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 BTN2A3P 0 broad.mit.edu 37 6 26422353 26422353 + RNA SNP C C T rs141013110 TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr6:26422353C>T ENST00000466808.2 + 0 7 p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 8 318 0 0 1 0 0 DCAF6 55827 broad.mit.edu 37 1 167960489 167960489 + Silent SNP C C T TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr1:167960489C>T ENST00000367840.3 + 6 694 c.600C>T c.(598-600)tgC>tgT p.C200C DCAF6_ENST00000470919.1_3'UTR|DCAF6_ENST00000367843.3_Silent_p.C200C|DCAF6_ENST00000432587.2_Silent_p.C169C|DCAF6_ENST00000312263.6_Silent_p.C200C NM_001198956.1 NP_001185885.1 Q58WW2 DCAF6_HUMAN DDB1 and CUL4 associated factor 6 200 positive regulation of transcription from RNA polymerase II promoter CUL4 RING ubiquitin ligase complex|nucleus ligand-dependent nuclear receptor transcription coactivator activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 TTGCTATTTGCCCACCAATAC 0.393000 5 521 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274416 39274416 + Missense_Mutation SNP C C T rs408579 by1000genomes TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr17:39274416C>T ENST00000391413.2 - 1 190 c.152G>A c.(151-153)aGg>aAg p.R51K NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 51 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. Missing (in allele KAP4.14). keratin filament p.R51K(1) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) GCACTGGGGCCTGCAGCAGCT 0.672000 6 319 0 0 1 0 0 HMGB3 3149 broad.mit.edu 37 X 150156360 150156360 + Silent SNP G G A TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chrX:150156360G>A ENST00000325307.7 + 5 672 c.576G>A c.(574-576)gaG>gaA p.E192E HMGB3_ENST00000448905.2_Silent_p.E192E NM_005342.2 NP_005333.2 O15347 HMGB3_HUMAN high mobility group box 3 192 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) aggaagaagaggaggaggagg 0.443000 6 252 0 0 1 0 0 CROCC 9696 broad.mit.edu 37 1 17266463 17266463 + Silent SNP C C T TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr1:17266463C>T ENST00000375541.5 + 13 1752 c.1683C>T c.(1681-1683)agC>agT p.S561S CROCC_ENST00000467938.1_3'UTR NM_014675.3 NP_055490.3 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil, rootletin 561 cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1) 62 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) ACAGCGAGAGCGAGCGGCGGG 0.692000 7 449 0 0 1 0 0 AFF3 3899 broad.mit.edu 37 2 100210742 100210742 + Missense_Mutation SNP C C T TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr2:100210742C>T ENST00000317233.4 - 14 1616 c.1381G>A c.(1381-1383)Gca>Aca p.A461T AFF3_ENST00000409579.1_Missense_Mutation_p.A486T|AFF3_ENST00000409236.1_Missense_Mutation_p.A461T|AFF3_ENST00000356421.2_Missense_Mutation_p.A486T NM_002285.2 NP_002276.2 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 461 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.A486T(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 TTAGAGGATGCCGGTTCAGCC 0.443000 7 899 0 0 1 0 0 TAS2R19 259294 broad.mit.edu 37 12 11174543 11174543 + Missense_Mutation SNP G G A TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr12:11174543G>A ENST00000390673.2 - 1 676 c.628C>T c.(628-630)Cgg>Tgg p.R210W PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron NM_176888.1 NP_795369.1 P59542 T2R19_HUMAN taste receptor, type 2, member 19 210 sensory perception of taste integral to membrane G-protein coupled receptor activity p.R210W(1) breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1) 17 CTATGGAGCCGCATCTTCTTG 0.403000 7 701 0 0 1 0 0 ZNF717 100131827 broad.mit.edu 37 3 75790798 75790798 + Translation_Start_Site SNP G G A TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr3:75790798G>A ENST00000478296.1 - 0 273 ZNF717_ENST00000400845.3_Silent_p.D42D|ZNF717_ENST00000422325.1_Silent_p.D49D|ZNF717_ENST00000477374.1_Silent_p.D49D|ZNF717_ENST00000491507.1_5'UTR C9JSV9 C9JSV9_HUMAN zinc finger protein 717 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7) 19 CCAGCATCACGTCCCTGTACA 0.502000 4 22 0 0 1 0 0 TNPO1 3842 broad.mit.edu 37 5 72179007 72179007 + Missense_Mutation SNP T T A rs1057846 TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr5:72179007T>A ENST00000337273.5 + 11 1524 c.1098T>A c.(1096-1098)gaT>gaA p.D366E TNPO1_ENST00000506351.2_Missense_Mutation_p.D358E|TNPO1_ENST00000454282.1_Missense_Mutation_p.D316E|TNPO1_ENST00000523768.1_Missense_Mutation_p.D316E NM_002270.3 NP_002261.3 Q92973 TNPO1_HUMAN transportin 1 366 Asp/Glu-rich (acidic). interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation cytosol|nucleus nuclear localization sequence binding|protein binding|protein transporter activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 Lung NSC(167;0.0053)|Ovarian(174;0.0175) OV - Ovarian serous cystadenocarcinoma(47;6.14e-54) AAGAGGAAgatgatgatgatg 0.408000 4 208 0 0 1 0 0 EFCAB6 64800 broad.mit.edu 37 22 44083357 44083357 + Missense_Mutation SNP C C T TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr22:44083357C>T ENST00000262726.7 - 11 1389 c.1136G>A c.(1135-1137)aGa>aAa p.R379K EFCAB6_ENST00000358439.4_Intron|EFCAB6_ENST00000396231.2_Missense_Mutation_p.R227K NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 379 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) ATACCTATTTCTTTTTGTCAG 0.308000 25 212 0 0 1 0 0 HSD17B7 51478 broad.mit.edu 37 1 162769603 162769603 + Missense_Mutation SNP G G A TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr1:162769603G>A ENST00000367917.3 + 5 586 c.518G>A c.(517-519)aGt>aAt p.S173N HSD17B7_ENST00000485405.1_3'UTR|HSD17B7_ENST00000254521.3_Missense_Mutation_p.S173N P56937 DHB7_HUMAN hydroxysteroid (17-beta) dehydrogenase 7 173 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane|plasma membrane 3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity p.S173N(4) endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1) 9 all_hematologic(112;0.115) NADH(DB00157) TCATCTCGCAGTGCAAGGAAA 0.458000 9 272 0 0 1 0 0 ZSWIM8 23053 broad.mit.edu 37 10 75559013 75559013 + Missense_Mutation SNP C C T TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr10:75559013C>T ENST00000604729.1 + 21 4727 c.4430C>T c.(4429-4431)gCg>gTg p.A1477V ZSWIM8_ENST00000398706.2_Missense_Mutation_p.A1477V|ZSWIM8_ENST00000604524.1_Intron|NDST2_ENST00000456638.1_Intron|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.A1439V|ZSWIM8_ENST00000605216.1_Missense_Mutation_p.A1472V zinc finger, SWIM-type containing 8 ACAGTGGCAGCGGCAGCAGTG 0.647000 13 69 0 0 1 0 0 MUS81 80198 broad.mit.edu 37 11 65630663 65630663 + Missense_Mutation SNP G G A TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr11:65630663G>A ENST00000308110.4 + 7 1082 c.733G>A c.(733-735)Gct>Act p.A245T MUS81_ENST00000533035.1_Missense_Mutation_p.A170T NM_025128.4 NP_079404.3 Q96NY9 MUS81_HUMAN MUS81 structure-specific endonuclease subunit 245 DNA recombination|DNA repair nucleolus 3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1) 13 READ - Rectum adenocarcinoma(159;0.166) GCCAGGAGCAGCTTCAGCAGA 0.637000 Homologous recombination 42 113 0 0 1 0 0 LTB4R2 56413 broad.mit.edu 37 14 24780173 24780173 + Silent SNP C C T TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr14:24780173C>T ENST00000528054.1 + 1 2013 c.396C>T c.(394-396)tgC>tgT p.C132C CIDEB_ENST00000336557.5_5'UTR|LTB4R2_ENST00000543919.1_Silent_p.C101C|CIDEB_ENST00000258807.5_5'UTR|CIDEB_ENST00000555817.1_5'UTR|LTB4R2_ENST00000533293.1_Silent_p.C101C Q9NPC1 LT4R2_HUMAN leukotriene B4 receptor 2 132 chemotaxis|negative regulation of adenylate cyclase activity integral to plasma membrane endometrium(1)|lung(1)|ovary(1) 3 GBM - Glioblastoma multiforme(265;0.018) ACTACGTGTGCGCGCTCAGCA 0.721000 35 254 0 0 1 0 0 GLMN 11146 broad.mit.edu 37 1 92755861 92755861 + Missense_Mutation SNP T T A TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr1:92755861T>A ENST00000370360.3 - 5 369 c.288A>T c.(286-288)ttA>ttT p.L96F GLMN_ENST00000534881.1_Missense_Mutation_p.L96F NM_053274.2 NP_444504.1 Q92990 GLMN_HUMAN glomulin, FKBP associated protein 96 muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis intracellular hepatocyte growth factor receptor binding endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1) 17 all_lung(203;0.00827)|Lung NSC(277;0.0295) all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989) TTGGATTGCATAACTATAAAA 0.308000 Multiple Glomus Tumors (of the Skin), Familial 50 256 0 0 1 0 0 SLX4 84464 broad.mit.edu 37 16 3652237 3652237 + Missense_Mutation SNP G G A rs141597706 byFrequency TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr16:3652237G>A ENST00000294008.3 - 4 1472 c.832C>T c.(832-834)Cgg>Tgg p.R278W NM_032444.2 NP_115820.2 Q8IY92 SLX4_HUMAN SLX4 structure-specific endonuclease subunit 278 Interaction with C20orf94, ERCC4 and MSH2. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding p.R278W(1) breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 GCTCCTACCCGTGCAAACTCC 0.562000 Direct reversal of damage 5 600 0 0 1 0 0 TPTE2P6 0 broad.mit.edu 37 13 25168432 25168432 + RNA SNP T T C rs149337771 by1000genomes TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr13:25168432T>C ENST00000453498.1 + 0 1104 TTGAAACAGCTGGTGTATTAA 0.373000 5 146 0 0 1 0 0 ADAM2 2515 broad.mit.edu 37 8 39646232 39646232 + Missense_Mutation SNP C C A TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr8:39646232C>A ENST00000265708.4 - 8 701 c.598G>T c.(598-600)Gtt>Ttt p.V200F ADAM2_ENST00000379853.2_Intron|ADAM2_ENST00000521880.1_Missense_Mutation_p.V200F|ADAM2_ENST00000347580.4_Missense_Mutation_p.V181F NM_001464.3 NP_001455.3 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 200 Peptidase M12B. cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) TGAGCGACAACAGTTGTATCA 0.274000 40 479 4.44401e-20 4.75971e-20 1 1 0 MUC4 4585 broad.mit.edu 37 3 195505842 195505842 + Silent SNP T T G TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr3:195505842T>G ENST00000463781.3 - 2 13068 c.12609A>C c.(12607-12609)acA>acC p.T4203T MUC4_ENST00000475231.1_Silent_p.T4203T|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 966 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) TGGCGTGACCTGTGGATGCTG 0.597000 3 17 0 0 1 0 0 ZFP42 132625 broad.mit.edu 37 4 188924640 188924640 + Missense_Mutation SNP G G A TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr4:188924640G>A ENST00000326866.4 + 4 1087 c.679G>A c.(679-681)Gtt>Att p.V227I ZFP42_ENST00000509524.1_Missense_Mutation_p.V227I NM_174900.3 NP_777560.2 Q96MM3 ZFP42_HUMAN ZFP42 zinc finger protein 227 female gonad development|male gonad development|meiosis cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1) 27 all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227) OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157) GAAAGCGTTCGTTGAGAGCTC 0.502000 55 282 0 0 1 0 0 COASY 80347 broad.mit.edu 37 17 40714771 40714771 + Missense_Mutation SNP G G A TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr17:40714771G>A ENST00000393818.2 + 1 587 c.131G>A c.(130-132)gGc>gAc p.G44D COASY_ENST00000420359.1_Missense_Mutation_p.G44D|COASY_ENST00000449624.1_Intron|COASY_ENST00000421097.2_Missense_Mutation_p.G44D|COASY_ENST00000590958.1_Missense_Mutation_p.G73D NM_025233.6 NP_079509.5 Q13057 COASY_HUMAN CoA synthase 44 coenzyme A biosynthetic process|pantothenate metabolic process mitochondrial outer membrane ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1) 21 all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344) BRCA - Breast invasive adenocarcinoma(366;0.13) CTGCAGCCGGGCATGAGCCTG 0.662000 6 501 0 0 1 0 0 HERC2P2 0 broad.mit.edu 37 15 23283320 23283320 + RNA SNP C C A rs149049629 by1000genomes TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr15:23283320C>A ENST00000560464.1 - 0 5097 CAGCGTGTGCCTTTTCCTTCC 0.453000 25 124 3.90053e-15 4.15491e-15 1 1 0 DHX8 1659 broad.mit.edu 37 17 41570293 41570293 + Missense_Mutation SNP C C T rs146727331 TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr17:41570293C>T ENST00000262415.3 + 6 820 c.748C>T c.(748-750)Cgg>Tgg p.R250W DHX8_ENST00000540306.1_Missense_Mutation_p.R250W NM_004941.1 NP_004932.1 Q14562 DHX8_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 8 250 catalytic step 2 spliceosome ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 42 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.08) GGATAGATGGCGGGATAAGCA 0.507000 117 336 0 0 1 0 0 ZNF362 149076 broad.mit.edu 37 1 33745956 33745956 + Missense_Mutation SNP G G A TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr1:33745956G>A ENST00000539719.1 + 5 751 c.581G>A c.(580-582)cGc>cAc p.R194H ZNF362_ENST00000373428.5_Missense_Mutation_p.R194H NM_152493.2 NP_689706.2 Q5T0B9 ZN362_HUMAN zinc finger protein 362 194 R -> L (in Ref. 1; AAL55863). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(1)|large_intestine(4)|lung(2) 10 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) GAACGCGGCCGCAAAAAGATC 0.647000 5 180 0 0 1 0 0 P2RY12 0 broad.mit.edu 37 3 151055628 151055628 + Missense_Mutation SNP G G A TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr3:151055628G>A ENST00000302632.3 - 3 1305 c.1006C>T c.(1006-1008)Cca>Tca p.P336S MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron NM_022788.4|NM_176876.2 NP_073625.1|NP_795345.1 Q9H244 P2Y12_HUMAN purinergic receptor P2Y, G-protein coupled, 12 336 platelet activation integral to membrane|plasma membrane guanyl-nucleotide exchange factor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1) 17 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) Clopidogrel(DB00758)|Epoprostenol(DB01240)|Ticlopidine(DB00208)|Treprostinil(DB00374) TCTTCATTTGGGTCACCACCA 0.368000 7 600 0 0 1 0 0 DIP2A 23181 broad.mit.edu 37 21 47976980 47976980 + Silent SNP C C T TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr21:47976980C>T ENST00000318711.7 + 30 3813 c.3630C>T c.(3628-3630)tgC>tgT p.C1210C DIP2A_ENST00000417564.2_Silent_p.C1209C|DIP2A_ENST00000400274.1_Silent_p.C1205C NM_001146116.1|NM_015151.3 NP_001139588.1|NP_055966.2 Q14689 DIP2A_HUMAN DIP2 disco-interacting protein 2 homolog A (Drosophila) 1209 multicellular organismal development nucleus catalytic activity|transcription factor binding cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) GGTGTCTGTGCAGGTGAGTGC 0.612000 9 74 0 0 1 0 0 PREX1 57580 broad.mit.edu 37 20 47262580 47262580 + Silent SNP G G A TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr20:47262580G>A ENST00000396220.1 - 26 3343 c.3321C>T c.(3319-3321)atC>atT p.I1107I PREX1_ENST00000371941.3_Silent_p.I1107I Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 1107 actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 110 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) TGGGCTCTGTGATGGTGGACA 0.597000 72 182 0 0 1 0 0 ZNF718 255403 broad.mit.edu 37 4 155929 155929 + RNA SNP G G A TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr4:155929G>A ENST00000510175.1 + 0 1364 Q3SXZ3 ZN718_HUMAN zinc finger protein 718 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18) GAAGAATGTGGGAGCCTTTAA 0.358000 9 61 0 0 1 0 0 ZNF443 10224 broad.mit.edu 37 19 12541141 12541141 + Silent SNP C C T TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr19:12541141C>T ENST00000301547.5 - 4 2042 c.1845G>A c.(1843-1845)ccG>ccA p.P615P CTD-3105H18.16_ENST00000595562.1_Intron NM_005815.4 NP_005806.2 Q9Y2A4 ZN443_HUMAN zinc finger protein 443 615 induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1) 28 TACATTCATACGGGTTCTCTC 0.403000 6 427 0 0 1 0 0 CHRNA7 1139 broad.mit.edu 37 15 32460285 32460285 + Missense_Mutation SNP G G A TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr15:32460285G>A ENST00000306901.3 + 10 1232 c.1135G>A c.(1135-1137)Gcc>Acc p.A379T CHRNA7_ENST00000454250.3_Missense_Mutation_p.A408T|CHRNA7_ENST00000455693.2_Missense_Mutation_p.A198T NM_000746.5 NP_000737.1 P36544 ACHA7_HUMAN cholinergic receptor, nicotinic, alpha 7 (neuronal) 379 activation of MAPK activity|calcium ion transport|cellular calcium ion homeostasis|memory|negative regulation of tumor necrosis factor production|positive regulation of angiogenesis|positive regulation of cell proliferation|response to hypoxia|response to nicotine cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|beta-amyloid binding|chloride channel regulator activity|nicotinic acetylcholine-activated cation-selective channel activity|protein homodimerization activity|toxin binding endometrium(3)|large_intestine(1)|lung(6)|ovary(2) 12 all_lung(180;6.35e-11) all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227) Nicotine(DB00184)|Varenicline(DB01273) GCCGCCGCCCGCCAGCAACGG 0.716000 55 195 0 0 1 0 0 CELA3A 10136 broad.mit.edu 37 1 22333991 22333991 + Missense_Mutation SNP A A G TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr1:22333991A>G ENST00000290122.3 + 6 644 c.625A>G c.(625-627)Atc>Gtc p.I209V NM_005747.4 NP_005738.4 chymotrypsin-like elastase family, member 3A endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 TGGAGGGTACATCCGCTCCGG 0.617000 6 247 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522815 95522815 + RNA SNP A A G TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr2:95522815A>G ENST00000432432.2 - 0 212 NR_040113.1 ATCTTCTGCAATTCGGAGTCC 0.652000 5 351 0 0 1 0 0 PLCL2 23228 broad.mit.edu 37 3 17052241 17052241 + Missense_Mutation SNP G G A TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr3:17052241G>A ENST00000418129.2 + 2 1490 c.1025G>A c.(1024-1026)cGg>cAg p.R342Q PLCL2_ENST00000432376.1_Missense_Mutation_p.R342Q|PLCL2_ENST00000460467.1_Intron|PLCL2_ENST00000396755.2_Missense_Mutation_p.R342Q NM_001144382.1 NP_001137854.1 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 468 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 43 ATGGGTTGCCGGAGTGTTGAA 0.423000 6 646 0 0 1 0 0 ACOT1 641371 broad.mit.edu 37 14 74004293 74004293 + Silent SNP C C T TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr14:74004293C>T ENST00000311148.4 + 1 476 c.168C>T c.