340026.6_Frame_Shift_Ins_p.N547fs|TRAF3IP2_ENST00000368731.2_5'UTR|TRAF3IP2_ENST00000368735.1_Frame_Shift_Ins_p.N82fs|TRAF3IP2-AS1_ENST00000440395.1_RNA|TRAF3IP2_ENST00000359831.4_Frame_Shift_Ins_p.N537fs|TRAF3IP2-AS1_ENST00000442928.2_RNA|TRAF3IP2_ENST00000392556.4_Frame_Shift_Ins_p.N126fs NM_001164281.2|NM_147686.3 NP_001157753.1|NP_679211.2 O43734 CIKS_HUMAN TRAF3 interacting protein 2 547 SEFIR. intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade intracellular central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1) 18 all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732) GCAGCAGGATGTTTTTTTTATT 0.550 9 955 --- --- --- --- KIAA0408 9729 broad.mit.edu 37 6 127767596 127767596 + Frame_Shift_Del DEL C C - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr6:127767596delC ENST00000483725.3 - 5 2204 c.1868delG c.(1867-1869)gafs p.G623fs SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR NM_014702.4 NP_055517.3 Q6ZU52 K0408_HUMAN KIAA0408 623 protein binding endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1) 28 GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13) CACTTCCTGTCCCCCCCACAC 0.398 9 1672 --- --- --- --- OLIG3 167826 broad.mit.edu 37 6 137815210 137815212 + In_Frame_Del DEL TGG TGG - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr6:137815210_137815212delTGG ENST00000367734.2 - 1 319_321 c.96_98delCCA c.(94-99)cag>ca p.HQ32del NM_175747.2 NP_786923.1 Q7RTU3 OLIG3_HUMAN oligodendrocyte transcription factor 3 32 Poly-His. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.Q33K(1) endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 11 Breast(32;0.165)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447) ACGGCTCTCCtggtggtggtggt 0.596 19 702 --- --- --- --- GRM1 2911 broad.mit.edu 37 6 146755219 146755221 + In_Frame_Del DEL GAG GAG - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr6:146755219_146755221delGAG ENST00000361719.2 + 9 3342_3344 c.2872_2874delGAG c.(2872-2874)del p.E961del GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000282753.1_In_Frame_Del_p.E961del|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000392299.2_3'UTR NM_001278064.1 NP_001264993.1 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 961 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) TTACAACGTAGAGGAGGAGGAGG 0.586 7 920 --- --- --- --- MTHFD1L 25902 broad.mit.edu 37 6 151358163 151358164 + Frame_Shift_Ins INS - - A TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr6:151358163_151358164insA ENST00000367321.3 + 26 3031_3032 c.2757_2758insA c.(2755-2760)gaaaaafs p.EK919fs NM_001242767.1|NM_001242768.1|NM_015440.4 NP_001229696.1|NP_001229697.1|NP_056255.2 Q6UB35 C1TM_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like 919 Formyltetrahydrofolate synthetase. folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity p.L914fs*14(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2) 29 Ovarian(120;0.128) OV - Ovarian serous cystadenocarcinoma(155;8.7e-12) ACCAACCTGACAAAAAAGGTGT 0.480 10 562 --- --- --- --- NOX3 50508 broad.mit.edu 37 6 155743925 155743926 + Frame_Shift_Del DEL CA CA - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr6:155743925_155743926delCA ENST00000159060.2 - 10 1312_1313 c.1210_1211delTG c.(1210-1212)cfs p.C404fs NM_015718.2 NP_056533.1 Q9HBY0 NOX3_HUMAN NADPH oxidase 3 404 electron carrier activity|flavin adenine dinucleotide binding|iron ion binding cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1) 45 Breast(66;0.0183) OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815) CGCGGCAACGCACACACACACT 0.530 11 1204 --- --- --- --- SYNJ2 8871 broad.mit.edu 37 6 158508009 158508009 + Frame_Shift_Del DEL C C - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr6:158508009delC ENST00000355585.4 + 23 3406 c.3331delC c.(3331-3333)ccfs p.P1114fs SYNJ2_ENST00000367122.2_Intron|SYNJ2_ENST00000367112.1_Frame_Shift_Del_p.P199fs|SYNJ2_ENST00000367121.3_Frame_Shift_Del_p.P1114fs NM_001178088.1|NM_003898.3 NP_001171559.1|NP_003889.1 O15056 SYNJ2_HUMAN synaptojanin 2 1114 Pro-rich. nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding p.P1113fs*5(1) biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) CCCGCAGAGACCCCCCCCTCC 0.637 7 371 --- --- --- --- IGF2R 3482 broad.mit.edu 37 6 160485487 160485488 + Frame_Shift_Ins INS - - G TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr6:160485487_160485488insG ENST00000356956.1 + 28 4089_4090 c.3941_3942insG c.(3940-3942)aggfs p.R1314fs NM_000876.2 NP_000867.2 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor 1314 receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) ATGAACTTCACGGGGGGGGACA 0.505 16 1111 --- --- --- --- MAP3K4 4216 broad.mit.edu 37 6 161469776 161469776 + Frame_Shift_Del DEL A A - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr6:161469776delA ENST00000392142.4 + 3 620 c.472delA c.(472-474)aafs p.K159fs MAP3K4_ENST00000366920.2_Frame_Shift_Del_p.K159fs|MAP3K4_ENST00000446500.1_3'UTR|MAP3K4_ENST00000366919.2_Frame_Shift_Del_p.K159fs|MAP3K4_ENST00000348824.7_Frame_Shift_Del_p.K159fs NM_005922.2 NP_005913.2 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 159 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 p.N160fs*8(2) 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) GCGTGATCGTAAAAAAAATGT 0.403 8 882 --- --- --- --- MLLT4 4301 broad.mit.edu 37 6 168317900 168317900 + Frame_Shift_Del DEL T T - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr6:168317900delT ENST00000366806.2 + 19 2818 c.2676delT c.(2674-2676)ccfs p.P892fs MLLT4_ENST00000392112.1_Frame_Shift_Del_p.P876fs|MLLT4_ENST00000351017.4_Frame_Shift_Del_p.P899fs|MLLT4_ENST00000447894.2_Frame_Shift_Del_p.P892fs|MLLT4_ENST00000344191.4_Frame_Shift_Del_p.P892fs|MLLT4_ENST00000392108.3_Frame_Shift_Del_p.P892fs|MLLT4_ENST00000400822.3_Frame_Shift_Del_p.P891fs P55196 AFAD_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 892 Dilute. adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction adherens junction|cell-cell junction|cytosol|nucleus protein C-terminus binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(66;1.07e-05)|Ovarian(120;0.024) Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117) CTGATGAGCCTTTTATCCCAA 0.398 T MLL AL 9 988 --- --- --- --- TBP 6908 broad.mit.edu 37 6 170871047 170871049 + In_Frame_Del DEL CAG CAG - rs10592951 TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr6:170871047_170871049delCAG ENST00000392092.2 + 3 502_504 c.223_225delCAG c.(223-225)del p.Q95del TBP_ENST00000230354.6_In_Frame_Del_p.Q95del|TBP_ENST00000540980.1_In_Frame_Del_p.Q75del NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 95 Poly-Gln. Missing. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding p.Q75Q(2) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) gcaacagcaacagcagcagcagc 0.571 9 384 --- --- --- --- TMEM184A 202915 broad.mit.edu 37 7 1586662 1586663 + In_Frame_Ins INS - - GCC rs3837151 by1000genomes TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr7:1586662_1586663insGCC ENST00000297477.5 - 9 1483_1484 c.1167_1168insGGC c.(1165-1170)ccgcgg>ccGGCgcgg p.389_390PR>PAR NM_001097620.1 NP_001091089.1 Q6ZMB5 T184A_HUMAN transmembrane protein 184A 389 integral to membrane endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 12 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15) GAGCCGCCGCTGGGGTGGGTGC 0.703 8 238 --- --- --- --- PMS2CL 0 broad.mit.edu 37 7 6771664 6771664 + RNA DEL T T - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr7:6771664delT ENST00000486256.1 + 0 619 NR_002217.1 GGATTCCTACttttttttttc 0.413 8 365 --- --- --- --- GLCCI1 113263 broad.mit.edu 37 7 8126097 8126099 + In_Frame_Del DEL CAG CAG - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr7:8126097_8126099delCAG ENST00000223145.5 + 8 2130_2132 c.1573_1575delCAG c.(1573-1575)del p.Q528del NM_138426.3 NP_612435.1 Q86VQ1 GLCI1_HUMAN glucocorticoid induced transcript 1 528 Poly-Gln. endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 25 Ovarian(82;0.0608) UCEC - Uterine corpus endometrioid carcinoma (126;0.206) GCAGCCATCCCAGCAGCAGCAGC 0.562 10 1896 --- --- --- --- ICA1 3382 broad.mit.edu 37 7 8198250 8198251 + Frame_Shift_Ins INS - - T TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr7:8198250_8198251insT ENST00000402384.3 - 7 877_878 c.611_612insA c.(610-612)attfs p.I204fs ICA1_ENST00000396675.3_Frame_Shift_Ins_p.I204fs|ICA1_ENST00000422063.2_Frame_Shift_Ins_p.I204fs|ICA1_ENST00000401396.1_Frame_Shift_Ins_p.I192fs|ICA1_ENST00000265577.7_Frame_Shift_Ins_p.I203fs|ICA1_ENST00000407906.1_Frame_Shift_Ins_p.I204fs|ICA1_ENST00000406470.2_Frame_Shift_Ins_p.I204fs Q05084 ICA69_HUMAN islet cell autoantigen 1, 69kDa 204 AH. neurotransmitter transport cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane p.N204fs*5(3) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1) 23 Ovarian(82;0.0612) UCEC - Uterine corpus endometrioid carcinoma (126;0.246) ATTTGTCAAAGTTTTTTTTTGC 0.376 8 337 --- --- --- --- POU6F2 11281 broad.mit.edu 37 7 39379288 39379290 + In_Frame_Del DEL CAG CAG - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr7:39379288_39379290delCAG ENST00000518318.2 + 5 601_603 c.559_561delCAG c.(559-561)del p.Q196del POU6F2_ENST00000403058.1_In_Frame_Del_p.Q196del|POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000559001.1_In_Frame_Del_p.Q188del P78424 PO6F2_HUMAN POU class 6 homeobox 2 196 Gln-rich. Q -> QQ (in Ref. 1; AAB49727/AAB49728). central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 gctccagctccagcagcagcagc 0.616 11 185 --- --- --- --- INTS4L2 0 broad.mit.edu 37 7 65150824 65150825 + RNA INS - - G TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr7:65150824_65150825insG ENST00000430126.2 + 0 757 TCACCCCCCCCCCCGTTAAAAT 0.470 11 42 --- --- --- --- STAG3L4 0 broad.mit.edu 37 7 66772495 66772495 + RNA DEL T T - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr7:66772495delT ENST00000416602.2 + 0 362 NR_040586.1 Q8TBR4 STG34_HUMAN endometrium(2)|lung(5) 7 Lung NSC(55;0.0839)|all_lung(88;0.181) GCTTGATTCCTTTTTTTTTTT 0.423 9 22 --- --- --- --- GTF2IRD2P1 0 broad.mit.edu 37 7 72667747 72667747 + RNA DEL T T - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr7:72667747delT ENST00000425256.1 - 0 633 NR_002164.1 tttttttttcttttttttttt 0.388 10 112 --- --- --- --- GTF2IRD2P1 0 broad.mit.edu 37 7 72685489 72685490 + RNA DEL AA AA - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr7:72685489_72685490delAA ENST00000425256.1 - 0 120 NR_002164.1 actccatctcaaaaaaaaaaaa 0.446 13 134 --- --- --- --- DTX2 113878 broad.mit.edu 37 7 76112249 76112249 + Frame_Shift_Del DEL A A - rs147779783 byFrequency TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr7:76112249delA ENST00000324432.5 + 5 1203 c.693delA c.(691-693)ccfs p.P231fs DTX2_ENST00000413936.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000446600.1_Frame_Shift_Del_p.P140fs|DTX2_ENST00000430490.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000446820.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000307569.8_Frame_Shift_Del_p.P231fs NM_020892.2 NP_065943.2 Q86UW9 DTX2_HUMAN deltex homolog 2 (Drosophila) 231 Notch signaling pathway cytoplasm|nucleus protein binding|zinc ion binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2) 27 AGCACCCCCCACACAGGACCG 0.657 17 1706 --- --- --- --- GIGYF1 64599 broad.mit.edu 37 7 100280978 100280980 + In_Frame_Del DEL CTG CTG - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr7:100280978_100280980delCTG ENST00000275732.5 - 18 3349_3351 c.2140_2142delCAG c.(2140-2142)del p.Q714del NM_022574.4 NP_072096.2 O75420 PERQ1_HUMAN GRB10 interacting GYF protein 1 714 central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) TCTGCTCCTCCTGCTGCTGCTGG 0.650 9 1202 --- --- --- --- LAMB1 3912 broad.mit.edu 37 7 107572730 107572730 + Frame_Shift_Del DEL C C - rs57244800 byFrequency TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr7:107572730delC ENST00000393561.1 - 26 4537 c.4353delG c.(4351-4353)ggfs p.G1451fs LAMB1_ENST00000474380.1_5'UTR|LAMB1_ENST00000222399.6_Frame_Shift_Del_p.G1427fs P07942 LAMB1_HUMAN laminin, beta 1 1427 Domain I. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CACAGCCAGGCCCCCCACACT 0.587 7 962 --- --- --- --- FOXP2 93986 broad.mit.edu 37 7 114271580 114271582 + Splice_Site DEL CAG CAG - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr7:114271580_114271582delCAG ENST00000393500.3 + 12 1192 c.e12-1 FOXP2_ENST00000350908.4_Splice_Site|FOXP2_ENST00000408937.3_Splice_Site|FOXP2_ENST00000360232.4_Splice_Site|FOXP2_ENST00000390668.3_Splice_Site|FOXP2_ENST00000393494.2_Splice_Site|FOXP2_ENST00000393491.3_Splice_Site|FOXP2_ENST00000403559.4_Splice_Site|FOXP2_ENST00000393489.3_Splice_Site|FOXP2_ENST00000378237.3_Splice_Site|FOXP2_ENST00000393498.2_Intron O15409 FOXP2_HUMAN forkhead box P2 camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding p.?(3) breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 TTTCTGATACcagcagcagcagc 0.512 7 49 --- --- --- --- SSMEM1 136263 broad.mit.edu 37 7 129847761 129847761 + Frame_Shift_Del DEL T T - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr7:129847761delT ENST00000297819.3 + 1 62 c.11delT c.(10-12)ctfs p.L4fs NM_145268.3 NP_660311.1 serine-rich single-pass membrane protein 1 ATGGGAGACCTTTTTTCCTTA 0.413 8 723 --- --- --- --- CNOT4 4850 broad.mit.edu 37 7 135047688 135047688 + Frame_Shift_Del DEL G G - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr7:135047688delG ENST00000541284.1 - 12 2421 c.2091delC c.(2089-2091)ccfs p.P697fs CNOT4_ENST00000423368.2_Frame_Shift_Del_p.P626fs|CNOT4_ENST00000451834.1_Frame_Shift_Del_p.P694fs|CNOT4_ENST00000361528.4_Frame_Shift_Del_p.P623fs NM_001190849.1|NM_001190850.1 NP_001177778.1|NP_001177779.1 O95628 CNOT4_HUMAN CCR4-NOT transcription complex, subunit 4 366 nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1) 22 GGGTTTTGCTGGGGGGTCTGA 0.532 7 2529 --- --- --- --- OR9A4 130075 broad.mit.edu 37 7 141619203 141619203 + Frame_Shift_Del DEL T T - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr7:141619203delT ENST00000548136.1 + 1 587 c.528delT c.(526-528)aafs p.N176fs MGAM_ENST00000497554.1_Intron NM_001001656.1 NP_001001656.1 Q8NGU2 OR9A4_HUMAN olfactory receptor, family 9, subfamily A, member 4 176 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2) 22 Melanoma(164;0.0171) TGGTGAACAATTTTTTTTGTG 0.383 7 1071 --- --- --- --- TRBV6-8 0 broad.mit.edu 37 7 142124496 142124497 + RNA INS - - G rs72463875 TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr7:142124496_142124497insG ENST00000390376.2 - 0 49 AATCCACGCAAGGGCCCTGCCC 0.614 35 542 --- --- --- --- TRBV7-6 0 broad.mit.edu 37 7 142139683 142139684 + RNA INS - - A TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr7:142139683_142139684insA ENST00000390374.3 - 0 94 cctacacacaGAAAAAAAAATG 0.490 8 411 --- --- --- --- PRSS3P2 0 broad.mit.edu 37 7 142478881 142478882 + RNA INS - - AG TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr7:142478881_142478882insAG ENST00000603901.1 + 0 40 NR_001296.3 GAGCTGCTGGTGAGTTTCATGC 0.554 7 219 --- --- --- --- NOM1 64434 broad.mit.edu 37 7 156743209 156743211 + In_Frame_Del DEL GAG GAG - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr7:156743209_156743211delGAG ENST00000275820.3 + 1 793_795 c.778_780delGAG c.