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 POTEC 388468 broad.mit.edu 37 18 14513764 14513764 + Missense_Mutation SNP C C T TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr18:14513764C>T ENST00000358970.5 - 10 1429 c.1430G>A c.(1429-1431)cGg>cAg p.R477Q NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 477 p.R477Q(12) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 AAGTTGTTTCCGGGTATCATT 0.358000 6 177 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522786 95522786 + RNA SNP T T C TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr2:95522786T>C ENST00000432432.2 - 0 241 NR_040113.1 p.K44K(1) CGGCGTCGCCTTTGACAGCTG 0.687000 10 331 0 0 1 0 0 TBC1D3P2 0 broad.mit.edu 37 17 60342186 60342186 + RNA SNP T T C rs79096325 TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr17:60342186T>C ENST00000581291.1 - 0 1967 breast(2)|kidney(1)|lung(2) 5 GCTGGGGGTGTTGGGAGGGGC 0.498000 3 58 0 0 1 0 0 GLUD1P2 0 broad.mit.edu 37 10 48968566 48968566 + RNA SNP A A G TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr10:48968566A>G ENST00000594520.1 + 0 723 ACAGGATAACAAACTGGAAAA 0.318000 13 144 0 0 1 0 0 BTN2A3P 0 broad.mit.edu 37 6 26422353 26422353 + RNA SNP C C T rs141013110 TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr6:26422353C>T ENST00000466808.2 + 0 7 p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 12 595 0 0 1 0 0 CYP2A6 1548 broad.mit.edu 37 19 41355876 41355876 + Missense_Mutation SNP G G A TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr19:41355876G>A ENST00000301141.5 - 2 210 c.190C>T c.(190-192)Cgc>Tgc p.R64C CTC-490E21.12_ENST00000601627.1_Intron NM_000762.5 NP_000753.3 P11509 CP2A6_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 6 64 coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2) 37 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752) GGGCCATAGCGCTCACTGATC 0.617000 7 201 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q Q96L91 EP400_HUMAN E1A binding protein p400 2761 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2724Q(16)|p.Q2725Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcagcaacaacagc 0.562000 33 285 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664141 22664141 + RNA SNP G G A TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr22:22664141G>A ENST00000426066.1 + 0 664 NR_027293.1 AAATTTGAAGGTGCTGTGATT 0.448000 13 544 0 0 1 0 0 SPATA31A6 389730 broad.mit.edu 37 9 43627428 43627428 + Missense_Mutation SNP G G A rs11261835 by1000genomes TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr9:43627428G>A ENST00000332857.6 - 4 1287 c.1259C>T c.(1258-1260)cCc>cTc p.P420L NM_001145196.1 NP_001138668.1 SPATA31 subfamily A, member 6 p.P420L(1) GTGCAGAGAGGGGAGGCCCCA 0.498000 15 699 0 0 1 0 0 TSSC2 0 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 8 251 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72821618 72821618 + Silent SNP A A G rs112443847 TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr16:72821618A>G ENST00000268489.5 - 10 11229 c.10557T>C c.(10555-10557)ggT>ggC p.G3519G ZFHX3_ENST00000397992.5_Silent_p.G2605G|AC004943.1_ENST00000584072.1_RNA NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3519 Poly-Gly. muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.G3519G(3) NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) cgccgccgccaccgccgccgc 0.716000 8 217 0 0 1 0 0 ZNRD1-AS1 0 broad.mit.edu 37 6 29974804 29974804 + RNA SNP A A G TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr6:29974804A>G ENST00000376797.3 - 0 1346 ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA TGACCGAGTGAACCTGCGGAC 0.672000 11 73 0 0 1 0 0 RP11-368J21.3 0 broad.mit.edu 37 16 22588015 22588015 + RNA SNP A A G rs460493 by1000genomes TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr16:22588015A>G ENST00000550753.1 + 0 2490 NR_003676.2 TGGCCTGAGCACATCGTCCTG 0.557000 14 483 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195400799 195400799 + RNA SNP G G A rs7635172 by1000genomes TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr3:195400799G>A ENST00000445430.1 + 0 1395 CAAACTCGCTGTTGGACCTGG 0.597000 7 197 0 0 1 0 0 SEMA5B 54437 broad.mit.edu 37 3 122680141 122680141 + Silent SNP A A G rs13094003 by1000genomes TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr3:122680141A>G ENST00000451055.2 - 2 142 c.132T>C c.(130-132)ggT>ggC p.G44G SEMA5B_ENST00000357599.3_5'UTR|SEMA5B_ENST00000465147.1_Intron|SEMA5B_ENST00000195173.4_5'UTR NM_001256347.1 NP_001243276.1 Q9P283 SEM5B_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B 0 cell differentiation|nervous system development integral to membrane receptor activity p.G44G(11) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3) 55 GBM - Glioblastoma multiforme(114;0.0367) ACCAGCTGGAACCACTCACTG 0.577000 6 190 0 0 1 0 0 ZNRD1-AS1 0 broad.mit.edu 37 6 29974802 29974802 + RNA SNP T T A TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr6:29974802T>A ENST00000376797.3 - 0 1346 ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA ACTGACCGAGTGAACCTGCGG 0.672000 11 74 0 0 1 0 0 ZNRD1-AS1 0 broad.mit.edu 37 6 29974845 29974845 + RNA SNP G G C TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr6:29974845G>C ENST00000376797.3 - 0 1346 ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA AGAGCGAGGCGGGTGAGTGAC 0.667000 11 66 0 0 1 0 0 PRSS3P2 0 broad.mit.edu 37 7 142479940 142479940 + RNA SNP C C T rs58649169 by1000genomes TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr7:142479940C>T ENST00000603901.1 + 0 72 NR_001296.3 ATGACAAGATCGTTGGGGGCT 0.557000 10 260 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628300 29628300 + Missense_Mutation SNP G G A TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr20:29628300G>A ENST00000278882.3 + 6 682 c.302G>A c.(301-303)aGt>aAt p.S101N FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N p.S101N(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GAAGCAAAAAGTAAAACAGCA 0.358000 22 394 0 0 1 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78212618 78212618 + RNA SNP A A G TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr15:78212618A>G ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA TGTAACCGCCACTGGAGGACC 0.562000 5 222 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803646 142803646 + RNA SNP G G A TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr1:142803646G>A ENST00000423385.1 - 0 1319 gttgtattctgggctagacat 0.299000 17 238 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195400795 195400795 + RNA SNP C C T rs7615357 by1000genomes TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr3:195400795C>T ENST00000445430.1 + 0 1391 GGGGCAAACTCGCTGTTGGAC 0.592000 7 203 0 0 1 0 0 POLR3B 55703 broad.mit.edu 37 12 106820980 106820980 + Missense_Mutation SNP A A T TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr12:106820980A>T ENST00000228347.4 + 13 1329 c.1107A>T c.(1105-1107)ttA>ttT p.L369F POLR3B_ENST00000539066.1_Missense_Mutation_p.L311F|POLR3B_ENST00000549195.1_3'UTR NM_018082.5 NP_060552.4 Q9NW08 RPC2_HUMAN polymerase (RNA) III (DNA directed) polypeptide B 369 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 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 TTTAGCTTTTATCTCTTCTTT 0.269000 10 50 0 0 1 0 0 SIRPA 140885 broad.mit.edu 37 20 1902301 1902301 + Missense_Mutation SNP G G A TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr20:1902301G>A ENST00000358771.4 + 3 849 c.697G>A c.(697-699)Gtc>Atc p.V233I SIRPA_ENST00000400068.3_Missense_Mutation_p.V233I|SIRPA_ENST00000356025.3_Missense_Mutation_p.V233I NM_001040023.1 NP_001035112.1 P78324 SHPS1_HUMAN signal-regulatory protein alpha 233 Ig-like C1-type 1. blood coagulation|cell adhesion|cell junction assembly|leukocyte migration integral to membrane|plasma membrane SH3 domain binding p.V233I(1) cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 21 Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556) GGTGGCCCACGTCACCTTGCA 0.617000 7 299 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 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 9 230 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S168S(5) 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) tgctgctgctgctactgctgc 0.537000 T MLL ALL 21 414 0 0 1 0 0 DNAJC11 55735 broad.mit.edu 37 1 6727803 6727804 + Frame_Shift_Del DEL TC TC - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr1:6727803_6727804delTC ENST00000377577.5 - 4 466_467 c.343_344delGA c.(343-345)afs p.E116fs DNAJC11_ENST00000542246.1_Frame_Shift_Del_p.E78fs|DNAJC11_ENST00000377573.5_Frame_Shift_Del_p.E26fs|DNAJC11_ENST00000349363.6_Frame_Shift_Del_p.E78fs|DNAJC11_ENST00000294401.7_Frame_Shift_Del_p.E116fs NM_018198.3 NP_060668.2 Q9NVH1 DJC11_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 11 116 protein folding heat shock protein binding|unfolded protein binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1) 32 Ovarian(185;0.0265)|all_lung(157;0.154) all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649) TCTCCTCTCTTCTCTCTCTCTC 0.505 17 262 --- --- --- --- RERE 473 broad.mit.edu 37 1 8716322 8716327 + In_Frame_Del DEL TCTTTG TCTTTG - rs3831914 TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr1:8716322_8716327delTCTTTG ENST00000337907.3 - 3 664_669 c.30_35delCAAAGA c.(28-36)gag>ga p.DKE10del RERE_ENST00000400907.2_In_Frame_Del_p.DKE10del|RERE_ENST00000400908.2_In_Frame_Del_p.DKE10del NM_012102.3 NP_036234.3 Q9P2R6 RERE_HUMAN arginine-glutamic acid dipeptide (RE) repeats 10 multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) ccggtccttctctttgtctttgtctt 0.539 7 1289 --- --- --- --- PHACTR4 65979 broad.mit.edu 37 1 28800272 28800273 + Frame_Shift_Ins INS - - C TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr1:28800272_28800273insC ENST00000373839.3 + 7 1291_1292 c.1030_1031insC c.(1030-1032)cccfs p.P344fs PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.P354fs NM_001048183.1 NP_001041648.1 Q8IZ21 PHAR4_HUMAN phosphatase and actin regulator 4 344 Pro-rich. actin binding|protein phosphatase inhibitor activity p.P356fs*33(1) NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649) TCGCTCTCCGTCCCCCCCACTG 0.515 8 1082 --- --- --- --- SRSF4 6429 broad.mit.edu 37 1 29475219 29475221 + In_Frame_Del DEL CTT CTT - rs138237342 by1000genomes TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr1:29475219_29475221delCTT ENST00000373795.4 - 6 1420_1422 c.1186_1188delAAG c.(1186-1188)del p.K396del SRSF4_ENST00000466448.1_5'UTR|SRSF4_ENST00000546138.1_3'UTR NM_005626.4 NP_005617.2 Q08170 SRSF4_HUMAN serine/arginine-rich splicing factor 4 396 Arg/Ser-rich (RS domain). mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nuclear speck nucleotide binding|RNA binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1) 27 CAGTGTCTTCCTTCTTCTTCTTC 0.601 19 772 --- --- --- --- CCDC28B 79140 broad.mit.edu 37 1 32670247 32670248 + Frame_Shift_Del DEL TG TG - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr1:32670247_32670248delTG ENST00000421922.2 + 5 674_675 c.574_575delTG c.(574-576)tfs p.C192fs CCDC28B_ENST00000483009.1_Intron|CCDC28B_ENST00000373602.5_Intron Q9BUN5 CC28B_HUMAN coiled-coil domain containing 28B 0 large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2) 10 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) AACCCGTCTATGTGTGTGTGTT 0.500 8 1147 --- --- --- --- RSPO1 284654 broad.mit.edu 37 1 38078467 38078469 + In_Frame_Del DEL TGC TGC - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr1:38078467_38078469delTGC ENST00000356545.2 - 8 1537_1539 c.750_752delGCA c.(748-753)caa>ca p.QQ250del RSPO1_ENST00000401069.1_In_Frame_Del_p.QQ250del|RSPO1_ENST00000401071.2_In_Frame_Del_p.QQ187del|RSPO1_ENST00000401070.1_In_Frame_Del_p.QQ187del|RSPO1_ENST00000373059.1_In_Frame_Del_p.QQ223del|RSPO1_ENST00000401068.1_In_Frame_Del_p.QQ250del NM_001038633.3 NP_001033722.1 Q2MKA7 RSPO1_HUMAN R-spondin 1 250 positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization heparin binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5) 12 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CACTGTCCCTTGCTGCTGCTGCT 0.621 10 795 --- --- --- --- PTPRF 5792 broad.mit.edu 37 1 44071946 44071948 + In_Frame_Del DEL GCG GCG - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr1:44071946_44071948delGCG ENST00000359947.4 + 20 3859_3861 c.3519_3521delGCG c.(3517-3522)cag>ca p.QR1173del PTPRF_ENST00000372413.3_In_Frame_Del_p.QR1164del|PTPRF_ENST00000372414.3_In_Frame_Del_p.QR1173del|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_In_Frame_Del_p.QR521del|PTPRF_ENST00000438120.1_In_Frame_Del_p.QR1164del 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 9 711 --- --- --- --- ZNF644 84146 broad.mit.edu 37 1 91406039 91406040 + Frame_Shift_Ins INS - - T TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr1:91406039_91406040insT ENST00000370440.1 - 3 1088_1089 c.871_872insA c.(871-873)aaafs p.K291fs ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000337393.5_Frame_Shift_Ins_p.K291fs 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 9 286 --- --- --- --- COL11A1 1301 broad.mit.edu 37 1 103355065 103355065 + Frame_Shift_Del DEL T T - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr1:103355065delT ENST00000358392.2 - 59 4763 c.4446delA c.(4444-4446)aafs p.K1482fs COL11A1_ENST00000370096.3_Frame_Shift_Del_p.K1470fs|COL11A1_ENST00000512756.1_Frame_Shift_Del_p.K1354fs|COL11A1_ENST00000353414.4_Frame_Shift_Del_p.K1431fs NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1470 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) CTCGGTCACCTTTTTCCCCTT 0.408 7 485 --- --- --- --- EPS8L3 79574 broad.mit.edu 37 1 110300579 110300580 + Frame_Shift_Ins INS - - T TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr1:110300579_110300580insT ENST00000369805.3 - 9 1050_1051 c.821_822insA c.(820-822)aaafs p.K274fs EPS8L3_ENST00000361852.4_Frame_Shift_Ins_p.K273fs|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361965.4_Frame_Shift_Ins_p.K273fs NM_133181.3|NM_139053.2 NP_573444.2|NP_620641.1 Q8TE67 ES8L3_HUMAN EPS8-like 3 273 cytoplasm protein binding p.N274fs*33(2) breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1) 32 all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269) Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141) CCTGGTCCTTGTTTTTTTTCCC 0.545 8 722 --- --- --- --- TRIM33 51592 broad.mit.edu 37 1 114968116 114968118 + In_Frame_Del DEL TGT TGT - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr1:114968116_114968118delTGT ENST00000358465.2 - 9 1731_1733 c.1648_1650delACA c.