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 RIMS1 0 broad.mit.edu 37 6 72806839 72806839 + Missense_Mutation SNP G G C TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr6:72806839G>C ENST00000264839.7 + 3 433 c.433G>C c.(433-435)Ggc>Cgc p.G145R RIMS1_ENST00000521978.1_Missense_Mutation_p.G145R|RIMS1_ENST00000517960.1_Missense_Mutation_p.G145R|RIMS1_ENST00000348717.5_Missense_Mutation_p.G145R|RIMS1_ENST00000518273.1_Missense_Mutation_p.G145R|RIMS1_ENST00000522291.1_Missense_Mutation_p.G145R|RIMS1_ENST00000491071.2_Missense_Mutation_p.G145R|RIMS1_ENST00000520567.1_Missense_Mutation_p.G145R Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 145 RabBD. calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 102 all_epithelial(107;0.179)|all_hematologic(105;0.212) GCGCTGCGGAGGCCGCGTGTC 0.483000 35 217 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625875 29625875 + Missense_Mutation SNP T T C rs143761036 by1000genomes TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr20:29625875T>C ENST00000278882.3 + 5 499 c.119T>C c.(118-120)aTc>aCc p.I40T FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T p.I40T(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGTACAGAATCGCCCTGAAA 0.358000 21 551 0 0 1 0 0 SPEN 23013 broad.mit.edu 37 1 16264319 16264319 + Missense_Mutation SNP G G A TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr1:16264319G>A ENST00000375759.3 + 13 10726 c.10522G>A c.(10522-10524)Gtg>Atg p.V3508M NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 3508 SPOC. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) GTACCCCATCGTGTGGCAGGG 0.597000 112 514 0 0 1 0 0 TRBV6-7 0 broad.mit.edu 37 7 142143906 142143906 + RNA SNP G G C rs146728507 by1000genomes TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr7:142143906G>C ENST00000390373.2 - 0 89 TCTTCAGGACGTGGAATTTTG 0.527000 16 530 0 0 1 0 0 SNHG12 0 broad.mit.edu 37 1 28907105 28907105 + RNA SNP C C T TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr1:28907105C>T ENST00000488745.1 - 0 1066 SNHG12_ENST00000475441.1_RNA|SNHG12_ENST00000531126.1_RNA|SNHG12_ENST00000483436.1_RNA GTCATTACCCCGGAAGTCCTC 0.463000 15 139 0 0 1 0 0 EFTUD1 79631 broad.mit.edu 37 15 82551447 82551447 + Silent SNP G G A TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr15:82551447G>A ENST00000268206.7 - 3 309 c.141C>T c.(139-141)tcC>tcT p.S47S EFTUD1_ENST00000359445.3_Intron NM_024580.5 NP_078856.4 Q7Z2Z2 ETUD1_HUMAN elongation factor Tu GTP binding domain containing 1 47 mature ribosome assembly GTP binding|GTPase activity|ribosome binding|translation elongation factor activity cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 CTAGGCGGCTGGAGATGATTC 0.343000 10 494 0 0 1 0 0 KRTAP4-7 100132476 broad.mit.edu 37 17 39240627 39240627 + Missense_Mutation SNP T T C rs139671425 by1000genomes TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr17:39240627T>C ENST00000391417.4 + 1 169 c.169T>C c.(169-171)Tct>Cct p.S57P NM_033061.3 NP_149050.3 keratin associated protein 4-7 p.S57P(4) NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1) 9 GTGCTGCCAGTCTGTGTGCTG 0.667000 9 343 0 0 1 0 0 SLC13A4 26266 broad.mit.edu 37 7 135392895 135392895 + Missense_Mutation SNP C C T TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr7:135392895C>T ENST00000354042.4 - 3 1021 c.332G>A c.(331-333)cGc>cAc p.R111H AC091736.10_ENST00000378428.3_RNA NM_012450.2 NP_036582.2 Q9UKG4 S13A4_HUMAN solute carrier family 13 (sodium/sulfate symporter), member 4 111 integral to plasma membrane sodium:sulfate symporter activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2) 24 CAAGACCATGCGCAGAGCAAT 0.592000 175 736 0 0 1 0 0 TBCK 93627 broad.mit.edu 37 4 107168383 107168383 + Missense_Mutation SNP G G A TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr4:107168383G>A ENST00000273980.4 - 11 1291 c.844C>T c.(844-846)Ccc>Tcc p.P282S TBCK_ENST00000361687.4_Missense_Mutation_p.P219S|TBCK_ENST00000394708.2_Missense_Mutation_p.P282S|TBCK_ENST00000394706.3_Missense_Mutation_p.P243S|TBCK_ENST00000432496.2_Missense_Mutation_p.P282S Q8TEA7 TBCK_HUMAN TBC1 domain containing kinase 282 intracellular Rab GTPase activator activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1) 25 TTGGTAAAGGGGGTATATAAA 0.378000 36 289 0 0 1 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33546294 33546294 + Missense_Mutation SNP C C G TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr5:33546294C>G ENST00000504830.1 - 22 4651 c.4316G>C c.(4315-4317)tGt>tCt p.C1439S ADAMTS12_ENST00000352040.3_Missense_Mutation_p.C1354S NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 1439 TSP type-1 7. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 TCCACCTCCACAGGACCTGGA 0.468000 HNSCC(64;0.19) 33 168 0 0 1 0 0 ATF6B 1388 broad.mit.edu 37 6 32093957 32093957 + Missense_Mutation SNP C C T TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr6:32093957C>T ENST00000375201.4 - 5 451 c.406G>A c.(406-408)Gac>Aac p.D136N ATF6B_ENST00000375203.3_Missense_Mutation_p.D139N|ATF6B_ENST00000468502.1_5'UTR Q99941 ATF6B_HUMAN activating transcription factor 6 beta 139 response to unfolded protein|signal transduction endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1) 22 GATGTTGGGTCATCTCCCAGG 0.552000 34 422 0 0 1 0 0 ESPNP 0 broad.mit.edu 37 1 17023143 17023143 + RNA SNP C C T rs559507 by1000genomes TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr1:17023143C>T ENST00000492551.1 - 0 1720 NR_026567.1 TGTGGGGCTCCGGACTGGTAA 0.692000 21 100 0 0 1 0 0 WDR17 116966 broad.mit.edu 37 4 177100716 177100716 + Missense_Mutation SNP C C T TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr4:177100716C>T ENST00000393643.2 + 30 4135 c.3883C>T c.(3883-3885)Ctc>Ttc p.L1295F WDR17_ENST00000507824.2_Missense_Mutation_p.L1294F|WDR17_ENST00000280190.4_Missense_Mutation_p.L1319F|WDR17_ENST00000508596.1_Missense_Mutation_p.L1280F NM_170710.4 NP_733828.2 Q8IZU2 WDR17_HUMAN WD repeat domain 17 1319 A -> T (in dbSNP:rs11736872). breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 92 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) TGGAATACGACTCAATCCATT 0.368000 75 420 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628283 29628283 + Silent SNP G G C TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr20:29628283G>C ENST00000278882.3 + 6 665 c.285G>C c.(283-285)ggG>ggC p.G95G FRG1B_ENST00000358464.4_Silent_p.G95G|FRG1B_ENST00000439954.2_Silent_p.G100G p.G95G(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGAAGCAGGGGACATAGAAG 0.378000 21 638 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 10 334 0 0 1 0 0 CEP112 201134 broad.mit.edu 37 17 64092738 64092738 + Nonsense_Mutation SNP G G A TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr17:64092738G>A ENST00000392769.2 - 7 873 c.655C>T c.(655-657)Cga>Tga p.R219* CEP112_ENST00000537949.1_Intron|CEP112_ENST00000535342.2_Nonsense_Mutation_p.R219* NM_145036.3 NP_659473.2 Q8N8E3 CE112_HUMAN centrosomal protein 112kDa 219 centrosome NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 28 CTCAGGTATCGAGGATTTTCT 0.279000 19 252 0 0 1 0 0 TTBK2 146057 broad.mit.edu 37 15 43044234 43044234 + Silent SNP C C T TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr15:43044234C>T ENST00000267890.6 - 14 3318 c.3210G>A c.(3208-3210)tcG>tcA p.S1070S NM_173500.3 NP_775771.3 Q6IQ55 TTBK2_HUMAN tau tubulin kinase 2 1070 cell death ATP binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 43 all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;3.23e-07) AGAACTGAGACGAAGTTGAGC 0.493000 116 476 0 0 1 0 0 RIMS4 140730 broad.mit.edu 37 20 43400046 43400046 + Missense_Mutation SNP G G A TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr20:43400046G>A ENST00000372851.3 - 2 172 c.106C>T c.(106-108)Cgg>Tgg p.R36W RIMS4_ENST00000541604.2_Missense_Mutation_p.R37W NM_001205317.1|NM_182970.3 NP_001192246.1|NP_892015.1 Q9H426 RIMS4_HUMAN regulating synaptic membrane exocytosis 4 36 exocytosis|neurotransmitter transport cell junction|synapse p.R36W(1) central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1) 29 Myeloproliferative disorder(115;0.0122) TTCAGCCTCCGGCTGTCCCCT 0.622000 25 558 0 0 1 0 0 EMR4P 0 broad.mit.edu 37 19 6974579 6974579 + RNA SNP C C T TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr19:6974579C>T ENST00000600751.1 - 0 803 NR_024075.1 CCGCTCACAACGTAAGAGTTC 0.448000 9 54 0 0 1 0 0 FAM171B 165215 broad.mit.edu 37 2 187559053 187559053 + Silent SNP A A G rs2370706 TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr2:187559053A>G ENST00000304698.5 + 1 356 c.153A>G c.(151-153)caA>caG p.Q51Q AC017101.10_ENST00000453665.1_RNA NM_177454.3 NP_803237.3 Q6P995 F171B_HUMAN family with sequence similarity 171, member B 51 Gln-rich. integral to membrane DNA binding NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 agcagcaacaacaacaacaac 0.632000 6 107 0 0 1 0 0 RP11-24M17.5 0 broad.mit.edu 37 15 76074470 76074470 + RNA SNP A A G TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr15:76074470A>G ENST00000395215.3 + 0 649 p.Q203R(4) CGGTTACAGCAGACCATAAAG 0.577000 9 145 0 0 1 0 0 ATAD2B 54454 broad.mit.edu 37 2 23977530 23977530 + Missense_Mutation SNP C C T TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr2:23977530C>T ENST00000238789.5 - 26 4536 c.4193G>A c.(4192-4194)cGt>cAt p.R1398H ATAD2B_ENST00000474583.1_5'UTR NM_001242338.1|NM_017552.2 NP_001229267.1|NP_060022.1 Q9ULI0 ATD2B_HUMAN ATPase family, AAA domain containing 2B 1398 ATP binding|nucleoside-triphosphatase activity central_nervous_system(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CAATCTCTCACGATCAACTAT 0.403000 21 317 0 0 1 0 0 ICA1 3382 broad.mit.edu 37 7 8258081 8258081 + Missense_Mutation SNP G G A TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr7:8258081G>A ENST00000402384.3 - 6 699 c.433C>T c.(433-435)Cgg>Tgg p.R145W ICA1_ENST00000265577.7_Missense_Mutation_p.R144W|ICA1_ENST00000407906.1_Missense_Mutation_p.R145W|ICA1_ENST00000476942.1_5'UTR|ICA1_ENST00000422063.2_Missense_Mutation_p.R145W|ICA1_ENST00000401396.1_Missense_Mutation_p.R133W|ICA1_ENST00000406470.2_Missense_Mutation_p.R145W|ICA1_ENST00000396675.3_Missense_Mutation_p.R145W Q05084 ICA69_HUMAN islet cell autoantigen 1, 69kDa 145 AH. neurotransmitter transport cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane 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) GCCCGATGCCGAAAAGTCTCC 0.483000 68 341 0 0 1 0 0 NPIPB11 728888 broad.mit.edu 37 16 29415043 29415043 + Silent SNP G G A TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr16:29415043G>A ENST00000524087.1 - 2 155 c.81C>T c.(79-81)caC>caT p.H27H SNX29P2_ENST00000398878.3_lincRNA nuclear pore complex interacting protein family, member B11 p.H27H(24) CTGACTTTACGTGCTGCTGCA 0.577000 3 58 0 0 1 0 0 PROX1 5629 broad.mit.edu 37 1 214170479 214170479 + Nonsense_Mutation SNP C C T TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr1:214170479C>T ENST00000366958.4 + 2 1209 c.601C>T c.(601-603)Cga>Tga p.R201* PROX1_ENST00000498508.2_Nonsense_Mutation_p.R201*|PROX1_ENST00000261454.4_Nonsense_Mutation_p.R201*|PROX1_ENST00000435016.1_Nonsense_Mutation_p.R201* NM_001270616.1 NP_001257545.1 Q92786 PROX1_HUMAN prospero homeobox 1 201 aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis cytoplasm|nucleus DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4) 47 OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219) TGTGAGTCCCCGAGAAAGTTA 0.502000 11 404 0 0 1 0 0 C7orf33 202865 broad.mit.edu 37 7 148288176 148288176 + Silent SNP C C T TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr7:148288176C>T ENST00000307003.2 + 1 520 c.159C>T c.