(778-780)del p.E264del NM_138400.1 NP_612409.1 Q5C9Z4 NOM1_HUMAN nucleolar protein with MIF4G domain 1 264 Glu-rich.|Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus. RNA metabolic process nucleolus protein binding endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 31 Ovarian(565;0.218) all_hematologic(28;0.0749) OV - Ovarian serous cystadenocarcinoma(82;0.00301) UCEC - Uterine corpus endometrioid carcinoma (81;0.169) ggacgaaagtgaggaggaggagg 0.552 11 337 --- --- --- --- ANGPT2 285 broad.mit.edu 37 8 6378797 6378798 + Frame_Shift_Ins INS - - T rs34047276 TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr8:6378797_6378798insT ENST00000325203.5 - 4 1174_1175 c.700_701insA c.(700-702)agtfs p.S234fs ANGPT2_ENST00000523120.1_Frame_Shift_Ins_p.S234fs|ANGPT2_ENST00000338312.6_Frame_Shift_Ins_p.S182fs|ANGPT2_ENST00000415216.1_Frame_Shift_Ins_p.S234fs|MCPH1_ENST00000344683.5_Intron O15123 ANGP2_HUMAN angiopoietin 2 234 angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway extracellular space metal ion binding|receptor tyrosine kinase binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 Hepatocellular(245;0.0663) Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226) GGCAGTCACTATTTTTTTTTCT 0.366 18 512 --- --- --- --- FAM66D 0 broad.mit.edu 37 8 11994579 11994580 + RNA DEL TG TG - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr8:11994579_11994580delTG ENST00000434078.2 + 0 608 NR_027425.1 TGTTCgtgtttgtgtgtgtgtg 0.505 10 220 --- --- --- --- NAT1 9 broad.mit.edu 37 8 18079851 18079851 + Frame_Shift_Del DEL A A - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr8:18079851delA ENST00000539092.1 + 5 986 c.295delA c.(295-297)aafs p.K100fs NAT1_ENST00000535084.1_Frame_Shift_Del_p.K100fs|NAT1_ENST00000520546.1_Frame_Shift_Del_p.K100fs|NAT1_ENST00000517441.1_3'UTR|NAT1_ENST00000518029.1_Frame_Shift_Del_p.K100fs|NAT1_ENST00000307719.4_Frame_Shift_Del_p.K100fs|NAT1_ENST00000545197.1_Frame_Shift_Del_p.K162fs|NAT1_ENST00000517492.1_Frame_Shift_Del_p.K100fs|NAT1_ENST00000541942.1_Frame_Shift_Del_p.K100fs NM_001160170.1|NM_001160172.1 NP_001153642.1|NP_001153644.1 P18440 ARY1_HUMAN N-acetyltransferase 1 (arylamine N-acetyltransferase) 100 xenobiotic metabolic process cytosol arylamine N-acetyltransferase activity NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(2)|urinary_tract(1) 9 Colorectal(111;0.0519)|COAD - Colon adenocarcinoma(73;0.208) CACTCCAGCCAAAAAATACAG 0.488 7 1128 --- --- --- --- BMP1 649 broad.mit.edu 37 8 22058706 22058706 + Frame_Shift_Del DEL C C - rs143154292 TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr8:22058706delC ENST00000306349.8 + 16 2337 c.2183delC c.(2182-2184)acfs p.T728fs BMP1_ENST00000306385.5_Intron|BMP1_ENST00000354870.5_Intron NM_001199.3 NP_001190.1 P13497 BMP1_HUMAN bone morphogenetic protein 1 0 EGF-like 2; calcium-binding (Potential). cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis extracellular space calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3) 30 Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11) AGAAACCGGACCCCCCAGTGA 0.617 7 2036 --- --- --- --- WRN 7486 broad.mit.edu 37 8 30945377 30945379 + In_Frame_Del DEL AAG AAG - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr8:30945377_30945379delAAG ENST00000298139.5 + 12 1766_1768 c.1517_1519delAAG c.(1516-1521)aaa>a p.KE506del NM_000553.4 NP_000544.2 Q14191 WRN_HUMAN Werner syndrome, RecQ helicase-like 506 base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3) 60 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) CTTCCTACTAaagaagaagaaga 0.360 """Mis, N, F, S""" """osteosarcoma, meningioma, others""" Genes defective in diseases associated with sensitivity to DNA damaging agents Werner syndrome 8 512 --- --- --- --- KAT6A 7994 broad.mit.edu 37 8 41798420 41798422 + In_Frame_Del DEL CTC CTC - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr8:41798420_41798422delCTC ENST00000396930.3 - 16 3520_3522 c.2977_2979delGAG c.(2977-2979)del p.E993del KAT6A_ENST00000265713.2_In_Frame_Del_p.E993del|KAT6A_ENST00000406337.1_In_Frame_Del_p.E993del NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 993 Poly-Glu. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding GGCTTTCCGGCTCCTCCTCCTCC 0.567 12 1057 --- --- --- --- PREX2 80243 broad.mit.edu 37 8 68992720 68992721 + Frame_Shift_Ins INS - - T TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr8:68992720_68992721insT ENST00000288368.4 + 16 1962_1963 c.1685_1686insT c.(1684-1686)cttfs p.L562fs PREX2_ENST00000529398.1_3'UTR NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 562 DEP 2. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 CTACTTTTCCGTTTTTTTTCGG 0.332 8 312 --- --- --- --- TP53INP1 0 broad.mit.edu 37 8 95952409 95952411 + In_Frame_Del DEL TCT TCT - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr8:95952409_95952411delTCT ENST00000342697.4 - 3 557_559 c.150_152delAGA c.(148-153)gag>ga p.EE50del TP53INP1_ENST00000378776.4_In_Frame_Del_p.EE50del|NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000448464.2_In_Frame_Del_p.EE50del NM_033285.3 NP_150601.1 Q96A56 T53I1_HUMAN tumor protein p53 inducible nuclear protein 1 50 Glu-rich. apoptosis PML body p.E50E(1) kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 9 Breast(36;8.75e-07) GATGTCCTCCTCTTCTTCTTCTT 0.458 8 349 --- --- --- --- RGS22 26166 broad.mit.edu 37 8 101076179 101076181 + In_Frame_Del DEL CTT CTT - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr8:101076179_101076181delCTT ENST00000360863.6 - 8 1009_1011 c.815_817delAAG c.(814-819)gga>g p.EG272del RGS22_ENST00000523437.1_In_Frame_Del_p.EG260del|RGS22_ENST00000523287.1_In_Frame_Del_p.EG91del NM_015668.3 NP_056483.3 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 272 Poly-Glu. negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity RGS22/SYCP1(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) tcttcttctccttcttcttcttc 0.374 7 991 --- --- --- --- PKHD1L1 93035 broad.mit.edu 37 8 110455173 110455174 + Splice_Site INS - - G TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr8:110455173_110455174insG ENST00000378402.5 + 36 4497 c.e36-1 NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) ATTTTATGGCAGGTTCATTTTC 0.322 HNSCC(38;0.096) 15 489 --- --- --- --- ATAD2 29028 broad.mit.edu 37 8 124384893 124384893 + Frame_Shift_Del DEL T T - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr8:124384893delT ENST00000287394.5 - 3 461 c.354delA c.(352-354)aafs p.K118fs ATAD2_ENST00000521903.1_5'UTR NM_014109.3 NP_054828.2 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 118 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity p.E119fs*8(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) TGTGCTCTTCTTTTTTTTTAT 0.269 15 905 --- --- --- --- CYP11B2 1585 broad.mit.edu 37 8 143993951 143993953 + In_Frame_Del DEL GCA GCA - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr8:143993951_143993953delGCA ENST00000323110.2 - 8 1393_1395 c.1391_1393delTGC c.(1390-1395)cac>c p.LH464del NM_000498.3 NP_000489.3 P19099 C11B2_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 2 464 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3) 39 all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Candesartan(DB00796)|Metyrapone(DB01011) CTTACGTGGTGCAGCAGCAGCAG 0.685 Familial Hyperaldosteronism type I 7 403 --- --- --- --- PLEC 5339 broad.mit.edu 37 8 145000951 145000953 + Splice_Site DEL CCT CCT - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr8:145000951_145000953delCCT ENST00000322810.4 - 30 4623_4625 c.4455_splice c.e30+1 p.G1485_splice PLEC_ENST00000527096.1_Splice_Site_p.G1371_splice|PLEC_ENST00000356346.3_Splice_Site_p.G1334_splice|PLEC_ENST00000345136.3_Splice_Site_p.G1348_splice|PLEC_ENST00000398774.2_Splice_Site_p.G1316_splice|PLEC_ENST00000357649.2_Splice_Site_p.G1352_splice|PLEC_ENST00000354958.2_Splice_Site_p.G1326_splice|PLEC_ENST00000354589.3_Splice_Site_p.G1348_splice|PLEC_ENST00000436759.2_Splice_Site_p.G1375_splice NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 1485 Central fibrous rod domain. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 ACGGGCTGTACCTCCTCCTCCTC 0.621 9 808 --- --- --- --- KANK1 23189 broad.mit.edu 37 9 732475 732477 + In_Frame_Del DEL GAG GAG - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr9:732475_732477delGAG ENST00000382303.1 + 10 3755_3757 c.3103_3105delGAG c.(3103-3105)del p.E1039del KANK1_ENST00000382297.2_In_Frame_Del_p.E1039del|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_In_Frame_Del_p.E881del NM_001256876.1 NP_001243805.1 Q14678 KANK1_HUMAN KN motif and ankyrin repeat domains 1 1039 negative regulation of actin filament polymerization cytoplasm autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1) 43 Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128) Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222) TCTTGAAGAAGAGGAGGAGGAGG 0.463 11 728 --- --- --- --- RANBP6 26953 broad.mit.edu 37 9 6012690 6012690 + Frame_Shift_Del DEL T T - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr9:6012690delT ENST00000259569.5 - 1 2928 c.2918delA c.(2917-2919)atfs p.N973fs NM_001243202.1|NM_001243203.1|NM_012416.3 NP_001230131.1|NP_001230132.1|NP_036548.1 O60518 RNBP6_HUMAN RAN binding protein 6 973 protein transport cytoplasm|nucleus binding p.N973fs*12(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 51 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101) AGCAATGACATTTTTTTTGGT 0.358 7 459 --- --- --- --- PLIN2 123 broad.mit.edu 37 9 19119813 19119813 + Frame_Shift_Del DEL T T - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr9:19119813delT ENST00000276914.2 - 6 791 c.612delA c.(610-612)aafs p.K204fs PLIN2_ENST00000411567.1_Frame_Shift_Del_p.K161fs NM_001122.3 NP_001113.2 Q99541 PLIN2_HUMAN perilipin 2 204 cellular lipid metabolic process endoplasmic reticulum|extracellular region|lipid particle breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 19 ATCCTTCAACTTTTTTTGCTT 0.428 7 861 --- --- --- --- HRCT1 646962 broad.mit.edu 37 9 35906348 35906350 + In_Frame_Del DEL CTG CTG - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr9:35906348_35906350delCTG ENST00000354323.2 + 1 160_162 c.64_66delCTG c.(64-66)del p.L28del NM_001039792.1 NP_001034881.1 Q6UXD1 HRCT1_HUMAN histidine rich carboxyl terminus 1 28 integral to membrane NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1) 4 TGTGGCGGTCctgctgctgctgc 0.670 7 130 --- --- --- --- ECM2 1842 broad.mit.edu 37 9 95277146 95277148 + In_Frame_Del DEL TCC TCC - rs137929518 byFrequency TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr9:95277146_95277148delTCC ENST00000344604.5 - 4 968_970 c.819_821delGGA c.(817-822)gat>ga p.ED273del ECM2_ENST00000444490.2_In_Frame_Del_p.ED251del|CENPP_ENST00000375587.3_Intron NM_001197295.1|NM_001393.3 NP_001184224.1|NP_001384.1 O94769 ECM2_HUMAN extracellular matrix protein 2, female organ and adipocyte specific 273 Poly-Glu. cell-matrix adhesion integrin binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 ctcctcctcatcctcctcctcct 0.606 15 950 --- --- --- --- PALM2-AKAP2 0 broad.mit.edu 37 9 112899370 112899372 + In_Frame_Del DEL CAG CAG - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr9:112899370_112899372delCAG ENST00000374530.3 + 8 1726_1728 c.1546_1548delCAG c.(1546-1548)del p.Q521del AKAP2_ENST00000555236.1_In_Frame_Del_p.Q521del|PALM2-AKAP2_ENST00000302798.7_In_Frame_Del_p.Q521del|AKAP2_ENST00000374525.1_In_Frame_Del_p.Q379del|AKAP2_ENST00000434623.2_In_Frame_Del_p.Q379del|AKAP2_ENST00000259318.7_In_Frame_Del_p.Q290del|AKAP2_ENST00000510514.5_In_Frame_Del_p.Q521del NM_007203.4|NM_147150.2 NP_009134.1|NP_671492.1 Q9Y2D5 AKAP2_HUMAN 290 enzyme binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 44 gaagcagttacagcagcagcagc 0.552 7 197 --- --- --- --- ASTN2 23245 broad.mit.edu 37 9 119976989 119976991 + In_Frame_Del DEL CAG CAG - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr9:119976989_119976991delCAG ENST00000313400.4 - 3 761_763 c.661_663delCTG c.(661-663)del p.L221del ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del O75129 ASTN2_HUMAN astrotactin 2 221 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 CGGTGAACACCAGCAGCAGCAGC 0.601 15 385 --- --- --- --- SNAPC4 6621 broad.mit.edu 37 9 139277995 139277997 + In_Frame_Del DEL GCT GCT - rs34222232 TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr9:139277995_139277997delGCT ENST00000298532.2 - 15 1992_1994 c.1624_1626delAGC c.(1624-1626)del p.S542del NM_003086.2 NP_003077.2 Q5SXM2 SNPC4_HUMAN small nuclear RNA activating complex, polypeptide 4, 190kDa 542 snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter snRNA-activating protein complex DNA binding|sequence-specific DNA binding transcription factor activity p.S542delS(2) biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 33 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06) CGTCCTCCTCgctgctgctgctg 0.690 10 91 --- --- --- --- RABL6 55684 broad.mit.edu 37 9 139734633 139734635 + In_Frame_Del DEL AGA AGA - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr9:139734633_139734635delAGA ENST00000371675.3 + 14 2498_2500 c.1613_1615delAGA c.(1612-1617)gag>g p.EK538del RABL6_ENST00000311502.7_In_Frame_Del_p.EK653del|RABL6_ENST00000432842.2_3'UTR|RABL6_ENST00000371663.4_In_Frame_Del_p.EK654del|RABL6_ENST00000357466.2_Intron RAB, member RAS oncogene family-like 6 CCCTCTaaggagaagaagaagaa 0.571 19 499 --- --- --- --- ZMYND19 116225 broad.mit.edu 37 9 140481542 140481542 + Frame_Shift_Del DEL C C - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr9:140481542delC ENST00000298585.2 - 4 462 c.236delG c.(235-237)gcfs p.G79fs ZMYND19_ENST00000471957.1_5'UTR NM_138462.2 NP_612471.1 Q96E35 ZMY19_HUMAN zinc finger, MYND-type containing 19 79 Golgi apparatus|plasma membrane zinc ion binding p.V80fs*34(2) endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1) 13 all_cancers(76;0.106) OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047) CGGGGCCACGCCCCCCCGGTG 0.632 7 776 --- --- --- --- SFMBT2 57713 broad.mit.edu 37 10 7212995 7212997 + In_Frame_Del DEL CTC CTC - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr10:7212995_7212997delCTC ENST00000361972.4 - 20 2527_2529 c.2437_2439delGAG c.(2437-2439)del p.E813del SFMBT2_ENST00000397167.1_In_Frame_Del_p.E813del NM_001018039.1 NP_001018049.1 Q5VUG0 SMBT2_HUMAN Scm-like with four mbt domains 2 813 regulation of transcription, DNA-dependent nucleus NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 99 GAACCAGTCTCTCCTCCTCCTCC 0.596 8 1029 --- --- --- --- KIAA1217 56243 broad.mit.edu 37 10 24822125 24822127 + In_Frame_Del DEL GAA GAA - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr10:24822125_24822127delGAA ENST00000376451.2 + 11 2682_2684 c.2422_2424delGAA c.