(1648-1650)del p.T550del TRIM33_ENST00000450349.2_In_Frame_Del_p.T158del|TRIM33_ENST00000369543.2_In_Frame_Del_p.T550del NM_015906.3 NP_056990.3 Q9UPN9 TRI33_HUMAN tripartite motif containing 33 550 Poly-Thr. negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent nucleus co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 48 all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184) all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GATGCTGTTGTGTTGTTGTTGTT 0.429 T RET papillary thyroid 12 1246 --- --- --- --- SYCP1 6847 broad.mit.edu 37 1 115537600 115537601 + Frame_Shift_Ins INS - - A TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr1:115537600_115537601insA ENST00000369522.3 + 32 3131_3132 c.2891_2892insA c.(2890-2892)aaafs p.K964fs SYCP1_ENST00000369518.1_Frame_Shift_Ins_p.K964fs|SYCP1_ENST00000477590.1_3'UTR NM_003176.2 NP_003167.2 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 964 Arg/Lys-rich (basic). cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding RGS22/SYCP1(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) AAAATGGATAGAAAAAAAAAAC 0.356 35 291 --- --- --- --- RP11-782C8.1 0 broad.mit.edu 37 1 143217265 143217266 + RNA INS - - A TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr1:143217265_143217266insA ENST00000438000.1 + 0 59 GTTAGTAAAGCAAAAAAAAAAC 0.282 9 46 --- --- --- --- SRGAP2B 0 broad.mit.edu 37 1 144043905 144043906 + RNA INS - - G TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr1:144043905_144043906insG ENST00000467933.1 + 0 1108 tcgctcacgctggagctgtaga 0.535 15 91 --- --- --- --- HFE2 148738 broad.mit.edu 37 1 145415369 145415371 + In_Frame_Del DEL GAG GAG - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr1:145415369_145415371delGAG ENST00000336751.5 + 3 426_428 c.188_190delGAG c.(187-192)cga>c p.RG63del HFE2_ENST00000475797.1_Intron|HFE2_ENST00000497365.1_Intron|HFE2_ENST00000357836.5_5'UTR NM_213653.3 NP_998818.1 Q6ZVN8 RGMC_HUMAN hemochromatosis type 2 (juvenile) 63 axon guidance anchored to membrane central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1) 14 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GGAGCACTTCGAGGAGGAGGAGG 0.626 7 436 --- --- --- --- NOS1AP 9722 broad.mit.edu 37 1 162326888 162326890 + In_Frame_Del DEL CAG CAG - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 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 16 412 --- --- --- --- TMCO1 54499 broad.mit.edu 37 1 165712550 165712551 + Splice_Site INS - - A TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr1:165712550_165712551insA ENST00000367881.5 - 6 752 c.e6-2 TMCO1_ENST00000464650.1_Splice_Site|TMCO1_ENST00000392129.6_Splice_Site|TMCO1_ENST00000580248.1_Splice_Site Q9UM00 TMCO1_HUMAN transmembrane and coiled-coil domains 1 endoplasmic reticulum membrane|Golgi membrane|integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5) 9 all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155) CCATCAAATCTAAAAGAAAAAA 0.381 12 318 --- --- --- --- GPR25 2848 broad.mit.edu 37 1 200842776 200842778 + In_Frame_Del DEL TGC TGC - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr1:200842776_200842778delTGC ENST00000304244.2 + 1 694_696 c.611_613delTGC c.(610-615)ttg>t p.LL208del NM_005298.2 NP_005289.2 O00155 GPR25_HUMAN G protein-coupled receptor 25 208 Poly-Leu. integral to plasma membrane large_intestine(1)|lung(2)|ovary(1)|skin(1) 5 GGCCTCAGCTTGCTGCTGCTGCT 0.724 10 194 --- --- --- --- ASXL2 55252 broad.mit.edu 37 2 26022304 26022306 + In_Frame_Del DEL CTG CTG - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 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_ENST00000497092.1_5'UTR|ASXL2_ENST00000272341.4_5'UTR Q76L83 ASXL2_HUMAN additional sex combs like 2 (Drosophila) 117 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCCACCATCACTGCTGCTGCTGC 0.463 10 688 --- --- --- --- DHX57 90957 broad.mit.edu 37 2 39095411 39095413 + In_Frame_Del DEL CCA CCA - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr2:39095411_39095413delCCA ENST00000295373.6 - 2 261_263 c.135_137delTGG c.(133-138)gga>gg p.GG47del NM_198963.1 NP_945314.1 Q6P158 DHX57_HUMAN DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 47 Gly-rich. ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_hematologic(82;0.248) Gccgccacctccaccaccaccac 0.532 7 532 --- --- --- --- ITPRIPL1 150771 broad.mit.edu 37 2 96992793 96992795 + In_Frame_Del DEL GAG GAG - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr2:96992793_96992795delGAG ENST00000361124.4 + 1 859_861 c.448_450delGAG c.(448-450)del p.E155del ITPRIPL1_ENST00000542887.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000536814.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000439118.2_In_Frame_Del_p.E147del NM_178495.5 NP_848590.3 Q6GPH6 IPIL1_HUMAN inositol 1,4,5-trisphosphate receptor interacting protein-like 1 147 integral to membrane breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 TTCCAGCAGTGAGGAGGAGGAGG 0.532 14 383 --- --- --- --- DLX2 1746 broad.mit.edu 37 2 172967028 172967030 + In_Frame_Del DEL CCG CCG - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr2:172967028_172967030delCCG ENST00000234198.4 - 1 598_600 c.237_239delCGG c.(235-240)ggg>gg p.GG79del DLX2_ENST00000466293.2_In_Frame_Del_p.GG79del NM_004405.3 NP_004396.1 Q07687 DLX2_HUMAN distal-less homeobox 2 79 Poly-Gly. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(117;0.216) GGGCGAgcccccgccgccgccgc 0.680 9 125 --- --- --- --- ALS2CR11 151254 broad.mit.edu 37 2 202352352 202352352 + Frame_Shift_Del DEL T T - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr2:202352352delT ENST00000439140.1 - 16 5490 c.5446delA c.(5446-5448)ttfs p.I1816fs ALS2CR11_ENST00000286195.3_Frame_Shift_Del_p.I619fs|ALS2CR11_ENST00000439802.1_3'UTR NM_001168221.1 NP_001161693.1 Q53TS8 AL2SA_HUMAN amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 619 NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3) 33 CCTCTTTTAATTTTTTTTGGC 0.323 7 422 --- --- --- --- EFHD1 80303 broad.mit.edu 37 2 233546363 233546365 + In_Frame_Del DEL GGA GGA - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr2:233546363_233546365delGGA ENST00000264059.3 + 4 1131_1133 c.654_656delGGA c.(652-657)cgg>cg p.RE218del EFHD1_ENST00000409708.1_In_Frame_Del_p.RE106del|EFHD1_ENST00000410095.1_In_Frame_Del_p.RE106del|EFHD1_ENST00000409613.1_In_Frame_Del_p.RE122del NM_025202.3 NP_079478.1 Q9BUP0 EFHD1_HUMAN EF-hand domain family, member D1 218 calcium ion binding|protein binding NS(1)|breast(1)|large_intestine(2)|lung(3) 7 all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025) Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101) AGCGGAAGCGGGAGGAGGAGGAG 0.547 9 527 --- --- --- --- ANO10 55129 broad.mit.edu 37 3 43647213 43647213 + Frame_Shift_Del DEL T T - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr3:43647213delT ENST00000292246.3 - 2 302 c.132delA c.(130-132)aafs p.K44fs ANO10_ENST00000350459.4_Frame_Shift_Del_p.K44fs|ANO10_ENST00000451430.2_Frame_Shift_Del_p.K44fs|ANO10_ENST00000414522.2_Frame_Shift_Del_p.K44fs|ANO10_ENST00000396091.3_Frame_Shift_Del_p.K44fs NM_018075.3 NP_060545.3 Q9NW15 ANO10_HUMAN anoctamin 10 44 cell death chloride channel complex chloride channel activity NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3) 29 CACCTCCATCTTTTTTTTTAG 0.408 8 368 --- --- --- --- CCR3 1232 broad.mit.edu 37 3 46306948 46306948 + Frame_Shift_Del DEL T T - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr3:46306948delT ENST00000357422.2 + 4 842 c.299delT c.(298-300)gtfs p.V100fs CCR3_ENST00000395940.2_Frame_Shift_Del_p.V100fs|CCR3_ENST00000545097.1_Frame_Shift_Del_p.V121fs|CCR3_ENST00000395942.2_Frame_Shift_Del_p.V100fs|CCR3_ENST00000541018.1_Frame_Shift_Del_p.V100fs P51677 CCR3_HUMAN chemokine (C-C motif) receptor 3 100 cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis integral to plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216) CATAACTGGGTTTTTGGCCAT 0.488 11 1201 --- --- --- --- LINC00698 0 broad.mit.edu 37 3 63083094 63083096 + RNA DEL CTG CTG - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr3:63083094_63083096delCTG ENST00000468072.1 + 0 125 NR_027104.1 TCCGAGCCGTCTGCTGCTGCTGC 0.562 8 655 --- --- --- --- LINC00971 0 broad.mit.edu 37 3 84741480 84741480 + RNA DEL A A - rs140144338 TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr3:84741480delA ENST00000484892.1 - 0 2354 NR_033860.1 CCTGTCCCAGAAAAAAAAAAA 0.388 8 12 --- --- --- --- FILIP1L 11259 broad.mit.edu 37 3 99568272 99568273 + Frame_Shift_Ins INS - - T TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr3:99568272_99568273insT ENST00000331335.5 - 5 2717_2718 c.2247_2248insA c.(2245-2250)aataaafs p.NK749fs FILIP1L_ENST00000487087.1_Frame_Shift_Ins_p.NK325fs|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000383694.2_Frame_Shift_Ins_p.NK509fs|FILIP1L_ENST00000354552.3_Frame_Shift_Ins_p.NK749fs|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000471562.1_Frame_Shift_Ins_p.NK509fs|CMSS1_ENST00000496116.1_Intron NM_001042459.1 NP_001035924.1 Q4L180 FIL1L_HUMAN filamin A interacting protein 1-like 749 cytoplasm|membrane|myosin complex|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 35 TGTTGATTTAGTTTTTTTTGCA 0.406 9 676 --- --- --- --- TRMT10C 54931 broad.mit.edu 37 3 101284009 101284009 + Frame_Shift_Del DEL A A - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr3:101284009delA ENST00000309922.6 + 2 538 c.384delA c.(382-384)gcfs p.A128fs NM_017819.2 NP_060289.2 tRNA methyltransferase 10 homolog C (S. cerevisiae) CTAACACAGCaaaaaaaaaat 0.343 11 258 --- --- --- --- PARP14 54625 broad.mit.edu 37 3 122433232 122433232 + Frame_Shift_Del DEL A A - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 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 8 238 --- --- --- --- TMCC1 23023 broad.mit.edu 37 3 129370576 129370578 + In_Frame_Del DEL CTG CTG - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr3:129370576_129370578delCTG ENST00000393238.3 - 6 2048_2050 c.1708_1710delCAG c.(1708-1710)del p.Q570del TMCC1_ENST00000329333.5_In_Frame_Del_p.Q391del|TMCC1_ENST00000426664.2_In_Frame_Del_p.Q456del|TMCC1_ENST00000432054.2_In_Frame_Del_p.Q246del NM_001017395.3 NP_001017395.2 O94876 TMCC1_HUMAN transmembrane and coiled-coil domain family 1 570 integral to membrane PLXND1/TMCC1(4) breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1) 25 GCTGCACCACCTGCTGCTGCTGC 0.581 8 472 --- --- --- --- TFDP2 7029 broad.mit.edu 37 3 141692946 141692947 + Frame_Shift_Ins INS - - T TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr3:141692946_141692947insT ENST00000499676.2 - 8 1097_1098 c.426_427insA c.(424-429)aaaaatfs p.N143fs TFDP2_ENST00000467072.1_Frame_Shift_Ins_p.N143fs|TFDP2_ENST00000310282.6_Frame_Shift_Ins_p.N143fs|TFDP2_ENST00000495310.1_Frame_Shift_Ins_p.N106fs|TFDP2_ENST00000486111.1_Frame_Shift_Ins_p.N143fs|TFDP2_ENST00000477292.1_Frame_Shift_Ins_p.N67fs|TFDP2_ENST00000397991.4_Frame_Shift_Ins_p.N175fs|TFDP2_ENST00000317104.7_Frame_Shift_Ins_p.N127fs|TFDP2_ENST00000489671.1_Frame_Shift_Ins_p.N203fs|TFDP2_ENST00000479040.1_Frame_Shift_Ins_p.N142fs NM_001178139.1 NP_001171610.1 Q14188 TFDP2_HUMAN transcription factor Dp-2 (E2F dimerization partner 2) 203 cell cycle transcription factor complex DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription factor binding kidney(1)|upper_aerodigestive_tract(2) 3 CACTTGATTTCTTTTTTTTCCT 0.342 7 467 --- --- --- --- EIF4G1 1981 broad.mit.edu 37 3 184039744 184039746 + In_Frame_Del DEL GAA GAA - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr3:184039744_184039746delGAA ENST00000342981.4 + 9 1786_1788 c.1372_1374delGAA c.(1372-1374)del p.E465del EIF4G1_ENST00000411531.1_In_Frame_Del_p.E425del|EIF4G1_ENST00000435046.2_In_Frame_Del_p.E269del|EIF4G1_ENST00000414031.1_In_Frame_Del_p.E425del|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000392537.2_In_Frame_Del_p.E378del|EIF4G1_ENST00000427845.1_In_Frame_Del_p.E378del|EIF4G1_ENST00000382330.3_In_Frame_Del_p.E472del|EIF4G1_ENST00000319274.6_In_Frame_Del_p.E465del|EIF4G1_ENST00000352767.3_In_Frame_Del_p.E472del|EIF4G1_ENST00000346169.2_In_Frame_Del_p.E465del|EIF4G1_ENST00000434061.2_In_Frame_Del_p.E269del|EIF4G1_ENST00000350481.5_In_Frame_Del_p.E301del|EIF4G1_ENST00000424196.1_In_Frame_Del_p.E472del|EIF4G1_ENST00000441154.1_In_Frame_Del_p.E301del NM_182917.4 NP_886553.3 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 gamma, 1 465 Poly-Glu. insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 75 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GGAGGAAATGgaagaagaagaag 0.562 7 539 --- --- --- --- TNK2 10188 broad.mit.edu 37 3 195595228 195595229 + Frame_Shift_Ins INS - - G TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr3:195595228_195595229insG ENST00000333602.6 - 12 2512_2513 c.1895_1896insC c.(1894-1896)cccfs p.P632fs TNK2_ENST00000392400.1_Frame_Shift_Ins_p.P632fs|TNK2_ENST00000428187.1_Frame_Shift_Ins_p.P664fs|TNK2_ENST00000381916.2_Frame_Shift_Ins_p.P710fs NM_005781.4 NP_005772.3 Q07912 ACK1_HUMAN tyrosine kinase, non-receptor, 2 632 Pro-rich.|Required for interaction with NEDD4 (By similarity).|Required for interaction with SRC. Missing (in Ref. 4; AAH08884). positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction adherens junction|cytoplasmic vesicle membrane|endosome|nucleus ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1) 29 all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;0.000757) Adenosine triphosphate(DB00171) CATAGGCGGGCGGGGGGGGCAG 0.728 13 494 --- --- --- --- TMEM175 84286 broad.mit.edu 37 4 946206 946207 + Frame_Shift_Del DEL TG TG - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr4:946206_946207delTG ENST00000264771.4 + 7 615_616 c.430_431delTG c.(430-432)tfs p.C144fs TMEM175_ENST00000504180.1_3'UTR|TMEM175_ENST00000508204.1_Frame_Shift_Del_p.C62fs|TMEM175_ENST00000515740.1_Frame_Shift_Del_p.C28fs NM_032326.2 NP_115702.1 Q9BSA9 TM175_HUMAN transmembrane protein 175 144 integral to membrane NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3) 14 OV - Ovarian serous cystadenocarcinoma(23;0.0158) CTTCTTGTTCTGTGTGTGTGTG 0.515 8 1115 --- --- --- --- HGFAC 3083 broad.mit.edu 37 4 3443798 3443800 + In_Frame_Del DEL CTG CTG - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 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 12 230 --- --- --- --- PROM1 8842 broad.mit.edu 37 4 15995680 15995680 + Frame_Shift_Del DEL T T - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr4:15995680delT ENST00000505450.1 - 15 2282 c.1670delA c.(1669-1671)atfs p.N557fs PROM1_ENST00000539194.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000543373.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000540805.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000510224.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000447510.2_Frame_Shift_Del_p.N566fs|PROM1_ENST00000508167.1_Frame_Shift_Del_p.N557fs NM_001145848.1 NP_001139320.1 O43490 PROM1_HUMAN prominin 1 566 camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane beta-actinin binding|cadherin binding breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2) 35 AGTGCCTCTATTTTTTTTGCA 0.428 9 451 --- --- --- --- CDKL2 8999 broad.mit.edu 37 4 76539579 76539580 + Frame_Shift_Ins INS - - T TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr4:76539579_76539580insT ENST00000429927.2 - 3 925_926 c.222_223insA c.