(166-168)acC>acT p.T56T ACOT1_ENST00000557556.1_Silent_p.T56T|HEATR4_ENST00000553558.1_Intron|HEATR4_ENST00000334988.2_Intron|HEATR4_ENST00000560393.1_Intron NM_001037161.1 NP_001032238.1 acyl-CoA thioesterase 1 endometrium(1)|large_intestine(1)|lung(2) 4 OV - Ovarian serous cystadenocarcinoma(108;1.37e-45)|BRCA - Breast invasive adenocarcinoma(234;0.0033) GCGCCGACACCCTTGGCGAGC 0.746000 8 67 0 0 1 0 0 TOX4 9878 broad.mit.edu 37 14 21961173 21961173 + Silent SNP T T C TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr14:21961173T>C ENST00000405508.1 + 8 1674 c.1398T>C c.(1396-1398)ccT>ccC p.P466P TOX4_ENST00000448790.2_Silent_p.P443P|TOX4_ENST00000262709.3_Silent_p.P466P O94842 TOX4_HUMAN TOX high mobility group box family member 4 466 Gln/Pro-rich. chromatin|nucleus|PTW/PP1 phosphatase complex DNA binding|protein binding large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(95;0.000465) Epithelial(56;6.61e-06)|all cancers(55;5.15e-05) GBM - Glioblastoma multiforme(265;0.0149) TGCAGCAGCCTCCTCCACTCC 0.552000 53 557 0 0 1 0 0 GPR149 344758 broad.mit.edu 37 3 154055947 154055947 + Silent SNP C C T TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr3:154055947C>T ENST00000389740.2 - 4 1836 c.1737G>A c.(1735-1737)ggG>ggA p.G579G NM_001038705.1 NP_001033794.1 Q86SP6 GP149_HUMAN G protein-coupled receptor 149 579 integral to membrane|plasma membrane G-protein coupled receptor activity autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2) 47 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) TTATTTTTTGCCCTTCTGCGC 0.458000 6 797 0 0 1 0 0 FOXP2 93986 broad.mit.edu 37 7 114269973 114269973 + Silent SNP A A G rs149757187 TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr7:114269973A>G ENST00000393500.3 + 11 1105 c.285A>G c.(283-285)caA>caG p.Q95Q FOXP2_ENST00000393494.2_Silent_p.Q170Q|FOXP2_ENST00000378237.3_Silent_p.Q170Q|FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000393491.3_Silent_p.Q78Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000393489.3_Silent_p.Q78Q|FOXP2_ENST00000393498.2_Silent_p.Q150Q|FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q|FOXP2_ENST00000350908.4_Silent_p.Q170Q O15409 FOXP2_HUMAN forkhead box P2 170 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding p.Q195Q(1) breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 agcagcagcaacaacaacaac 0.502000 6 281 0 0 1 0 0 MARCH5 54708 broad.mit.edu 37 10 94110927 94110927 + Missense_Mutation SNP G G A TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr10:94110927G>A ENST00000358935.2 + 6 1132 c.800G>A c.(799-801)cGc>cAc p.R267H NM_017824.4 NP_060294.1 Q9NX47 MARH5_HUMAN membrane-associated ring finger (C3HC4) 5 267 cell aging|protein autoubiquitination|protein localization in mitochondrion|protein polyubiquitination|regulation of mitochondrial fission endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane GTPase binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1) 9 CAGGCACACCGCAAAATTCTG 0.353000 6 723 0 0 1 0 0 ABCB5 340273 broad.mit.edu 37 7 20793112 20793112 + Missense_Mutation SNP G G A TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr7:20793112G>A ENST00000404938.2 + 27 4211 c.3559G>A c.(3559-3561)Gat>Aat p.D1187N ABCB5_ENST00000258738.6_Missense_Mutation_p.D742N NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 742 regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 TTCAGCCCTCGATAATGACAG 0.393000 64 393 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18846121 18846121 + RNA SNP C C T rs4302302 TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr22:18846121C>T ENST00000412938.1 + 0 3479 CACGCACTGGCGCACGATGTA 0.617000 5 148 0 0 1 0 0 TANC2 26115 broad.mit.edu 37 17 61483573 61483573 + Missense_Mutation SNP G G A TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr17:61483573G>A ENST00000424789.2 + 19 3306 c.3302G>A c.(3301-3303)cGc>cAc p.R1101H RP11-269G24.3_ENST00000583552.1_RNA|AC015923.1_ENST00000431604.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.R1101H NM_025185.3 NP_079461.2 Q9HCD6 TANC2_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 1101 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3) 44 AAGCAGGGCCGCACTCCCCTG 0.512000 OREG0024637 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 474 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C G rs121913530 TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr12:25398285C>G ENST00000311936.3 - 2 225 c.34G>C c.(34-36)Ggt>Cgt p.G12R KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348000 G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 70 233 0 0 1 0 0 CCT6P1 0 broad.mit.edu 37 7 65226641 65226641 + RNA SNP G G T TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr7:65226641G>T ENST00000442266.1 + 0 1167 AGGTTCTTGCGCAGAATTCTG 0.383000 4 159 0.00909568 0.00914232 1 1 0 SLC18A3 6572 broad.mit.edu 37 10 50819803 50819803 + Silent SNP G G T TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr10:50819803G>T ENST00000374115.3 + 1 1457 c.1017G>T c.(1015-1017)gtG>gtT p.V339V CHAT_ENST00000339797.1_Intron NM_003055.2 NP_003046.2 Q16572 VACHT_HUMAN solute carrier family 18 (vesicular acetylcholine transporter), member 3 339 neurotransmitter secretion clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction acetylcholine transmembrane transporter activity endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 43 TGCCTCATGTGCTGGGCGTCT 0.667000 71 533 1.68946e-44 1.83964e-44 1 1 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522786 95522786 + RNA SNP T T C TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr2:95522786T>C ENST00000432432.2 - 0 241 NR_040113.1 p.K44K(1) CGGCGTCGCCTTTGACAGCTG 0.687000 6 306 0 0 1 0 0 RGPD3 653489 broad.mit.edu 37 2 107049632 107049632 + Missense_Mutation SNP G G A TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr2:107049632G>A ENST00000409886.3 - 16 2402 c.2315C>T c.(2314-2316)gCg>gTg p.A772V RGPD3_ENST00000304514.7_Missense_Mutation_p.A772V NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 772 intracellular transport binding breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 TTCTGAATCCGCATTTCGCAA 0.373000 12 1489 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162513 90162513 + RNA SNP T T C TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr16:90162513T>C ENST00000567960.1 + 0 1249 TUBB8P7_ENST00000564451.1_RNA p.N415N(2) GCAACATGAATGACCTGGTGT 0.537000 9 511 0 0 1 0 0 YLPM1 56252 broad.mit.edu 37 14 75276279 75276279 + Missense_Mutation SNP G G A TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr14:75276279G>A ENST00000325680.7 + 7 4842 c.4718G>A c.(4717-4719)cGa>cAa p.R1573Q YLPM1_ENST00000552421.1_Missense_Mutation_p.R867Q|YLPM1_ENST00000238571.3_Missense_Mutation_p.R1378Q NM_019589.2 NP_062535.2 P49750 YLPM1_HUMAN YLP motif containing 1 1378 Arg-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 62 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) GAACAGGAACGATGGGATGAA 0.478000 27 85 0 0 1 0 0 OCA2 4948 broad.mit.edu 37 15 28211955 28211955 + Missense_Mutation SNP G G A TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr15:28211955G>A ENST00000354638.3 - 15 1672 c.1517C>T c.(1516-1518)gCc>gTc p.A506V OCA2_ENST00000382996.2_Missense_Mutation_p.A506V|OCA2_ENST00000353809.5_Missense_Mutation_p.A482V NM_000275.2 NP_000266.2 Q04671 P_HUMAN oculocutaneous albinism II 506 eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) AGTGAATCCGGCAAAGTCCAG 0.507000 Oculocutaneous Albinism 4 141 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53856761 53856761 + Missense_Mutation SNP T T C TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr19:53856761T>C ENST00000458035.1 + 4 2950 c.2833T>C c.(2833-2835)Tgt>Cgt p.C945R ZNF845_ENST00000595091.1_Missense_Mutation_p.C945R NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 945 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.C945R(1) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 ACCTTACAAGTGTAATGAATG 0.348000 10 138 0 0 1 0 0 TPTE2P6 0 broad.mit.edu 37 13 25171599 25171599 + RNA SNP C C T TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr13:25171599C>T ENST00000453498.1 + 0 1495 CCAGAATTTGCCGTGGAGATA 0.353000 5 375 0 0 1 0 0 TBC1D1 23216 broad.mit.edu 37 4 38023260 38023260 + Missense_Mutation SNP G G T TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr4:38023260G>T ENST00000261439.4 + 6 1486 c.1131G>T c.(1129-1131)caG>caT p.Q377H TBC1D1_ENST00000508802.1_Missense_Mutation_p.Q377H NM_001253914.1|NM_001253915.1|NM_015173.3 NP_001240843.1|NP_001240844.1|NP_055988.2 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 377 PID. nucleus Rab GTPase activator activity NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 36 CCGCAGTGCAGCAGACAGCTA 0.517000 8 100 0.000274275 0.000277103 1 1 0 PDCD1LG2 80380 broad.mit.edu 37 9 5535034 5535034 + Silent SNP G G A TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr9:5535034G>A ENST00000397747.3 + 3 593 c.345G>A c.(343-345)ctG>ctA p.L115L PDCD1LG2_ENST00000397745.2_Silent_p.L115L NM_025239.3 NP_079515.2 Q9BQ51 PD1L2_HUMAN programmed cell death 1 ligand 2 115 Ig-like V-type. immune response|T cell costimulation endomembrane system|extracellular region|integral to membrane|plasma membrane receptor activity large_intestine(2)|lung(4)|prostate(2) 8 all_hematologic(13;0.158) Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000767)|Lung(218;0.112) ACAAGTACCTGACTCTGAAAG 0.483000 9 76 0 0 1 0 0 TUBA4B 0 broad.mit.edu 37 2 220136184 220136184 + RNA SNP C C T TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr2:220136184C>T ENST00000490341.1 + 0 654 NR_003063.1 GCCCAACCTACACCAACCTCA 0.537000 100 263 0 0 1 0 0 CGREF1 10669 broad.mit.edu 37 2 27324303 27324303 + Missense_Mutation SNP C C T rs113949888 TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr2:27324303C>T ENST00000402394.1 - 6 1064 c.796G>A c.(796-798)Gaa>Aaa p.E266K CGREF1_ENST00000312734.4_Missense_Mutation_p.E266K|CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000405600.1_Missense_Mutation_p.E266K|CGREF1_ENST00000260595.5_Missense_Mutation_p.E249K|CGREF1_ENST00000404694.3_Missense_Mutation_p.E388K|CGREF1_ENST00000402550.1_Intron NM_006569.5 NP_006560.3 Q99674 CGRE1_HUMAN cell growth regulator with EF-hand domain 1 258 cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress extracellular region calcium ion binding kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCATCTCCTTCAGCCTCTGCC 0.687000 6 682 0 0 1 0 0 CD86 942 broad.mit.edu 37 3 121822466 121822466 + Nonsense_Mutation SNP C C T TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr3:121822466C>T ENST00000330540.2 + 3 288 c.172C>T c.(172-174)Cag>Tag p.Q58* CD86_ENST00000483949.1_3'UTR|CD86_ENST00000393627.2_Nonsense_Mutation_p.Q52*|CD86_ENST00000264468.5_Intron|CD86_ENST00000469710.1_5'UTR|CD86_ENST00000493101.1_Intron NM_175862.4 NP_787058.4 P42081 CD86_HUMAN CD86 molecule 58 Ig-like V-type. interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation coreceptor activity|protein binding breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3) 23 GBM - Glioblastoma multiforme(114;0.156) Abatacept(DB01281) AGTATTTTGGCAGGACCAGGA 0.418000 7 570 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414346 20414346 + Silent SNP G G A TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr9:20414346G>A ENST00000380338.4 - 5 784 c.498C>T c.(496-498)agC>agT p.S166S MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 166 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S166S(4) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctactgctgctgctgc 0.527000 T MLL ALL 8 254 0 0 1 0 0 RUNX3 864 broad.mit.edu 37 1 25254076 25254076 + Missense_Mutation SNP C C T TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr1:25254076C>T ENST00000399916.1 - 3 908 c.470G>A c.(469-471)cGc>cAc p.R157H RUNX3_ENST00000338888.3_Missense_Mutation_p.R157H|RUNX3_ENST00000540420.1_Missense_Mutation_p.R50H|RUNX3_ENST00000496967.1_5'UTR|RUNX3_ENST00000308873.6_Missense_Mutation_p.R143H NM_001031680.2 NP_001026850.1 Q13761 RUNX3_HUMAN runt-related transcription factor 3 143 Runt. cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3) 18 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136) TCGCCCACTGCGGCCCACGAA 0.597000 5 426 0 0 1 0 0 PRSS55 203074 broad.mit.edu 37 8 10383123 10383123 + Silent SNP C C T TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr8:10383123C>T ENST00000328655.3 + 1 68 c.28C>T c.(28-30)Ctg>Ttg p.L10L PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Silent_p.L10L NM_198464.3 NP_940866.2 Q6UWB4 PRS55_HUMAN protease, serine, 55 10 proteolysis integral to membrane serine-type endopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1) 31 GTTGCTGCTCCTGTCCCTGGT 0.672000 99 161 0 0 1 0 0 TPTE2P6 0 broad.mit.edu 37 13 25168501 25168501 + RNA SNP G G A rs4770716 by1000genomes TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr13:25168501G>A ENST00000453498.1 + 0 1173 TTTTCTCTTCGGTGAGTAATC 0.388000 4 210 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34276462 34276462 + Missense_Mutation SNP C C T rs61771030 TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr1:34276462C>T ENST00000373381.4 - 10 1504 c.1328G>A c.(1327-1329)cGc>cAc p.R443H CSMD2_ENST00000338325.1_5'UTR NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 403 CUB 3. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) ATCACACATGCGGGCTGCAGA 0.527000 5 453 0 0 1 0 0 CDCA2 157313 broad.mit.edu 37 8 25317954 25317954 + Missense_Mutation SNP C C T TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr8:25317954C>T ENST00000330560.3 + 3 593 c.116C>T c.(115-117)gCc>gTc p.A39V CDCA2_ENST00000380665.3_Missense_Mutation_p.A24V NM_152562.2 NP_689775.2 Q69YH5 CDCA2_HUMAN cell division cycle associated 2 39 cell division|mitosis cytoplasm|nucleus p.A39V(1) breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3) 35 all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191) UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443) CAGAAGCATGCCGAATTACCT 0.428000 5 619 0 0 1 0 0 BCL11B 64919 broad.mit.edu 37 14 99641568 99641568 + Missense_Mutation SNP C C G TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr14:99641568C>G ENST00000345514.2 - 3 1658 c.1392G>C c.(1390-1392)gaG>gaC p.E464D BCL11B_ENST00000443726.2_Missense_Mutation_p.E341D|BCL11B_ENST00000357195.3_Missense_Mutation_p.E535D NM_022898.1 NP_075049.1 Q9C0K0 BC11B_HUMAN B-cell CLL/lymphoma 11B (zinc finger protein) 535 nucleus zinc ion binding p.E535_E536delEE(1) NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2) 34 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) cctcctcctcctcgtcctcct 0.697000 T TLX3 T-ALL 3 34 0 0 1 0 0 POLR3B 55703 broad.mit.edu 37 12 106820975 106820975 + Splice_Site SNP C C T TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr12:106820975C>T ENST00000228347.4 + 13 1324 c.1101_splice c.e13-1 p.L368_splice POLR3B_ENST00000549195.1_3'UTR|POLR3B_ENST00000539066.1_Splice_Site_p.L310_splice NM_018082.5 NP_060552.4 Q9NW08 RPC2_HUMAN polymerase (RNA) III (DNA directed) polypeptide B 368 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding p.L368F(4) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2) 57 TTTTTTTTAGCTTTTATCTCT 0.274000 10 60 0 0 1 0 0 CHMP4C 92421 broad.mit.edu 37 8 82670525 82670525 + Missense_Mutation SNP G G A TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr8:82670525G>A ENST00000297265.4 + 4 825 c.632G>A c.(631-633)cGa>cAa p.R211Q NM_152284.3 NP_689497.1 Q96CF2 CHM4C_HUMAN charged multivesicular body protein 4C 211 Intramolecular interaction with N- terminus (By similarity). cellular membrane organization|endosome transport|protein transport cytosol|late endosome membrane protein binding NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(2)|skin(1) 10 CGTCGATCCCGAGCAGGTCTG 0.458000 56 242 0 0 1 0 0 TTBK1 84630 broad.mit.edu 37 6 43222815 43222815 + Missense_Mutation SNP C C T TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr6:43222815C>T ENST00000259750.4 + 7 688 c.605C>T c.(604-606)aCg>aTg p.T202M TTBK1_ENST00000304139.5_Missense_Mutation_p.T151M NM_032538.1 NP_115927.1 Q5TCY1 TTBK1_HUMAN tau tubulin kinase 1 202 Protein kinase. cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) TTTCGAGGAACGGTTCGCTAT 0.617000 5 213 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162172 90162172 + RNA SNP T T C TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr16:90162172T>C ENST00000567960.1 + 0 908 TUBB8P7_ENST00000564451.1_RNA GATGGCTGCCTGTGACCCCCG 0.567000 7 347 0 0 1 0 0 BACH1 571 broad.mit.edu 37 21 30699086 30699086 + Missense_Mutation SNP C C T TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr21:30699086C>T ENST00000399921.1 + 3 1184 c.941C>T c.(940-942)tCc>tTc p.S314F BACH1_ENST00000286800.3_Missense_Mutation_p.S314F NM_206866.1 NP_996749.1 O14867 BACH1_HUMAN BTB and CNC homology 1, basic leucine zipper transcription factor 1 314 S -> P (in dbSNP:rs35474725). nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2) 27 CACAATTCTTCCATAGACCCT 0.388000 103 497 0 0 1 0 0 STIP1 10963 broad.mit.edu 37 11 63971050 63971050 + Silent SNP C C T TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr11:63971050C>T ENST00000358794.5 + 13 2209 c.1656C>T c.(1654-1656)cgC>cgT p.R552R STIP1_ENST00000305218.4_Silent_p.R505R|STIP1_ENST00000538945.1_Silent_p.R481R P31948 STIP1_HUMAN stress-induced-phosphoprotein 1 505 axon guidance|response to stress Golgi apparatus|nucleus endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1) 27 CAGCCATGCGCCTTATCCTGG 0.582000 54 133 0 0 1 0 0 SEC63 11231 broad.mit.edu 37 6 108214765 108214765 + Nonsense_Mutation SNP A A T TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr6:108214765A>T ENST00000369002.4 - 16 1774 c.1595T>A c.(1594-1596)tTa>tAa p.L532* NM_007214.4 NP_009145.1 Q9UGP8 SEC63_HUMAN SEC63 homolog (S. cerevisiae) 532 SEC63 1. protein folding|protein targeting to membrane endoplasmic reticulum membrane|integral to membrane heat shock protein binding|receptor activity|unfolded protein binding p.L532*(2) endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294) BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054) TTTTTTTTTTAAAGGTTTCTT 0.368000 8 609 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 70908762 70908762 + Missense_Mutation SNP C C T TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr16:70908762C>T ENST00000393567.2 - 63 10768 c.10618G>A c.