(2422-2424)del p.E812del KIAA1217_ENST00000458595.1_In_Frame_Del_p.E1094del|KIAA1217_ENST00000376462.1_In_Frame_Del_p.E1049del|KIAA1217_ENST00000396446.1_In_Frame_Del_p.E812del|KIAA1217_ENST00000396445.1_In_Frame_Del_p.E812del|KIAA1217_ENST00000376454.3_In_Frame_Del_p.E1129del|KIAA1217_ENST00000307544.6_In_Frame_Del_p.E812del|KIAA1217_ENST00000376452.3_In_Frame_Del_p.E1093del Q5T5P2 SKT_HUMAN KIAA1217 1129 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 GGATGAGGAGGAAGAAGAAGAAG 0.552 7 526 --- --- --- --- SYT15 83849 broad.mit.edu 37 10 46969401 46969403 + In_Frame_Del DEL CAG CAG - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr10:46969401_46969403delCAG ENST00000374325.3 - 2 210_212 c.58_60delCTG c.(58-60)del p.L21del SYT15_ENST00000374323.3_Intron|SYT15_ENST00000374321.4_In_Frame_Del_p.L21del|SYT15_ENST00000503753.1_In_Frame_Del_p.L21del NM_181519.2 NP_852660.1 Q9BQS2 SYT15_HUMAN synaptotagmin XV 21 integral to membrane|plasma membrane cervix(1)|endometrium(5)|kidney(2)|lung(5) 13 CCCCGATCAACAGCAGCAGCAGC 0.631 7 251 --- --- --- --- ARID5B 84159 broad.mit.edu 37 10 63852298 63852298 + Frame_Shift_Del DEL A A - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr10:63852298delA ENST00000279873.7 + 10 3486 c.3076delA c.(3076-3078)aafs p.K1027fs ARID5B_ENST00000309334.5_Frame_Shift_Del_p.K784fs NM_032199.2 NP_115575.1 Q14865 ARI5B_HUMAN AT rich interactive domain 5B (MRF1-like) 1027 liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent protein binding|transcription regulatory region DNA binding NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 Prostate(12;0.016)|all_hematologic(501;0.215) GATTGCAGGGAAAAAGGCCCG 0.607 8 933 --- --- --- --- CCAR1 55749 broad.mit.edu 37 10 70509285 70509286 + Frame_Shift_Del DEL GA GA - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr10:70509285_70509286delGA ENST00000265872.6 + 10 1080_1081 c.961_962delGA c.(961-963)gfs p.E321fs CCAR1_ENST00000543719.1_Frame_Shift_Del_p.E306fs|CCAR1_ENST00000535016.1_Frame_Shift_Del_p.E306fs NM_018237.2 NP_060707.2 Q8IX12 CCAR1_HUMAN cell division cycle and apoptosis regulator 1 321 Arg-rich. apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm|perinuclear region of cytoplasm calcium ion binding|nucleic acid binding|protein binding NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3) 56 TTTCAGTCGTGAGAGAGAGAGA 0.391 9 247 --- --- --- --- SEC24C 9632 broad.mit.edu 37 10 75525560 75525560 + Frame_Shift_Del DEL C C - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr10:75525560delC ENST00000339365.2 + 11 1531 c.1369delC c.(1369-1371)ccfs p.P458fs SEC24C_ENST00000411652.2_Frame_Shift_Del_p.P339fs|SEC24C_ENST00000345254.4_Frame_Shift_Del_p.P458fs|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000535742.1_Intron NM_004922.3 NP_004913.2 P53992 SC24C_HUMAN SEC24 family member C 458 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 Prostate(51;0.0112) TCCCACAGTTCCCCCCCAGTA 0.507 8 998 --- --- --- --- ZMIZ1 57178 broad.mit.edu 37 10 81072446 81072446 + Frame_Shift_Del DEL C C - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr10:81072446delC ENST00000334512.5 + 25 3716 c.3144delC c.(3142-3144)gafs p.D1048fs ZMIZ1_ENST00000446377.2_Frame_Shift_Del_p.D114fs NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 1048 transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) CTTATCTGGACCCCCCCGACC 0.557 9 1924 --- --- --- --- LZTS2 84445 broad.mit.edu 37 10 102763415 102763417 + In_Frame_Del DEL CCT CCT - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr10:102763415_102763417delCCT ENST00000370220.1 + 2 3623_3625 c.560_562delCCT c.(559-564)gcc>g p.AS187del LZTS2_ENST00000370223.3_In_Frame_Del_p.AS187del Q9BRK4 LZTS2_HUMAN leucine zipper, putative tumor suppressor 2 187 Required for centrosomal localization (By similarity). cell division|mitosis|Wnt receptor signaling pathway membrane|microtubule|microtubule organizing center breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 Epithelial(162;7.3e-09)|all cancers(201;3.72e-07) GGGGGCCCTGcctcctcctcctc 0.650 9 1363 --- --- --- --- NOLC1 9221 broad.mit.edu 37 10 103919000 103919002 + In_Frame_Del DEL AGC AGC - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr10:103919000_103919002delAGC ENST00000405356.1 + 6 893_895 c.658_660delAGC c.(658-660)del p.S227del NOLC1_ENST00000488254.2_In_Frame_Del_p.S228del|NOLC1_ENST00000603742.1_5'UTR|NOLC1_ENST00000605788.1_In_Frame_Del_p.S227del Q14978 NOLC1_HUMAN nucleolar and coiled-body phosphoprotein 1 227 11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194. mitosis|rRNA processing cytoplasm|nucleolus ATP binding|GTP binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 31 Colorectal(252;0.122) Epithelial(162;5.19e-08)|all cancers(201;9.43e-07) tagcagcagtagcagcagcagca 0.517 12 989 --- --- --- --- SLK 9748 broad.mit.edu 37 10 105727547 105727549 + In_Frame_Del DEL AGA AGA - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr10:105727547_105727549delAGA ENST00000369755.3 + 1 589_591 c.44_46delAGA c.(43-48)gag>g p.EK15del SLK_ENST00000335753.4_In_Frame_Del_p.EK15del NM_014720.2 NP_055535.2 Q9H2G2 SLK_HUMAN STE20-like kinase 15 apoptosis|nucleotide-excision repair cytoplasm|plasma membrane ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2) 8 Colorectal(252;0.178) Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) TTGGGGAGCGAGAAGAAGAAGAA 0.448 7 718 --- --- --- --- AFAP1L2 84632 broad.mit.edu 37 10 116062107 116062107 + Frame_Shift_Del DEL T T - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr10:116062107delT ENST00000369271.3 - 12 1721 c.1421delA c.(1420-1422)acfs p.N474fs AFAP1L2_ENST00000545353.1_Frame_Shift_Del_p.N527fs|AFAP1L2_ENST00000304129.4_Frame_Shift_Del_p.N474fs NM_001001936.1|NM_032550.2 NP_001001936.1|NP_115939.1 Q8N4X5 AF1L2_HUMAN actin filament associated protein 1-like 2 474 inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle cytoplasm protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2) 21 Colorectal(252;0.175)|Breast(234;0.231) Epithelial(162;0.0219)|all cancers(201;0.0561) CAAGAGAGAGTTTTTGGCCGC 0.547 8 1462 --- --- --- --- HMX2 3167 broad.mit.edu 37 10 124909413 124909414 + Frame_Shift_Ins INS - - C TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr10:124909413_124909414insC ENST00000339992.3 + 2 853_854 c.596_597insC c.(595-597)acgfs p.T199fs NM_005519.1 NP_005510.1 A2RU54 HMX2_HUMAN H6 family homeobox 2 199 cell differentiation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|lung(4)|prostate(1) 7 all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222) Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141) TGGTTCCAGAACCGCCGCAACA 0.649 7 176 --- --- --- --- CPXM2 119587 broad.mit.edu 37 10 125528165 125528167 + In_Frame_Del DEL CAG CAG - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr10:125528165_125528167delCAG ENST00000241305.3 - 9 1328_1330 c.1174_1176delCTG c.(1174-1176)del p.L392del CPXM2_ENST00000368854.3_5'UTR NM_198148.2 NP_937791.2 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 392 Poly-Leu. cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) CGAACTGCACCAGCAGCAGCAGC 0.626 11 1173 --- --- --- --- TRIM21 6737 broad.mit.edu 37 11 4409705 4409705 + Frame_Shift_Del DEL T T - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr11:4409705delT ENST00000254436.7 - 4 672 c.560delA c.(559-561)acfs p.N187fs TRIM21_ENST00000543625.1_Frame_Shift_Del_p.N187fs NM_003141.3 NP_003132.2 P19474 RO52_HUMAN tripartite motif containing 21 187 cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization cytoplasmic mRNA processing body|nucleus DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3) 16 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194) AACCAGGAAGTTTTTTTGCTG 0.483 7 2068 --- --- --- --- OR10A5 144124 broad.mit.edu 37 11 6867223 6867225 + In_Frame_Del DEL TTC TTC - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr11:6867223_6867225delTTC ENST00000299454.4 + 1 341_343 c.310_312delTTC c.(310-312)del p.F108del OR10A5_ENST00000379831.2_In_Frame_Del_p.F112del Q9H207 O10A5_HUMAN olfactory receptor, family 10, subfamily A, member 5 108 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2) 21 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) TCAGATGTATTTCTTCTTCTTCT 0.517 11 775 --- --- --- --- SWAP70 23075 broad.mit.edu 37 11 9735070 9735070 + Frame_Shift_Del DEL A A - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr11:9735070delA ENST00000318950.6 + 3 401 c.298delA c.(298-300)aafs p.K101fs SWAP70_ENST00000447399.2_Intron NM_015055.2 NP_055870.2 Q9UH65 SWP70_HUMAN SWAP switching B-cell complex 70kDa subunit 101 cytoplasm|lamellipodium|nucleus|plasma membrane calcium ion binding|DNA binding NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1) 11 all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649) CCTCTGTGTCAAAAAAAACCT 0.343 10 469 --- --- --- --- SPON1 10418 broad.mit.edu 37 11 14063263 14063263 + RNA DEL A A - rs113227652 TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr11:14063263delA ENST00000310358.7 + 0 1017 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein cell adhesion extracellular space|proteinaceous extracellular matrix protein binding NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 21 Epithelial(150;0.00898) GATTGCAGGGAAAAAAAAAAA 0.423 17 76 --- --- --- --- CKAP5 9793 broad.mit.edu 37 11 46829683 46829683 + Frame_Shift_Del DEL T T - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr11:46829683delT ENST00000529230.1 - 8 922 c.876delA c.(874-876)aafs p.K292fs CKAP5_ENST00000312055.5_Frame_Shift_Del_p.K292fs|CKAP5_ENST00000415402.1_Frame_Shift_Del_p.K292fs|CKAP5_ENST00000354558.3_Frame_Shift_Del_p.K292fs Q14008 CKAP5_HUMAN cytoskeleton associated protein 5 292 cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization centrosome|cytosol protein binding breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 43 TCTCTTGCCATTTTTTTGCCT 0.363 9 1185 --- --- --- --- FAM111B 374393 broad.mit.edu 37 11 58892377 58892377 + Frame_Shift_Del DEL A A - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr11:58892377delA ENST00000343597.3 + 4 998 c.807delA c.(805-807)tcfs p.S269fs FAM111B_ENST00000529618.1_Frame_Shift_Del_p.S239fs|FAM111B_ENST00000411426.1_Frame_Shift_Del_p.S239fs NM_198947.3 NP_945185.1 Q6SJ93 F111B_HUMAN family with sequence similarity 111, member B 269 catalytic activity p.A273fs*9(1)|p.K272delK(1)|p.A273fs*26(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1) 40 TGGACATTTCAAAAAAAAAAG 0.313 18 311 --- --- --- --- TMEM132A 54972 broad.mit.edu 37 11 60703785 60703787 + In_Frame_Del DEL GGA GGA - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr11:60703785_60703787delGGA ENST00000005286.4 + 11 2634_2636 c.2481_2483delGGA c.(2479-2484)agg>ag p.RE827del TMEM132A_ENST00000453848.2_In_Frame_Del_p.RE826del NM_017870.3|NM_178031.2 NP_060340.2|NP_821174.1 Q24JP5 T132A_HUMAN transmembrane protein 132A 826 Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity).|Glu-rich. endoplasmic reticulum membrane|Golgi membrane|integral to membrane breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3) 32 CCGAAGCCAGggaggaggaggag 0.635 7 615 --- --- --- --- FADS2 9415 broad.mit.edu 37 11 61607885 61607887 + In_Frame_Del DEL TCC TCC - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr11:61607885_61607887delTCC ENST00000278840.4 + 3 1028_1030 c.398_400delTCC c.(397-402)ttc>t p.FL133del FADS2_ENST00000257261.6_In_Frame_Del_p.FL111del|FADS2_ENST00000521849.1_In_Frame_Del_p.FL133del|FADS2_ENST00000522056.1_In_Frame_Del_p.FL102del NM_004265.2 NP_004256.1 O95864 FADS2_HUMAN fatty acid desaturase 2 133 electron transport chain|transport|unsaturated fatty acid biosynthetic process endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction heme binding breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 20 Alpha-Linolenic Acid(DB00132) CACGTGTTCTTCCTCCTCCTCCT 0.537 7 1203 --- --- --- --- RTN3 10313 broad.mit.edu 37 11 63525655 63525656 + Frame_Shift_Ins INS - - A TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr11:63525655_63525656insA ENST00000377819.5 + 9 3235_3236 c.3081_3082insA c.(3079-3084)gcaaaafs p.AK1027fs RTN3_ENST00000540798.1_Frame_Shift_Ins_p.AK915fs|RTN3_ENST00000339997.4_Frame_Shift_Ins_p.AK1008fs|RTN3_ENST00000356000.3_Frame_Shift_Ins_p.AK250fs|RTN3_ENST00000341307.2_Frame_Shift_Ins_p.K212fs|RTN3_ENST00000537981.1_Frame_Shift_Ins_p.AK231fs|RTN3_ENST00000354497.4_Frame_Shift_Ins_p.Q146fs NM_001265589.1 NP_001252518.1 O95197 RTN3_HUMAN reticulon 3 1027 Interaction with FADD.|Reticulon. apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 20 CTGGAATCGCCAAAAAAAAGGC 0.337 9 295 --- --- --- --- LRFN4 78999 broad.mit.edu 37 11 66625231 66625233 + In_Frame_Del DEL CTG CTG - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr11:66625231_66625233delCTG ENST00000309602.4 + 1 259_261 c.16_18delCTG c.(16-18)del p.L10del PC_ENST00000393955.2_Intron|LRFN4_ENST00000393952.3_In_Frame_Del_p.L10del|PC_ENST00000393958.2_Intron|PC_ENST00000393960.1_Intron|LRFN4_ENST00000531590.1_3'UTR NM_024036.4 NP_076941.2 Q6PJG9 LRFN4_HUMAN leucine rich repeat and fibronectin type III domain containing 4 10 integral to membrane breast(1)|lung(1)|prostate(1) 3 CCCGCCGCTCCTGCTGCTGCTGC 0.719 10 239 --- --- --- --- TSKU 25987 broad.mit.edu 37 11 76506673 76506675 + In_Frame_Del DEL CTG CTG - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr11:76506673_76506675delCTG ENST00000527881.1 + 2 1039_1041 c.13_15delCTG c.(13-15)del p.L9del TSKU_ENST00000333090.4_In_Frame_Del_p.L9del Q8WUA8 TSK_HUMAN tsukushi, small leucine rich proteoglycan 9 extracellular region NS(1)|large_intestine(4)|lung(6)|urinary_tract(1) 12 Ovarian(111;0.112) GCCGTGGCCCCTGCTGCTGCTGC 0.616 19 432 --- --- --- --- SYTL2 54843 broad.mit.edu 37 11 85437269 85437269 + Frame_Shift_Del DEL T T - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr11:85437269delT ENST00000359152.5 - 1 1802 c.1803delA c.(1801-1803)aafs p.K601fs SYTL2_ENST00000525423.1_Frame_Shift_Del_p.K77fs|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000354566.3_Frame_Shift_Del_p.K77fs NM_206928.2 NP_996811.1 Q9HCH5 SYTL2_HUMAN synaptotagmin-like 2 113 Ser-rich. intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) TTGCCATAACTTTTTTTGGGC 0.373 8 671 --- --- --- --- NOX4 50507 broad.mit.edu 37 11 89106662 89106663 + Splice_Site INS - - A rs56022003 TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr11:89106662_89106663insA ENST00000535633.1 - 12 1313 c.e12-2 NOX4_ENST00000532825.1_Splice_Site|NOX4_ENST00000527626.1_Splice_Site|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000531342.1_Splice_Site|NOX4_ENST00000424319.1_Splice_Site|NOX4_ENST00000527956.1_Splice_Site|NOX4_ENST00000263317.4_Splice_Site|NOX4_ENST00000542487.1_Splice_Site|NOX4_ENST00000343727.5_Splice_Site|NOX4_ENST00000528341.1_Splice_Site|NOX4_ENST00000413594.2_Splice_Site|NOX4_ENST00000375979.3_Splice_Site|NOX4_ENST00000534731.1_Splice_Site NM_001143836.1|NM_016931.3 NP_001137308.1|NP_058627.1 Q9NPH5 NOX4_HUMAN NADPH oxidase 4 cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity p.?