(220-225)aagatgfs p.M75fs CDKL2_ENST00000307465.4_Frame_Shift_Ins_p.M75fs NM_003948.3 NP_003939.1 Q92772 CDKL2_HUMAN cyclin-dependent kinase-like 2 (CDC2-related kinase) 75 Protein kinase. sex differentiation|signal transduction cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2) 22 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) AGGTACCATCGTTTTTTTTTCT 0.322 10 309 --- --- --- --- PRDM8 56978 broad.mit.edu 37 4 81123250 81123252 + In_Frame_Del DEL CAG CAG - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr4:81123250_81123252delCAG ENST00000339711.4 + 10 1865_1867 c.634_636delCAG c.(634-636)del p.Q217del PRDM8_ENST00000415738.2_In_Frame_Del_p.Q217del|PRDM8_ENST00000504452.1_In_Frame_Del_p.Q217del NM_020226.3 NP_064611.3 Q9NQV8 PRDM8_HUMAN PR domain containing 8 217 Gly-rich.|Poly-Gln. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2) 10 tggcaaagaccagcagcagcagc 0.655 OREG0016246 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 376 --- --- --- --- RRH 10692 broad.mit.edu 37 4 110756541 110756541 + Frame_Shift_Del DEL T T - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr4:110756541delT ENST00000317735.4 + 3 351 c.317delT c.(316-318)atfs p.I106fs NM_006583.2 NP_006574.1 O14718 OPSX_HUMAN retinal pigment epithelium-derived rhodopsin homolog 106 phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1) 12 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00109) GGATTGAATATTTTTTTTGGA 0.393 7 323 --- --- --- --- PCDH10 57575 broad.mit.edu 37 4 134073569 134073571 + In_Frame_Del DEL CTG CTG - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr4:134073569_134073571delCTG ENST00000264360.4 + 1 3100_3102 c.2274_2276delCTG c.(2272-2277)ctc>ct p.LC758del NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 758 Cys-rich. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) ATTGCTGCCTCTGCTGCTGCTGC 0.581 7 335 --- --- --- --- BRD9 65980 broad.mit.edu 37 5 889776 889777 + Frame_Shift_Ins INS - - A TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr5:889776_889777insA ENST00000323510.4 - 1 37_38 c.38_39insT c.(37-39)tctfs p.S13fs BRD9_ENST00000483173.1_Intron|BRD9_ENST00000388890.4_Frame_Shift_Ins_p.S13fs|BRD9_ENST00000467963.1_Intron|BRD9_ENST00000435709.2_Frame_Shift_Ins_p.S13fs Q9H8M2 BRD9_HUMAN bromodomain containing 9 0 nucleic acid binding breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3) 29 Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185) ACAATTTAAGGAAAAAAAAATT 0.446 12 429 --- --- --- --- PAPD7 11044 broad.mit.edu 37 5 6755013 6755014 + Frame_Shift_Del DEL AC AC - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr5:6755013_6755014delAC ENST00000230859.6 + 13 1713_1714 c.1584_1585delAC c.(1582-1587)aaacfs p.KH528fs NM_001171805.1|NM_001171806.1|NM_006999.4 NP_001165276.1|NP_001165277.1|NP_008930.1 Q5XG87 PAPD7_HUMAN PAP associated domain containing 7 528 cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion nucleus DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 GGAGGAAAAAACACACACACAC 0.653 9 259 --- --- --- --- FGF10 2255 broad.mit.edu 37 5 44388715 44388717 + In_Frame_Del DEL AGC AGC - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr5:44388715_44388717delAGC ENST00000264664.4 - 1 182_184 c.68_70delGCT c.(67-72)ttt>t p.CF23del NM_004465.1 NP_004456.1 O15520 FGF10_HUMAN fibroblast growth factor 10 23 actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation cell surface|extracellular space|nucleus|plasma membrane chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1) 13 Lung NSC(6;1.12e-06) AGCAACAAAAAGCAGCAGCAGCA 0.537 7 367 --- --- --- --- MCC 4163 broad.mit.edu 37 5 112824033 112824034 + In_Frame_Ins INS - - GCTGCC TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr5:112824033_112824034insGCTGCC ENST00000408903.3 - 1 493_494 c.78_79insGGCAGC c.(76-81)aggcag>agGGCAGCgcag p.26_27RQ>RAAQ NM_001085377.1 NP_001078846.1 P23508 CRCM_HUMAN mutated in colorectal cancers 554 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane protein binding|receptor activity p.S26_S27insGS(1) endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) Tcgctgctgctgctgctgctgc 0.743 7 130 --- --- --- --- SLC22A4 6583 broad.mit.edu 37 5 131676327 131676327 + Frame_Shift_Del DEL T T - rs72552721 TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr5:131676327delT ENST00000200652.3 + 9 1688 c.1514delT c.(1513-1515)ctfs p.L505fs AC034220.3_ENST00000437091.1_RNA|AC034220.3_ENST00000417795.1_RNA NM_003059.2 NP_003050.2 Q9H015 S22A4_HUMAN solute carrier family 22 (organic cation/zwitterion transporter), member 4 505 body fluid secretion|sodium ion transport apical plasma membrane|integral to plasma membrane|mitochondrion ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity p.E509fs*1(1) endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1) 16 all_cancers(142;0.0752)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Carnitine(DB00583) ATCCTCACCCTTTTTTTCCCT 0.418 10 1048 --- --- --- --- EGR1 1958 broad.mit.edu 37 5 137801633 137801635 + In_Frame_Del DEL CAG CAG - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr5:137801633_137801635delCAG ENST00000239938.4 + 1 455_457 c.183_185delCAG c.(181-186)aac>aa p.NS61del NM_001964.2 NP_001955.1 P18146 EGR1_HUMAN early growth response 1 61 Gly/Ser-rich. cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytoplasm|nucleus histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) gcggcagcaacagcagcagcagc 0.700 11 305 --- --- --- --- ANKHD1 54882 broad.mit.edu 37 5 139905676 139905676 + Frame_Shift_Del DEL A A - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr5:139905676delA ENST00000297183.6 + 26 4712 c.4588delA c.(4588-4590)aafs p.K1531fs ANKHD1_ENST00000360839.2_Frame_Shift_Del_p.K1531fs|ANKHD1-EIF4EBP3_ENST00000532219.1_Frame_Shift_Del_p.K1531fs NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTGTTTGGGAAAAAAAGGGC 0.423 8 710 --- --- --- --- PPARGC1B 133522 broad.mit.edu 37 5 149216400 149216402 + In_Frame_Del DEL CAG CAG - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr5:149216400_149216402delCAG ENST00000309241.5 + 8 2414_2416 c.2382_2384delCAG c.(2380-2385)gac>ga p.DS794del PPARGC1B_ENST00000394320.3_In_Frame_Del_p.DS794del|PPARGC1B_ENST00000403750.1_In_Frame_Del_p.DS730del|PPARGC1B_ENST00000360453.4_In_Frame_Del_p.DS755del NM_133263.3 NP_573570.3 Q86YN6 PRGC2_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 beta 794 Glu-rich. estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter mediator complex AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity p.S795N(1) NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) TCTTTGAAGACAGCAGCAGCAGC 0.601 11 835 --- --- --- --- PPARGC1B 133522 broad.mit.edu 37 5 149216457 149216459 + In_Frame_Del DEL GGA GGA - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr5:149216457_149216459delGGA ENST00000309241.5 + 8 2471_2473 c.2439_2441delGGA c.(2437-2442)ggg>gg p.GE813del PPARGC1B_ENST00000394320.3_In_Frame_Del_p.GE813del|PPARGC1B_ENST00000403750.1_In_Frame_Del_p.GE749del|PPARGC1B_ENST00000360453.4_In_Frame_Del_p.GE774del NM_133263.3 NP_573570.3 Q86YN6 PRGC2_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 beta 813 Glu-rich. estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter mediator complex AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) aggaagaaggggaggaggaggag 0.606 9 555 --- --- --- --- UNC5A 90249 broad.mit.edu 37 5 176301302 176301304 + In_Frame_Del DEL CAC CAC - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr5:176301302_176301304delCAC ENST00000329542.4 + 8 1387_1389 c.1113_1115delCAC c.(1111-1116)agc>ag p.ST371del UNC5A_ENST00000261961.3_In_Frame_Del_p.ST331del NM_133369.2 NP_588610.2 Q6ZN44 UNC5A_HUMAN unc-5 homolog A (C. elegans) 371 apoptosis|axon guidance|regulation of apoptosis integral to membrane|plasma membrane endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CGGACCTCAGCACCACCACCACC 0.645 11 734 --- --- --- --- DEK 7913 broad.mit.edu 37 6 18264079 18264081 + In_Frame_Del DEL TCC TCC - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr6:18264079_18264081delTCC ENST00000397239.3 - 2 585_587 c.138_140delGGA c.(136-141)gaa>ga p.EE46del DEK_ENST00000244776.7_In_Frame_Del_p.EE46del NM_003472.3 NP_003463.1 P35659 DEK_HUMAN DEK oncogene 46 Asp/Glu-rich (highly acidic). chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication nucleus DNA binding|histone binding endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 7 Ovarian(93;0.00769)|Breast(50;0.0495) all_hematologic(90;0.053) OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332) CCCACCTTTTtcctcctcctcct 0.532 T NUP214 AML 10 417 --- --- --- --- BTN2A3P 0 broad.mit.edu 37 6 26422388 26422390 + RNA DEL CCT CCT - rs113134648 TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr6:26422388_26422390delCCT ENST00000466808.2 + 0 42_44 GGCCAGCCTCCCTCCTCCTCCTC 0.586 14 717 --- --- --- --- ZNF184 7738 broad.mit.edu 37 6 27420810 27420810 + Frame_Shift_Del DEL T T - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr6:27420810delT ENST00000211936.6 - 6 812 c.528delA c.(526-528)aafs p.K176fs ZNF184_ENST00000377419.1_Frame_Shift_Del_p.K176fs NM_007149.2 NP_009080.2 Q99676 ZN184_HUMAN zinc finger protein 184 176 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 48 TTACAGGGCCTTTTTCCCAAC 0.408 8 1231 --- --- --- --- PPP1R10 5514 broad.mit.edu 37 6 30570264 30570266 + In_Frame_Del DEL GGA GGA - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr6:30570264_30570266delGGA ENST00000376511.2 - 19 2712_2714 c.2160_2162delTCC c.(2158-2163)cca>cc p.PP720del NM_002714.3 NP_002705.2 Q96QC0 PP1RA_HUMAN protein phosphatase 1, regulatory subunit 10 720 Gly-rich. protein import into nucleus|transcription, DNA-dependent PTW/PP1 phosphatase complex DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1) 25 GCCTCGGAATggaggaggaggag 0.670 8 363 --- --- --- --- PPP1R18 170954 broad.mit.edu 37 6 30653494 30653496 + In_Frame_Del DEL TGC TGC - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr6:30653494_30653496delTGC ENST00000274853.3 - 1 2176_2178 c.300_302delGCA c.(298-303)caa>ca p.QQ102del PPP1R18_ENST00000488324.1_Intron|PPP1R18_ENST00000399199.3_In_Frame_Del_p.QQ102del 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 14 453 --- --- --- --- HLA-DRB6 0 broad.mit.edu 37 6 32523362 32523363 + RNA INS - - GATA rs142676080 by1000genomes TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr6:32523362_32523363insGATA ENST00000411500.1 - 0 458 NR_001298.1 AAAGCAATGTGGATAAAGGGAC 0.431 13 34 --- --- --- --- UHRF1BP1 54887 broad.mit.edu 37 6 34804004 34804006 + In_Frame_Del DEL CAG CAG - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr6:34804004_34804006delCAG ENST00000192788.5 + 8 1083_1085 c.912_914delCAG c.(910-915)aac>aa p.NS304del UHRF1BP1_ENST00000452449.2_In_Frame_Del_p.NS304del NM_017754.3 NP_060224.3 Q6BDS2 URFB1_HUMAN UHRF1 binding protein 1 304 breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 54 GCAACAGCAACAGCAGCAGCAGC 0.552 7 1247 --- --- --- --- MDFI 4188 broad.mit.edu 37 6 41621169 41621171 + In_Frame_Del DEL CTG CTG - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr6:41621169_41621171delCTG ENST00000373050.4 + 4 601_603 c.414_416delCTG c.(412-417)ctc>ct p.LC138del Q99750 MDFI_HUMAN MyoD family inhibitor 199 cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway cytoplasm|nucleus endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1) 8 Ovarian(28;0.0327)|Colorectal(47;0.121) Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138) ACTCGTGCCTCTGCTGCTGCTGC 0.655 12 614 --- --- --- --- ICK 22858 broad.mit.edu 37 6 52883129 52883129 + Splice_Site DEL T T - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr6:52883129delT ENST00000356971.3 - 8 1151 c.663_splice c.e8+1 p.K221_splice ICK_ENST00000350082.5_Splice_Site_p.K221_splice NM_016513.4 NP_057597.2 Q9UPZ9 ICK_HUMAN intestinal cell (MAK-like) kinase 221 Protein kinase. intracellular protein kinase cascade|multicellular organismal development cytosol|nucleus ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1) 31 Lung NSC(77;0.103) TATCATTACCTTTTTTGGTGT 0.502 8 1096 --- --- --- --- EPB41L2 2037 broad.mit.edu 37 6 131191073 131191075 + In_Frame_Del DEL CTG CTG - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr6:131191073_131191075delCTG ENST00000337057.3 - 15 2416_2418 c.2235_2237delCAG c.(2233-2238)agt>ag p.SS745del EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000368128.2_In_Frame_Del_p.SS745del|EPB41L2_ENST00000524581.1_In_Frame_Del_p.SS123del|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000530481.1_In_Frame_Del_p.SS675del|EPB41L2_ENST00000527659.1_In_Frame_Del_p.SS675del|EPB41L2_ENST00000529208.1_In_Frame_Del_p.SS675del|EPB41L2_ENST00000527411.1_In_Frame_Del_p.SS675del|EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000525271.1_Intron NM_001431.3 NP_001422.1 O43491 E41L2_HUMAN erythrocyte membrane protein band 4.1-like 2 745 cortical actin cytoskeleton organization extrinsic to membrane|plasma membrane|spectrin actin binding|structural molecule activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2) 44 Breast(56;0.0639) OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355) CTCACTCTCACTGCTGCTGCTGC 0.562 7 533 --- --- --- --- SHPRH 257218 broad.mit.edu 37 6 146264834 146264836 + In_Frame_Del DEL ATC ATC - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr6:146264834_146264836delATC ENST00000367503.3 - 9 2079_2081 c.1681_1683delGAT c.(1681-1683)del p.D561del SHPRH_ENST00000275233.7_In_Frame_Del_p.D561del|SHPRH_ENST00000367505.2_In_Frame_Del_p.D561del|SHPRH_ENST00000438092.2_In_Frame_Del_p.D561del NM_001042683.2 NP_001036148.2 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase 561 DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1) 79 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) AATAGTAAGGATCATCATCATCA 0.360 8 518 --- --- --- --- GRM1 2911 broad.mit.edu 37 6 146755723 146755725 + In_Frame_Del DEL GAG GAG - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr6:146755723_146755725delGAG ENST00000361719.2 + 9 3846_3848 c.3376_3378delGAG c.(3376-3378)del p.E1129del GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000282753.1_In_Frame_Del_p.E1129del|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000492807.2_3'UTR NM_001278064.1 NP_001264993.1 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 1129 Asp/Glu-rich (acidic). 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) CGAACTGGAAGAGGAGGAGGAGG 0.640 7 579 --- --- --- --- TMEM184A 202915 broad.mit.edu 37 7 1586662 1586663 + In_Frame_Ins INS - - GCC rs3837151 by1000genomes TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr7:1586662_1586663insGCC ENST00000297477.5 - 9 1483_1484 c.1167_1168insGGC c.