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 PDGFRB 5159 broad.mit.edu 37 5 149513526 149513526 + Missense_Mutation SNP C C T TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr5:149513526C>T ENST00000261799.4 - 5 1146 c.677G>A c.(676-678)cGc>cAc p.R226H NM_002609.3 NP_002600.1 P09619 PGFRB_HUMAN platelet-derived growth factor receptor, beta polypeptide 226 Ig-like C2-type 3. aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1) 75 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) CTCACCCTGGCGGACCACAGT 0.542000 T """ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP""" """MPD, AML, CMML, CML""" 106 354 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145293269 145293269 + Splice_Site SNP G G A rs61350760 by1000genomes TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr1:145293269G>A ENST00000369338.1 + 1 155 c.e1+1 NBPF10_ENST00000369339.2_Intron|RP11-458D21.5_ENST00000468030.1_Splice_Site A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) TTTCACAACAGTAAGTTAAGA 0.423000 41 682 0 0 1 0 0 NPC1 4864 broad.mit.edu 37 18 21136301 21136301 + Missense_Mutation SNP C C T rs77080672 byFrequency TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr18:21136301C>T ENST00000269228.5 - 8 1786 c.1232G>A c.(1231-1233)cGg>cAg p.R411Q NPC1_ENST00000412552.2_Missense_Mutation_p.R161Q|NPC1_ENST00000540608.1_5'UTR NM_000271.4 NP_000262.2 O15118 NPC1_HUMAN Niemann-Pick disease, type C1 411 autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm hedgehog receptor activity|protein binding|sterol transporter activity breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1) 38 all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127) GAGAGGGGCCCGGATGATGAG 0.557000 87 266 0 0 1 0 0 SNED1 25992 broad.mit.edu 37 2 241991871 241991871 + Missense_Mutation SNP G G A TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr2:241991871G>A ENST00000310397.8 + 15 2069 c.2069G>A c.(2068-2070)cGc>cAc p.R690H SNED1_ENST00000401884.1_Missense_Mutation_p.R690H|AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000405547.3_Missense_Mutation_p.R690H|SNED1_ENST00000469006.1_3'UTR|SNED1_ENST00000342631.6_Missense_Mutation_p.R690H NM_001080437.1 NP_001073906.1 Q8TER0 SNED1_HUMAN sushi, nidogen and EGF-like domains 1 690 EGF-like 10. cell-matrix adhesion extracellular region calcium ion binding NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1) 24 all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109) TACATGGGACGCCGGTGCCAG 0.652000 22 280 0 0 1 0 0 RNF213 57674 broad.mit.edu 37 17 78282819 78282819 + Splice_Site SNP A A T rs143170125 TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr17:78282819A>T ENST00000582970.1 + 14 2646 c.2501_splice c.e14-1 p.I835_splice RNF213_ENST00000456466.1_Splice_Site_p.I835_splice|RNF213_ENST00000508628.2_Splice_Site_p.I884_splice|RNF213_ENST00000319921.4_Splice_Site_p.I835_splice NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 835 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) GCGGGGCAGGATTCCCGAGGA 0.478000 153 469 0 0 1 0 0 POM121 9883 broad.mit.edu 37 7 72413896 72413896 + Missense_Mutation SNP A A G TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr7:72413896A>G ENST00000395270.1 + 14 3610 c.2569A>G c.(2569-2571)Acc>Gcc p.T857A POM121_ENST00000434423.2_Missense_Mutation_p.T1122A|POM121_ENST00000446813.1_Missense_Mutation_p.T857A|POM121_ENST00000358357.3_Missense_Mutation_p.T857A|POM121_ENST00000257622.4_Missense_Mutation_p.T857A NM_001257190.1 NP_001244119.1 Q96HA1 P121A_HUMAN POM121 transmembrane nucleoporin 1122 Pore side (Potential).|Thr-rich. carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore p.T857A(8) NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Lung NSC(55;0.163) AGGCTCCAGCACCACCACCGG 0.637000 6 227 0 0 1 0 0 PTCHD2 57540 broad.mit.edu 37 1 11596541 11596541 + Missense_Mutation SNP C C T TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr1:11596541C>T ENST00000294484.6 + 21 4115 c.3977C>T c.(3976-3978)aCg>aTg p.T1326M PTCHD2_ENST00000304391.6_Silent_p.H212H|PTCHD2_ENST00000389575.3_Missense_Mutation_p.T1326M NM_020780.1 NP_065831.1 Q9P2K9 PTHD2_HUMAN patched domain containing 2 1326 cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) GCACTCAACACGGGCGTGTCC 0.607000 107 262 0 0 1 0 0 APBB1 322 broad.mit.edu 37 11 6432332 6432332 + Silent SNP C C T TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr11:6432332C>T ENST00000389906.2 - 2 345 c.246G>A c.(244-246)acG>acA p.T82T APBB1_ENST00000533407.1_Intron|APBB1_ENST00000311051.3_Silent_p.T82T|APBB1_ENST00000299402.6_Silent_p.T82T NM_001257325.1 NP_001244254.1 O00213 APBB1_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) 82 apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1) 24 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) CACGGTGGGCCGTGGCGGCCC 0.667000 490 1182 0 0 1 0 0 KLK2 3817 broad.mit.edu 37 19 51378013 51378013 + Missense_Mutation SNP G G T TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr19:51378013G>T ENST00000325321.3 + 2 308 c.83G>T c.(82-84)gGc>gTc p.G28V AC037199.1_ENST00000594218.1_Missense_Mutation_p.P10T|KLK2_ENST00000391810.2_Intron|KLK2_ENST00000358049.4_Missense_Mutation_p.G28V|KLK2_ENST00000597509.1_3'UTR P20151 KLK2_HUMAN kallikrein-related peptidase 2 28 Peptidase S1. proteolysis serine-type endopeptidase activity KLK2/ETV1(3)|KLK2/ETV4(2) large_intestine(3)|lung(6)|ovary(1)|skin(1) 11 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871) ATTGTGGGAGGCTGGGAGTGT 0.622000 T ETV4 prostate 85 256 1.55521e-42 1.66763e-42 1 1 0 TNRC18 84629 broad.mit.edu 37 7 5410118 5410118 + Missense_Mutation SNP C C A TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr7:5410118C>A ENST00000399537.4 - 11 4455 c.4107G>T c.(4105-4107)gaG>gaT p.E1369D TNRC18_ENST00000430969.1_Missense_Mutation_p.E1369D O15417 TNC18_HUMAN trinucleotide repeat containing 18 1369 DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8) 11 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) CTTCCAGCTTCTCCAAGGCCT 0.662000 13 38 7.93312e-07 8.02327e-07 1 1 0 TNFAIP8L2 79626 broad.mit.edu 37 1 151131265 151131265 + Missense_Mutation SNP T T C TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr1:151131265T>C ENST00000368910.3 + 2 218 c.92T>C c.(91-93)aTa>aCa p.I31T NM_024575.4 NP_078851.2 Q6P589 TP8L2_HUMAN tumor necrosis factor, alpha-induced protein 8-like 2 31 innate immune response lung(1)|skin(2) 3 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) CATCTCTTCATAGATGAGACA 0.567000 224 293 0 0 1 0 0 KIAA0226L 80183 broad.mit.edu 37 13 46946268 46946268 + Missense_Mutation SNP C C T TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr13:46946268C>T ENST00000429979.1 - 3 947 c.343G>A c.(343-345)Gct>Act p.A115T KIAA0226L_ENST00000378797.2_Missense_Mutation_p.A115T|KIAA0226L_ENST00000480935.1_5'UTR|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.A48T|KIAA0226L_ENST00000534925.1_5'UTR|KIAA0226L_ENST00000378787.3_Missense_Mutation_p.A115T|KIAA0226L_ENST00000378781.3_Missense_Mutation_p.A115T|KIAA0226L_ENST00000409879.2_Intron|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.A115T|KIAA0226L_ENST00000322896.6_Intron NM_025113.2 NP_079389.2 Q9H714 CM018_HUMAN KIAA0226-like 115 Ser-rich. NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1) 26 TGGGGAGAAGCGCTGCCAACG 0.582000 76 246 0 0 1 0 0 COX10-AS1 0 broad.mit.edu 37 17 13928494 13928494 + RNA SNP C C T TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr17:13928494C>T ENST00000602743.1 - 0 224 CCATGCTGCCCCTAGTCCTGG 0.612000 4 41 0 0 1 0 0 PCDHB16 0 broad.mit.edu 37 5 140564033 140564033 + Silent SNP C C A TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr5:140564033C>A ENST00000361016.2 + 1 3054 c.1899C>A c.(1897-1899)cgC>cgA p.R633R NM_020957.1 NP_066008.1 Q9NRJ7 PCDBG_HUMAN 633 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1) 69 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGAGCGAGCGCGACGCAGCCA 0.692000 28 341 3.07281e-33 3.21742e-33 1 1 0 GFAP 2670 broad.mit.edu 37 17 42992592 42992592 + Missense_Mutation SNP C C T TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr17:42992592C>T ENST00000253408.5 - 1 328 c.263G>A c.(262-264)cGc>cAc p.R88H GFAP_ENST00000435360.2_Missense_Mutation_p.R88H|GFAP_ENST00000591327.1_5'UTR|GFAP_ENST00000586793.1_Missense_Mutation_p.R88H|GFAP_ENST00000588735.1_Intron NM_002055.4 NP_002046.1 P14136 GFAP_HUMAN glial fibrillary acidic protein 88 Coil 1A.|Rod. R -> C (in ALEXD; dbSNP:rs61622935).|R -> S (in ALEXD). cytoplasm|intermediate filament structural constituent of cytoskeleton endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 23 Prostate(33;0.0959) TTCCAGGAAGCGAACCTTCTC 0.607000 91 304 0 0 1 0 0 PRKCD 5580 broad.mit.edu 37 3 53218900 53218900 + Missense_Mutation SNP G G T TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr3:53218900G>T ENST00000394729.2 + 9 1126 c.798G>T c.(796-798)atG>atT p.M266I PRKCD_ENST00000330452.3_Missense_Mutation_p.M266I NM_212539.1 NP_997704.1 Q05655 KPCD_HUMAN protein kinase C, delta 266 activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction cytosol|endoplasmic reticulum|nucleoplasm ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Ovarian(412;0.0728) OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173) ACTGCGGCATGAATGTGCACC 0.597000 104 371 5.77035e-48 6.26294e-48 1 1 0 C9orf66 157983 broad.mit.edu 37 9 215392 215392 + Missense_Mutation SNP C C T TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr9:215392C>T ENST00000382387.2 - 1 501 c.5G>A c.(4-6)aGa>aAa p.R2K DOCK8_ENST00000432829.2_Intron|DOCK8_ENST00000453981.1_Intron NM_152569.2 NP_689782.2 Q5T8R8 CI066_HUMAN chromosome 9 open reading frame 66 2 central_nervous_system(1)|cervix(1)|kidney(1)|skin(1) 4 all_lung(41;0.218) all_cancers(5;2.09e-12)|all_epithelial(5;6.16e-09)|all_lung(10;1.15e-08)|Lung NSC(10;1.91e-08)|Acute lymphoblastic leukemia(5;0.00457)|all_hematologic(5;0.0332)|Breast(48;0.0646)|Prostate(43;0.137) Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157) all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154) CACGGAGTGTCTCATAAACGG 0.597000 86 242 0 0 1 0 0 TRADD 8717 broad.mit.edu 37 16 67189164 67189164 + Missense_Mutation SNP G G T TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr16:67189164G>T ENST00000345057.4 - 4 931 c.463C>A c.(463-465)Ctg>Atg p.L155M TRADD_ENST00000486556.1_Missense_Mutation_p.L95M NM_003789.3 NP_003780.1 Q15628 TRADD_HUMAN TNFRSF1A-associated via death domain 155 activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|tumor necrosis factor-mediated signaling pathway cytoskeleton|cytosol|receptor complex binding, bridging|death domain binding|identical protein binding|kinase binding|signal transducer activity endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1) 11 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184) GCATCCTCCAGCTCAGCCAGT 0.692000 24 32 1.10923e-09 1.13473e-09 1 1 0 AQP10 89872 broad.mit.edu 37 1 154296116 154296116 + Missense_Mutation SNP C C T TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr1:154296116C>T ENST00000484864.1 + 5 577 c.541C>T c.(541-543)Cgg>Tgg p.R181W AQP10_ENST00000324978.3_Missense_Mutation_p.R181W|AQP10_ENST00000355197.4_3'UTR Q96PS8 AQP10_HUMAN aquaporin 10 181 response to toxin|transmembrane transport|water transport integral to membrane|plasma membrane transporter activity p.R181W(2) central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1) 23 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) CCTGGACAGACGGAACAAGGG 0.612000 547 819 0 0 1 0 0 BACH2 60468 broad.mit.edu 37 6 90660535 90660535 + Silent SNP G G A TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr6:90660535G>A ENST00000257749.4 - 7 1997 c.1290C>T c.(1288-1290)agC>agT p.S430S RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000537989.1_Silent_p.S430S|BACH2_ENST00000343122.3_Silent_p.S430S|RP3-512E2.2_ENST00000445838.1_RNA NM_021813.2 NP_068585.1 Q9BYV9 BACH2_HUMAN BTB and CNC homology 1, basic leucine zipper transcription factor 2 430 nucleus protein dimerization activity|sequence-specific DNA binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 45 all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063) BRCA - Breast invasive adenocarcinoma(108;0.0799) AGAAGATCACGCTCCTCCGGT 0.592000 80 286 0 0 1 0 0 GAA 2548 broad.mit.edu 37 17 78086379 78086379 + Missense_Mutation SNP C C T TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr17:78086379C>T ENST00000302262.3 + 13 1976 c.1757C>T c.(1756-1758)gCg>gTg p.A586V GAA_ENST00000390015.3_Missense_Mutation_p.A586V NM_000152.3 NP_000143.2 P10253 LYAG_HUMAN glucosidase, alpha; acid 586 cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis lysosomal membrane carbohydrate binding|maltose alpha-glucosidase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 21 all_neural(118;0.117) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139) Acarbose(DB00284) CACCCCAGGGCGCTGGTGAAG 0.682000 58 156 0 0 1 0 0 UMOD 7369 broad.mit.edu 37 16 20357476 20357476 + Missense_Mutation SNP C C T rs141355380 TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr16:20357476C>T ENST00000396134.2 - 6 1376 c.1253G>A c.(1252-1254)cGg>cAg p.R418Q UMOD_ENST00000570689.1_Missense_Mutation_p.R385Q|UMOD_ENST00000396142.2_Missense_Mutation_p.R385Q|UMOD_ENST00000302509.4_Missense_Mutation_p.R385Q|UMOD_ENST00000396138.4_Missense_Mutation_p.R434Q|UMOD_ENST00000424589.1_Missense_Mutation_p.R418Q NM_001278614.1 NP_001265543.1 P07911 UROM_HUMAN uromodulin 385 ZP. cellular defense response|negative regulation of cell proliferation anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole calcium ion binding endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 GGGGCCATCCCGGGCTGGGGT 0.587000 67 196 0 0 1 0 0 PDZRN3 23024 broad.mit.edu 37 3 73433778 73433778 + Missense_Mutation SNP G G A TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr3:73433778G>A ENST00000263666.4 - 10 2053 c.1939C>T c.(1939-1941)Cgc>Tgc p.R647C PDZRN3_ENST00000479530.1_Missense_Mutation_p.R364C|PDZRN3_ENST00000535920.1_Missense_Mutation_p.R369C|PDZRN3_ENST00000462146.2_Missense_Mutation_p.R304C|PDZRN3_ENST00000466780.1_Missense_Mutation_p.R304C NM_015009.1 NP_055824.1 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 647 ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) AGGAGCTCGCGGAAGCGCTCG 0.662000 219 516 0 0 1 0 0 PDCD4 27250 broad.mit.edu 37 10 112649342 112649342 + Missense_Mutation SNP A A G TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr10:112649342A>G ENST00000393104.2 + 8 1156 c.796A>G c.(796-798)Acc>Gcc p.T266A PDCD4_ENST00000280154.7_Missense_Mutation_p.T277A|PDCD4_ENST00000481353.1_3'UTR NM_145341.3 NP_663314.1 Q53EL6 PDCD4_HUMAN programmed cell death 4 (neoplastic transformation inhibitor) 277 MI 1. apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent cytosol|nucleus protein binding|RNA binding breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 13 Breast(234;0.0848)|Lung NSC(174;0.238) Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125) TTTATGTAATACCTATATTGA 0.313000 280 665 0 0 1 0 0 VGLL1 51442 broad.mit.edu 37 X 135618242 135618242 + Silent SNP G G A TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chrX:135618242G>A ENST00000370634.3 + 2 233 c.63G>A c.(61-63)acG>acA p.T21T NM_016267.3 NP_057351.1 Q99990 VGLL1_HUMAN vestigial like 1 (Drosophila) 21 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus transcription coactivator activity p.T21T(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Acute lymphoblastic leukemia(192;0.000127) CTATAAAGACGGAATGGAATT 0.493000 206 519 0 0 1 0 0 NOL8 55035 broad.mit.edu 37 9 95077968 95077968 + Silent SNP C C T TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr9:95077968C>T ENST00000545558.1 - 7 1431 c.939G>A c.(937-939)gcG>gcA p.A313A NOL8_ENST00000542053.1_Silent_p.A245A|NOL8_ENST00000535387.1_Silent_p.A313A|NOL8_ENST00000442668.2_Silent_p.A313A|NOL8_ENST00000358855.4_Silent_p.A245A Q76FK4 NOL8_HUMAN nucleolar protein 8 313 DNA replication|positive regulation of cell growth nucleolus nucleotide binding|protein binding|RNA binding endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1) 16 TTTCCTCTTTCGCAATCATCA 0.368000 47 101 0 0 1 0 0 IQCH 64799 broad.mit.edu 37 15 67555549 67555549 + Silent SNP C C G TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr15:67555549C>G ENST00000335894.4 + 3 330 c.264C>G c.(262-264)tcC>tcG p.S88S IQCH_ENST00000512104.1_Silent_p.S88S|IQCH_ENST00000546225.1_5'UTR|IQCH_ENST00000358767.3_5'UTR NM_001031715.2 NP_001026885.1 Q86VS3 IQCH_HUMAN IQ motif containing H 88 NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1) 33 Colorectal(3;0.0856) CCCAGGCTTCCAAATGGTAAG 0.313000 67 151 0 0 1 0 0 ZNF761 388561 broad.mit.edu 37 19 53945909 53945909 + RNA SNP T T C rs28727441 by1000genomes TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr19:53945909T>C ENST00000454407.1 + 0 55 TPM3P9_ENST00000424846.3_RNA Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) ACCCTGACTCTGCCTGAGGCC 0.562000 19 290 0 0 1 0 0 BRD2 6046 broad.mit.edu 37 6 32944179 32944179 + Missense_Mutation SNP C C T TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr6:32944179C>T ENST00000395289.2 + 6 2364 c.763C>T c.(763-765)Cac>Tac p.H255Y BRD2_ENST00000443797.2_Missense_Mutation_p.H135Y|BRD2_ENST00000449085.2_Missense_Mutation_p.H208Y|BRD2_ENST00000395287.1_Missense_Mutation_p.H255Y|BRD2_ENST00000374825.4_Missense_Mutation_p.H255Y|BRD2_ENST00000374831.4_Missense_Mutation_p.H255Y P25440 BRD2_HUMAN bromodomain containing 2 255 spermatogenesis nucleus protein serine/threonine kinase activity central_nervous_system(3)|stomach(2) 5 CAAGTCCTTGCACTCTGCTGG 0.562000 151 430 0 0 1 0 0 ZXDB 158586 broad.mit.edu 37 X 57619097 57619097 + Missense_Mutation SNP G G A TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chrX:57619097G>A ENST00000374888.1 + 1 829 c.616G>A c.(616-618)Ggg>Agg p.G206R NM_007157.3 NP_009088.1 P98169 ZXDB_HUMAN zinc finger, X-linked, duplicated B 206 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding p.G206R(2) NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6) 27 CCAGCAGCCCGGGTGTCTGAT 0.711000 6 126 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c 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 11 322 0 0 1 0 0 DOCK2 1794 broad.mit.edu 37 5 169509808 169509808 + Missense_Mutation SNP C C A TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr5:169509808C>A ENST00000256935.8 + 52 5519 c.5439C>A c.(5437-5439)agC>agA p.S1813R DOCK2_ENST00000520908.1_Missense_Mutation_p.S1305R|DOCK2_ENST00000540750.1_Missense_Mutation_p.S874R|DOCK2_ENST00000523351.1_3'UTR NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1813 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AGCTGGCCAGCAAATCGGCTG 0.512000 24 222 2.32416e-17 2.40523e-17 1 1 0 SYNE1 23345 broad.mit.edu 37 6 152614868 152614868 + Missense_Mutation SNP C C T rs80265744 byFrequency TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr6:152614868C>T ENST00000367255.5 - 95 18468 c.17867G>A c.