(10618-10620)Gcg>Acg p.A3540T NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 3540 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) TAGATATACGCGGTGGTGGGC 0.507000 30 90 0 0 1 0 0 OR1M1 125963 broad.mit.edu 37 19 9204125 9204125 + Missense_Mutation SNP G G A TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr19:9204125G>A ENST00000429566.3 + 1 271 c.205G>A c.(205-207)Gtt>Att p.V69I NM_001004456.1 NP_001004456.1 Q8NGA1 OR1M1_HUMAN olfactory receptor, family 1, subfamily M, member 1 69 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V69I(2) breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 CCTGTCCCTGGTTGATTTCTG 0.557000 5 332 0 0 1 0 0 TPTE2P6 0 broad.mit.edu 37 13 25168489 25168489 + RNA SNP G G A rs142860004 by1000genomes TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr13:25168489G>A ENST00000453498.1 + 0 1161 TGAAAGTGCAGTTTTTCTCTT 0.363000 5 213 0 0 1 0 0 HLA-A 3105 broad.mit.edu 37 6 29910693 29910693 + Missense_Mutation SNP A A G rs41559716 by1000genomes TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr6:29910693A>G ENST00000396634.1 + 4 574 c.233A>G c.(232-234)cAg>cGg p.Q78R HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R P30443 1A01_HUMAN major histocompatibility complex, class I, A 78 Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity p.Q78R(2) central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 TGGATAGAGCAGGAGGGGCCG 0.657000 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) 11 105 0 0 1 0 0 SLC12A3 0 broad.mit.edu 37 16 56920974 56920974 + Missense_Mutation SNP A A G TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr16:56920974A>G ENST00000438926.2 + 17 2176 c.2147A>G c.(2146-2148)gAc>gGc p.D716G SLC12A3_ENST00000566786.1_Missense_Mutation_p.D715G|SLC12A3_ENST00000563236.1_Missense_Mutation_p.D716G|SLC12A3_ENST00000262502.5_Missense_Mutation_p.D715G NM_000339.2|NM_001126107.1|NM_001126108.1 NP_000330.2|NP_001119579.1|NP_001119580.1 P55017 S12A3_HUMAN solute carrier family 12 (sodium/chloride transporter), member 3 716 sodium ion transmembrane transport apical plasma membrane|integral to plasma membrane|membrane fraction sodium:chloride symporter activity breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325) ATTGCCGAGGACCTCCGCAGA 0.582000 24 256 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179407109 179407109 + Silent SNP C C T TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr2:179407109C>T ENST00000589042.1 - 349 97598 c.97374G>A c.(97372-97374)acG>acA p.T32458T TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Silent_p.T23393T|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Silent_p.T23585T|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.T30817T|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Silent_p.T29890T|TTN_ENST00000359218.5_Silent_p.T23518T NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 30817 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) TAAACTTAAACGTGGACCTAG 0.502000 51 134 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53856702 53856702 + Missense_Mutation SNP G G A rs150688663 by1000genomes TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr19:53856702G>A ENST00000458035.1 + 4 2891 c.2774G>A c.(2773-2775)cGt>cAt p.R925H ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 925 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R925H(3) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 AAAACCTTCCGTCACAATTCA 0.363000 11 156 0 0 1 0 0 TGFBR1 7046 broad.mit.edu 37 9 101907091 101907091 + Missense_Mutation SNP G G C TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr9:101907091G>C ENST00000374994.4 + 6 1168 c.1051G>C c.(1051-1053)Gac>Cac p.D351H TGFBR1_ENST00000550253.1_Missense_Mutation_p.D282H|TGFBR1_ENST00000374990.2_Missense_Mutation_p.D274H|TGFBR1_ENST00000552516.1_Missense_Mutation_p.D355H NM_004612.2 NP_004603.1 P36897 TGFR1_HUMAN transforming growth factor, beta receptor 1 351 Protein kinase. activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1) 27 Acute lymphoblastic leukemia(62;0.0559) CTGTATTGCAGACTTAGGACT 0.358000 7 319 0 0 1 0 0 L2HGDH 79944 broad.mit.edu 37 14 50704423 50704423 + Missense_Mutation SNP G G A TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr14:50704423G>A ENST00000261699.4 - 10 1234 c.1217C>T c.(1216-1218)cCg>cTg p.P406L Q9H9P8 L2HDH_HUMAN L-2-hydroxyglutarate dehydrogenase 401 2-oxoglutarate metabolic process|cellular protein metabolic process integral to mitochondrial inner membrane 2-hydroxyglutarate dehydrogenase activity kidney(1)|large_intestine(4)|lung(3)|ovary(2) 10 all_epithelial(31;0.000599)|Breast(41;0.0102) TAGCCAGCTCGGTCCTCTCAC 0.517000 13 104 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7727588 7727588 + Silent SNP C C T TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr17:7727588C>T ENST00000572933.1 + 76 13088 c.11628C>T c.(11626-11628)atC>atT p.I3876I DNAH2_ENST00000389173.2_Silent_p.I3876I Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 3876 AAA 6 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) AGGCCCCCATCGCTGCTCGGC 0.652000 23 113 0 0 1 0 0 MYOM1 8736 broad.mit.edu 37 18 3188890 3188890 + Silent SNP C C T TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr18:3188890C>T ENST00000356443.4 - 4 960 c.627G>A c.(625-627)acG>acA p.T209T MYOM1_ENST00000261606.7_Silent_p.T209T|MYOM1_ENST00000400569.3_Silent_p.T209T NM_003803.3|NM_019856.1 NP_003794.3|NP_062830.1 P52179 MYOM1_HUMAN myomesin 1 209 6 X 6 AA tandem repeats. striated muscle myosin thick filament structural constituent of muscle p.T209T(1) NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 GCCTGGATGCCGTGGACTGCT 0.522000 6 593 0 0 1 0 0 MST1L 0 broad.mit.edu 37 1 17085006 17085006 + RNA SNP C C T rs147678325 by1000genomes TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr1:17085006C>T ENST00000455405.2 - 0 182 CGGATGGCCCCCAGCCACGCG 0.607000 40 496 0 0 1 0 0 HK2 3099 broad.mit.edu 37 2 75118049 75118049 + Missense_Mutation SNP G G A TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr2:75118049G>A ENST00000290573.2 + 18 3335 c.2735G>A c.(2734-2736)cGt>cAt p.R912H HK2_ENST00000409174.1_Missense_Mutation_p.R884H NM_000189.4 NP_000180.2 P52789 HXK2_HUMAN hexokinase 2 912 Catalytic. apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane ATP binding|glucokinase activity p.R912L(1) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 43 TGCCGCATCCGTGAGGCTGGA 0.542000 5 441 0 0 1 0 0 GRM6 2916 broad.mit.edu 37 5 178413350 178413350 + Silent SNP G G A TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr5:178413350G>A ENST00000231188.5 - 8 2083 c.1905C>T c.(1903-1905)taC>taT p.Y635Y GRM6_ENST00000517717.1_Silent_p.Y635Y|RP11-281O15.4_ENST00000519491.1_RNA NM_000843.3 NP_000834.2 O15303 GRM6_HUMAN glutamate receptor, metabotropic 6 635 detection of visible light|visual perception integral to plasma membrane NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 55 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) AGGTGATGGCGTAGATGAGGA 0.672000 54 124 0 0 1 0 0 MROH2B 133558 broad.mit.edu 37 5 41065559 41065559 + Missense_Mutation SNP C C A TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr5:41065559C>A ENST00000399564.4 - 4 685 c.235G>T c.(235-237)Gtt>Ttt p.V79F NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B GACACCAAAACCTCACCAGCT 0.418000 23 237 2.12542e-12 2.22771e-12 1 1 0 KRTAP1-1 81851 broad.mit.edu 37 17 39197549 39197549 + Missense_Mutation SNP G G C TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr17:39197549G>C ENST00000306271.4 - 1 164 c.101C>G c.(100-102)tCc>tGc p.S34C NM_030967.2 NP_112229.1 Q07627 KRA11_HUMAN keratin associated protein 1-1 34 Missing (in allele KAP1.7).|PSCSTSGTCGSSCCQPSCCETSSCQPRCCETSCCQPSCCQT SFCGFP -> R (in allele KAP1.6). extracellular region|keratin filament p.S34C(6) NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1) 14 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) TGGCTGGCAGGAGCTGGTCTC 0.612000 5 522 0 0 1 0 0 CRNN 49860 broad.mit.edu 37 1 152382699 152382699 + Missense_Mutation SNP C C T TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr1:152382699C>T ENST00000271835.3 - 3 921 c.859G>A c.(859-861)Gct>Act p.A287T RP1-91G5.3_ENST00000411804.1_RNA NM_016190.2 NP_057274.1 Q9UBG3 CRNN_HUMAN cornulin 287 Gln-rich. cell-cell adhesion|response to heat cytoplasm|membrane calcium ion binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) TGTATCTGAGCATGTCCTCCT 0.612000 7 1444 0 0 1 0 0 MIR329-1 0 broad.mit.edu 37 14 101493161 101493161 + RNA SNP A A T TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr14:101493161A>T ENST00000385028.1 + 0 40 NR_029967.1 TGTTTCTTTAATGAGGACGAA 0.468000 10 952 0 0 1 0 0 MUSK 4593 broad.mit.edu 37 9 113547892 113547892 + Missense_Mutation SNP C C T TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr9:113547892C>T ENST00000416899.2 + 11 1774 c.1648C>T c.(1648-1650)Ccg>Tcg p.P550S MUSK_ENST00000189978.5_Missense_Mutation_p.P558S|MUSK_ENST00000374448.4_Missense_Mutation_p.P558S|MUSK_ENST00000374438.1_Missense_Mutation_p.P74S O15146 MUSK_HUMAN muscle, skeletal, receptor tyrosine kinase 558 transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 49 CCAGAGGATGCCGCTCCTTCT 0.498000 6 720 0 0 1 0 0 SH3PXD2A 9644 broad.mit.edu 37 10 105362640 105362640 + Missense_Mutation SNP G G A TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr10:105362640G>A ENST00000369774.4 - 15 2611 c.2335C>T c.(2335-2337)Cgg>Tgg p.R779W SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.R614W|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.R646W|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.R751W|SH3PXD2A_ENST00000315994.6_5'UTR Q5TCZ1 SPD2A_HUMAN SH3 and PX domains 2A 779 cell communication|superoxide metabolic process cell junction|cell projection|cytoplasm|podosome phosphatidylinositol binding|protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1) 38 Colorectal(252;0.0815)|Breast(234;0.131) Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119) AGCTGGCGCCGTAAAGTGCTG 0.647000 9 1445 0 0 1 0 0 ITGA2 3673 broad.mit.edu 37 5 52356793 52356793 + Missense_Mutation SNP G G A TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr5:52356793G>A ENST00000296585.5 + 12 1518 c.1375G>A c.(1375-1377)Gca>Aca p.A459T NM_002203.3 NP_002194.2 P17301 ITA2_HUMAN integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) 459 axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis integrin complex collagen binding|identical protein binding|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 47 Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181) TGCTCCTCGGGCAAATTATAC 0.443000 5 406 0 0 1 0 0 WHSC1L1 54904 broad.mit.edu 37 8 38205614 38205614 + Missense_Mutation SNP C C T TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr8:38205614C>T ENST00000317025.8 - 2 593 c.76G>A c.(76-78)Gcc>Acc p.A26T WHSC1L1_ENST00000527502.1_Missense_Mutation_p.A26T|WHSC1L1_ENST00000316985.3_Missense_Mutation_p.A26T|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.A26T NM_023034.1 NP_075447.1 Q9BZ95 NSD3_HUMAN Wolf-Hirschhorn syndrome candidate 1-like 1 26 cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome histone-lysine N-methyltransferase activity|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 Colorectal(12;0.000442)|Esophageal squamous(3;0.0725) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065) Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511) CGGATGTTGGCGGAGTCAATG 0.453000 T NUP98 AML 5 424 0 0 1 0 0 HECW2 57520 broad.mit.edu 37 2 197187274 197187274 + Missense_Mutation SNP C C T TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr2:197187274C>T ENST00000260983.2 - 7 994 c.812G>A c.(811-813)cGt>cAt p.R271H HECW2_ENST00000409111.1_5'UTR NM_020760.1 NP_065811.1 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 271 C2. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 GATGATGGGACGGCTCTTGGC 0.423000 97 710 0 0 1 0 0 ZNF799 90576 broad.mit.edu 37 19 12501446 12501446 + Missense_Mutation SNP T T C TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr19:12501446T>C ENST00000419318.1 - 4 2419 c.1670A>G c.(1669-1671)gAa>gGa p.E557G CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Missense_Mutation_p.E589G Q96GE5 ZN799_HUMAN zinc finger protein 799 589 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2) 19 TTCCTTACATTCATACGGGTT 0.413000 8 418 0 0 1 0 0 PCSK7 9159 broad.mit.edu 37 11 117090363 117090363 + Missense_Mutation SNP G G A TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr11:117090363G>A ENST00000320934.3 - 10 1897 c.1267C>T c.(1267-1269)Cgg>Tgg p.R423W PCSK7_ENST00000540028.1_Missense_Mutation_p.R64W NM_004716.2 NP_004707.2 Q16549 PCSK7_HUMAN proprotein convertase subtilisin/kexin type 7 423 Catalytic. peptide hormone processing integral to Golgi membrane serine-type endopeptidase activity NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1) 16 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537) AGGCAGGGCCGCACCTGCAGC 0.627000 T IGH@ MLCLS 4 220 0 0 1 0 0 SIRPB1 10326 broad.mit.edu 37 20 1592193 1592193 + Silent SNP C C T TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr20:1592193C>T ENST00000279477.7 - 2 307 c.243G>A c.(241-243)caG>caA p.Q81Q SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000568365.1_Silent_p.Q81Q|SIRPB1_ENST00000381596.1_5'UTR|SIRPB1_ENST00000381605.4_Intron|RP4-576H24.4_ENST00000564763.1_Intron NM_001135844.2 NP_001129316.1 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 81 Ig-like V-type. cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 GGCCTTCTTTCTGATTGTAGA 0.522000 9 93 0 0 1 0 0 DET1 55070 broad.mit.edu 37 15 89070834 89070834 + Missense_Mutation SNP G G A TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr15:89070834G>A ENST00000564406.1 - 4 1460 c.1300C>T c.(1300-1302)Cgc>Tgc p.R434C DET1_ENST00000268148.8_Missense_Mutation_p.R423C|DET1_ENST00000444300.1_Missense_Mutation_p.R434C NM_017996.3 NP_060466.2 Q7L5Y6 DET1_HUMAN de-etiolated homolog 1 (Arabidopsis) 423 nucleus p.R434C(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Lung NSC(78;0.105)|all_lung(78;0.182) BRCA - Breast invasive adenocarcinoma(143;0.188) GCTTACCGGCGCTGGATCTGC 0.443000 4 229 0 0 1 0 0 AMOT 154796 broad.mit.edu 37 X 112058796 112058796 + Silent SNP C C T TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chrX:112058796C>T ENST00000371959.3 - 2 1181 c.1182G>A c.(1180-1182)caG>caA p.Q394Q AMOT_ENST00000304758.1_5'UTR|AMOT_ENST00000371962.1_Silent_p.Q162Q|AMOT_ENST00000524145.1_Silent_p.Q394Q|AMOT_ENST00000371958.1_Silent_p.Q162Q NM_001113490.1 NP_001106962.1 Q4VCS5 AMOT_HUMAN angiomotin 394 actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction angiostatin binding|protein binding|receptor activity p.Q394Q(1) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 43 gctgctgctgctgttgttggt 0.582000 4 120 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628245 29628245 + Missense_Mutation SNP G G A TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr20:29628245G>A ENST00000278882.3 + 6 627 c.247G>A c.(247-249)Gcc>Acc p.A83T FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T p.A83T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGCTTTGTTGGCCTCAAATAG 0.353000 12 547 0 0 1 0 0 KLK4 9622 broad.mit.edu 37 19 51411880 51411880 + Missense_Mutation SNP C C T TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr19:51411880C>T ENST00000324041.1 - 3 429 c.430G>A c.(430-432)Gcg>Acg p.A144T KLK4_ENST00000431178.2_Missense_Mutation_p.A95T NM_004917.3 NP_004908.3 Q9Y5K2 KLK4_HUMAN kallikrein-related peptidase 4 144 Peptidase S1. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8) 19 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878) GAGTTCCCCGCGGTAGGGCAC 0.602000 5 220 0 0 1 0 0 EPHB1 2047 broad.mit.edu 37 3 134884864 134884864 + Missense_Mutation SNP C C T TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr3:134884864C>T ENST00000398015.3 + 8 2010 c.1640C>T c.(1639-1641)gCg>gTg p.A547V EPHB1_ENST00000493838.1_Missense_Mutation_p.A108V NM_004441.4 NP_004432.1 P54762 EPHB1_HUMAN EPH receptor B1 547 integral to plasma membrane ATP binding|ephrin receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 130 GGCTCGGCAGCGGCCGGGGTC 0.567000 10 427 0 0 1 0 0 CPVL 54504 broad.mit.edu 37 7 29132283 29132283 + Silent SNP G G A TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr7:29132283G>A ENST00000409850.1 - 10 1144 c.498C>T c.(496-498)caC>caT p.H166H CPVL_ENST00000396276.3_Silent_p.H166H|CPVL_ENST00000265394.5_Silent_p.H166H Q9H3G5 CPVL_HUMAN carboxypeptidase, vitellogenic-like 166 proteolysis protein binding|serine-type carboxypeptidase activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1) 28 CTGCATATCCGTGGGTATCAT 0.443000 31 218 0 0 1 0 0 PSG6 5675 broad.mit.edu 37 19 43420517 43420517 + Missense_Mutation SNP T T C rs140507212 TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr19:43420517T>C ENST00000187910.2 - 2 252 c.187A>G c.(187-189)Act>Gct p.T63A PSG6_ENST00000601833.1_5'UTR|PSG6_ENST00000402603.4_Missense_Mutation_p.T63A|PSG6_ENST00000292125.2_Missense_Mutation_p.T63A NM_001031850.3 NP_001027020.1 pregnancy specific beta-1-glycoprotein 6 central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 44 Prostate(69;0.00899) ATGTAGCCAGTAAGATTCTGG 0.463000 7 1308 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57554894 57554894 + Missense_Mutation SNP G G A TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr12:57554894G>A ENST00000243077.3 + 13 2664 c.2198G>A c.(2197-2199)cGg>cAg p.R733Q NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 733 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) GGCACAGACCGGAAGGTGGGC 0.582000 6 348 0 0 1 0 0 HMG20B 10362 broad.mit.edu 37 19 3574395 3574395 + Silent SNP C C T TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr19:3574395C>T ENST00000333651.6 + 4 237 c.162C>T c.