(1165-1170)ccgcgg>ccGGCgcgg p.389_390PR>PAR NM_001097620.1 NP_001091089.1 Q6ZMB5 T184A_HUMAN transmembrane protein 184A 389 integral to membrane endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 12 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15) GAGCCGCCGCTGGGGTGGGTGC 0.703 8 193 --- --- --- --- ICA1 3382 broad.mit.edu 37 7 8198251 8198251 + Frame_Shift_Del DEL T T - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr7:8198251delT ENST00000402384.3 - 7 877 c.611delA c.(610-612)acfs p.N204fs ICA1_ENST00000396675.3_Frame_Shift_Del_p.N204fs|ICA1_ENST00000422063.2_Frame_Shift_Del_p.N204fs|ICA1_ENST00000265577.7_Frame_Shift_Del_p.N203fs|ICA1_ENST00000407906.1_Frame_Shift_Del_p.N204fs|ICA1_ENST00000406470.2_Frame_Shift_Del_p.N204fs|ICA1_ENST00000401396.1_Frame_Shift_Del_p.N192fs Q05084 ICA69_HUMAN islet cell autoantigen 1, 69kDa 204 AH. neurotransmitter transport cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane p.N204fs*5(3) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1) 23 Ovarian(82;0.0612) UCEC - Uterine corpus endometrioid carcinoma (126;0.246) TTTGTCAAAGTTTTTTTTTGC 0.378 7 277 --- --- --- --- BBS9 27241 broad.mit.edu 37 7 33312723 33312723 + Frame_Shift_Del DEL T T - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr7:33312723delT ENST00000242067.6 + 8 1323 c.802delT c.(802-804)ttfs p.F269fs BBS9_ENST00000355070.2_Frame_Shift_Del_p.F269fs|BBS9_ENST00000354265.4_Frame_Shift_Del_p.F269fs|BBS9_ENST00000350941.3_Frame_Shift_Del_p.F269fs|BBS9_ENST00000425508.2_Frame_Shift_Del_p.F224fs|BBS9_ENST00000396127.2_Frame_Shift_Del_p.F269fs NM_198428.2 NP_940820.1 Q3SYG4 PTHB1_HUMAN Bardet-Biedl syndrome 9 269 fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding BBS9/PKD1L1(2) NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(11;0.0894) TGAGAGAAACTTTTTTTGCCT 0.393 Bardet-Biedl syndrome 9 797 --- --- --- --- TRGC2 0 broad.mit.edu 37 7 38284886 38284887 + RNA DEL GT GT - rs73692143 TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr7:38284886_38284887delGT ENST00000436911.2 - 0 330 ATTTGTCAAGgtgtgtgtgtgt 0.391 18 448 --- --- --- --- POU6F2 11281 broad.mit.edu 37 7 39379288 39379290 + In_Frame_Del DEL CAG CAG - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr7:39379288_39379290delCAG ENST00000518318.2 + 5 601_603 c.559_561delCAG c.(559-561)del p.Q196del POU6F2_ENST00000559001.1_In_Frame_Del_p.Q188del|POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000403058.1_In_Frame_Del_p.Q196del P78424 PO6F2_HUMAN POU class 6 homeobox 2 196 Gln-rich. Q -> QQ (in Ref. 1; AAB49727/AAB49728). central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 gctccagctccagcagcagcagc 0.616 12 118 --- --- --- --- PURB 5814 broad.mit.edu 37 7 44924131 44924131 + Frame_Shift_Del DEL A A - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr7:44924131delA ENST00000395699.2 - 1 829 c.817delT c.(817-819)gcfs p.C273fs NM_033224.3 NP_150093.1 Q96QR8 PURB_HUMAN purine-rich element binding protein B 273 regulation of myeloid cell differentiation DNA replication factor A complex mRNA binding|single-stranded DNA binding|transcription factor binding large_intestine(2)|lung(3)|prostate(1)|skin(1) 7 GCATACCGGCAAAAGGCGCCT 0.582 7 905 --- --- --- --- GTF2IRD1P1 0 broad.mit.edu 37 7 66304731 66304731 + RNA DEL T T - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr7:66304731delT ENST00000457166.1 - 0 189 NR_003934.1 TTTCTTTCCCttttttttttt 0.512 9 37 --- --- --- --- AUTS2 26053 broad.mit.edu 37 7 70255577 70255579 + In_Frame_Del DEL CCA CCA - rs35604576 TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr7:70255577_70255579delCCA ENST00000342771.4 + 19 3696_3698 c.3375_3377delCCA c.(3373-3378)agc>ag p.SH1125del AUTS2_ENST00000406775.2_In_Frame_Del_p.SH1101del NM_015570.2 NP_056385.1 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 1125 His-rich. breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 50 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) ACGACTACAGccaccaccaccac 0.680 7 101 --- --- --- --- POM121 9883 broad.mit.edu 37 7 72413723 72413724 + In_Frame_Ins INS - - CTC rs67569765 byFrequency TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr7:72413723_72413724insCTC ENST00000395270.1 + 14 3437_3438 c.2396_2397insCTC c.(2395-2397)ttt>tCTCtt p.799_799F>SL POM121_ENST00000434423.2_In_Frame_Ins_p.1064_1064F>SL|POM121_ENST00000446813.1_In_Frame_Ins_p.799_799F>SL|POM121_ENST00000358357.3_In_Frame_Ins_p.799_799F>SL|POM121_ENST00000257622.4_In_Frame_Ins_p.799_799F>SL NM_001257190.1 NP_001244119.1 Q96HA1 P121A_HUMAN POM121 transmembrane nucleoporin 1064 Pore side (Potential).|Thr-rich. carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Lung NSC(55;0.163) ACTGCTGTCTTCTTCGGTGCAG 0.663 12 430 --- --- --- --- TMEM60 85025 broad.mit.edu 37 7 77423460 77423460 + Frame_Shift_Del DEL T T - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr7:77423460delT ENST00000257663.3 - 2 607 c.231delA c.(229-231)aafs p.K77fs NM_032936.3 NP_116325.1 Q9H2L4 TMM60_HUMAN transmembrane protein 60 77 integral to membrane endometrium(1)|large_intestine(1)|lung(2) 4 GGTACCAGGCTTTTTTTTTAA 0.408 16 632 --- --- --- --- AKAP9 10142 broad.mit.edu 37 7 91671392 91671393 + Frame_Shift_Del DEL AG AG - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr7:91671392_91671393delAG ENST00000359028.2 + 20 5211_5212 c.4986_4987delAG c.(4984-4989)tcagfs p.SE1662fs AKAP9_ENST00000356239.3_Frame_Shift_Del_p.SE1650fs|AKAP9_ENST00000358100.2_Frame_Shift_Del_p.SE1662fs Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 1662 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) ACCTGGTTTCAGAGAGAGAGAG 0.411 T BRAF papillary thyroid 8 279 --- --- --- --- ZAN 7455 broad.mit.edu 37 7 100385562 100385596 + RNA DEL GCTTCAGCTACCGCTTGCAAGGCCGCATGACCTAT GCTTCAGCTACCGCTTGCAAGGCCGCATGACCTAT - rs68029369 by1000genomes TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr7:100385562_100385596delGCTTCAGCTACCGCTTGCAAGGCCGCATGACCTAT ENST00000542585.1 + 0 7176_7210 ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) ACATTTGACGGCTTCAGCTACCGCTTGCAAGGCCGCATGACCTATGTTCTGATCA 0.583 25 177 --- --- --- --- FOXP2 93986 broad.mit.edu 37 7 114269971 114269973 + In_Frame_Del DEL CAA CAA - rs149757187 TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr7:114269971_114269973delCAA ENST00000393500.3 + 11 1103_1105 c.283_285delCAA c.(283-285)del p.Q116del AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000378237.3_In_Frame_Del_p.Q191del|FOXP2_ENST00000408937.3_In_Frame_Del_p.Q216del|FOXP2_ENST00000403559.4_In_Frame_Del_p.Q208del|FOXP2_ENST00000390668.3_In_Frame_Del_p.Q215del|FOXP2_ENST00000350908.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000393494.2_In_Frame_Del_p.Q191del|FOXP2_ENST00000393489.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000393498.2_In_Frame_Del_p.Q171del|FOXP2_ENST00000360232.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000393491.3_In_Frame_Del_p.Q99del O15409 FOXP2_HUMAN forkhead box P2 191 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 acagcagcagcaacaacaacaac 0.502 19 270 --- --- --- --- WASL 8976 broad.mit.edu 37 7 123332839 123332841 + In_Frame_Del DEL AGG AGG - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr7:123332839_123332841delAGG ENST00000223023.4 - 9 1239_1241 c.907_909delCCT c.(907-909)del p.P303del NM_003941.2 NP_003932.3 O00401 WASL_HUMAN Wiskott-Aldrich syndrome-like 303 Pro-rich. actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent actin cytoskeleton|cytosol|nucleolus|plasma membrane actin binding|small GTPase regulator activity p.P303A(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 TTCCCCTagcaggaggaggagga 0.616 7 408 --- --- --- --- EPHB6 0 broad.mit.edu 37 7 142562309 142562309 + Frame_Shift_Del DEL G G - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr7:142562309delG ENST00000392957.2 + 7 1538 c.751delG c.(751-753)ggfs p.G252fs EPHB6_ENST00000442129.1_Frame_Shift_Del_p.G252fs|EPHB6_ENST00000411471.2_Intron NM_004445.3 NP_004436.2 O15197 EPHB6_HUMAN EPH receptor B6 252 Cys-rich. extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) CAGTGGGGCTGGGGGGGCCTC 0.682 8 867 --- --- --- --- ESCO2 157570 broad.mit.edu 37 8 27634576 27634577 + Frame_Shift_Ins INS - - A rs80359854 TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr8:27634576_27634577insA ENST00000305188.8 + 3 989_990 c.751_752insA c.(751-753)aaafs p.K251fs ESCO2_ENST00000523910.1_3'UTR|ESCO2_ENST00000397418.2_5'UTR NM_001017420.2 NP_001017420.1 Q56NI9 ESCO2_HUMAN establishment of sister chromatid cohesion N-acetyltransferase 2 251 cell cycle|post-translational protein acetylation|regulation of DNA replication chromatin|nucleus acyltransferase activity|metal ion binding autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Ovarian(32;0.000953) UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132) GACTGTCAGTGAAAAAAAAACT 0.396 SC Phocomelia syndrome 11 314 --- --- --- --- UNC5D 137970 broad.mit.edu 37 8 35608248 35608248 + Frame_Shift_Del DEL T T - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr8:35608248delT ENST00000287272.2 + 12 1897 c.1877delT c.(1876-1878)gtfs p.V626fs UNC5D_ENST00000420357.1_Frame_Shift_Del_p.V628fs|UNC5D_ENST00000416672.1_Frame_Shift_Del_p.V700fs|UNC5D_ENST00000453357.2_Frame_Shift_Del_p.V690fs|UNC5D_ENST00000449677.1_Frame_Shift_Del_p.V271fs|UNC5D_ENST00000404895.2_Frame_Shift_Del_p.V695fs Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 695 ZU5. apoptosis|axon guidance integral to membrane receptor activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) AAGGTGGCGGTTTTTGGCTGC 0.488 7 773 --- --- --- --- MYBL1 4603 broad.mit.edu 37 8 67488452 67488453 + Frame_Shift_Ins INS - - T TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr8:67488452_67488453insT ENST00000522677.3 - 10 1669_1670 c.1259_1260insA c.(1258-1260)aacfs p.N420fs MYBL1_ENST00000517885.1_Intron|MYBL1_ENST00000524176.2_Frame_Shift_Ins_p.N420fs NM_001080416.2|NM_001144755.1 NP_001073885.1|NP_001138227.1 P10243 MYBA_HUMAN v-myb avian myeloblastosis viral oncogene homolog-like 1 420 Negative regulatory domain (By similarity). positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1) 25 Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938) CATTACAAGTGTTTTTTTTCCC 0.406 12 804 --- --- --- --- RP11-586K2.1 0 broad.mit.edu 37 8 89498121 89498122 + RNA INS - - A TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr8:89498121_89498122insA ENST00000521433.1 + 0 179 RP11-586K2.1_ENST00000523254.1_RNA gaacagctatgaaaaaaaaaac 0.386 7 69 --- --- --- --- PABPC1 26986 broad.mit.edu 37 8 101724994 101724995 + Frame_Shift_Ins INS - - A rs140822921 by1000genomes TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr8:101724994_101724995insA ENST00000318607.5 - 6 1889_1890 c.761_762insT c.(760-762)agafs p.R254fs PABPC1_ENST00000522387.1_Frame_Shift_Ins_p.R222fs|PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000519004.1_Frame_Shift_Ins_p.R209fs NM_002568.3 NP_002559.2 P11940 PABP1_HUMAN poly(A) binding protein, cytoplasmic 1 254 CSDE1-binding.|RRM 3. mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation catalytic step 2 spliceosome|cytosol nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1) 40 all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206) CATTGAGCTCCTTTCCGTTCAT 0.371 11 331 --- --- --- --- UBR5 51366 broad.mit.edu 37 8 103289348 103289349 + Frame_Shift_Ins INS - - T TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr8:103289348_103289349insT ENST00000520539.1 - 45 6966_6967 c.6360_6361insA c.(6358-6363)aaaaggfs p.R2121fs UBR5_ENST00000521922.1_Frame_Shift_Ins_p.R2115fs|UBR5_ENST00000220959.4_Frame_Shift_Ins_p.R2121fs NM_015902.5 NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 2121 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding p.E2121fs*28(2) NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) TCTTCCCCTTCTTTTTTTTGCC 0.381 7 550 --- --- --- --- TSNARE1 203062 broad.mit.edu 37 8 143310866 143310868 + In_Frame_Del DEL GAT GAT - rs142964918 TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr8:143310866_143310868delGAT ENST00000524325.1 - 13 1691_1693 c.1516_1518delATC c.(1516-1518)del p.I506del TSNARE1_ENST00000520166.1_In_Frame_Del_p.I507del|TSNARE1_ENST00000307180.3_In_Frame_Del_p.I507del Q96NA8 TSNA1_HUMAN t-SNARE domain containing 1 507 Poly-Ile. vesicle-mediated transport integral to membrane breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1) 20 all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) CAGAGGTGGCGATGATGATGATG 0.512 8 317 --- --- --- --- KANK1 23189 broad.mit.edu 37 9 732475 732477 + In_Frame_Del DEL GAG GAG - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr9:732475_732477delGAG ENST00000382303.1 + 10 3755_3757 c.3103_3105delGAG c.(3103-3105)del p.E1039del KANK1_ENST00000382293.3_In_Frame_Del_p.E881del|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_In_Frame_Del_p.E1039del 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 9 671 --- --- --- --- HRCT1 646962 broad.mit.edu 37 9 35906348 35906350 + In_Frame_Del DEL CTG CTG - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr9:35906348_35906350delCTG ENST00000354323.2 + 1 160_162 c.64_66delCTG c.(64-66)del p.L28del NM_001039792.1 NP_001034881.1 Q6UXD1 HRCT1_HUMAN histidine rich carboxyl terminus 1 28 integral to membrane NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1) 4 TGTGGCGGTCctgctgctgctgc 0.670 8 195 --- --- --- --- NFIL3 4783 broad.mit.edu 37 9 94172779 94172779 + Frame_Shift_Del DEL T T - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr9:94172779delT ENST00000297689.3 - 2 632 c.238delA c.(238-240)ggfs p.R81fs NM_005384.2 NP_005375.2 Q16649 NFIL3_HUMAN nuclear factor, interleukin 3 regulated 81 circadian rhythm|immune response|transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1) 16 TTTTTCCGCCTTTTTTCCCAA 0.423 7 1420 --- --- --- --- SETX 23064 broad.mit.edu 37 9 135203911 135203913 + In_Frame_Del DEL TCA TCA - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr9:135203911_135203913delTCA ENST00000372169.2 - 10 3254_3256 c.3072_3074delTGA c.(3070-3075)gaa>ga p.DE1024del SETX_ENST00000224140.5_In_Frame_Del_p.DE1024del|SETX_ENST00000393220.1_In_Frame_Del_p.DE1024del Q7Z333 SETX_HUMAN senataxin 1024 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) CAGGATTCTTTCATCATCATCAT 0.369 8 637 --- --- --- --- KIAA1217 56243 broad.mit.edu 37 10 24822125 24822127 + In_Frame_Del DEL GAA GAA - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr10:24822125_24822127delGAA ENST00000376451.2 + 11 2682_2684 c.2422_2424delGAA c.