(1) NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2) 44 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011) AGTTGGACACTAAAAAAAAATA 0.292 20 713 --- --- --- --- MMP12 4321 broad.mit.edu 37 11 102738793 102738794 + RNA INS - - T rs35342965 by1000genomes TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr11:102738793_102738794insT ENST00000532855.1 - 0 727_728 P39900 MMP12_HUMAN matrix metallopeptidase 12 (macrophage elastase) positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) TGAGGAACAAGTGGTGCCTAAG 0.416 13 86 --- --- --- --- DDX10 1662 broad.mit.edu 37 11 108788635 108788637 + In_Frame_Del DEL TGA TGA - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr11:108788635_108788637delTGA ENST00000526794.1 + 17 2372_2374 c.2340_2342delTGA c.(2338-2343)agt>ag p.SD780del DDX10_ENST00000322536.3_In_Frame_Del_p.SD780del Q13206 DDX10_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 780 ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2) 27 all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729) BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133) TGGATTGGAGtgatgatgatgat 0.355 T NUP98 AML* 11 430 --- --- --- --- GLB1L2 89944 broad.mit.edu 37 11 134226204 134226204 + Frame_Shift_Del DEL G G - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr11:134226204delG ENST00000535456.2 + 6 756 c.568delG c.(568-570)ggfs p.G191fs GLB1L2_ENST00000389881.3_Frame_Shift_Del_p.G191fs|GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000339772.7_Frame_Shift_Del_p.G191fs NM_138342.3 NP_612351.2 Q8IW92 GLBL2_HUMAN galactosidase, beta 1-like 2 191 carbohydrate metabolic process extracellular region cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 all_hematologic(175;0.127) all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844) Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223) GTACAAGCGTGGGGGACCTAT 0.493 7 1429 --- --- --- --- IFFO1 25900 broad.mit.edu 37 12 6649704 6649706 + In_Frame_Del DEL GGC GGC - rs144019095 TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr12:6649704_6649706delGGC ENST00000436152.2 - 11 1273_1275 c.714_716delGCC c.(712-717)cca>cc p.PP238del IFFO1_ENST00000356896.4_In_Frame_Del_p.PP545del|IFFO1_ENST00000396840.2_In_Frame_Del_p.PP541del|IFFO1_ENST00000465801.1_In_Frame_Del_p.PP237del|IFFO1_ENST00000336604.4_In_Frame_Del_p.PP544del Q0D2I5 IFFO1_HUMAN intermediate filament family orphan 1 541 intermediate filament central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 20 AGCCTCGCTTGGCGGCGGCGGCG 0.601 7 589 --- --- --- --- CHD4 1108 broad.mit.edu 37 12 6711207 6711209 + In_Frame_Del DEL CTT CTT - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr12:6711207_6711209delCTT ENST00000309577.6 - 4 518_520 c.355_357delAAG c.(355-357)del p.K119del CHD4_ENST00000544484.1_In_Frame_Del_p.K116del|CHD4_ENST00000357008.2_In_Frame_Del_p.K119del|CHD4_ENST00000544040.1_In_Frame_Del_p.K112del Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 119 Poly-Lys. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding p.K119delK(3) central_nervous_system(2) 2 TAGGTCCAAGCTTCTTCTTCTTC 0.537 14 346 --- --- --- --- ITPR2 3709 broad.mit.edu 37 12 26572009 26572009 + Frame_Shift_Del DEL A A - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr12:26572009delA ENST00000381340.3 - 50 7499 c.7083delT c.(7081-7083)ttfs p.F2361fs RP11-513G19.1_ENST00000535324.1_RNA NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 2361 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) ATTCATGGACAAAAAGGCCCA 0.478 7 419 --- --- --- --- PRPF40B 25766 broad.mit.edu 37 12 50025258 50025258 + Frame_Shift_Del DEL C C - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr12:50025258delC ENST00000261897.1 + 2 626 c.75delC c.(73-75)atfs p.I25fs PRPF40B_ENST00000380281.1_Frame_Shift_Del_p.I31fs|PRPF40B_ENST00000548825.2_Frame_Shift_Del_p.I53fs Q6NWY9 PR40B_HUMAN PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) 31 Pro-rich. mRNA processing|RNA splicing nuclear speck breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 CACCAGCTATCCCCCCCATGC 0.607 7 1160 --- --- --- --- LRP1 4035 broad.mit.edu 37 12 57605740 57605742 + In_Frame_Del DEL TGC TGC - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr12:57605740_57605742delTGC ENST00000243077.3 + 87 13755_13757 c.13289_13291delTGC c.(13288-13293)ttg>t p.LL4432del NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 4432 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CCTCTGCTGTTGCTGCTGCTGCT 0.557 8 821 --- --- --- --- MBD6 0 broad.mit.edu 37 12 57919306 57919306 + Frame_Shift_Del DEL C C - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr12:57919306delC ENST00000355673.3 + 6 911 c.555delC c.(553-555)ttfs p.F185fs MBD6_ENST00000431731.2_Frame_Shift_Del_p.F185fs NM_052897.3 NP_443129.3 Q96DN6 MBD6_HUMAN methyl-CpG binding domain protein 6 185 Pro-rich. chromosome|nucleus chromatin binding|DNA binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1) 31 GGGGGCTTTTCCCCCCAAGGC 0.642 7 842 --- --- --- --- TMBIM4 51643 broad.mit.edu 37 12 66531936 66531937 + Frame_Shift_Ins INS - - A TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr12:66531936_66531937insA ENST00000358230.3 - 7 640_641 c.520_521insT c.(520-522)tagfs p.*174fs TMBIM4_ENST00000398033.4_Frame_Shift_Ins_p.S159fs|TMBIM4_ENST00000556010.1_Intron|TMBIM4_ENST00000286424.7_Frame_Shift_Ins_p.*221fs|TMBIM4_ENST00000542724.1_Frame_Shift_Ins_p.*143fs|TMBIM4_ENST00000544599.1_5'UTR|TMBIM4_ENST00000539652.1_Intron NM_016056.2 NP_057140.2 Q9HC24 TMBI4_HUMAN transmembrane BAX inhibitor motif containing 4 174 integral to membrane protein binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2) 9 GBM - Glioblastoma multiforme(28;0.0745) TATCTCACTATAAAAAAAAAAC 0.351 13 281 --- --- --- --- MYBPC1 4604 broad.mit.edu 37 12 102057274 102057274 + Frame_Shift_Del DEL C C - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr12:102057274delC ENST00000549145.1 + 21 2356 c.2256delC c.(2254-2256)cgfs p.R752fs MYBPC1_ENST00000547405.1_Frame_Shift_Del_p.R713fs|MYBPC1_ENST00000553190.1_Frame_Shift_Del_p.R739fs|MYBPC1_ENST00000360610.2_Frame_Shift_Del_p.R739fs|MYBPC1_ENST00000361685.2_Frame_Shift_Del_p.R764fs|MYBPC1_ENST00000551300.1_Frame_Shift_Del_p.R640fs|MYBPC1_ENST00000361466.2_Frame_Shift_Del_p.R764fs|MYBPC1_ENST00000545503.2_Frame_Shift_Del_p.R739fs|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000550270.1_Frame_Shift_Del_p.R739fs|MYBPC1_ENST00000547509.1_Frame_Shift_Del_p.R725fs|MYBPC1_ENST00000441232.1_Frame_Shift_Del_p.R739fs|MYBPC1_ENST00000541119.1_Frame_Shift_Del_p.R727fs|MYBPC1_ENST00000536007.1_Frame_Shift_Del_p.R720fs|MYBPC1_ENST00000452455.2_Frame_Shift_Del_p.R739fs|MYBPC1_ENST00000392934.3_Frame_Shift_Del_p.R726fs Q00872 MYPC1_HUMAN myosin binding protein C, slow type 739 Fibronectin type-III 2. Y -> H (in Ref. 3; CAD38925). cell adhesion|muscle filament sliding cytosol|myofibril|myosin filament actin binding|structural constituent of muscle|titin binding breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 57 TGAGGTGGCGCCCCCCAGACC 0.438 7 630 --- --- --- --- C12orf42 374470 broad.mit.edu 37 12 103695960 103695960 + Frame_Shift_Del DEL G G - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr12:103695960delG ENST00000548048.1 - 9 1304 c.808delC c.(808-810)gcfs p.R270fs C12orf42_ENST00000378113.2_Frame_Shift_Del_p.R337fs|C12orf42_ENST00000548883.1_Frame_Shift_Del_p.R337fs|C12orf42_ENST00000315192.8_Intron Q96LP6 CL042_HUMAN chromosome 12 open reading frame 42 337 NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1) 22 CGGGTTGGGCGGGGGGGTGCT 0.587 9 733 --- --- --- --- CUX2 23316 broad.mit.edu 37 12 111758235 111758237 + In_Frame_Del DEL TCC TCC - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr12:111758235_111758237delTCC ENST00000261726.6 + 17 2576_2578 c.2422_2424delTCC c.(2422-2424)del p.S813del NM_015267.3 NP_056082.2 O14529 CUX2_HUMAN cut-like homeobox 2 813 Poly-Ser. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 GCCCTCGCTGTCCTCCTCCTCCT 0.749 7 454 --- --- --- --- GCN1L1 10985 broad.mit.edu 37 12 120595737 120595739 + In_Frame_Del DEL CTC CTC - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr12:120595737_120595739delCTC ENST00000300648.6 - 26 3013_3015 c.3001_3003delGAG c.(3001-3003)del p.E1001del NM_006836.1 NP_006827.1 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 1001 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GGGCCATCCACTCCTCCTCCTCC 0.631 8 426 --- --- --- --- DDX55 57696 broad.mit.edu 37 12 124103201 124103202 + Translation_Start_Site DEL TG TG - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr12:124103201_124103202delTG ENST00000421670.3 + 0 639_640 DDX55_ENST00000541259.1_Intron|DDX55_ENST00000238146.4_Intron|DDX55_ENST00000538744.1_Intron Q8NHQ9 DDX55_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 55 ATP binding|ATP-dependent helicase activity|RNA binding autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772) GAATGTGGTATGTGTGTGTGTG 0.520 OREG0022230 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 297 --- --- --- --- FZD10 11211 broad.mit.edu 37 12 130647981 130647982 + Frame_Shift_Ins INS - - C TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr12:130647981_130647982insC ENST00000539839.1 + 1 978_979 c.396_397insC c.(394-399)gtccgcfs p.R133fs FZD10_ENST00000229030.4_Frame_Shift_Ins_p.S165fs NM_007197.3 NP_009128.1 Q9ULW2 FZD10_HUMAN frizzled family receptor 10 574 FZ. brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development cell projection|cell surface|cytoplasm|integral to plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1) 35 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05) TCGGGCCTGTTCCCGCCGCTGT 0.723 9 534 --- --- --- --- PDS5B 23047 broad.mit.edu 37 13 33344888 33344888 + Frame_Shift_Del DEL A A - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr13:33344888delA ENST00000315596.10 + 33 4347 c.4161delA c.(4159-4161)ccfs p.P1387fs NM_015032.3 NP_055847.1 Q9NTI5 PDS5B_HUMAN PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) 1387 cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation chromatin|nucleus ATP binding|DNA binding|identical protein binding p.N1390fs*4(1) NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 62 Lung SC(185;0.0367) all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204) CATCACAACCAAAAAAAAATG 0.338 9 160 --- --- --- --- KBTBD7 84078 broad.mit.edu 37 13 41767432 41767434 + In_Frame_Del DEL CTG CTG - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr13:41767432_41767434delCTG ENST00000379483.3 - 1 1268_1270 c.960_962delCAG c.(958-963)agt>ag p.SS322del NM_032138.4 NP_115514.2 Q8WVZ9 KBTB7_HUMAN kelch repeat and BTB (POZ) domain containing 7 322 protein binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367) all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669) gctgctgctactgctgctgctgc 0.512 7 202 --- --- --- --- LRCH1 23143 broad.mit.edu 37 13 47243183 47243186 + Frame_Shift_Del DEL CCTG CCTG - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr13:47243183_47243186delCCTG ENST00000311191.6 + 3 700_703 c.471_474delCCTG c.(469-474)gcfs p.AL157fs LRCH1_ENST00000389797.3_Frame_Shift_Del_p.AL157fs|LRCH1_ENST00000389798.3_Frame_Shift_Del_p.AL157fs NM_001164213.1 NP_001157685.1 Q9Y2L9 LRCH1_HUMAN leucine-rich repeats and calponin homology (CH) domain containing 1 157 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000123) AGCTGTCCGCCCTGCCTGCCTGCC 0.436 9 1027 --- --- --- --- DIAPH3 81624 broad.mit.edu 37 13 60582733 60582734 + Frame_Shift_Ins INS - - T TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr13:60582733_60582734insT ENST00000400324.4 - 9 1178_1179 c.958_959insA c.(958-960)tgafs p.*320fs DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400319.1_Frame_Shift_Ins_p.*250fs|DIAPH3_ENST00000377908.2_Frame_Shift_Ins_p.*309fs|DIAPH3_ENST00000400330.1_Frame_Shift_Ins_p.*320fs|DIAPH3_ENST00000267215.4_Frame_Shift_Ins_p.*320fs|DIAPH3_ENST00000400320.1_Frame_Shift_Ins_p.*274fs NM_001042517.1|NM_001258366.1 NP_001035982.1|NP_001245295.1 Q9NSV4 DIAP3_HUMAN diaphanous-related formin 3 320 GBD/FH3. actin cytoskeleton organization actin binding|Rho GTPase binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) AAATCTGTCAATTTTTTTTTCT 0.322 10 864 --- --- --- --- FAM155A 728215 broad.mit.edu 37 13 108518337 108518338 + Frame_Shift_Ins INS - - C TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr13:108518337_108518338insC ENST00000375915.2 - 1 745_746 c.607_608insG c.(607-609)cggfs p.R203fs NM_001080396.2 NP_001073865.1 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 203 integral to membrane binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 CTCCTGCCCGTCCCCCCCGGCC 0.609 12 1028 --- --- --- --- CHD8 57680 broad.mit.edu 37 14 21884031 21884031 + Frame_Shift_Del DEL T T - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr14:21884031delT ENST00000399982.2 - 5 1816 c.1752delA c.(1750-1752)aafs p.K584fs CHD8_ENST00000557364.1_Frame_Shift_Del_p.K584fs|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Frame_Shift_Del_p.K305fs NM_001170629.1 NP_001164100.1 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 584 ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 85 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) CCTCTGTATATTTTTTTCGCT 0.398 7 1239 --- --- --- --- TRAC 0 broad.mit.edu 37 14 23020942 23020942 + RNA DEL T T - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr14:23020942delT ENST00000478163.3 + 0 819 GAGGGGTTTATTTTTTTTTAA 0.468 9 302 --- --- --- --- LRP10 26020 broad.mit.edu 37 14 23341527 23341529 + In_Frame_Del DEL CCT CCT - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr14:23341527_23341529delCCT ENST00000359591.4 + 1 706_708 c.15_17delCCT c.(13-18)acc>ac p.TL5del LRP10_ENST00000546834.1_In_Frame_Del_p.TL5del NM_014045.3 NP_054764.2 Q7Z4F1 LRP10_HUMAN low density lipoprotein receptor-related protein 10 5 endocytosis coated pit|integral to membrane central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2) 32 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.00549) TGTTGGCCACCCTCCTCCTCCTC 0.670 14 755 --- --- --- --- IL25 0 broad.mit.edu 37 14 23845057 23845058 + Frame_Shift_Del DEL TG TG - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr14:23845057_23845058delTG ENST00000329715.2 + 2 760_761 c.502_503delTG c.(502-504)tfs p.C168fs IL25_ENST00000397242.2_Frame_Shift_Del_p.C152fs NM_022789.3 NP_073626.1 Q9H293 IL25_HUMAN interleukin 25 168 inflammatory response extracellular space|membrane cytokine activity|interleukin-17E receptor binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 9 all_cancers(95;2e-05) GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396) TTCCTTAGCTTGTGTGTGTGTG 0.604 9 1022 --- --- --- --- IRF9 10379 broad.mit.edu 37 14 24633132 24633134 + In_Frame_Del DEL AGC AGC - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr14:24633132_24633134delAGC ENST00000396864.3 + 5 828_830 c.541_543delAGC c.