(160-162)cgC>cgT p.R54R NM_006339.2 NP_006330.2 Q9P0W2 HM20B_HUMAN high mobility group 20B 54 blood coagulation|cell cycle|chromatin modification chromosome|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity cervix(1) 1 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18) TGAAGAAACGCGGCTGGCCCA 0.672000 10 32 0 0 1 0 0 ZNF700 90592 broad.mit.edu 37 19 12060731 12060731 + Missense_Mutation SNP C C T TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr19:12060731C>T ENST00000482090.1 + 3 2256 c.1838C>T c.(1837-1839)tCt>tTt p.S613F ZNF763_ENST00000591944.1_Intron|ZNF700_ENST00000254321.5_Missense_Mutation_p.S631F|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000590798.1_Intron|ZNF763_ENST00000538752.1_Intron Q9H0M5 ZN700_HUMAN zinc finger protein 700 631 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ZNF700/MAST1_ENST00000251472(2) breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1) 33 GCCTTCAGATCTGCCTCAAAC 0.438000 73 343 0 0 1 0 0 ZMAT4 79698 broad.mit.edu 37 8 40532370 40532370 + Missense_Mutation SNP C C G TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr8:40532370C>G ENST00000297737.6 - 5 576 c.430G>C c.(430-432)Gac>Cac p.D144H ZMAT4_ENST00000315769.7_Intron NM_024645.2 NP_078921.1 Q9H898 ZMAT4_HUMAN zinc finger, matrin-type 4 144 nucleus DNA binding|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 18 Ovarian(28;0.00724)|Colorectal(14;0.0468) all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152) LUSC - Lung squamous cell carcinoma(45;0.00722) CAGTATCTGTCTGAATCTCTT 0.507000 228 2976 0 0 1 0 0 LRRC55 219527 broad.mit.edu 37 11 56950145 56950145 + Missense_Mutation SNP C C T rs143027441 byFrequency TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr11:56950145C>T ENST00000497933.1 + 1 925 c.778C>T c.(778-780)Cgc>Tgc p.R260C NM_001005210.2 NP_001005210.1 Q6ZSA7 LRC55_HUMAN leucine rich repeat containing 55 230 LRRCT. integral to membrane p.R260C(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2) 25 CCGGATCCAGCGCTGTACAGC 0.607000 53 382 0 0 1 0 0 SLAIN2 57606 broad.mit.edu 37 4 48379970 48379970 + Missense_Mutation SNP C C G TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr4:48379970C>G ENST00000264313.6 + 3 1014 c.596C>G c.(595-597)cCt>cGt p.P199R SLAIN2_ENST00000512093.1_Missense_Mutation_p.P6R|SLAIN2_ENST00000506375.1_3'UTR NM_020846.1 NP_065897.1 Q9P270 SLAI2_HUMAN SLAIN motif family, member 2 199 centrosome breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1) 13 TACACCAGTCCTTACAGTCCA 0.413000 132 348 0 0 1 0 0 CLSTN2 64084 broad.mit.edu 37 3 140178467 140178467 + Missense_Mutation SNP G G A TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr3:140178467G>A ENST00000458420.3 + 7 1268 c.1078G>A c.(1078-1080)Ggc>Agc p.G360S RP11-68L1.2_ENST00000503357.1_RNA NM_022131.2 NP_071414.2 Q9H4D0 CSTN2_HUMAN calsyntenin 2 360 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 CAAGTTTGACGGCAGGCAGGG 0.572000 HNSCC(16;0.037) 38 160 0 0 1 0 0 DDX55 57696 broad.mit.edu 37 12 124090516 124090516 + Silent SNP C C T TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr12:124090516C>T ENST00000238146.4 + 2 197 c.147C>T c.(145-147)gtC>gtT p.V49V DDX55_ENST00000538744.1_Silent_p.V49V NM_020936.1 NP_065987.1 Q8NHQ9 DDX55_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 55 49 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|RNA binding autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772) ACAAAGATGTCGCTGCAGAAG 0.498000 5 485 0 0 1 0 0 PDCD11 22984 broad.mit.edu 37 10 105182763 105182763 + Missense_Mutation SNP C C T rs142899352 TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr10:105182763C>T ENST00000369797.3 + 18 2610 c.2516C>T c.(2515-2517)aCg>aTg p.T839M NM_014976.1 NP_055791.1 Q14690 RRP5_HUMAN programmed cell death 11 839 mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding p.T839M(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) TTGATCCAGACGCTGGCCGAG 0.527000 40 269 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158585164 158585164 + Silent SNP C C T TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr1:158585164C>T ENST00000368148.3 - 48 6810 c.6630G>A c.(6628-6630)aaG>aaA p.K2210K SPTA1_ENST00000368147.3_Silent_p.K2207K NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 2210 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TTAGTTGACGCTTCATCGCCT 0.483000 6 699 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628243 29628243 + Missense_Mutation SNP T T C TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr20:29628243T>C ENST00000278882.3 + 6 625 c.245T>C c.(244-246)tTg>tCg p.L82S FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S p.L82S(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGGCTTTGTTGGCCTCAAAT 0.363000 12 556 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237729947 237729947 + Missense_Mutation SNP G G A TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr1:237729947G>A ENST00000366574.2 + 28 3612 c.3295G>A c.(3295-3297)Gga>Aga p.G1099R RYR2_ENST00000360064.6_Missense_Mutation_p.G1097R|RYR2_ENST00000542537.1_Missense_Mutation_p.G1083R NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1099 4 X approximate repeats.|B30.2/SPRY 2. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AGTGAAGGCCGGACGGTGGTA 0.552000 6 627 0 0 1 0 0 CTNNA3 29119 broad.mit.edu 37 10 68940134 68940134 + Missense_Mutation SNP C C T TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr10:68940134C>T ENST00000433211.1 - 7 1162 c.988G>A c.(988-990)Gca>Aca p.A330T CTNNA3_ENST00000545309.1_Missense_Mutation_p.A330T|CTNNA3_ENST00000494580.1_5'UTR|CTNNA3_ENST00000373744.4_Missense_Mutation_p.A330T NM_013266.2 NP_037398.2 Q9UI47 CTNA3_HUMAN catenin (cadherin-associated protein), alpha 3 330 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 95 TTGCATTCTGCGATAATCCGC 0.527000 11 328 0 0 1 0 0 HEATR1 55127 broad.mit.edu 37 1 236762848 236762848 + Nonsense_Mutation SNP G G A TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr1:236762848G>A ENST00000366582.3 - 4 550 c.436C>T c.(436-438)Cga>Tga p.R146* HEATR1_ENST00000366581.2_Nonsense_Mutation_p.R146*|HEATR1_ENST00000483073.1_5'UTR NM_018072.5 NP_060542.4 Q9H583 HEAT1_HUMAN HEAT repeat containing 1 146 rRNA processing nucleolus|ribonucleoprotein complex protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 87 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) TGTATGACTCGCACAAATATT 0.368000 6 463 0 0 1 0 0 POU2AF1 5450 broad.mit.edu 37 11 111225288 111225288 + Missense_Mutation SNP C C T TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr11:111225288C>T ENST00000393067.3 - 5 983 c.469G>A c.(469-471)Gcc>Acc p.A157T NM_006235.2 NP_006226.2 Q16633 OBF1_HUMAN POU class 2 associating factor 1 157 humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity breast(1)|kidney(2)|lung(2) 5 all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389) Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364) GCGGGCGTGGCGGAGCTTCTT 0.642000 T BCL6 NHL 6 24 0 0 1 0 0 ERCC2 2068 broad.mit.edu 37 19 45867502 45867502 + Missense_Mutation SNP G G A TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr19:45867502G>A ENST00000391945.4 - 9 883 c.806C>T c.(805-807)aCg>aTg p.T269M ERCC2_ENST00000485403.2_Missense_Mutation_p.T245M|ERCC2_ENST00000221481.6_3'UTR|ERCC2_ENST00000391944.3_Missense_Mutation_p.T191M|ERCC2_ENST00000391940.4_Missense_Mutation_p.T245M NM_000400.3 NP_000391.1 P18074 ERCC2_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 2 269 Helicase ATP-binding. cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction cytoplasm|holo TFIIH complex|MMXD complex 5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1) 9 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) CCTGAGCACCGTCTTCTGCAG 0.692000 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 45 271 0 0 1 0 0 CACNA1A 773 broad.mit.edu 37 19 13414635 13414635 + Nonsense_Mutation SNP G G A TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr19:13414635G>A ENST00000360228.5 - 16 2049 c.2050C>T c.(2050-2052)Cag>Tag p.Q684* CACNA1A_ENST00000573710.2_Nonsense_Mutation_p.Q685* NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 685 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) ATGCCGCCCTGCACGCCCCCC 0.562000 7 724 0 0 1 0 0 FAM86A 196483 broad.mit.edu 37 16 5135684 5135684 + Silent SNP C C T TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr16:5135684C>T ENST00000427587.4 - 8 1010 c.942G>A c.(940-942)ctG>ctA p.L314L FAM86A_ENST00000587133.1_Silent_p.L253L|ALG1_ENST00000592661.1_Intron|FAM86A_ENST00000458008.4_Silent_p.L280L NM_201400.2 NP_958802.1 Q96G04 FA86A_HUMAN family with sequence similarity 86, member A 314 endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2) 12 CGTAGGGAAACAGTTTCTGCT 0.527000 6 657 0 0 1 0 0 MYF5 4617 broad.mit.edu 37 12 81110965 81110965 + Silent SNP G G A TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr12:81110965G>A ENST00000228644.3 + 1 275 c.123G>A c.(121-123)gcG>gcA p.A41A NM_005593.2 NP_005584.2 P13349 MYF5_HUMAN myogenic factor 5 41 muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1) 30 CCTTCGGAGCGCACAAAGCAG 0.617000 4 165 0 0 1 0 0 IRF8 3394 broad.mit.edu 37 16 85946826 85946826 + Silent SNP G G A rs146360039 byFrequency TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr16:85946826G>A ENST00000268638.5 + 5 959 c.537G>A c.(535-537)gcG>gcA p.A179A NM_002163.2 NP_002154.1 Q02556 IRF8_HUMAN interferon regulatory factor 8 179 interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway nucleus DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 24 Prostate(104;0.0771) ACTGGTGGGCGCAGCAGCCCA 0.617000 6 399 0 0 1 0 0 GPR125 166647 broad.mit.edu 37 4 22390767 22390767 + Silent SNP G G A rs138178541 byFrequency TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr4:22390767G>A ENST00000334304.5 - 18 2936 c.2667C>T c.(2665-2667)tgC>tgT p.C889C GPR125_ENST00000282943.5_5'UTR NM_145290.2 NP_660333.2 Q8IWK6 GP125_HUMAN G protein-coupled receptor 125 889 neuropeptide signaling pathway integral to membrane G-protein coupled receptor activity p.C889C(1) breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 56 Breast(46;0.198) CAGTTATGCCGCAAACAATGA 0.423000 6 988 0 0 1 0 0 LHX3 8022 broad.mit.edu 37 9 139090879 139090879 + Missense_Mutation SNP G G A TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr9:139090879G>A ENST00000371746.3 - 4 614 c.496C>T c.(496-498)Cgc>Tgc p.R166C LHX3_ENST00000371748.5_Missense_Mutation_p.R161C NM_014564.3 NP_055379.1 Q9UBR4 LHX3_HUMAN LIM homeobox 3 161 inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 8 Myeloproliferative disorder(178;0.0511) Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07) ATGGTCGTGCGCGGCCGCTTG 0.761000 19 57 0 0 1 0 0 DGKI 9162 broad.mit.edu 37 7 137263014 137263014 + Splice_Site SNP A A C TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr7:137263014A>C ENST00000453654.1 - 16 1338 c.e16+1 DGKI_ENST00000424189.2_Splice_Site|DGKI_ENST00000288490.5_Splice_Site|DGKI_ENST00000446122.1_Splice_Site O75912 DGKI_HUMAN diacylglycerol kinase, iota activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 ATGTATACCTACCCCTGCATA 0.313000 23 212 0 0 1 0 0 CRNN 49860 broad.mit.edu 37 1 152382700 152382700 + Silent SNP A A G TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr1:152382700A>G ENST00000271835.3 - 3 920 c.858T>C c.(856-858)caT>caC p.H286H RP1-91G5.3_ENST00000411804.1_RNA NM_016190.2 NP_057274.1 Q9UBG3 CRNN_HUMAN cornulin 286 Gln-rich. cell-cell adhesion|response to heat cytoplasm|membrane calcium ion binding p.H286H(1) breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GTATCTGAGCATGTCCTCCTG 0.612000 7 1438 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37026745 37026745 + Missense_Mutation SNP G G A TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chrX:37026745G>A ENST00000358047.3 + 1 314 c.262G>A c.(262-264)Gct>Act p.A88T NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 88 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 AGGTCCCCAAGCTGACCCCAA 0.532000 145 131 0 0 1 0 0 LRRK1 79705 broad.mit.edu 37 15 101586241 101586241 + Missense_Mutation SNP C C T TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr15:101586241C>T ENST00000284395.5 + 22 3410 c.3010C>T c.(3010-3012)Cgg>Tgg p.R1004W RP11-505E24.3_ENST00000558979.1_RNA|LRRK1_ENST00000388948.3_Missense_Mutation_p.R1007W Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 1007 small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1) 72 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) CCACGGTATGCGGCACCCCAC 0.562000 5 461 0 0 1 0 0 ADORA3 140 broad.mit.edu 37 1 112042946 112042946 + Missense_Mutation SNP C C T rs143962803 byFrequency TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr1:112042946C>T ENST00000241356.4 - 2 988 c.583G>A c.(583-585)Gcc>Acc p.A195T ADORA3_ENST00000369717.4_Intron|ADORA3_ENST00000369716.4_Intron NM_000677.3 NP_000668.1 P33765 AA3R_HUMAN adenosine A3 receptor 195 activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction integral to plasma membrane adenosine receptor activity, G-protein coupled p.A195T(1) NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1) 12 all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156) all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134) Adenosine(DB00640)|Aminophylline(DB01223) AGATAGATGGCGCACATGACA 0.433000 138 319 0 0 1 0 0 LINC00264 0 broad.mit.edu 37 10 26880266 26880266 + RNA SNP G G A rs138111133 by1000genomes TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr10:26880266G>A ENST00000412114.1 + 0 501 NR_026793.1 ACCAAGCCCAGTGGACAGATG 0.443000 5 168 0 0 1 0 0 PSPH 5723 broad.mit.edu 37 7 56085002 56085002 + Missense_Mutation SNP C C T TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr7:56085002C>T ENST00000395471.3 - 6 1151 c.346G>A c.(346-348)Gta>Ata p.V116I PSPH_ENST00000275605.3_Missense_Mutation_p.V116I|PSPH_ENST00000459834.1_Intron P78330 SERB_HUMAN phosphoserine phosphatase 116 L-serine biosynthetic process cytoplasm calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity p.V116I(1) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1) 11 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) ACATGCTCTACAATACTCCTA 0.393000 5 327 0 0 1 0 0 FAM160B1 57700 broad.mit.edu 37 10 116608431 116608431 + Missense_Mutation SNP G G A TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr10:116608431G>A ENST00000369248.4 + 13 2073 c.1738G>A c.(1738-1740)Gca>Aca p.A580T FAM160B1_ENST00000369250.3_Missense_Mutation_p.A580T NM_020940.3 NP_065991.3 Q5W0V3 F16B1_HUMAN family with sequence similarity 160, member B1 580 NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13) 25 ACCGGATGACGCAAAATCCTC 0.403000 4 259 0 0 1 0 0 SOGA1 140710 broad.mit.edu 37 20 35444329 35444329 + Missense_Mutation SNP C C T TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr20:35444329C>T ENST00000237536.4 - 5 1857 c.1516G>A c.(1516-1518)Ggg>Agg p.G506R SOGA1_ENST00000357779.3_Missense_Mutation_p.G268R|SOGA1_ENST00000456801.2_Missense_Mutation_p.G109R|SOGA1_ENST00000279034.5_Missense_Mutation_p.G268R NM_080627.2 NP_542194.2 O94964 K0889_HUMAN suppressor of glucose, autophagy associated 1 268 endometrium(5)|kidney(1)|lung(21)|urinary_tract(1) 28 AAGCTCTCCCCGCACTCTCCG 0.662000 18 103 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274291 39274291 + Missense_Mutation SNP T T C rs149439944 by1000genomes TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr17:39274291T>C ENST00000391413.2 - 1 315 c.277A>G c.(277-279)Atg>Gtg p.M93V NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 93 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.M93V(4) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) TGGCAGCACATAGACTGGCAG 0.662000 12 221 0 0 1 0 0 CX3CR1 1524 broad.mit.edu 37 3 39307048 39307048 + Missense_Mutation SNP C C T TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr3:39307048C>T ENST00000541347.1 - 2 1192 c.953G>A c.(952-954)cGc>cAc p.R318H CX3CR1_ENST00000358309.3_Missense_Mutation_p.R350H|CX3CR1_ENST00000399220.2_Missense_Mutation_p.R318H|CX3CR1_ENST00000542107.1_Missense_Mutation_p.R318H NM_001171171.1 NP_001164642.1 P49238 CX3C1_HUMAN chemokine (C-X3-C motif) receptor 1 318 cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding integral to plasma membrane chemokine receptor activity endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1) 24 KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699) GTGGACTGAGCGCCCACACAG 0.478000 6 796 0 0 1 0 0 CADM1 23705 broad.mit.edu 37 11 115080343 115080343 + Silent SNP G G T TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr11:115080343G>T ENST00000537058.1 - 8 1049 c.1029C>A c.(1027-1029)acC>acA p.T343T CADM1_ENST00000536727.1_Intron|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000452722.2_Silent_p.T343T|CADM1_ENST00000331581.6_Silent_p.T343T|CADM1_ENST00000542447.2_Intron Q9BY67 CADM1_HUMAN cell adhesion molecule 1 343 PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657). adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity basolateral plasma membrane|cell-cell junction|integral to membrane PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding p.T343T(5) cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1) 32 all_hematologic(175;0.0628) all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237) BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303) tggtggtggtggttgttgtgg 0.433000 6 289 0.000157383 0.00015983 1 1 0 SCN2A 6326 broad.mit.edu 37 2 166201198 166201198 + Missense_Mutation SNP G G A TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr2:166201198G>A ENST00000357398.3 + 16 2986 c.2696G>A c.(2695-2697)gGc>gAc p.G899D SCN2A_ENST00000375427.2_Missense_Mutation_p.G899D|SCN2A_ENST00000283256.6_Missense_Mutation_p.G899D|SCN2A_ENST00000375437.2_Missense_Mutation_p.G899D Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 899 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) GCTGTGGTCGGCATGCAGCTC 0.443000 7 778 0 0 1 0 0 VGLL1 51442 broad.mit.edu 37 X 135630884 135630884 + Silent SNP G G A rs151216817 TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chrX:135630884G>A ENST00000370634.3 + 3 521 c.351G>A c.