(157-159)ggC>ggT p.G53G NM_145304.2 NP_660347.1 Q8WU49 CG033_HUMAN chromosome 7 open reading frame 33 53 p.G53G(1) central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2) 14 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00291) ACGTTAGGGGCGGTCCAGGTC 0.512000 84 500 0 0 1 0 0 TRPC7 57113 broad.mit.edu 37 5 135692812 135692812 + Silent SNP G G A TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr5:135692812G>A ENST00000513104.1 - 2 546 c.264C>T c.(262-264)aaC>aaT p.N88N TRPC7_ENST00000355180.3_Silent_p.N88N|TRPC7_ENST00000426057.2_Silent_p.N88N NM_020389.2 NP_065122.1 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, subfamily C, member 7 88 axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3) 46 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CTAGGTGCTCGTTGCCCACGG 0.607000 98 546 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414346 20414346 + Silent SNP G G A TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr9:20414346G>A ENST00000380338.4 - 5 784 c.498C>T c.(496-498)agC>agT p.S166S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 166 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S166S(4) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctactgctgctgctgc 0.527000 T MLL ALL 10 388 0 0 1 0 0 LRP10 26020 broad.mit.edu 37 14 23346384 23346384 + Missense_Mutation SNP G G T TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr14:23346384G>T ENST00000359591.4 + 7 2481 c.1790G>T c.(1789-1791)gGt>gTt p.G597V LRP10_ENST00000470660.1_Intron|LRP10_ENST00000546834.1_Intron NM_014045.3 NP_054764.2 Q7Z4F1 LRP10_HUMAN low density lipoprotein receptor-related protein 10 597 endocytosis coated pit|integral to membrane central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2) 32 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.00549) GGTGGCACAGGTCCAGCCCGT 0.672000 78 316 4.49761e-31 4.91278e-31 1 1 0 AC008103.5 0 broad.mit.edu 37 22 18844766 18844766 + RNA SNP G G A TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr22:18844766G>A ENST00000412938.1 + 0 3016 CAGCCTCTGAGGGCAGCAGTG 0.557000 12 63 0 0 1 0 0 TRIM49C 642612 broad.mit.edu 37 11 89774252 89774252 + Missense_Mutation SNP G G A rs145791878 by1000genomes TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr11:89774252G>A ENST00000448984.1 + 8 1222 c.893G>A c.(892-894)aGt>aAt p.S298N TRIM49C_ENST00000432771.1_Intron NM_001195234.1 NP_001182163.1 P0CI26 T49L2_HUMAN tripartite motif containing 49C 298 B30.2/SPRY. intracellular zinc ion binding p.S298N(4) endometrium(3)|kidney(1)|lung(4) 8 GAAGCCAACAGTGATATCTTT 0.323000 9 183 0 0 1 0 0 TUBBP5 0 broad.mit.edu 37 9 141070139 141070139 + RNA SNP C C T rs143443709 by1000genomes TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr9:141070139C>T ENST00000503395.1 + 0 1219 p.L85F(2) CGGGCAGGTCCTCAGGCCAGA 0.667000 16 452 0 0 1 0 0 FZD10 11211 broad.mit.edu 37 12 130648005 130648005 + Missense_Mutation SNP G G A TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr12:130648005G>A ENST00000229030.4 + 1 1002 c.518G>A c.(517-519)cGg>cAg p.R173Q FZD10_ENST00000539839.1_Silent_p.A140A Q9ULW2 FZD10_HUMAN frizzled family receptor 10 173 brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development cell projection|cell surface|cytoplasm|integral to plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1) 35 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05) CGGCCGCAGCGGCCCCACAGC 0.726000 21 188 0 0 1 0 0 SLIT1 6585 broad.mit.edu 37 10 98763971 98763971 + Missense_Mutation SNP G G A TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr10:98763971G>A ENST00000266058.4 - 34 3964 c.3719C>T c.(3718-3720)aCg>aTg p.T1240M ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.T1240M NM_003061.2 NP_003052.2 O75093 SLIT1_HUMAN slit homolog 1 (Drosophila) 1240 Laminin G-like. axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space calcium ion binding|Roundabout binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 78 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) ATCGTTGATCGTCTCAGCACT 0.567000 38 944 0 0 1 0 0 NFRKB 4798 broad.mit.edu 37 11 129753985 129753985 + Missense_Mutation SNP C C T TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr11:129753985C>T ENST00000446488.3 - 7 899 c.796G>A c.(796-798)Gag>Aag p.E266K NFRKB_ENST00000524794.1_Missense_Mutation_p.E291K|NFRKB_ENST00000524746.1_Missense_Mutation_p.E266K|NFRKB_ENST00000304521.5_Missense_Mutation_p.E266K NM_001143835.1 NP_001137307.1 Q6P4R8 NFRKB_HUMAN nuclear factor related to kappaB binding protein 266 DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Ino80 complex DNA binding|protease binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1) 32 all_hematologic(175;0.0537) Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184) TTCCGCTTCTCGTGGTGCTTC 0.473000 139 818 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128812 45128812 + RNA SNP C C T TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr17:45128812C>T ENST00000575173.1 - 0 418 AGTCCTGTTTCTGTGTGGATT 0.373000 11 230 0 0 1 0 0 RASL10B 91608 broad.mit.edu 37 17 34062239 34062239 + Silent SNP G G A TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr17:34062239G>A ENST00000268864.3 + 2 413 c.36G>A c.(34-36)gcG>gcA p.A12A NM_033315.3 NP_201572.1 Q96S79 RSLAB_HUMAN RAS-like, family 10, member B 12 Small GTPase-like. small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity breast(2)|endometrium(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 10 UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) TGCTGGGGGCGCGAGGTGTGG 0.682000 56 260 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228475547 228475547 + Missense_Mutation SNP C C T TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr1:228475547C>T ENST00000570156.2 + 41 11058 c.10984C>T c.(10984-10986)Cgc>Tgc p.R3662C OBSCN_ENST00000422127.1_Missense_Mutation_p.R3233C|OBSCN_ENST00000284548.11_Missense_Mutation_p.R3233C|OBSCN_ENST00000366709.4_Missense_Mutation_p.R352C|OBSCN_ENST00000366707.4_Missense_Mutation_p.R352C|OBSCN_ENST00000359599.6_Missense_Mutation_p.R2080C NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 2695 Ig-like 37. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) ATACAGCCTACGCCAGGAGGG 0.622000 28 320 0 0 1 0 0 P2RY4 5030 broad.mit.edu 37 X 69478725 69478725 + Silent SNP C C A TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chrX:69478725C>A ENST00000374519.2 - 1 929 c.750G>T c.(748-750)gtG>gtT p.V250V NM_002565.3 NP_002556.1 P51582 P2RY4_HUMAN pyrimidinergic receptor P2Y, G-protein coupled, 4 250 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled cervix(2)|endometrium(2)|large_intestine(8)|lung(6) 18 AGACAGTCAGCACCACAGCTA 0.557000 38 219 1.30998e-17 1.40922e-17 1 1 0 CCDC74B 91409 broad.mit.edu 37 2 130897920 130897920 + Silent SNP G G A TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr2:130897920G>A ENST00000392984.3 - 4 1757 c.1014C>T c.(1012-1014)aaC>aaT p.N338N CCDC74B_ENST00000409943.3_Silent_p.N170N|CCDC74B_ENST00000310463.6_Silent_p.N236N Q96LY2 CC74B_HUMAN coiled-coil domain containing 74B 236 endometrium(2)|large_intestine(1)|lung(3) 6 Colorectal(110;0.1) CAGCTCCTGCGTTAGAGGCCT 0.627000 10 481 0 0 1 0 0 FRMPD1 22844 broad.mit.edu 37 9 37708488 37708488 + Missense_Mutation SNP G G A TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr9:37708488G>A ENST00000539465.1 + 4 945 c.352G>A c.(352-354)Gat>Aat p.D118N RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.D118N Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 118 PDZ. cytoskeleton|cytosol|plasma membrane NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GBM - Glioblastoma multiforme(29;0.00655) ACGAGCAGTCGATATTCTCAG 0.463000 72 319 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145296373 145296373 + Missense_Mutation SNP G G T rs3969711 TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr1:145296373G>T ENST00000342960.5 + 3 330 c.295G>T c.(295-297)Gtt>Ttt p.V99F NBPF10_ENST00000369339.2_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 99 p.V99F(1) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) TAAAGTCCTAGTTCACTCTCA 0.473000 13 386 1.50039e-11 1.56658e-11 1 1 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587730 43587730 + RNA SNP A A C rs142536398 by1000genomes TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr17:43587730A>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA GTATTGATTCATTTTATTCAT 0.343000 8 340 0 0 1 0 0 FERMT1 55612 broad.mit.edu 37 20 6078257 6078257 + Missense_Mutation SNP G G C TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr20:6078257G>C ENST00000217289.4 - 7 1659 c.871C>G c.(871-873)Caa>Gaa p.Q291E FERMT1_ENST00000536936.1_Missense_Mutation_p.Q34E NM_017671.4 NP_060141.3 Q9BQL6 FERM1_HUMAN fermitin family member 1 291 FERM. cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation cytosol|focal adhesion|ruffle membrane binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2) 17 TCATAGAGTTGGTTTATTCGG 0.403000 93 441 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128792 45128792 + RNA SNP G G T rs143713325 by1000genomes TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr17:45128792G>T ENST00000575173.1 - 0 418 AATTCAGGTTGTCAGAATGCA 0.373000 11 296 0.000673444 0.000683065 1 1 0 TRBV6-7 0 broad.mit.edu 37 7 142143879 142143879 + RNA SNP A A T rs149184848 by1000genomes TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr7:142143879A>T ENST00000390373.2 - 0 116 CACACAGCAGAGTCATGCTCT 0.507000 18 590 0 0 1 0 0 LINC00264 0 broad.mit.edu 37 10 26880338 26880338 + RNA SNP G G C rs3118888 by1000genomes TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr10:26880338G>C ENST00000412114.1 + 0 573 NR_026793.1 GCTGAAACATGGAAGGTAAAA 0.483000 9 213 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195400788 195400788 + RNA SNP G G A TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr3:195400788G>A ENST00000445430.1 + 0 1384 CCGCCTCGGGGCAAACTCGCT 0.602000 7 237 0 0 1 0 0 CCT6P1 0 broad.mit.edu 37 7 65222986 65222986 + RNA SNP G G T TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr7:65222986G>T ENST00000442266.1 + 0 578 GAATTCTGGCGTTTTTTACAA 0.289000 5 99 7.48243e-07 7.64392e-07 1 1 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000348295.3_Silent_p.S343S NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 10 330 0 0 1 0 0 STYX 6815 broad.mit.edu 37 14 53235556 53235556 + Splice_Site SNP A A T TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr14:53235556A>T ENST00000354586.4 + 10 797 c.e10-1 STYX_ENST00000442123.2_Splice_Site|STYX_ENST00000556861.1_Intron NM_145251.3 NP_660294.1 Q8WUJ0 STYX_HUMAN serine/threonine/tyrosine interacting protein protein dephosphorylation|spermatogenesis cytoplasm protein tyrosine/serine/threonine phosphatase activity endometrium(1)|kidney(1)|large_intestine(2)|lung(1) 5 Breast(41;0.176) ttttttttttaGGAATATGAA 0.303000 9 381 0 0 1 0 0 DNM1P47 0 broad.mit.edu 37 15 102293002 102293002 + RNA SNP G G C TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr15:102293002G>C ENST00000561463.1 + 0 1048 GCACTCGCGTGGGAACAAGAA 0.592000 7 29 0 0 1 0 0 TAOK2 9344 broad.mit.edu 37 16 29990391 29990391 + Splice_Site SNP G G C TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr16:29990391G>C ENST00000308893.4 + 6 1492 c.449_splice c.e6+1 p.R150_splice TAOK2_ENST00000279394.3_Splice_Site_p.R150_splice|TAOK2_ENST00000543033.1_Splice_Site_p.R150_splice NM_001252043.1|NM_016151.3 NP_001238972.1|NP_057235.2 Q9UL54 TAOK2_HUMAN TAO kinase 2 150 Protein kinase. 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 ATGATCCATAGGTACAAGCAG 0.582000 123 464 0 0 1 0 0 OR6Y1 391112 broad.mit.edu 37 1 158517227 158517227 + Silent SNP G G A TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr1:158517227G>A ENST00000302617.3 - 1 668 c.669C>T c.