(17866-17868)cGc>cAc p.R5956H SYNE1_ENST00000423061.1_Missense_Mutation_p.R5885H|SYNE1_ENST00000341594.5_Missense_Mutation_p.R5568H|SYNE1_ENST00000448038.1_Missense_Mutation_p.R5885H|SYNE1_ENST00000356820.4_Missense_Mutation_p.R480H|SYNE1_ENST00000265368.4_Missense_Mutation_p.R5956H NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 5956 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) ATAGAGTGTGCGCTGCTTCTC 0.468000 HNSCC(10;0.0054) 155 405 0 0 1 0 0 DKK2 27123 broad.mit.edu 37 4 107845202 107845202 + Missense_Mutation SNP C C T TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr4:107845202C>T ENST00000285311.3 - 4 1394 c.689G>A c.(688-690)cGt>cAt p.R230H DKK2_ENST00000513208.1_Missense_Mutation_p.R130H|DKK2_ENST00000510463.1_Missense_Mutation_p.R184H NM_014421.2 NP_055236.1 Q9UBU2 DKK2_HUMAN dickkopf WNT signaling pathway inhibitor 2 230 DKK-type Cys-2. multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway extracellular space p.R230H(3) autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 32 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.34e-06) ACAGTCGCAACGCTGGAAAAT 0.488000 191 571 0 0 1 0 0 MAGI2 9863 broad.mit.edu 37 7 78636417 78636417 + Missense_Mutation SNP C C T TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr7:78636417C>T ENST00000354212.4 - 2 660 c.407G>A c.(406-408)cGc>cAc p.R136H MAGI2_ENST00000419488.1_Missense_Mutation_p.R136H|MAGI2_ENST00000522391.1_Missense_Mutation_p.R136H NM_012301.3 NP_036433.2 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 2 136 Guanylate kinase-like. cell junction|synapse|synaptosome phosphatase binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) TGGCACCGTGCGGAGGTAGAG 0.373000 178 415 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522772 95522772 + RNA SNP T T C TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr2:95522772T>C ENST00000432432.2 - 0 255 NR_040113.1 p.E49G(1) GCGCTCCACCTCCGCGGCGTC 0.682000 10 343 0 0 1 0 0 ZCCHC16 340595 broad.mit.edu 37 X 111697971 111697971 + Silent SNP G G A TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chrX:111697971G>A ENST00000340433.2 + 1 245 c.15G>A c.(13-15)acG>acA p.T5T NM_001004308.2 NP_001004308.2 Q6ZR62 ZCH16_HUMAN zinc finger, CCHC domain containing 16 5 nucleic acid binding|zinc ion binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 27 AGAAGTGCACGAAATCATCAT 0.458000 197 603 0 0 1 0 0 PEG3 5178 broad.mit.edu 37 19 57327380 57327380 + Silent SNP G G A TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr19:57327380G>A ENST00000326441.9 - 10 2793 c.2430C>T c.(2428-2430)ttC>ttT p.F810F ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Silent_p.F810F|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000598410.1_Silent_p.F686F|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Silent_p.F684F|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 810 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.F810F(2) NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) TGATAGCATCGAAGCTCTGAA 0.468000 299 797 0 0 1 0 0 SEPT7 989 broad.mit.edu 37 7 35930362 35930362 + Silent SNP T T C TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr7:35930362T>C ENST00000494488.2 + 10 915 c.915T>C c.(913-915)taT>taC p.Y305Y SEPT7_ENST00000432293.2_Intron|SEPT7_ENST00000350320.6_Silent_p.Y318Y|SEPT7_ENST00000435235.1_Silent_p.Y266Y|SEPT7_ENST00000399035.3_Silent_p.Y318Y|SEPT7_ENST00000399034.2_Silent_p.Y320Y Q16181 SEPT7_HUMAN septin 7 319 cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber GTP binding|protein binding|structural molecule activity p.Y320Y(3) central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1) 14 CTGTGACTTATAATGGAGTTG 0.323000 6 137 0 0 1 0 0 PES1 23481 broad.mit.edu 37 22 30975143 30975143 + Missense_Mutation SNP T T C TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr22:30975143T>C ENST00000402281.1 - 15 2076 c.1085A>G c.(1084-1086)gAg>gGg p.E362G PES1_ENST00000405677.1_Missense_Mutation_p.E362G|PES1_ENST00000402284.3_Missense_Mutation_p.E484G|PES1_ENST00000335214.6_Missense_Mutation_p.E496G|PES1_ENST00000354694.6_Missense_Mutation_p.E501G O00541 PESC_HUMAN pescadillo ribosomal biogenesis factor 1 501 BRCT.|Sufficient for interaction with MAP1B (By similarity). cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor protein binding breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 29 CATCCTCTGCTCTTCCAGGGC 0.602000 46 103 0 0 1 0 0 CACNA1B 774 broad.mit.edu 37 9 140919489 140919489 + Missense_Mutation SNP G G A TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr9:140919489G>A ENST00000277549.5 + 20 3296 c.727G>A c.(727-729)Gtg>Atg p.V243M CACNA1B_ENST00000277551.2_Missense_Mutation_p.V1051M|CACNA1B_ENST00000371367.5_Missense_Mutation_p.V35M|CACNA1B_ENST00000371355.4_Missense_Mutation_p.V1052M|CACNA1B_ENST00000371357.1_Missense_Mutation_p.V1052M|CACNA1B_ENST00000371363.1_Missense_Mutation_p.V1051M|CACNA1B_ENST00000371372.1_Missense_Mutation_p.V1051M|CACNA1B_ENST00000545473.1_Missense_Mutation_p.V35M Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 1051 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) TCTCCAGAAGGTGGAGGAACA 0.562000 19 73 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14513764 14513764 + Missense_Mutation SNP C C T TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c 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 9 271 0 0 1 0 0 DNM1P47 0 broad.mit.edu 37 15 102292953 102292953 + RNA SNP T T C TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr15:102292953T>C ENST00000561463.1 + 0 999 GGCACAGCGGTGCGACGAGAT 0.587000 5 67 0 0 1 0 0 STXBP5L 9515 broad.mit.edu 37 3 120673880 120673880 + Nonsense_Mutation SNP C C T TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr3:120673880C>T ENST00000273666.6 + 3 554 c.283C>T c.(283-285)Cga>Tga p.R95* STXBP5L_ENST00000471454.1_Nonsense_Mutation_p.R95*|STXBP5L_ENST00000472879.1_Nonsense_Mutation_p.R95*|STXBP5L_ENST00000492541.1_Nonsense_Mutation_p.R95*|STXBP5L_ENST00000497029.1_Nonsense_Mutation_p.R95* NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 95 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) AGGTGCTATACGAATGTATCC 0.363000 76 167 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195400728 195400728 + RNA SNP A A G rs12107841 by1000genomes TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr3:195400728A>G ENST00000445430.1 + 0 1324 GATTGTGCCCAGCCTGTACGC 0.587000 17 134 0 0 1 0 0 ATAD2 29028 broad.mit.edu 37 8 124382161 124382161 + Missense_Mutation SNP A A T TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr8:124382161A>T ENST00000287394.5 - 7 938 c.831T>A c.(829-831)gaT>gaA p.D277E ATAD2_ENST00000521903.1_5'UTR NM_014109.3 NP_054828.2 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 277 Asp-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) catcatcttcatcatcatcat 0.378000 6 174 0 0 1 0 0 AC024560.3 0 broad.mit.edu 37 3 197348646 197348646 + RNA SNP T T C rs138265355 by1000genomes TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr3:197348646T>C ENST00000418868.1 - 0 613 NR_003266.2 TGGGCCTGCCTGCCCTTTCCA 0.532000 15 643 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179599224 179599224 + Missense_Mutation SNP G G C TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr2:179599224G>C ENST00000589042.1 - 52 15551 c.15327C>G c.(15325-15327)ttC>ttG p.F5109L TTN_ENST00000591111.1_Missense_Mutation_p.F4792L|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.F3865L|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000582847.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 4792 Ig-like 31. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCTTGTCTTTGAACCAGCTAA 0.383000 154 488 0 0 1 0 0 CACNA1H 8912 broad.mit.edu 37 16 1270897 1270897 + Missense_Mutation SNP G G A TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr16:1270897G>A ENST00000348261.5 + 35 7213 c.6965G>A c.(6964-6966)cGg>cAg p.R2322Q CACNA1H_ENST00000565831.1_Missense_Mutation_p.R2316Q|CACNA1H_ENST00000358590.4_Missense_Mutation_p.R2316Q NM_021098.2 NP_066921.2 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, alpha 1H subunit 2322 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) GAGAAGAGGCGGGGGCTGTAC 0.652000 142 382 0 0 1 0 0 TBC1D3P2 0 broad.mit.edu 37 17 60342234 60342234 + RNA SNP C C T TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr17:60342234C>T ENST00000581291.1 - 0 1919 breast(2)|kidney(1)|lung(2) 5 GTCTGGTGTGCTCCATCTCTG 0.498000 9 245 0 0 1 0 0 PLIN4 729359 broad.mit.edu 37 19 4513275 4513275 + Missense_Mutation SNP C C T TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr19:4513275C>T ENST00000301286.3 - 3 654 c.655G>A c.(655-657)Ggc>Agc p.G219S NM_001080400.1 NP_001073869.1 Q96Q06 PLIN4_HUMAN perilipin 4 219 27 X 33 AA approximate tandem repeat. lipid particle|plasma membrane NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2) 41 TCTTTGGTGCCGGTCAGCACA 0.577000 274 781 0 0 1 0 0 HERC2 8924 broad.mit.edu 37 15 28459392 28459392 + Missense_Mutation SNP G G A rs138059246 byFrequency TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr15:28459392G>A ENST00000261609.7 - 41 6493 c.6385C>T c.(6385-6387)Cgc>Tgc p.R2129C NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 2129 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) GCCTGCGGGCGCACCCTGCGC 0.667000 10 347 0 0 1 0 0 TJP3 27134 broad.mit.edu 37 19 3740730 3740730 + Silent SNP C C T rs139746746 byFrequency TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr19:3740730C>T ENST00000541714.2 + 14 2274 c.1812C>T c.(1810-1812)taC>taT p.Y604Y TJP3_ENST00000382008.3_Silent_p.Y618Y|TJP3_ENST00000589378.1_Silent_p.Y613Y|TJP3_ENST00000539908.2_Silent_p.Y568Y|TJP3_ENST00000262968.9_Silent_p.Y637Y|TJP3_ENST00000587686.1_Silent_p.Y623Y NM_001267560.1 NP_001254489.1 O95049 ZO3_HUMAN tight junction protein 3 618 Guanylate kinase-like. tight junction protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18) AGGGCCGCTACCCGCCCTACG 0.667000 45 164 0 0 1 0 0 GNAQ 2776 broad.mit.edu 37 9 80646047 80646047 + Silent SNP G G A TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr9:80646047G>A ENST00000286548.4 - 1 327 c.105C>T c.(103-105)gaC>gaT p.D35D NM_002072.3 NP_002063.2 P50148 GNAQ_HUMAN guanine nucleotide binding protein (G protein), q polypeptide 35 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus cytoplasm|heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1) 302 CCCGGCGGGCGTCCCGCTTGT 0.716000 Mis uveal melanoma 4 79 0 0 1 0 0 ASIC3 9311 broad.mit.edu 37 7 150746117 150746117 + Missense_Mutation SNP G G A rs150462572 TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr7:150746117G>A ENST00000357922.4 + 1 739 c.145G>A c.(145-147)Gtg>Atg p.V49M ASIC3_ENST00000297512.8_Missense_Mutation_p.V49M|ASIC3_ENST00000349064.5_Missense_Mutation_p.V49M NM_020322.3 NP_064718.1 Q9UHC3 ACCN3_HUMAN acid-sensing (proton-gated) ion channel 3 49 sensory perception|signal transduction cytoplasm|integral to plasma membrane ligand-gated sodium channel activity GGCAGCGGCCGTGGTCCTGTC 0.662000 88 305 0 0 1 0 0 CYP3A5 0 broad.mit.edu 37 7 99258126 99258126 + Missense_Mutation SNP T T C TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr7:99258126T>C ENST00000343703.5 - 11 1378 c.992A>G c.(991-993)aAt>aGt p.N331S CYP3A5_ENST00000339843.2_3'UTR|CYP3A5_ENST00000222982.4_Missense_Mutation_p.N341S cytochrome P450, family 3, subfamily A, polypeptide 5 NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166) CCTCACCTTATTGGGCAAAAC 0.458000 198 455 0 0 1 0 0 SNED1 25992 broad.mit.edu 37 2 241991878 241991878 + Silent SNP C C T TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr2:241991878C>T ENST00000310397.8 + 15 2076 c.2076C>T c.(2074-2076)tgC>tgT p.C692C SNED1_ENST00000401884.1_Silent_p.C692C|AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000405547.3_Silent_p.C692C|SNED1_ENST00000469006.1_3'UTR|SNED1_ENST00000342631.6_Silent_p.C692C NM_001080437.1 NP_001073906.1 Q8TER0 SNED1_HUMAN sushi, nidogen and EGF-like domains 1 692 EGF-like 10. cell-matrix adhesion extracellular region calcium ion binding NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1) 24 all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109) GACGCCGGTGCCAGGCAGGTG 0.637000 13 269 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625877 29625877 + Missense_Mutation SNP G G A rs7266938 by1000genomes TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c 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 25 627 0 0 1 0 0 SMAD4 4089 broad.mit.edu 37 18 48604736 48604736 + Nonsense_Mutation SNP G G T TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr18:48604736G>T ENST00000342988.3 + 12 2096 c.1558G>T c.(1558-1560)Gaa>Taa p.E520* SMAD4_ENST00000588745.1_Nonsense_Mutation_p.E424*|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.E520*|SMAD4_ENST00000586253.1_3'UTR NM_005359.5 NP_005350.1 Q13485 SMAD4_HUMAN SMAD family member 4 520 MH2. BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(36)|p.?(2)|p.E520*(1) NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1) 454 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) GAGCATCAAAGAAACACCTTG 0.488000 124 202 5.83743e-79 6.41397e-79 1 1 0 FYCO1 79443 broad.mit.edu 37 3 46008034 46008034 + Missense_Mutation SNP T T C TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr3:46008034T>C ENST00000296137.2 - 8 2997 c.2792A>G c.(2791-2793)cAg>cGg p.Q931R FYCO1_ENST00000535325.1_Missense_Mutation_p.Q931R NM_024513.3 NP_078789.2 Q9BQS8 FYCO1_HUMAN FYVE and coiled-coil domain containing 1 931 transport integral to membrane metal ion binding|protein binding NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 54 BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323) CTGGAGCTCCTGGACAGCACA 0.627000 51 436 0 0 1 0 0 PHF13 148479 broad.mit.edu 37 1 6680069 6680071 + In_Frame_Del DEL GAA GAA - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c 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 9 455 --- --- --- --- MST1L 0 broad.mit.edu 37 1 17084730 17084730 + RNA DEL G G - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr1:17084730delG ENST00000455405.2 - 0 286 p.R494fs*37(1) AAGCACTGCCGGGCAGTCAGT 0.582 9 94 --- --- --- --- PADI6 353238 broad.mit.edu 37 1 17721722 17721723 + RNA DEL GA GA - rs58784721 TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr1:17721722_17721723delGA ENST00000434762.2 + 0 1545 Q6TGC4 PADI6_HUMAN peptidyl arginine deiminase, type VI peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) tttgttttttgagagtcttgct 0.485 13 65 --- --- --- --- ZMPSTE24 10269 broad.mit.edu 37 1 40756542 40756543 + Frame_Shift_Ins INS - - T rs137854889 TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr1:40756542_40756543insT ENST00000372759.3 + 9 1241_1242 c.1076_1077insT c.(1075-1077)tttfs p.F359fs NM_005857.4 NP_005848.2 O75844 FACE1_HUMAN zinc metallopeptidase STE24 359 endoplasmic reticulum membrane|Golgi membrane|integral to membrane metal ion binding|metalloexopeptidase activity endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1) 16 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;6.3e-18) TCTTTCCTGTGTTTTTTTTTAT 0.332 10 451 --- --- --- --- B4GALT2 8704 broad.mit.edu 37 1 44447007 44447009 + In_Frame_Del DEL AGC AGC - rs72406230 TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr1:44447007_44447009delAGC ENST00000356836.6 + 2 965_967 c.175_177delAGC c.(175-177)del p.S65del B4GALT2_ENST00000372324.1_In_Frame_Del_p.S65del|B4GALT2_ENST00000434555.2_In_Frame_Del_p.LA7del|B4GALT2_ENST00000309519.7_In_Frame_Del_p.S94del NM_001005417.2|NM_030587.2 NP_001005417.1|NP_085076.2 O60909 B4GT2_HUMAN UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2 65 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 17 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) N-Acetyl-D-glucosamine(DB00141) CCCAGCTGCTagcagcagcagca 0.685 9 473 --- --- --- --- CYP4Z2P 0 broad.mit.edu 37 1 47325282 47325282 + RNA DEL A A - rs10712628 TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr1:47325282delA ENST00000505841.1 - 0 1204 NR_002788.2 ATTTCAATCCAAACATAGCTG 0.393 8 275 --- --- --- --- DMRTB1 63948 broad.mit.edu 37 1 53930351 53930353 + In_Frame_Del DEL GCC GCC - rs75818218 TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr1:53930351_53930353delGCC ENST00000371445.3 + 3 847_849 c.792_794delGCC c.(790-795)ctg>ct p.LP264del DMRTB1_ENST00000463126.1_3'UTR NM_033067.1 NP_149056.1 Q96MA1 DMRTB_HUMAN DMRT-like family B with proline-rich C-terminal, 1 264 Pro-rich. sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity large_intestine(3)|lung(5)|ovary(1)|skin(1) 10 GCTACTACCTgccgccgccgccg 0.670 7 459 --- --- --- --- ST6GALNAC5 81849 broad.mit.edu 37 1 77334277 77334279 + In_Frame_Del DEL GCA GCA - rs113832855 TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr1:77334277_77334279delGCA ENST00000477717.1 + 2 346_348 c.111_113delGCA c.(109-114)ccg>cc p.PQ37del ST6GALNAC5_ENST00000496845.1_3'UTR NM_030965.1 NP_112227.1 Q9BVH7 SIA7E_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 37 protein glycosylation integral to Golgi membrane sialyltransferase activity endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1) 18 AGCGGCCCCCgcagcagcagcag 0.700 11 184 --- --- --- --- BCL10 8915 broad.mit.edu 37 1 85736511 85736511 + Frame_Shift_Del DEL T T - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr1:85736511delT ENST00000370580.1 - 2 873 c.136delA c.(136-138)tafs p.I46fs NM_003921.4 NP_003912.1 O95999 BCL10_HUMAN B-cell CLL/lymphoma 10 46 CARD. apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin|T cell receptor signaling pathway CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding p.I46fs*4(1) haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 19 all cancers(265;0.0114)|Epithelial(280;0.0311) CTACTGAGTATTTTTTTTGCA 0.343 T IGH@ MALT 15 722 --- --- --- --- GBP5 115362 broad.mit.edu 37 1 89732166 89732166 + Frame_Shift_Del DEL T T - rs34148688 TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr1:89732166delT ENST00000343435.5 - 7 1267 c.731delA c.(730-732)agfs p.K244fs RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000370459.3_Frame_Shift_Del_p.K244fs|GBP5_ENST00000481145.1_5'UTR NM_001134486.2|NM_052942.3 NP_001127958.1|NP_443174.1 Q96PP8 GBP5_HUMAN guanylate binding protein 5 244 plasma membrane GTP binding|GTPase activity breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1) 24 all cancers(265;0.00784)|Epithelial(280;0.0286) TTGGGCAAGCTTTTTTTGGTG 0.388 7 1037 --- --- --- --- FNDC7 163479 broad.mit.edu 37 1 109276138 109276138 + Frame_Shift_Del DEL A A - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr1:109276138delA ENST00000370017.3 + 10 2401 c.2124delA c.(2122-2124)ccfs p.P708fs FNDC7_ENST00000271311.2_Frame_Shift_Del_p.P709fs NM_001144937.1 NP_001138409.1 Q5VTL7 FNDC7_HUMAN fibronectin type III domain containing 7 709 Fibronectin type-III 8. extracellular region p.I478fs*4(1) breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1) 20 all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728) Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244) CTTTCTGTCCAAAAAAAATAT 0.363 8 462 --- --- --- --- NGF 4803 broad.mit.edu 37 1 115828721 115828722 + Frame_Shift_Del DEL CA CA - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr1:115828721_115828722delCA ENST00000369512.2 - 3 863_864 c.695_696delTG c.