(349-351)ccG>ccA p.P117P NM_016267.3 NP_057351.1 Q99990 VGLL1_HUMAN vestigial like 1 (Drosophila) 117 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus transcription coactivator activity 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) AGTTCTCACCGTCCCTGGCTA 0.592000 7 652 0 0 1 0 0 AL928742.12 0 broad.mit.edu 37 14 106066370 106066370 + RNA SNP T T C rs1134593 TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr14:106066370T>C ENST00000412518.1 - 0 6 IGHE_ENST00000577108.1_RNA|IGHE_ENST00000576077.1_RNA CACAGCTGGATGGAGCCCTGG 0.602000 15 407 0 0 1 0 0 RP11-248G5.8 0 broad.mit.edu 37 13 52864028 52864028 + RNA SNP C C T rs138483057 by1000genomes TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr13:52864028C>T ENST00000451298.1 - 0 141 RP11-64P12.8_ENST00000606031.1_RNA TAGAATGATACTCCAAAGGAA 0.313000 6 160 0 0 1 0 0 ACR 49 broad.mit.edu 37 22 51182600 51182600 + Missense_Mutation SNP C C T TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr22:51182600C>T ENST00000216139.5 + 4 717 c.677C>T c.(676-678)gCg>gTg p.A226V ACR_ENST00000527761.1_3'UTR NM_001097.2 NP_001088.2 P10323 ACRO_HUMAN acrosin 226 Peptidase S1. A -> V (in Ref. 3). acrosome matrix dispersal|activation of adenylate cyclase activity acrosomal matrix|protein complex amidase activity|copper ion binding|DNA binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1) 7 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247) AATGTGTGCGCGGGGTATCCT 0.577000 8 384 0 0 1 0 0 TFDP1 7027 broad.mit.edu 37 13 114277494 114277494 + Splice_Site SNP G G T TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr13:114277494G>T ENST00000375370.5 + 4 291 c.e4-1 TFDP1_ENST00000544902.1_Splice_Site|TFDP1_ENST00000538138.1_Splice_Site|TFDP1_ENST00000465174.1_Splice_Site NM_007111.4 NP_009042.1 Q14186 TFDP1_HUMAN transcription factor Dp-1 cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter transcription factor complex DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 26 Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153) all cancers(43;0.0576) TTGTGTTGCAGGCGTGGTGTC 0.532000 TSP Lung(29;0.18) 4 76 2.56e-06 2.65481e-06 1 1 0 MYO16 23026 broad.mit.edu 37 13 109779791 109779791 + Missense_Mutation SNP G G A TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr13:109779791G>A ENST00000356711.2 + 31 4004 c.3878G>A c.(3877-3879)cGg>cAg p.R1293Q MYO16_ENST00000357550.2_Missense_Mutation_p.R1293Q|MYO16_ENST00000457511.2_Missense_Mutation_p.R805Q NM_015011.1 NP_055826.1 Q9Y6X6 MYO16_HUMAN myosin XVI 1293 cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) CCGTCTCCACGGAAACAGCCC 0.662000 21 135 0 0 1 0 0 HERC2 8924 broad.mit.edu 37 15 28517442 28517442 + Silent SNP G G A TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr15:28517442G>A ENST00000261609.7 - 9 1110 c.1002C>T c.(1000-1002)agC>agT p.S334S NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 334 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) AAAGTGGGGCGCTGGTGCCCT 0.567000 10 356 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144879387 144879387 + Nonsense_Mutation SNP G G A rs149886351 TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr1:144879387G>A ENST00000369359.4 - 30 4509 c.4471C>T c.(4471-4473)Cga>Tga p.R1491* PDE4DIP_ENST00000530740.1_Nonsense_Mutation_p.R1491*|PDE4DIP_ENST00000369356.4_Nonsense_Mutation_p.R1355*|PDE4DIP_ENST00000313382.9_Nonsense_Mutation_p.R1311*|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369354.3_Nonsense_Mutation_p.R1355* Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 1355 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding p.R1355*(2) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) ATGTCCTTTCGTAGGACCAAG 0.493000 T PDGFRB MPD 10 2144 0 0 1 0 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39262083 39262083 + Missense_Mutation SNP A A C rs75392608 TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr17:39262083A>C ENST00000391415.1 + 1 500 c.443A>C c.(442-444)aAc>aCc p.N148T NM_001146041.1 NP_001139513.1 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 148 29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP]. keratin filament central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3) 14 tgccagcccaactgctgccgc 0.667000 4 95 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53856730 53856730 + Silent SNP G G A TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr19:53856730G>A ENST00000458035.1 + 4 2919 c.2802G>A c.(2800-2802)aaG>aaA p.K934K ZNF845_ENST00000595091.1_Silent_p.K934K NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 934 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K934K(3) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 TAATTCATAAGACAATTCATA 0.368000 13 146 0 0 1 0 0 AQP7 364 broad.mit.edu 37 9 33385614 33385614 + Missense_Mutation SNP A A T rs140995428 by1000genomes TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr9:33385614A>T ENST00000541274.1 - 5 830 c.381T>A c.(379-381)agT>agA p.S127R AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000377425.4_Intron O14520 AQP7_HUMAN aquaporin 7 0 excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) CCACAGAAAAACTCAAAGGAA 0.632000 7 238 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 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 4 196 0 0 1 0 0 GRK7 131890 broad.mit.edu 37 3 141535562 141535562 + Missense_Mutation SNP G G T TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr3:141535562G>T ENST00000264952.2 + 4 1469 c.1332G>T c.(1330-1332)aaG>aaT p.K444N NM_139209.2 NP_631948.1 Q8WTQ7 GRK7_HUMAN G protein-coupled receptor kinase 7 444 Protein kinase. visual perception membrane ATP binding|G-protein coupled receptor kinase activity|signal transducer activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 26 ACAGAGAAAAGTCTGATGATC 0.413000 41 286 7.62715e-32 8.25923e-32 1 1 0 AADACL3 126767 broad.mit.edu 37 1 12785492 12785493 + Frame_Shift_Ins INS - - T TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr1:12785492_12785493insT ENST00000332530.3 + 3 598_599 c.372_373insT c.(370-375)tagtttfs p.*F124fs AADACL3_ENST00000359318.5_Frame_Shift_Ins_p.*F194fs NM_001103169.1 NP_001096639.1 Q5VUY0 ADCL3_HUMAN arylacetamide deacetylase-like 3 194 hydrolase activity breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1) 15 Ovarian(185;0.249) Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) TCATCTGCTACTGTTTTTTTCA 0.455 9 841 --- --- --- --- EXTL1 2134 broad.mit.edu 37 1 26349533 26349535 + In_Frame_Del DEL CCT CCT - TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr1:26349533_26349535delCCT ENST00000374280.3 + 1 1263_1265 c.396_398delCCT c.(394-399)tgc>tg p.CL132del NM_004455.2 NP_004446.2 Q92935 EXTL1_HUMAN exostosin-like glycosyltransferase 1 132 skeletal system development integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1) 23 Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649) CTGGGGCCTGCCTCCTCCTCCTC 0.606 8 293 --- --- --- --- PTPRF 5792 broad.mit.edu 37 1 44071946 44071948 + In_Frame_Del DEL GCG GCG - TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr1:44071946_44071948delGCG ENST00000359947.4 + 20 3859_3861 c.3519_3521delGCG c.(3517-3522)cag>ca p.QR1173del PTPRF_ENST00000422171.2_In_Frame_Del_p.QR521del|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000438120.1_In_Frame_Del_p.QR1164del|PTPRF_ENST00000372413.3_In_Frame_Del_p.QR1164del|PTPRF_ENST00000372414.3_In_Frame_Del_p.QR1173del NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 1173 transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GAGAGGAGCAGCGGCGGCGGCGG 0.631 8 548 --- --- --- --- IPP 3652 broad.mit.edu 37 1 46184897 46184898 + Frame_Shift_Del DEL AC AC - TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr1:46184897_46184898delAC ENST00000396478.3 - 6 1265_1266 c.1163_1164delGT c.(1162-1164)tfs p.C388fs NM_005897.2 NP_005888.1 Q9Y573 IPP_HUMAN intracisternal A particle-promoted polypeptide 388 actin cytoskeleton|cytoplasm actin binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2) 20 Acute lymphoblastic leukemia(166;0.155) TAGCCCCATAACACACACACAC 0.347 17 308 --- --- --- --- BEND5 79656 broad.mit.edu 37 1 49201966 49201967 + Frame_Shift_Ins INS - - T TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr1:49201966_49201967insT ENST00000371833.3 - 5 1138_1139 c.1052_1053insA c.(1051-1053)aaafs p.K351fs AGBL4_ENST00000371838.1_Intron|AGBL4_ENST00000371839.1_Intron|BEND5_ENST00000476096.1_Intron NM_024603.2 NP_078879.2 Q7L4P6 BEND5_HUMAN BEN domain containing 5 351 BEN. large_intestine(5)|lung(2)|skin(1) 8 CTGCATCTTTCTTTTTTTTTGT 0.460 18 692 --- --- --- --- ZNF644 84146 broad.mit.edu 37 1 91406039 91406040 + Frame_Shift_Ins INS - - T TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr1:91406039_91406040insT ENST00000370440.1 - 3 1088_1089 c.871_872insA c.(871-873)aaafs p.K291fs ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Frame_Shift_Ins_p.K291fs|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000467231.1_Intron Q9H582 ZN644_HUMAN zinc finger protein 644 291 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101) all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173) TTTTCGCTTTCTTTTTTTTTCT 0.337 15 612 --- --- --- --- NOTCH2 4853 broad.mit.edu 37 1 120612003 120612004 + Frame_Shift_Del DEL GG GG - TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 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 25 111 --- --- --- --- ADAMTSL4 54507 broad.mit.edu 37 1 150530506 150530506 + Frame_Shift_Del DEL G G - rs149280379 TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr1:150530506delG ENST00000271643.4 + 14 2499 c.2263delG c.(2263-2265)ggfs p.G758fs ADAMTSL4_ENST00000369041.5_Frame_Shift_Del_p.G758fs|ADAMTSL4_ENST00000369039.5_Frame_Shift_Del_p.G781fs|ADAMTSL4_ENST00000369038.2_Frame_Shift_Del_p.G758fs NM_019032.4 NP_061905.2 Q6UY14 ATL4_HUMAN ADAMTS-like 4 758 TSP type-1 2. apoptosis|positive regulation of apoptosis metalloendopeptidase activity|protease binding breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3) 32 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) GCAGGAATTTGGGGGGGGTGG 0.692 11 708 --- --- --- --- MCL1 4170 broad.mit.edu 37 1 150551492 150551494 + In_Frame_Del DEL TCC TCC - TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr1:150551492_150551494delTCC ENST00000369026.2 - 1 572_574 c.513_515delGGA c.(511-516)gac>ga p.ED171del MCL1_ENST00000307940.3_In_Frame_Del_p.ED171del NM_001197320.1|NM_021960.4 NP_001184249.1|NP_068779.1 Q07820 MCL1_HUMAN myeloid cell leukemia sequence 1 (BCL2-related) 171 PEST-like. anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus integral to membrane|mitochondrial outer membrane|nucleoplasm BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity endometrium(2)|large_intestine(1)|lung(4)|prostate(1) 8 all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) GTACAACTCGTCCTCCTCCTCCT 0.635 7 426 --- --- --- --- PVRL4 81607 broad.mit.edu 37 1 161044057 161044059 + In_Frame_Del DEL CAC CAC - TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 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 7 407 --- --- --- --- NOS1AP 9722 broad.mit.edu 37 1 162326888 162326890 + In_Frame_Del DEL CAG CAG - TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr1:162326888_162326890delCAG ENST00000361897.5 + 8 1303_1305 c.901_903delCAG c.(901-903)del p.Q306del NOS1AP_ENST00000530878.1_In_Frame_Del_p.Q301del NM_001164757.1|NM_014697.2 NP_001158229.1|NP_055512.1 O75052 CAPON_HUMAN nitric oxide synthase 1 (neuronal) adaptor protein 306 Poly-Gln. regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity nitric-oxide synthase binding|PDZ domain binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2) 32 all_hematologic(112;0.203) BRCA - Breast invasive adenocarcinoma(70;0.0537) gcagctcctccagcagcAGCAGC 0.611 10 280 --- --- --- --- PRELP 5549 broad.mit.edu 37 1 203452429 203452430 + Frame_Shift_Ins INS - - C TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr1:203452429_203452430insC ENST00000343110.2 + 2 244_245 c.117_118insC c.(115-120)agccagfs p.Q40fs NM_002725.3|NM_201348.1 NP_002716.1|NP_958505.1 P51888 PRELP_HUMAN proline/arginine-rich end leucine-rich repeat protein 40 skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 BRCA - Breast invasive adenocarcinoma(75;0.109) CCAGGCCCAGGCCCAGGCCCAC 0.653 16 452 --- --- --- --- TAF5L 27097 broad.mit.edu 37 1 229730385 229730385 + Frame_Shift_Del DEL A A - TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr1:229730385delA ENST00000258281.2 - 5 1594 c.1429delT c.(1429-1431)ctfs p.S477fs TAF5L_ENST00000366676.1_Frame_Shift_Del_p.S477fs NM_014409.3 NP_055224.1 O75529 TAF5L_HUMAN TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa 477 histone H3 acetylation|transcription from RNA polymerase II promoter STAGA complex|transcription factor TFTC complex sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1) 11 Breast(184;0.193)|Ovarian(103;0.249) Prostate(94;0.167) CCGTTGGGAGAAAAGGCGAGA 0.602 8 740 --- --- --- --- PUM2 23369 broad.mit.edu 37 2 20482977 20482979 + In_Frame_Del DEL GCT GCT - TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr2:20482977_20482979delGCT ENST00000361078.2 - 11 1471_1473 c.1449_1451delAGC c.(1447-1452)gct>gc p.AA483del PUM2_ENST00000536417.1_In_Frame_Del_p.AA427del|PUM2_ENST00000338086.5_In_Frame_Del_p.AA483del|PUM2_ENST00000403432.1_In_Frame_Del_p.AA483del|PUM2_ENST00000319801.5_In_Frame_Del_p.AA483del Q8TB72 PUM2_HUMAN pumilio RNA-binding family member 2 483 Ala-rich. regulation of translation perinuclear region of cytoplasm|stress granule protein binding|RNA binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3) 42 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGTTCCTCCAGCTGCTGCTGCTG 0.424 9 460 --- --- --- --- ASXL2 55252 broad.mit.edu 37 2 26022304 26022306 + In_Frame_Del DEL CTG CTG - TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr2:26022304_26022306delCTG ENST00000435504.4 - 5 644_646 c.351_353delCAG c.(349-354)agt>ag p.SS117del ASXL2_ENST00000336112.4_In_Frame_Del_p.SS89del|ASXL2_ENST00000272341.4_5'UTR|ASXL2_ENST00000497092.1_5'UTR Q76L83 ASXL2_HUMAN additional sex combs like 2 (Drosophila) 117 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCCACCATCACTGCTGCTGCTGC 0.463 16 901 --- --- --- --- DHX57 90957 broad.mit.edu 37 2 39095411 39095413 + In_Frame_Del DEL CCA CCA - TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 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 8 403 --- --- --- --- RTN4 57142 broad.mit.edu 37 2 55253745 55253746 + Frame_Shift_Ins INS - - T TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr2:55253745_55253746insT ENST00000337526.6 - 3 1732_1733 c.1489_1490insA c.(1489-1491)agafs p.R497fs RTN4_ENST00000405240.1_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000394611.2_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000357376.3_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000354474.6_Frame_Shift_Ins_p.R265fs|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000404909.1_Frame_Shift_Ins_p.R291fs NM_020532.4 NP_065393.1 Q9NQC3 RTN4_HUMAN reticulon 4 497 apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1) 36 CTTTTCTTCTATTTTTTTTTCA 0.381 16 465 --- --- --- --- CCDC88A 55704 broad.mit.edu 37 2 55549818 55549818 + Frame_Shift_Del DEL T T - TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr2:55549818delT ENST00000436346.1 - 18 3849 c.3008delA c.(3007-3009)atfs p.N1003fs AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000600219.1_RNA|CCDC88A_ENST00000336838.6_Frame_Shift_Del_p.N1002fs|CCDC88A_ENST00000413716.2_Frame_Shift_Del_p.N1002fs|CCDC88A_ENST00000263630.8_Frame_Shift_Del_p.N1003fs NM_001135597.1|NM_001254943.1 NP_001129069.1|NP_001241872.1 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A 1003 activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 69 AGCTTCATAATTTTTTTTCAC 0.353 7 473 --- --- --- --- SEMA4F 10505 broad.mit.edu 37 2 74889902 74889902 + Frame_Shift_Del DEL G G - TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr2:74889902delG ENST00000357877.2 + 5 649 c.500delG c.(499-501)cgfs p.R167fs SEMA4F_ENST00000339773.5_Intron NM_004263.3 NP_004254.2 O95754 SEM4F_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F 167 Sema. cell-cell signaling endoplasmic reticulum|integral to plasma membrane receptor activity biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2) 45 GAGAGTGGCCGGGGGAAATGT 0.517 7 1204 --- --- --- --- IL1R2 7850 broad.mit.edu 37 2 102638648 102638649 + Splice_Site INS - - A TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr2:102638648_102638649insA ENST00000332549.3 + 6 917_918 c.e6-1 IL1R2_ENST00000393414.2_Splice_Site|IL1R2_ENST00000441002.1_Splice_Site NM_004633.3 NP_004624.1 P27930 IL1R2_HUMAN interleukin 1 receptor, type II immune response integral to membrane|plasma membrane interleukin-1, Type II, blocking receptor activity breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1) 28 Anakinra(DB00026) ATCTTTCTCAGAAAAAAAAGAA 0.441 10 1413 --- --- --- --- SLC9A4 389015 broad.mit.edu 37 2 103149137 103149137 + Frame_Shift_Del DEL A A - TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr2:103149137delA ENST00000295269.4 + 12 2844 c.2387delA c.(2386-2388)cafs p.Q796fs NM_001011552.3 NP_001011552.2 Q6AI14 SL9A4_HUMAN solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4 796 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 CCTTTGCTCCAAAAAAAATAG 0.473 9 358 --- --- --- --- CCDC74A 90557 broad.mit.edu 37 2 132290248 132290249 + Frame_Shift_Ins INS - - C TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr2:132290248_132290249insC ENST00000295171.6 + 5 908_909 c.770_771insC c.(769-771)cccfs p.P257fs CCDC74A_ENST00000409856.3_Frame_Shift_Ins_p.P191fs|CCDC74A_ENST00000467992.2_3'UTR NM_001258304.1|NM_001258305.1|NM_138770.2 NP_001245233.1|NP_001245234.1|NP_620125.1 Q96AQ1 CC74A_HUMAN coiled-coil domain containing 74A 257 endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 GCGGGGGCACACCCCCCAATGA 0.599 7 850 --- --- --- --- SSB 6741 broad.mit.edu 37 2 170665008 170665008 + Frame_Shift_Del DEL A A - TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr2:170665008delA ENST00000409333.1 + 7 818 c.571delA c.