(667-669)taC>taT p.Y223Y NM_001005189.1 NP_001005189.1 Q8NGX8 OR6Y1_HUMAN olfactory receptor, family 6, subfamily Y, member 1 223 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 all_hematologic(112;0.0378) GGATAGCAGCGTAGGATGCCA 0.537000 56 346 0 0 1 0 0 OR5D14 219436 broad.mit.edu 37 11 55563781 55563781 + Silent SNP C C T TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr11:55563781C>T ENST00000335605.1 + 1 750 c.750C>T c.(748-750)atC>atT p.I250I NM_001004735.1 NP_001004735.1 Q8NGL3 OR5DE_HUMAN olfactory receptor, family 5, subfamily D, member 14 250 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1) 48 all_epithelial(135;0.196) TGACTTCTATCACCATCTTCC 0.453000 23 514 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522772 95522772 + RNA SNP T T C TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr2:95522772T>C ENST00000432432.2 - 0 255 NR_040113.1 p.E49G(1) GCGCTCCACCTCCGCGGCGTC 0.682000 10 334 0 0 1 0 0 GSN 2934 broad.mit.edu 37 9 124062285 124062285 + Splice_Site SNP T T G TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr9:124062285T>G ENST00000373818.4 + 1 213 c.e1+2 GSN_ENST00000373823.3_Intron|GSN_ENST00000449733.1_Intron|GSN_ENST00000412819.1_Intron|GSN_ENST00000394353.2_Intron|GSN_ENST00000341272.2_Intron|GSN_ENST00000545652.1_Intron|GSN_ENST00000373808.2_Intron|GSN_ENST00000436847.1_Intron NM_000177.4|NM_001258029.1 NP_000168.1|NP_001244958.1 P06396 GELS_HUMAN gelsolin actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis actin cytoskeleton|cytosol actin binding|calcium ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1) 21 gaggcgcgggtgagtgcccgg 0.697000 34 91 0 0 1 0 0 ESPNP 0 broad.mit.edu 37 1 17023110 17023110 + RNA SNP G G A rs11260887 by1000genomes TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr1:17023110G>A ENST00000492551.1 - 0 1753 NR_026567.1 GTTGAGCAGCGGCTGAAACCC 0.687000 20 92 0 0 1 0 0 ZSWIM2 151112 broad.mit.edu 37 2 187698677 187698677 + Missense_Mutation SNP C C T TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr2:187698677C>T ENST00000295131.2 - 6 863 c.824G>A c.(823-825)cGt>cAt p.R275H NM_182521.2 NP_872327.2 Q8NEG5 ZSWM2_HUMAN zinc finger, SWIM-type containing 2 275 apoptosis zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1) 52 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164) CTGTACCTCACGAAATGTAAA 0.363000 24 210 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179594553 179594553 + Missense_Mutation SNP C C T TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr2:179594553C>T ENST00000589042.1 - 63 18651 c.18427G>A c.(18427-18429)Ggg>Agg p.G6143R TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G4899R|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.G5826R NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5826 Ig-like 42. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATTTCATTCCCGTCTAGATAC 0.433000 7 287 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625885 29625885 + Missense_Mutation SNP A A T TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr20:29625885A>T ENST00000278882.3 + 5 509 c.129A>T c.(127-129)aaA>aaT p.K43N FRG1B_ENST00000358464.4_Missense_Mutation_p.K43N|FRG1B_ENST00000439954.2_Missense_Mutation_p.K48N p.K43N(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TCGCCCTGAAATCTGGCTATG 0.353000 14 601 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18844888 18844888 + RNA SNP A A G TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr22:18844888A>G ENST00000412938.1 + 0 3138 GCTCACGGAAATACAGCTTCA 0.587000 12 285 0 0 1 0 0 HLA-F-AS1 0 broad.mit.edu 37 6 29713370 29713370 + RNA SNP G G A rs2076175 byFrequency TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr6:29713370G>A ENST00000458236.1 - 0 228 CACTGTCCCCGGGGCCCTGCC 0.602000 4 143 0 0 1 0 0 SPATA31D1 389763 broad.mit.edu 37 9 84605871 84605871 + Silent SNP G G A TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr9:84605871G>A ENST00000344803.2 + 4 533 c.486G>A c.(484-486)tcG>tcA p.S162S NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 TGGCTTCTTCGGCTTCTGCGA 0.562000 84 397 0 0 1 0 0 HLA-DQB2 3120 broad.mit.edu 37 6 32726774 32726774 + Missense_Mutation SNP C C T TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr6:32726774C>T ENST00000435145.2 - 3 560 c.499G>A c.(499-501)Gcc>Acc p.A167T HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.A167T|HLA-DQB2_ENST00000411527.1_Missense_Mutation_p.A167T Q5SR06 Q5SR06_HUMAN major histocompatibility complex, class II, DQ beta 2 167 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response integral to membrane|MHC class II protein complex p.A167T(1) endometrium(1)|kidney(1)|lung(1)|prostate(2) 5 ACAACACCGGCTGTCTCCTCC 0.542000 24 252 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr12:25398284C>T ENST00000311936.3 - 2 226 c.35G>A c.(34-36)gGt>gAt p.G12D KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 7 76 0 0 1 0 0 PCDHB8 0 broad.mit.edu 37 5 140559743 140559743 + Missense_Mutation SNP G G A rs142723933 byFrequency TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr5:140559743G>A ENST00000239444.2 + 1 2373 c.2128G>A c.(2128-2130)Gtg>Atg p.V710M NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 710 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCTCCTGTTCGTGGCGGTGCT 0.677000 82 897 0 0 1 0 0 RP11-24M17.5 0 broad.mit.edu 37 15 76074431 76074431 + RNA SNP C C T rs149323153 by1000genomes TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr15:76074431C>T ENST00000395215.3 + 0 610 p.S190L(2) CTCCAGTCCTCGAGCTGCAGA 0.547000 13 141 0 0 1 0 0 SPAM1 0 broad.mit.edu 37 7 123593723 123593723 + Silent SNP C C T TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr7:123593723C>T ENST00000340011.5 + 3 456 c.99C>T c.(97-99)tgC>tgT p.C33C SPAM1_ENST00000460182.1_Silent_p.C33C|SPAM1_ENST00000402183.2_Silent_p.C33C|SPAM1_ENST00000439500.1_Silent_p.C33C|SPAM1_ENST00000223028.7_Silent_p.C33C NM_003117.4 NP_003108.2 P38567 HYALP_HUMAN sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) 33 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 Hyaluronidase(DB00070) TTCCATGTTGCTTGACTCTGA 0.413000 55 237 0 0 1 0 0 DNHD1 144132 broad.mit.edu 37 11 6592936 6592936 + Missense_Mutation SNP C C T TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr11:6592936C>T ENST00000254579.6 + 43 14546 c.13982C>T c.(13981-13983)gCg>gTg p.A4661V DNHD1_ENST00000527990.2_Missense_Mutation_p.A4661V NM_144666.2 NP_653267.2 Q96M86 DNHD1_HUMAN dynein heavy chain domain 1 4661 microtubule-based movement dynein complex microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 55 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171) Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) GTCCTACATGCGGAGTGGGAC 0.627000 12 101 0 0 1 0 0 CCDC85A 114800 broad.mit.edu 37 2 56419682 56419682 + Missense_Mutation SNP G G A TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr2:56419682G>A ENST00000407595.2 + 2 849 c.347G>A c.(346-348)cGg>cAg p.R116Q RP11-482H16.1_ENST00000607540.1_RNA NM_001080433.1 NP_001073902.1 Q96PX6 CC85A_HUMAN coiled-coil domain containing 85A 116 breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3) 38 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) GATGATGACCGGCAGAAAGGC 0.527000 54 334 0 0 1 0 0 RP11-204M4.2 0 broad.mit.edu 37 9 41962602 41962602 + RNA SNP G G T TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr9:41962602G>T ENST00000454645.1 - 0 902 NR_003670.1 TTCTTTCTTTGTTTTTTTTCC 0.373000 22 217 8.24728e-16 8.80537e-16 1 1 0 LINC00969 0 broad.mit.edu 37 3 195400728 195400728 + RNA SNP A A G rs12107841 by1000genomes TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr3:195400728A>G ENST00000445430.1 + 0 1324 GATTGTGCCCAGCCTGTACGC 0.587000 12 286 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625955 29625955 + Nonsense_Mutation SNP A A T TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr20:29625955A>T ENST00000278882.3 + 5 579 c.199A>T c.(199-201)Aga>Tga p.R67* FRG1B_ENST00000358464.4_Nonsense_Mutation_p.R67*|FRG1B_ENST00000439954.2_Nonsense_Mutation_p.R72* endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AATTGGACCAAGAGAACAATG 0.338000 25 542 0 0 1 0 0 SLC29A4 222962 broad.mit.edu 37 7 5330780 5330780 + Silent SNP C C T TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr7:5330780C>T ENST00000396872.2 + 4 488 c.327C>T c.(325-327)agC>agT p.S109S SLC29A4_ENST00000297195.4_Silent_p.S109S|SLC29A4_ENST00000406453.3_Silent_p.S109S NM_001040661.1|NM_153247.2 NP_001035751.1|NP_694979.2 Q7RTT9 S29A4_HUMAN solute carrier family 29 (equilibrative nucleoside transporter), member 4 109 nucleobase, nucleoside and nucleotide metabolic process apical plasma membrane|integral to membrane nucleoside transmembrane transporter activity breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1) 20 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15) TTGACATGAGCCTCACCTACA 0.632000 39 295 0 0 1 0 0 CORIN 10699 broad.mit.edu 37 4 47682234 47682234 + Silent SNP G G A TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr4:47682234G>A ENST00000273857.4 - 8 1055 c.1056C>T c.(1054-1056)gaC>gaT p.D352D CORIN_ENST00000505909.1_Intron|CORIN_ENST00000504584.1_Intron|CORIN_ENST00000508498.1_Silent_p.D213D|CORIN_ENST00000502252.1_Silent_p.D285D NM_006587.2 NP_006578.2 Q9Y5Q5 CORIN_HUMAN corin, serine peptidase 352 LDL-receptor class A 3. peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 79 TGCAGCGCCCGTCCCCGCAGC 0.532000 32 169 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145296448 145296448 + Missense_Mutation SNP T T A rs4996268 by1000genomes TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr1:145296448T>A ENST00000342960.5 + 3 405 c.370T>A c.(370-372)Tat>Aat p.Y124N NBPF10_ENST00000369339.2_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 124 p.Y124N(2) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) CCGCTCATTGTATGAGCATCT 0.562000 61 753 0 0 1 0 0 OR7D4 125958 broad.mit.edu 37 19 9325150 9325150 + Missense_Mutation SNP G G A TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr19:9325150G>A ENST00000308682.2 - 1 392 c.364C>T c.(364-366)Cgg>Tgg p.R122W NM_001005191.2 NP_001005191.1 Q8NG98 OR7D4_HUMAN olfactory receptor, family 7, subfamily D, member 4 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1) 26 GCCACAAACCGGTCATAGGCC 0.502000 69 354 0 0 1 0 0 HPR 3250 broad.mit.edu 37 16 72110604 72110604 + Missense_Mutation SNP C C T TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr16:72110604C>T ENST00000540303.2 + 5 703 c.671C>T c.(670-672)tCt>tTt p.S224F HPR_ENST00000561690.1_Intron|HPR_ENST00000356967.5_Missense_Mutation_p.S224F|HPR_ENST00000228226.8_Missense_Mutation_p.S261F NM_020995.3 NP_066275.3 P00739 HPTR_HUMAN haptoglobin-related protein 224 Peptidase S1. proteolysis spherical high-density lipoprotein particle hemoglobin binding|serine-type endopeptidase activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2) 20 Ovarian(137;0.125) GGTTACGTGTCTGGCTGGGGA 0.453000 96 517 0 0 1 0 0 TPTE2P6 0 broad.mit.edu 37 13 25161397 25161397 + RNA SNP C C G rs3874227 by1000genomes TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr13:25161397C>G ENST00000453498.1 + 0 921 TGAAACATCTCTACAACTGGA 0.343000 14 341 0 0 1 0 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39261693 39261693 + Missense_Mutation SNP A A T rs113059833 by1000genomes TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr17:39261693A>T ENST00000391415.1 + 1 110 c.53A>T c.