(694-696)gfs p.V232fs RP4-663N10.1_ENST00000425449.1_RNA NM_002506.2 NP_002497.2 P01138 NGF_HUMAN nerve growth factor (beta polypeptide) 232 activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|Golgi lumen growth factor activity|nerve growth factor receptor binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 13 Lung SC(450;0.211) all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179) Clenbuterol(DB01407) TCCTGCTGAGCACACACACACA 0.579 10 584 --- --- --- --- NOTCH2 4853 broad.mit.edu 37 1 120612003 120612004 + Frame_Shift_Del DEL GG GG - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr1:120612003_120612004delGG ENST00000256646.2 - 1 236_237 c.17_18delCC c.(16-18)cfs p.P6fs NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 6 anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity p.P6fs*27(2) breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) ACAGCAGAGCGGGGCGCAGGGC 0.762 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 18 84 --- --- --- --- RP11-343N15.1 0 broad.mit.edu 37 1 121116645 121116645 + RNA DEL T T - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr1:121116645delT ENST00000437515.1 - 0 329 CAAGCCCCCCTTTAAAAAAAA 0.393 12 313 --- --- --- --- RP11-343N15.1 0 broad.mit.edu 37 1 121137698 121137699 + RNA INS - - TT rs57730437 TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr1:121137698_121137699insTT ENST00000437515.1 - 0 329 CTACTTACATCTTTTTGTCTTT 0.441 24 154 --- --- --- --- RP11-417J8.6 0 broad.mit.edu 37 1 142713977 142713977 + RNA DEL T T - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr1:142713977delT ENST00000369381.2 - 0 628 ATCCATATACTAAAAAGGTTA 0.294 11 97 --- --- --- --- ANKRD20A12P 0 broad.mit.edu 37 1 142720897 142720898 + RNA INS - - A TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr1:142720897_142720898insA ENST00000595144.1 - 0 204_205 GCTCTTCCTCTAAGCCACTGGT 0.277 15 134 --- --- --- --- PGLYRP4 57115 broad.mit.edu 37 1 153318579 153318579 + Splice_Site DEL T T - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr1:153318579delT ENST00000368739.3 - 3 496 c.139_splice c.e3+1 p.K46_splice PGLYRP4_ENST00000490266.1_5'UTR|PGLYRP4_ENST00000359650.5_Splice_Site_p.K46_splice Q96LB8 PGRP4_HUMAN peptidoglycan recognition protein 4 46 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1) 23 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) CCAGTTTACCTTTTTCAGTGA 0.468 7 1956 --- --- --- --- PBXIP1 57326 broad.mit.edu 37 1 154917508 154917510 + In_Frame_Del DEL GGT GGT - rs143592003 TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr1:154917508_154917510delGGT ENST00000368463.3 - 11 2257_2259 c.2186_2188delACC c.(2185-2190)cgg>c p.HR729del PBXIP1_ENST00000368465.1_In_Frame_Del_p.HR700del|PBXIP1_ENST00000542459.1_In_Frame_Del_p.HR574del|PBXIP1_ENST00000539880.1_In_Frame_Del_p.HR556del NM_020524.2 NP_065385.2 Q96AQ6 PBIP1_HUMAN pre-B-cell leukemia homeobox interacting protein 1 729 His-rich. cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent cytosol|microtubule|nucleus protein binding|transcription corepressor activity breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1) 24 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) TGTCAGCCCCGGTGGTGGTGGTG 0.640 9 630 --- --- --- --- PVRL4 81607 broad.mit.edu 37 1 161044057 161044059 + In_Frame_Del DEL CAC CAC - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr1:161044057_161044059delCAC ENST00000368012.3 - 6 1407_1409 c.1105_1107delGTG c.(1105-1107)del p.V369del PVRL4_ENST00000453926.2_In_Frame_Del_p.V103del NM_030916.2 NP_112178.2 Q96NY8 PVRL4_HUMAN poliovirus receptor-related 4 369 adherens junction organization|cell adhesion|cell junction assembly adherens junction|extracellular region|integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1) 20 all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) GGGACATGAGCACCACCACCACC 0.571 8 607 --- --- --- --- PCP4L1 654790 broad.mit.edu 37 1 161254154 161254156 + In_Frame_Del DEL GGA GGA - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr1:161254154_161254156delGGA ENST00000504449.1 + 3 338_340 c.90_92delGGA c.(88-93)gcg>gc p.AE30del NM_001102566.1 NP_001096036.1 A6NKN8 PC4L1_HUMAN Purkinje cell protein 4 like 1 30 p.A30A(1)|p.E35delE(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(1) 4 all_cancers(52;4.16e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) TCAAGAAGGCGGAGGAGGAGGAG 0.488 7 725 --- --- --- --- DHX9 1660 broad.mit.edu 37 1 182845333 182845333 + Frame_Shift_Del DEL T T - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr1:182845333delT ENST00000367549.3 + 17 2074 c.1964delT c.(1963-1965)gtfs p.V655fs NM_001357.4 NP_001348.2 Q08211 DHX9_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 9 655 Helicase C-terminal. CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 49 GCTGTGTTGGTTTTTTTGCCT 0.378 8 1315 --- --- --- --- DYRK3 8444 broad.mit.edu 37 1 206821441 206821441 + Frame_Shift_Del DEL A A - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr1:206821441delA ENST00000367106.1 + 4 1311 c.838delA c.(838-840)aafs p.K281fs DYRK3_ENST00000367109.2_Frame_Shift_Del_p.K301fs|DYRK3_ENST00000367108.3_Frame_Shift_Del_p.K281fs|DYRK3_ENST00000489878.1_Intron O43781 DYRK3_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3 301 Protein kinase. erythrocyte differentiation nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2) 25 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.166) TGAGCTGATTAAAAAAAATAA 0.403 9 1104 --- --- --- --- MTR 4548 broad.mit.edu 37 1 237024474 237024474 + Frame_Shift_Del DEL A A - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c 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 19 617 --- --- --- --- SMC6 79677 broad.mit.edu 37 2 17898126 17898126 + Frame_Shift_Del DEL T T - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr2:17898126delT ENST00000448223.2 - 14 1497 c.1228delA c.(1228-1230)tafs p.I410fs SMC6_ENST00000402989.1_Frame_Shift_Del_p.I410fs|SMC6_ENST00000381272.4_Frame_Shift_Del_p.I436fs|SMC6_ENST00000351948.4_Frame_Shift_Del_p.I410fs NM_001142286.1 NP_001135758.1 Q96SB8 SMC6_HUMAN structural maintenance of chromosomes 6 410 DNA recombination|DNA repair chromosome|nucleus ATP binding NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 43 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) AACCAAGATATTTTTTTTTGT 0.343 10 301 --- --- --- --- OTOF 9381 broad.mit.edu 37 2 26693554 26693556 + In_Frame_Del DEL CTT CTT - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr2:26693554_26693556delCTT ENST00000272371.2 - 32 4054_4056 c.3928_3930delAAG c.(3928-3930)del p.K1310del OTOF_ENST00000403946.3_In_Frame_Del_p.K1310del|OTOF_ENST00000339598.3_In_Frame_Del_p.K543del|OTOF_ENST00000338581.6_In_Frame_Del_p.K543del|OTOF_ENST00000402415.3_In_Frame_Del_p.K620del NM_194248.2 NP_919224.1 Q9HC10 OTOF_HUMAN otoferlin 1310 Poly-Lys. cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCGCAGTGCCcttcttcttcttc 0.576 10 541 --- --- --- --- RMDN2 151393 broad.mit.edu 37 2 38178783 38178783 + Frame_Shift_Del DEL T T - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr2:38178783delT ENST00000407257.1 + 2 572 c.425delT c.(424-426)atfs p.I142fs RMDN2_ENST00000402091.3_Frame_Shift_Del_p.I142fs|RMDN2_ENST00000354545.2_Intron|RMDN2_ENST00000234195.3_Frame_Shift_Del_p.I142fs|RMDN2_ENST00000417700.2_Intron|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000406384.1_Intron regulator of microtubule dynamics 2 AAGAGTGCCATTTTTTTTGAT 0.333 8 671 --- --- --- --- DHX57 90957 broad.mit.edu 37 2 39095411 39095413 + In_Frame_Del DEL CCA CCA - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr2:39095411_39095413delCCA ENST00000295373.6 - 2 261_263 c.135_137delTGG c.(133-138)gga>gg p.GG47del NM_198963.1 NP_945314.1 Q6P158 DHX57_HUMAN DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 47 Gly-rich. ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_hematologic(82;0.248) Gccgccacctccaccaccaccac 0.532 7 608 --- --- --- --- AFTPH 54812 broad.mit.edu 37 2 64778672 64778674 + In_Frame_Del DEL GAT GAT - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr2:64778672_64778674delGAT ENST00000422803.1 + 2 378_380 c.64_66delGAT c.(64-66)del p.D26del AFTPH_ENST00000238855.7_In_Frame_Del_p.D26del|AFTPH_ENST00000238856.4_In_Frame_Del_p.D26del|AFTPH_ENST00000409933.1_In_Frame_Del_p.D26del Q6ULP2 AFTIN_HUMAN aftiphilin 26 protein transport AP-1 adaptor complex|cytosol|nucleus clathrin binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 35 TGGAGCAGAGGATGATGATGATG 0.409 8 1116 --- --- --- --- RAB11FIP5 26056 broad.mit.edu 37 2 73315337 73315339 + In_Frame_Del DEL TGG TGG - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c 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 1013 --- --- --- --- LOXL3 84695 broad.mit.edu 37 2 74763923 74763924 + Frame_Shift_Ins INS - - C TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr2:74763923_74763924insC ENST00000264094.3 - 5 895_896 c.824_825insG c.(823-825)gccfs p.A275fs LOXL3_ENST00000409986.1_Intron|LOXL3_ENST00000409549.1_Frame_Shift_Ins_p.A275fs|LOXL3_ENST00000393937.2_Intron|LOXL3_ENST00000409249.1_Frame_Shift_Ins_p.A275fs NM_032603.2 NP_115992.1 P58215 LOXL3_HUMAN lysyl oxidase-like 3 275 SRCR 2. extracellular space|membrane copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity p.A277fs*57(1) endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 30 CCACTGCAGGGCCCCCCCCAGG 0.649 9 648 --- --- --- --- ANKRD36BP2 0 broad.mit.edu 37 2 89082220 89082223 + RNA DEL TGAT TGAT - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr2:89082220_89082223delTGAT ENST00000393525.3 + 0 474 TGTGTACATATGATTGATTATGTA 0.328 7 217 --- --- --- --- IGKV1D-8 0 broad.mit.edu 37 2 90259860 90259861 + RNA INS - - C TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr2:90259860_90259861insC ENST00000471857.1 + 0 236 AATTTACTCAGCCAATGTGCTC 0.480 14 941 --- --- --- --- AC027612.3 0 broad.mit.edu 37 2 91887905 91887906 + RNA INS - - T TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr2:91887905_91887906insT ENST00000436174.1 - 0 540 GCTATTTTCCATTTTTTTTTTT 0.292 7 404 --- --- --- --- ANKRD20A8P 0 broad.mit.edu 37 2 95519511 95519512 + RNA INS - - TACT TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr2:95519511_95519512insTACT ENST00000432432.2 - 0 316 NR_040113.1 TTCAAAACAAATAATTTTTTTG 0.307 7 156 --- --- --- --- ANKRD36C 400986 broad.mit.edu 37 2 96521448 96521449 + Frame_Shift_Ins INS - - A rs113448291 TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr2:96521448_96521449insA ENST00000456556.1 - 63 4644_4645 c.4560_4561insT c.(4558-4563)gcagagfs p.E1521fs ANKRD36C_ENST00000419039.2_Frame_Shift_Ins_p.E548fs|ANKRD36C_ENST00000420871.2_Frame_Shift_Ins_p.E772fs ankyrin repeat domain 36C breast(1)|endometrium(8)|kidney(5)|lung(4) 18 AACTTACTCTCAGCTTTAGAAA 0.406 7 314 --- --- --- --- SULT1C3 442038 broad.mit.edu 37 2 108863685 108863685 + Frame_Shift_Del DEL A A - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr2:108863685delA ENST00000329106.2 + 1 35 c.35delA c.(34-36)gafs p.E12fs SULT1C3_ENST00000376700.1_Frame_Shift_Del_p.E12fs NM_001008743.1 NP_001008743.1 Q6IMI6 ST1C3_HUMAN sulfotransferase family, cytosolic, 1C, member 3 12 cytoplasm alcohol sulfotransferase activity breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4) 16 CCCACGATGGAAAAAAAGCCA 0.353 7 683 --- --- --- --- GCC2 9648 broad.mit.edu 37 2 109087883 109087884 + Frame_Shift_Ins INS - - A TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr2:109087883_109087884insA ENST00000309863.6 + 6 2812_2813 c.2098_2099insA c.(2098-2100)aaafs p.K700fs NM_181453.3 NP_852118.1 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain containing 2 700 Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 ACTCAGTTCAGAAAAAAAACAG 0.307 15 1604 --- --- --- --- GCC2 9648 broad.mit.edu 37 2 109087914 109087914 + Frame_Shift_Del DEL T T - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr2:109087914delT ENST00000309863.6 + 6 2843 c.2129delT c.(2128-2130)gtfs p.V710fs NM_181453.3 NP_852118.1 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain containing 2 710 Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 GATTTGGAGGTTTTTTTGTCT 0.299 7 1663 --- --- --- --- FOXD4L1 200350 broad.mit.edu 37 2 114257058 114257059 + In_Frame_Ins INS - - GGC TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr2:114257058_114257059insGGC ENST00000306507.5 + 1 398_399 c.225_226insGGC c.(223-228)gagcgg>gaGGCgcgg p.75_76ER>EAR NM_012184.4 NP_036316.1 Q9NU39 FX4L1_HUMAN forkhead box D4-like 1 75 axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|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 p.G76C(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2) 26 AGCACATCGAGGGCGGCGGCCC 0.708 8 65 --- --- --- --- CSRNP3 80034 broad.mit.edu 37 2 166535616 166535618 + In_Frame_Del DEL GAG GAG - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr2:166535616_166535618delGAG ENST00000314499.7 + 7 1487_1489 c.1111_1113delGAG c.(1111-1113)del p.E383del CSRNP3_ENST00000342316.4_In_Frame_Del_p.E383del|CSRNP3_ENST00000409420.1_In_Frame_Del_p.E415del NM_001172173.1 NP_001165644.1 Q8WYN3 CSRN3_HUMAN cysteine-serine-rich nuclear protein 3 383 Glu-rich. apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.E371D(1) breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2) 33 TGAGTCAGACgaggaggaggagg 0.542 7 525 --- --- --- --- SCN9A 6335 broad.mit.edu 37 2 167055992 167055992 + Frame_Shift_Del DEL T T - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr2:167055992delT ENST00000303354.6 - 27 5500 c.5160delA c.(5158-5160)aafs p.K1720fs AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Frame_Shift_Del_p.K1708fs|SCN9A_ENST00000409435.1_Frame_Shift_Del_p.K1719fs|SCN9A_ENST00000375387.4_Frame_Shift_Del_p.K1720fs 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 8 1881 --- --- --- --- KLHL41 10324 broad.mit.edu 37 2 170366496 170366496 + Frame_Shift_Del DEL A A - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr2:170366496delA ENST00000284669.1 + 1 285 c.208delA c.(208-210)aafs p.K72fs BBS5_ENST00000554017.1_Intron|RP11-724O16.1_ENST00000513963.1_Intron NM_006063.2 NP_006054.2 kelch-like family member 41 TGATGAGGCGAAAAAAAAGGA 0.388 16 1033 --- --- --- --- CIR1 9541 broad.mit.edu 37 2 175213712 175213713 + Frame_Shift_Ins INS - - T TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr2:175213712_175213713insT ENST00000342016.3 - 10 957_958 c.865_866insA c.(865-867)acafs p.T289fs CIR1_ENST00000362053.5_3'UTR NM_004882.3 NP_004873.3 Q86X95 CIR1_HUMAN corepressor interacting with RBPJ, 1 289 Lys/Ser-rich. mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing nuclear speck protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1) 15 cttcctttgtatttttttttct 0.381 10 475 --- --- --- --- HIBCH 26275 broad.mit.edu 37 2 191161629 191161629 + Frame_Shift_Del DEL T T - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr2:191161629delT ENST00000392332.3 - 3 268 c.129delA c.(127-129)aafs p.K43fs HIBCH_ENST00000359678.5_Frame_Shift_Del_p.K43fs Q6NVY1 HIBCH_HUMAN 3-hydroxyisobutyryl-CoA hydrolase 43 branched chain family amino acid catabolic process mitochondrial matrix 3-hydroxyisobutyryl-CoA hydrolase activity|protein binding NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814) CCGTGCAACCTTTTTTTTCCA 0.353 7 337 --- --- --- --- GTF3C3 9330 broad.mit.edu 37 2 197649613 197649614 + Frame_Shift_Ins INS - - T TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c 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 9 285 --- --- --- --- SGOL2 151246 broad.mit.edu 37 2 201437003 201437004 + Frame_Shift_Ins INS - - T TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr2:201437003_201437004insT ENST00000357799.4 + 7 2032_2033 c.1934_1935insT c.(1933-1935)attfs p.I645fs NM_001160033.1|NM_001160046.1|NM_152524.5 NP_001153505.1|NP_001153518.1|NP_689737.4 Q562F6 SGOL2_HUMAN shugoshin-like 2 (S. pombe) 645 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|mitotic cohesin complex protein binding NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 46 AAAAAAGGTAATTTTTTTTTCA 0.337 8 876 --- --- --- --- CYP20A1 57404 broad.mit.edu 37 2 204150380 204150380 + Frame_Shift_Del DEL A A - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr2:204150380delA ENST00000356079.4 + 9 1019 c.896delA c.(895-897)cafs p.Q299fs CYP20A1_ENST00000429815.2_Frame_Shift_Del_p.Q307fs|CYP20A1_ENST00000461371.1_3'UTR 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 10 599 --- --- --- --- TRPM8 79054 broad.mit.edu 37 2 234879009 234879010 + Frame_Shift_Ins INS - - C TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr2:234879009_234879010insC ENST00000324695.4 + 17 2334_2335 c.2294_2295insC c.(2293-2295)cccfs p.P765fs TRPM8_ENST00000433712.2_Intron NM_024080.4 NP_076985.4 Q7Z2W7 TRPM8_HUMAN transient receptor potential cation channel, subfamily M, member 8 765 integral to membrane breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2) 66 Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224) Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108) Menthol(DB00825) TCGGTGCCACACCCCCCCGAGC 0.574 13 2079 --- --- --- --- GAL3ST2 64090 broad.mit.edu 37 2 242738494 242738496 + In_Frame_Del DEL TCC TCC - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c 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 10 467 --- --- --- --- EDEM1 9695 broad.mit.edu 37 3 5248941 5248941 + Frame_Shift_Del DEL T T - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr3:5248941delT ENST00000256497.4 + 7 1454 c.1321delT c.(1321-1323)ttfs p.F442fs EDEM1_ENST00000445686.1_Frame_Shift_Del_p.F247fs NM_014674.2 NP_055489.1 Q92611 EDEM1_HUMAN ER degradation enhancer, mannosidase alpha-like 1 442 ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein integral to endoplasmic reticulum membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682) TCTGCAGGCCTTTTTCCCTGG 0.463 8 719 --- --- --- --- CLASP2 23122 broad.mit.edu 37 3 33602361 33602361 + Frame_Shift_Del DEL T T - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr3:33602361delT ENST00000399362.4 - 28 3243 c.2890delA c.(2890-2892)tgfs p.M964fs CLASP2_ENST00000468888.2_Frame_Shift_Del_p.M965fs|CLASP2_ENST00000539981.1_Frame_Shift_Del_p.M734fs|CLASP2_ENST00000461133.3_Frame_Shift_Del_p.M724fs|CLASP2_ENST00000359576.5_Frame_Shift_Del_p.M956fs|CLASP2_ENST00000307312.7_Frame_Shift_Del_p.M446fs|CLASP2_ENST00000480013.1_Frame_Shift_Del_p.M744fs NM_015097.2 NP_055912.2 B2RTR1 B2RTR1_HUMAN cytoplasmic linker associated protein 2 966 breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 48 TCAGCACCCATTTTTTTTAGT 0.343 8 863 --- --- --- --- NKTR 4820 broad.mit.edu 37 3 42679486 42679486 + Frame_Shift_Del DEL A A - rs150528581 byFrequency TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr3:42679486delA ENST00000232978.8 + 13 2478 c.2290delA c.