(541-543)del p.S187del IRF9_ENST00000557894.1_In_Frame_Del_p.S85del|RP11-468E2.4_ENST00000558468.1_3'UTR NM_006084.4 NP_006075.3 Q00978 IRF9_HUMAN interferon regulatory factor 9 187 Poly-Ser. interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytosol|nucleoplasm DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2) 16 GBM - Glioblastoma multiforme(265;0.00853) AGACATTGGGagcagcagcagca 0.567 10 506 --- --- --- --- SCFD1 23256 broad.mit.edu 37 14 31091566 31091567 + In_Frame_Ins INS - - CAG TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr14:31091566_31091567insCAG ENST00000458591.2 + 1 249_250 c.22_23insCAG c.(22-24)agc>CAGagc p.7_8insQ SCFD1_ENST00000541123.1_5'UTR|SCFD1_ENST00000421551.3_5'UTR|SCFD1_ENST00000396629.2_5'UTR|SCFD1_ENST00000544052.2_5'UTR NM_016106.3 NP_057190.2 Q8WVM8 SCFD1_HUMAN sec1 family domain containing 1 7 Poly-Ala. post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane syntaxin-5 binding endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1) 13 Hepatocellular(127;0.0877) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119) GBM - Glioblastoma multiforme(265;0.0181) ggcggcagcgacagcagcagca 0.639 17 31 --- --- --- --- PCNX 22990 broad.mit.edu 37 14 71444749 71444749 + Frame_Shift_Del DEL A A - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr14:71444749delA ENST00000304743.2 + 6 2141 c.1695delA c.(1693-1695)ggfs p.G565fs PCNX_ENST00000439984.3_Frame_Shift_Del_p.G565fs|PCNX_ENST00000238570.5_Frame_Shift_Del_p.G565fs NM_014982.2 NP_055797.2 Q96RV3 PCX1_HUMAN pecanex homolog (Drosophila) 565 integral to membrane NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1) 87 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) GACGCACAGGAAAAAAACGGG 0.473 7 978 --- --- --- --- SIPA1L1 26037 broad.mit.edu 37 14 72190482 72190484 + In_Frame_Del DEL TCC TCC - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr14:72190482_72190484delTCC ENST00000555818.1 + 16 4738_4740 c.4390_4392delTCC c.(4390-4392)del p.S1468del SIPA1L1_ENST00000537413.1_In_Frame_Del_p.S922del|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000358550.2_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000381232.3_In_Frame_Del_p.S1447del NM_015556.1 NP_056371.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 1468 Ser-rich. actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) ctcctcctcttcctcctcctcct 0.552 13 856 --- --- --- --- RBM25 58517 broad.mit.edu 37 14 73572607 73572608 + Frame_Shift_Del DEL AG AG - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr14:73572607_73572608delAG ENST00000261973.7 + 11 1480_1481 c.1195_1196delAG c.(1195-1197)afs p.R399fs RBM25_ENST00000527432.1_Frame_Shift_Del_p.R399fs NM_021239.2 NP_067062.1 P49756 RBM25_HUMAN RNA binding motif protein 25 399 Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization. apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing cytoplasm|nuclear speck mRNA binding|nucleotide binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1) 31 BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688) agagcgggaaagagagagagag 0.446 17 204 --- --- --- --- GPR65 0 broad.mit.edu 37 14 88477554 88477555 + Frame_Shift_Ins INS - - T TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr14:88477554_88477555insT ENST00000267549.3 + 2 921_922 c.363_364insT c.(361-366)aattttfs p.NF121fs RP11-300J18.2_ENST00000554433.1_RNA NM_003608.3 NP_003599.2 Q8IYL9 PSYR_HUMAN G protein-coupled receptor 65 121 actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity integral to plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1) 16 ACCCTTTGAAGTTTTTTTTCCT 0.426 8 1114 --- --- --- --- CHGA 1113 broad.mit.edu 37 14 93397924 93397926 + In_Frame_Del DEL GAG GAG - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr14:93397924_93397926delGAG ENST00000216492.5 + 6 965_967 c.685_687delGAG c.(685-687)del p.E236del CHGA_ENST00000334654.4_Intron|CHGA_ENST00000553866.1_3'UTR NM_001275.3 NP_001266.1 P10645 CMGA_HUMAN chromogranin A (parathyroid secretory protein 1) 236 regulation of blood pressure extracellular region|stored secretory granule cervix(1)|large_intestine(1)|lung(3)|skin(3) 8 all_cancers(154;0.0843) Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224) AAAGAGAgaagaggaggaggagg 0.645 11 242 --- --- --- --- SYNE3 161176 broad.mit.edu 37 14 95921888 95921890 + In_Frame_Del DEL CTC CTC - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr14:95921888_95921890delCTC ENST00000334258.5 - 5 975_977 c.961_963delGAG c.(961-963)del p.E321del SYNE3_ENST00000554873.1_In_Frame_Del_p.E78del|SYNE3_ENST00000557275.1_In_Frame_Del_p.E321del|SYNE3_ENST00000553340.1_In_Frame_Del_p.E321del NM_152592.3 NP_689805.3 spectrin repeat containing, nuclear envelope family member 3 breast(1)|endometrium(2)|lung(25) 28 CCCGCAGCCGCTCCTCCTCCTCC 0.616 8 849 --- --- --- --- YY1 7528 broad.mit.edu 37 14 100705708 100705710 + In_Frame_Del DEL GAG GAG - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr14:100705708_100705710delGAG ENST00000262238.4 + 1 387_389 c.127_129delGAG c.(127-129)del p.E47del NM_003403.3 NP_003394.1 P25490 TYY1_HUMAN YY1 transcription factor 47 Asp/Glu-rich (acidic). cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis Ino80 complex|nuclear matrix|plasma membrane four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding p.E43delE(1) cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1) 11 Melanoma(154;0.152) AGTggtgggcgaggaggaggagg 0.719 7 115 --- --- --- --- INF2 64423 broad.mit.edu 37 14 105174270 105174271 + Frame_Shift_Ins INS - - G TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr14:105174270_105174271insG ENST00000392634.4 + 8 1778_1779 c.1666_1667insG c.(1666-1668)ggtfs p.G556fs INF2_ENST00000330634.7_Frame_Shift_Ins_p.G556fs NM_022489.3 NP_071934.3 Q27J81 INF2_HUMAN inverted formin, FH2 and WH2 domain containing 556 FH2. actin cytoskeleton organization endoplasmic reticulum|nucleus|perinuclear region of cytoplasm actin binding|Rho GTPase binding large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.176) CAGCCATCGGCGGGTGAACCCA 0.663 11 421 --- --- --- --- ULK4P2 0 broad.mit.edu 37 15 30875050 30875051 + RNA DEL TC TC - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr15:30875050_30875051delTC ENST00000569682.1 + 0 173 GAGACAGATATCCATCTTTAAA 0.292 8 121 --- --- --- --- FAN1 22909 broad.mit.edu 37 15 31196894 31196894 + Frame_Shift_Del DEL A A - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr15:31196894delA ENST00000362065.4 + 2 319 c.28delA c.(28-30)aafs p.K11fs FAN1_ENST00000561594.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000561607.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000565466.1_Frame_Shift_Del_p.K11fs NM_014967.4 NP_055782.3 Q9Y2M0 FAN1_HUMAN FANCD2/FANCI-associated nuclease 1 11 double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision nucleus 5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1) 29 ACCTCCTGACAAAAAAAGGCC 0.353 Direct reversal of damage 7 839 --- --- --- --- EIF3J 8669 broad.mit.edu 37 15 44829395 44829397 + Translation_Start_Site DEL GGC GGC - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr15:44829395_44829397delGGC ENST00000261868.5 + 0 141_143 EIF3J_ENST00000535391.1_Start_Codon_Del|EIF3J_ENST00000424492.3_Start_Codon_Del NM_003758.2 NP_003749.2 O75822 EIF3J_HUMAN eukaryotic translation initiation factor 3, subunit J cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity endometrium(1)|large_intestine(5)|liver(2)|skin(1) 9 all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122) all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758) GGCTCGAGATggcggcggcggcg 0.719 7 181 --- --- --- --- SECISBP2L 9728 broad.mit.edu 37 15 49309051 49309051 + Frame_Shift_Del DEL T T - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr15:49309051delT ENST00000559471.1 - 10 1676 c.1413delA c.(1411-1413)aafs p.K471fs SECISBP2L_ENST00000261847.3_Frame_Shift_Del_p.K426fs NM_001193489.1 NP_001180418.1 Q93073 SBP2L_HUMAN SECIS binding protein 2-like 471 breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1) 46 GTACCTGTAATTTTTTTTGCT 0.353 7 297 --- --- --- --- SLTM 79811 broad.mit.edu 37 15 59182525 59182526 + Frame_Shift_Del DEL TC TC - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr15:59182525_59182526delTC ENST00000380516.2 - 15 2120_2121 c.2033_2034delGA c.(2032-2034)afs p.R678fs SLTM_ENST00000536328.1_Frame_Shift_Del_p.R247fs|AC025918.2_ENST00000452467.1_RNA NM_001013843.1|NM_024755.2 NP_001013865.1|NP_079031.2 Q9NWH9 SLTM_HUMAN SAFB-like, transcription modulator 678 Arg/Glu-rich. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 CGCGTTCCATTCTCTCTCTCTC 0.431 12 955 --- --- --- --- THSD4 79875 broad.mit.edu 37 15 72021022 72021022 + Frame_Shift_Del DEL T T - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr15:72021022delT ENST00000355327.3 + 9 1626 c.1492delT c.(1492-1494)ttfs p.F498fs THSD4_ENST00000357769.4_Frame_Shift_Del_p.F138fs|THSD4_ENST00000261862.6_Frame_Shift_Del_p.F498fs|THSD4_ENST00000567838.1_3'UTR Q6ZMP0 THSD4_HUMAN thrombospondin, type I, domain containing 4 498 proteinaceous extracellular matrix metalloendopeptidase activity breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 CGGAGAGTCCTTTTTGGCGGA 0.483 7 1342 --- --- --- --- Z97634.5 0 broad.mit.edu 37 16 437259 437260 + RNA DEL AT AT - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr16:437259_437260delAT ENST00000412293.1 + 0 521 NR_024453.2 CTAATTCTAAATATATATATAT 0.421 11 144 --- --- --- --- RP11-420N3.2 0 broad.mit.edu 37 16 5313074 5313076 + RNA DEL GGT GGT - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr16:5313074_5313076delGGT ENST00000569895.1 + 0 304 GCAGggtgacggtggtggtggtg 0.483 11 348 --- --- --- --- KIAA0430 9665 broad.mit.edu 37 16 15729982 15729984 + In_Frame_Del DEL CCA CCA - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr16:15729982_15729984delCCA ENST00000396368.3 - 3 566_568 c.360_362delTGG c.(358-363)ggc>gg p.GG120del KIAA0430_ENST00000602337.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000551742.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000548025.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000540441.2_In_Frame_Del_p.GG120del|KIAA0430_ENST00000344181.3_5'UTR NM_001184998.1|NM_001184999.1|NM_014647.3 NP_001171927.1|NP_001171928.1|NP_055462.2 Q9Y4F3 LKAP_HUMAN KIAA0430 119 Poly-Gly. peroxisome nucleotide binding|RNA binding breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1) 40 TCCGCTACCGCCACCACCACCAC 0.532 9 881 --- --- --- --- TMC7 79905 broad.mit.edu 37 16 19058506 19058506 + Frame_Shift_Del DEL T T - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr16:19058506delT ENST00000421369.3 + 12 1903 c.1345delT c.(1345-1347)ttfs p.F450fs TMC7_ENST00000304381.5_Frame_Shift_Del_p.F560fs|TMC7_ENST00000569532.1_Frame_Shift_Del_p.F560fs NM_001160364.1 NP_001153836.1 Q7Z402 TMC7_HUMAN transmembrane channel-like 7 560 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 28 GATCGGAGCCTTTTTCTCACC 0.502 7 2911 --- --- --- --- IL4R 3566 broad.mit.edu 37 16 27373787 27373789 + In_Frame_Del DEL GAG GAG - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr16:27373787_27373789delGAG ENST00000395762.2 + 11 1373_1375 c.1114_1116delGAG c.(1114-1116)del p.E376del IL4R_ENST00000170630.2_In_Frame_Del_p.E376del|IL4R_ENST00000565915.1_3'UTR|IL4R_ENST00000380922.3_In_Frame_Del_p.E361del|IL4R_ENST00000543915.2_In_Frame_Del_p.E376del NM_000418.3 NP_000409.1 P24394 IL4RA_HUMAN interleukin 4 receptor 376 Poly-Glu. immune response|production of molecular mediator involved in inflammatory response integral to plasma membrane identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 33 GGTGGAGTGTGAGGAGGAGGAGG 0.591 8 427 --- --- --- --- SRCAP 10847 broad.mit.edu 37 16 30731611 30731611 + Frame_Shift_Del DEL C C - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr16:30731611delC ENST00000262518.4 + 19 3331 c.2946delC c.(2944-2946)gafs p.D982fs SRCAP_ENST00000344771.4_Frame_Shift_Del_p.D982fs|SRCAP_ENST00000395059.2_Frame_Shift_Del_p.D982fs NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 982 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) CTGCTCCTGACCCCCCACCCC 0.567 7 1686 --- --- --- --- SETD1A 9739 broad.mit.edu 37 16 30982809 30982811 + In_Frame_Del DEL TCC TCC - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr16:30982809_30982811delTCC ENST00000262519.8 + 13 3813_3815 c.3127_3129delTCC c.(3127-3129)del p.S1058del NM_014712.1 NP_055527.1 O15047 SET1A_HUMAN SET domain containing 1A 1058 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 59 CAGctcctcatcctcctcctcct 0.547 10 533 --- --- --- --- RP11-23E10.4 0 broad.mit.edu 37 16 33365420 33365420 + RNA DEL A A - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr16:33365420delA ENST00000568520.1 - 0 249 TACAAACTATAAAAAAACAGA 0.358 8 77 --- --- --- --- IRX6 79190 broad.mit.edu 37 16 55362674 55362676 + In_Frame_Del DEL GAG GAG - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr16:55362674_55362676delGAG ENST00000290552.7 + 5 2116_2118 c.784_786delGAG c.(784-786)del p.E268del RP11-26L20.3_ENST00000558730.2_RNA NM_024335.2 NP_077311.2 P78412 IRX6_HUMAN iroquois homeobox 6 268 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 CCTggaggaagaggaggaggagg 0.626 16 446 --- --- --- --- CCDC135 84229 broad.mit.edu 37 16 57731885 57731887 + In_Frame_Del DEL GGA GGA - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr16:57731885_57731887delGGA ENST00000360716.3 + 3 245_247 c.24_26delGGA c.(22-27)gtg>gt p.VE8del RP11-405F3.4_ENST00000563062.1_RNA|CCDC135_ENST00000336825.8_In_Frame_Del_p.VE8del|CCDC135_ENST00000394337.4_In_Frame_Del_p.VE8del Q8IY82 CC135_HUMAN coiled-coil domain containing 135 8 cytoplasm breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 30 Gggagaaggtggaggaggaggag 0.591 9 660 --- --- --- --- RP11-51O6.1 0 broad.mit.edu 37 16 61089303 61089303 + RNA DEL T T - rs80101907 TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr16:61089303delT ENST00000591758.1 - 0 565 Cttcttcttcttttttttttt 0.244 16 119 --- --- --- --- KCTD19 146212 broad.mit.edu 37 16 67327780 67327781 + Frame_Shift_Ins INS - - G TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr16:67327780_67327781insG ENST00000304372.5 - 12 1939_1940 c.1884_1885insC c.(1882-1887)ccccacfs p.H629fs NM_001100915.1 NP_001094385.1 Q17RG1 KCD19_HUMAN potassium channel tetramerization domain containing 19 629 voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3) 23 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906) ATGGGAGTGGCGGGAGGGTCTT 0.540 14 1522 --- --- --- --- NFAT5 10725 broad.mit.edu 37 16 69726420 69726422 + In_Frame_Del DEL CAG CAG - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr16:69726420_69726422delCAG ENST00000349945.1 + 14 3962_3964 c.2410_2412delCAG c.