(52-54)gAc>gTc p.D18V NM_001146041.1 NP_001139513.1 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 18 keratin filament p.D18V(1) central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3) 14 TGCGGCCAAGACCTCTGTCAG 0.627000 18 225 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577118 7577118 + Missense_Mutation SNP C C A TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr17:7577118C>A ENST00000420246.2 - 8 952 c.820G>T c.(820-822)Gtt>Ttt p.V274F TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.V274F|TP53_ENST00000455263.2_Missense_Mutation_p.V274F|TP53_ENST00000359597.4_Missense_Mutation_p.V274F|TP53_ENST00000269305.4_Missense_Mutation_p.V274F NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 274 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.V274F(21)|p.V274L(11)|p.0?(8)|p.V274I(4)|p.?(2)|p.R273_C275delRVC(1)|p.V274fs*71(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.V274_P278del(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.V272_K292del21(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CAGGCACAAACACGCACCTCA 0.552000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 34 124 4.31634e-10 4.44145e-10 1 1 0 ABCC9 10060 broad.mit.edu 37 12 21968727 21968727 + Silent SNP G G A TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr12:21968727G>A ENST00000261200.4 - 32 3992 c.3993C>T c.(3991-3993)caC>caT p.H1331H ABCC9_ENST00000261201.4_Silent_p.H1331H|ABCC9_ENST00000345162.2_Silent_p.H1295H NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 1331 ABC transporter 2. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) AAGCCTTGACGTGCTTAAGAA 0.383000 40 442 0 0 1 0 0 AC004702.2 0 broad.mit.edu 37 17 20224876 20224876 + RNA SNP G G A TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr17:20224876G>A ENST00000580225.1 + 0 105 CCDC144CP_ENST00000340196.4_RNA AGATCTTGGCGAGCTCCACAG 0.622000 267 858 0 0 1 0 0 RP11-368J21.3 0 broad.mit.edu 37 16 22588087 22588087 + RNA SNP G G C TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr16:22588087G>C ENST00000550753.1 + 0 2562 NR_003676.2 GTGGGACACCGTTCCCTGGAT 0.522000 8 184 0 0 1 0 0 AQP7 364 broad.mit.edu 37 9 33385614 33385614 + Missense_Mutation SNP A A T rs140995428 by1000genomes TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr9:33385614A>T ENST00000541274.1 - 5 830 c.381T>A c.(379-381)agT>agA p.S127R AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_3'UTR O14520 AQP7_HUMAN aquaporin 7 0 excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) CCACAGAAAAACTCAAAGGAA 0.632000 15 546 0 0 1 0 0 PRAMEF1 65121 broad.mit.edu 37 1 12854372 12854372 + Missense_Mutation SNP T T C TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr1:12854372T>C ENST00000332296.7 + 3 699 c.596T>C c.(595-597)tTg>tCg p.L199S NM_023013.2 NP_075389.1 O95521 PRAM1_HUMAN PRAME family member 1 199 cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) AGAAAGTCATTGAAAATAATA 0.403000 202 2918 0 0 1 0 0 WASH4P 0 broad.mit.edu 37 16 67048 67048 + Nonsense_Mutation SNP G G C TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr16:67048G>C ENST00000326592.9 - 5 1246 c.588C>G c.(586-588)taC>taG p.Y196* CATACTTCTTGTACCTACAGA 0.577000 8 131 0 0 1 0 0 SIPA1L3 23094 broad.mit.edu 37 19 38631993 38631993 + Missense_Mutation SNP G G A TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr19:38631993G>A ENST00000222345.6 + 11 3822 c.3313G>A c.(3313-3315)Ggc>Agc p.G1105S NM_015073.1 NP_055888.1 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 3 1105 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) AACCACTCCCGGCCATGCCCA 0.677000 56 690 0 0 1 0 0 RFPL3 10738 broad.mit.edu 37 22 32756681 32756681 + Silent SNP C C T TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr22:32756681C>T ENST00000249007.4 + 2 1021 c.816C>T c.(814-816)agC>agT p.S272S RFPL3_ENST00000382088.3_Silent_p.S243S|RFPL3S_ENST00000400234.1_3'UTR|RFPL3S_ENST00000461833.1_5'UTR|RFPL3_ENST00000397468.1_Silent_p.S243S|RFPL3S_ENST00000382084.4_3'UTR NM_001098535.1 NP_001092005.1 O75679 RFPL3_HUMAN ret finger protein-like 3 272 B30.2/SPRY. zinc ion binding cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1) 15 CATTCAGGAGCGTCTCTGCTG 0.478000 92 436 0 0 1 0 0 VAMP3 9341 broad.mit.edu 37 1 7838212 7838214 + In_Frame_Del DEL TCA TCA - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr1:7838212_7838214delTCA ENST00000054666.6 + 4 381_383 c.266_268delTCA c.(265-270)ttc>t p.FI89del VAMP3_ENST00000470357.1_In_Frame_Del_p.FI61del NM_004781.3 NP_004772.1 Q15836 VAMP3_HUMAN vesicle-associated membrane protein 3 89 cellular membrane fusion|positive regulation of receptor recycling|protein complex assembly|protein transport|retrograde transport, endosome to Golgi|substrate adhesion-dependent cell spreading|vesicle docking involved in exocytosis cell junction|clathrin-coated vesicle|integral to membrane|recycling endosome|synapse|synaptosome protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3) 6 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642) CTGGTTATCTTCATCATCATCAT 0.365 11 1026 --- --- --- --- AADACL3 126767 broad.mit.edu 37 1 12785492 12785493 + Frame_Shift_Ins INS - - T TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr1:12785492_12785493insT ENST00000332530.3 + 3 598_599 c.372_373insT c.(370-375)tagtttfs p.*F124fs AADACL3_ENST00000359318.5_Frame_Shift_Ins_p.*F194fs NM_001103169.1 NP_001096639.1 Q5VUY0 ADCL3_HUMAN arylacetamide deacetylase-like 3 194 hydrolase activity breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1) 15 Ovarian(185;0.249) Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) TCATCTGCTACTGTTTTTTTCA 0.455 9 1316 --- --- --- --- ZBTB40 9923 broad.mit.edu 37 1 22838561 22838563 + In_Frame_Del DEL AAG AAG - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr1:22838561_22838563delAAG ENST00000404138.1 + 12 2906_2908 c.2395_2397delAAG c.(2395-2397)del p.K803del ZBTB40_ENST00000374651.4_In_Frame_Del_p.K691del|ZBTB40_ENST00000375647.4_In_Frame_Del_p.K803del NM_001083621.1 NP_001077090.1 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 803 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) CGATGCCCCCAAGAAGAAGAAGA 0.517 13 419 --- --- --- --- PHACTR4 65979 broad.mit.edu 37 1 28800272 28800273 + Frame_Shift_Ins INS - - C TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr1:28800272_28800273insC ENST00000373839.3 + 7 1291_1292 c.1030_1031insC c.(1030-1032)cccfs p.P344fs PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.P354fs|PHACTR4_ENST00000493669.1_3'UTR 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 11 1217 --- --- --- --- C1orf94 84970 broad.mit.edu 37 1 34666398 34666398 + Frame_Shift_Del DEL A A - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr1:34666398delA ENST00000488417.1 + 3 1155 c.1035delA c.(1033-1035)ccfs p.P345fs C1orf94_ENST00000373374.3_Frame_Shift_Del_p.P155fs NM_001134734.1 NP_001128206.1 Q6P1W5 CA094_HUMAN chromosome 1 open reading frame 94 155 protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2) 32 Myeloproliferative disorder(586;0.0393) CCAAGGAGCCAAAAAAGGGTC 0.572 8 544 --- --- --- --- ZMYM4 9202 broad.mit.edu 37 1 35846959 35846960 + Frame_Shift_Ins INS - - A TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr1:35846959_35846960insA ENST00000314607.6 + 8 1361_1362 c.1281_1282insA c.(1279-1284)ctaaaafs p.LK427fs ZMYM4_ENST00000373297.2_Frame_Shift_Ins_p.LK427fs NM_005095.2 NP_005086.2 Q5VZL5 ZMYM4_HUMAN zinc finger, MYM-type 4 427 multicellular organismal development DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2) 54 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) CATATGAACTGAAAAAAAAACC 0.342 10 467 --- --- --- --- RPE65 6121 broad.mit.edu 37 1 68903931 68903931 + Frame_Shift_Del DEL T T - rs62642586 TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr1:68903931delT ENST00000262340.5 - 10 1120 c.1067delA c.(1066-1068)atfs p.N356fs NM_000329.2 NP_000320.1 Q16518 RPE65_HUMAN retinal pigment epithelium-specific protein 65kDa 356 visual perception cytoplasm|plasma membrane all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 35 CTTTCTGGCATTTTTTTTCAC 0.348 7 340 --- --- --- --- ST6GALNAC5 81849 broad.mit.edu 37 1 77334277 77334279 + In_Frame_Del DEL GCA GCA - rs113832855 TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr1:77334277_77334279delGCA ENST00000477717.1 + 2 346_348 c.111_113delGCA c.(109-114)ccg>cc p.PQ37del ST6GALNAC5_ENST00000496845.1_3'UTR NM_030965.1 NP_112227.1 Q9BVH7 SIA7E_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 37 protein glycosylation integral to Golgi membrane sialyltransferase activity endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1) 18 AGCGGCCCCCgcagcagcagcag 0.700 9 183 --- --- --- --- BCL10 8915 broad.mit.edu 37 1 85736511 85736511 + Frame_Shift_Del DEL T T - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr1:85736511delT ENST00000370580.1 - 2 873 c.136delA c.(136-138)tafs p.I46fs NM_003921.4 NP_003912.1 O95999 BCL10_HUMAN B-cell CLL/lymphoma 10 46 CARD. apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin|T cell receptor signaling pathway CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding p.I46fs*4(1) haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 19 all cancers(265;0.0114)|Epithelial(280;0.0311) CTACTGAGTATTTTTTTTGCA 0.343 T IGH@ MALT 16 701 --- --- --- --- CCDC18 343099 broad.mit.edu 37 1 93667515 93667516 + Frame_Shift_Ins INS - - A TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr1:93667515_93667516insA ENST00000343253.7 + 7 1267_1268 c.765_766insA c.(763-768)taaaaafs p.*K255fs CCDC18_ENST00000401026.3_Frame_Shift_Ins_p.*K255fs|CCDC18_ENST00000557479.1_Frame_Shift_Ins_p.*K373fs|CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000338949.4_Frame_Shift_Ins_p.*K54fs Q5T9S5 CCD18_HUMAN coiled-coil domain containing 18 255 p.V377fs*15(1) breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 42 all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203) all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967) TCCAACAATATAAAAAAAAAGT 0.317 7 181 --- --- --- --- DPYD 1806 broad.mit.edu 37 1 97771791 97771791 + Frame_Shift_Del DEL A A - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr1:97771791delA ENST00000370192.3 - 17 2221 c.2121delT c.(2119-2121)ttfs p.F707fs DPYD-AS1_ENST00000422980.1_RNA NM_000110.3 NP_000101.2 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 707 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) TCAGCTTGGCAAAAAAAGGAA 0.428 10 1277 --- --- --- --- NOTCH2 4853 broad.mit.edu 37 1 120612003 120612004 + Frame_Shift_Del DEL GG GG - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr1:120612003_120612004delGG ENST00000256646.2 - 1 236_237 c.17_18delCC c.(16-18)cfs p.P6fs NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 6 anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity p.P6fs*27(2) breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) ACAGCAGAGCGGGGCGCAGGGC 0.762 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 16 49 --- --- --- --- RP11-343N15.1 0 broad.mit.edu 37 1 121116645 121116645 + RNA DEL T T - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr1:121116645delT ENST00000437515.1 - 0 329 CAAGCCCCCCTTTAAAAAAAA 0.393 7 257 --- --- --- --- AL592494.5 0 broad.mit.edu 37 1 121139067 121139069 + RNA DEL AGA AGA - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr1:121139067_121139069delAGA ENST00000417218.1 + 0 454_456 RP11-343N15.1_ENST00000437515.1_lincRNA GGGCAGCTCCAGAAGCTCATCGT 0.655 7 20 --- --- --- --- SRGAP2B 0 broad.mit.edu 37 1 144043905 144043906 + RNA INS - - G TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr1:144043905_144043906insG ENST00000467933.1 + 0 1108 tcgctcacgctggagctgtaga 0.535 13 163 --- --- --- --- ADAMTSL4 54507 broad.mit.edu 37 1 150530506 150530506 + Frame_Shift_Del DEL G G - rs149280379 TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr1:150530506delG ENST00000271643.4 + 14 2499 c.2263delG c.