(2290-2292)aafs p.K765fs RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA NM_005385.3 NP_005376.2 P30414 NKTR_HUMAN natural killer-tumor recognition sequence 765 Arg/Ser-rich. protein folding membrane cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 41 KIRC - Kidney renal clear cell carcinoma(284;0.24) ATCCAGTGGGAAAAAAAATAG 0.378 10 593 --- --- --- --- ANO10 55129 broad.mit.edu 37 3 43647213 43647213 + Frame_Shift_Del DEL T T - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr3:43647213delT ENST00000292246.3 - 2 302 c.132delA c.(130-132)aafs p.K44fs ANO10_ENST00000350459.4_Frame_Shift_Del_p.K44fs|ANO10_ENST00000396091.3_Frame_Shift_Del_p.K44fs|ANO10_ENST00000451430.2_Frame_Shift_Del_p.K44fs|ANO10_ENST00000414522.2_Frame_Shift_Del_p.K44fs NM_018075.3 NP_060545.3 Q9NW15 ANO10_HUMAN anoctamin 10 44 cell death chloride channel complex chloride channel activity NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3) 29 CACCTCCATCTTTTTTTTTAG 0.408 12 435 --- --- --- --- CACNA1D 776 broad.mit.edu 37 3 53529193 53529195 + Translation_Start_Site DEL GAT GAT - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr3:53529193_53529195delGAT ENST00000288139.3 + 0 118_120 CACNA1D_ENST00000350061.5_Start_Codon_Del|CACNA1D_ENST00000422281.2_Start_Codon_Del NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) aatgttcgtGgatgatgatgatg 0.581 9 625 --- --- --- --- DNAH12 201625 broad.mit.edu 37 3 57509313 57509313 + Frame_Shift_Del DEL T T - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr3:57509313delT ENST00000351747.2 - 4 456 c.276delA c.(274-276)aafs p.K92fs DNAH12_ENST00000389536.4_Frame_Shift_Del_p.K92fs|DNAH12_ENST00000311202.6_Frame_Shift_Del_p.K92fs NM_178504.4 NP_848599.3 Q6ZR08 DYH12_HUMAN dynein, axonemal, heavy chain 12 92 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity p.G93fs*7(2) breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1) 25 AACTCACTCCTTTTTTTTTCA 0.254 7 146 --- --- --- --- ROBO2 6092 broad.mit.edu 37 3 77595588 77595588 + Frame_Shift_Del DEL T T - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr3:77595588delT ENST00000461745.1 + 7 1934 c.1034delT c.(1033-1035)gtfs p.V345fs ROBO2_ENST00000332191.8_Frame_Shift_Del_p.V345fs|ROBO2_ENST00000487694.3_Frame_Shift_Del_p.V361fs NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 345 Ig-like C2-type 4. apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) CAGCCAGCTGTTTTTTGGCAG 0.488 8 1847 --- --- --- --- FILIP1L 11259 broad.mit.edu 37 3 99568272 99568273 + Frame_Shift_Ins INS - - T TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr3:99568272_99568273insT ENST00000331335.5 - 5 2717_2718 c.2247_2248insA c.(2245-2250)aataaafs p.NK749fs CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000487087.1_Frame_Shift_Ins_p.NK325fs|FILIP1L_ENST00000471562.1_Frame_Shift_Ins_p.NK509fs|FILIP1L_ENST00000354552.3_Frame_Shift_Ins_p.NK749fs|FILIP1L_ENST00000476723.1_Intron|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000383694.2_Frame_Shift_Ins_p.NK509fs NM_001042459.1 NP_001035924.1 Q4L180 FIL1L_HUMAN filamin A interacting protein 1-like 749 cytoplasm|membrane|myosin complex|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 35 TGTTGATTTAGTTTTTTTTGCA 0.406 11 961 --- --- --- --- KIAA2018 205717 broad.mit.edu 37 3 113380090 113380090 + Frame_Shift_Del DEL T T - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr3:113380090delT ENST00000316407.4 - 7 849 c.439delA c.(439-441)ttfs p.I148fs KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Frame_Shift_Del_p.I148fs NM_001009899.2 NP_001009899.2 Q68DE3 K2018_HUMAN KIAA2018 148 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 80 TAAACAATAATTTTTTTTTGA 0.373 9 715 --- --- --- --- RP11-167H9.4 0 broad.mit.edu 37 3 149769296 149769296 + RNA DEL C C - rs59377959 TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr3:149769296delC ENST00000487840.1 + 0 46 TTCCTGGTGTCtttttttttt 0.463 9 465 --- --- --- --- MB21D2 151963 broad.mit.edu 37 3 192516280 192516280 + Frame_Shift_Del DEL T T - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr3:192516280delT ENST00000392452.2 - 2 1691 c.1371delA c.(1369-1371)aafs p.K457fs NM_178496.3 NP_848591.2 Q8IYB1 M21D2_HUMAN Mab-21 domain containing 2 457 endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 31 GCTGCTGCAGTTTTTTTGCCA 0.512 7 896 --- --- --- --- LINC00969 0 broad.mit.edu 37 3 195400639 195400641 + RNA DEL GTG GTG - rs145880653 TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr3:195400639_195400641delGTG ENST00000445430.1 + 0 1284 AGGTGGGCTTGTGGAGGAATGGG 0.552 9 63 --- --- --- --- TACC3 10460 broad.mit.edu 37 4 1730308 1730308 + Frame_Shift_Del DEL C C - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr4:1730308delC ENST00000313288.4 + 4 1285 c.1179delC c.(1177-1179)gafs p.D393fs NM_006342.2 NP_006333.1 Q9Y6A5 TACC3_HUMAN transforming, acidic coiled-coil containing protein 3 393 centrosome p.M396fs*17(1) central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Breast(71;0.212)|all_epithelial(65;0.241) OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126) CAGGAGAGGACCCCCCCATGC 0.612 7 619 --- --- --- --- OTOP1 133060 broad.mit.edu 37 4 4204225 4204229 + Frame_Shift_Del DEL TTGAG TTGAG - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr4:4204225_4204229delTTGAG ENST00000296358.4 - 4 700_704 c.676_680delCTCAA c.(676-681)tfs p.LN226fs NM_177998.1 NP_819056.1 Q7RTM1 OTOP1_HUMAN otopetrin 1 226 biomineral tissue development extracellular space|integral to membrane p.L226fs*1(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CTTGTGCTCATTGAGTTGGTGCTTT 0.502 15 662 --- --- --- --- KLF3 51274 broad.mit.edu 37 4 38691476 38691476 + Frame_Shift_Del DEL C C - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr4:38691476delC ENST00000261438.5 + 4 976 c.671delC c.(670-672)tcfs p.S224fs KLF3_ENST00000514033.1_Frame_Shift_Del_p.S224fs NM_016531.5 NP_057615.3 P57682 KLF3_HUMAN Kruppel-like factor 3 (basic) 224 Pro-rich. multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 18 AACTCAGTGTCCCCCCCGCAA 0.423 7 964 --- --- --- --- UBA6 55236 broad.mit.edu 37 4 68530906 68530907 + Splice_Site INS - - A TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr4:68530906_68530907insA ENST00000322244.4 - 10 956_957 c.e10+1 UBA6_ENST00000420827.2_Splice_Site NM_018227.5 NP_060697.4 A0AVT1 UBA6_HUMAN ubiquitin-like modifier activating enzyme 6 protein ubiquitination|ubiquitin-dependent protein catabolic process cytoplasm ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2) 44 AAAATACTTACAAAAAAAACTG 0.322 8 316 --- --- --- --- PRDM8 56978 broad.mit.edu 37 4 81123250 81123252 + In_Frame_Del DEL CAG CAG - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c 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) 15 410 --- --- --- --- NAP1L5 266812 broad.mit.edu 37 4 89618431 89618433 + In_Frame_Del DEL CCT CCT - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr4:89618431_89618433delCCT ENST00000323061.5 - 1 953_955 c.473_475delAGG c.(472-477)gct>g p.EA158del HERC3_ENST00000543130.1_Intron|HERC3_ENST00000264345.3_Intron|HERC3_ENST00000402738.1_Intron NM_153757.2 NP_715638.1 Q96NT1 NP1L5_HUMAN nucleosome assembly protein 1-like 5 158 Glu-rich. nucleosome assembly nucleus protein binding endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 7 OV - Ovarian serous cystadenocarcinoma(123;0.000181) TCTGCCGCAGcctcctcctcctc 0.626 10 906 --- --- --- --- MMRN1 22915 broad.mit.edu 37 4 90844391 90844393 + In_Frame_Del DEL AGC AGC - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr4:90844391_90844393delAGC ENST00000394980.1 + 5 1242_1244 c.923_925delAGC c.(922-927)gag>g p.EQ308del MMRN1_ENST00000264790.2_In_Frame_Del_p.EQ308del|MMRN1_ENST00000394981.1_In_Frame_Del_p.EQ274del|MMRN1_ENST00000508372.1_In_Frame_Del_p.EQ50del Q13201 MMRN1_HUMAN multimerin 1 308 cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2) 72 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) GGAGTAGCTGAGCAGCAGCAGCA 0.448 9 1658 --- --- --- --- CXXC4 80319 broad.mit.edu 37 4 105412465 105412467 + In_Frame_Del DEL GCC GCC - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr4:105412465_105412467delGCC ENST00000394767.2 - 2 943_945 c.493_495delGGC c.(493-495)del p.G165del AC004053.1_ENST00000500179.1_RNA|CXXC4_ENST00000466963.1_Intron|CXXC4_ENST00000426831.1_5'UTR NM_025212.2 NP_079488.2 Q9H2H0 CXXC4_HUMAN CXXC finger protein 4 0 Interaction with DVL1 (By similarity). negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis DNA binding|PDZ domain binding|zinc ion binding kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(123;3.05e-08) TGGTCCTgctgccgccgccgccg 0.695 13 563 --- --- --- --- NPNT 255743 broad.mit.edu 37 4 106863682 106863684 + In_Frame_Del DEL CCA CCA - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr4:106863682_106863684delCCA ENST00000379987.2 + 8 1198_1200 c.982_984delCCA c.(982-984)del p.P333del NPNT_ENST00000506666.1_In_Frame_Del_p.P363del|NPNT_ENST00000427316.2_In_Frame_Del_p.P363del|NPNT_ENST00000453617.2_In_Frame_Del_p.P350del|NPNT_ENST00000514622.1_In_Frame_Del_p.P333del|NPNT_ENST00000305572.8_In_Frame_Del_p.P333del 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 12 616 --- --- --- --- PCDH10 57575 broad.mit.edu 37 4 134073569 134073571 + In_Frame_Del DEL CTG CTG - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr4:134073569_134073571delCTG ENST00000264360.4 + 1 3100_3102 c.2274_2276delCTG c.(2272-2277)ctc>ct p.LC758del NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 758 Cys-rich. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) ATTGCTGCCTCTGCTGCTGCTGC 0.581 8 294 --- --- --- --- OTUD4 54726 broad.mit.edu 37 4 146077123 146077125 + In_Frame_Del DEL CAG CAG - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr4:146077123_146077125delCAG ENST00000454497.2 - 8 595_597 c.458_460delCTG c.(457-462)gat>g p.AD153del OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_In_Frame_Del_p.AD218del 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 7 416 --- --- --- --- FAM198B 51313 broad.mit.edu 37 4 159091487 159091489 + In_Frame_Del DEL GCT GCT - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr4:159091487_159091489delGCT ENST00000393807.5 - 3 1327_1329 c.921_923delAGC c.(919-924)gcg>gc p.AA307del FAM198B_ENST00000585682.1_Intron|FAM198B_ENST00000592057.1_3'UTR|FAM198B_ENST00000589306.1_Intron|FAM198B_ENST00000296530.8_Intron NM_001031700.2 NP_001026870.2 Q6UWH4 F198B_HUMAN family with sequence similarity 198, member B 307 Golgi membrane|integral to membrane haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1) 26 GGAAAGACACGCTGCTGCTGCTG 0.458 7 216 --- --- --- --- FRG1 2483 broad.mit.edu 37 4 190873437 190873439 + In_Frame_Del DEL AAG AAG - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr4:190873437_190873439delAAG ENST00000226798.4 + 3 476_478 c.254_256delAAG c.(253-258)aaa>a p.KE85del FRG1_ENST00000514482.1_3'UTR NM_004477.2 NP_004468.1 Q14331 FRG1_HUMAN FSHD region gene 1 85 rRNA processing Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1) 32 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) GCTCCACACAAAGAAGGTTTGTG 0.414 12 940 --- --- --- --- FRG1 2483 broad.mit.edu 37 4 190878636 190878638 + In_Frame_Del DEL AGG AGG - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr4:190878636_190878638delAGG ENST00000226798.4 + 6 738_740 c.516_518delAGG c.(514-519)gca>gc p.AG172del FRG1_ENST00000514482.1_3'UTR NM_004477.2 NP_004468.1 Q14331 FRG1_HUMAN FSHD region gene 1 172 rRNA processing Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1) 32 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) GTAAAACAGCAGGAGAAGAAGAA 0.355 8 505 --- --- --- --- DNAH5 1767 broad.mit.edu 37 5 13919383 13919383 + Frame_Shift_Del DEL T T - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c 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 13 1793 --- --- --- --- AC026703.1 0 broad.mit.edu 37 5 32789822 32789823 + Frame_Shift_Del DEL GT GT - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr5:32789822_32789823delGT ENST00000326958.1 + 1 878_879 c.315_316delGT c.(313-318)gggtfs p.GC105fs NPR3_ENST00000265074.8_3'UTR CTGATTTTGGGTGTGTGTGTGT 0.421 10 575 --- --- --- --- FGF10 2255 broad.mit.edu 37 5 44388715 44388717 + In_Frame_Del DEL AGC AGC - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr5:44388715_44388717delAGC ENST00000264664.4 - 1 182_184 c.68_70delGCT c.(67-72)ttt>t p.CF23del NM_004465.1 NP_004456.1 O15520 FGF10_HUMAN fibroblast growth factor 10 23 actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation cell surface|extracellular space|nucleus|plasma membrane chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1) 13 Lung NSC(6;1.12e-06) AGCAACAAAAAGCAGCAGCAGCA 0.537 7 443 --- --- --- --- MOCS2 4338 broad.mit.edu 37 5 52397308 52397308 + Frame_Shift_Del DEL T T - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr5:52397308delT ENST00000396954.3 - 5 935 c.258delA c.(256-258)aafs p.K86fs MOCS2_ENST00000450852.3_3'UTR|MOCS2_ENST00000510818.2_3'UTR|MOCS2_ENST00000584946.1_3'UTR|MOCS2_ENST00000508922.1_3'UTR|MOCS2_ENST00000361377.4_Intron|MOCS2_ENST00000582677.1_Intron NM_004531.3 NP_004522.1 O96033 MOC2A_HUMAN molybdenum cofactor synthesis 2 0 Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol|molybdopterin synthase complex nucleotide binding endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 5 Lung NSC(810;3.08e-05)|Breast(144;0.0848) AGCTAATGACTTTTTTCCCTT 0.318 7 1616 --- --- --- --- AGGF1 55109 broad.mit.edu 37 5 76358966 76358967 + Frame_Shift_Ins INS - - A TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr5:76358966_76358967insA ENST00000312916.7 + 14 2416_2417 c.2034_2035insA c.(2032-2037)aaaaaafs p.KK678fs NM_018046.4 NP_060516.2 Q8N302 AGGF1_HUMAN angiogenic factor with G patch and FHA domains 1 678 angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis extracellular region|perinuclear region of cytoplasm eukaryotic cell surface binding|nucleic acid binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2) 20 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41) AAAACAAGAACAAAAAAAACTG 0.465 12 1568 --- --- --- --- SRFBP1 153443 broad.mit.edu 37 5 121356129 121356130 + Frame_Shift_Ins INS - - A TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c 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 12 776 --- --- --- --- EGR1 1958 broad.mit.edu 37 5 137801633 137801635 + In_Frame_Del DEL CAG CAG - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr5:137801633_137801635delCAG ENST00000239938.4 + 1 455_457 c.183_185delCAG c.(181-186)aac>aa p.NS61del NM_001964.2 NP_001955.1 P18146 EGR1_HUMAN early growth response 1 61 Gly/Ser-rich. cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytoplasm|nucleus histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) gcggcagcaacagcagcagcagc 0.700 10 311 --- --- --- --- ARSI 340075 broad.mit.edu 37 5 149676817 149676817 + Frame_Shift_Del DEL A A - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr5:149676817delA ENST00000328668.7 - 2 2249 c.1670delT c.(1669-1671)tcfs p.F557fs NM_001012301.2 NP_001012301.1 Q5FYB1 ARSI_HUMAN arylsulfatase family, member I 557 endoplasmic reticulum|extracellular region arylsulfatase activity|metal ion binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 23 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GAGTTTACGGAAAAAGGATCG 0.532 7 847 --- --- --- --- HMGB3P22 0 broad.mit.edu 37 5 179121145 179121146 + RNA INS - - A rs57192054 TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr5:179121145_179121146insA ENST00000442010.2 + 0 253 aactccgtctcaaaaaaaaaaa 0.485 8 69 --- --- --- --- CANX 821 broad.mit.edu 37 5 179149920 179149920 + Frame_Shift_Del DEL T T - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr5:179149920delT ENST00000247461.4 + 11 1498 c.1298delT c.(1297-1299)atfs p.I433fs CANX_ENST00000452673.2_Frame_Shift_Del_p.I433fs|CANX_ENST00000512607.2_Frame_Shift_Del_p.I325fs|CANX_ENST00000415618.2_Frame_Shift_Del_p.I468fs|CANX_ENST00000504734.1_Frame_Shift_Del_p.I433fs NM_001746.3 NP_001737.1 P27824 CALX_HUMAN calnexin 433 SDI -> LTF (in Ref. 9; AAA35696). post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome calcium ion binding|sugar binding|unfolded protein binding breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3) 22 all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218) all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031) ACCTCTGACATTTTTTTTGAC 0.423 10 587 --- --- --- --- DTNBP1 84062 broad.mit.edu 37 6 15638037 15638038 + Splice_Site INS - - A rs140124163 TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr6:15638037_15638038insA ENST00000338950.5 - 4 267 c.e4-2 DTNBP1_ENST00000355917.3_Splice_Site|DTNBP1_ENST00000344537.5_Splice_Site NM_183040.2 NP_898861.1 Q96EV8 DTBP1_HUMAN dystrobrevin binding protein 1 actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway axon part|BLOC-1 complex|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome identical protein binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2) 14 Breast(50;0.0289)|Ovarian(93;0.103) all_hematologic(90;0.0895) Epithelial(50;0.211) TCCTCATACCTAAAAAAAAGCA 0.366 Hermansky-Pudlak syndrome 7 476 --- --- --- --- MAS1L 116511 broad.mit.edu 37 6 29455156 29455157 + Frame_Shift_Del DEL AC AC - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr6:29455156_29455157delAC ENST00000377127.3 - 1 581_582 c.523_524delGT c.(523-525)cfs p.V175fs NM_052967.1 NP_443199.1 P35410 MAS1L_HUMAN MAS1 oncogene-like 175 cytoplasm|integral to membrane|nucleus|plasma membrane G-protein coupled receptor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2) 28 GGGGAAGAGGACACACACACAC 0.495 7 435 --- --- --- --- CDSN 1041 broad.mit.edu 37 6 31084620 31084622 + In_Frame_Del DEL CCA CCA - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr6:31084620_31084622delCCA ENST00000376288.2 - 2 796_798 c.770_772delTGG c.(769-774)gac>g p.VD257del PSORS1C1_ENST00000467107.1_3'UTR|PSORS1C1_ENST00000259881.9_Intron NM_001264.4 NP_001255.3 Q15517 CDSN_HUMAN corneodesmosin 257 Ser-rich. cell-cell adhesion|keratinocyte differentiation|skin morphogenesis cornified envelope|desmosome|extracellular region protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1) 10 CCGTGCTGGTCCACCACCACCAC 0.635 7 320 --- --- --- --- CYP21A1P 0 broad.mit.edu 37 6 31975223 31975224 + RNA INS - - T TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr6:31975223_31975224insT ENST00000342991.6 + 0 1346_1347 NR_040090.1 Q5ST44 Q5ST44_HUMAN electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen CTGGGCCGTGGTTTTTTTTGCT 0.614 13 1823 --- --- --- --- C6orf89 221477 broad.mit.edu 37 6 36867371 36867371 + Frame_Shift_Del DEL C C - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr6:36867371delC ENST00000480824.2 + 3 445 c.151delC c.(151-153)ccfs p.P53fs C6orf89_ENST00000359359.2_5'UTR|C6orf89_ENST00000373685.1_Frame_Shift_Del_p.P53fs|C6orf89_ENST00000510325.2_5'UTR|C6orf89_ENST00000355190.3_Frame_Shift_Del_p.P60fs 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 8 550 --- --- --- --- SYNCRIP 10492 broad.mit.edu 37 6 86332353 86332354 + Frame_Shift_Ins INS - - T TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr6:86332353_86332354insT ENST00000355238.6 - 8 1060_1061 c.854_855insA c.