(2410-2412)del p.Q812del NFAT5_ENST00000566899.1_In_Frame_Del_p.Q812del|NFAT5_ENST00000354436.2_In_Frame_Del_p.Q888del|NFAT5_ENST00000432919.1_In_Frame_Del_p.Q906del|NFAT5_ENST00000393742.2_In_Frame_Del_p.Q812del|NFAT5_ENST00000567239.1_In_Frame_Del_p.Q905del NM_138714.3 NP_619728.2 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5, tonicity-responsive 888 excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.Q804Q(1)|p.Q898Q(1) NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 ATCTAATcaacagcagcagcagc 0.473 7 323 --- --- --- --- NOB1 28987 broad.mit.edu 37 16 69782978 69782980 + In_Frame_Del DEL TCC TCC - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr16:69782978_69782980delTCC ENST00000268802.5 - 6 596_598 c.567_569delGGA c.(565-570)gaa>ga p.EE189del NM_014062.1 NP_054781.1 Q9ULX3 NOB1_HUMAN NIN1/RPN12 binding protein 1 homolog (S. cerevisiae) 189 Poly-Glu. nucleus metal ion binding|protein binding breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 CCCGTTTTCTTCCTCCTCCTCCT 0.522 13 592 --- --- --- --- AP1G1 164 broad.mit.edu 37 16 71803440 71803440 + Splice_Site DEL A A - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr16:71803440delA ENST00000423132.2 - 7 921 c.e7-1 AP1G1_ENST00000299980.4_Intron|AP1G1_ENST00000393512.3_Intron|AP1G1_ENST00000433195.2_Intron|AP1G1_ENST00000569748.1_Intron O43747 AP1G1_HUMAN adaptor-related protein complex 1, gamma 1 subunit endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome kinesin binding|protein transporter activity breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1) 28 Ovarian(137;0.125) GCTTGCTTTCAAAAAAAAATA 0.378 8 168 --- --- --- --- ZFHX3 463 broad.mit.edu 37 16 72991713 72991715 + In_Frame_Del DEL CCA CCA - rs4788682 by1000genomes TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr16:72991713_72991715delCCA ENST00000268489.5 - 2 3002_3004 c.2330_2332delTGG c.(2329-2334)gct>g p.VA777del ZFHX3_ENST00000397992.5_Intron NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 777 Poly-Ala. V -> A (in dbSNP:rs4788682). muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.V777V(1) NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) gccgccgcagccaccgccgccgc 0.635 7 594 --- --- --- --- WDR59 79726 broad.mit.edu 37 16 74949826 74949827 + In_Frame_Ins INS - - GAG TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr16:74949826_74949827insGAG ENST00000262144.6 - 13 1295_1296 c.1165_1166insCTC c.(1165-1167)gac>CTCgac p.388_389insL NM_030581.3 NP_085058.3 Q6PJI9 WDR59_HUMAN WD repeat domain 59 388 breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1) 27 CTGCAAGGTCTGAGGCAGCCCC 0.450 26 463 --- --- --- --- SPG7 6687 broad.mit.edu 37 16 89613072 89613073 + Frame_Shift_Ins INS - - G rs111475461 byFrequency TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr16:89613072_89613073insG ENST00000268704.2 + 11 1471_1472 c.1456_1457insG c.(1456-1458)ggafs p.G486fs NM_003119.2 NP_003110.1 Q9UQ90 SPG7_HUMAN spastic paraplegia 7 (pure and complicated autosomal recessive) 486 R -> Q. cell death|nervous system development|protein catabolic process|proteolysis integral to membrane|mitochondrial membrane ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1) 20 all_hematologic(23;0.00824)|Colorectal(91;0.102) all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015) GCAGGAGAGGCGGGAGATTTTT 0.594 29 1097 --- --- --- --- C17orf85 55421 broad.mit.edu 37 17 3721809 3721811 + In_Frame_Del DEL TCC TCC - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr17:3721809_3721811delTCC ENST00000158149.3 - 11 1111_1113 c.216_218delGGA c.(214-219)gaa>ga p.EE78del C17orf85_ENST00000389005.4_In_Frame_Del_p.EE358del Q53F19 CQ085_HUMAN chromosome 17 open reading frame 85 358 nucleotide binding endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1) 10 UCEC - Uterine corpus endometrioid carcinoma (3;0.0725) ctcttcctcttcctcctcctcct 0.507 10 640 --- --- --- --- CAMTA2 23125 broad.mit.edu 37 17 4875737 4875738 + Frame_Shift_Ins INS - - G rs145218609 TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr17:4875737_4875738insG ENST00000361571.5 - 15 3005_3006 c.2594_2595insC c.(2593-2595)cgcfs p.R865fs CAMTA2_ENST00000348066.3_Frame_Shift_Ins_p.R866fs|CAMTA2_ENST00000358183.4_Frame_Shift_Ins_p.R866fs|CAMTA2_ENST00000572543.1_Frame_Shift_Ins_p.R871fs|CAMTA2_ENST00000414043.3_Frame_Shift_Ins_p.R889fs|CAMTA2_ENST00000381311.5_Frame_Shift_Ins_p.R868fs NM_001171168.1 NP_001164639.1 O94983 CMTA2_HUMAN calmodulin binding transcription activator 2 866 cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 GCAGAGGTGCAGGGGGGGGACT 0.614 12 163 --- --- --- --- WRAP53 55135 broad.mit.edu 37 17 7606714 7606715 + Frame_Shift_Ins INS - - G rs146634933 TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr17:7606714_7606715insG ENST00000316024.5 + 10 3905_3906 c.1557_1558insG c.(1555-1560)tgggggfs p.WG519fs WRAP53_ENST00000431639.2_Frame_Shift_Ins_p.WG519fs|WRAP53_ENST00000457584.2_Frame_Shift_Ins_p.WG519fs|WRAP53_ENST00000534050.1_Frame_Shift_Ins_p.WG486fs|WRAP53_ENST00000396463.2_Frame_Shift_Ins_p.WG519fs Q9BUR4 WAP53_HUMAN WD repeat containing, antisense to TP53 519 positive regulation of telomerase activity|telomere formation via telomerase Cajal body|cytoplasm|telomerase holoenzyme complex protein binding|RNA binding endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2) 18 TCTGGTGGTGTGGGGGGGCGCC 0.599 12 410 --- --- --- --- CHD3 1107 broad.mit.edu 37 17 7801857 7801859 + In_Frame_Del DEL AAG AAG - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr17:7801857_7801859delAAG ENST00000380358.4 + 13 2273_2275 c.2272_2274delAAG c.(2272-2274)del p.K762del CHD3_ENST00000330494.7_In_Frame_Del_p.K703del|CHD3_ENST00000358181.4_In_Frame_Del_p.K703del NM_001005271.2 NP_001005271.2 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 703 Helicase ATP-binding. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) CCGCAAGTATAAGAAGAAGAAGA 0.488 8 392 --- --- --- --- CNTROB 116840 broad.mit.edu 37 17 7843518 7843519 + Frame_Shift_Del DEL GA GA - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr17:7843518_7843519delGA ENST00000380262.3 + 9 2194_2195 c.1269_1270delGA c.(1267-1272)cggafs p.RR423fs CNTROB_ENST00000563694.1_Frame_Shift_Del_p.RR423fs|CNTROB_ENST00000380255.3_Frame_Shift_Del_p.RR423fs|CNTROB_ENST00000565740.1_Frame_Shift_Del_p.RR423fs NM_001037144.5 NP_001032221.1 Q8N137 CNTRB_HUMAN centrobin, centrosomal BRCA2 interacting protein 423 Required for centrosome localization. centriole replication|centrosome separation|cytokinesis centriole protein domain specific binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9) 25 Prostate(122;0.173) ATACAGCTCGGAGAGAGAGAGA 0.579 9 788 --- --- --- --- ARHGEF15 22899 broad.mit.edu 37 17 8224297 8224298 + Frame_Shift_Ins INS - - C TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr17:8224297_8224298insC ENST00000361926.3 + 16 2622_2623 c.2512_2513insC c.(2512-2514)cccfs p.P838fs ARHGEF15_ENST00000421050.1_Frame_Shift_Ins_p.P838fs NM_173728.3 NP_776089.2 O94989 ARHGF_HUMAN Rho guanine nucleotide exchange factor (GEF) 15 838 negative regulation of synapse maturation|regulation of Rho protein signal transduction dendrite|intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1) 37 CACCCCCAATGCCCCCCCACCC 0.574 7 545 --- --- --- --- MYH10 4628 broad.mit.edu 37 17 8397095 8397097 + In_Frame_Del DEL CCT CCT - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr17:8397095_8397097delCCT ENST00000360416.3 - 32 4301_4303 c.4163_4165delAGG c.(4162-4167)gcc>g p.EA1388del MYH10_ENST00000269243.4_In_Frame_Del_p.EA1357del|MYH10_ENST00000396239.1_In_Frame_Del_p.EA1378del|MYH10_ENST00000379980.4_In_Frame_Del_p.EA1373del NM_001256012.1 NP_001242941.1 P35580 MYH10_HUMAN myosin, heavy chain 10, non-muscle 1357 actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 TTCTTCCTGGCCTCCTCCTCCTC 0.596 8 345 --- --- --- --- MED9 55090 broad.mit.edu 37 17 17394705 17394707 + In_Frame_Del DEL CAG CAG - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr17:17394705_17394707delCAG ENST00000268711.3 + 2 393_395 c.337_339delCAG c.(337-339)del p.Q117del NM_018019.2 NP_060489.1 Q9NWA0 MED9_HUMAN mediator complex subunit 9 117 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent protein binding cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 7 GAGCCCCGAACAGCAGCAGCAGC 0.581 10 777 --- --- --- --- RAI1 10743 broad.mit.edu 37 17 17699993 17699995 + In_Frame_Del DEL GCA GCA - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr17:17699993_17699995delGCA ENST00000353383.1 + 3 4200_4202 c.3731_3733delGCA c.(3730-3735)cgc>c p.RS1244del RAI1_ENST00000261641.6_In_Frame_Del_p.RS1244del NM_030665.3 NP_109590.3 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 1244 Poly-Ser. cytoplasm|nucleus zinc ion binding breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7) 48 READ - Rectum adenocarcinoma(1115;0.0276) TTGCGGAGCCGCAGCAGCAGCAG 0.626 7 357 --- --- --- --- KIAA0100 9703 broad.mit.edu 37 17 26971123 26971123 + Frame_Shift_Del DEL A A - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr17:26971123delA ENST00000528896.2 - 2 225 c.151delT c.(151-153)ggfs p.W51fs KIAA0100_ENST00000544884.1_5'UTR|KIAA0100_ENST00000389003.3_5'UTR NM_014680.3 NP_055495.2 Q14667 K0100_HUMAN KIAA0100 51 extracellular region breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3) 68 Lung NSC(42;0.00431) TTCTGGATCCAAAAAAAGCGG 0.478 OREG0024280 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 796 --- --- --- --- SUPT6H 6830 broad.mit.edu 37 17 27001303 27001305 + In_Frame_Del DEL GAG GAG - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr17:27001303_27001305delGAG ENST00000314616.6 + 3 395_397 c.112_114delGAG c.(112-114)del p.E43del SUPT6H_ENST00000347486.4_In_Frame_Del_p.E43del NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 43 Asp/Glu-rich. chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) TCTTCCAGATGAGGAGGAGGAGG 0.453 7 291 --- --- --- --- SUPT6H 6830 broad.mit.edu 37 17 27027202 27027204 + In_Frame_Del DEL AGC AGC - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr17:27027202_27027204delAGC ENST00000314616.6 + 34 4856_4858 c.4573_4575delAGC c.(4573-4575)del p.S1528del SUPT6H_ENST00000347486.4_In_Frame_Del_p.S1528del NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 1528 Poly-Ser. chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) CATCACCCCTAGCAGCAGCAGCA 0.537 11 1559 --- --- --- --- NUFIP2 57532 broad.mit.edu 37 17 27620990 27620992 + In_Frame_Del DEL GCT GCT - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr17:27620990_27620992delGCT ENST00000225388.4 - 1 144_146 c.86_88delAGC c.(85-90)ccg>c p.QP29del NUFIP2_ENST00000579665.1_In_Frame_Del_p.QP29del NM_020772.2 NP_065823.1 Q7Z417 NUFP2_HUMAN nuclear fragile X mental retardation protein interacting protein 2 29 His-rich. nucleus|polysomal ribosome protein binding|RNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1) 24 BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551) tggtggtgcggctgctgctgctg 0.591 10 411 --- --- --- --- SUZ12P 0 broad.mit.edu 37 17 29096087 29096087 + RNA DEL T T - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr17:29096087delT ENST00000582557.1 + 0 1381 ATATTGGTAATTTTTTTTTTT 0.343 11 112 --- --- --- --- GAS2L2 246176 broad.mit.edu 37 17 34071994 34071996 + In_Frame_Del DEL TCC TCC - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr17:34071994_34071996delTCC ENST00000254466.6 - 6 2547_2549 c.2520_2522delGGA c.(2518-2523)gaa>ga p.EE840del GAS2L2_ENST00000587565.1_In_Frame_Del_p.EE824del NM_139285.3 NP_644814.1 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 840 cell cycle arrest cytoplasm|cytoskeleton central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) ctcctttccttcctcctcctcct 0.616 14 370 --- --- --- --- KRT10 3858 broad.mit.edu 37 17 38978766 38978768 + In_Frame_Del DEL TCC TCC - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr17:38978766_38978768delTCC ENST00000269576.5 - 1 79_81 c.70_72delGGA c.(70-72)del p.G24del TMEM99_ENST00000301665.3_Intron|TMEM99_ENST00000496847.1_Intron NM_000421.3 NP_000412.3 P13645 K1C10_HUMAN keratin 10 24 Gly-rich.|Head. Missing (in Ref. 1; AAA60544). epidermis development protein binding|structural constituent of epidermis NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1) 11 Breast(137;0.000301) ctcctccacatcctcctcctcct 0.547 13 239 --- --- --- --- COIL 8161 broad.mit.edu 37 17 55028016 55028016 + Frame_Shift_Del DEL T T - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr17:55028016delT ENST00000240316.4 - 2 621 c.587delA c.(586-588)agfs p.K196fs NM_004645.2 NP_004636.1 P38432 COIL_HUMAN coilin 196 Lys-rich (basic). Cajal body|nucleolus protein C-terminus binding NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1) 15 Breast(9;6.15e-08) ATTCTTAGCCTTTTTTTTATA 0.393 9 629 --- --- --- --- RNF43 54894 broad.mit.edu 37 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr17:56435161delC ENST00000584437.1 - 8 3931 c.1976delG c.(1975-1977)gtfs p.G659fs RNF43_ENST00000577625.1_Frame_Shift_Del_p.G532fs|RNF43_ENST00000407977.2_Frame_Shift_Del_p.G659fs|RNF43_ENST00000583753.1_Frame_Shift_Del_p.G618fs|RNF43_ENST00000581868.1_Frame_Shift_Del_p.G532fs|RNF43_ENST00000577716.1_Frame_Shift_Del_p.G659fs|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000500597.2_Frame_Shift_Del_p.G618fs Q68DV7 RNF43_HUMAN ring finger protein 43 659 Pro-rich. endoplasmic reticulum membrane|integral to membrane|nuclear envelope ligase activity|protein binding|zinc ion binding p.G659fs*41(1) NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4) 60 Medulloblastoma(34;0.127)|all_neural(34;0.237) CTCGGAGGGACCCCCCCGCCT 0.602 7 963 --- --- --- --- FTSJ3 117246 broad.mit.edu 37 17 61899155 61899157 + In_Frame_Del DEL CTC CTC - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr17:61899155_61899157delCTC ENST00000427159.2 - 15 2167_2169 c.1522_1524delGAG c.(1522-1524)del p.E508del NM_017647.3 NP_060117.3 Q8IY81 RRMJ3_HUMAN FtsJ homolog 3 (E. coli) 508 RNA methylation|rRNA processing nucleolus methyltransferase activity|nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 27 GCAGTGGATTCTCCTCCTCCTCC 0.537 15 1893 --- --- --- --- DDX5 1655 broad.mit.edu 37 17 62496298 62496298 + Frame_Shift_Del DEL T T - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr17:62496298delT ENST00000225792.5 - 13 1989 c.1588delA c.(1588-1590)ctfs p.T530fs DDX5_ENST00000450599.2_Frame_Shift_Del_p.T451fs|DDX5_ENST00000578804.1_Frame_Shift_Del_p.T530fs|DDX5_ENST00000580026.1_5'UTR NM_004396.3 NP_004387.1 P17844 DDX5_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 5 530 cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nucleolus ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2) 19 Breast(5;2.15e-14) BRCA - Breast invasive adenocarcinoma(8;8.6e-12) CCATTCTGAGTTTTTGCCCCA 0.413 T ETV4 prostate 9 2680 --- --- --- --- LRRC37A16P 0 broad.mit.edu 37 17 66141017 66141018 + RNA INS - - A TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr17:66141017_66141018insA ENST00000590019.1 - 0 70 AAGATTTCTACAAAAAAAAAAA 0.327 24 218 --- --- --- --- LRRC37A16P 0 broad.mit.edu 37 17 66141032 66141032 + RNA DEL C C - rs76883902 by1000genomes TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr17:66141032delC ENST00000590019.1 - 0 70 AAAAAAAAAACATAAGCCAAA 0.338 10 194 --- --- --- --- CD300C 10871 broad.mit.edu 37 17 72541049 72541050 + Frame_Shift_Ins INS - - GC TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr17:72541049_72541050insGC ENST00000330793.1 - 2 458_459 c.98_99insGC c.