(2263-2265)ggfs p.G758fs ADAMTSL4_ENST00000369038.2_Frame_Shift_Del_p.G758fs|ADAMTSL4_ENST00000369041.5_Frame_Shift_Del_p.G758fs|ADAMTSL4_ENST00000369039.5_Frame_Shift_Del_p.G781fs NM_019032.4 NP_061905.2 Q6UY14 ATL4_HUMAN ADAMTS-like 4 758 TSP type-1 2. apoptosis|positive regulation of apoptosis metalloendopeptidase activity|protease binding breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3) 32 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) GCAGGAATTTGGGGGGGGTGG 0.692 8 930 --- --- --- --- RFX5 5993 broad.mit.edu 37 1 151318741 151318741 + Frame_Shift_Del DEL G G - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr1:151318741delG ENST00000290524.4 - 3 234 c.56delC c.(55-57)cafs p.P19fs RFX5_ENST00000478564.1_5'UTR|RFX5_ENST00000368870.2_Frame_Shift_Del_p.P19fs|RFX5_ENST00000452513.2_Frame_Shift_Del_p.P19fs|RFX5_ENST00000452671.2_Frame_Shift_Del_p.P19fs NM_000449.3|NM_001025603.1 NP_000440.1|NP_001020774.1 P48382 RFX5_HUMAN regulatory factor X, 5 (influences HLA class II expression) 19 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 20 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) AGCACCACCTGGGGGGGCCCT 0.557 8 918 --- --- --- --- HAX1 10456 broad.mit.edu 37 1 154245864 154245866 + In_Frame_Del DEL GAA GAA - rs11556342 TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr1:154245864_154245866delGAA ENST00000328703.7 + 2 319_321 c.106_108delGAA c.(106-108)del p.E40del HAX1_ENST00000532105.1_Intron|HAX1_ENST00000457918.2_Intron|HAX1_ENST00000483970.2_In_Frame_Del_p.E40del NM_006118.3 NP_006109.2 O00165 HAX1_HUMAN HCLS1 associated protein X-1 40 Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity). actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction interleukin-1 binding|protein N-terminus binding cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 15 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) TGATGATGAGGAAGAAGAAGAAG 0.522 Kostmann syndrome 10 432 --- --- --- --- KCNN3 3782 broad.mit.edu 37 1 154680586 154680588 + In_Frame_Del DEL GCT GCT - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr1:154680586_154680588delGCT ENST00000271915.3 - 8 2375_2377 c.2060_2062delAGC c.(2059-2064)ctc>c p.QL687del KCNN3_ENST00000361147.4_In_Frame_Del_p.QL382del|KCNN3_ENST00000515643.1_5'UTR|KCNN3_ENST00000358505.2_In_Frame_Del_p.QL374del NM_002249.5 NP_002240.3 Q9UGI6 KCNN3_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 692 integral to membrane calmodulin binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1) 28 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) GCAGACAGGAGCTGCTGCTGCTG 0.640 18 907 --- --- --- --- PCP4L1 654790 broad.mit.edu 37 1 161254154 161254156 + In_Frame_Del DEL GGA GGA - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr1:161254154_161254156delGGA ENST00000504449.1 + 3 338_340 c.90_92delGGA c.(88-93)gcg>gc p.AE30del NM_001102566.1 NP_001096036.1 A6NKN8 PC4L1_HUMAN Purkinje cell protein 4 like 1 30 p.A30A(1)|p.E35delE(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(1) 4 all_cancers(52;4.16e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) TCAAGAAGGCGGAGGAGGAGGAG 0.488 10 533 --- --- --- --- TMCO1 54499 broad.mit.edu 37 1 165712550 165712551 + Splice_Site INS - - A TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 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 9 324 --- --- --- --- GPR52 9293 broad.mit.edu 37 1 174417778 174417778 + Frame_Shift_Del DEL T T - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr1:174417778delT ENST00000367685.2 + 1 567 c.529delT c.(529-531)ttfs p.F178fs RABGAP1L_ENST00000367689.3_Intron|RABGAP1L_ENST00000251507.4_Intron|RABGAP1L_ENST00000357444.6_Intron NM_005684.4 NP_005675.3 Q9Y2T5 GPR52_HUMAN G protein-coupled receptor 52 178 integral to plasma membrane G-protein coupled receptor activity breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2) 20 CTTGCCTTCCTTTTTTGGCTG 0.433 8 1608 --- --- --- --- IPO9 55705 broad.mit.edu 37 1 201843998 201844000 + In_Frame_Del DEL GAG GAG - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr1:201843998_201844000delGAG ENST00000361565.4 + 22 2941_2943 c.2872_2874delGAG c.(2872-2874)del p.E962del NM_018085.4 NP_060555.2 Q96P70 IPO9_HUMAN importin 9 962 protein import into nucleus cytoplasm|nucleus histone binding|protein transporter activity cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 38 ggaggaggaagaggaggaggagg 0.443 8 606 --- --- --- --- GPR37L1 9283 broad.mit.edu 37 1 202097525 202097527 + In_Frame_Del DEL CTG CTG - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr1:202097525_202097527delCTG ENST00000367282.4 + 2 1393_1395 c.1287_1289delCTG c.(1285-1290)gac>ga p.DC429del NM_004767.3 NP_004758.3 O60883 ETBR2_HUMAN G protein-coupled receptor 37 like 1 429 Cys-rich. integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2) 18 CCTTCCTGGActgctgctgctgc 0.626 8 234 --- --- --- --- PIK3C2B 5287 broad.mit.edu 37 1 204438072 204438072 + Frame_Shift_Del DEL G G - rs115574296 by1000genomes TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr1:204438072delG ENST00000367187.3 - 3 1415 c.859delC c.(859-861)gcfs p.R287fs PIK3C2B_ENST00000424712.2_Frame_Shift_Del_p.R287fs NM_002646.3 NP_002637.3 O00750 P3C2B_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta 287 Interaction with GRB2. cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding p.R287fs*92(1) breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 52 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) GCATAGGTGCGGGGGGGCACC 0.622 7 830 --- --- --- --- KCTD3 51133 broad.mit.edu 37 1 215747171 215747171 + Frame_Shift_Del DEL T T - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr1:215747171delT ENST00000259154.4 + 2 420 c.126delT c.(124-126)tcfs p.S42fs NM_016121.3 NP_057205.2 Q9Y597 KCTD3_HUMAN potassium channel tetramerization domain containing 3 42 BTB. voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1) 33 all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13) TTCCAGATTCTTTTTTTTCCA 0.229 9 599 --- --- --- --- AGT 183 broad.mit.edu 37 1 230839055 230839055 + Frame_Shift_Del DEL A A - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr1:230839055delA ENST00000366667.4 - 5 1504 c.1290delT c.(1288-1290)ttfs p.F430fs NM_000029.3 NP_000020.1 P01019 ANGT_HUMAN angiotensinogen (serpin peptidase inhibitor, clade A, member 8) 430 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation extracellular space|soluble fraction acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5) 25 Breast(184;0.0735)|Ovarian(103;0.183) all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167) GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641) CTTCAAGCTCAAAAAAAATGC 0.562 9 506 --- --- --- --- OR2T2 401992 broad.mit.edu 37 1 248616705 248616711 + Frame_Shift_Del DEL TGCTGCG TGCTGCG - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr1:248616705_248616711delTGCTGCG ENST00000342927.3 + 1 629_635 c.607_613delTGCTGCG c.(607-615)tgfs p.CCV203fs NM_001004136.1 NP_001004136.1 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, member 2 203 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 37 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GATGTATGCCTGCTGCGTGCTGATGCT 0.527 13 425 --- --- --- --- ASXL2 55252 broad.mit.edu 37 2 26022304 26022306 + In_Frame_Del DEL CTG CTG - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr2:26022304_26022306delCTG ENST00000435504.4 - 5 644_646 c.351_353delCAG c.(349-354)agt>ag p.SS117del ASXL2_ENST00000497092.1_5'UTR|ASXL2_ENST00000336112.4_In_Frame_Del_p.SS89del|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 11 698 --- --- --- --- FAM98A 25940 broad.mit.edu 37 2 33813402 33813402 + Splice_Site DEL T T - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr2:33813402delT ENST00000403368.1 - 4 591 c.522_splice c.e4+1 p.K174_splice FAM98A_ENST00000498340.1_Intron|FAM98A_ENST00000238823.8_Splice_Site_p.K174_splice|FAM98A_ENST00000441530.2_Intron NM_015475.3 NP_056290.3 Q8NCA5 FA98A_HUMAN family with sequence similarity 98, member A 175 NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1) 24 all_hematologic(175;0.115) AAGGTCTTACTTTTTTTTCAA 0.338 9 888 --- --- --- --- SOS1 6654 broad.mit.edu 37 2 39213243 39213243 + Frame_Shift_Del DEL T T - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr2:39213243delT ENST00000426016.1 - 24 3810 c.3724delA c.(3724-3726)gtfs p.S1242fs SOS1_ENST00000402219.2_Frame_Shift_Del_p.S1242fs|SOS1_ENST00000395038.2_Frame_Shift_Del_p.S1227fs Q07889 SOS1_HUMAN son of sevenless homolog 1 (Drosophila) 1242 apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 75 all_hematologic(82;0.21) CCATGGTCACTTTTTTTGCCC 0.517 Noonan syndrome 7 540 --- --- --- --- LRPPRC 10128 broad.mit.edu 37 2 44200754 44200754 + Frame_Shift_Del DEL T T - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr2:44200754delT ENST00000260665.7 - 11 1418 c.1361delA c.(1360-1362)atfs p.N454fs LRPPRC_ENST00000409659.1_Frame_Shift_Del_p.N454fs|LRPPRC_ENST00000409946.1_Frame_Shift_Del_p.N454fs NM_133259.3 NP_573566.2 P42704 LPPRC_HUMAN leucine-rich pentatricopeptide repeat containing 454 mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm beta-tubulin binding|microtubule binding|RNA binding breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2) 41 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) ACCTTGAACATTTTTTTCCTT 0.413 7 506 --- --- --- --- RTN4 57142 broad.mit.edu 37 2 55253745 55253746 + Frame_Shift_Ins INS - - T TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr2:55253745_55253746insT ENST00000337526.6 - 3 1732_1733 c.1489_1490insA c.(1489-1491)agafs p.R497fs RTN4_ENST00000317610.7_Intron|RTN4_ENST00000357376.3_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000405240.1_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000394611.2_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000354474.6_Frame_Shift_Ins_p.R265fs|RTN4_ENST00000404909.1_Frame_Shift_Ins_p.R291fs NM_020532.4 NP_065393.1 Q9NQC3 RTN4_HUMAN reticulon 4 497 apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1) 36 CTTTTCTTCTATTTTTTTTTCA 0.381 16 656 --- --- --- --- ST3GAL5 8869 broad.mit.edu 37 2 86075293 86075293 + Frame_Shift_Del DEL T T - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr2:86075293delT ENST00000377332.3 - 4 461 c.353delA c.(352-354)agfs p.K118fs ST3GAL5_ENST00000393805.1_Frame_Shift_Del_p.K90fs|ST3GAL5_ENST00000393808.3_Frame_Shift_Del_p.K95fs NM_003896.3 NP_003887.3 Q9UNP4 SIAT9_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 5 118 ganglioside biosynthetic process|protein glycosylation integral to Golgi membrane|integral to plasma membrane lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 15 ACGACATTCCTTCTGCAAGAC 0.433 7 1897 --- --- --- --- DUSP2 1844 broad.mit.edu 37 2 96809973 96809973 + Frame_Shift_Del DEL A A - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr2:96809973delA ENST00000288943.4 - 3 735 c.650delT c.(649-651)tcfs p.F217fs NM_004418.3 NP_004409.1 Q05923 DUS2_HUMAN dual specificity phosphatase 2 217 endoderm formation|inactivation of MAPK activity|regulation of apoptosis nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity NS(1)|breast(1)|lung(2)|skin(1) 5 Ovarian(717;0.0228) CTTGTAGCGGAAAAGGCCCTC 0.602 9 556 --- --- --- --- TMEM131 23505 broad.mit.edu 37 2 98427639 98427639 + Frame_Shift_Del DEL T T - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr2:98427639delT ENST00000186436.5 - 18 2148 c.1920delA c.