(853-855)aagfs p.K285fs SYNCRIP_ENST00000369622.3_Frame_Shift_Ins_p.K285fs NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1 NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1 O60506 HNRPQ_HUMAN synaptotagmin binding, cytoplasmic RNA interacting protein 285 RRM 2. CRD-mediated mRNA stabilization|interspecies interaction between organisms catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm nucleotide binding|protein binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 33 all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297) BRCA - Breast invasive adenocarcinoma(108;0.0389) AAAAGCCTCTGTTTTTTTTCTT 0.411 11 1188 --- --- --- --- MCHR2 84539 broad.mit.edu 37 6 100382357 100382358 + Frame_Shift_Ins INS - - A TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr6:100382357_100382358insA ENST00000281806.2 - 5 937_938 c.623_624insT c.(622-624)tccfs p.S208fs MCHR2_ENST00000369212.1_Frame_Shift_Ins_p.S208fs|MCHR2_ENST00000445970.1_Frame_Shift_Ins_p.S208fs NM_001040179.1 NP_001035269.1 Q969V1 MCHR2_HUMAN melanin-concentrating hormone receptor 2 208 integral to membrane|plasma membrane G-protein coupled receptor activity p.F208fs*5(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 39 all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069) BRCA - Breast invasive adenocarcinoma(108;0.0429) AGGGTAGAGGGAAAAAAAAAGT 0.342 11 497 --- --- --- --- OLIG3 167826 broad.mit.edu 37 6 137815210 137815212 + In_Frame_Del DEL TGG TGG - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c 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 11 713 --- --- --- --- SHPRH 257218 broad.mit.edu 37 6 146264834 146264836 + In_Frame_Del DEL ATC ATC - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr6:146264834_146264836delATC ENST00000367503.3 - 9 2079_2081 c.1681_1683delGAT c.(1681-1683)del p.D561del SHPRH_ENST00000367505.2_In_Frame_Del_p.D561del|SHPRH_ENST00000438092.2_In_Frame_Del_p.D561del|SHPRH_ENST00000275233.7_In_Frame_Del_p.D561del NM_001042683.2 NP_001036148.2 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase 561 DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1) 79 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) AATAGTAAGGATCATCATCATCA 0.360 11 821 --- --- --- --- MTHFD1L 25902 broad.mit.edu 37 6 151358163 151358164 + Frame_Shift_Ins INS - - A TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c 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 8 631 --- --- --- --- MAP3K4 4216 broad.mit.edu 37 6 161469776 161469776 + Frame_Shift_Del DEL A A - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr6:161469776delA ENST00000392142.4 + 3 620 c.472delA c.(472-474)aafs p.K159fs MAP3K4_ENST00000446500.1_3'UTR|MAP3K4_ENST00000366919.2_Frame_Shift_Del_p.K159fs|MAP3K4_ENST00000366920.2_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 8 633 --- --- --- --- POU6F2 11281 broad.mit.edu 37 7 39379288 39379290 + In_Frame_Del DEL CAG CAG - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr7:39379288_39379290delCAG ENST00000518318.2 + 5 601_603 c.559_561delCAG c.(559-561)del p.Q196del POU6F2_ENST00000559001.1_In_Frame_Del_p.Q188del|POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000403058.1_In_Frame_Del_p.Q196del 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 7 162 --- --- --- --- ZNF733P 0 broad.mit.edu 37 7 62752415 62752416 + RNA INS - - C TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr7:62752415_62752416insC ENST00000331425.6 - 0 1019_1020 NR_003952.1 GCATAGGGTTTTCTCTAGTATG 0.421 9 116 --- --- --- --- CCT6P1 0 broad.mit.edu 37 7 65222951 65222951 + RNA DEL T T - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr7:65222951delT ENST00000442266.1 + 0 561 TTTCTGTAACTTTTTTTTTTT 0.323 7 86 --- --- --- --- AUTS2 26053 broad.mit.edu 37 7 70255577 70255579 + In_Frame_Del DEL CCA CCA - rs35604576 TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr7:70255577_70255579delCCA ENST00000342771.4 + 19 3696_3698 c.3375_3377delCCA c.(3373-3378)agc>ag p.SH1125del AUTS2_ENST00000406775.2_In_Frame_Del_p.SH1101del NM_015570.2 NP_056385.1 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 1125 His-rich. breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 50 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) ACGACTACAGccaccaccaccac 0.680 9 137 --- --- --- --- TYW1B 441250 broad.mit.edu 37 7 72040750 72040751 + RNA INS - - A rs72347331 TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr7:72040750_72040751insA ENST00000438125.1 - 0 1399 Q6NUM6 TYW1B_HUMAN tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity AACATCCCTAGAAAAAAAAAAT 0.332 10 203 --- --- --- --- GTF2IRD2P1 0 broad.mit.edu 37 7 72664015 72664016 + RNA INS - - G TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr7:72664015_72664016insG ENST00000425256.1 - 0 884_885 NR_002164.1 ATACCACCCCCGGGGCATGCCA 0.505 8 91 --- --- --- --- GTF2IRD2P1 0 broad.mit.edu 37 7 72667747 72667747 + RNA DEL T T - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr7:72667747delT ENST00000425256.1 - 0 633 NR_002164.1 tttttttttcttttttttttt 0.388 9 130 --- --- --- --- GTF2IRD2P1 0 broad.mit.edu 37 7 72683455 72683456 + RNA INS - - T TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr7:72683455_72683456insT ENST00000425256.1 - 0 120 NR_002164.1 CGTTCTACCAgtttttttttgt 0.441 7 417 --- --- --- --- LMTK2 22853 broad.mit.edu 37 7 97820131 97820132 + Frame_Shift_Del DEL AG AG - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr7:97820131_97820132delAG ENST00000297293.5 + 10 1383_1384 c.1090_1091delAG c.(1090-1092)afs p.R364fs NM_014916.3 NP_055731.2 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 364 Protein kinase. early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) CCAAGTCATTAGAGAGAGAGAC 0.495 10 1792 --- --- --- --- SRRT 51593 broad.mit.edu 37 7 100479332 100479332 + Frame_Shift_Del DEL G G - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr7:100479332delG ENST00000388793.4 + 4 524 c.304delG c.(304-306)ggfs p.G106fs SRRT_ENST00000432932.1_Frame_Shift_Del_p.G106fs|SRRT_ENST00000347433.4_Frame_Shift_Del_p.G106fs|SRRT_ENST00000457580.2_Frame_Shift_Del_p.G106fs NM_001128852.1|NM_015908.5 NP_001122324.1|NP_056992.4 Q9BXP5 SRRT_HUMAN serrate RNA effector molecule homolog (Arabidopsis) 106 G -> GG (in Ref. 3; CAB46374). cell proliferation|primary miRNA processing|response to arsenic-containing substance cytoplasm|nucleoplasm protein binding p.G104fs*45(1) breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 GCCCTATGCTGGGGGGGGTGG 0.607 8 334 --- --- --- --- LAMB4 22798 broad.mit.edu 37 7 107763584 107763584 + Frame_Shift_Del DEL A A - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr7:107763584delA ENST00000388781.3 - 2 109 c.26delT c.(25-27)tgfs p.L9fs LAMB4_ENST00000414450.2_Frame_Shift_Del_p.L9fs|LAMB4_ENST00000388780.3_Frame_Shift_Del_p.L9fs|LAMB4_ENST00000205386.4_Frame_Shift_Del_p.L9fs NM_007356.2 NP_031382.2 A4D0S4 LAMB4_HUMAN laminin, beta 4 9 cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 ACCAAGGTGCAAAAAAAGGGT 0.308 7 411 --- --- --- --- PRSS3P2 0 broad.mit.edu 37 7 142481743 142481745 + RNA DEL CTA CTA - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr7:142481743_142481745delCTA ENST00000603901.1 + 0 454 NR_001296.3 ACCCACATTTCTACTTTCTTTAT 0.517 8 321 --- --- --- --- PRSS3P2 0 broad.mit.edu 37 7 142481996 142481997 + RNA INS - - C TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr7:142481996_142481997insC ENST00000603901.1 + 0 591 NR_001296.3 TCCCAAGGTGGGGGGCTGAGGA 0.564 20 89 --- --- --- --- KMT2C 58508 broad.mit.edu 37 7 151853388 151853388 + Frame_Shift_Del DEL G G - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr7:151853388delG ENST00000355193.2 - 46 12103 c.11885delC c.(11884-11886)ctfs p.P3963fs KMT2C_ENST00000262189.6_Frame_Shift_Del_p.P3906fs lysine (K)-specific methyltransferase 2C TGGTGTAGGAGGAAGAGAGGC 0.438 147 462 --- --- --- --- MCPH1 79648 broad.mit.edu 37 8 6289099 6289099 + Frame_Shift_Del DEL A A - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr8:6289099delA ENST00000344683.5 + 4 389 c.313delA c.(313-315)aafs p.K107fs MCPH1_ENST00000519480.1_Frame_Shift_Del_p.K107fs|MCPH1_ENST00000522905.1_Frame_Shift_Del_p.K107fs NM_024596.3 NP_078872.2 Q8NEM0 MCPH1_HUMAN microcephalin 1 107 microtubule organizing center AGPAT5/MCPH1(2) central_nervous_system(1)|large_intestine(4)|skin(1) 6 Hepatocellular(245;0.0663) Colorectal(4;0.0505) AAGCCTAATTAAAAAAAAAGT 0.274 13 568 --- --- --- --- ANGPT2 285 broad.mit.edu 37 8 6378797 6378798 + Frame_Shift_Ins INS - - T rs34047276 TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr8:6378797_6378798insT ENST00000325203.5 - 4 1174_1175 c.700_701insA c.(700-702)agtfs p.S234fs ANGPT2_ENST00000338312.6_Frame_Shift_Ins_p.S182fs|ANGPT2_ENST00000523120.1_Frame_Shift_Ins_p.S234fs|MCPH1_ENST00000344683.5_Intron|ANGPT2_ENST00000415216.1_Frame_Shift_Ins_p.S234fs 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 8 604 --- --- --- --- FAM66D 0 broad.mit.edu 37 8 11994626 11994627 + RNA DEL GT GT - rs138516564 by1000genomes TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr8:11994626_11994627delGT ENST00000434078.2 + 0 608 NR_027425.1 gtatttgtgcgtgtgtgtgtgt 0.510 7 139 --- --- --- --- CTD-2547L16.1 0 broad.mit.edu 37 8 17946060 17946060 + RNA DEL T T - rs142591230 TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr8:17946060delT ENST00000499554.2 + 0 483 CTD-2547L16.1_ENST00000521775.1_RNA GTGAACACTCttttttttttt 0.438 14 138 --- --- --- --- WRN 7486 broad.mit.edu 37 8 30945377 30945379 + In_Frame_Del DEL AAG AAG - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c 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 13 507 --- --- --- --- PRKDC 5591 broad.mit.edu 37 8 48746799 48746799 + Frame_Shift_Del DEL T T - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr8:48746799delT ENST00000314191.2 - 60 8163 c.8107delA c.(8107-8109)ggfs p.R2703fs PRKDC_ENST00000338368.3_Frame_Shift_Del_p.R2703fs|PRKDC_ENST00000523565.1_5'UTR NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 2704 KIP-binding. cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) AGGCCCAGCCTTTTTTTCCCA 0.498 Non-homologous end-joining 8 2190 --- --- --- --- TP53INP1 0 broad.mit.edu 37 8 95952409 95952411 + In_Frame_Del DEL TCT TCT - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr8:95952409_95952411delTCT ENST00000342697.4 - 3 557_559 c.150_152delAGA c.(148-153)gag>ga p.EE50del NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000378776.4_In_Frame_Del_p.EE50del|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 7 346 --- --- --- --- RGS22 26166 broad.mit.edu 37 8 101076229 101076229 + Frame_Shift_Del DEL T T - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr8:101076229delT ENST00000360863.6 - 8 961 c.767delA c.(766-768)agfs p.K256fs RGS22_ENST00000523437.1_Frame_Shift_Del_p.K244fs|RGS22_ENST00000523287.1_Frame_Shift_Del_p.K75fs NM_015668.3 NP_056483.3 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 256 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) AGATGGGTCCTTTTTTGTCCT 0.328 7 1733 --- --- --- --- PKHD1L1 93035 broad.mit.edu 37 8 110455173 110455174 + Splice_Site INS - - G TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c 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) 7 620 --- --- --- --- TBC1D31 93594 broad.mit.edu 37 8 124140520 124140521 + Splice_Site INS - - T TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr8:124140520_124140521insT ENST00000287380.1 + 14 1974_1975 c.e14-1 TBC1D31_ENST00000521676.1_Splice_Site|TBC1D31_ENST00000522420.1_Splice_Site|TBC1D31_ENST00000518805.1_Intron|TBC1D31_ENST00000327098.5_Splice_Site|TBC1D31_ENST00000378080.2_Splice_Site|TBC1D31_ENST00000309336.3_Splice_Site NM_145647.3 NP_663622.2 TBC1 domain family, member 31 TTTTCTTACAGTTTTTTTTTCA 0.322 10 399 --- --- --- --- SLC39A4 55630 broad.mit.edu 37 8 145637952 145637954 + In_Frame_Del DEL CAG CAG - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr8:145637952_145637954delCAG ENST00000276833.5 - 11 2140_2142 c.1837_1839delCTG c.(1837-1839)del p.L613del SLC39A4_ENST00000301305.3_In_Frame_Del_p.L638del|SLC39A4_ENST00000531013.1_5'UTR NM_017767.2 NP_060237.2 Q6P5W5 S39A4_HUMAN solute carrier family 39 (zinc transporter), member 4 638 cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane zinc ion transmembrane transporter activity endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 14 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055) CGTACAGGGACAGCAGCAGCAGG 0.601 7 1298 --- --- --- --- KANK1 23189 broad.mit.edu 37 9 732475 732477 + In_Frame_Del DEL GAG GAG - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr9:732475_732477delGAG ENST00000382303.1 + 10 3755_3757 c.3103_3105delGAG c.(3103-3105)del p.E1039del KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_In_Frame_Del_p.E1039del|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 12 809 --- --- --- --- LURAP1L 286343 broad.mit.edu 37 9 12775861 12775862 + In_Frame_Ins INS - - GGCGGCGGC rs3833707 by1000genomes TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr9:12775861_12775862insGGCGGCGGC ENST00000319264.3 + 1 842_843 c.147_148insGGCGGCGGC c.(145-150)gggcgg>ggGGCGGCGGCgcgg p.49_50GR>GAAAR RP11-3L8.3_ENST00000417638.1_RNA|LURAP1L_ENST00000489107.1_3'UTR NM_203403.1 NP_981948.1 Q8IV03 CI150_HUMAN leucine rich adaptor protein 1-like 49 Gly-rich. Missing. p.G49_G50insGGG(2)|p.G50_G52delGGG(1) gcggtggtggtggcggcggcgg 0.688 13 78 --- --- --- --- ECM2 1842 broad.mit.edu 37 9 95277146 95277148 + In_Frame_Del DEL TCC TCC - rs137929518 byFrequency TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr9:95277146_95277148delTCC ENST00000344604.5 - 4 968_970 c.819_821delGGA c.(817-822)gat>ga p.ED273del CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_In_Frame_Del_p.ED251del 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 17 1074 --- --- --- --- FOXE1 2304 broad.mit.edu 37 9 100616701 100616706 + In_Frame_Del DEL GCCGCC GCCGCC - rs11279082 TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr9:100616701_100616706delGCCGCC ENST00000375123.3 + 1 1166_1171 c.505_510delGCCGCC c.(505-510)del p.AA177del NM_004473.3 NP_004464.2 O00358 FOXE1_HUMAN forkhead box E1 (thyroid transcription factor 2) 177 Ala-rich.|Poly-Ala. cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation transcription factor complex DNA bending activity|double-stranded DNA binding|promoter 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 central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1) 5 Acute lymphoblastic leukemia(62;0.158) Ggctgccgcagccgccgccgccgccg 0.767 11 60 --- --- --- --- CCBL1 883 broad.mit.edu 37 9 131600393 131600393 + Frame_Shift_Del DEL A A - rs34879109 TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr9:131600393delA ENST00000436267.2 - 7 806 c.657delT c.(655-657)ttfs p.F219fs CCBL1_ENST00000320665.6_Frame_Shift_Del_p.F75fs|CCBL1_ENST00000483599.1_5'UTR|CCBL1_ENST00000302586.3_Frame_Shift_Del_p.F125fs Q16773 KAT1_HUMAN cysteine conjugate-beta lyase, cytoplasmic 125 kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process cytosol|nucleus 1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1) 18 L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114) CGTAGCAGTCAAAAAAGGGTT 0.537 8 1091 --- --- --- --- GRIN1 2902 broad.mit.edu 37 9 140056884 140056886 + In_Frame_Del DEL GAG GAG - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr9:140056884_140056886delGAG ENST00000371561.3 + 13 2877_2879 c.1780_1782delGAG c.(1780-1782)del p.E598del GRIN1_ENST00000371560.3_In_Frame_Del_p.E619del|GRIN1_ENST00000350902.5_In_Frame_Del_p.E598del|GRIN1_ENST00000371546.4_In_Frame_Del_p.E619del|GRIN1_ENST00000371550.4_In_Frame_Del_p.E598del|GRIN1_ENST00000315048.3_In_Frame_Del_p.E598del|GRIN1_ENST00000371559.4_In_Frame_Del_p.E598del|GRIN1_ENST00000371555.4_In_Frame_Del_p.E619del|GRIN1_ENST00000371553.3_In_Frame_Del_p.E619del|GRIN1_ENST00000471122.1_3'UTR NM_007327.3 NP_015566.1 Q05586 NMDZ1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 1 598 ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095) L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) GGTGAACAGCGAGGAGGAGGAGG 0.739 8 228 --- --- --- --- KIAA1217 56243 broad.mit.edu 37 10 24822125 24822127 + In_Frame_Del DEL GAA GAA - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr10:24822125_24822127delGAA ENST00000376451.2 + 11 2682_2684 c.2422_2424delGAA c.(2422-2424)del p.E812del KIAA1217_ENST00000307544.6_In_Frame_Del_p.E812del|KIAA1217_ENST00000396445.1_In_Frame_Del_p.E812del|KIAA1217_ENST00000376462.1_In_Frame_Del_p.E1049del|KIAA1217_ENST00000396446.1_In_Frame_Del_p.E812del|KIAA1217_ENST00000458595.1_In_Frame_Del_p.E1094del|KIAA1217_ENST00000376454.3_In_Frame_Del_p.E1129del|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 8 521 --- --- --- --- TFAM 7019 broad.mit.edu 37 10 60148570 60148570 + Frame_Shift_Del DEL A A - rs78912196 TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr10:60148570delA ENST00000487519.1 + 4 958 c.432delA c.(430-432)acfs p.T144fs TFAM_ENST00000373899.3_3'UTR|TFAM_ENST00000373895.3_Frame_Shift_Del_p.T144fs NM_003201.1 NP_003192.1 Q00059 TFAM_HUMAN transcription factor A, mitochondrial 144 DNA-dependent DNA replication|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase I promoter|transcription initiation from mitochondrial promoter mitochondrial nucleoid mitochondrial light strand promoter sense binding|protein binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(1)|lung(4)|prostate(1) 7 AAGCTATGACAAAAAAAAAAG 0.269 32 433 --- --- --- --- DNAJC12 56521 broad.mit.edu 37 10 69565430 69565433 + Frame_Shift_Del DEL TCTT TCTT - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr10:69565430_69565433delTCTT ENST00000225171.2 - 4 562_565 c.410_413delAAGA c.(409-414)agfs p.KE137fs DNAJC12_ENST00000483798.2_Frame_Shift_Del_p.KE167fs NM_021800.2 NP_068572.1 Q9UKB3 DJC12_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 12 137 protein folding heat shock protein binding|unfolded protein binding breast(2)|kidney(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1) 12 AGCCAGCTCCTCTTTCTTTCTTTC 0.446 8 1571 --- --- --- --- ZMIZ1 57178 broad.mit.edu 37 10 81070787 81070789 + In_Frame_Del DEL CTC CTC - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr10:81070787_81070789delCTC ENST00000334512.5 + 24 3514_3516 c.2942_2944delCTC c.(2941-2946)gct>g p.AP981del ZMIZ1_ENST00000446377.2_Intron NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 981 Pro-rich. 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) CACAGTGGGGCTCCTCCTCCTCC 0.635 15 1139 --- --- --- --- ABCC2 1244 broad.mit.edu 37 10 101559000 101559000 + Frame_Shift_Del DEL A A - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr10:101559000delA ENST00000370449.4 + 8 1017 c.904delA c.