(97-99)gccfs p.A33fs NM_006678.3 NP_006669.1 Q08708 CLM6_HUMAN CD300c molecule 33 Ig-like V-type. cellular defense response integral to plasma membrane transmembrane receptor activity endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1) 21 CCCCCACGGGGCCCGCCACGGT 0.564 15 548 --- --- --- --- RBBP8 5932 broad.mit.edu 37 18 20572852 20572853 + Frame_Shift_Ins INS - - A TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr18:20572852_20572853insA ENST00000399722.2 + 11 1413_1414 c.1062_1063insA c.(1060-1065)ggaaaafs p.GK354fs RBBP8_ENST00000399725.2_Frame_Shift_Ins_p.GK354fs|RBBP8_ENST00000360790.5_Frame_Shift_Ins_p.GK354fs|RBBP8_ENST00000327155.5_Frame_Shift_Ins_p.GK354fs NM_203291.1 NP_976036.1 Q99708 COM1_HUMAN retinoblastoma binding protein 8 354 cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter nucleus damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity p.K357fs*3(2)|p.K355E(2)|p.G354G(2) central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1) 24 all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19) OV - Ovarian serous cystadenocarcinoma(1;0.00196) TACAGCCTGGGAAAAAAAAACA 0.361 Homologous recombination 17 646 --- --- --- --- WBP11P1 0 broad.mit.edu 37 18 30091782 30091782 + RNA DEL T T - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr18:30091782delT ENST00000567636.1 + 0 157 NR_003558.1 tttctttttctttttttttAA 0.418 9 268 --- --- --- --- MBD3 53615 broad.mit.edu 37 19 1578372 1578374 + In_Frame_Del DEL CTC CTC - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr19:1578372_1578374delCTC ENST00000590550.2 - 5 1046_1048 c.673_675delGAG c.(673-675)del p.E225del MBD3_ENST00000156825.1_In_Frame_Del_p.E281del|MBD3_ENST00000434436.3_In_Frame_Del_p.E281del|MBD3_ENST00000592012.1_In_Frame_Del_p.E249del O95983 MBD3_HUMAN methyl-CpG binding domain protein 3 281 transcription, DNA-dependent NuRD complex DNA binding|protein binding central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 8 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18) CCGGGTCGGGctcctcctcctcc 0.714 9 212 --- --- --- --- DNMT1 1786 broad.mit.edu 37 19 10262139 10262139 + Frame_Shift_Del DEL T T - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr19:10262139delT ENST00000340748.4 - 23 2387 c.2152delA c.(2152-2154)tgfs p.M718fs DNMT1_ENST00000359526.4_Frame_Shift_Del_p.M734fs|DNMT1_ENST00000540357.1_Frame_Shift_Del_p.M718fs P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 718 chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) CCCTGGTGCATTTTTTTGGGT 0.507 11 1012 --- --- --- --- YIPF2 78992 broad.mit.edu 37 19 11038362 11038364 + In_Frame_Del DEL GCT GCT - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr19:11038362_11038364delGCT ENST00000586748.1 - 4 393_395 c.221_223delAGC c.(220-225)ccg>c p.QP74del YIPF2_ENST00000253031.2_In_Frame_Del_p.QP74del|YIPF2_ENST00000590329.1_In_Frame_Del_p.QP74del Q9BWQ6 YIPF2_HUMAN Yip1 domain family, member 2 74 integral to membrane|transport vesicle cervix(1)|endometrium(1)|lung(3)|ovary(2) 7 CAGAATCCCGgctgctgctgctg 0.621 9 429 --- --- --- --- ZNF878 729747 broad.mit.edu 37 19 12155625 12155625 + Frame_Shift_Del DEL T T - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr19:12155625delT ENST00000602107.1 - 5 731 c.732delA c.(730-732)aafs p.K244fs CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|ZNF878_ENST00000547628.1_Frame_Shift_Del_p.K197fs C9JN71 ZN878_HUMAN zinc finger protein 878 197 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1) 8 ATTCATAGGGTTTTTTTGCAG 0.398 8 1380 --- --- --- --- MYO9B 4650 broad.mit.edu 37 19 17311567 17311568 + Frame_Shift_Ins INS - - G TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr19:17311567_17311568insG ENST00000595618.1 + 26 4644_4645 c.4492_4493insG c.(4492-4494)ggafs p.G1498fs MYO9B_ENST00000594824.1_Frame_Shift_Ins_p.G1498fs|MYO9B_ENST00000397274.2_Frame_Shift_Ins_p.G1498fs NM_001130065.1|NM_004145.3 NP_001123537.1|NP_004136.2 Q13459 MYO9B_HUMAN myosin IXB 1498 Tail. actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4) 39 AGAGAAGTGGCGGGAATCGGTG 0.559 8 865 --- --- --- --- ZNF626 199777 broad.mit.edu 37 19 20844252 20844252 + Translation_Start_Site DEL T T - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr19:20844252delT ENST00000601440.1 - 0 147 ZNF626_ENST00000291750.6_Start_Codon_Del|CTC-513N18.7_ENST00000595094.1_lincRNA NM_001076675.2 NP_001070143.1 Q68DY1 ZN626_HUMAN zinc finger protein 626 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|lung(3)|skin(1) 6 ACTCTCACCATTTTTGGCTTC 0.602 7 916 --- --- --- --- HAMP 57817 broad.mit.edu 37 19 35773520 35773522 + In_Frame_Del DEL CTC CTC - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr19:35773520_35773522delCTC ENST00000598398.1 + 2 336_338 c.40_42delCTC c.(40-42)del p.L18del HAMP_ENST00000222304.3_In_Frame_Del_p.L18del NM_021175.2 NP_066998.1 P81172 HEPC_HUMAN hepcidin antimicrobial peptide 18 defense response to bacterium|defense response to fungus|immune response|killing of cells of other organism extracellular region hormone activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1) 4 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) TTGCCTCCTGCTCCTCCTCCTCC 0.640 15 1336 --- --- --- --- ATP4A 495 broad.mit.edu 37 19 36054349 36054351 + In_Frame_Del DEL CTT CTT - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr19:36054349_36054351delCTT ENST00000262623.3 - 2 119_121 c.91_93delAAG c.(91-93)del p.K31del NM_000704.2 NP_000695.2 P20648 ATP4A_HUMAN ATPase, H+/K+ exchanging, alpha polypeptide 31 ATP biosynthetic process|ATP hydrolysis coupled proton transport integral to plasma membrane ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 53 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831) CGCCACCCGCCTTCTTCTTCTTG 0.601 11 1893 --- --- --- --- KIRREL2 84063 broad.mit.edu 37 19 36357321 36357321 + Frame_Shift_Del DEL C C - rs147748520 byFrequency TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr19:36357321delC ENST00000360202.5 + 15 2252 c.2054delC c.(2053-2055)gcfs p.A685fs KIRREL2_ENST00000586102.2_Frame_Shift_Del_p.A665fs|KIRREL2_ENST00000347900.6_Intron|KIRREL2_ENST00000592409.1_Frame_Shift_Del_p.A650fs|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000262625.7_Intron NM_032123.5|NM_199180.2 NP_115499.4|NP_954649.2 Q6UWL6 KIRR2_HUMAN kin of IRRE like 2 (Drosophila) 685 Pro-rich. cell adhesion integral to membrane|plasma membrane breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 48 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) CCAGATCTGGCCCCCGGGACT 0.592 7 1155 --- --- --- --- SPRED3 399473 broad.mit.edu 37 19 38882864 38882866 + In_Frame_Del DEL CCT CCT - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr19:38882864_38882866delCCT ENST00000587013.1 + 3 569_571 c.491_493delCCT c.(490-495)ccc>c p.PS164del SPRED3_ENST00000587564.2_3'UTR|SPRED3_ENST00000586301.1_In_Frame_Del_p.PS120del|SPRED3_ENST00000338502.4_In_Frame_Del_p.PS120del Q2MJR0 SPRE3_HUMAN sprouty-related, EVH1 domain containing 3 120 multicellular organismal development central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1) 9 all_cancers(60;3.4e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) TCACTCAccccctcctcctcctc 0.645 9 149 --- --- --- --- ERF 2077 broad.mit.edu 37 19 42753149 42753151 + In_Frame_Del DEL GAA GAA - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr19:42753149_42753151delGAA ENST00000222329.4 - 4 1270_1272 c.1113_1115delTTC c.(1111-1116)tcc>tc p.SS371del AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_In_Frame_Del_p.SS296del NM_006494.2 NP_006485.2 P50548 ERF_HUMAN Ets2 repressor factor 371 Poly-Ser. cell proliferation|regulation of transcription from RNA polymerase II promoter nucleus ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1) 17 Prostate(69;0.00682) GAATGGGGAGGAAGAAGAAGAAG 0.680 9 718 --- --- --- --- PSG7 5676 broad.mit.edu 37 19 43428981 43428982 + RNA INS - - G TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr19:43428981_43428982insG ENST00000406070.2 - 0 1340 NM_002783.2 NP_002774.2 Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy extracellular region Prostate(69;0.00682) tccagtctacagtggataataa 0.406 15 288 --- --- --- --- LYPD3 27076 broad.mit.edu 37 19 43969653 43969655 + In_Frame_Del DEL AGC AGC - rs141441894 byFrequency TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr19:43969653_43969655delAGC ENST00000244333.3 - 1 157_159 c.69_71delGCT c.(67-72)ctt>ct p.LL23del NM_014400.2 NP_055215.2 O95274 LYPD3_HUMAN LY6/PLAUR domain containing 3 23 anchored to plasma membrane cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2) 11 Prostate(69;0.0153) ACCTCCGCGAAGCAGCAGCAGCA 0.675 11 1063 --- --- --- --- PVRL2 5819 broad.mit.edu 37 19 45381749 45381751 + In_Frame_Del DEL GAG GAG - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr19:45381749_45381751delGAG ENST00000252485.4 + 6 1663_1665 c.1312_1314delGAG c.(1312-1314)del p.E445del PVRL2_ENST00000252483.5_Intron NM_002856.2 NP_002847.1 Q92692 PVRL2_HUMAN poliovirus receptor-related 2 (herpesvirus entry mediator B) 504 adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor cell surface|integral to membrane|zonula adherens cell adhesion molecule binding|coreceptor activity|protein homodimerization activity breast(1)|endometrium(1)|large_intestine(6)|lung(5) 13 Lung NSC(12;0.00195)|all_lung(12;0.00522) Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0143) TGGCAaggatgaggaggaggagg 0.591 9 147 --- --- --- --- RSPH6A 81492 broad.mit.edu 37 19 46299165 46299167 + In_Frame_Del DEL CCT CCT - rs62639328 byFrequency TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr19:46299165_46299167delCCT ENST00000221538.3 - 6 2256_2258 c.2114_2116delAGG c.(2113-2118)ggc>g p.EG705del RSPH6A_ENST00000600188.1_In_Frame_Del_p.EG441del|RSPH6A_ENST00000597055.1_3'UTR NM_030785.3 NP_110412.1 Q9H0K4 RSH6A_HUMAN radial spoke head 6 homolog A (Chlamydomonas) 705 Glu-rich. intracellular central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 32 tcctcctcgccctcctcctcctc 0.586 8 1012 --- --- --- --- DHX34 9704 broad.mit.edu 37 19 47883158 47883160 + In_Frame_Del DEL GGA GGA - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr19:47883158_47883160delGGA ENST00000328771.4 + 14 3247_3249 c.2898_2900delGGA c.(2896-2901)ctg>ct p.LE966del NM_014681.5 NP_055496.2 Q14147 DHX34_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 34 966 intracellular ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132) AGCAGCAGCTGGAGGAGGAGGAG 0.660 7 369 --- --- --- --- SLC8A2 6543 broad.mit.edu 37 19 47935681 47935683 + In_Frame_Del DEL TCC TCC - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr19:47935681_47935683delTCC ENST00000236877.6 - 9 2525_2527 c.2130_2132delGGA c.(2128-2133)gac>ga p.ED710del SLC8A2_ENST00000542837.1_In_Frame_Del_p.ED466del|SLC8A2_ENST00000539381.1_In_Frame_Del_p.ED173del|SLC8A2_ENST00000601757.1_5'UTR NM_015063.2 NP_055878.1 Q9UPR5 NAC2_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 2 710 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1) 31 all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173) OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457) CCGGGACCCGTCCTCCTCCTCCT 0.616 22 778 --- --- --- --- FUZ 80199 broad.mit.edu 37 19 50310483 50310485 + In_Frame_Del DEL CAG CAG - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr19:50310483_50310485delCAG ENST00000313777.4 - 11 1343_1345 c.1180_1182delCTG c.(1180-1182)del p.L394del FUZ_ENST00000528094.1_In_Frame_Del_p.L358del|FUZ_ENST00000445575.2_Intron|FUZ_ENST00000533418.1_In_Frame_Del_p.L344del NM_025129.4 NP_079405.2 Q9BT04 FUZZY_HUMAN fuzzy planar cell polarity protein 394 Leu-rich. cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway cytoplasm|cytoskeleton endometrium(1)|lung(3) 4 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116) TCTGGGGAGACAGCAGCAGCAGC 0.635 9 316 --- --- --- --- NAPSA 9476 broad.mit.edu 37 19 50868836 50868838 + In_Frame_Del DEL GCA GCA - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr19:50868836_50868838delGCA ENST00000253719.2 - 1 249_251 c.41_43delTGC c.(40-45)cct>c p.LP14del NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron NM_004851.1 NP_004842.1 O96009 NAPSA_HUMAN napsin A aspartic peptidase 14 proteolysis extracellular region aspartic-type endopeptidase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3) 12 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183) TTcagcagaggcagcagcagcag 0.596 8 239 --- --- --- --- SIGLEC7 27036 broad.mit.edu 37 19 51645628 51645630 + Translation_Start_Site DEL TGC TGC - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr19:51645628_51645630delTGC ENST00000317643.6 + 0 71_73 SIGLEC7_ENST00000600577.1_Start_Codon_Del|SIGLEC7_ENST00000305628.7_Start_Codon_Del NM_014385.2 NP_055200.1 Q9Y286 SIGL7_HUMAN sialic acid binding Ig-like lectin 7 cell adhesion integral to plasma membrane receptor activity|sugar binding autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1) 29 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297) ACCCCAGATAtgctgctgctgct 0.596 8 187 --- --- --- --- BRSK1 84446 broad.mit.edu 37 19 55815036 55815036 + Splice_Site DEL C C - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr19:55815036delC ENST00000309383.1 + 12 1405 c.1126_splice c.e12-1 p.D376_splice BRSK1_ENST00000326848.7_Splice_Site_p.D71_splice|BRSK1_ENST00000590333.1_Splice_Site_p.D392_splice NM_032430.1 NP_115806.1 Q8TDC3 BRSK1_HUMAN BR serine/threonine kinase 1 376 establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV cell junction|cytoplasm|nucleus magnesium ion binding|protein serine/threonine kinase activity p.R379fs*9(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1) 48 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0474) GTCCCTCAGACCCCCCCCGGA 0.582 15 549 --- --- --- --- CD93 22918 broad.mit.edu 37 20 23065992 23065992 + Frame_Shift_Del DEL C C - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr20:23065992delC ENST00000246006.4 - 1 985 c.838delG c.(838-840)atfs p.D280fs NM_012072.3 NP_036204.2 Q9NPY3 C1QR1_HUMAN CD93 molecule 280 EGF-like 1. cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis plasma membrane calcium ion binding|complement component C1q binding|receptor activity|sugar binding p.D280N(1) NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) AAGGAGCCATCCCCCCCTTCA 0.627 10 1285 --- --- --- --- SS18L1 26039 broad.mit.edu 37 20 60733985 60733985 + Frame_Shift_Del DEL C C - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr20:60733985delC ENST00000370848.4 + 1 142 c.142delC c.