(1918-1920)aafs p.K640fs NM_015348.1 NP_056163.1 Q92545 TM131_HUMAN transmembrane protein 131 640 integral to membrane NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1) 57 TCCCCTCTAATTTTTTTGCAG 0.393 12 1625 --- --- --- --- AFF3 3899 broad.mit.edu 37 2 100218011 100218013 + In_Frame_Del DEL GCT GCT - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr2:100218011_100218013delGCT ENST00000317233.4 - 13 1490_1492 c.1255_1257delAGC c.(1255-1257)del p.S419del AFF3_ENST00000356421.2_In_Frame_Del_p.S444del|AFF3_ENST00000409579.1_In_Frame_Del_p.S444del|AFF3_ENST00000409236.1_In_Frame_Del_p.S419del NM_002285.2 NP_002276.2 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 419 Poly-Ser. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 tgctgctgccgctgctgctgctg 0.685 7 89 --- --- --- --- SLC20A1 6574 broad.mit.edu 37 2 113416607 113416608 + Frame_Shift_Del DEL AG AG - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr2:113416607_113416608delAG ENST00000272542.3 + 7 1523_1524 c.984_985delAG c.(982-987)ccagfs p.PE328fs SLC20A1_ENST00000480984.1_3'UTR NM_005415.4 NP_005406.3 Q8WUM9 S20A1_HUMAN solute carrier family 20 (phosphate transporter), member 1 328 phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to plasma membrane inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity p.R332fs*14(1) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3) 28 AGGAAGCTCCAGAGAGAGAGAG 0.515 10 425 --- --- --- --- ACVR2A 92 broad.mit.edu 37 2 148683685 148683686 + Frame_Shift_Ins INS - - A TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr2:148683685_148683686insA ENST00000241416.7 + 10 1938_1939 c.1302_1303insA c.(1300-1305)caaaaafs p.QK434fs ACVR2A_ENST00000404590.1_Frame_Shift_Ins_p.QK434fs|ACVR2A_ENST00000535787.1_Frame_Shift_Ins_p.QK326fs|ACVR2A_ENST00000495775.1_3'UTR NM_001278579.1|NM_001278580.1|NM_001616.3 NP_001265508.1|NP_001265509.1|NP_001607.1 P27037 AVR2A_HUMAN activin A receptor, type IIA 434 Protein kinase. activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity p.K437fs*5(3) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8) 45 BRCA - Breast invasive adenocarcinoma(221;0.0969) TTGTTGTGCATAAAAAAAAGAG 0.366 9 790 --- --- --- --- CIR1 9541 broad.mit.edu 37 2 175213712 175213713 + Frame_Shift_Ins INS - - T TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr2:175213712_175213713insT ENST00000342016.3 - 10 957_958 c.865_866insA c.(865-867)acafs p.T289fs CIR1_ENST00000362053.5_3'UTR NM_004882.3 NP_004873.3 Q86X95 CIR1_HUMAN corepressor interacting with RBPJ, 1 289 Lys/Ser-rich. mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing nuclear speck protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1) 15 cttcctttgtatttttttttct 0.381 11 450 --- --- --- --- SGOL2 151246 broad.mit.edu 37 2 201437003 201437004 + Frame_Shift_Ins INS - - T TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr2:201437003_201437004insT ENST00000357799.4 + 7 2032_2033 c.1934_1935insT c.(1933-1935)attfs p.I645fs NM_001160033.1|NM_001160046.1|NM_152524.5 NP_001153505.1|NP_001153518.1|NP_689737.4 Q562F6 SGOL2_HUMAN shugoshin-like 2 (S. pombe) 645 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|mitotic cohesin complex protein binding NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 46 AAAAAAGGTAATTTTTTTTTCA 0.337 12 783 --- --- --- --- ALS2CR11 151254 broad.mit.edu 37 2 202352352 202352352 + Frame_Shift_Del DEL T T - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 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 8 566 --- --- --- --- TNS1 7145 broad.mit.edu 37 2 218712887 218712889 + In_Frame_Del DEL GCT GCT - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr2:218712887_218712889delGCT ENST00000171887.4 - 17 2428_2430 c.1976_1978delAGC c.(1975-1980)cct>c p.QP659del TNS1_ENST00000430930.1_In_Frame_Del_p.QP659del|TNS1_ENST00000419504.1_In_Frame_Del_p.QP659del NM_022648.4 NP_072174.3 Q9HBL0 TENS1_HUMAN tensin 1 659 Gln-rich. cytoplasm|cytoskeleton|focal adhesion actin binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) GGTGGGCGAGgctgctgctgctg 0.660 12 164 --- --- --- --- AAMP 14 broad.mit.edu 37 2 219134766 219134766 + Frame_Shift_Del DEL G G - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr2:219134766delG ENST00000248450.4 - 1 214 c.44delC c.(43-45)cafs p.P15fs AAMP_ENST00000444053.1_Frame_Shift_Del_p.P15fs Q13685 AAMP_HUMAN angio-associated, migratory cell protein 15 angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration cell surface|cytoplasm|plasma membrane heparin binding p.L16fs*9(1) haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1) 11 Renal(207;0.0474) Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGTCTCCAGTGGGGGGGTGTC 0.617 7 2149 --- --- --- --- USP40 55230 broad.mit.edu 37 2 234433205 234433205 + Frame_Shift_Del DEL T T - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr2:234433205delT ENST00000251722.6 - 15 1928 c.1811delA c.(1810-1812)gtfs p.D604fs USP40_ENST00000427112.2_Frame_Shift_Del_p.D604fs|USP40_ENST00000450966.1_Frame_Shift_Del_p.D616fs Q9NVE5 UBP40_HUMAN ubiquitin specific peptidase 40 604 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 30 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539) Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646) TGTCAGTTCATCCCCTAGAAA 0.373 15 175 --- --- --- --- UGT1A10 0 broad.mit.edu 37 2 234545526 234545526 + Frame_Shift_Del DEL T T - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr2:234545526delT ENST00000344644.5 + 1 427 c.358delT c.(358-360)ttfs p.F121fs UGT1A10_ENST00000373445.1_Frame_Shift_Del_p.F121fs|UGT1A8_ENST00000373450.4_Intron NM_019075.2 NP_061948.1 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3) 32 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008) TCTTGACTTATTTTTTTCGCA 0.373 7 906 --- --- --- --- LINC00698 0 broad.mit.edu 37 3 63083094 63083096 + RNA DEL CTG CTG - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr3:63083094_63083096delCTG ENST00000468072.1 + 0 125 NR_027104.1 TCCGAGCCGTCTGCTGCTGCTGC 0.562 8 693 --- --- --- --- OR5H6 79295 broad.mit.edu 37 3 97983477 97983477 + Frame_Shift_Del DEL T T - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr3:97983477delT ENST00000383696.2 + 1 390 c.349delT c.(349-351)ttfs p.F118fs RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005479.1 NP_001005479.1 Q8NGV6 OR5H6_HUMAN olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene) 118 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 CATGGTACAATTTTTTTCCCT 0.393 7 1021 --- --- --- --- FILIP1L 11259 broad.mit.edu 37 3 99568272 99568273 + Frame_Shift_Ins INS - - T TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 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_ENST00000496116.1_Intron|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000383694.2_Frame_Shift_Ins_p.NK509fs|FILIP1L_ENST00000471562.1_Frame_Shift_Ins_p.NK509fs|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000354552.3_Frame_Shift_Ins_p.NK749fs 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 7 943 --- --- --- --- LNP1 348801 broad.mit.edu 37 3 100148586 100148588 + In_Frame_Del DEL GAT GAT - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr3:100148586_100148588delGAT ENST00000383693.3 + 2 1293_1295 c.13_15delGAT c.(13-15)del p.D10del LNP1_ENST00000489752.1_In_Frame_Del_p.D10del NM_001085451.1 NP_001078920.1 A1A4G5 LNP1_HUMAN leukemia NUP98 fusion partner 1 10 Poly-Asp. cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 6 GGAGCACAAAGATGATGATGATG 0.507 13 1567 --- --- --- --- TMCC1 23023 broad.mit.edu 37 3 129546680 129546682 + In_Frame_Del DEL GCA GCA - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr3:129546680_129546682delGCA ENST00000393238.3 - 3 880_882 c.540_542delTGC c.(538-543)gca>gc p.AA180del TMCC1_ENST00000426664.2_In_Frame_Del_p.AA66del NM_001017395.3 NP_001017395.2 O94876 TMCC1_HUMAN transmembrane and coiled-coil domain family 1 180 integral to membrane PLXND1/TMCC1(4) breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1) 25 TGGTAGACATgcagcagcagcag 0.483 9 272 --- --- --- --- PCOLCE2 26577 broad.mit.edu 37 3 142548586 142548586 + Frame_Shift_Del DEL T T - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr3:142548586delT ENST00000295992.3 - 6 1119 c.813delA c.(811-813)aafs p.K271fs PCOLCE2_ENST00000485766.1_Intron NM_013363.3 NP_037495.1 Q9UKZ9 PCOC2_HUMAN procollagen C-endopeptidase enhancer 2 271 extracellular region collagen binding|heparin binding|peptidase activator activity NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 32 TTGTAGGCAGTTTTTTTGGCC 0.383 9 885 --- --- --- --- WWTR1 25937 broad.mit.edu 37 3 149260194 149260196 + In_Frame_Del DEL CTG CTG - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr3:149260194_149260196delCTG ENST00000465804.1 - 5 953_955 c.697_699delCAG c.(697-699)del p.Q233del WWTR1_ENST00000467467.1_In_Frame_Del_p.Q233del|WWTR1_ENST00000360632.3_In_Frame_Del_p.Q233del NM_001168278.1 NP_001161750.1 Q9GZV5 WWTR1_HUMAN WW domain containing transcription regulator 1 233 Gln-rich. hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent cytoplasm transcription coactivator activity breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1) 23 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) GCCGCAGTTTCTGCTGCTGCTGC 0.581 T CAMTA1 epitheliod hemangioendothelioma 9 443 --- --- --- --- RP11-167H9.4 0 broad.mit.edu 37 3 149769296 149769296 + RNA DEL C C - rs59377959 TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr3:149769296delC ENST00000487840.1 + 0 46 TTCCTGGTGTCtttttttttt 0.463 19 485 --- --- --- --- PHC3 80012 broad.mit.edu 37 3 169896635 169896637 + In_Frame_Del DEL TGG TGG - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr3:169896635_169896637delTGG ENST00000494943.1 - 2 136_138 c.68_70delCCA c.(67-72)atc>a p.TI23del PHC3_ENST00000467570.1_In_Frame_Del_p.TI35del|PHC3_ENST00000497658.1_In_Frame_Del_p.TI35del|PHC3_ENST00000495893.1_In_Frame_Del_p.TI35del|PHC3_ENST00000474275.1_In_Frame_Del_p.TI23del|PHC3_ENST00000481639.1_In_Frame_Del_p.TI35del Q8NDX5 PHC3_HUMAN polyhomeotic homolog 3 (Drosophila) 23 Poly-Thr. multicellular organismal development PcG protein complex DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2) 26 all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655) GAAgtggtgatggtggtggtggt 0.493 10 1589 --- --- --- --- EIF4G1 1981 broad.mit.edu 37 3 184039744 184039746 + In_Frame_Del DEL GAA GAA - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr3:184039744_184039746delGAA ENST00000342981.4 + 9 1786_1788 c.1372_1374delGAA c.(1372-1374)del p.E465del EIF4G1_ENST00000424196.1_In_Frame_Del_p.E472del|EIF4G1_ENST00000352767.3_In_Frame_Del_p.E472del|EIF4G1_ENST00000411531.1_In_Frame_Del_p.E425del|EIF4G1_ENST00000350481.5_In_Frame_Del_p.E301del|EIF4G1_ENST00000319274.6_In_Frame_Del_p.E465del|EIF4G1_ENST00000392537.2_In_Frame_Del_p.E378del|EIF4G1_ENST00000414031.1_In_Frame_Del_p.E425del|EIF4G1_ENST00000382330.3_In_Frame_Del_p.E472del|EIF4G1_ENST00000427845.1_In_Frame_Del_p.E378del|EIF4G1_ENST00000434061.2_In_Frame_Del_p.E269del|EIF4G1_ENST00000435046.2_In_Frame_Del_p.E269del|EIF4G1_ENST00000441154.1_In_Frame_Del_p.E301del|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000346169.2_In_Frame_Del_p.E465del 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 9 701 --- --- --- --- TMEM41A 90407 broad.mit.edu 37 3 185212517 185212518 + Frame_Shift_Ins INS - - A rs150885877 byFrequency TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr3:185212517_185212518insA ENST00000421852.1 - 4 562_563 c.467_468insT c.