(571-573)aafs p.K192fs SSB_ENST00000260956.4_Frame_Shift_Del_p.K192fs P05455 LA_HUMAN Sjogren syndrome antigen B (autoantigen La) 192 histone mRNA metabolic process|tRNA modification nucleus|ribonucleoprotein complex mRNA binding|nucleotide binding|protein binding|tRNA binding endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 TTACTTTGCCAAAAAAAATGA 0.323 9 496 --- --- --- --- RBM45 129831 broad.mit.edu 37 2 178977303 178977304 + Frame_Shift_Ins INS - - G rs146365140 by1000genomes TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr2:178977303_178977304insG ENST00000286070.5 + 1 122_123 c.30_31insG c.(28-33)ggggggfs p.GG10fs NM_152945.2 NP_694453.2 Q8IUH3 RBM45_HUMAN RNA binding motif protein 45 10 cell differentiation|nervous system development cytoplasm|nucleus nucleotide binding|RNA binding endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037) CTGCGAGCGGCGGGGGCTTCCG 0.644 OREG0015102 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 296 --- --- --- --- GTF3C3 9330 broad.mit.edu 37 2 197649613 197649614 + Frame_Shift_Ins INS - - T TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 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 7 382 --- --- --- --- IKZF2 22807 broad.mit.edu 37 2 214012402 214012405 + Frame_Shift_Del DEL ACAA ACAA - rs6738070 by1000genomes TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr2:214012402_214012405delACAA ENST00000442445.1 - 3 241_244 c.184_187delTTGT c.(184-189)gtfs p.LC62fs IKZF2_ENST00000421754.2_Intron|IKZF2_ENST00000434687.1_Intron|IKZF2_ENST00000374319.4_Intron|IKZF2_ENST00000342002.2_Intron|IKZF2_ENST00000451136.2_Intron|IKZF2_ENST00000457361.1_Intron|IKZF2_ENST00000413091.3_Intron|IKZF2_ENST00000374327.4_Intron Q9UKS7 IKZF2_HUMAN IKAROS family zinc finger 2 (Helios) 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Esophageal squamous(248;0.0559)|Renal(323;0.218) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792) ACACACACACACAAAAAAAAATCA 0.407 7 536 --- --- --- --- TNS1 7145 broad.mit.edu 37 2 218712887 218712889 + In_Frame_Del DEL GCT GCT - TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr2:218712887_218712889delGCT ENST00000171887.4 - 17 2428_2430 c.1976_1978delAGC c.(1975-1980)cct>c p.QP659del TNS1_ENST00000419504.1_In_Frame_Del_p.QP659del|TNS1_ENST00000430930.1_In_Frame_Del_p.QP659del NM_022648.4 NP_072174.3 Q9HBL0 TENS1_HUMAN tensin 1 659 Gln-rich. cytoplasm|cytoskeleton|focal adhesion actin binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) GGTGGGCGAGgctgctgctgctg 0.660 8 90 --- --- --- --- DOCK10 55619 broad.mit.edu 37 2 225729790 225729790 + Frame_Shift_Del DEL A A - TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr2:225729790delA ENST00000409592.3 - 12 1367 c.1254delT c.(1252-1254)ttfs p.F418fs DOCK10_ENST00000258390.7_Frame_Shift_Del_p.F424fs Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 424 GTP binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) CCACACTCACAAAAAAAGGCT 0.398 7 589 --- --- --- --- USP40 55230 broad.mit.edu 37 2 234394236 234394237 + Frame_Shift_Ins INS - - T TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr2:234394236_234394237insT ENST00000251722.6 - 30 3558_3559 c.3441_3442insA c.(3439-3444)aaaagafs p.R1148fs USP40_ENST00000427112.2_Frame_Shift_Ins_p.R1148fs|USP40_ENST00000450966.1_Frame_Shift_Ins_p.R1160fs|USP40_ENST00000496298.1_5'UTR Q9NVE5 UBP40_HUMAN ubiquitin specific peptidase 40 1148 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 30 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539) Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646) AAATAATCTTGTTTTTTTTTCT 0.337 8 331 --- --- --- --- GRM7 2917 broad.mit.edu 37 3 7621013 7621013 + Frame_Shift_Del DEL T T - TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr3:7621013delT ENST00000486284.1 + 8 2694 c.2420delT c.(2419-2421)atfs p.I807fs GRM7_ENST00000402647.2_Frame_Shift_Del_p.I807fs|GRM7_ENST00000403881.1_Frame_Shift_Del_p.I807fs|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000357716.4_Frame_Shift_Del_p.I807fs|GRM7_ENST00000389336.4_Frame_Shift_Del_p.I807fs NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 807 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) TTCATTCCAATTTTTTTTGGC 0.383 7 307 --- --- --- --- RP11-325B23.2 0 broad.mit.edu 37 3 98031434 98031434 + RNA DEL A A - TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr3:98031434delA ENST00000508616.1 + 0 149 OR5H8P_ENST00000394191.2_RNA TTACAATCTTAAAAAAAAAAG 0.333 7 122 --- --- --- --- KIAA2018 205717 broad.mit.edu 37 3 113380090 113380090 + Frame_Shift_Del DEL T T - TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 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 12 482 --- --- --- --- PARP14 54625 broad.mit.edu 37 3 122433232 122433232 + Frame_Shift_Del DEL A A - TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr3:122433232delA ENST00000474629.2 + 12 4222 c.3956delA c.(3955-3957)gafs p.E1319fs NM_017554.2 NP_060024.2 Q460N5 PAR14_HUMAN poly (ADP-ribose) polymerase family, member 14 1319 Macro 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(114;0.0531) CAGGAGTGTGAAAAAAAAAAT 0.423 11 241 --- --- --- --- HGFAC 3083 broad.mit.edu 37 4 3443798 3443800 + In_Frame_Del DEL CTG CTG - TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr4:3443798_3443800delCTG ENST00000382774.3 + 1 185_187 c.70_72delCTG c.(70-72)del p.L29del HGFAC_ENST00000511533.1_In_Frame_Del_p.L29del NM_001528.2 NP_001519.1 Q04756 HGFA_HUMAN HGF activator 29 proteolysis extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 22 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) CCTCCTCCTCCTGCTGCTGCTGC 0.714 8 194 --- --- --- --- LIMCH1 22998 broad.mit.edu 37 4 41648508 41648509 + Frame_Shift_Del DEL GA GA - TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr4:41648508_41648509delGA ENST00000313860.7 + 12 1317_1318 c.1263_1264delGA c.(1261-1266)cggafs p.RR421fs LIMCH1_ENST00000509277.1_Frame_Shift_Del_p.RR255fs|LIMCH1_ENST00000511496.1_Frame_Shift_Del_p.RR262fs|LIMCH1_ENST00000514096.1_Frame_Shift_Del_p.RR262fs|LIMCH1_ENST00000513024.1_Frame_Shift_Del_p.RR250fs|LIMCH1_ENST00000381753.4_Frame_Shift_Del_p.RR255fs|LIMCH1_ENST00000512632.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000512946.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000396595.3_Frame_Shift_Del_p.RR267fs|LIMCH1_ENST00000512820.1_Frame_Shift_Del_p.RR409fs|LIMCH1_ENST00000508501.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000503057.1_Frame_Shift_Del_p.RR806fs NM_014988.2 NP_055803.2 Q9UPQ0 LIMC1_HUMAN LIM and calponin homology domains 1 421 actomyosin structure organization actin binding|zinc ion binding p.E810fs*3(1)|p.E425fs*3(1) central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5) 41 TTAGAGAGCGGAGAGAGAGAGA 0.465 8 731 --- --- --- --- PRDM8 56978 broad.mit.edu 37 4 81123250 81123252 + In_Frame_Del DEL CAG CAG - TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr4:81123250_81123252delCAG ENST00000339711.4 + 10 1865_1867 c.634_636delCAG c.(634-636)del p.Q217del PRDM8_ENST00000504452.1_In_Frame_Del_p.Q217del|PRDM8_ENST00000415738.2_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) 9 244 --- --- --- --- NAP1L5 266812 broad.mit.edu 37 4 89618431 89618433 + In_Frame_Del DEL CCT CCT - TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 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 10 548 --- --- --- --- NAP1L5 266812 broad.mit.edu 37 4 89618484 89618486 + In_Frame_Del DEL TCC TCC - TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr4:89618484_89618486delTCC ENST00000323061.5 - 1 900_902 c.420_422delGGA c.(418-423)gaa>ga p.EE142del 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 5 142 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) gtactcctcttcctcctcctcct 0.606 11 371 --- --- --- --- POU4F2 5458 broad.mit.edu 37 4 147560457 147560458 + In_Frame_Ins INS - - GGC rs67907220 TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr4:147560457_147560458insGGC ENST00000281321.3 + 1 413_414 c.165_166insGGC c.(163-168)gggcgg>ggGGCgcgg p.55_56GR>GAR AC093887.1_ENST00000584185.1_RNA NM_004575.2 NP_004566.2 Q12837 PO4F2_HUMAN POU class 4 homeobox 2 55 Poly-Gly. estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter nuclear speck RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) ACGCTggtggtggcggcggcgg 0.762 17 44 --- --- --- --- PDZD2 23037 broad.mit.edu 37 5 32090059 32090061 + In_Frame_Del DEL TCC TCC - rs61744453 by1000genomes TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr5:32090059_32090061delTCC ENST00000438447.1 + 20 6893_6895 c.6505_6507delTCC c.(6505-6507)del p.S2173del PDZD2_ENST00000282493.3_In_Frame_Del_p.S2173del O15018 PDZD2_HUMAN PDZ domain containing 2 2173 Ser-rich. cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 AAAACTGGCGTCCTCCTCCTCCT 0.527 10 565 --- --- --- --- DND1 373863 broad.mit.edu 37 5 140052285 140052285 + Frame_Shift_Del DEL T T - TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr5:140052285delT ENST00000542735.1 - 3 392 c.349delA c.(349-351)cgfs p.T117fs NM_194249.2 NP_919225.1 Q8IYX4 DND1_HUMAN DND microRNA-mediated repression inhibitor 1 117 RRM 1. multicellular organismal development|negative regulation of gene silencing by miRNA cytoplasm|nucleus AU-rich element binding|nucleotide binding p.T117fs*24(1) central_nervous_system(1)|prostate(4) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTGTGCAGCGTGGCGATGGCG 0.682 10 54 --- --- --- --- BTN2A3P 0 broad.mit.edu 37 6 26422388 26422390 + RNA DEL CCT CCT - rs113134648 TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr6:26422388_26422390delCCT ENST00000466808.2 + 0 42_44 GGCCAGCCTCCCTCCTCCTCCTC 0.586 13 392 --- --- --- --- HIST1H1B 3009 broad.mit.edu 37 6 27834834 27834845 + In_Frame_Del DEL CTTCTTCGGAGT CTTCTTCGGAGT - rs143393068 byFrequency TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr6:27834834_27834845delCTTCTTCGGAGT ENST00000331442.3 - 1 514_525 c.463_474delACTCCGAAGAAG c.(463-474)del p.TPKK155del NM_005322.2 NP_005313.1 P16401 H15_HUMAN histone cluster 1, H1b 155 nucleosome assembly nucleosome|nucleus DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2) 24 GCTTCTTCGCCTTCTTCGGAGTCTTCTTCACT 0.599 76 919 --- --- --- --- HLA-V 0 broad.mit.edu 37 6 29760353 29760373 + RNA DEL GCGGGCGCCGTGGATGGAGCA GCGGGCGCCGTGGATGGAGCA - rs74661005 by1000genomes TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA ENST00000457107.1 + 0 223_243 GGATGGAGCCGCGGGCGCCGTGGATGGAGCAGGAGGGGCCG 0.674 8 39 --- --- --- --- PPP1R18 170954 broad.mit.edu 37 6 30653494 30653496 + In_Frame_Del DEL TGC TGC - TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr6:30653494_30653496delTGC ENST00000274853.3 - 1 2176_2178 c.300_302delGCA c.(298-303)caa>ca p.QQ102del PPP1R18_ENST00000399199.3_In_Frame_Del_p.QQ102del|PPP1R18_ENST00000488324.1_Intron NM_133471.3 NP_597728.1 Q6NYC8 PHTNS_HUMAN protein phosphatase 1, regulatory subunit 18 102 Poly-Gln. cytoplasm|cytoskeleton actin binding p.Q100Q(1) CCGTtgttgttgctgctgctgct 0.650 7 258 --- --- --- --- HLA-DRB6 0 broad.mit.edu 37 6 32521545 32521546 + RNA INS - - AAGG rs144810212 by1000genomes TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr6:32521545_32521546insAAGG ENST00000411500.1 - 0 851 NR_001298.1 TTGGGGAAAGACTTTATCCAGG 0.436 4 8 --- --- --- --- C6orf223 221416 broad.mit.edu 37 6 43970503 43970504 + In_Frame_Ins INS - - GCGGCG rs72369323 TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr6:43970503_43970504insGCGGCG ENST00000336600.5 + 4 389_390 c.369_370insGCGGCG c.(367-372)cgcggc>cgGCGGCGcggc p.122_123insRR RP5-1120P11.1_ENST00000422059.1_RNA|C6orf223_ENST00000439969.2_3'UTR|RP5-1120P11.1_ENST00000607590.1_RNA|C6orf223_ENST00000448947.2_3'UTR NM_001171992.1|NM_153246.4 NP_001165463.1|NP_694978.2 Q8N319 CF223_HUMAN chromosome 6 open reading frame 223 122 central_nervous_system(1)|lung(2)|pancreas(1)|prostate(1)|urinary_tract(1) 6 all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437) all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217) CGGTAGAGCGCgcggcggcggc 0.777 7 70 --- --- --- --- SOGA3 387104 broad.mit.edu 37 6 127804080 127804080 + Frame_Shift_Del DEL T T - rs34142169 TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr6:127804080delT ENST00000556132.1 - 5 2399 c.1535delA c.(1534-1536)agfs p.K512fs SOGA3_ENST00000525778.1_Frame_Shift_Del_p.K512fs|SOGA3_ENST00000481848.2_Frame_Shift_Del_p.K512fs|SOGA3_ENST00000368268.2_Frame_Shift_Del_p.K512fs|SOGA3_ENST00000465909.2_Frame_Shift_Del_p.K512fs NM_001012279.2 NP_001012279.1 Q5TF21 CF174_HUMAN SOGA family member 3 512 integral to membrane CTGTTGAGCCTTTTTTTCAGA 0.294 13 753 --- --- --- --- GRM1 2911 broad.mit.edu 37 6 146350671 146350672 + Frame_Shift_Ins INS - - T TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr6:146350671_146350672insT ENST00000392299.2 + 2 488_489 c.18_19insT c.(16-21)ttttttfs p.FF6fs GRM1_ENST00000355289.4_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000492807.2_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000282753.1_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000361719.2_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000507907.1_Frame_Shift_Ins_p.FF6fs Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 6 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) GGCTCCTTTTGTTTTTTTTCCC 0.644 8 874 --- --- --- --- LPAL2 0 broad.mit.edu 37 6 160908670 160908671 + RNA INS - - T rs149149185 by1000genomes TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr6:160908670_160908671insT ENST00000335388.5 - 0 508 NR_028092.1 large_intestine(1)|lung(4) 5 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) GATTTTAACTGTTTTTTTTTTA 0.356 6 10 --- --- --- --- ZMIZ2 83637 broad.mit.edu 37 7 44805118 44805119 + Frame_Shift_Ins INS - - C TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr7:44805118_44805119insC ENST00000309315.4 + 16 2305_2306 c.2182_2183insC c.(2182-2184)cccfs p.P728fs ZMIZ2_ENST00000265346.7_Frame_Shift_Ins_p.P702fs|ZMIZ2_ENST00000441627.1_Frame_Shift_Ins_p.P728fs|ZMIZ2_ENST00000433667.1_Frame_Shift_Ins_p.P696fs|ZMIZ2_ENST00000413916.1_Frame_Shift_Ins_p.P670fs NM_031449.3 NP_113637.3 Q8NF64 ZMIZ2_HUMAN zinc finger, MIZ-type containing 2 728 Pro-rich. positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear replication fork ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 CCCCGGCGCTGCCCCCTTTGCC 0.698 12 67 --- --- --- --- WBSCR27 155368 broad.mit.edu 37 7 73254452 73254453 + Splice_Site DEL TG TG - TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr7:73254452_73254453delTG ENST00000297873.4 - 5 438 c.e5-2 NM_152559.2 NP_689772.2 Q8N6F8 WBS27_HUMAN Williams Beuren syndrome chromosome region 27 NS(1)|central_nervous_system(1)|lung(2)|prostate(1) 5 Lung NSC(55;0.159) CGAAGGTCCCTGTGTGTGTGTG 0.604 7 382 --- --- --- --- DTX2 113878 broad.mit.edu 37 7 76112249 76112249 + Frame_Shift_Del DEL A A - rs147779783 byFrequency TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr7:76112249delA ENST00000324432.5 + 5 1203 c.693delA c.(691-693)ccfs p.P231fs DTX2_ENST00000430490.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000307569.8_Frame_Shift_Del_p.P231fs|DTX2_ENST00000446600.1_Frame_Shift_Del_p.P140fs|DTX2_ENST00000413936.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000446820.2_Frame_Shift_Del_p.P231fs NM_020892.2 NP_065943.2 Q86UW9 DTX2_HUMAN deltex homolog 2 (Drosophila) 231 Notch signaling pathway cytoplasm|nucleus protein binding|zinc ion binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2) 27 AGCACCCCCCACACAGGACCG 0.657 9 1554 --- --- --- --- STEAP2-AS1 0 broad.mit.edu 37 7 89748927 89748928 + RNA INS - - C rs138239781 by1000genomes TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr7:89748927_89748928insC ENST00000478318.2 - 0 424 RP5-1121E10.2_ENST00000471553.1_lincRNA|DPY19L2P4_ENST00000497063.1_RNA GGTGCGGGCCTCCCCCTTCCCC 0.639 11 9 --- --- --- --- MEPCE 56257 broad.mit.edu 37 7 100028823 100028825 + In_Frame_Del DEL CCA CCA - rs71555278 TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr7:100028823_100028825delCCA ENST00000310512.2 + 1 1570_1572 c.1182_1184delCCA c.(1180-1185)cgc>cg p.RH394del MEPCE_ENST00000414441.1_5'UTR NM_019606.5 NP_062552.2 Q7L2J0 MEPCE_HUMAN methylphosphate capping enzyme 394 methyltransferase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GGGGAGGCCGCCACCACCACCAC 0.581 10 340 --- --- --- --- AGFG2 3268 broad.mit.edu 37 7 100159920 100159921 + Frame_Shift_Ins INS - - C rs34537355 TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr7:100159920_100159921insC ENST00000300176.4 + 7 1038_1039 c.916_917insC c.(916-918)accfs p.T306fs AGFG2_ENST00000474713.1_3'UTR|AGFG2_ENST00000262935.4_3'UTR NM_006076.4 NP_006067.3 O95081 AGFG2_HUMAN ArfGAP with FG repeats 2 306 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 CACTCCCCTGGCACCCGCCAGT 0.639 9 412 --- --- --- --- LRRC17 10234 broad.mit.edu 37 7 102584992 102584993 + Frame_Shift_Ins INS - - A TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr7:102584992_102584993insA ENST00000339431.4 + 4 1559_1560 c.1264_1265insA c.(1264-1266)aaafs p.K422fs FBXL13_ENST00000456695.1_Intron|LRRC17_ENST00000249377.4_3'UTR|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000313221.4_Intron|LRRC17_ENST00000485478.1_3'UTR NM_001031692.2 NP_001026862.1 Q8N6Y2 LRC17_HUMAN leucine rich repeat containing 17 422 bone marrow development|negative regulation of osteoclast differentiation|ossification extracellular space NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 17 TGATGAATGGGAAAAAAAACAT 0.337 7 508 --- --- --- --- RELN 5649 broad.mit.edu 37 7 103629803 103629804 + Translation_Start_Site INS - - GCCGCC TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr7:103629803_103629804insGCCGCC ENST00000428762.1 - 0 159_160 RELN_ENST00000343529.5_Start_Codon_Ins|RELN_ENST00000424685.2_Start_Codon_Ins NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CTGCGCTCCATgccgccgccgc 0.723 10 54 --- --- --- --- TRBV7-6 0 broad.mit.edu 37 7 142139683 142139684 + RNA INS - - A TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr7:142139683_142139684insA ENST00000390374.3 - 0 94 cctacacacaGAAAAAAAAATG 0.490 7 333 --- --- --- --- TRBV29-1 0 broad.mit.edu 37 7 142448200 142448207 + RNA DEL GGTGGAAA GGTGGAAA - rs149832120 by1000genomes TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr7:142448200_142448207delGGTGGAAA ENST00000422143.2 + 0 101 GTTAACACTGGGTGGAAAGGTGGAAAGA 0.457 13 45 --- --- --- --- PRSS3P2 0 broad.mit.edu 37 7 142479817 142479817 + RNA DEL G G - TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr7:142479817delG ENST00000603901.1 + 0 40 NR_001296.3 TGCTTGTTAAGGATTTCTAAC 0.557 40 250 --- --- --- --- RAB11FIP1 80223 broad.mit.edu 37 8 37728933 37728933 + Frame_Shift_Del DEL T T - TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr8:37728933delT ENST00000330843.4 - 4 3399 c.3387delA c.