(904-906)aafs p.K303fs NM_000392.3 NP_000383.1 Q92887 MRP2_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 2 303 apical plasma membrane|integral to plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 67 Colorectal(252;0.234) Epithelial(162;2.77e-10)|all cancers(201;2.47e-08) Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) GTCTGGGACCAAAAAAGATGT 0.403 13 1719 --- --- --- --- SCD 6319 broad.mit.edu 37 10 102107836 102107838 + In_Frame_Del DEL ACC ACC - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr10:102107836_102107838delACC ENST00000370355.2 + 2 424_426 c.43_45delACC c.(43-45)del p.T19del NM_005063.4 NP_005054.3 O00767 ACOD_HUMAN stearoyl-CoA desaturase (delta-9-desaturase) 19 fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane iron ion binding|stearoyl-CoA 9-desaturase activity endometrium(1)|large_intestine(3)|lung(5) 9 Colorectal(252;0.0323) Epithelial(162;1.97e-10)|all cancers(201;1.73e-08) TAGCTCCTATACCACCACCACCA 0.581 9 974 --- --- --- --- NOLC1 9221 broad.mit.edu 37 10 103919000 103919002 + In_Frame_Del DEL AGC AGC - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr10:103919000_103919002delAGC ENST00000405356.1 + 6 893_895 c.658_660delAGC c.(658-660)del p.S227del NOLC1_ENST00000603742.1_5'UTR|NOLC1_ENST00000488254.2_In_Frame_Del_p.S228del|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 11 1172 --- --- --- --- CPXM2 119587 broad.mit.edu 37 10 125528165 125528167 + In_Frame_Del DEL CAG CAG - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c 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 19 1164 --- --- --- --- TMEM132A 54972 broad.mit.edu 37 11 60703785 60703787 + In_Frame_Del DEL GGA GGA - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c 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 7 645 --- --- --- --- CPSF7 79869 broad.mit.edu 37 11 61183765 61183767 + In_Frame_Del DEL AGG AGG - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr11:61183765_61183767delAGG ENST00000340437.4 - 6 984_986 c.904_906delCCT c.(904-906)del p.P302del CPSF7_ENST00000394888.4_In_Frame_Del_p.P259del|CPSF7_ENST00000439958.3_In_Frame_Del_p.P250del|CPSF7_ENST00000448745.1_In_Frame_Del_p.P250del NM_024811.3 NP_079087.3 Q8N684 CPSF7_HUMAN cleavage and polyadenylation specific factor 7, 59kDa 259 Pro-rich. mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription mRNA cleavage factor complex nucleotide binding|protein binding|RNA binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1) 22 AGTGGATACCAGGAGGAGGAGGA 0.611 11 477 --- --- --- --- ITPR2 3709 broad.mit.edu 37 12 26640046 26640046 + Frame_Shift_Del DEL T T - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr12:26640046delT ENST00000381340.3 - 40 5925 c.5509delA c.(5509-5511)ggfs p.R1837fs NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 1837 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) TCATCGTCCCTTTTTTTGTTA 0.358 10 1062 --- --- --- --- LRRK2 120892 broad.mit.edu 37 12 40713870 40713870 + Frame_Shift_Del DEL A A - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr12:40713870delA ENST00000298910.7 + 34 4966 c.4908delA c.(4906-4908)tcfs p.S1636fs NM_198578.3 NP_940980.3 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 1636 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding p.R1639fs*15(1)|p.R1651fs*15(1) NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) AATTTCTTTCAAAAAAAAGGA 0.353 OREG0003827 type=REGULATORY REGION|Gene=LOC486608|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 7 524 --- --- --- --- KRT73 319101 broad.mit.edu 37 12 53001991 53001991 + Frame_Shift_Del DEL T T - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr12:53001991delT ENST00000305748.3 - 9 1646 c.1612delA c.(1612-1614)ccfs p.T538fs RP11-641A6.2_ENST00000551089.1_RNA NM_175068.2 NP_778238.1 Q86Y46 K2C73_HUMAN keratin 73 538 Tail. keratin filament structural molecule activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(357;0.189) TATCTCATGGTTTTTTTGGTG 0.532 7 1536 --- --- --- --- OR10A7 121364 broad.mit.edu 37 12 55615114 55615116 + In_Frame_Del DEL CTT CTT - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr12:55615114_55615116delCTT ENST00000326258.1 + 1 306_308 c.306_308delCTT c.(304-309)tac>ta p.YF102del NM_001005280.1 NP_001005280.1 Q8NGE5 O10A7_HUMAN olfactory receptor, family 10, subfamily A, member 7 102 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3) 24 CCCAGATGTACTTCTTCTTCTTC 0.414 7 1506 --- --- --- --- TMEM19 55266 broad.mit.edu 37 12 72094757 72094757 + Frame_Shift_Del DEL T T - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr12:72094757delT ENST00000266673.5 + 6 1587 c.993delT c.(991-993)ggfs p.G331fs NM_018279.3 NP_060749.2 Q96HH6 TMM19_HUMAN transmembrane protein 19 331 integral to membrane large_intestine(1)|lung(8) 9 Breast(359;0.0889) GBM - Glioblastoma multiforme(134;0.044) CTGCTTGGGGTTTTTGGCCCA 0.433 12 1329 --- --- --- --- CEP290 80184 broad.mit.edu 37 12 88524079 88524079 + Frame_Shift_Del DEL T T - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr12:88524079delT ENST00000552810.1 - 9 978 c.635delA c.(634-636)acfs p.N212fs CEP290_ENST00000309041.7_Frame_Shift_Del_p.N212fs NM_025114.3 NP_079390.3 O15078 CE290_HUMAN centrosomal protein 290kDa 212 cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium protein binding breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 73 AAGCTCATAGTTTTTTTTAGA 0.318 10 951 --- --- --- --- POP5 51367 broad.mit.edu 37 12 121017154 121017156 + In_Frame_Del DEL CTC CTC - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr12:121017154_121017156delCTC ENST00000341039.2 - 4 323_325 c.307_309delGAG c.(307-309)del p.E103del POP5_ENST00000542776.1_5'UTR|POP5_ENST00000357500.4_In_Frame_Del_p.E153del NM_198202.1 NP_937845.1 Q969H6 POP5_HUMAN processing of precursor 5, ribonuclease P/MRP subunit (S. cerevisiae) 153 tRNA processing protein binding|ribonuclease P activity breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1) 7 all_neural(191;0.077)|Medulloblastoma(191;0.0922) CCTCACCTGACTCCTCCTCCTCC 0.517 7 647 --- --- --- --- SNRNP35 11066 broad.mit.edu 37 12 123950525 123950525 + Frame_Shift_Del DEL A A - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr12:123950525delA ENST00000526639.2 + 2 1017 c.438delA c.(436-438)ggfs p.G146fs SNRNP35_ENST00000527158.2_Intron|SNRNP35_ENST00000350887.5_Frame_Shift_Del_p.G146fs|SNRNP35_ENST00000412157.2_Frame_Shift_Del_p.G151fs NM_022717.2 NP_073208.1 Q16560 U1SBP_HUMAN small nuclear ribonucleoprotein 35kDa (U11/U12) 146 mRNA processing U12-type spliceosomal complex nucleotide binding|RNA binding NS(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1) 8 GTCTTGGGGGAAAAAAGGAGT 0.502 7 743 --- --- --- --- SFSWAP 6433 broad.mit.edu 37 12 132281734 132281736 + In_Frame_Del DEL AGA AGA - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr12:132281734_132281736delAGA ENST00000261674.4 + 16 2687_2689 c.2546_2548delAGA c.(2545-2550)gag>g p.EK849del SFSWAP_ENST00000541286.1_In_Frame_Del_p.EK901del|SFSWAP_ENST00000539506.1_3'UTR NM_004592.3 NP_004583.2 Q12872 SFSWA_HUMAN splicing factor, suppressor of white-apricot homolog (Drosophila) 849 Arg/Ser-rich (RS domain). mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2) 25 AGTCCCCACGAGAAGAAGAAGAA 0.606 13 1263 --- --- --- --- TPTE2 93492 broad.mit.edu 37 13 20041394 20041394 + Frame_Shift_Del DEL A A - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr13:20041394delA ENST00000400230.2 - 7 527 c.483delT c.(481-483)ttfs p.F161fs TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000382978.1_Intron|TPTE2_ENST00000382977.4_Frame_Shift_Del_p.F161fs|TPTE2_ENST00000382975.4_Intron|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000400103.2_Intron Q6XPS3 TPTE2_HUMAN transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 161 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) ACTTAATGTCAAAAAAAATGT 0.303 7 332 --- --- --- --- ZMYM5 9205 broad.mit.edu 37 13 20426143 20426145 + In_Frame_Del DEL CAT CAT - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr13:20426143_20426145delCAT ENST00000337963.4 - 3 440_442 c.176_178delATG c.(175-180)gtt>g p.DV59del ZMYM5_ENST00000382905.4_In_Frame_Del_p.DV59del|ZMYM5_ENST00000382907.4_In_Frame_Del_p.DV59del NM_001142684.1 NP_001136156.1 Q9UJ78 ZMYM5_HUMAN zinc finger, MYM-type 5 59 Poly-Asp. nucleus zinc ion binding kidney(1)|large_intestine(5)|lung(9) 15 all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431) ATAAACACAAcatcatcatcatc 0.379 8 657 --- --- --- --- TPTE2P1 0 broad.mit.edu 37 13 25527490 25527491 + RNA INS - - AAAAAG TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr13:25527490_25527491insAAAAAG ENST00000429698.1 - 0 282 AGGAAGGTTCTAAAAAAAATTT 0.252 7 37 --- --- --- --- CDK8 1024 broad.mit.edu 37 13 26975609 26975611 + In_Frame_Del DEL CAG CAG - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr13:26975609_26975611delCAG ENST00000381527.3 + 12 1620_1622 c.1117_1119delCAG c.(1117-1119)del p.Q377del CDK8_ENST00000536792.1_3'UTR|CDK8_ENST00000480323.1_3'UTR NM_001260.1 NP_001251.1 P49336 CDK8_HUMAN cyclin-dependent kinase 8 377 Poly-Gln. regulation of transcription, DNA-dependent|transcription, DNA-dependent mediator complex ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 25 Colorectal(5;0.000442) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188) TGAGAAGAACCAGCAGCAGCAGC 0.463 11 282 --- --- --- --- KIAA1704 0 broad.mit.edu 37 13 45580365 45580367 + In_Frame_Del DEL GAT GAT - rs138421508 TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr13:45580365_45580367delGAT ENST00000361121.2 + 3 285_287 c.250_252delGAT c.(250-252)del p.D88del KIAA1704_ENST00000357537.3_De_novo_Start_InFrame|KIAA1704_ENST00000379151.4_In_Frame_Del_p.D88del|RP11-321C24.1_ENST00000437748.2_lincRNA Q8IXQ4 K1704_HUMAN 88 Poly-Asp. breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|prostate(2)|skin(1) 12 Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126) Ggatgatgacgatgatgatgatg 0.335 9 1453 --- --- --- --- DIAPH3 81624 broad.mit.edu 37 13 60582733 60582734 + Frame_Shift_Ins INS - - T TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr13:60582733_60582734insT ENST00000400324.4 - 9 1178_1179 c.958_959insA c.(958-960)tgafs p.*320fs DIAPH3_ENST00000400319.1_Frame_Shift_Ins_p.*250fs|DIAPH3_ENST00000400330.1_Frame_Shift_Ins_p.*320fs|DIAPH3_ENST00000377908.2_Frame_Shift_Ins_p.*309fs|DIAPH3_ENST00000400320.1_Frame_Shift_Ins_p.*274fs|DIAPH3_ENST00000267215.4_Frame_Shift_Ins_p.*320fs|DIAPH3_ENST00000465066.1_5'UTR 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 12 913 --- --- --- --- RBM26 64062 broad.mit.edu 37 13 79918806 79918807 + Frame_Shift_Ins INS - - T TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr13:79918806_79918807insT ENST00000438737.2 - 15 2621_2622 c.2181_2182insA c.(2179-2184)aaaggafs p.G728fs RBM26_ENST00000267229.7_Frame_Shift_Ins_p.G701fs|RBM26_ENST00000438724.1_Frame_Shift_Ins_p.G704fs Q5T8P6 RBM26_HUMAN RNA binding motif protein 26 728 mRNA processing nucleotide binding|protein binding|RNA binding|zinc ion binding NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 33 Acute lymphoblastic leukemia(28;0.0279) GBM - Glioblastoma multiforme(99;0.0188) GTACTTACCTGTTTTTTTTTCT 0.332 8 330 --- --- --- --- RP11-597A11.1 0 broad.mit.edu 37 14 20086237 20086237 + RNA DEL T T - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr14:20086237delT ENST00000548261.1 + 0 51 GGTGTGTGTGTGGGGGGGTAT 0.388 28 51 --- --- --- --- OR10G2 26534 broad.mit.edu 37 14 22102229 22102231 + In_Frame_Del DEL TAG TAG - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr14:22102229_22102231delTAG ENST00000542433.1 - 1 865_867 c.768_770delCTA c.(766-771)tat>ta p.YY256del NM_001005466.1 NP_001005466.1 Q8NGC3 O10G2_HUMAN olfactory receptor, family 10, subfamily G, member 2 256 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2) 22 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0142) ACAGGGGACATAGTAGACTGTGA 0.552 40 186 --- --- --- --- ACIN1 22985 broad.mit.edu 37 14 23528502 23528503 + Frame_Shift_Del DEL TC TC - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr14:23528502_23528503delTC ENST00000262710.1 - 19 4207_4208 c.3880_3881delGA c.(3880-3882)afs p.E1294fs ACIN1_ENST00000557515.1_Frame_Shift_Del_p.E535fs|ACIN1_ENST00000338631.6_Frame_Shift_Del_p.E567fs|ACIN1_ENST00000605057.1_Frame_Shift_Del_p.E1236fs|ACIN1_ENST00000555053.1_Frame_Shift_Del_p.E1281fs|ACIN1_ENST00000397341.3_Frame_Shift_Del_p.E536fs|ACIN1_ENST00000457657.1_Frame_Shift_Del_p.E1254fs|ACIN1_ENST00000357481.2_Frame_Shift_Del_p.E536fs NM_001164814.1|NM_014977.3 NP_001158286.1|NP_055792.1 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 1294 Arg/Asp/Glu/Lys-rich. apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 37 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) ccgctccctttctctctctctc 0.629 OREG0022595 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 441 --- --- --- --- PSMA6 5687 broad.mit.edu 37 14 35782215 35782216 + Frame_Shift_Ins INS - - A TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr14:35782215_35782216insA ENST00000261479.4 + 5 658_659 c.538_539insA c.(538-540)aaafs p.K180fs PSMA6_ENST00000553809.1_Frame_Shift_Ins_p.K186fs|PSMA6_ENST00000556506.1_Frame_Shift_Ins_p.K180fs|PSMA6_ENST00000555764.1_Frame_Shift_Ins_p.K101fs|KIAA0391_ENST00000557565.1_3'UTR|PSMA6_ENST00000540871.1_Frame_Shift_Ins_p.K161fs NM_002791.1 NP_002782.1 P60900 PSA6_HUMAN proteasome (prosome, macropain) subunit, alpha type, 6 180 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1) 10 Breast(36;0.0519)|Hepatocellular(127;0.158) Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973) GBM - Glioblastoma multiforme(112;0.0234) CAGCTTCCTTGAAAAAAAAGTG 0.406 10 1013 --- --- --- --- SYNE2 23224 broad.mit.edu 37 14 64488704 64488704 + Frame_Shift_Del DEL A A - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr14:64488704delA ENST00000358025.3 + 37 5712 c.5482delA c.(5482-5484)aafs p.K1829fs SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Frame_Shift_Del_p.K1829fs|SYNE2_ENST00000344113.4_Frame_Shift_Del_p.K1829fs NM_182914.2 NP_878918.2 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 1829 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) ATTTAATACCAAAAAAAGTGT 0.318 7 657 --- --- --- --- RP11-973N13.4 0 broad.mit.edu 37 14 65002366 65002367 + RNA INS - - T rs45532333 TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr14:65002366_65002367insT ENST00000554918.1 - 0 52 GTAAGATCTGATTTTTTTTTCA 0.436 9 189 --- --- --- --- RBM25 58517 broad.mit.edu 37 14 73572607 73572608 + Frame_Shift_Del DEL AG AG - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c 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 18 263 --- --- --- --- ELMSAN1 91748 broad.mit.edu 37 14 74205926 74205928 + In_Frame_Del DEL CTG CTG - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr14:74205926_74205928delCTG ENST00000286523.5 - 2 1566_1568 c.784_786delCAG c.(784-786)del p.Q262del ELMSAN1_ENST00000394071.2_In_Frame_Del_p.Q262del NM_194278.3 NP_919254.2 ELM2 and Myb/SANT-like domain containing 1 GTAGGgctgcctgctgctgctgc 0.650 8 210 --- --- --- --- MLH3 27030 broad.mit.edu 37 14 75514603 75514604 + Frame_Shift_Ins INS - - T TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr14:75514603_75514604insT ENST00000355774.2 - 2 1970_1971 c.1755_1756insA c.(1753-1758)aaaatcfs p.I586fs MLH3_ENST00000238662.7_Frame_Shift_Ins_p.I586fs|MLH3_ENST00000556740.1_Frame_Shift_Ins_p.I586fs|MLH3_ENST00000556257.1_Frame_Shift_Ins_p.I586fs|MLH3_ENST00000380968.2_5'UTR NM_001040108.1 NP_001035197.1 Q9UHC1 MLH3_HUMAN mutL homolog 3 586 mismatch repair|reciprocal meiotic recombination chiasma|MutLbeta complex|synaptonemal complex ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding p.A577_S588delAQTEKEKKKESS(2)|p.E586*(1) breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 44 BRCA - Breast invasive adenocarcinoma(234;0.00688) TTGCTAGATTCTTTTTTTTTCT 0.356 Mismatch excision repair (MMR) 11 746 --- --- --- --- TMED10 10972 broad.mit.edu 37 14 75601711 75601712 + Splice_Site INS - - A TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr14:75601711_75601712insA ENST00000303575.4 - 5 590 c.e5-2 RP11-950C14.7_ENST00000556236.1_RNA|TMED10_ENST00000557670.1_Splice_Site NM_006827.5 NP_006818.3 P49755 TMEDA_HUMAN transmembrane emp24-like trafficking protein 10 (yeast) protein transport|regulated secretory pathway|vesicle targeting, to, from or within Golgi cis-Golgi network|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|melanosome|microsome|zymogen granule membrane protein binding endometrium(1)|large_intestine(5)|lung(3) 9 BRCA - Breast invasive adenocarcinoma(234;0.0126) TTGTTGACTCTAAAAAAAAACA 0.426 10 369 --- --- --- --- DDX24 57062 broad.mit.edu 37 14 94545821 94545823 + In_Frame_Del DEL CCT CCT - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr14:94545821_94545823delCCT ENST00000330836.5 - 2 397_399 c.266_268delAGG c.(265-270)gga>g p.EG89del DDX24_ENST00000544005.1_Intron|DDX24_ENST00000555054.1_In_Frame_Del_p.EG46del NM_020414.3 NP_065147.1 Q9GZR7 DDX24_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 24 89 Poly-Glu. RNA metabolic process cytoplasm|nucleolus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1) 23 all_cancers(154;0.12) Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207) CTAGACTTTCCCTCCTCCTCCTC 0.443 11 984 --- --- --- --- NIPA2 81614 broad.mit.edu 37 15 23021238 23021239 + Frame_Shift_Ins INS - - T rs145147241 byFrequency TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr15:23021238_23021239insT ENST00000337451.3 - 4 710_711 c.98_99insA c.(97-99)aggfs p.R33fs NIPA2_ENST00000359727.4_Frame_Shift_Ins_p.R33fs|NIPA2_ENST00000398013.3_Frame_Shift_Ins_p.R33fs|NIPA2_ENST00000398014.2_Frame_Shift_Ins_p.R33fs|NIPA2_ENST00000539711.2_Frame_Shift_Ins_p.R33fs NM_030922.6 NP_112184.4 Q8N8Q9 NIPA2_HUMAN non imprinted in Prader-Willi/Angelman syndrome 2 33 early endosome|integral to membrane|plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1) 15 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353) GAAGGAGGCCCTTTTTTTTCAA 0.450 8 696 --- --- --- --- WHAMMP3 0 broad.mit.edu 37 15 23205231 23205231 + RNA DEL G G - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr15:23205231delG ENST00000400153.2 - 0 656 NR_003521.1 GCTCAAGTCAGGACAGTGTAA 0.333 9 54 --- --- --- --- HERC2P2 0 broad.mit.edu 37 15 23331163 23331163 + RNA DEL A A - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr15:23331163delA ENST00000560464.1 - 0 908 AATAAATACTAAAAAAAAAAA 0.368 8 65 --- --- --- --- SNHG14 0 broad.mit.edu 37 15 25299375 25299376 + RNA INS - - A TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr15:25299375_25299376insA ENST00000549804.2 + 0 98 SNHG14_ENST00000547292.1_RNA|SNORD116-2_ENST00000384274.1_RNA GATGAGTCCCCAAAAAAAACAT 0.495 8 972 --- --- --- --- MGA 23269 broad.mit.edu 37 15 42003383 42003385 + In_Frame_Del DEL CAG CAG - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr15:42003383_42003385delCAG ENST00000219905.7 + 8 3101_3103 c.2920_2922delCAG c.(2920-2922)del p.Q981del MGA_ENST00000545763.1_In_Frame_Del_p.Q981del|MGA_ENST00000570161.1_In_Frame_Del_p.Q981del|MGA_ENST00000389936.4_In_Frame_Del_p.Q981del|MGA_ENST00000566586.1_In_Frame_Del_p.Q981del NM_001164273.1 NP_001157745.1 Q8IWI9 MGAP_HUMAN MGA, MAX dimerization protein 981 Gln-rich. MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) GCGGCAGGCACAGCAGCAGCAGC 0.458 8 584 --- --- --- --- FAM214A 56204 broad.mit.edu 37 15 52901069 52901069 + Frame_Shift_Del DEL T T - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr15:52901069delT ENST00000261844.7 - 6 2194 c.2042delA c.