(466-468)tttfs p.F156fs TMEM41A_ENST00000475480.1_5'UTR|TMEM41A_ENST00000296254.3_Intron NM_080652.3 NP_542383.1 Q96HV5 TM41A_HUMAN transmembrane protein 41A 156 integral to membrane large_intestine(1)|lung(2)|skin(1) 4 all_cancers(143;7.78e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) AAAACAATAAGAAAAAAAACAA 0.446 10 996 --- --- --- --- ATP13A3 79572 broad.mit.edu 37 3 194181471 194181473 + In_Frame_Del DEL GAG GAG - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr3:194181471_194181473delGAG ENST00000439040.1 - 4 930_932 c.139_141delCTC c.(139-141)del p.L47del ATP13A3_ENST00000256031.4_In_Frame_Del_p.L47del Q9H7F0 AT133_HUMAN ATPase type 13A3 47 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 24 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) GCATCCAATAGAGGAGGAGGAGG 0.463 7 803 --- --- --- --- LINC00969 0 broad.mit.edu 37 3 195400918 195400919 + RNA INS - - T rs55992531 by1000genomes TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr3:195400918_195400919insT ENST00000445430.1 + 0 1454 AGTCttttttctttttttttga 0.525 10 61 --- --- --- --- OTOP1 133060 broad.mit.edu 37 4 4204225 4204229 + Frame_Shift_Del DEL TTGAG TTGAG - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr4:4204225_4204229delTTGAG ENST00000296358.4 - 4 700_704 c.676_680delCTCAA c.(676-681)tfs p.LN226fs NM_177998.1 NP_819056.1 Q7RTM1 OTOP1_HUMAN otopetrin 1 226 biomineral tissue development extracellular space|integral to membrane p.L226fs*1(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CTTGTGCTCATTGAGTTGGTGCTTT 0.502 8 580 --- --- --- --- RBPJ 3516 broad.mit.edu 37 4 26417145 26417146 + Frame_Shift_Ins INS - - A TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr4:26417145_26417146insA ENST00000342320.4 + 4 377_378 c.201_202insA c.(199-204)aaaaaafs p.KK67fs RBPJ_ENST00000361572.6_Frame_Shift_Ins_p.KK81fs|RBPJ_ENST00000342295.1_Frame_Shift_Ins_p.KK81fs|RBPJ_ENST00000511401.1_3'UTR|RBPJ_ENST00000345843.3_Frame_Shift_Ins_p.KK66fs|RBPJ_ENST00000507561.1_Frame_Shift_Ins_p.KK46fs|RBPJ_ENST00000348160.4_Frame_Shift_Ins_p.KK68fs|RBPJ_ENST00000504907.1_Frame_Shift_Ins_p.KK67fs|RBPJ_ENST00000355476.3_Frame_Shift_Ins_p.KK67fs Q06330 SUH_HUMAN recombination signal binding protein for immunoglobulin kappa J region 81 DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target cytoplasm|nucleolus|nucleoplasm DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1) 15 Breast(46;0.0503) GTGGATGGAAGAAAAAAAAAGA 0.371 14 753 --- --- --- --- CLOCK 9575 broad.mit.edu 37 4 56336954 56336954 + Frame_Shift_Del DEL A A - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr4:56336954delA ENST00000309964.4 - 7 618 c.368delT c.(367-369)tafs p.L123fs CLOCK_ENST00000381322.1_Frame_Shift_Del_p.L123fs|CLOCK_ENST00000513440.1_Frame_Shift_Del_p.L123fs NM_004898.3 NP_004889.1 O15516 CLOCK_HUMAN clock circadian regulator 123 PAS 1. circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter cytoplasm|transcription factor complex DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity p.L123fs*1(2) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107) CATGATTGCTAAAAAAAAACC 0.289 19 389 --- --- --- --- UTP3 57050 broad.mit.edu 37 4 71554620 71554622 + In_Frame_Del DEL GAG GAG - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr4:71554620_71554622delGAG ENST00000254803.2 + 1 425_427 c.226_228delGAG c.(226-228)del p.E81del NM_020368.2 NP_065101.1 Q9NQZ2 SAS10_HUMAN UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae) 81 Glu-rich. brain development|chromatin modification|gene silencing nucleolus endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4) 18 Lung(101;0.235) ggaggatggcgaggaggaggagg 0.567 12 254 --- --- --- --- PRDM8 56978 broad.mit.edu 37 4 81123250 81123252 + In_Frame_Del DEL CAG CAG - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 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) 9 394 --- --- --- --- SEC31A 22872 broad.mit.edu 37 4 83785675 83785677 + In_Frame_Del DEL TGC TGC - rs140634448 TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr4:83785675_83785677delTGC ENST00000432794.1 - 11 1435_1437 c.1272_1274delGCA c.(1270-1275)cac>ca p.QH424del SEC31A_ENST00000505472.1_In_Frame_Del_p.QH424del|SEC31A_ENST00000505984.1_In_Frame_Del_p.QH424del|SEC31A_ENST00000443462.2_In_Frame_Del_p.QH419del|SEC31A_ENST00000513858.1_In_Frame_Del_p.QH424del|SEC31A_ENST00000395310.2_In_Frame_Del_p.QH424del|SEC31A_ENST00000500777.2_In_Frame_Del_p.QH424del|SEC31A_ENST00000326950.5_In_Frame_Del_p.QH424del|SEC31A_ENST00000348405.4_In_Frame_Del_p.QH424del|SEC31A_ENST00000508502.1_In_Frame_Del_p.QH424del|SEC31A_ENST00000311785.7_In_Frame_Del_p.QH424del|SEC31A_ENST00000355196.2_In_Frame_Del_p.QH424del|SEC31A_ENST00000508479.1_In_Frame_Del_p.QH424del|SEC31A_ENST00000264405.5_In_Frame_Del_p.QH196del|SEC31A_ENST00000509142.1_In_Frame_Del_p.QH424del|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000448323.1_In_Frame_Del_p.QH424del O94979 SC31A_HUMAN SEC31 homolog A (S. cerevisiae) 424 Interaction with SEC13. COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm calcium-dependent protein binding SEC31A/ALK(3)|SEC31A/JAK2(4) breast(1) 1 Hepatocellular(203;0.114) GAACACATGGTGCTGCTGCTGCT 0.448 7 395 --- --- --- --- PCDH10 57575 broad.mit.edu 37 4 134073569 134073571 + In_Frame_Del DEL CTG CTG - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 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 9 254 --- --- --- --- OTUD4 54726 broad.mit.edu 37 4 146077123 146077125 + In_Frame_Del DEL CAG CAG - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr4:146077123_146077125delCAG ENST00000454497.2 - 8 595_597 c.458_460delCTG c.(457-462)gat>g p.AD153del OTUD4_ENST00000447906.2_In_Frame_Del_p.AD218del|OTUD4_ENST00000455611.2_5'UTR NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 218 OTU. protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) CCATTCACATCAGCAGCAGCAGC 0.340 9 423 --- --- --- --- HMGB2 3148 broad.mit.edu 37 4 174253277 174253279 + In_Frame_Del DEL TCC TCC - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr4:174253277_174253279delTCC ENST00000296503.5 - 5 1455_1457 c.582_584delGGA c.(580-585)gaa>ga p.EE196del HMGB2_ENST00000446922.2_In_Frame_Del_p.EE196del|HMGB2_ENST00000438704.2_In_Frame_Del_p.EE196del P26583 HMGB2_HUMAN high mobility group box 2 196 Asp/Glu-rich (acidic). base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding p.E194E(1) endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3) 14 Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122) all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249) atcttcttcttcctcctcctcct 0.468 9 578 --- --- --- --- FRG1 2483 broad.mit.edu 37 4 190873437 190873439 + In_Frame_Del DEL AAG AAG - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr4:190873437_190873439delAAG ENST00000226798.4 + 3 476_478 c.254_256delAAG c.(253-258)aaa>a p.KE85del FRG1_ENST00000514482.1_3'UTR NM_004477.2 NP_004468.1 Q14331 FRG1_HUMAN FSHD region gene 1 85 rRNA processing Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1) 32 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) GCTCCACACAAAGAAGGTTTGTG 0.414 10 929 --- --- --- --- SDHA 6389 broad.mit.edu 37 5 228334 228335 + Frame_Shift_Ins INS - - T TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr5:228334_228335insT ENST00000264932.6 + 6 771_772 c.656_657insT c.(655-657)tttfs p.F219fs SDHA_ENST00000504309.1_Frame_Shift_Ins_p.F219fs|SDHA_ENST00000510361.1_Frame_Shift_Ins_p.F171fs NM_004168.2 NP_004159.2 P31040 DHSA_HUMAN succinate dehydrogenase complex, subunit A, flavoprotein (Fp) 219 nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle mitochondrial respiratory chain complex II electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 40 Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113) Succinic acid(DB00139) TTTGTGGAGTATTTTGCCTTGG 0.441 Familial Paragangliomas 31 471 --- --- --- --- AC026703.1 0 broad.mit.edu 37 5 32789822 32789823 + Frame_Shift_Del DEL GT GT - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr5:32789822_32789823delGT ENST00000326958.1 + 1 878_879 c.315_316delGT c.(313-318)gggtfs p.GC105fs NPR3_ENST00000265074.8_3'UTR CTGATTTTGGGTGTGTGTGTGT 0.421 10 551 --- --- --- --- NIPBL 25836 broad.mit.edu 37 5 37063925 37063927 + In_Frame_Del DEL GAA GAA - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr5:37063925_37063927delGAA ENST00000282516.8 + 46 8393_8395 c.7894_7896delGAA c.(7894-7896)del p.E2636del NIPBL_ENST00000448238.2_In_Frame_Del_p.E2636del NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 2636 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding p.E2632delE(2) autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) GGACCCTGATGAAGAAGAAGAAG 0.379 7 172 --- --- --- --- MCC 4163 broad.mit.edu 37 5 112824048 112824049 + In_Frame_Ins INS - - GCC rs35336557 TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr5:112824048_112824049insGCC ENST00000408903.3 - 1 478_479 c.63_64insGGC c.(61-66)gggcgg>ggGGCgcgg p.21_22GR>GAR NM_001085377.1 NP_001078846.1 P23508 CRCM_HUMAN mutated in colorectal cancers 549 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 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) ctgctgccgctgccgccgccgc 0.738 14 88 --- --- --- --- IK 3550 broad.mit.edu 37 5 140032593 140032594 + Frame_Shift_Del DEL GA GA - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr5:140032593_140032594delGA ENST00000417647.2 + 5 407_408 c.268_269delGA c.(268-270)gfs p.E90fs IK_ENST00000523672.1_3'UTR NM_006083.3 NP_006074.2 Q13123 RED_HUMAN IK cytokine, down-regulator of HLA II 90 cell-cell signaling|immune response extracellular space|nucleus|soluble fraction large_intestine(1) 1 all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACAAGAAATTGAGAGAGAGAGA 0.460 9 287 --- --- --- --- PCDHB4 0 broad.mit.edu 37 5 140502486 140502487 + Frame_Shift_Ins INS - - A TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr5:140502486_140502487insA ENST00000194152.1 + 1 906_907 c.906_907insA c.(904-909)ttaaaafs p.LK302fs NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 302 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding p.K305fs*12(1) autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AAATACTGTTGAAAAAAAAATT 0.366 12 1128 --- --- --- --- TCERG1 10915 broad.mit.edu 37 5 145886722 145886723 + Frame_Shift_Ins INS - - A TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr5:145886722_145886723insA ENST00000296702.5 + 19 2900_2901 c.2862_2863insA c.(2860-2865)acaaaafs p.TK954fs TCERG1_ENST00000394421.2_Frame_Shift_Ins_p.TK933fs NM_006706.3 NP_006697.2 O14776 TCRG1_HUMAN transcription elongation regulator 1 954 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1) 46 Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AAGCACTTACCAAAAAAAAGAG 0.376 13 774 --- --- --- --- PPARGC1B 133522 broad.mit.edu 37 5 149216457 149216459 + In_Frame_Del DEL GGA GGA - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 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_ENST00000360453.4_In_Frame_Del_p.GE774del|PPARGC1B_ENST00000403750.1_In_Frame_Del_p.GE749del 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 11 706 --- --- --- --- SLC26A2 1836 broad.mit.edu 37 5 149360166 149360168 + In_Frame_Del DEL TTG TTG - rs121908077 TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr5:149360166_149360168delTTG ENST00000286298.4 + 3 1278_1280 c.1010_1012delTTG c.(1009-1014)ctt>c p.LV337del NM_000112.3 NP_000103.2 P50443 S26A2_HUMAN solute carrier family 26 (anion exchanger), member 2 337 integral to plasma membrane|membrane fraction secondary active sulfate transmembrane transporter activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1) 18 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) CCTATTGAACTTGTTGTTGTTGT 0.394 7 616 --- --- --- --- BNIP1 662 broad.mit.edu 37 5 172578611 172578611 + Frame_Shift_Del DEL T T - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr5:172578611delT ENST00000231668.9 + 3 324 c.220delT c.