(3385-3387)aafs p.K1129fs RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000524118.1_Intron NM_001002814.2 NP_001002814.2 Q6WKZ4 RFIP1_HUMAN RAB11 family interacting protein 1 (class I) 1129 protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 49 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) CTGCTGTGGCTTTTTTTTGAG 0.542 OREG0018713 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 697 --- --- --- --- RUNX1T1 862 broad.mit.edu 37 8 92998419 92998419 + Frame_Shift_Del DEL T T - TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr8:92998419delT ENST00000523629.1 - 9 1666 c.1212delA c.(1210-1212)aafs p.K404fs RUNX1T1_ENST00000422361.2_Frame_Shift_Del_p.K367fs|RUNX1T1_ENST00000518844.1_Frame_Shift_Del_p.K377fs|RUNX1T1_ENST00000520724.1_Frame_Shift_Del_p.K367fs|RUNX1T1_ENST00000436581.2_Frame_Shift_Del_p.K415fs|RUNX1T1_ENST00000396218.1_Frame_Shift_Del_p.K377fs|RUNX1T1_ENST00000360348.2_Frame_Shift_Del_p.K367fs|RUNX1T1_ENST00000265814.3_Frame_Shift_Del_p.K404fs NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2 NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1 Q06455 MTG8_HUMAN runt-related transcription factor 1; translocated to, 1 (cyclin D-related) 404 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 86 BRCA - Breast invasive adenocarcinoma(11;0.0141) TGCCGCCACCTTTTTTTAAGT 0.517 7 662 --- --- --- --- OXR1 55074 broad.mit.edu 37 8 107704955 107704955 + Splice_Site DEL G G - TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr8:107704955delG ENST00000445937.1 + 7 786 c.e7-1 OXR1_ENST00000497705.1_Splice_Site|OXR1_ENST00000452423.2_Splice_Site|OXR1_ENST00000517566.2_Splice_Site|OXR1_ENST00000312046.6_Splice_Site|OXR1_ENST00000531443.1_Splice_Site|OXR1_ENST00000442977.2_Splice_Site NM_018002.3 NP_060472.2 Q8N573 OXR1_HUMAN oxidation resistance 1 cell wall macromolecule catabolic process|response to oxidative stress mitochondrion NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 31 OV - Ovarian serous cystadenocarcinoma(57;1.81e-09) AAAAAAAAAAGAATCCTGATG 0.348 7 272 --- --- --- --- KANK1 23189 broad.mit.edu 37 9 732475 732477 + In_Frame_Del DEL GAG GAG - TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr9:732475_732477delGAG ENST00000382303.1 + 10 3755_3757 c.3103_3105delGAG c.(3103-3105)del p.E1039del KANK1_ENST00000382297.2_In_Frame_Del_p.E1039del|KANK1_ENST00000382293.3_In_Frame_Del_p.E881del|KANK1_ENST00000489369.1_3'UTR 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 8 438 --- --- --- --- MLLT3 4300 broad.mit.edu 37 9 20413952 20413952 + Frame_Shift_Del DEL T T - TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr9:20413952delT ENST00000380338.4 - 5 1178 c.892delA c.(892-894)ggfs p.R298fs MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Frame_Shift_Del_p.R295fs NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 298 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) CTCTTTTTCCTTTTTTTGGCT 0.393 T MLL ALL 9 627 --- --- --- --- ZCCHC7 84186 broad.mit.edu 37 9 37357250 37357250 + Frame_Shift_Del DEL A A - TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr9:37357250delA ENST00000336755.5 + 9 1723 c.1617delA c.(1615-1617)agfs p.R539fs ZCCHC7_ENST00000534928.1_Frame_Shift_Del_p.R249fs|ZCCHC7_ENST00000461038.1_3'UTR NM_032226.2 NP_115602.2 Q8N3Z6 ZCHC7_HUMAN zinc finger, CCHC domain containing 7 539 R -> K (in dbSNP:rs1051465). nucleic acid binding|zinc ion binding central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 30 GBM - Glioblastoma multiforme(29;0.0137) TTAAGCAGAGAAAAAAAAAGT 0.408 7 188 --- --- --- --- RP11-204M4.2 0 broad.mit.edu 37 9 41962602 41962602 + RNA DEL G G - TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr9:41962602delG ENST00000454645.1 - 0 902 NR_003670.1 TTCTTTCTTTGTTTTTTTTCC 0.373 7 540 --- --- --- --- SVILP1 0 broad.mit.edu 37 10 30987037 30987038 + RNA INS - - T TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr10:30987037_30987038insT ENST00000435645.1 + 0 431 GTGTTCGTTTCTTTTTTAGGCC 0.421 52 116 --- --- --- --- GPRIN2 9721 broad.mit.edu 37 10 46999606 46999607 + Frame_Shift_Ins INS - - GA TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr10:46999606_46999607insGA ENST00000374314.4 + 1 1681_1682 c.726_727insGA c.(724-729)agctggfs p.SW242fs GPRIN2_ENST00000374317.1_Frame_Shift_Ins_p.SW242fs O60269 GRIN2_HUMAN G protein regulated inducer of neurite outgrowth 2 242 R -> G (in dbSNP:rs3127683). VR -> MREVG (in Ref. 1; BAA25440 and 3; AAH11672). breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1) 18 GGGAGGTGAGGGCTGGTGGCTG 0.634 8 467 --- --- --- --- ARID5B 84159 broad.mit.edu 37 10 63852298 63852298 + Frame_Shift_Del DEL A A - TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr10:63852298delA ENST00000279873.7 + 10 3486 c.3076delA c.(3076-3078)aafs p.K1027fs ARID5B_ENST00000309334.5_Frame_Shift_Del_p.K784fs NM_032199.2 NP_115575.1 Q14865 ARI5B_HUMAN AT rich interactive domain 5B (MRF1-like) 1027 liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent protein binding|transcription regulatory region DNA binding NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 Prostate(12;0.016)|all_hematologic(501;0.215) GATTGCAGGGAAAAAGGCCCG 0.607 10 699 --- --- --- --- DNAJC12 56521 broad.mit.edu 37 10 69565430 69565433 + Frame_Shift_Del DEL TCTT TCTT - TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 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 1216 --- --- --- --- RUFY2 55680 broad.mit.edu 37 10 70156583 70156583 + Frame_Shift_Del DEL T T - TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr10:70156583delT ENST00000388768.2 - 4 783 c.457delA c.(457-459)tgfs p.M153fs RUFY2_ENST00000342616.4_Frame_Shift_Del_p.M118fs|RUFY2_ENST00000602465.1_Frame_Shift_Del_p.M118fs|RUFY2_ENST00000399200.2_Intron|RUFY2_ENST00000472394.2_5'UTR|RUFY2_ENST00000454950.2_Frame_Shift_Del_p.M60fs NM_017987.4 NP_060457.4 Q8WXA3 RUFY2_HUMAN RUN and FYVE domain containing 2 167 RUN. nucleus metal ion binding NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2) 20 TAATCGGCCATTTTTTTTTGC 0.398 10 462 --- --- --- --- MUC5AC 4586 broad.mit.edu 37 11 1157562 1157563 + Frame_Shift_Ins INS - - T TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr11:1157562_1157563insT ENST00000356191.2 + 12 733_734 c.733_734insT c.(733-735)cagfs p.Q245fs mucin 5AC, oligomeric mucus/gel-forming NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 203 all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724) ACGGAGCAGTGTCAGGACCCTG 0.619 27 121 --- --- --- --- OR10A5 144124 broad.mit.edu 37 11 6867223 6867225 + In_Frame_Del DEL TTC TTC - TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr11:6867223_6867225delTTC ENST00000299454.4 + 1 341_343 c.310_312delTTC c.(310-312)del p.F108del OR10A5_ENST00000379831.2_In_Frame_Del_p.F112del Q9H207 O10A5_HUMAN olfactory receptor, family 10, subfamily A, member 5 108 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2) 21 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) TCAGATGTATTTCTTCTTCTTCT 0.517 9 666 --- --- --- --- CKAP5 9793 broad.mit.edu 37 11 46829683 46829683 + Frame_Shift_Del DEL T T - TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr11:46829683delT ENST00000529230.1 - 8 922 c.876delA c.(874-876)aafs p.K292fs CKAP5_ENST00000415402.1_Frame_Shift_Del_p.K292fs|CKAP5_ENST00000312055.5_Frame_Shift_Del_p.K292fs|CKAP5_ENST00000354558.3_Frame_Shift_Del_p.K292fs Q14008 CKAP5_HUMAN cytoskeleton associated protein 5 292 cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization centrosome|cytosol protein binding breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 43 TCTCTTGCCATTTTTTTGCCT 0.363 8 1037 --- --- --- --- SLC22A9 114571 broad.mit.edu 37 11 63149668 63149669 + Frame_Shift_Ins INS - - A TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr11:63149668_63149669insA ENST00000279178.3 + 6 1241_1242 c.992_993insA c.(991-993)gcafs p.A331fs SLC22A9_ENST00000310969.4_3'UTR NM_080866.2 NP_543142.2 Q8IVM8 S22A9_HUMAN solute carrier family 22 (organic anion transporter), member 9 331 transmembrane transport integral to membrane breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 18 CTGGAGGCAGCACAAAAAAAAA 0.406 7 890 --- --- --- --- CD3G 917 broad.mit.edu 37 11 118220583 118220583 + Frame_Shift_Del DEL A A - TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr11:118220583delA ENST00000532917.1 + 3 273 c.205delA c.(205-207)aafs p.K71fs CD3G_ENST00000392883.2_Frame_Shift_Del_p.K11fs|CD3G_ENST00000532903.1_3'UTR NM_000073.2 NP_000064.1 P09693 CD3G_HUMAN CD3g molecule, gamma (CD3-TCR complex) 71 Ig-like. establishment or maintenance of cell polarity|protein complex assembly|protein transport|regulation of apoptosis|T cell activation|T cell costimulation|T cell receptor signaling pathway integral to plasma membrane|T cell receptor complex protein heterodimerization activity|receptor signaling complex scaffold activity|T cell receptor binding|transmembrane receptor activity breast(2)|kidney(1)|large_intestine(2)|skin(1) 6 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.04e-05) AACTGAAGATAAAAAAAAATG 0.403 12 307 --- --- --- --- OR6C65 403282 broad.mit.edu 37 12 55794609 55794610 + Frame_Shift_Ins INS - - T TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr12:55794609_55794610insT ENST00000379665.2 + 1 396_397 c.297_298insT c.(295-300)gtttttfs p.VF99fs NM_001005518.1 NP_001005518.1 A6NJZ3 O6C65_HUMAN olfactory receptor, family 6, subfamily C, member 65 99 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L102fs*1(1) cervix(1)|endometrium(2)|large_intestine(3)|lung(9) 15 TGGCCCAAGTATTTTTTTTAAT 0.356 9 704 --- --- --- --- TMEM19 55266 broad.mit.edu 37 12 72094757 72094757 + Frame_Shift_Del DEL T T - TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 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 7 902 --- --- --- --- PABPC3 5042 broad.mit.edu 37 13 25671333 25671333 + Frame_Shift_Del DEL A A - TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr13:25671333delA ENST00000281589.3 + 1 1034 c.997delA c.(997-999)aafs p.K333fs NM_030979.2 NP_112241.2 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 333 RRM 4. mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding p.F335fs*19(1) breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) TGGTCGCAGCAAAGGGTTTGG 0.428 15 1322 --- --- --- --- KIAA1704 0 broad.mit.edu 37 13 45580365 45580367 + In_Frame_Del DEL GAT GAT - rs138421508 TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 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|RP11-321C24.1_ENST00000437748.2_lincRNA|KIAA1704_ENST00000379151.4_In_Frame_Del_p.D88del 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 8 1015 --- --- --- --- MAP3K9 4293 broad.mit.edu 37 14 71275774 71275776 + In_Frame_Del DEL CCT CCT - rs3832971 TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr14:71275774_71275776delCCT ENST00000554752.2 - 1 112_114 c.113_115delAGG c.(112-117)gcg>g p.EA38del MAP3K9_ENST00000381250.4_In_Frame_Del_p.EA38del|MAP3K9_ENST00000555993.2_In_Frame_Del_p.EA38del P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 9 38 Ala-rich.|Poly-Glu. activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity p.E38delE(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) GCCGCCGCCGcctcctcctcctc 0.773 9 35 --- --- --- --- BRF1 2972 broad.mit.edu 37 14 105692436 105692437 + Frame_Shift_Ins INS - - G TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr14:105692436_105692437insG ENST00000546474.1 - 10 15976_15977 c.1017_1018insC c.(1015-1020)gcagggfs p.G340fs BRF1_ENST00000392557.4_Frame_Shift_Ins_p.G136fs|BRF1_ENST00000440513.3_Frame_Shift_Ins_p.G225fs|BRF1_ENST00000551787.1_Intron|BRF1_ENST00000327359.3_Frame_Shift_Ins_p.G225fs|BRF1_ENST00000446501.2_Frame_Shift_Ins_p.G102fs|BRF1_ENST00000379932.4_Intron|BRF1_ENST00000379937.2_Frame_Shift_Ins_p.G313fs NM_001242787.1|NM_001519.3 NP_001229716.1|NP_001510.2 Q92994 TF3B_HUMAN BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit 340 AK -> R (in Ref. 1; AAC50170). positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription transcription factor TFIIIB complex translation initiation factor activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2) 24 all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221) Epithelial(152;0.14) AGGCCCCCCTTGGCCTTTGGCC 0.470 11 496 --- --- --- --- HERC2P2 0 broad.mit.edu 37 15 23283336 23283337 + RNA INS - - T TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr15:23283336_23283337insT ENST00000560464.1 - 0 5097 CTTCCCAATGAGAATCTCTGAA 0.426 12 100 --- --- --- --- SNHG14 0 broad.mit.edu 37 15 25456925 25456925 + RNA DEL G G - TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr15:25456925delG ENST00000424208.1 + 0 2516 SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA NR_003305.1 TGTGTGGGCAGGGGGGGTGCC 0.557 9 1114 --- --- --- --- FAN1 22909 broad.mit.edu 37 15 31196894 31196894 + Frame_Shift_Del DEL A A - TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr15:31196894delA ENST00000362065.4 + 2 319 c.28delA c.(28-30)aafs p.K11fs FAN1_ENST00000565466.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000561594.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000561607.1_Frame_Shift_Del_p.K11fs NM_014967.4 NP_055782.3 Q9Y2M0 FAN1_HUMAN FANCD2/FANCI-associated nuclease 1 11 double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision nucleus 5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1) 29 ACCTCCTGACAAAAAAAGGCC 0.353 Direct reversal of damage 9 779 --- --- --- --- SRP14 6727 broad.mit.edu 37 15 40328597 40328599 + In_Frame_Del DEL TGC TGC - TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr15:40328597_40328599delTGC ENST00000267884.6 - 5 417_419 c.346_348delGCA c.(346-348)del p.A116del SRP14_ENST00000558720.1_In_Frame_Del_p.A36del|SRP14_ENST00000560773.1_In_Frame_Del_p.A36del|SRP14_ENST00000558527.1_5'UTR NM_003134.4 NP_003125.3 P37108 SRP14_HUMAN signal recognition particle 14kDa (homologous Alu RNA binding protein) 116 Ala/Thr-rich. negative regulation of translational elongation|response to drug|SRP-dependent cotranslational protein targeting to membrane cytosol|signal recognition particle, endoplasmic reticulum targeting 7S RNA binding|endoplasmic reticulum signal peptide binding|protein binding endometrium(1)|skin(1)|upper_aerodigestive_tract(1) 3 all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505) ctgcggcaggtgctgctgctgct 0.478 11 341 --- --- --- --- SPATA5L1 79029 broad.mit.edu 37 15 45710840 45710841 + Frame_Shift_Ins INS - - T TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr15:45710840_45710841insT ENST00000305560.6 + 7 2153_2154 c.2054_2055insT c.(2053-2055)tttfs p.F685fs SPATA5L1_ENST00000533841.1_3'UTR NM_024063.2 NP_076968.2 Q9BVQ7 SPA5L_HUMAN spermatogenesis associated 5-like 1 685 cytoplasm ATP binding|nucleoside-triphosphatase activity kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 14 Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07) GCAGAAACCTGTTTTTTTTCTG 0.361 9 539 --- --- --- --- AKAP13 11214 broad.mit.edu 37 15 86287016 86287017 + Frame_Shift_Ins INS - - A TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr15:86287016_86287017insA ENST00000394518.2 + 36 8447_8448 c.8352_8353insA c.(8350-8355)gaaaaafs p.EK2784fs AKAP13_ENST00000361243.2_Frame_Shift_Ins_p.EK2788fs|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000394510.2_Frame_Shift_Ins_p.EK1029fs NM_001270546.1|NM_007200.3 NP_001257475.1|NP_009131.2 Q12802 AKP13_HUMAN A kinase (PRKA) anchor protein 13 2784 Interaction with ESR1.|Poly-Lys. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 98 AAAAGAAGGAGAAAAAAAAGAA 0.545 9 312 --- --- --- --- VPS33B 26276 broad.mit.edu 37 15 91550236 91550238 + In_Frame_Del DEL TCC TCC - rs147271815 TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr15:91550236_91550238delTCC ENST00000333371.3 - 9 995_997 c.642_644delGGA c.(640-645)gat>ga p.ED214del VPS33B_ENST00000535906.1_In_Frame_Del_p.ED187del|VPS33B_ENST00000535843.1_In_Frame_Del_p.ED123del NM_018668.3 NP_061138.3 Q9H267 VP33B_HUMAN vacuolar protein sorting 33 homolog B (yeast) 214 cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule protein binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2) 16 Lung NSC(78;0.0987)|all_lung(78;0.175) GGTTTCGCCATCCTCCTCCTCCT 0.522 9 681 --- --- --- --- EME2 197342 broad.mit.edu 37 16 1824298 1824300 + In_Frame_Del DEL TGC TGC - TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr16:1824298_1824300delTGC ENST00000307394.7 + 3 422_424 c.422_424delTGC c.(421-426)ttg>t p.LL143del EME2_ENST00000568449.1_In_Frame_Del_p.LL143del A4GXA9 EME2_HUMAN essential meiotic structure-specific endonuclease subunit 2 143 DNA recombination|DNA repair nucleus DNA binding|endonuclease activity central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1) 9 GAACAGGAATTGCTGCTGCTGCT 0.655 Direct reversal of damage;Homologous recombination 7 665 --- --- --- --- NLRC3 197358 broad.mit.edu 37 16 3594163 3594163 + RNA DEL A A - rs60164526 TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr16:3594163delA ENST00000301749.7 - 0 3261 NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000603507.1_RNA NM_178844.2 NP_849172.2 Q7RTR2 NLRC3_HUMAN NLR family, CARD domain containing 3 I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation cytoplasm ATP binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 tgtctcgaggaaaaaaaaaaa 0.488 9 26 --- --- --- --- SLC5A11 115584 broad.mit.edu 37 16 24921737 24921739 + In_Frame_Del DEL CAG CAG - TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr16:24921737_24921739delCAG ENST00000347898.3 + 15 2383_2385 c.1761_1763delCAG c.