(2422-2424)del p.E812del KIAA1217_ENST00000396445.1_In_Frame_Del_p.E812del|KIAA1217_ENST00000307544.6_In_Frame_Del_p.E812del|KIAA1217_ENST00000376452.3_In_Frame_Del_p.E1093del|KIAA1217_ENST00000396446.1_In_Frame_Del_p.E812del|KIAA1217_ENST00000376454.3_In_Frame_Del_p.E1129del|KIAA1217_ENST00000458595.1_In_Frame_Del_p.E1094del|KIAA1217_ENST00000376462.1_In_Frame_Del_p.E1049del Q5T5P2 SKT_HUMAN KIAA1217 1129 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 GGATGAGGAGGAAGAAGAAGAAG 0.552 7 297 --- --- --- --- SYT15 83849 broad.mit.edu 37 10 46969401 46969403 + In_Frame_Del DEL CAG CAG - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr10:46969401_46969403delCAG ENST00000374325.3 - 2 210_212 c.58_60delCTG c.(58-60)del p.L21del SYT15_ENST00000503753.1_In_Frame_Del_p.L21del|SYT15_ENST00000374321.4_In_Frame_Del_p.L21del|SYT15_ENST00000374323.3_Intron NM_181519.2 NP_852660.1 Q9BQS2 SYT15_HUMAN synaptotagmin XV 21 integral to membrane|plasma membrane cervix(1)|endometrium(5)|kidney(2)|lung(5) 13 CCCCGATCAACAGCAGCAGCAGC 0.631 8 198 --- --- --- --- PCDH15 65217 broad.mit.edu 37 10 55587198 55587200 + In_Frame_Del DEL GGC GGC - rs12246234 TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr10:55587198_55587200delGGC ENST00000373965.2 - 33 4735_4737 c.4341_4343delGCC c.(4339-4344)cct>cc p.PP1449del PCDH15_ENST00000395438.1_In_Frame_Del_p.PP1442del|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395433.1_In_Frame_Del_p.PP1417del|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395445.1_In_Frame_Del_p.PP1449del|PCDH15_ENST00000437009.1_In_Frame_Del_p.PP1371del|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000361849.3_In_Frame_Del_p.PP1442del|PCDH15_ENST00000395430.1_In_Frame_Del_p.PP1439del|PCDH15_ENST00000395432.2_In_Frame_Del_p.PP1402del|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000414778.1_In_Frame_Del_p.PP1444del|PCDH15_ENST00000409834.1_In_Frame_Del_p.PP1053del|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000320301.6_In_Frame_Del_p.PP1442del NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1442 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) ACCTggcggaggcggcggcggcg 0.571 HNSCC(58;0.16) 10 561 --- --- --- --- ANK3 288 broad.mit.edu 37 10 61828745 61828747 + In_Frame_Del DEL GTG GTG - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr10:61828745_61828747delGTG ENST00000280772.1 - 37 12083_12085 c.11892_11894delCAC c.(11890-11895)act>ac p.TT3964del ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 3964 Thr-rich. establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 ggtggtggcagtggtggtggtgg 0.498 9 705 --- --- --- --- CCAR1 55749 broad.mit.edu 37 10 70509285 70509286 + Frame_Shift_Del DEL GA GA - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr10:70509285_70509286delGA ENST00000265872.6 + 10 1080_1081 c.961_962delGA c.(961-963)gfs p.E321fs CCAR1_ENST00000543719.1_Frame_Shift_Del_p.E306fs|CCAR1_ENST00000535016.1_Frame_Shift_Del_p.E306fs NM_018237.2 NP_060707.2 Q8IX12 CCAR1_HUMAN cell division cycle and apoptosis regulator 1 321 Arg-rich. apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm|perinuclear region of cytoplasm calcium ion binding|nucleic acid binding|protein binding NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3) 56 TTTCAGTCGTGAGAGAGAGAGA 0.391 7 212 --- --- --- --- ZMIZ1 57178 broad.mit.edu 37 10 81070787 81070789 + In_Frame_Del DEL CTC CTC - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr10:81070787_81070789delCTC ENST00000334512.5 + 24 3514_3516 c.2942_2944delCTC c.(2941-2946)gct>g p.AP981del ZMIZ1_ENST00000446377.2_Intron NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 981 Pro-rich. transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) CACAGTGGGGCTCCTCCTCCTCC 0.635 23 987 --- --- --- --- AGAP11 119385 broad.mit.edu 37 10 88753099 88753100 + RNA INS - - T TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr10:88753099_88753100insT ENST00000444431.1 + 0 64 RP11-96C23.5_ENST00000433214.2_RNA Q8TF27 AGA11_HUMAN ankyrin repeat and GTPase domain Arf GTPase activating protein 11 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding AATGAGTTTACTTTTTTTTTTA 0.307 12 228 --- --- --- --- HELLS 3070 broad.mit.edu 37 10 96331163 96331163 + Frame_Shift_Del DEL A A - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr10:96331163delA ENST00000348459.5 + 7 559 c.454delA c.(454-456)aafs p.K153fs HELLS_ENST00000239026.6_3'UTR|HELLS_ENST00000394036.1_Stop_Codon_Del|HELLS_ENST00000394045.1_Frame_Shift_Del_p.K153fs|HELLS_ENST00000394044.1_Frame_Shift_Del_p.K153fs|HELLS_ENST00000371332.4_Frame_Shift_Del_p.K153fs NM_018063.3 NP_060533.2 Q9NRZ9 HELLS_HUMAN helicase, lymphoid-specific 153 cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent centromeric heterochromatin|nucleus ATP binding|DNA binding|helicase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 Colorectal(252;0.0429) all cancers(201;2.13e-05) GTCTGTGGCTAAAAAAAATAA 0.254 7 149 --- --- --- --- TM9SF3 56889 broad.mit.edu 37 10 98336475 98336475 + Frame_Shift_Del DEL T T - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr10:98336475delT ENST00000371142.4 - 2 430 c.214delA c.(214-216)gtfs p.S72fs NM_020123.3 NP_064508.3 Q9HD45 TM9S3_HUMAN transmembrane 9 superfamily member 3 72 integral to membrane binding breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1) 15 Colorectal(252;0.158) Epithelial(162;1.84e-09)|all cancers(201;2.84e-08) TGACTGATACTTTTTTTTGAC 0.363 10 634 --- --- --- --- POLL 27343 broad.mit.edu 37 10 103345131 103345133 + In_Frame_Del DEL GGA GGA - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr10:103345131_103345133delGGA ENST00000370162.3 - 4 1007_1009 c.513_515delTCC c.(511-516)ccc>cc p.PP171del POLL_ENST00000299206.4_In_Frame_Del_p.PP171del|POLL_ENST00000339310.3_Intron|DPCD_ENST00000470165.1_Intron|POLL_ENST00000370158.3_Intron|POLL_ENST00000370169.1_In_Frame_Del_p.PP171del|POLL_ENST00000370172.1_In_Frame_Del_p.PP83del|DPCD_ENST00000416979.2_Intron|POLL_ENST00000456836.2_Intron|POLL_ENST00000436284.2_Intron NM_001174084.1|NM_001174085.1|NM_013274.3 NP_001167555.1|NP_001167556.1|NP_037406.1 Q9UGP5 DPOLL_HUMAN polymerase (DNA directed), lambda 171 DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes nucleus DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2) 19 Colorectal(252;0.234) Epithelial(162;1.55e-08)|all cancers(201;6.64e-07) AGGCCTGGTGGGAGGAGGAGGAG 0.591 DNA polymerases (catalytic subunits) 7 395 --- --- --- --- ADD3 120 broad.mit.edu 37 10 111893350 111893350 + Frame_Shift_Del DEL A A - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr10:111893350delA ENST00000277900.8 + 14 2364 c.1999delA c.(1999-2001)aafs p.K669fs ADD3_ENST00000356080.4_Frame_Shift_Del_p.K701fs|ADD3_ENST00000360162.3_Frame_Shift_Del_p.K669fs NM_001121.2 NP_001112.2 Q9UEY8 ADDG_HUMAN adducin 3 (gamma) 701 cytoskeleton actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 29 Breast(234;0.052)|Lung NSC(174;0.223) Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742) GAAAAAGAACAAAAAAAAGGA 0.333 8 539 --- --- --- --- PHRF1 57661 broad.mit.edu 37 11 592586 592588 + In_Frame_Del DEL GAG GAG - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr11:592586_592588delGAG ENST00000264555.5 + 6 660_662 c.532_534delGAG c.(532-534)del p.E181del PHRF1_ENST00000533464.1_In_Frame_Del_p.E177del|PHRF1_ENST00000416188.2_In_Frame_Del_p.E181del|PHRF1_ENST00000413872.2_In_Frame_Del_p.E180del NM_020901.2 NP_065952.2 Q9P1Y6 PHRF1_HUMAN PHD and ring finger domains 1 181 Poly-Glu. RNA polymerase binding|zinc ion binding breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2) 28 CAAAGCGAGCGAGGAGGAGGAGG 0.616 7 771 --- --- --- --- UBQLN3 50613 broad.mit.edu 37 11 5529918 5529920 + In_Frame_Del DEL TGG TGG - rs2234451 byFrequency TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr11:5529918_5529920delTGG ENST00000311659.4 - 2 1016_1018 c.869_871delCCA c.(868-873)agc>a p.TS290del HBG2_ENST00000380259.2_Intron NM_017481.2 NP_059509.1 Q9H347 UBQL3_HUMAN ubiquilin 3 290 T -> S (in dbSNP:rs2234451). NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAAGGTTGGCTGGTGGTGGTGGT 0.537 11 655 --- --- --- --- PAMR1 25891 broad.mit.edu 37 11 35513670 35513670 + Frame_Shift_Del DEL C C - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr11:35513670delC ENST00000378880.2 - 3 747 c.302delG c.(301-303)gtfs p.G101fs PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000532848.1_Frame_Shift_Del_p.G61fs|PAMR1_ENST00000278360.3_Frame_Shift_Del_p.G101fs|PAMR1_ENST00000378878.3_Frame_Shift_Del_p.G101fs NM_001001991.1 NP_001001991.1 Q6UXH9 PAMR1_HUMAN peptidase domain containing associated with muscle regeneration 1 101 proteolysis extracellular region serine-type endopeptidase activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 26 ATCCAAGGTACCCCCCCATGA 0.517 7 1306 --- --- --- --- OR5A1 219982 broad.mit.edu 37 11 59210950 59210951 + Frame_Shift_Ins INS - - T TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr11:59210950_59210951insT ENST00000302030.2 + 1 334_335 c.309_310insT c.(307-312)cattttfs p.HF103fs NM_001004728.1 NP_001004728.1 Q8NGJ0 OR5A1_HUMAN olfactory receptor, family 5, subfamily A, member 1 103 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 28 GTGCTGCTCAGTTTTTTTTCTT 0.510 8 883 --- --- --- --- ATG16L2 89849 broad.mit.edu 37 11 72528863 72528865 + In_Frame_Del DEL AGG AGG - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr11:72528863_72528865delAGG ENST00000321297.5 + 3 419_421 c.281_283delAGG c.(280-285)cag>c p.QE94del ATG16L2_ENST00000534905.1_In_Frame_Del_p.QE94del NM_033388.1 NP_203746.1 Q8NAA4 A16L2_HUMAN autophagy related 16-like 2 (S. cerevisiae) 94 autophagy|protein transport cytoplasm protein binding breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9) 14 BRCA - Breast invasive adenocarcinoma(5;2.73e-06) GTGAAGTGGCAGGAGGAGGAGGA 0.591 8 200 --- --- --- --- UVRAG 7405 broad.mit.edu 37 11 75694430 75694431 + Splice_Site INS - - A TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr11:75694430_75694431insA ENST00000356136.3 + 8 940_941 c.e8-1 UVRAG_ENST00000533454.1_Splice_Site|UVRAG_ENST00000531818.1_Splice_Site|UVRAG_ENST00000532130.1_Splice_Site|UVRAG_ENST00000528420.1_Splice_Site NM_003369.3 NP_003360.2 Q9P2Y5 UVRAG_HUMAN UV radiation resistance associated DNA repair|positive regulation of autophagy early endosome|late endosome|lysosome protein binding central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2) 32 TATTTATTTAGAAAAAAAAAAG 0.302 13 209 --- --- --- --- FOLH1B 219595 broad.mit.edu 37 11 89407177 89407177 + RNA DEL C C - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr11:89407177delC ENST00000532352.1 + 0 1114 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 TTTTTTTTTTCCCCAATCTGG 0.303 7 151 --- --- --- --- MMP12 4321 broad.mit.edu 37 11 102738793 102738794 + RNA INS - - T rs35342965 by1000genomes TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr11:102738793_102738794insT ENST00000532855.1 - 0 727_728 P39900 MMP12_HUMAN matrix metallopeptidase 12 (macrophage elastase) positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) TGAGGAACAAGTGGTGCCTAAG 0.416 10 46 --- --- --- --- SIK2 23235 broad.mit.edu 37 11 111594527 111594529 + In_Frame_Del DEL CAG CAG - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr11:111594527_111594529delCAG ENST00000304987.3 + 15 2628_2630 c.2455_2457delCAG c.(2455-2457)del p.Q822del NM_015191.1 NP_056006.1 Q9H0K1 SIK2_HUMAN salt-inducible kinase 2 822 intracellular protein kinase cascade|regulation of insulin receptor signaling pathway Golgi apparatus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 30 CACGCAGCTACAGCAGCAGCAGc 0.640 8 821 --- --- --- --- PVRL1 5818 broad.mit.edu 37 11 119535678 119535680 + In_Frame_Del DEL CCT CCT - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr11:119535678_119535680delCCT ENST00000264025.3 - 6 1861_1863 c.1331_1333delAGG c.(1330-1335)ggc>g p.EG444del PVRL1_ENST00000341398.2_Intron NM_002855.4 NP_002846.3 Q15223 PVRL1_HUMAN poliovirus receptor-related 1 (herpesvirus entry mediator C) 444 Poly-Glu. adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response cell-cell adherens junction|extracellular region|integral to membrane cell adhesion molecule binding|coreceptor activity|protein homodimerization activity p.E444fs*>73(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.29e-05) CCTCCACCGCcctcctcctcctc 0.660 7 225 --- --- --- --- CHD4 1108 broad.mit.edu 37 12 6711145 6711147 + In_Frame_Del DEL TCC TCC - rs71584865 byFrequency TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr12:6711145_6711147delTCC ENST00000309577.6 - 4 580_582 c.417_419delGGA c.(415-420)gat>ga p.ED139del CHD4_ENST00000544484.1_In_Frame_Del_p.ED136del|CHD4_ENST00000544040.1_In_Frame_Del_p.ED132del|CHD4_ENST00000357008.2_In_Frame_Del_p.ED139del Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 139 Poly-Asp. E -> D (in dbSNP:rs1639122). chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 ATCATCATCAtcctcctcctcct 0.453 8 292 --- --- --- --- CHD4 1108 broad.mit.edu 37 12 6711546 6711546 + Frame_Shift_Del DEL T T - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr12:6711546delT ENST00000309577.6 - 3 381 c.218delA c.(217-219)agfs p.K73fs CHD4_ENST00000544484.1_Frame_Shift_Del_p.K70fs|CHD4_ENST00000544040.1_Frame_Shift_Del_p.K73fs|CHD4_ENST00000357008.2_Frame_Shift_Del_p.K73fs Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 73 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 ACTCACCTCCTTTTTTTGGCG 0.468 8 1409 --- --- --- --- FOXJ2 55810 broad.mit.edu 37 12 8200558 8200560 + In_Frame_Del DEL CAG CAG - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr12:8200558_8200560delCAG ENST00000162391.3 + 7 2043_2045 c.898_900delCAG c.(898-900)del p.Q306del FOXJ2_ENST00000428177.2_In_Frame_Del_p.Q306del NM_018416.2 NP_060886.1 Q9P0K8 FOXJ2_HUMAN forkhead box J2 306 Poly-Gln. embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development nucleolus|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 16 Kidney(36;0.0944) gccacctcaacagcagcagcagc 0.640 11 296 --- --- --- --- TAS2R42 353164 broad.mit.edu 37 12 11338799 11338799 + Frame_Shift_Del DEL A A - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr12:11338799delA ENST00000334266.1 - 1 744 c.745delT c.(745-747)ccfs p.S249fs NM_181429.1 NP_852094.1 Q7RTR8 T2R42_HUMAN taste receptor, type 2, member 42 249 sensory perception of taste integral to membrane G-protein coupled receptor activity breast(1)|kidney(2)|lung(4)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(49;0.0455) ACTTGTAAGGAAAAAAAATGA 0.423 7 424 --- --- --- --- PRB2 653247 broad.mit.edu 37 12 11546320 11546322 + In_Frame_Del DEL TTG TTG - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr12:11546320_11546322delTTG ENST00000389362.4 - 3 725_727 c.690_692delCAA c.