(142-144)ccfs p.P49fs SS18L1_ENST00000421564.1_Intron|SS18L1_ENST00000331758.3_Intron O75177 CREST_HUMAN synovial sarcoma translocation gene on chromosome 18-like 1 0 N-terminal auto-inhibitory domain; necessary for interaction with SMARCA4/BRG1 (By similarity). chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed chromosome kinetochore SS18L1/SSX1(2) ovary(2)|skin(1) 3 Breast(26;3.97e-09) BRCA - Breast invasive adenocarcinoma(19;1.92e-08) TCCCAGGAGTCCCCCAGCACG 0.622 T SSX1 synovial sarcoma 7 1329 --- --- --- --- DIDO1 11083 broad.mit.edu 37 20 61512380 61512381 + Frame_Shift_Ins INS - - G TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr20:61512380_61512381insG ENST00000266070.4 - 16 5252_5253 c.4927_4928insC c.(4927-4929)cccfs p.P1643fs DIDO1_ENST00000395343.1_Frame_Shift_Ins_p.P1643fs NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 1643 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) CGTGGCGGGGCGGGTGCCCTCC 0.728 7 161 --- --- --- --- MIR3648 0 broad.mit.edu 37 21 9825838 9825839 + RNA INS - - GCG rs3052281 TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr21:9825838_9825839insGCG ENST00000581792.1 + 0 7_8 NR_037421.1 cggccgcgactgcggcggcggt 0.842 8 138 --- --- --- --- MIR3648 0 broad.mit.edu 37 21 9825964 9825965 + RNA INS - - GCG TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr21:9825964_9825965insGCG ENST00000581792.1 + 0 133_134 NR_037421.1 CGGCCGCGCTCGAGGGGTCCCC 0.817 9 182 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11058447 11058450 + RNA DEL AAAC AAAC - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr21:11058447_11058450delAAAC 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) GCAAAATATTAAACAAAGGATTCG 0.294 7 96 --- --- --- --- ANKRD20A11P 0 broad.mit.edu 37 21 15343608 15343609 + RNA INS - - A TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr21:15343608_15343609insA ENST00000344693.5 - 0 736 NR_027270.1 TAAAACAGCAGAAAAAATTAAT 0.272 19 546 --- --- --- --- PRDM15 63977 broad.mit.edu 37 21 43221415 43221417 + In_Frame_Del DEL CTG CTG - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr21:43221415_43221417delCTG ENST00000422911.1 - 25 3681_3683 c.3580_3582delCAG c.(3580-3582)del p.Q1194del PRDM15_ENST00000269844.3_In_Frame_Del_p.Q1503del|PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000538201.1_In_Frame_Del_p.Q1157del|PRDM15_ENST00000447207.2_In_Frame_Del_p.Q1137del|PRDM15_ENST00000398548.1_In_Frame_Del_p.Q1174del P57071 PRD15_HUMAN PR domain containing 15 1503 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1) 43 AGCTGTACATCTGCTGCTGCTGC 0.611 8 635 --- --- --- --- PRDM15 63977 broad.mit.edu 37 21 43259864 43259864 + Frame_Shift_Del DEL C C - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr21:43259864delC ENST00000422911.1 - 7 951 c.850delG c.(850-852)aafs p.E284fs PRDM15_ENST00000269844.3_Frame_Shift_Del_p.E613fs|PRDM15_ENST00000538201.1_Frame_Shift_Del_p.E247fs|PRDM15_ENST00000447207.2_Frame_Shift_Del_p.E247fs|PRDM15_ENST00000398548.1_Frame_Shift_Del_p.E284fs P57071 PRD15_HUMAN PR domain containing 15 613 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1) 43 GCAGGGGGTTCCCCCCGGGGT 0.572 7 1195 --- --- --- --- PTTG1IP 754 broad.mit.edu 37 21 46276194 46276196 + In_Frame_Del DEL GCA GCA - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr21:46276194_46276196delGCA ENST00000330938.3 - 4 581_583 c.361_363delTGC c.(361-363)del p.C121del PTTG1IP_ENST00000445724.2_Intron|PTTG1IP_ENST00000397887.3_Intron|PTTG1IP_ENST00000494690.1_5'UTR|PTTG1IP_ENST00000397886.3_In_Frame_Del_p.C100del NM_004339.3 NP_004330.1 P53801 PTTG_HUMAN pituitary tumor-transforming 1 interacting protein 121 Poly-Cys. protein import into nucleus cytoplasm|integral to membrane|nucleus ovary(1)|prostate(1) 2 Colorectal(79;0.0659) TCTTCCTCCTGCAGCAGCAGCAG 0.616 7 489 --- --- --- --- MED15 51586 broad.mit.edu 37 22 20918817 20918819 + In_Frame_Del DEL CAG CAG - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr22:20918817_20918819delCAG ENST00000263205.7 + 6 601_603 c.532_534delCAG c.(532-534)del p.Q188del MED15_ENST00000406969.1_In_Frame_Del_p.Q162del|MED15_ENST00000425759.2_In_Frame_Del_p.Q77del|MED15_ENST00000542773.1_5'UTR|MED15_ENST00000541476.1_In_Frame_Del_p.Q162del|MED15_ENST00000382974.2_In_Frame_Del_p.Q117del|MED15_ENST00000292733.7_In_Frame_Del_p.Q188del NM_001003891.1 NP_001003891.1 Q96RN5 MED15_HUMAN mediator complex subunit 15 188 Poly-Gln. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 25 all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209) ggcggcgctacagcagcagcagc 0.626 OREG0026319 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 169 --- --- --- --- MED15 51586 broad.mit.edu 37 22 20918916 20918918 + In_Frame_Del DEL CAG CAG - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr22:20918916_20918918delCAG ENST00000263205.7 + 6 700_702 c.631_633delCAG c.(631-633)del p.Q218del MED15_ENST00000406969.1_In_Frame_Del_p.Q192del|MED15_ENST00000425759.2_In_Frame_Del_p.Q107del|MED15_ENST00000542773.1_In_Frame_Del_p.Q23del|MED15_ENST00000541476.1_In_Frame_Del_p.Q192del|MED15_ENST00000382974.2_In_Frame_Del_p.Q147del|MED15_ENST00000292733.7_In_Frame_Del_p.Q218del NM_001003891.1 NP_001003891.1 Q96RN5 MED15_HUMAN mediator complex subunit 15 218 Poly-Gln. Missing (in Ref. 4; CAG30423). regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 25 all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209) gcagcagctccagcagcagcagc 0.567 OREG0026319 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 153 --- --- --- --- MTMR3 8897 broad.mit.edu 37 22 30408494 30408494 + Frame_Shift_Del DEL C C - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr22:30408494delC ENST00000333027.3 + 13 1587 c.1259delC c.(1258-1260)acfs p.T420fs MTMR3_ENST00000401950.2_Frame_Shift_Del_p.T420fs|MTMR3_ENST00000323630.5_Frame_Shift_Del_p.T284fs|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000351488.3_Frame_Shift_Del_p.T420fs|MTMR3_ENST00000406629.1_Frame_Shift_Del_p.T420fs NM_153050.2|NM_153051.2 NP_694690.1|NP_694691.1 Q13615 MTMR3_HUMAN myotubularin related protein 3 420 Myotubularin phosphatase. phosphatidylinositol dephosphorylation cytoplasm|membrane|membrane fraction|nucleus metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107) TGGGACCGCACCCCCCAGATT 0.547 7 2766 --- --- --- --- SF3A1 10291 broad.mit.edu 37 22 30742328 30742330 + In_Frame_Del DEL CTG CTG - rs141985009 byFrequency TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr22:30742328_30742330delCTG ENST00000215793.7 - 3 518_520 c.364_366delCAG c.(364-366)del p.Q122del SF3A1_ENST00000439242.1_Intron NM_005877.4 NP_005868.1 Q15459 SF3A1_HUMAN splicing factor 3a, subunit 1, 120kDa 122 Poly-Gln. nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1) 29 GCTGGGTGGTCTGCTGCTGCTGC 0.606 10 751 --- --- --- --- MYH9 4627 broad.mit.edu 37 22 36689419 36689421 + In_Frame_Del DEL CCT CCT - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr22:36689419_36689421delCCT ENST00000216181.5 - 30 4279_4281 c.4049_4051delAGG c.(4048-4053)gcc>g p.EA1350del NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 1350 E -> EE (in Ref. 7). actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 TTGTGCTTGGCCTCCTCCTCCTC 0.650 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 9 513 --- --- --- --- TRIOBP 11078 broad.mit.edu 37 22 38120323 38120325 + In_Frame_Del DEL CCT CCT - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr22:38120323_38120325delCCT ENST00000406386.3 + 7 2015_2017 c.1760_1762delCCT c.(1759-1764)gcc>g p.AS587del RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 587 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) AATCCCAGAGCCTCCTCTCCCAA 0.596 17 1610 --- --- --- --- FAM109B 150368 broad.mit.edu 37 22 42473377 42473377 + Frame_Shift_Del DEL G G - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr22:42473377delG ENST00000321753.3 + 3 267 c.80delG c.(79-81)tgfs p.W27fs NM_001002034.2 NP_001002034.2 Q6ICB4 SESQ2_HUMAN family with sequence similarity 109, member B 27 PH. endosome organization|receptor recycling|retrograde transport, endosome to Golgi clathrin-coated vesicle|early endosome|recycling endosome|trans-Golgi network protein homodimerization activity endometrium(2)|large_intestine(2)|liver(2)|lung(1)|prostate(1) 8 CTGCGCACCTGGGGGGGCCCA 0.632 7 762 --- --- --- --- TCF20 6942 broad.mit.edu 37 22 42610573 42610575 + In_Frame_Del DEL AGG AGG - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr22:42610573_42610575delAGG ENST00000359486.3 - 1 873_875 c.737_739delCCT c.(736-741)ttc>t p.SF246del TCF20_ENST00000335626.4_In_Frame_Del_p.SF246del NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 246 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 GGTGAAGGGAaggaggaggagga 0.507 9 511 --- --- --- --- ARFGAP3 26286 broad.mit.edu 37 22 43218401 43218401 + Frame_Shift_Del DEL T T - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chr22:43218401delT ENST00000263245.5 - 9 906 c.687delA c.(685-687)aafs p.K229fs ARFGAP3_ENST00000429508.2_Frame_Shift_Del_p.K157fs|ARFGAP3_ENST00000437119.2_Frame_Shift_Del_p.K185fs NM_001142293.1|NM_014570.4 NP_001135765.1|NP_055385.3 Q9NP61 ARFG3_HUMAN ADP-ribosylation factor GTPase activating protein 3 229 intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport cytosol|Golgi membrane ARF GTPase activator activity|protein transporter activity|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1) 11 CCAAACTTCCTTTTTTGGCCC 0.423 7 927 --- --- --- --- ASB11 0 broad.mit.edu 37 X 15333659 15333660 + Frame_Shift_Ins INS - - A TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chrX:15333659_15333660insA ENST00000380470.3 - 1 86_87 c.68_69insT c.(67-69)tttfs p.F23fs ASB11_ENST00000480796.1_Frame_Shift_Ins_p.F23fs NM_001201583.1|NM_080873.2 NP_001188512.1|NP_543149.1 Q8WXH4 ASB11_HUMAN ankyrin repeat and SOCS box containing 11 23 intracellular signal transduction breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1) 16 Hepatocellular(33;0.183) AAAGCTTAAAGAAAAAAAACGT 0.342 9 680 --- --- --- --- CNKSR2 22866 broad.mit.edu 37 X 21627678 21627680 + In_Frame_Del DEL GAG GAG - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chrX:21627678_21627680delGAG ENST00000425654.2 + 19 3025_3027 c.2545_2547delGAG c.(2545-2547)del p.E856del CNKSR2_ENST00000279451.4_In_Frame_Del_p.E886del|CNKSR2_ENST00000543067.1_In_Frame_Del_p.E837del|CNKSR2_ENST00000379510.3_In_Frame_Del_p.E886del NM_001168647.1 NP_001162118.1 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 2 886 regulation of signal transduction cytoplasm|membrane protein binding breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3) 61 ggtggaggaagaggaggaggagg 0.517 9 376 --- --- --- --- NUDT11 0 broad.mit.edu 37 X 51239296 51239309 + Translation_Start_Site DEL TCCTCGAGGCAGCC TCCTCGAGGCAGCC - rs78182391 TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chrX:51239296_51239309delTCCTCGAGGCAGCC ENST00000375992.3 - 0 139_152 NM_018159.3 NP_060629.2 Q96G61 NUD11_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 11 cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding p.?(5) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2) 9 Ovarian(276;0.236) TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC 0.692 HNSCC(48;0.14) 32 83 --- --- --- --- PAK3 5063 broad.mit.edu 37 X 110406206 110406208 + In_Frame_Del DEL GAA GAA - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chrX:110406206_110406208delGAA ENST00000519681.1 + 10 1037_1039 c.595_597delGAA c.(595-597)del p.E203del PAK3_ENST00000518291.1_In_Frame_Del_p.E218del|PAK3_ENST00000360648.4_In_Frame_Del_p.E218del|PAK3_ENST00000372010.1_In_Frame_Del_p.E197del|PAK3_ENST00000446737.1_In_Frame_Del_p.E182del|PAK3_ENST00000372007.4_In_Frame_Del_p.E182del|PAK3_ENST00000425146.1_In_Frame_Del_p.E182del|PAK3_ENST00000417227.1_In_Frame_Del_p.E203del|PAK3_ENST00000262836.4_In_Frame_Del_p.E197del O75914 PAK3_HUMAN p21 protein (Cdc42/Rac)-activated kinase 3 197 Linker. multicellular organismal development ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 agatgaagaggaagaagaagaag 0.394 TSP Lung(19;0.15) 12 816 --- --- --- --- SPANXN3 139067 broad.mit.edu 37 X 142605149 142605149 + Frame_Shift_Del DEL T T - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chrX:142605149delT ENST00000370503.2 - 1 154 c.71delA c.(70-72)atfs p.N24fs NM_001009609.2 NP_001009609.1 Q5MJ09 SPXN3_HUMAN SPANX family, member N3 24 endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1) 14 Acute lymphoblastic leukemia(192;6.56e-05) TACCTCATCATTTTTTTTGTT 0.453 18 1151 --- --- --- --- ZNF185 7739 broad.mit.edu 37 X 152087570 152087572 + In_Frame_Del DEL GAG GAG - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chrX:152087570_152087572delGAG ENST00000535861.1 + 7 523_525 c.475_477delGAG c.(475-477)del p.E165del ZNF185_ENST00000449285.2_In_Frame_Del_p.E165del|ZNF185_ENST00000370270.1_In_Frame_Del_p.E25del|ZNF185_ENST00000318504.7_In_Frame_Del_p.E165del|ZNF185_ENST00000318529.8_In_Frame_Del_p.E30del|ZNF185_ENST00000370268.4_In_Frame_Del_p.E165del|ZNF185_ENST00000324823.6_In_Frame_Del_p.E30del|ZNF185_ENST00000539731.1_In_Frame_Del_p.E165del NM_001178106.1 NP_001171577.1 O15231 ZN185_HUMAN zinc finger protein 185 (LIM domain) 165 Poly-Glu. cytoplasm|cytoskeleton|focal adhesion zinc ion binding NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3) 12 Acute lymphoblastic leukemia(192;6.56e-05) AGGGGACACCgaggaggaggagg 0.596 7 206 --- --- --- --- PNMA3 29944 broad.mit.edu 37 X 152225444 152225444 + Frame_Shift_Del DEL G G - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chrX:152225444delG ENST00000447306.1 + 2 368 c.32delG c.(31-33)cgfs p.R11fs PNMA3_ENST00000370264.4_Frame_Shift_Del_p.R11fs|PNMA3_ENST00000370265.4_Frame_Shift_Del_p.R11fs NM_013364.4 NP_037496.3 Q9UL41 PNMA3_HUMAN paraneoplastic Ma antigen 3 11 apoptosis nucleolus nucleic acid binding|zinc ion binding p.E13fs*22(1) endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2) 16 Acute lymphoblastic leukemia(192;6.56e-05) gactggtgtcggggggaacac 0.572 8 766 --- --- --- --- UBL4A 8266 broad.mit.edu 37 X 153714159 153714160 + Frame_Shift_Ins INS - - G rs150392222 TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chrX:153714159_153714160insG ENST00000369660.4 - 3 398_399 c.313_314insC c.(313-315)ccafs p.P105fs UBL4A_ENST00000477777.1_5'UTR|UBL4A_ENST00000369653.4_Frame_Shift_Ins_p.P105fs NM_014235.3 NP_055050.1 P11441 UBL4A_HUMAN ubiquitin-like 4A 105 protein modification process|tail-anchored membrane protein insertion into ER membrane|transport BAT3 complex small conjugating protein ligase activity endometrium(5)|lung(1)|urinary_tract(1) 7 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) ACTGAAGTGGCGGGCCAAGACT 0.629 9 1360 --- --- --- --- RP13-228J13.1 0 broad.mit.edu 37 X 154578865 154578865 + RNA DEL G G - rs150846040 by1000genomes TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chrX:154578865delG ENST00000412436.1 - 0 98 RP13-228J13.5_ENST00000453508.1_RNA|RP13-228J13.1_ENST00000444722.1_RNA TTTTCTCTCTGTTTTTTTTTT 0.418 7 59 --- --- --- --- RNA5-8SP6 0 broad.mit.edu 37 Y 10037863 10037863 + RNA DEL C C - TCGA-IB-7888-01A-11D-2154-08 TCGA-IB-7888-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 848ffe2a-2771-4f43-8b27-d59425f52af4 8f106862-2abd-4d1f-b9af-8d584a18d612 g.chrY:10037863delC ENST00000515896.1 + 0 100 ATCGACACTTCGAACGCACTT 0.552 22 137 --- --- --- ---