(1759-1764)gcc>gc p.AS587del SLC5A11_ENST00000567758.1_In_Frame_Del_p.AS552del|SLC5A11_ENST00000539472.1_In_Frame_Del_p.AS523del|SLC5A11_ENST00000569071.1_In_Frame_Del_p.AS431del|SLC5A11_ENST00000545376.1_In_Frame_Del_p.AS517del|SLC5A11_ENST00000424767.2_In_Frame_Del_p.AS552del|SLC5A11_ENST00000568579.1_In_Frame_Del_p.AS517del|SLC5A11_ENST00000565769.1_In_Frame_Del_p.AS523del|SLC5A11_ENST00000449109.2_In_Frame_Del_p.AS431del NM_052944.3 NP_443176.2 Q8WWX8 SC5AB_HUMAN solute carrier family 5 (sodium/inositol cotransporter), member 11 587 apoptosis|carbohydrate transport|sodium ion transport integral to membrane|plasma membrane polyol transmembrane transporter activity|symporter activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1) 49 GBM - Glioblastoma multiforme(48;0.0365) TGCCAGAGGCCAGCAGCAGCAGC 0.542 11 344 --- --- --- --- IL4R 3566 broad.mit.edu 37 16 27373787 27373789 + In_Frame_Del DEL GAG GAG - TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr16:27373787_27373789delGAG ENST00000395762.2 + 11 1373_1375 c.1114_1116delGAG c.(1114-1116)del p.E376del IL4R_ENST00000170630.2_In_Frame_Del_p.E376del|IL4R_ENST00000543915.2_In_Frame_Del_p.E376del|IL4R_ENST00000380922.3_In_Frame_Del_p.E361del|IL4R_ENST00000565915.1_3'UTR NM_000418.3 NP_000409.1 P24394 IL4RA_HUMAN interleukin 4 receptor 376 Poly-Glu. immune response|production of molecular mediator involved in inflammatory response integral to plasma membrane identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 33 GGTGGAGTGTGAGGAGGAGGAGG 0.591 8 329 --- --- --- --- SRCAP 10847 broad.mit.edu 37 16 30736370 30736371 + Frame_Shift_Ins INS - - C TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr16:30736370_30736371insC ENST00000262518.4 + 25 6010_6011 c.5625_5626insC c.(5623-5628)caccccfs p.HP1875fs SRCAP_ENST00000395059.2_Frame_Shift_Ins_p.HP1813fs|SRCAP_ENST00000344771.4_Frame_Shift_Ins_p.HP1717fs NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 1875 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) CTCGACGCCAGCCCCCCCCACC 0.569 13 626 --- --- --- --- RP11-1166P10.8 0 broad.mit.edu 37 16 32126700 32126726 + RNA DEL AATGTGAACATACAAAAAACAAATCAG AATGTGAACATACAAAAAACAAATCAG - TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr16:32126700_32126726delAATGTGAACATACAAAAAACAAATCAG ENST00000564145.1 - 0 456 ATGCCTGCCAAATGTGAACATACAAAAAACAAATCAGAATGTGCCAT 0.352 2 4 --- --- --- --- IRX6 79190 broad.mit.edu 37 16 55362674 55362676 + In_Frame_Del DEL GAG GAG - TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr16:55362674_55362676delGAG ENST00000290552.7 + 5 2116_2118 c.784_786delGAG c.(784-786)del p.E268del RP11-26L20.3_ENST00000558730.2_RNA NM_024335.2 NP_077311.2 P78412 IRX6_HUMAN iroquois homeobox 6 268 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 CCTggaggaagaggaggaggagg 0.626 19 416 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7579320 7579321 + Frame_Shift_Ins INS - - C TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr17:7579320_7579321insC ENST00000420246.2 - 4 498_499 c.366_367insG c.(364-369)gtcttgfs p.VL122fs TP53_ENST00000413465.2_Frame_Shift_Ins_p.VL122fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.VL122fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.VL122fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.VL122fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.VL122fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 122 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. V -> L (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.V122fs*26(5)|p.G59fs*23(3)|p.V73fs*9(1)|p.T123fs*24(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.V122fs*46(1)|p.Y107fs*44(1)|p.P13fs*18(1)|p.S33fs*23(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) ACCGTGCAAGTCACAGACTTGG 0.550 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 58 228 --- --- --- --- CHD3 1107 broad.mit.edu 37 17 7796808 7796809 + Frame_Shift_Ins INS - - C TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr17:7796808_7796809insC ENST00000380358.4 + 5 892_893 c.891_892insC c.(889-894)ggccccfs p.GP297fs CHD3_ENST00000358181.4_Frame_Shift_Ins_p.GP238fs|CHD3_ENST00000330494.7_Frame_Shift_Ins_p.GP238fs NM_001005271.2 NP_001005271.2 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 238 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) CACCCTCCGGACCCCCCGCCCT 0.639 7 110 --- --- --- --- ATAD5 79915 broad.mit.edu 37 17 29220776 29220776 + Frame_Shift_Del DEL A A - TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr17:29220776delA ENST00000321990.4 + 21 5283 c.4905delA c.(4903-4905)ggfs p.G1635fs NM_024857.3 NP_079133.3 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 1635 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1) 51 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) CAACTGCAGGAAAAAAATGTT 0.383 7 868 --- --- --- --- GAS2L2 246176 broad.mit.edu 37 17 34071994 34071996 + In_Frame_Del DEL TCC TCC - TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 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 8 202 --- --- --- --- KRT10 3858 broad.mit.edu 37 17 38978766 38978768 + In_Frame_Del DEL TCC TCC - TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 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 11 162 --- --- --- --- HOXB2 3212 broad.mit.edu 37 17 46620492 46620492 + Frame_Shift_Del DEL A A - rs113828741 byFrequency TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr17:46620492delA ENST00000330070.4 - 2 2176 c.1009delT c.(1009-1011)ccfs p.S337fs HOXB2_ENST00000504772.3_5'UTR NM_002145.3 NP_002136.1 P14652 HXB2_HUMAN homeobox B2 337 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 TCTTCCTCGGAAAAAGGGACC 0.597 8 1122 --- --- --- --- RP11-178C3.2 0 broad.mit.edu 37 17 58050857 58050857 + RNA DEL G G - TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr17:58050857delG ENST00000586209.1 + 0 158 TTTTTTTTTTGGCAGTTTTTA 0.423 12 90 --- --- --- --- AATK 9625 broad.mit.edu 37 17 79093270 79093271 + In_Frame_Ins INS - - GGGCGT rs55713566 TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr17:79093270_79093271insGGGCGT ENST00000326724.4 - 13 4017_4018 c.3993_3994insACGCCC c.(3991-3996)ccctcc>ccACGCCCctcc p.1330_1331insPR AATK_ENST00000417379.1_In_Frame_Ins_p.1227_1228insPR NM_001080395.2 NP_001073864.2 Q6ZMQ8 LMTK1_HUMAN apoptosis-associated tyrosine kinase 1330 integral to membrane|mitochondrion|perinuclear region of cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.P1331_A1332insTP(1) endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1) 21 all_neural(118;0.101) BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524) GAGAAGGGAGCGGGCGTGGGCG 0.713 31 149 --- --- --- --- OSBPL1A 114876 broad.mit.edu 37 18 21745096 21745097 + Frame_Shift_Ins INS - - T TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 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 14 713 --- --- --- --- ZSWIM4 65249 broad.mit.edu 37 19 13941582 13941583 + Frame_Shift_Ins INS - - G TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr19:13941582_13941583insG ENST00000254323.2 + 13 2877_2878 c.2688_2689insG c.(2686-2691)ttgggcfs p.LG896fs ZSWIM4_ENST00000440752.2_Frame_Shift_Ins_p.LG730fs NM_023072.2 NP_075560.2 Q9H7M6 ZSWM4_HUMAN zinc finger, SWIM-type containing 4 896 zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19) TGGGCCCCTTAGGGGCACGCCG 0.693 25 339 --- --- --- --- CHERP 10523 broad.mit.edu 37 19 16640581 16640583 + In_Frame_Del DEL TGC TGC - TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr19:16640581_16640583delTGC ENST00000546361.2 - 8 1156_1158 c.1005_1007delGCA c.(1003-1008)caa>ca p.QQ339del CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000198939.6_In_Frame_Del_p.QQ350del NM_006387.5 NP_006378.3 Q8IWX8 CHERP_HUMAN calcium homeostasis endoplasmic reticulum protein 339 Gln-rich. cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing endoplasmic reticulum|perinuclear region of cytoplasm RNA binding endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3) 24 ctgctgctgttgctgctgctgct 0.670 7 161 --- --- --- --- ZNF43 7594 broad.mit.edu 37 19 22002025 22002026 + Splice_Site INS - - A TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr19:22002025_22002026insA ENST00000594012.1 - 5 500 c.e5-2 ZNF43_ENST00000354959.4_Splice_Site|ZNF43_ENST00000598288.1_Splice_Site|ZNF43_ENST00000598381.1_Splice_Site|ZNF43_ENST00000595461.1_Splice_Site NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1 NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1 P17038 ZNF43_HUMAN zinc finger protein 43 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.?(1) autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2) 51 Renal(1328;0.000219)|Hepatocellular(1079;0.121) GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127) CAATGGTCCCTAAAAAAAACAA 0.386 7 523 --- --- --- --- WDR62 284403 broad.mit.edu 37 19 36583666 36583668 + In_Frame_Del DEL GCA GCA - TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr19:36583666_36583668delGCA ENST00000401500.2 + 19 2321_2323 c.2286_2288delGCA c.(2284-2289)cgg>cg p.RQ762del WDR62_ENST00000270301.7_In_Frame_Del_p.RQ762del NM_001083961.1|NM_173636.4 NP_001077430.1|NP_775907.4 O43379 WDR62_HUMAN WD repeat domain 62 762 cerebral cortex development nucleus cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3) 43 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) TTGACCACCGGCAGCAGCAGCAG 0.616 11 775 --- --- --- --- ZNF566 84924 broad.mit.edu 37 19 36940853 36940853 + Frame_Shift_Del DEL A A - TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr19:36940853delA ENST00000454319.1 - 5 420 c.286delT c.(286-288)atfs p.Y96fs ZNF566_ENST00000392170.2_Frame_Shift_Del_p.Y96fs|ZNF566_ENST00000493391.1_5'UTR|ZNF566_ENST00000434377.2_Frame_Shift_Del_p.Y95fs|ZNF566_ENST00000424129.2_Frame_Shift_Del_p.Y95fs NM_001145343.1|NM_001145344.1|NM_001145345.1 NP_001138815.1|NP_001138816.1|NP_001138817.1 Q969W8 ZN566_HUMAN zinc finger protein 566 95 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Esophageal squamous(110;0.162) TCTATTTCATAAATTTCTTTC 0.348 103 804 --- --- --- --- FAM98C 147965 broad.mit.edu 37 19 38899416 38899416 + Frame_Shift_Del DEL G G - TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr19:38899416delG ENST00000252530.5 + 8 963 c.944delG c.(943-945)cgfs p.R315fs FAM98C_ENST00000343358.7_Frame_Shift_Del_p.R233fs|FAM98C_ENST00000588262.1_Frame_Shift_Del_p.P181fs NM_174905.3 NP_777565.3 Q17RN3 FA98C_HUMAN family with sequence similarity 98, member C 315 p.R315L(1) endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 15 all_cancers(60;3.95e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) GTTCCAGACCGGGGGGGCCGC 0.562 8 907 --- --- --- --- IFNL1 282618 broad.mit.edu 37 19 39787103 39787117 + In_Frame_Del DEL AGGCTTGGCCGTGGC AGGCTTGGCCGTGGC - TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr19:39787103_39787117delAGGCTTGGCCGTGGC ENST00000333625.2 + 1 139_153 c.42_56delAGGCTTGGCCGTGGC c.(40-57)cta>ct p.LGLAVA14del NM_172140.1 NP_742152.1 interferon, lambda 1 CTTTGGTGCTAGGCTTGGCCGTGGCAGGCCCTGTC 0.577 29 710 --- --- --- --- PRX 57716 broad.mit.edu 37 19 40900180 40900182 + In_Frame_Del DEL TCC TCC - TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr19:40900180_40900182delTCC ENST00000324001.7 - 7 4347_4349 c.4077_4079delGGA c.(4075-4080)gaa>ga p.EE1359del PRX_ENST00000291825.7_3'UTR NM_181882.2 NP_870998.2 Q9BXM0 PRAX_HUMAN periaxin 1359 Poly-Glu. Missing. axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) ACTGCcctcttcctcctcctcct 0.695 11 207 --- --- --- --- ZC3H4 23211 broad.mit.edu 37 19 47572401 47572403 + In_Frame_Del DEL CTC CTC - TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr19:47572401_47572403delCTC ENST00000253048.5 - 14 2381_2383 c.2344_2346delGAG c.(2344-2346)del p.E782del ZC3H4_ENST00000594019.1_Intron NM_015168.1 NP_055983.1 Q9UPT8 ZC3H4_HUMAN zinc finger CCCH-type containing 4 782 nucleic acid binding|zinc ion binding NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 41 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) TCCTCGCTCTCTCCTCCTCCTCC 0.700 7 695 --- --- --- --- hsa-mir-125a 0 broad.mit.edu 37 19 52196115 52196116 + RNA INS - - GGCTGCGCCCTGCAC TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr19:52196115_52196116insGGCTGCGCCCTGCAC ENST00000602324.1 - 0 593_594 MIRLET7E_ENST00000362102.1_RNA NR_029482.1|NR_029693.1 AGCTTTCCCCAGGCTGCGCCCT 0.693 13 193 --- --- --- --- ZNF337 26152 broad.mit.edu 37 20 25657231 25657232 + Frame_Shift_Del DEL TG TG - TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr20:25657231_25657232delTG ENST00000376436.1 - 4 1231_1232 c.692_693delCA c.(691-693)afs p.T231fs ZNF337_ENST00000252979.5_Frame_Shift_Del_p.T231fs|RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000538750.1_Frame_Shift_Del_p.T199fs|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA zinc finger protein 337 breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 ACTTCTCTCCTGTGTGTGTGTT 0.510 8 501 --- --- --- --- NCOA3 8202 broad.mit.edu 37 20 46279864 46279866 + In_Frame_Del DEL CAA CAA - rs112129664 byFrequency TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr20:46279864_46279866delCAA ENST00000372004.3 + 20 3994_3996 c.3778_3780delCAA c.(3778-3780)del p.Q1272del NCOA3_ENST00000371997.3_In_Frame_Del_p.Q1267del|NCOA3_ENST00000371998.3_In_Frame_Del_p.Q1276del|NCOA3_ENST00000341724.6_In_Frame_Del_p.Q1202del NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2 NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 1276 Acetyltransferase.|Poly-Gln. androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 gcagcagcagcaacagcaacagc 0.567 26 256 --- --- --- --- DDX27 55661 broad.mit.edu 37 20 47858504 47858504 + Frame_Shift_Del DEL A A - TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr20:47858504delA ENST00000371764.4 + 17 2074 c.2065delA c.(2065-2067)aafs p.K691fs DDX27_ENST00000484427.1_3'UTR|ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000469991.1_Intron NM_017895.7 NP_060365.7 Q96GQ7 DDX27_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 691 nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding p.K691fs*4(3) NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GAAGGATGCCAAAAAAAAGGG 0.488 12 508 --- --- --- --- YTHDF1 54915 broad.mit.edu 37 20 61833650 61833652 + In_Frame_Del DEL CCT CCT - TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr20:61833650_61833652delCCT ENST00000370339.3 - 4 1981_1983 c.1640_1642delAGG c.(1639-1644)gtg>g p.EV547del YTHDF1_ENST00000370333.4_In_Frame_Del_p.EV497del|YTHDF1_ENST00000370334.4_Intron NM_017798.3 NP_060268.2 Q9BYJ9 YTHD1_HUMAN YTH domain family, member 1 547 NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2) 24 TTGCGCACCACCTCCTCCTCCTC 0.557 9 698 --- --- --- --- MED15 51586 broad.mit.edu 37 22 20918916 20918918 + In_Frame_Del DEL CAG CAG - TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr22:20918916_20918918delCAG ENST00000263205.7 + 6 700_702 c.631_633delCAG c.(631-633)del p.Q218del MED15_ENST00000542773.1_In_Frame_Del_p.Q23del|MED15_ENST00000406969.1_In_Frame_Del_p.Q192del|MED15_ENST00000425759.2_In_Frame_Del_p.Q107del|MED15_ENST00000382974.2_In_Frame_Del_p.Q147del|MED15_ENST00000541476.1_In_Frame_Del_p.Q192del|MED15_ENST00000292733.7_In_Frame_Del_p.Q218del NM_001003891.1 NP_001003891.1 Q96RN5 MED15_HUMAN mediator complex subunit 15 218 Poly-Gln. Missing (in Ref. 4; CAG30423). regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 25 all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209) gcagcagctccagcagcagcagc 0.567 OREG0026319 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 95 --- --- --- --- TCF20 6942 broad.mit.edu 37 22 42610573 42610575 + In_Frame_Del DEL AGG AGG - TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chr22:42610573_42610575delAGG ENST00000359486.3 - 1 873_875 c.737_739delCCT c.(736-741)ttc>t p.SF246del TCF20_ENST00000335626.4_In_Frame_Del_p.SF246del NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 246 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 GGTGAAGGGAaggaggaggagga 0.507 10 350 --- --- --- --- PAK3 5063 broad.mit.edu 37 X 110406206 110406208 + In_Frame_Del DEL GAA GAA - TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chrX:110406206_110406208delGAA ENST00000519681.1 + 10 1037_1039 c.595_597delGAA c.(595-597)del p.E203del PAK3_ENST00000417227.1_In_Frame_Del_p.E203del|PAK3_ENST00000518291.1_In_Frame_Del_p.E218del|PAK3_ENST00000446737.1_In_Frame_Del_p.E182del|PAK3_ENST00000425146.1_In_Frame_Del_p.E182del|PAK3_ENST00000262836.4_In_Frame_Del_p.E197del|PAK3_ENST00000372007.4_In_Frame_Del_p.E182del|PAK3_ENST00000372010.1_In_Frame_Del_p.E197del|PAK3_ENST00000360648.4_In_Frame_Del_p.E218del O75914 PAK3_HUMAN p21 protein (Cdc42/Rac)-activated kinase 3 197 Linker. multicellular organismal development ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 agatgaagaggaagaagaagaag 0.394 TSP Lung(19;0.15) 7 410 --- --- --- --- ZNF185 7739 broad.mit.edu 37 X 152087570 152087572 + In_Frame_Del DEL GAG GAG - TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chrX:152087570_152087572delGAG ENST00000535861.1 + 7 523_525 c.475_477delGAG c.(475-477)del p.E165del ZNF185_ENST00000324823.6_In_Frame_Del_p.E30del|ZNF185_ENST00000449285.2_In_Frame_Del_p.E165del|ZNF185_ENST00000318529.8_In_Frame_Del_p.E30del|ZNF185_ENST00000318504.7_In_Frame_Del_p.E165del|ZNF185_ENST00000370268.4_In_Frame_Del_p.E165del|ZNF185_ENST00000539731.1_In_Frame_Del_p.E165del|ZNF185_ENST00000370270.1_In_Frame_Del_p.E25del NM_001178106.1 NP_001171577.1 O15231 ZN185_HUMAN zinc finger protein 185 (LIM domain) 165 Poly-Glu. cytoplasm|cytoskeleton|focal adhesion zinc ion binding NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3) 12 Acute lymphoblastic leukemia(192;6.56e-05) AGGGGACACCgaggaggaggagg 0.596 10 118 --- --- --- --- SLC9B1P1 0 broad.mit.edu 37 Y 13524683 13524685 + In_Frame_Del DEL ACA ACA - TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64433ce6-3172-4d93-97af-a61bc487b4d4 24455824-9f86-49b4-a078-ab7e8fdce629 g.chrY:13524683_13524685delACA ENST00000331172.6 - 1 32_34 c.33_35delTGT c.(31-36)gtc>gt p.VV11del CGTGTAAAGGACAACAACAGCAG 0.379 8 422 --- --- --- ---