(688-693)aag>aa p.NK230del PRB1_ENST00000546254.1_Intron NM_006248.3 NP_006239.3 proline-rich protein BstNI subfamily 2 NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) ACTTTGGGACTTGTTGTCTCCTT 0.601 21 1206 --- --- --- --- OR6C75 390323 broad.mit.edu 37 12 55759486 55759486 + Frame_Shift_Del DEL T T - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr12:55759486delT ENST00000343399.3 + 1 592 c.592delT c.(592-594)ttfs p.F199fs NM_001005497.1 NP_001005497.1 A6NL08 O6C75_HUMAN olfactory receptor, family 6, subfamily C, member 75 199 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L200fs*1(1) endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2) 25 ACTCATGGCATTTTTTTTAGC 0.393 7 549 --- --- --- --- SLC39A5 283375 broad.mit.edu 37 12 56628997 56628999 + In_Frame_Del DEL CTG CTG - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr12:56628997_56628999delCTG ENST00000266980.4 + 5 984_986 c.691_693delCTG c.(691-693)del p.L234del SLC39A5_ENST00000454355.2_In_Frame_Del_p.L234del NM_001135195.1 NP_001128667.1 Q6ZMH5 S39A5_HUMAN solute carrier family 39 (zinc transporter), member 5 234 zinc ion transport basolateral plasma membrane|integral to membrane metal ion transmembrane transporter activity NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 TCCCCTATCCCTGCTGCTGCTGC 0.635 11 1211 --- --- --- --- SLC26A10 65012 broad.mit.edu 37 12 58014154 58014154 + Frame_Shift_Del DEL C C - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr12:58014154delC ENST00000379218.2 + 1 462 c.151delC c.(151-153)ccfs p.P52fs SLC26A10_ENST00000320442.4_Frame_Shift_Del_p.P52fs Q8NG04 S2610_HUMAN solute carrier family 26, member 10 52 integral to membrane antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7) 19 Melanoma(17;0.122) GGCCTCCGTGCCCCCGGTGTT 0.562 7 3371 --- --- --- --- ZFC3H1 196441 broad.mit.edu 37 12 72057256 72057258 + In_Frame_Del DEL GCT GCT - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr12:72057256_72057258delGCT ENST00000378743.3 - 1 491_493 c.133_135delAGC c.(133-135)del p.S45del ZFC3H1_ENST00000552037.1_In_Frame_Del_p.S45del|THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000548100.1_In_Frame_Del_p.S45del NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing 45 Ser-rich. RNA processing intracellular metal ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GCCCGCCGCCGCTGCTGCTGCTG 0.631 OREG0021993 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 850 --- --- --- --- VPS37B 79720 broad.mit.edu 37 12 123351892 123351892 + Frame_Shift_Del DEL G G - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr12:123351892delG ENST00000267202.2 - 4 1010 c.629delC c.(628-630)cafs p.P213fs NM_024667.2 NP_078943.1 Q9H9H4 VP37B_HUMAN vacuolar protein sorting 37 homolog B (S. cerevisiae) 213 Pro-rich. cellular membrane organization|endosome transport|protein transport late endosome membrane p.P211fs*>76(1) breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1) 5 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205) CGGGGGTGGTGGGGGGGGGAT 0.716 11 156 --- --- --- --- DDX55 57696 broad.mit.edu 37 12 124103201 124103202 + Translation_Start_Site DEL TG TG - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr12:124103201_124103202delTG ENST00000421670.3 + 0 639_640 DDX55_ENST00000538744.1_Intron|DDX55_ENST00000541259.1_Intron|DDX55_ENST00000238146.4_Intron Q8NHQ9 DDX55_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 55 ATP binding|ATP-dependent helicase activity|RNA binding autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772) GAATGTGGTATGTGTGTGTGTG 0.520 OREG0022230 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 258 --- --- --- --- SFSWAP 6433 broad.mit.edu 37 12 132281734 132281736 + In_Frame_Del DEL AGA AGA - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr12:132281734_132281736delAGA ENST00000261674.4 + 16 2687_2689 c.2546_2548delAGA c.(2545-2550)gag>g p.EK849del SFSWAP_ENST00000541286.1_In_Frame_Del_p.EK901del|SFSWAP_ENST00000539506.1_3'UTR NM_004592.3 NP_004583.2 Q12872 SFSWA_HUMAN splicing factor, suppressor of white-apricot homolog (Drosophila) 849 Arg/Ser-rich (RS domain). mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2) 25 AGTCCCCACGAGAAGAAGAAGAA 0.606 15 1152 --- --- --- --- EP400 57634 broad.mit.edu 37 12 132547093 132547094 + In_Frame_Ins INS - - CAG rs113304321 by1000genomes TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr12:132547093_132547094insCAG ENST00000333577.4 + 48 8398_8399 c.8289_8290insCAG c.(8287-8292)caagca>caCAGagca p.2763_2763Q>HR EP400_ENST00000389561.2_In_Frame_Ins_p.2727_2727Q>HR|EP400_ENST00000332482.4_In_Frame_Ins_p.2690_2690Q>HR|EP400_ENST00000330386.6_In_Frame_Ins_p.2646_2646Q>HR|EP400_ENST00000389562.2_In_Frame_Ins_p.2726_2726Q>HR Q96L91 EP400_HUMAN E1A binding protein p400 2763 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2726Q(9) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcaacaacagcagcagca 0.564 52 308 --- --- --- --- PABPC3 5042 broad.mit.edu 37 13 25671333 25671333 + Frame_Shift_Del DEL A A - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 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 7 898 --- --- --- --- WASF3 10810 broad.mit.edu 37 13 27255386 27255387 + Frame_Shift_Ins INS - - C rs141429361 TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr13:27255386_27255387insC ENST00000361042.4 + 8 1128_1129 c.903_904insC c.(901-906)ccccccfs p.PP301fs WASF3_ENST00000335327.5_Frame_Shift_Ins_p.PP304fs Q9UPY6 WASF3_HUMAN WAS protein family, member 3 304 actin filament polymerization cytoplasm|cytoskeleton actin binding breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2) 22 Colorectal(5;0.000247) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155) CTCAGCAGCCGCCCCCCCCGCC 0.678 14 513 --- --- --- --- DIAPH3 81624 broad.mit.edu 37 13 60582733 60582734 + Frame_Shift_Ins INS - - T TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr13:60582733_60582734insT ENST00000400324.4 - 9 1178_1179 c.958_959insA c.(958-960)tgafs p.*320fs DIAPH3_ENST00000400330.1_Frame_Shift_Ins_p.*320fs|DIAPH3_ENST00000267215.4_Frame_Shift_Ins_p.*320fs|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000377908.2_Frame_Shift_Ins_p.*309fs|DIAPH3_ENST00000400319.1_Frame_Shift_Ins_p.*250fs|DIAPH3_ENST00000400320.1_Frame_Shift_Ins_p.*274fs NM_001042517.1|NM_001258366.1 NP_001035982.1|NP_001245295.1 Q9NSV4 DIAP3_HUMAN diaphanous-related formin 3 320 GBD/FH3. actin cytoskeleton organization actin binding|Rho GTPase binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) AAATCTGTCAATTTTTTTTTCT 0.322 11 560 --- --- --- --- BAZ1A 11177 broad.mit.edu 37 14 35331423 35331423 + Frame_Shift_Del DEL T T - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr14:35331423delT ENST00000360310.1 - 3 786 c.219delA c.(217-219)aafs p.K73fs BAZ1A_ENST00000358716.4_Frame_Shift_Del_p.K73fs|BAZ1A_ENST00000553853.1_5'UTR|BAZ1A_ENST00000382422.2_Frame_Shift_Del_p.K73fs NM_013448.2 NP_038476.2 Q9NRL2 BAZ1A_HUMAN bromodomain adjacent to zinc finger domain, 1A 73 Required for association with the CHRAC1/POLE3 complex.|Required for interaction with NCOR1.|WAC. chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent ACF complex zinc ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 Breast(36;0.0388)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175) GBM - Glioblastoma multiforme(112;0.0659) TCTGTCTTGCTTTTTTTTCTG 0.428 8 927 --- --- --- --- PSMA6 5687 broad.mit.edu 37 14 35782216 35782216 + Frame_Shift_Del DEL A A - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr14:35782216delA ENST00000261479.4 + 5 659 c.539delA c.(538-540)gafs p.E180fs PSMA6_ENST00000555764.1_Frame_Shift_Del_p.E101fs|KIAA0391_ENST00000557565.1_3'UTR|PSMA6_ENST00000553809.1_Frame_Shift_Del_p.E186fs|PSMA6_ENST00000556506.1_Frame_Shift_Del_p.E180fs|PSMA6_ENST00000540871.1_Frame_Shift_Del_p.E161fs NM_002791.1 NP_002782.1 P60900 PSA6_HUMAN proteasome (prosome, macropain) subunit, alpha type, 6 180 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1) 10 Breast(36;0.0519)|Hepatocellular(127;0.158) Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973) GBM - Glioblastoma multiforme(112;0.0234) AGCTTCCTTGAAAAAAAAGTG 0.403 10 804 --- --- --- --- SIPA1L1 26037 broad.mit.edu 37 14 72190482 72190484 + In_Frame_Del DEL TCC TCC - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr14:72190482_72190484delTCC ENST00000555818.1 + 16 4738_4740 c.4390_4392delTCC c.(4390-4392)del p.S1468del SIPA1L1_ENST00000381232.3_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000537413.1_In_Frame_Del_p.S922del|SIPA1L1_ENST00000358550.2_In_Frame_Del_p.S1447del NM_015556.1 NP_056371.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 1468 Ser-rich. actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) ctcctcctcttcctcctcctcct 0.552 11 672 --- --- --- --- ELMSAN1 91748 broad.mit.edu 37 14 74205926 74205928 + In_Frame_Del DEL CTG CTG - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr14:74205926_74205928delCTG ENST00000286523.5 - 2 1566_1568 c.784_786delCAG c.(784-786)del p.Q262del ELMSAN1_ENST00000394071.2_In_Frame_Del_p.Q262del NM_194278.3 NP_919254.2 ELM2 and Myb/SANT-like domain containing 1 GTAGGgctgcctgctgctgctgc 0.650 7 165 --- --- --- --- DDX24 57062 broad.mit.edu 37 14 94545821 94545823 + In_Frame_Del DEL CCT CCT - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr14:94545821_94545823delCCT ENST00000330836.5 - 2 397_399 c.266_268delAGG c.(265-270)gga>g p.EG89del DDX24_ENST00000555054.1_In_Frame_Del_p.EG46del|DDX24_ENST00000544005.1_Intron NM_020414.3 NP_065147.1 Q9GZR7 DDX24_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 24 89 Poly-Glu. RNA metabolic process cytoplasm|nucleolus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1) 23 all_cancers(154;0.12) Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207) CTAGACTTTCCCTCCTCCTCCTC 0.443 7 768 --- --- --- --- SYNE3 161176 broad.mit.edu 37 14 95921888 95921890 + In_Frame_Del DEL CTC CTC - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr14:95921888_95921890delCTC ENST00000334258.5 - 5 975_977 c.961_963delGAG c.(961-963)del p.E321del SYNE3_ENST00000553340.1_In_Frame_Del_p.E321del|SYNE3_ENST00000557275.1_In_Frame_Del_p.E321del|SYNE3_ENST00000554873.1_In_Frame_Del_p.E78del NM_152592.3 NP_689805.3 spectrin repeat containing, nuclear envelope family member 3 breast(1)|endometrium(2)|lung(25) 28 CCCGCAGCCGCTCCTCCTCCTCC 0.616 10 759 --- --- --- --- BCL11B 64919 broad.mit.edu 37 14 99641544 99641546 + In_Frame_Del DEL CTC CTC - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr14:99641544_99641546delCTC ENST00000345514.2 - 3 1680_1682 c.1414_1416delGAG c.(1414-1416)del p.E472del BCL11B_ENST00000357195.3_In_Frame_Del_p.E543del|BCL11B_ENST00000443726.2_In_Frame_Del_p.E349del NM_022898.1 NP_075049.1 Q9C0K0 BC11B_HUMAN B-cell CLL/lymphoma 11B (zinc finger protein) 543 nucleus zinc ion binding 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) CCAGTAGCAGctcctcctcctcc 0.700 T TLX3 T-ALL 8 40 --- --- --- --- IGHV3-21 0 broad.mit.edu 37 14 106691799 106691801 + RNA DEL ACT ACT - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr14:106691799_106691801delACT ENST00000390607.2 - 0 301_303 AGTATATGTAACTACTACTACTA 0.517 13 1198 --- --- --- --- CHEK2P2 0 broad.mit.edu 37 15 20490739 20490739 + RNA DEL G G - rs143465906 TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr15:20490739delG ENST00000555186.1 + 0 568 NR_038836.1 GTTACAACCTGtttttttttt 0.423 9 364 --- --- --- --- ULK4P3 0 broad.mit.edu 37 15 30406088 30406089 + RNA INS - - T TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr15:30406088_30406089insT ENST00000568486.1 + 0 402 NR_026859.1 TGCCTCAAAAGTTTTTTTTTTT 0.297 20 66 --- --- --- --- EMC7 56851 broad.mit.edu 37 15 34393991 34393993 + In_Frame_Del DEL AGC AGC - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr15:34393991_34393993delAGC ENST00000256545.4 - 1 156_158 c.48_50delGCT c.(46-51)cta>ct p.LL16del EMC7_ENST00000532113.1_5'UTR NM_020154.2 NP_064539.1 ER membrane protein complex subunit 7 ATCCCCCGATAGCAGCAGCAGCA 0.665 10 913 --- --- --- --- SRP14 6727 broad.mit.edu 37 15 40328597 40328599 + In_Frame_Del DEL TGC TGC - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr15:40328597_40328599delTGC ENST00000267884.6 - 5 417_419 c.346_348delGCA c.(346-348)del p.A116del SRP14_ENST00000558527.1_5'UTR|SRP14_ENST00000560773.1_In_Frame_Del_p.A36del|SRP14_ENST00000558720.1_In_Frame_Del_p.A36del 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 15 415 --- --- --- --- ZNF609 23060 broad.mit.edu 37 15 64967247 64967247 + Frame_Shift_Del DEL A A - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr15:64967247delA ENST00000326648.3 + 4 2322 c.2194delA c.(2194-2196)aafs p.K735fs NM_015042.1 NP_055857.1 O15014 ZN609_HUMAN zinc finger protein 609 735 Poly-Lys. nucleus zinc ion binding p.K734fs*12(1) breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 AAAGAAAGACAAAAAAAAGAA 0.488 8 898 --- --- --- --- CPLX3 594855 broad.mit.edu 37 15 75122558 75122560 + In_Frame_Del DEL GAG GAG - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr15:75122558_75122560delGAG ENST00000395018.4 + 3 497_499 c.340_342delGAG c.(340-342)del p.E118del RP11-414J4.2_ENST00000564823.1_RNA NM_001030005.2 NP_001025176.1 Q8WVH0 CPLX3_HUMAN complexin 3 118 cell junction|synapse syntaxin binding large_intestine(2)|lung(2) 4 GGAGGACACAGAGGAGGAGGAGG 0.616 7 387 --- --- --- --- RP11-266O8.1 0 broad.mit.edu 37 15 93974510 93974510 + RNA DEL C C - rs57286078 TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr15:93974510delC ENST00000543286.1 + 0 545 TGGCTGGGTTCtttttttttt 0.433 16 153 --- --- --- --- BRICD5 283870 broad.mit.edu 37 16 2260586 2260588 + In_Frame_Del DEL CAG CAG - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr16:2260586_2260588delCAG ENST00000328540.3 - 2 1231_1233 c.115_117delCTG c.(115-117)del p.L39del BRICD5_ENST00000566018.1_In_Frame_Del_p.L39del|BRICD5_ENST00000562360.1_In_Frame_Del_p.L39del NM_182563.3 NP_872369.2 BRICHOS domain containing 5 CGGCcagcaccagcagcagcagc 0.660 9 195 --- --- --- --- KNOP1 400506 broad.mit.edu 37 16 19722724 19722724 + Frame_Shift_Del DEL T T - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr16:19722724delT ENST00000219837.7 - 3 1035 c.957delA c.(955-957)aafs p.K319fs AC002550.5_ENST00000565916.1_RNA|KNOP1_ENST00000568230.1_5'UTR NM_001012991.2 NP_001013009.2 lysine-rich nucleolar protein 1 p.G320fs*5(1)|p.K319N(1) CCATGTTGCCTTTTTTTTCCA 0.562 10 627 --- --- --- --- RABEP2 79874 broad.mit.edu 37 16 28931200 28931202 + In_Frame_Del DEL CTG CTG - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr16:28931200_28931202delCTG ENST00000358201.4 - 3 925_927 c.337_339delCAG c.