(2041-2043)atfs p.N681fs FAM214A_ENST00000546305.2_Frame_Shift_Del_p.N688fs NM_019600.2 NP_062546.2 Q32MH5 K1370_HUMAN family with sequence similarity 214, member A 681 TTTTGAGTCATTTTTTTTGGA 0.284 7 342 --- --- --- --- NARG2 79664 broad.mit.edu 37 15 60745782 60745782 + Frame_Shift_Del DEL A A - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr15:60745782delA ENST00000561114.1 - 9 1307 c.1145delT c.(1144-1146)tcfs p.F382fs NARG2_ENST00000439632.1_Intron|NARG2_ENST00000261520.4_Intron NM_001276385.1 NP_001263314.1 Q659A1 NARG2_HUMAN NMDA receptor regulated 2 0 nucleus breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 32 CCCTTAGGGGAAAAAAAAAGC 0.338 9 256 --- --- --- --- ARID3B 10620 broad.mit.edu 37 15 74888025 74888027 + In_Frame_Del DEL CAG CAG - rs141710149 TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr15:74888025_74888027delCAG ENST00000346246.5 + 9 1824_1826 c.1593_1595delCAG c.(1591-1596)gcc>gc p.AS531del NM_006465.2 NP_006456.1 Q8IVW6 ARI3B_HUMAN AT rich interactive domain 3B (BRIGHT-like) 532 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2) 14 gcagcagcgccagcagcagcagc 0.640 9 320 --- --- --- --- RP11-266O8.1 0 broad.mit.edu 37 15 93974510 93974510 + RNA DEL C C - rs57286078 TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr15:93974510delC ENST00000543286.1 + 0 545 TGGCTGGGTTCtttttttttt 0.433 10 186 --- --- --- --- DNM1P47 0 broad.mit.edu 37 15 102292971 102292974 + RNA DEL CTCA CTCA - rs75843814 TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr15:102292971_102292974delCTCA ENST00000561463.1 + 0 1017_1020 GATGCTGCTTCTCAGAGCTGCTGT 0.583 9 71 --- --- --- --- TIGD7 91151 broad.mit.edu 37 16 3350472 3350472 + Frame_Shift_Del DEL T T - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr16:3350472delT ENST00000396862.1 - 2 1971 c.143delA c.(142-144)atfs p.N48fs TIGD7_ENST00000268674.2_Frame_Shift_Del_p.N48fs NM_033208.3 NP_149985.2 Q6NT04 TIGD7_HUMAN tigger transposable element derived 7 48 HTH psq-type. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1) 12 TAACTTCTTATTTTTTTTAAT 0.358 7 789 --- --- --- --- RP11-420N3.2 0 broad.mit.edu 37 16 5313074 5313076 + RNA DEL GGT GGT - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr16:5313074_5313076delGGT ENST00000569895.1 + 0 304 GCAGggtgacggtggtggtggtg 0.483 10 418 --- --- --- --- PKD1P5 0 broad.mit.edu 37 16 18480898 18480898 + RNA DEL G G - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr16:18480898delG ENST00000542593.1 - 0 617 CTCCCATTCAGGGGCACCACC 0.657 10 46 --- --- --- --- RRN3P2 0 broad.mit.edu 37 16 29110406 29110406 + RNA DEL T T - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr16:29110406delT ENST00000564580.1 + 0 1098 TTAAAAAATCTTTTTTTTTTT 0.299 8 109 --- --- --- --- RRN3P2 0 broad.mit.edu 37 16 29113497 29113498 + RNA INS - - T rs11366120 TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr16:29113497_29113498insT ENST00000564580.1 + 0 1360 GAGGAGGTGGAttttttttttc 0.545 10 345 --- --- --- --- HERC2P4 0 broad.mit.edu 37 16 32182872 32182873 + RNA INS - - AG TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr16:32182872_32182873insAG ENST00000564730.1 - 0 15_16 TCTGTGGGAGCAGTCGCGATTT 0.559 11 391 --- --- --- --- NOB1 28987 broad.mit.edu 37 16 69782978 69782980 + In_Frame_Del DEL TCC TCC - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c 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 11 426 --- --- --- --- WDR81 124997 broad.mit.edu 37 17 1631341 1631343 + In_Frame_Del DEL GAG GAG - rs66598941 TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr17:1631341_1631343delGAG ENST00000409644.1 + 1 3088_3090 c.3088_3090delGAG c.(3088-3090)del p.E1033del WDR81_ENST00000437219.2_Intron|WDR81_ENST00000446363.1_Intron|WDR81_ENST00000309182.5_5'UTR|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000419248.1_Intron NM_001163809.1 NP_001157281.1 B3KXU1 B3KXU1_HUMAN WD repeat domain 81 305 cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1) 16 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) AGGGGCTGCTGAGGAGGAGGAGA 0.695 21 21 --- --- --- --- C17orf85 55421 broad.mit.edu 37 17 3721809 3721811 + In_Frame_Del DEL TCC TCC - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c 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 11 735 --- --- --- --- NUP88 4927 broad.mit.edu 37 17 5290964 5290964 + Frame_Shift_Del DEL T T - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr17:5290964delT ENST00000573584.1 - 13 2305 c.1796delA c.(1795-1797)agfs p.K600fs NM_002532.4 NP_002523.2 Q99567 NUP88_HUMAN nucleoporin 88kDa 600 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore transporter activity endometrium(4)|kidney(4)|large_intestine(4)|lung(3) 15 TAGTTGTTTCTTTTTTTGGTC 0.363 7 1638 --- --- --- --- PER1 5187 broad.mit.edu 37 17 8049759 8049761 + In_Frame_Del DEL AGG AGG - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr17:8049759_8049761delAGG ENST00000317276.4 - 16 2204_2206 c.1967_1969delCCT c.(1966-1971)tat>t p.SY656del PER1_ENST00000578089.1_5'UTR|PER1_ENST00000354903.5_In_Frame_Del_p.SY640del|PER1_ENST00000581082.1_In_Frame_Del_p.SY636del NM_002616.2 NP_002607.2 O15534 PER1_HUMAN period circadian clock 1 656 CSNK1E binding domain (By similarity).|Poly-Ser. circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 GAGGTGGTATAGGAGGAGGAGGA 0.586 T ETV6 """AML, CMML""" Other conserved DNA damage response genes 7 689 --- --- --- --- SLFN5 162394 broad.mit.edu 37 17 33591628 33591628 + Frame_Shift_Del DEL C C - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr17:33591628delC ENST00000299977.4 + 4 1713 c.1565delC c.(1564-1566)acfs p.T522fs SLFN5_ENST00000542451.1_Intron NM_144975.3 NP_659412.3 Q08AF3 SLFN5_HUMAN schlafen family member 5 522 cell differentiation ATP binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2) 34 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0191) AACTTCATGACCCCCCAGCAC 0.453 7 747 --- --- --- --- GAS2L2 246176 broad.mit.edu 37 17 34071994 34071996 + In_Frame_Del DEL TCC TCC - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c 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 7 427 --- --- --- --- RP11-115K3.2 0 broad.mit.edu 37 17 36214141 36214141 + RNA DEL A A - rs76035088 TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr17:36214141delA ENST00000590732.1 - 0 325 NR_024178.1 CAGCaaaattaaaaaaaaaaa 0.328 7 121 --- --- --- --- CDK12 51755 broad.mit.edu 37 17 37686901 37686901 + Frame_Shift_Del DEL C C - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr17:37686901delC ENST00000447079.4 + 14 3838 c.3805delC c.(3805-3807)ccfs p.P1270fs CDK12_ENST00000430627.2_Frame_Shift_Del_p.P1261fs NM_015083.1|NM_016507.2 NP_055898.1|NP_057591.2 Q9NYV4 CDK12_HUMAN cyclin-dependent kinase 12 1270 Poly-Pro. mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3) 70 GCCCCCTGAGCCCCCCGGACC 0.562 """Mis, N, F""" serous ovarian TCGA Ovarian(9;0.13) 7 2265 --- --- --- --- KRT10 3858 broad.mit.edu 37 17 38978766 38978768 + In_Frame_Del DEL TCC TCC - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c 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 15 237 --- --- --- --- KRTAP4-1 85285 broad.mit.edu 37 17 39340796 39340852 + In_Frame_Del DEL CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG - rs483929 by1000genomes TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG ENST00000398472.1 - 1 742_798 c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG c.(253-312)cgt>cg p.RPLCCQTTCHPSCGMSSCCR85del Q9BYQ7 KRA41_HUMAN keratin associated protein 4-1 85 18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL]. Missing (in allele KAP4.10). keratin filament p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2) kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 5 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) ACAGAGTGGACGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGGCGGCAGCAGC 0.646 15 517 --- --- --- --- CCDC103 388389 broad.mit.edu 37 17 42980014 42980015 + Frame_Shift_Del DEL AG AG - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr17:42980014_42980015delAG ENST00000417826.2 + 4 653_654 c.558_559delAG c.(556-561)gcagfs p.AE186fs FAM187A_ENST00000412523.2_Intron|CCDC103_ENST00000410006.2_Frame_Shift_Del_p.AE186fs|FAM187A_ENST00000331733.4_5'UTR NM_001258399.1|NM_213607.2 NP_001245328.1|NP_998772.1 Q8IW40 CC103_HUMAN coiled-coil domain containing 103 186 p.E187K(1) endometrium(1)|kidney(1)|large_intestine(3)|prostate(1)|skin(1) 7 Prostate(33;0.109) TGAGCCGGGCAGAGAGAGAGAG 0.644 9 375 --- --- --- --- RP11-798G7.5 0 broad.mit.edu 37 17 43591984 43591985 + RNA INS - - G TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr17:43591984_43591985insG ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA GTGGGTCATGCGGAGCGAGTTT 0.411 37 364 --- --- --- --- RP11-798G7.5 0 broad.mit.edu 37 17 43596433 43596433 + RNA DEL T T - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr17:43596433delT ENST00000253803.2 + 0 267 TTTTTGCCGGTTTTGGCCTAC 0.478 13 4256 --- --- --- --- CDC27 996 broad.mit.edu 37 17 45219355 45219355 + Frame_Shift_Del DEL C C - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr17:45219355delC ENST00000066544.3 - 12 1508 c.1415delG c.(1414-1416)gtfs p.G472fs CDC27_ENST00000527547.1_Frame_Shift_Del_p.G471fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.G411fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.G478fs NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 472 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 AGCTAAATAACCTTTCCCCAT 0.368 15 936 --- --- --- --- CDC27 996 broad.mit.edu 37 17 45219612 45219612 + Frame_Shift_Del DEL A A - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr17:45219612delA ENST00000066544.3 - 11 1454 c.1361delT c.(1360-1362)cafs p.L454fs CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 454 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 TGCTTTTTGTAGATTAAAGGC 0.308 27 189 --- --- --- --- HOXB2 3212 broad.mit.edu 37 17 46622130 46622132 + In_Frame_Del DEL AGG AGG - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr17:46622130_46622132delAGG ENST00000330070.4 - 1 1309_1311 c.142_144delCCT c.(142-144)del p.P48del HOXB-AS1_ENST00000504972.3_RNA|HOXB-AS1_ENST00000435312.1_RNA NM_002145.3 NP_002136.1 P14652 HXB2_HUMAN homeobox B2 48 blood circulation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 11 TTTGCTCGAAAGGAGGAGGAGGA 0.596 9 508 --- --- --- --- TOB1 10140 broad.mit.edu 37 17 48940610 48940612 + In_Frame_Del DEL GTG GTG - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr17:48940610_48940612delGTG ENST00000499247.2 - 2 1200_1202 c.767_769delCAC c.(766-771)cag>c p.PQ256del TOB1_ENST00000268957.3_In_Frame_Del_p.PQ256del NM_001243885.1|NM_005749.3 NP_001230814.1|NP_005740.1 P50616 TOB1_HUMAN transducer of ERBB2, 1 256 Poly-Pro. negative regulation of cell proliferation SH3/SH2 adaptor activity breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 BRCA - Breast invasive adenocarcinoma(22;1.09e-08) tgttgctgctgtggtggtggtgg 0.517 8 240 --- --- --- --- BZRAP1 9256 broad.mit.edu 37 17 56386383 56386384 + Frame_Shift_Ins INS - - T TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr17:56386383_56386384insT ENST00000355701.3 - 22 5119_5120 c.4249_4250insA c.(4249-4251)ccgfs p.P1417fs BZRAP1_ENST00000343736.4_Frame_Shift_Ins_p.P1417fs|BZRAP1_ENST00000268893.6_Frame_Shift_Ins_p.P1357fs NM_001261835.1|NM_004758.3 NP_001248764.1|NP_004749.2 O95153 RIMB1_HUMAN benzodiazapine receptor (peripheral) associated protein 1 1417 mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) CCGCCTGCGGCTTGGGGGCTTC 0.653 166 1111 --- --- --- --- DDX5 1655 broad.mit.edu 37 17 62496298 62496298 + Frame_Shift_Del DEL T T - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr17:62496298delT ENST00000225792.5 - 13 1989 c.1588delA c.(1588-1590)ctfs p.T530fs DDX5_ENST00000578804.1_Frame_Shift_Del_p.T530fs|DDX5_ENST00000580026.1_5'UTR|DDX5_ENST00000450599.2_Frame_Shift_Del_p.T451fs 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 7 1527 --- --- --- --- BPTF 2186 broad.mit.edu 37 17 65940454 65940456 + In_Frame_Del DEL CAC CAC - rs143937013 TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr17:65940454_65940456delCAC ENST00000321892.4 + 22 7105_7107 c.7044_7046delCAC c.(7042-7047)agc>ag p.ST2348del BPTF_ENST00000306378.6_In_Frame_Del_p.ST2222del|BPTF_ENST00000424123.3_In_Frame_Del_p.ST2209del|BPTF_ENST00000335221.5_In_Frame_Del_p.ST2348del Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 2348 Thr-rich. brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) CCACAGCCAGCACCACCACCACC 0.542 11 677 --- --- --- --- LRRC37A16P 0 broad.mit.edu 37 17 66141017 66141017 + RNA DEL C C - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr17:66141017delC ENST00000590019.1 - 0 70 AAGATTTCTACAAAAAAAAAA 0.323 7 287 --- --- --- --- SRP68 6730 broad.mit.edu 37 17 74068528 74068530 + In_Frame_Del DEL GCC GCC - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr17:74068528_74068530delGCC ENST00000307877.2 - 1 204_206 c.43_45delGGC c.(43-45)del p.G15del SRP68_ENST00000539137.1_In_Frame_Del_p.G15del|SRP68_ENST00000355113.5_5'UTR NM_014230.3 NP_055045.2 Q9UHB9 SRP68_HUMAN signal recognition particle 68kDa 15 Poly-Gly. Missing (in Ref. 1). response to drug cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting RNA binding|signal recognition particle binding NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3) 23 cgccgccactgccgccgccgccg 0.709 7 407 --- --- --- --- TTC39C 125488 broad.mit.edu 37 18 21662914 21662914 + Frame_Shift_Del DEL T T - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr18:21662914delT ENST00000317571.3 + 6 1089 c.853delT c.(853-855)ttfs p.F286fs TTC39C_ENST00000304621.6_Frame_Shift_Del_p.F225fs|RP11-403A21.3_ENST00000578443.1_RNA NM_001135993.1 NP_001129465.1 Q8N584 TT39C_HUMAN tetratricopeptide repeat domain 39C 286 binding breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1) 19 AGTCCGCCCGTTTTTTGCCTT 0.413 7 884 --- --- --- --- OSBPL1A 114876 broad.mit.edu 37 18 21745096 21745097 + Frame_Shift_Ins INS - - T TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr18:21745096_21745097insT ENST00000319481.3 - 27 2888_2889 c.2682_2683insA c.(2680-2685)aagactfs p.T895fs OSBPL1A_ENST00000399443.3_Frame_Shift_Ins_p.T382fs|OSBPL1A_ENST00000357041.4_Frame_Shift_Ins_p.T513fs NM_080597.3 NP_542164.2 Q9BXW6 OSBL1_HUMAN oxysterol binding protein-like 1A 895 cholesterol metabolic process|lipid transport|vesicle-mediated transport phospholipid binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 36 all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17) TCCTCAAGTCGTTTTTTTTCTT 0.460 10 1145 --- --- --- --- TCEB3CL 728929 broad.mit.edu 37 18 44549025 44549026 + Frame_Shift_Ins INS - - GC TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr18:44549025_44549026insGC ENST00000451265.1 - 1 1508_1509 c.1273_1274insGC c.(1273-1275)gcgfs p.A425fs KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron NM_001100817.1 NP_001094287.1 transcription elongation factor B polypeptide 3C-like central_nervous_system(1)|lung(1)|prostate(1) 3 TCGCAGCCGCTGCTCTCGGGCG 0.554 7 122 --- --- --- --- TNFSF9 8744 broad.mit.edu 37 19 6531149 6531151 + In_Frame_Del DEL GCT GCT - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr19:6531149_6531151delGCT ENST00000245817.3 + 1 140_142 c.102_104delGCT c.(100-105)ggg>gg p.GL34del NM_003811.3 NP_003802.1 P41273 TNFL9_HUMAN tumor necrosis factor (ligand) superfamily, member 9 34 apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction extracellular space|integral to membrane cytokine activity|tumor necrosis factor receptor binding central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1) 5 TGGTCGCGGGgctgctgctgctg 0.768 8 331 --- --- --- --- YIPF2 78992 broad.mit.edu 37 19 11038362 11038364 + In_Frame_Del DEL GCT GCT - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c 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 12 448 --- --- --- --- ZNF442 79973 broad.mit.edu 37 19 12461741 12461741 + Frame_Shift_Del DEL A A - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr19:12461741delA ENST00000242804.4 - 6 1240 c.658delT c.(658-660)ggfs p.W220fs ZNF442_ENST00000438182.1_Frame_Shift_Del_p.W151fs NM_030824.2 NP_110451.1 Q9H7R0 ZN442_HUMAN zinc finger protein 442 220 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 31 AAACTAGGCCAAAAAAAGGCT 0.403 7 1182 --- --- --- --- HAUS8 93323 broad.mit.edu 37 19 17160706 17160707 + Frame_Shift_Del DEL GA GA - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr19:17160706_17160707delGA ENST00000593360.1 - 10 3044_3045 c.1026_1027delTC c.(1024-1029)tcgtfs p.SR342fs HAUS8_ENST00000448593.2_Frame_Shift_Del_p.SR402fs|HAUS8_ENST00000253669.5_Frame_Shift_Del_p.SR403fs Q9BT25 HAUS8_HUMAN HAUS augmin-like complex, subunit 8 403 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle pole endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1) 12 CTCCCTGAACGAGAGAGAGAGG 0.495 9 1587 --- --- --- --- SBSN 374897 broad.mit.edu 37 19 36019046 36019047 + Frame_Shift_Del DEL CT CT - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr19:36019046_36019047delCT ENST00000452271.2 - 1 165_166 c.137_138delAG c.(136-138)gfs p.E46fs SBSN_ENST00000518157.1_Frame_Shift_Del_p.E46fs NM_001166034.1 NP_001159506.1 Q6UWP8 SBSN_HUMAN suprabasin 46 extracellular region p.E46fs*27(1) large_intestine(5)|lung(6)|ovary(1)|prostate(2) 14 all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) CCTTGCCCACCTCTCTCTCTGC 0.579 7 1024 --- --- --- --- ATP4A 495 broad.mit.edu 37 19 36054349 36054351 + In_Frame_Del DEL CTT CTT - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c 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 7 1996 --- --- --- --- SPRED3 399473 broad.mit.edu 37 19 38882864 38882866 + In_Frame_Del DEL CCT CCT - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr19:38882864_38882866delCCT ENST00000587013.1 + 3 569_571 c.491_493delCCT c.(490-495)ccc>c p.PS164del SPRED3_ENST00000586301.1_In_Frame_Del_p.PS120del|SPRED3_ENST00000587564.2_3'UTR|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 8 181 --- --- --- --- TIMM50 92609 broad.mit.edu 37 19 39972604 39972604 + Frame_Shift_Del DEL A A - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr19:39972604delA ENST00000314349.4 + 2 632 c.499delA c.(499-501)aafs p.K168fs TIMM50_ENST00000599794.1_Intron|TIMM50_ENST00000607714.1_Frame_Shift_Del_p.K65fs|TIMM50_ENST00000544017.1_5'UTR NM_001001563.1 NP_001001563.1 Q3ZCQ8 TIM50_HUMAN translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae) 65 FCP1 homology. mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1) 14 all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159) Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) CAGCTATGCCAAAAAAGTTGC 0.607 10 1041 --- --- --- --- CD3EAP 10849 broad.mit.edu 37 19 45911871 45911872 + Frame_Shift_Ins INS - - A TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr19:45911871_45911872insA ENST00000309424.3 + 3 1133_1134 c.645_646insA c.