(337-339)del p.Q113del RABEP2_ENST00000544477.1_In_Frame_Del_p.Q42del|RABEP2_ENST00000357573.6_In_Frame_Del_p.Q113del|RABEP2_ENST00000561803.1_5'UTR NM_024816.2 NP_079092.2 Q9H5N1 RABE2_HUMAN rabaptin, RAB GTPase binding effector protein 2 113 Poly-Gln. endocytosis|protein transport early endosome growth factor activity|GTPase activator activity breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1) 16 CCTCACAGTCCTGCTGCTGCTGC 0.640 7 319 --- --- --- --- TAOK2 9344 broad.mit.edu 37 16 29998498 29998500 + In_Frame_Del DEL CTG CTG - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr16:29998498_29998500delCTG ENST00000308893.4 + 16 3948_3950 c.2905_2907delCTG c.(2905-2907)del p.L974del TAOK2_ENST00000543033.1_In_Frame_Del_p.L861del|TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000416441.2_In_Frame_Del_p.L801del NM_001252043.1|NM_016151.3 NP_001238972.1|NP_057235.2 Q9UL54 TAOK2_HUMAN TAO kinase 2 974 Leu-rich. actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 CCTGCCCCTCCTGCTGCTGCTGC 0.709 7 554 --- --- --- --- BCL7C 9274 broad.mit.edu 37 16 30899223 30899223 + Frame_Shift_Del DEL G G - rs150838242 TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr16:30899223delG ENST00000215115.4 - 6 1632 c.617delC c.(616-618)cafs p.P206fs MIR4519_ENST00000564901.1_RNA|BCL7C_ENST00000380317.4_Intron|AC106782.20_ENST00000572471.1_RNA|MIR4519_ENST00000570025.1_RNA|MIR4519_ENST00000565573.1_RNA NM_004765.2 NP_004756.2 Q8WUZ0 BCL7C_HUMAN B-cell CLL/lymphoma 7C 206 Pro-rich. apoptosis large_intestine(1)|lung(3)|prostate(1)|skin(1) 6 Colorectal(24;0.198) GCGCTTGAGTGGGGGGGCACC 0.622 7 1167 --- --- --- --- RP11-23E10.4 0 broad.mit.edu 37 16 33365420 33365420 + RNA DEL A A - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr16:33365420delA ENST00000568520.1 - 0 249 TACAAACTATAAAAAAACAGA 0.358 7 93 --- --- --- --- IRX6 79190 broad.mit.edu 37 16 55362674 55362676 + In_Frame_Del DEL GAG GAG - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 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 13 454 --- --- --- --- SLC9A5 6553 broad.mit.edu 37 16 67300017 67300019 + In_Frame_Del DEL GAG GAG - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr16:67300017_67300019delGAG ENST00000299798.11 + 15 2172_2174 c.2107_2109delGAG c.(2107-2109)del p.E708del NM_004594.2 NP_004585.1 Q14940 SL9A5_HUMAN solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5 708 regulation of pH integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 27 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116) CGTGGAGTCTGAGGAGGAGGAGG 0.571 8 248 --- --- --- --- EDC4 23644 broad.mit.edu 37 16 67913767 67913769 + In_Frame_Del DEL CAG CAG - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr16:67913767_67913769delCAG ENST00000358933.5 + 16 2075_2077 c.1836_1838delCAG c.(1834-1839)ccc>cc p.PS612del NM_014329.4 NP_055144.3 Q6P2E9 EDC4_HUMAN enhancer of mRNA decapping 4 612 Ser-rich. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) CTGCCTCTCCcagcagcagcagc 0.611 10 472 --- --- --- --- ZFP90 146198 broad.mit.edu 37 16 68598462 68598463 + Frame_Shift_Ins INS - - A TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr16:68598462_68598463insA ENST00000570495.1 + 5 2064_2065 c.1772_1773insA c.(1771-1773)caafs p.Q591fs ZFP90_ENST00000563169.2_Frame_Shift_Ins_p.Q591fs|ZFP90_ENST00000398253.2_Frame_Shift_Ins_p.Q591fs|RP11-615I2.7_ENST00000571720.1_RNA Q8TF47 ZFP90_HUMAN ZFP90 zinc finger protein 591 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 27 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946) AGAGCCTTCCGAAAAAAAACCA 0.411 10 903 --- --- --- --- NFAT5 10725 broad.mit.edu 37 16 69726420 69726422 + In_Frame_Del DEL CAG CAG - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr16:69726420_69726422delCAG ENST00000349945.1 + 14 3962_3964 c.2410_2412delCAG c.(2410-2412)del p.Q812del NFAT5_ENST00000566899.1_In_Frame_Del_p.Q812del|NFAT5_ENST00000432919.1_In_Frame_Del_p.Q906del|NFAT5_ENST00000354436.2_In_Frame_Del_p.Q888del|NFAT5_ENST00000393742.2_In_Frame_Del_p.Q812del|NFAT5_ENST00000567239.1_In_Frame_Del_p.Q905del NM_138714.3 NP_619728.2 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5, tonicity-responsive 888 excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.Q804Q(1)|p.Q898Q(1) NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 ATCTAATcaacagcagcagcagc 0.473 7 302 --- --- --- --- GSE1 23199 broad.mit.edu 37 16 85682290 85682290 + Frame_Shift_Del DEL C C - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr16:85682290delC ENST00000253458.7 + 3 535 c.359delC c.(358-360)acfs p.T120fs GSE1_ENST00000405402.2_Frame_Shift_Del_p.T16fs|GSE1_ENST00000393243.1_Frame_Shift_Del_p.T47fs NM_014615.2 NP_055430.1 Gse1 coiled-coil protein p.V123fs*2(1) GTGCCCAGCACCCCCCCCGTG 0.687 12 551 --- --- --- --- KDM6B 23135 broad.mit.edu 37 17 7751859 7751861 + In_Frame_Del DEL CAC CAC - rs59627144 TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr17:7751859_7751861delCAC ENST00000254846.5 + 11 2642_2644 c.2253_2255delCAC c.(2251-2256)gtc>gt p.VT751del KDM6B_ENST00000448097.2_In_Frame_Del_p.VT751del NM_001080424.1 NP_001073893.1 O15054 KDM6B_HUMAN lysine (K)-specific demethylase 6B 751 Pro-rich.|Thr-rich. inflammatory response nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5) 37 CTGTCGCCGTcaccaccaccacc 0.650 10 260 --- --- --- --- MYOCD 93649 broad.mit.edu 37 17 12647692 12647694 + In_Frame_Del DEL CAG CAG - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr17:12647692_12647694delCAG ENST00000425538.1 + 8 1110_1112 c.910_912delCAG c.(910-912)del p.Q310del MYOCD_ENST00000395988.1_In_Frame_Del_p.Q214del|MYOCD_ENST00000343344.4_In_Frame_Del_p.Q310del NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 310 Gln-rich. cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) AATCCTCAGCcagcagcagcagc 0.596 8 226 --- --- --- --- CCDC144B 0 broad.mit.edu 37 17 18498059 18498060 + RNA INS - - A rs66528329 TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr17:18498059_18498060insA ENST00000442583.1 - 0 898_899 NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 36 CTAAGTTGTTCATCAGCAACAT 0.406 17 80 --- --- --- --- RP11-160E2.17 0 broad.mit.edu 37 17 18988562 18988562 + RNA DEL T T - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr17:18988562delT ENST00000442355.2 + 0 272 CTGATGTGTGTTTTTTTTTTT 0.279 7 33 --- --- --- --- NUFIP2 57532 broad.mit.edu 37 17 27620990 27620992 + In_Frame_Del DEL GCT GCT - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr17:27620990_27620992delGCT ENST00000225388.4 - 1 144_146 c.86_88delAGC c.(85-90)ccg>c p.QP29del NUFIP2_ENST00000579665.1_In_Frame_Del_p.QP29del NM_020772.2 NP_065823.1 Q7Z417 NUFP2_HUMAN nuclear fragile X mental retardation protein interacting protein 2 29 His-rich. nucleus|polysomal ribosome protein binding|RNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1) 24 BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551) tggtggtgcggctgctgctgctg 0.591 14 468 --- --- --- --- SLFN12 55106 broad.mit.edu 37 17 33749493 33749493 + Frame_Shift_Del DEL A A - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr17:33749493delA ENST00000394562.1 - 4 1078 c.555delT c.(553-555)ttfs p.F185fs SLFN12_ENST00000452764.3_Frame_Shift_Del_p.F185fs|SLFN12_ENST00000304905.5_Frame_Shift_Del_p.F185fs Q8IYM2 SLN12_HUMAN schlafen family member 12 185 ATP binding breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 18 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CTGTTCTATCAAAAAAAACCC 0.368 7 507 --- --- --- --- KRTAP4-1 85285 broad.mit.edu 37 17 39340796 39340852 + In_Frame_Del DEL CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG - rs483929 by1000genomes TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG ENST00000398472.1 - 1 742_798 c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG c.(253-312)cgt>cg p.RPLCCQTTCHPSCGMSSCCR85del Q9BYQ7 KRA41_HUMAN keratin associated protein 4-1 85 18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL]. Missing (in allele KAP4.10). keratin filament p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2) kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 5 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) ACAGAGTGGACGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGGCGGCAGCAGC 0.646 12 381 --- --- --- --- HOXB2 3212 broad.mit.edu 37 17 46622130 46622132 + In_Frame_Del DEL AGG AGG - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr17:46622130_46622132delAGG ENST00000330070.4 - 1 1309_1311 c.142_144delCCT c.(142-144)del p.P48del HOXB-AS1_ENST00000435312.1_RNA|HOXB-AS1_ENST00000504972.3_RNA NM_002145.3 NP_002136.1 P14652 HXB2_HUMAN homeobox B2 48 blood circulation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 11 TTTGCTCGAAAGGAGGAGGAGGA 0.596 7 531 --- --- --- --- COIL 8161 broad.mit.edu 37 17 55028016 55028016 + Frame_Shift_Del DEL T T - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr17:55028016delT ENST00000240316.4 - 2 621 c.587delA c.(586-588)agfs p.K196fs NM_004645.2 NP_004636.1 P38432 COIL_HUMAN coilin 196 Lys-rich (basic). Cajal body|nucleolus protein C-terminus binding NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1) 15 Breast(9;6.15e-08) ATTCTTAGCCTTTTTTTTATA 0.393 8 600 --- --- --- --- BZRAP1 9256 broad.mit.edu 37 17 56387404 56387406 + In_Frame_Del DEL TCC TCC - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr17:56387404_56387406delTCC ENST00000355701.3 - 21 4683_4685 c.3813_3815delGGA c.(3811-3816)gaa>ga p.EE1273del BZRAP1_ENST00000343736.4_In_Frame_Del_p.EE1273del|BZRAP1_ENST00000268893.6_In_Frame_Del_p.EE1213del NM_001261835.1|NM_004758.3 NP_001248764.1|NP_004749.2 O95153 RIMB1_HUMAN benzodiazapine receptor (peripheral) associated protein 1 1273 Poly-Glu. mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) CAGctcctcttcctcctcctcct 0.586 8 425 --- --- --- --- FTSJ3 117246 broad.mit.edu 37 17 61899155 61899157 + In_Frame_Del DEL CTC CTC - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr17:61899155_61899157delCTC ENST00000427159.2 - 15 2167_2169 c.1522_1524delGAG c.(1522-1524)del p.E508del NM_017647.3 NP_060117.3 Q8IY81 RRMJ3_HUMAN FtsJ homolog 3 (E. coli) 508 RNA methylation|rRNA processing nucleolus methyltransferase activity|nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 27 GCAGTGGATTCTCCTCCTCCTCC 0.537 7 952 --- --- --- --- TEX2 55852 broad.mit.edu 37 17 62291438 62291440 + In_Frame_Del DEL TCC TCC - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr17:62291438_62291440delTCC ENST00000258991.3 - 2 222_224 c.138_140delGGA c.(136-141)gaa>ga p.EE50del TEX2_ENST00000584379.1_In_Frame_Del_p.EE50del|TEX2_ENST00000583097.1_In_Frame_Del_p.EE50del Q8IWB9 TEX2_HUMAN testis expressed 2 50 Poly-Glu. signal transduction|sphingolipid metabolic process integral to membrane breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(8;1.33e-10) READ - Rectum adenocarcinoma(1115;0.0689) ctcctcctcttcctcctcctcct 0.552 8 561 --- --- --- --- RBBP8 5932 broad.mit.edu 37 18 20572852 20572853 + Frame_Shift_Ins INS - - A TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr18:20572852_20572853insA ENST00000399722.2 + 11 1413_1414 c.1062_1063insA c.(1060-1065)ggaaaafs p.GK354fs RBBP8_ENST00000399725.2_Frame_Shift_Ins_p.GK354fs|RBBP8_ENST00000360790.5_Frame_Shift_Ins_p.GK354fs|RBBP8_ENST00000327155.5_Frame_Shift_Ins_p.GK354fs NM_203291.1 NP_976036.1 Q99708 COM1_HUMAN retinoblastoma binding protein 8 354 cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter nucleus damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity p.K357fs*3(2)|p.K355E(2)|p.G354G(2) central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1) 24 all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19) OV - Ovarian serous cystadenocarcinoma(1;0.00196) TACAGCCTGGGAAAAAAAAACA 0.361 Homologous recombination 13 429 --- --- --- --- CXXC1 30827 broad.mit.edu 37 18 47812275 47812277 + In_Frame_Del DEL CTG CTG - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr18:47812275_47812277delCTG ENST00000285106.6 - 5 1195_1197 c.481_483delCAG c.(481-483)del p.Q161del CXXC1_ENST00000589940.1_In_Frame_Del_p.Q161del|CXXC1_ENST00000412036.2_In_Frame_Del_p.Q161del NM_001101654.1|NM_014593.3 NP_001095124.1|NP_055408.2 Q9P0U4 CXXC1_HUMAN CXXC finger protein 1 161 histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck|Set1C/COMPASS complex protein binding|unmethylated CpG binding|zinc ion binding autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 24 ACCGTTTGATctgctgctgctgc 0.557 13 264 --- --- --- --- TNFSF9 8744 broad.mit.edu 37 19 6531149 6531151 + In_Frame_Del DEL GCT GCT - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr19:6531149_6531151delGCT ENST00000245817.3 + 1 140_142 c.102_104delGCT c.(100-105)ggg>gg p.GL34del NM_003811.3 NP_003802.1 P41273 TNFL9_HUMAN tumor necrosis factor (ligand) superfamily, member 9 34 apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction extracellular space|integral to membrane cytokine activity|tumor necrosis factor receptor binding central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1) 5 TGGTCGCGGGgctgctgctgctg 0.768 7 459 --- --- --- --- HAUS8 93323 broad.mit.edu 37 19 17160706 17160707 + Frame_Shift_Del DEL GA GA - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr19:17160706_17160707delGA ENST00000593360.1 - 10 3044_3045 c.1026_1027delTC c.(1024-1029)tcgtfs p.SR342fs HAUS8_ENST00000448593.2_Frame_Shift_Del_p.SR402fs|HAUS8_ENST00000253669.5_Frame_Shift_Del_p.SR403fs Q9BT25 HAUS8_HUMAN HAUS augmin-like complex, subunit 8 403 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle pole endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1) 12 CTCCCTGAACGAGAGAGAGAGG 0.495 13 1009 --- --- --- --- CTC-260E6.6 0 broad.mit.edu 37 19 20359846 20359847 + RNA DEL GT GT - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr19:20359846_20359847delGT ENST00000593655.1 - 0 199 TTAAGTAAAGGTGTGTGTGTGT 0.421 11 468 --- --- --- --- HAMP 57817 broad.mit.edu 37 19 35773520 35773522 + In_Frame_Del DEL CTC CTC - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr19:35773520_35773522delCTC ENST00000598398.1 + 2 336_338 c.40_42delCTC c.(40-42)del p.L18del HAMP_ENST00000222304.3_In_Frame_Del_p.L18del NM_021175.2 NP_066998.1 P81172 HEPC_HUMAN hepcidin antimicrobial peptide 18 defense response to bacterium|defense response to fungus|immune response|killing of cells of other organism extracellular region hormone activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1) 4 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) TTGCCTCCTGCTCCTCCTCCTCC 0.640 16 1038 --- --- --- --- WDR62 284403 broad.mit.edu 37 19 36583666 36583668 + In_Frame_Del DEL GCA GCA - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 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 9 726 --- --- --- --- PRX 57716 broad.mit.edu 37 19 40900180 40900182 + In_Frame_Del DEL TCC TCC - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 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 9 194 --- --- --- --- ERF 2077 broad.mit.edu 37 19 42753149 42753151 + In_Frame_Del DEL GAA GAA - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr19:42753149_42753151delGAA ENST00000222329.4 - 4 1270_1272 c.1113_1115delTTC c.(1111-1116)tcc>tc p.SS371del AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_In_Frame_Del_p.SS296del NM_006494.2 NP_006485.2 P50548 ERF_HUMAN Ets2 repressor factor 371 Poly-Ser. cell proliferation|regulation of transcription from RNA polymerase II promoter nucleus ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1) 17 Prostate(69;0.00682) GAATGGGGAGGAAGAAGAAGAAG 0.680 7 776 --- --- --- --- CIC 23152 broad.mit.edu 37 19 42795823 42795824 + Frame_Shift_Ins INS - - C TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr19:42795823_42795824insC ENST00000572681.2 + 12 5607_5608 c.5539_5540insC c.(5539-5541)cggfs p.R1847fs CIC_ENST00000575354.2_Frame_Shift_Ins_p.R938fs|CIC_ENST00000160740.3_Frame_Shift_Ins_p.R938fs Q96RK0 CIC_HUMAN capicua transcriptional repressor 938 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) GGGTGGAGGGGCCGGCCAGCCA 0.693 """Mis, F, S""" oligodendroglioma 9 846 --- --- --- --- CD3EAP 10849 broad.mit.edu 37 19 45911859 45911861 + In_Frame_Del DEL GAA GAA - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr19:45911859_45911861delGAA ENST00000309424.3 + 3 1121_1123 c.633_635delGAA c.(631-636)cgg>cg p.RK211del CD3EAP_ENST00000589804.1_In_Frame_Del_p.RK213del|ERCC1_ENST00000423698.2_3'UTR|ERCC1_ENST00000300853.3_3'UTR NM_012099.1 NP_036231.1 O15446 RPA34_HUMAN CD3e molecule, epsilon associated protein 211 rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway chromosome|RNA polymerase I transcription factor complex DNA-directed RNA polymerase activity breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1) 11 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0251) TGGATGTGCGGAAGAAGAAGAAG 0.581 13 722 --- --- --- --- PTH2 113091 broad.mit.edu 37 19 49926531 49926533 + In_Frame_Del DEL CAG CAG - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr19:49926531_49926533delCAG ENST00000270631.1 - 1 165_167 c.64_66delCTG c.(64-66)del p.L22del NM_178449.3 NP_848544.1 Q96A98 TIP39_HUMAN parathyroid hormone 2 22 neuropeptide signaling pathway extracellular region p.L22V(2) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836) AGGGCACCACcagcagcagcagc 0.690 12 184 --- --- --- --- NAPSA 9476 broad.mit.edu 37 19 50868836 50868838 + In_Frame_Del DEL GCA GCA - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr19:50868836_50868838delGCA ENST00000253719.2 - 1 249_251 c.41_43delTGC c.(40-45)cct>c p.LP14del NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron NM_004851.1 NP_004842.1 O96009 NAPSA_HUMAN napsin A aspartic peptidase 14 proteolysis extracellular region aspartic-type endopeptidase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3) 12 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183) TTcagcagaggcagcagcagcag 0.596 7 189 --- --- --- --- CTD-2245F17.3 0 broad.mit.edu 37 19 53703989 53703990 + RNA INS - - C TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr19:53703989_53703990insC ENST00000597550.1 + 0 232 TTGTTCTGTTTCCCCCtttttt 0.470 9 53 --- --- --- --- LILRB2 0 broad.mit.edu 37 19 54780707 54780709 + In_Frame_Del DEL GAG GAG - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr19:54780707_54780709delGAG ENST00000391748.1 - 10 1559_1561 c.1432_1434delCTC c.(1432-1434)del p.L478del LILRB2_ENST00000314446.5_In_Frame_Del_p.L478del|LILRB2_ENST00000434421.1_In_Frame_Del_p.L363del|LILRB2_ENST00000391749.4_In_Frame_Del_p.L479del|LILRB2_ENST00000391746.1_In_Frame_Del_p.L479del NM_001278403.1 NP_001265332.1 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 479 cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity p.L479L(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 44 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) ggatgaggaagaggaggaggagg 0.611 13 630 --- --- --- --- ZNF579 163033 broad.mit.edu 37 19 56089908 56089909 + In_Frame_Ins INS - - CCG rs141478862 by1000genomes TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr19:56089908_56089909insCCG ENST00000325421.4 - 2 1125_1126 c.1097_1098insCGG c.(1096-1098)gca>gCGGca p.366_366A>AA NM_152600.2 NP_689813.2 Q8NAF0 ZN579_HUMAN zinc finger protein 579 366 Gly-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G366_Q367insG(1) endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.106) CTCCGTTCTGCCCTTCTCCCCC 0.748 13 21 --- --- --- --- SYNDIG1 79953 broad.mit.edu 37 20 24524183 24524185 + In_Frame_Del DEL GGA GGA - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr20:24524183_24524185delGGA ENST00000376862.3 + 2 1083_1085 c.450_452delGGA c.(448-453)gtg>gt p.VE150del NM_024893.1 NP_079169.1 Q9H7V2 SYNG1_HUMAN synapse differentiation inducing 1 150 response to biotic stimulus early endosome membrane|integral to membrane|plasma membrane breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3) 24 CCTACGATGTGGAGGAGGAGGAG 0.547 12 754 --- --- --- --- KIF3B 9371 broad.mit.edu 37 20 30898763 30898765 + In_Frame_Del DEL GAG GAG - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr20:30898763_30898765delGAG ENST00000375712.3 + 2 1350_1352 c.1183_1185delGAG c.(1183-1185)del p.E399del KIF3B_ENST00000418717.2_Intron NM_004798.3 NP_004789.1 O15066 KIF3B_HUMAN kinesin family member 3B 399 Poly-Glu. anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 36 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) GGGTGGggaagaggaggaggagg 0.571 7 251 --- --- --- --- NCOA6 23054 broad.mit.edu 37 20 33330968 33330970 + In_Frame_Del DEL TGC TGC - rs140426729 byFrequency TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr20:33330968_33330970delTGC ENST00000374796.2 - 12 5660_5662 c.3090_3092delGCA c.(3088-3093)caa>ca p.QQ1030del NCOA6_ENST00000359003.2_In_Frame_Del_p.QQ1030del Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 1030 CREBBP-binding region.|Gln-rich.|NCOA1-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 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 CATCATTtgttgctgctgctgct 0.576 11 553 --- --- --- --- DDX27 55661 broad.mit.edu 37 20 47858504 47858504 + Frame_Shift_Del DEL A A - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr20:47858504delA ENST00000371764.4 + 17 2074 c.2065delA c.(2065-2067)aafs p.K691fs ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000469991.1_Intron|DDX27_ENST00000484427.1_3'UTR 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 12 473 --- --- --- --- DIDO1 11083 broad.mit.edu 37 20 61537401 61537402 + Frame_Shift_Ins INS - - T rs140153728 TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr20:61537401_61537402insT ENST00000266070.4 - 6 1750_1751 c.1425_1426insA c.(1423-1428)aaagacfs p.D476fs DIDO1_ENST00000266071.5_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000395335.2_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000395343.1_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000370368.1_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000395340.1_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000370366.1_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000370371.4_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000354665.4_Frame_Shift_Ins_p.D476fs NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 476 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) ACTGTGGTCTCTTTTTTTTCTG 0.490 9 694 --- --- --- --- ANKRD20A11P 0 broad.mit.edu 37 21 15343608 15343609 + RNA INS - - A TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr21:15343608_15343609insA ENST00000344693.5 - 0 736 NR_027270.1 TAAAACAGCAGAAAAAATTAAT 0.272 14 405 --- --- --- --- AP001347.6 0 broad.mit.edu 37 21 15436915 15436915 + RNA DEL G G - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr21:15436915delG ENST00000428809.1 + 0 177 CCCCTGGGACGGGGGCCTTGG 0.687 9 32 --- --- --- --- PRDM15 63977 broad.mit.edu 37 21 43221415 43221417 + In_Frame_Del DEL CTG CTG - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr21:43221415_43221417delCTG ENST00000422911.1 - 25 3681_3683 c.3580_3582delCAG c.(3580-3582)del p.Q1194del PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000447207.2_In_Frame_Del_p.Q1137del|PRDM15_ENST00000269844.3_In_Frame_Del_p.Q1503del|PRDM15_ENST00000538201.1_In_Frame_Del_p.Q1157del|PRDM15_ENST00000398548.1_In_Frame_Del_p.Q1174del P57071 PRD15_HUMAN PR domain containing 15 1503 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1) 43 AGCTGTACATCTGCTGCTGCTGC 0.611 9 574 --- --- --- --- MED15 51586 broad.mit.edu 37 22 20918817 20918819 + In_Frame_Del DEL CAG CAG - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr22:20918817_20918819delCAG ENST00000263205.7 + 6 601_603 c.532_534delCAG c.(532-534)del p.Q188del MED15_ENST00000542773.1_5'UTR|MED15_ENST00000292733.7_In_Frame_Del_p.Q188del|MED15_ENST00000382974.2_In_Frame_Del_p.Q117del|MED15_ENST00000541476.1_In_Frame_Del_p.Q162del|MED15_ENST00000425759.2_In_Frame_Del_p.Q77del|MED15_ENST00000406969.1_In_Frame_Del_p.Q162del NM_001003891.1 NP_001003891.1 Q96RN5 MED15_HUMAN mediator complex subunit 15 188 Poly-Gln. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 25 all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209) ggcggcgctacagcagcagcagc 0.626 OREG0026319 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 191 --- --- --- --- MYH9 4627 broad.mit.edu 37 22 36689419 36689421 + In_Frame_Del DEL CCT CCT - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr22:36689419_36689421delCCT ENST00000216181.5 - 30 4279_4281 c.4049_4051delAGG c.(4048-4053)gcc>g p.EA1350del NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 1350 E -> EE (in Ref. 7). actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 TTGTGCTTGGCCTCCTCCTCCTC 0.650 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 11 496 --- --- --- --- TCF20 6942 broad.mit.edu 37 22 42610362 42610364 + In_Frame_Del DEL TGC TGC - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chr22:42610362_42610364delTGC ENST00000359486.3 - 1 1084_1086 c.948_950delGCA c.(946-951)caa>ca p.QQ316del TCF20_ENST00000335626.4_In_Frame_Del_p.QQ316del NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 316 Poly-Gln. 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 ttgctgcggttgctgctgctgct 0.502 8 537 --- --- --- --- TXLNG 55787 broad.mit.edu 37 X 16850849 16850850 + Frame_Shift_Del DEL AG AG - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chrX:16850849_16850850delAG ENST00000380122.5 + 6 1029_1030 c.968_969delAG c.(967-969)cfs p.Q323fs TXLNG_ENST00000398155.4_Frame_Shift_Del_p.Q191fs NM_018360.2 NP_060830.2 Q9NUQ3 TXLNG_HUMAN taxilin gamma 323 cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nuclear membrane breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 15 GAAAAACATCAGAGAGAGAGAG 0.386 9 255 --- --- --- --- NUDT11 0 broad.mit.edu 37 X 51239296 51239309 + Translation_Start_Site DEL TCCTCGAGGCAGCC TCCTCGAGGCAGCC - rs78182391 TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chrX:51239296_51239309delTCCTCGAGGCAGCC ENST00000375992.3 - 0 139_152 NM_018159.3 NP_060629.2 Q96G61 NUD11_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 11 cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding p.?(5) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2) 9 Ovarian(276;0.236) TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC 0.692 HNSCC(48;0.14) 16 22 --- --- --- --- NAP1L2 4674 broad.mit.edu 37 X 72433664 72433666 + In_Frame_Del DEL TCC TCC - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chrX:72433664_72433666delTCC ENST00000373517.3 - 1 1018_1020 c.663_665delGGA c.(661-666)gac>ga p.ED221del NAP1L2_ENST00000536638.1_In_Frame_Del_p.ED79del NM_021963.3 NP_068798.1 Q9ULW6 NP1L2_HUMAN nucleosome assembly protein 1-like 2 221 Glu-rich (acidic). nucleosome assembly chromatin assembly complex NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3) 29 Renal(35;0.156) CTCAATGTCGtcctcctcctcct 0.424 9 178 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76907782 76907784 + In_Frame_Del DEL TCC TCC - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chrX:76907782_76907784delTCC ENST00000373344.5 - 15 4591_4593 c.4377_4379delGGA c.(4375-4380)gaa>ga p.EE1463del ATRX_ENST00000395603.3_In_Frame_Del_p.EE1425del|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1463 Poly-Glu. DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) ctcctcctcttcctcctcctcct 0.389 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 7 342 --- --- --- --- IRS4 8471 broad.mit.edu 37 X 107977802 107977803 + Frame_Shift_Ins INS - - C TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chrX:107977802_107977803insC ENST00000372129.2 - 1 1848_1849 c.1772_1773insG c.(1771-1773)gaafs p.E591fs NM_003604.2 NP_003595.1 O14654 IRS4_HUMAN insulin receptor substrate 4 591 plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1) 78 CTGAGCCTTTGCCCCCCCCAGA 0.545 8 858 --- --- --- --- MAMLD1 10046 broad.mit.edu 37 X 149639325 149639327 + In_Frame_Del DEL CAG CAG - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chrX:149639325_149639327delCAG ENST00000370401.2 + 4 1790_1792 c.1480_1482delCAG c.(1480-1482)del p.Q502del MAMLD1_ENST00000455522.2_5'UTR|MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q502del Q13495 MAMD1_HUMAN mastermind-like domain containing 1 502 Poly-Gln. male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus p.Q469Q(1)|p.Q494Q(1)|p.Q421Q(1) breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2) 37 Acute lymphoblastic leukemia(192;6.56e-05) AAGCcagcaacagcagcagcagc 0.532 8 254 --- --- --- --- MAGEA10 4109 broad.mit.edu 37 X 151303906 151303908 + In_Frame_Del DEL AGG AGG - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chrX:151303906_151303908delAGG ENST00000370323.4 - 4 501_503 c.185_187delCCT c.(184-189)tgc>t p.SC62del RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_In_Frame_Del_p.SC62del NM_001251828.1|NM_021048.4 NP_001238757.1|NP_066386.2 P43363 MAGAA_HUMAN melanoma antigen family A, 10 62 Poly-Ser. endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) AGAGGATAGCaggaggaggagga 0.562 7 354 --- --- --- --- F8 2157 broad.mit.edu 37 X 154157686 154157686 + Frame_Shift_Del DEL T T - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chrX:154157686delT ENST00000360256.4 - 14 4579 c.4379delA c.(4378-4380)atfs p.N1461fs NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 1461 B. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding p.N1460fs*5(2)|p.N1460fs*2(2) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) AGAAAGGTTATTTTTTTTGGC 0.413 12 370 --- --- --- --- RBMY2EP 0 broad.mit.edu 37 Y 23563322 23563323 + RNA DEL AC AC - TCGA-F2-6880-01A-11D-2154-08 TCGA-F2-6880-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx abb64051-bd31-4193-a4ca-009b51dabe87 3ec70900-b1b6-4ed4-8be1-9c6bb1480b84 g.chrY:23563322_23563323delAC ENST00000444169.1 - 0 86 NR_001574.2 ATATGAAAATacacacacacac 0.302 9 92 --- --- --- ---