(643-648)aaaaaafs p.KK215fs ERCC1_ENST00000300853.3_3'UTR|ERCC1_ENST00000423698.2_3'UTR|CD3EAP_ENST00000589804.1_Frame_Shift_Ins_p.KK217fs NM_012099.1 NP_036231.1 O15446 RPA34_HUMAN CD3e molecule, epsilon associated protein 215 Poly-Lys. rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway chromosome|RNA polymerase I transcription factor complex DNA-directed RNA polymerase activity p.K215N(1) breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1) 11 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0251) AGAAGAAGAAGAAAAAAAATCA 0.589 7 1074 --- --- --- --- DHX34 9704 broad.mit.edu 37 19 47883158 47883160 + In_Frame_Del DEL GGA GGA - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c 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 12 382 --- --- --- --- NAPSA 9476 broad.mit.edu 37 19 50868836 50868838 + In_Frame_Del DEL GCA GCA - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c 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 7 187 --- --- --- --- SIGLEC7 27036 broad.mit.edu 37 19 51645628 51645630 + Translation_Start_Site DEL TGC TGC - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr19:51645628_51645630delTGC ENST00000317643.6 + 0 71_73 SIGLEC7_ENST00000305628.7_Start_Codon_Del|SIGLEC7_ENST00000600577.1_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 7 224 --- --- --- --- CNOT3 4849 broad.mit.edu 37 19 54649671 54649671 + Frame_Shift_Del DEL T T - rs36665 byFrequency TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr19:54649671delT ENST00000406403.1 + 8 2332 c.729delT c.(727-729)ccfs p.P244fs CNOT3_ENST00000358389.3_Frame_Shift_Del_p.P63fs|CNOT3_ENST00000221232.5_Frame_Shift_Del_p.P244fs O75175 CNOT3_HUMAN CCR4-NOT transcription complex, subunit 3 244 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3) 28 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CCACCTCCCCTCCCAGCCACA 0.632 10 556 --- --- --- --- LILRB1 0 broad.mit.edu 37 19 55146148 55146150 + In_Frame_Del DEL CTC CTC - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr19:55146148_55146150delCTC ENST00000396331.1 + 11 1774_1776 c.1417_1419delCTC c.(1417-1419)del p.L479del LILRB1_ENST00000396317.1_In_Frame_Del_p.L463del|LILRB1_ENST00000448689.1_In_Frame_Del_p.L479del|LILRB1_ENST00000324602.7_In_Frame_Del_p.L480del|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396327.3_In_Frame_Del_p.L480del|LILRB1_ENST00000427581.2_In_Frame_Del_p.L529del|LILRB1_ENST00000396332.4_In_Frame_Del_p.L479del|LILRB1_ENST00000434867.2_In_Frame_Del_p.L479del|LILRB1_ENST00000418536.2_In_Frame_Del_p.L463del|LILRB1_ENST00000396315.1_In_Frame_Del_p.L480del|LILRB1_ENST00000396321.2_In_Frame_Del_p.L479del NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 479 regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) CAtcctactgctcctcctcctcc 0.581 HNSCC(37;0.09) 9 490 --- --- --- --- PANK2 80025 broad.mit.edu 37 20 3893120 3893120 + Frame_Shift_Del DEL T T - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr20:3893120delT ENST00000497424.1 + 4 689 c.378delT c.(376-378)acfs p.T126fs PANK2_ENST00000316562.4_Frame_Shift_Del_p.T417fs|PANK2_ENST00000336066.3_3'UTR NM_024960.4|NM_153640.2 NP_079236.3|NP_705904.1 Q9BZ23 PANK2_HUMAN pantothenate kinase 2 417 G -> A (in dbSNP:rs3737084). cell death|coenzyme A biosynthetic process|pantothenate metabolic process mitochondrial intermembrane space|nucleus ATP binding|pantothenate kinase activity|protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 GAGGAGGAACTTTTTTTGGTC 0.343 7 1443 --- --- --- --- CHGB 1114 broad.mit.edu 37 20 5903283 5903285 + In_Frame_Del DEL GAG GAG - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr20:5903283_5903285delGAG ENST00000378961.4 + 4 697_699 c.493_495delGAG c.(493-495)del p.E169del NM_001819.2 NP_001810.2 P05060 SCG1_HUMAN chromogranin B (secretogranin 1) 169 Poly-Glu. extracellular region hormone activity breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 47 GAGAGAGGATGAGGAGGAGGAGG 0.532 9 295 --- --- --- --- FRG1B 0 broad.mit.edu 37 20 29628310 29628312 + In_Frame_Del DEL AGG AGG - rs111939959 TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr20:29628310_29628312delAGG ENST00000278882.3 + 6 692_694 c.312_314delAGG c.(310-315)gca>gc p.AG104del FRG1B_ENST00000439954.2_In_Frame_Del_p.AG109del|FRG1B_ENST00000358464.4_In_Frame_Del_p.AG104del endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTAAAACAGCAGGAGAAGAAGAA 0.355 7 691 --- --- --- --- BCL2L1 598 broad.mit.edu 37 20 30309591 30309591 + Frame_Shift_Del DEL A A - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr20:30309591delA ENST00000307677.4 - 2 841 c.431delT c.(430-432)tcfs p.F144fs BCL2L1_ENST00000420653.1_Frame_Shift_Del_p.F144fs|BCL2L1_ENST00000376062.2_Frame_Shift_Del_p.F144fs|BCL2L1_ENST00000376055.4_Intron NM_138578.1 NP_612815.1 Q07817 B2CL1_HUMAN BCL2-like 1 144 induction of apoptosis by intracellular signals|negative regulation of establishment of protein localization in plasma membrane|negative regulation of survival gene product expression|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|release of cytochrome c from mitochondria|response to cytokine stimulus integral to membrane|mitochondrial outer membrane|nuclear membrane BH3 domain binding|identical protein binding breast(1)|central_nervous_system(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_cancers(5;3.47e-06)|all_epithelial(3;1.83e-06)|Lung NSC(7;2.08e-06)|all_lung(7;3.63e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198) Epithelial(4;2.97e-06)|all cancers(5;3.21e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00052)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264) GCCGAAGGAGAAAAAGGCCAC 0.542 7 1891 --- --- --- --- IFNGR2 3460 broad.mit.edu 37 21 34799292 34799292 + Frame_Shift_Del DEL T T - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr21:34799292delT ENST00000290219.6 + 4 1162 c.514delT c.(514-516)ttfs p.F173fs IFNGR2_ENST00000381995.1_Frame_Shift_Del_p.F192fs|IFNGR2_ENST00000405436.1_Frame_Shift_Del_p.F94fs NM_005534.3 NP_005525.2 P38484 INGR2_HUMAN interferon gamma receptor 2 (interferon gamma transducer 1) 173 Fibronectin type-III 2. regulation of interferon-gamma-mediated signaling pathway|response to virus endoplasmic reticulum|integral to plasma membrane interferon-gamma receptor activity NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1) 13 Interferon gamma-1b(DB00033) CTCCACGGCCTTTTTTTGTTA 0.458 9 2325 --- --- --- --- CBR3 874 broad.mit.edu 37 21 37510175 37510175 + Frame_Shift_Del DEL T T - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr21:37510175delT ENST00000290354.5 + 2 623 c.342delT c.(340-342)aafs p.N114fs CBR3-AS1_ENST00000413862.1_RNA|CBR3-AS1_ENST00000453159.1_RNA NM_001236.3 NP_001227.1 O75828 CBR3_HUMAN carbonyl reductase 3 114 cytosol|nucleus carbonyl reductase (NADPH) activity|NADPH binding kidney(1)|large_intestine(1)|lung(1) 3 TGAAGACAAATTTTTTTGCCA 0.408 7 692 --- --- --- --- SLC19A1 6573 broad.mit.edu 37 21 46951916 46951918 + In_Frame_Del DEL CAG CAG - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr21:46951916_46951918delCAG ENST00000311124.4 - 3 486_488 c.334_336delCTG c.(334-336)del p.L112del SLC19A1_ENST00000567670.1_In_Frame_Del_p.L112del|SLC19A1_ENST00000485649.2_In_Frame_Del_p.L72del|SLC19A1_ENST00000380010.4_In_Frame_Del_p.L112del NM_194255.2 NP_919231.1 P41440 S19A1_HUMAN solute carrier family 19 (folate transporter), member 1 112 folic acid metabolic process integral to plasma membrane|membrane fraction folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 10 Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172) CCGAGTGGCCCAGCAGCAGCAGC 0.645 9 194 --- --- --- --- TPTEP1 0 broad.mit.edu 37 22 17127506 17127507 + RNA INS - - A TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr22:17127506_17127507insA ENST00000426585.1 + 0 442 AGGGCCTAGAGAAAAAAAAAAT 0.421 8 458 --- --- --- --- LL22NC03-80A10.6 0 broad.mit.edu 37 22 22661172 22661173 + RNA INS - - C rs7410785 TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr22:22661172_22661173insC ENST00000426066.1 + 0 264_265 NR_027293.1 CATACAGGTTTTCCCCCCCCAC 0.411 8 259 --- --- --- --- LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664078 22664079 + RNA DEL TT TT - rs114253646 by1000genomes TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr22:22664078_22664079delTT ENST00000426066.1 + 0 623 NR_027293.1 TGTGTGTGTGTTTTTATCTTGC 0.381 7 519 --- --- --- --- ZNRF3 84133 broad.mit.edu 37 22 29445819 29445821 + In_Frame_Del DEL CAG CAG - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr22:29445819_29445821delCAG ENST00000544604.2 + 8 1825_1827 c.1650_1652delCAG c.(1648-1653)gac>ga p.DS550del ZNRF3_ENST00000332811.4_In_Frame_Del_p.DS450del|ZNRF3_ENST00000406323.3_In_Frame_Del_p.DS450del|ZNRF3_ENST00000402174.1_In_Frame_Del_p.DS450del NM_001206998.1 NP_001193927.1 Q9ULT6 ZNRF3_HUMAN zinc and ring finger 3 550 integral to membrane zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 28 CAGgcagcgacagcagcagcagc 0.660 9 430 --- --- --- --- MYH9 4627 broad.mit.edu 37 22 36689419 36689421 + In_Frame_Del DEL CCT CCT - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c 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 7 534 --- --- --- --- MYH9 4627 broad.mit.edu 37 22 36696948 36696950 + In_Frame_Del DEL CTC CTC - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr22:36696948_36696950delCTC ENST00000216181.5 - 22 3015_3017 c.2785_2787delGAG c.(2785-2787)del p.E929del NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 929 actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 GCTGGCAGCGCTCCTCCTCCTCC 0.665 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 10 737 --- --- --- --- TCF20 6942 broad.mit.edu 37 22 42610948 42610948 + Frame_Shift_Del DEL G G - rs138734341 TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr22:42610948delG ENST00000359486.3 - 1 500 c.364delC c.(364-366)agfs p.Q122fs TCF20_ENST00000335626.4_Frame_Shift_Del_p.Q122fs NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 122 Q -> R (in Ref. 1). 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 CTGCTCCCCTGGGGGGGTCCA 0.567 7 1161 --- --- --- --- ARFGAP3 26286 broad.mit.edu 37 22 43218401 43218401 + Frame_Shift_Del DEL T T - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr22:43218401delT ENST00000263245.5 - 9 906 c.687delA c.(685-687)aafs p.K229fs ARFGAP3_ENST00000437119.2_Frame_Shift_Del_p.K185fs|ARFGAP3_ENST00000429508.2_Frame_Shift_Del_p.K157fs 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 9 1007 --- --- --- --- BIK 638 broad.mit.edu 37 22 43525245 43525247 + In_Frame_Del DEL GCT GCT - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr22:43525245_43525247delGCT ENST00000216115.2 + 5 480_482 c.417_419delGCT c.(415-420)gcg>gc p.AL139del NM_001197.4 NP_001188.1 Q13323 BIK_HUMAN BCL2-interacting killer (apoptosis-inducing) 139 Leucine-zipper (Potential). apoptosis|induction of apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria endomembrane system|integral to membrane breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1) 5 Ovarian(80;0.0694) tgctgctggcgctgctgctgctg 0.724 13 492 --- --- --- --- PLXNB2 23654 broad.mit.edu 37 22 50717108 50717109 + Frame_Shift_Ins INS - - GGAGCCC TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr22:50717108_50717109insGGAGCCC ENST00000449103.1 - 29 4703_4704 c.4563_4564insGGGCTCC c.(4561-4566)tccagcfs p.S1522fs PLXNB2_ENST00000359337.4_Frame_Shift_Ins_p.S1522fs O15031 PLXB2_HUMAN plexin B2 1522 regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) ATCTGCGCTGTGGAGCCCGGAC 0.639 16 119 --- --- --- --- RAI2 10742 broad.mit.edu 37 X 17818550 17818550 + Frame_Shift_Del DEL A A - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chrX:17818550delA ENST00000545871.1 - 3 2041 c.1581delT c.(1579-1581)ttfs p.F527fs RAI2_ENST00000331511.1_Frame_Shift_Del_p.F527fs|RAI2_ENST00000451717.1_Frame_Shift_Del_p.F527fs|RAI2_ENST00000415486.3_Frame_Shift_Del_p.F477fs|RAI2_ENST00000360011.1_Frame_Shift_Del_p.F527fs NM_001172739.1|NM_001172743.1 NP_001166210.1|NP_001166214.1 Q9Y5P3 RAI2_HUMAN retinoic acid induced 2 527 embryo development breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1) 22 Hepatocellular(33;0.183) ACTTTCTTGGAAAAAAGGTGG 0.333 10 3413 --- --- --- --- SCML2 10389 broad.mit.edu 37 X 18283726 18283726 + Frame_Shift_Del DEL T T - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chrX:18283726delT ENST00000251900.4 - 8 1086 c.927delA c.(925-927)aafs p.K309fs SCML2_ENST00000398048.3_Frame_Shift_Del_p.K45fs NM_006089.2 NP_006080.1 Q9UQR0 SCML2_HUMAN sex comb on midleg-like 2 (Drosophila) 309 anatomical structure morphogenesis PcG protein complex DNA binding|sequence-specific DNA binding transcription factor activity breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 36 Hepatocellular(33;0.183) AGTTTGGACCTTTTTTCCTTG 0.358 8 1325 --- --- --- --- RGN 9104 broad.mit.edu 37 X 46952297 46952311 + Splice_Site DEL TAACTGGTCTGGGGG TAACTGGTCTGGGGG - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chrX:46952297_46952311delTAACTGGTCTGGGGG ENST00000397180.1 + 8 1820_1834 c.849_splice c.e8-1 p.ITGLGV284_splice RGN_ENST00000457380.1_Splice_Site_p.ITGLGV212_splice|RGN_ENST00000352078.4_Splice_Site_p.ITGLGV284_splice|RGN_ENST00000336169.3_Splice_Site_p.ITGLGV284_splice NM_152869.2 NP_690608.1 Q15493 RGN_HUMAN regucalcin 284 cellular calcium ion homeostasis|positive regulation of ATPase activity|regulation of calcium-mediated signaling cytoplasm|nucleus calcium ion binding|enzyme regulator activity|gluconolactonase activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1) 9 TTTCAACAGATAACTGGTCTGGGGGTCAAAGGAAT 0.414 8 104 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76812945 76812947 + In_Frame_Del DEL TCT TCT - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chrX:76812945_76812947delTCT ENST00000373344.5 - 30 6888_6890 c.6674_6676delAGA c.(6673-6678)agg>a p.KR2225del ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_In_Frame_Del_p.KR2187del NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 2225 Poly-Lys. DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) GGAGTATCCCTCTTCTTCTTCTT 0.365 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 8 1069 --- --- --- --- GPRASP2 114928 broad.mit.edu 37 X 101972053 101972053 + Frame_Shift_Del DEL A A - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chrX:101972053delA ENST00000543253.1 + 5 3175 c.2256delA c.(2254-2256)gcfs p.A752fs GPRASP2_ENST00000535209.1_Frame_Shift_Del_p.A752fs|GPRASP2_ENST00000332262.5_Frame_Shift_Del_p.A752fs NM_001004051.3|NM_001184874.2|NM_001184876.2 NP_001004051.1|NP_001171803.1|NP_001171805.1 G protein-coupled receptor associated sorting protein 2 breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 30 CTGCTGTGGCAAAAAAACTAT 0.343 8 1129 --- --- --- --- NKAP 79576 broad.mit.edu 37 X 119072752 119072753 + Frame_Shift_Del DEL TC TC - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chrX:119072752_119072753delTC ENST00000371410.3 - 2 573_574 c.407_408delGA c.(406-408)afs p.R136fs NM_024528.3 NP_078804.2 Q8N5F7 NKAP_HUMAN NFKB activating protein 136 negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent cytoplasm|nucleus chromatin binding|protein binding breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1) 20 ATTCTCCAATTCTCTCTCTCTC 0.322 8 843 --- --- --- --- ZBTB33 10009 broad.mit.edu 37 X 119388276 119388278 + In_Frame_Del DEL GAT GAT - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chrX:119388276_119388278delGAT ENST00000326624.2 + 2 1234_1236 c.1006_1008delGAT c.(1006-1008)del p.D340del ZBTB33_ENST00000557385.1_In_Frame_Del_p.D340del NM_006777.3 NP_006768.1 Q86T24 KAISO_HUMAN zinc finger and BTB domain containing 33 340 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|nucleolus|plasma membrane DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 26 GGAAATAATAGATGATGATGATG 0.433 8 1039 --- --- --- --- HS6ST2 90161 broad.mit.edu 37 X 131762582 131762582 + Frame_Shift_Del DEL A A - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chrX:131762582delA ENST00000370836.2 - 4 1902 c.1487delT c.(1486-1488)tgfs p.L496fs HS6ST2_ENST00000370837.1_Frame_Shift_Del_p.L350fs|HS6ST2_ENST00000521489.1_Frame_Shift_Del_p.L536fs|HS6ST2_ENST00000370833.2_Frame_Shift_Del_p.L390fs|HS6ST2_ENST00000406696.3_Frame_Shift_Del_p.L222fs NM_147175.3 NP_671704.3 Q96MM7 H6ST2_HUMAN heparan sulfate 6-O-sulfotransferase 2 496 integral to membrane sulfotransferase activity central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2) 9 Acute lymphoblastic leukemia(192;0.000127) ATACCTCTGCAAAAAAAGGTC 0.453 7 1516 --- --- --- --- GPR112 139378 broad.mit.edu 37 X 135455156 135455156 + Frame_Shift_Del DEL G G - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chrX:135455156delG ENST00000394143.1 + 15 8000 c.7709delG c.(7708-7710)cgfs p.R2570fs GPR112_ENST00000370652.1_Frame_Shift_Del_p.R2570fs|GPR112_ENST00000287534.4_Frame_Shift_Del_p.R2368fs|GPR112_ENST00000394141.1_Frame_Shift_Del_p.R2365fs|GPR112_ENST00000412101.1_Frame_Shift_Del_p.R2365fs NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 2570 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.R2570L(1) NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) GCTGTGCTGCGGGGGGACCAC 0.532 11 2780 --- --- --- --- AFF2 2334 broad.mit.edu 37 X 147733548 147733548 + Frame_Shift_Del DEL A A - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chrX:147733548delA ENST00000370460.2 + 2 555 c.76delA c.(76-78)aafs p.K27fs AFF2_ENST00000342251.3_Frame_Shift_Del_p.K27fs|AFF2_ENST00000370457.5_Frame_Shift_Del_p.K27fs|AFF2_ENST00000370458.1_Frame_Shift_Del_p.K27fs NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 27 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) TAGTGCACTTAAAAAAAGGGA 0.378 8 1567 --- --- --- --- HMGB3 3149 broad.mit.edu 37 X 150156358 150156360 + In_Frame_Del DEL GAG GAG - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chrX:150156358_150156360delGAG ENST00000325307.7 + 5 670_672 c.574_576delGAG c.(574-576)del p.E198del HMGB3_ENST00000448905.2_In_Frame_Del_p.E198del NM_005342.2 NP_005333.2 O15347 HMGB3_HUMAN high mobility group box 3 198 Asp/Glu-rich (acidic). DNA recombination|multicellular organismal development chromosome|nucleus DNA bending activity|double-stranded DNA binding p.E192E(1) endometrium(3)|large_intestine(2)|lung(2)|skin(1) 8 Acute lymphoblastic leukemia(192;6.56e-05) ggaggaagaagaggaggaggagg 0.443 8 581 --- --- --- --- MAGEA10 4109 broad.mit.edu 37 X 151303906 151303908 + In_Frame_Del DEL AGG AGG - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chrX:151303906_151303908delAGG ENST00000370323.4 - 4 501_503 c.185_187delCCT c.(184-189)tgc>t p.SC62del RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_In_Frame_Del_p.SC62del NM_001251828.1|NM_021048.4 NP_001238757.1|NP_066386.2 P43363 MAGAA_HUMAN melanoma antigen family A, 10 62 Poly-Ser. endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) AGAGGATAGCaggaggaggagga 0.562 12 958 --- --- --- ---