(220-222)ttfs p.F76fs BNIP1_ENST00000393770.4_Intron|BNIP1_ENST00000352523.6_Frame_Shift_Del_p.F76fs|BNIP1_ENST00000351486.5_Intron NM_013979.2 NP_053582.2 Q12981 SEC20_HUMAN BCL2/adenovirus E1B 19kDa interacting protein 1 59 anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex protein binding breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1) 11 Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) TGCTTCCACATTTTTTTTTAA 0.348 17 526 --- --- --- --- FAM8A1 51439 broad.mit.edu 37 6 17600910 17600910 + Frame_Shift_Del DEL G G - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr6:17600910delG ENST00000259963.3 + 1 325 c.270delG c.(268-270)cafs p.Q90fs NM_016255.2 NP_057339.1 Q9UBU6 FA8A1_HUMAN family with sequence similarity 8, member A1 90 integral to membrane endometrium(1)|large_intestine(2)|lung(3) 6 Breast(50;0.0259)|Ovarian(93;0.0584) all_hematologic(90;0.143) all cancers(50;0.176)|Epithelial(50;0.204) TGCAGGAGCAGGCGGGCTGCG 0.741 10 96 --- --- --- --- SLC17A2 10246 broad.mit.edu 37 6 25921520 25921520 + Frame_Shift_Del DEL T T - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr6:25921520delT ENST00000377850.3 - 4 885 c.361delA c.(361-363)tgfs p.M121fs SLC17A2_ENST00000360488.3_Frame_Shift_Del_p.M121fs|SLC17A2_ENST00000265425.3_Frame_Shift_Del_p.M121fs O00624 NPT3_HUMAN solute carrier family 17, member 2 121 phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity p.M121fs*7(1) endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 31 GCACCAAGCATTTTTTTTGCT 0.453 10 431 --- --- --- --- HLA-F 3134 broad.mit.edu 37 6 29694802 29694803 + Frame_Shift_Ins INS - - T rs17875385 TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr6:29694802_29694803insT ENST00000259951.7 + 7 1235_1236 c.1179_1180insT c.(1177-1182)ttttttfs p.FF393fs HLA-F_ENST00000475996.1_Intron|HLA-F_ENST00000440587.2_Intron NM_001098479.1 NP_001091949.1 P30511 HLAF_HUMAN major histocompatibility complex, class I, F 0 antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex MHC class I receptor activity cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 8 TGTGGATCTTGTTTTTTTTGTG 0.535 19 1630 --- --- --- --- PPP1R18 170954 broad.mit.edu 37 6 30653494 30653496 + In_Frame_Del DEL TGC TGC - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 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 14 506 --- --- --- --- UHRF1BP1 54887 broad.mit.edu 37 6 34826124 34826124 + Frame_Shift_Del DEL T T - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr6:34826124delT ENST00000192788.5 + 14 2162 c.1991delT c.(1990-1992)ctfs p.L664fs UHRF1BP1_ENST00000452449.2_Frame_Shift_Del_p.L664fs NM_017754.3 NP_060224.3 Q6BDS2 URFB1_HUMAN UHRF1 binding protein 1 664 p.L666fs*15(1) breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 54 CTGCACATGCTTTTTTTGCAT 0.502 11 736 --- --- --- --- MDFI 4188 broad.mit.edu 37 6 41621169 41621171 + In_Frame_Del DEL CTG CTG - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 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 12 701 --- --- --- --- ZNF318 24149 broad.mit.edu 37 6 43308089 43308089 + Frame_Shift_Del DEL T T - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr6:43308089delT ENST00000361428.2 - 10 3724 c.3647delA c.(3646-3648)agfs p.K1216fs ZNF318_ENST00000318149.3_Intron NM_014345.2 NP_055160.2 Q5VUA4 ZN318_HUMAN zinc finger protein 318 1216 Lys-rich. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) AGCCTTTGCCTTTTTTTCTTT 0.463 7 1618 --- --- --- --- ZNF318 24149 broad.mit.edu 37 6 43323502 43323502 + Frame_Shift_Del DEL T T - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr6:43323502delT ENST00000361428.2 - 4 1647 c.1570delA c.(1570-1572)ggfs p.R526fs ZNF318_ENST00000318149.3_Frame_Shift_Del_p.R526fs NM_014345.2 NP_055160.2 Q5VUA4 ZN318_HUMAN zinc finger protein 318 526 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) CTACGTCGCCTTTTTTCCTGT 0.493 11 2256 --- --- --- --- TDRD6 221400 broad.mit.edu 37 6 46660414 46660415 + Frame_Shift_Ins INS - - A rs145334816 TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr6:46660414_46660415insA ENST00000544460.1 + 1 4803_4804 c.4549_4550insA c.(4549-4551)aaafs p.K1517fs TDRD6_ENST00000316081.6_Frame_Shift_Ins_p.K1517fs NM_001168359.1 NP_001161831.1 O60522 TDRD6_HUMAN tudor domain containing 6 1517 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) GTATAATCCAGAAAAAAAAATG 0.351 14 511 --- --- --- --- SYNCRIP 10492 broad.mit.edu 37 6 86332353 86332354 + Frame_Shift_Ins INS - - T TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr6:86332353_86332354insT ENST00000355238.6 - 8 1060_1061 c.854_855insA c.(853-855)aagfs p.K285fs SYNCRIP_ENST00000369622.3_Frame_Shift_Ins_p.K285fs NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1 NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1 O60506 HNRPQ_HUMAN synaptotagmin binding, cytoplasmic RNA interacting protein 285 RRM 2. CRD-mediated mRNA stabilization|interspecies interaction between organisms catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm nucleotide binding|protein binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 33 all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297) BRCA - Breast invasive adenocarcinoma(108;0.0389) AAAAGCCTCTGTTTTTTTTCTT 0.411 12 1011 --- --- --- --- GRM1 2911 broad.mit.edu 37 6 146350671 146350672 + Frame_Shift_Ins INS - - T TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr6:146350671_146350672insT ENST00000392299.2 + 2 488_489 c.18_19insT c.(16-21)ttttttfs p.FF6fs GRM1_ENST00000492807.2_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000355289.4_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000361719.2_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000507907.1_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000282753.1_Frame_Shift_Ins_p.FF6fs Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 6 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) GGCTCCTTTTGTTTTTTTTCCC 0.644 8 1043 --- --- --- --- GRM1 2911 broad.mit.edu 37 6 146755630 146755632 + In_Frame_Del DEL GAC GAC - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr6:146755630_146755632delGAC ENST00000361719.2 + 9 3753_3755 c.3283_3285delGAC c.(3283-3285)del p.D1099del GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000282753.1_In_Frame_Del_p.D1099del NM_001278064.1 NP_001264993.1 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 1099 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) CCCGCCCGCGGACGACGACGACG 0.650 11 631 --- --- --- --- STK31 56164 broad.mit.edu 37 7 23775341 23775341 + Frame_Shift_Del DEL A A - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr7:23775341delA ENST00000354639.3 + 7 1063 c.599delA c.(598-600)gafs p.E200fs STK31_ENST00000355870.3_Frame_Shift_Del_p.E223fs|STK31_ENST00000433467.2_Frame_Shift_Del_p.E223fs|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Frame_Shift_Del_p.E200fs NM_001260504.1|NM_032944.3 NP_001247433.1|NP_116562.2 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 223 ATP binding|nucleic acid binding|protein serine/threonine kinase activity p.E223V(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 ATCTGTGAGGAAAAAAAATTG 0.473 7 496 --- --- --- --- HOXA11 3207 broad.mit.edu 37 7 27222461 27222462 + Frame_Shift_Ins INS - - T TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr7:27222461_27222462insT ENST00000006015.3 - 2 966_967 c.895_896insA c.(895-897)taafs p.*299fs NM_005523.5 NP_005514.1 P31270 HXA11_HUMAN homeobox A11 299 branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation protein-DNA complex|transcription factor complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2) 16 GTCTCTGTTAATTTTTTTTTCC 0.446 T NUP98 CML 8 673 --- --- --- --- ABCA13 154664 broad.mit.edu 37 7 48318519 48318519 + Frame_Shift_Del DEL A A - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr7:48318519delA ENST00000435803.1 + 18 7752 c.7728delA c.(7726-7728)ttfs p.L2576fs NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 2576 transport integral to membrane ATP binding|ATPase activity p.L2576F(3)|p.L2521F(2) breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 TAGCTACTTTAAAAAAAATAG 0.313 10 571 --- --- --- --- INTS4L2 0 broad.mit.edu 37 7 65150816 65150816 + RNA DEL A A - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr7:65150816delA ENST00000430126.2 + 0 757 TTCATCCCTCACCCCCCCCCC 0.463 10 96 --- --- --- --- STYXL1 51657 broad.mit.edu 37 7 75651194 75651196 + In_Frame_Del DEL ATC ATC - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr7:75651194_75651196delATC ENST00000451157.1 - 4 449_451 c.280_282delGAT c.(280-282)del p.D94del STYXL1_ENST00000460184.2_5'UTR|STYXL1_ENST00000360591.3_In_Frame_Del_p.D94del|STYXL1_ENST00000359697.3_In_Frame_Del_p.D94del|STYXL1_ENST00000431581.1_In_Frame_Del_p.D94del|STYXL1_ENST00000340062.5_Intron|STYXL1_ENST00000248600.1_In_Frame_Del_p.D94del Q9Y6J8 STYL1_HUMAN serine/threonine/tyrosine interacting-like 1 94 Rhodanese. intracellular signal transduction|protein dephosphorylation intracellular protein binding|protein tyrosine/serine/threonine phosphatase activity endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 10 CAGAGTCTGAATCATCATCATCA 0.433 9 1794 --- --- --- --- PEX1 5189 broad.mit.edu 37 7 92146721 92146721 + Frame_Shift_Del DEL T T - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr7:92146721delT ENST00000248633.4 - 5 1203 c.1108delA c.(1108-1110)ttfs p.I370fs PEX1_ENST00000428214.1_Frame_Shift_Del_p.I370fs|PEX1_ENST00000541751.1_5'UTR|PEX1_ENST00000438045.1_Intron NM_000466.2 NP_000457.1 O43933 PEX1_HUMAN peroxisomal biogenesis factor 1 370 microtubule-based peroxisome localization|protein import into peroxisome matrix cytosol|nucleus|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592) Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123) GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) TCTGACCTAATTTTTTTTTGA 0.353 15 973 --- --- --- --- WASL 8976 broad.mit.edu 37 7 123332873 123332875 + In_Frame_Del DEL GGA GGA - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr7:123332873_123332875delGGA ENST00000223023.4 - 9 1205_1207 c.873_875delTCC c.(871-876)ccc>cc p.PP293del NM_003941.2 NP_003932.3 O00401 WASL_HUMAN Wiskott-Aldrich syndrome-like 293 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 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 gtgtggagggggaggaggaggag 0.567 9 578 --- --- --- --- TRBV7-8 0 broad.mit.edu 37 7 142099805 142099806 + RNA DEL AC AC - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr7:142099805_142099806delAC ENST00000390359.3 - 0 88 TAGTCATcatacacacacacac 0.441 17 372 --- --- --- --- TRBV7-6 0 broad.mit.edu 37 7 142139683 142139684 + RNA INS - - A TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr7:142139683_142139684insA ENST00000390374.3 - 0 94 cctacacacaGAAAAAAAAATG 0.490 11 422 --- --- --- --- PRSS3P2 0 broad.mit.edu 37 7 142482025 142482025 + RNA DEL A A - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr7:142482025delA ENST00000603901.1 + 0 591 NR_001296.3 TGCAGTGCCCACATGGAGAAG 0.572 10 125 --- --- --- --- SSPO 23145 broad.mit.edu 37 7 149515189 149515189 + RNA DEL A A - rs112122477 TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr7:149515189delA ENST00000378016.2 + 0 11577 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GACCTCGAGTAACTGCCCCAG 0.667 28 20 --- --- --- --- MCPH1 79648 broad.mit.edu 37 8 6289099 6289099 + Frame_Shift_Del DEL A A - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr8:6289099delA ENST00000344683.5 + 4 389 c.313delA c.(313-315)aafs p.K107fs MCPH1_ENST00000519480.1_Frame_Shift_Del_p.K107fs|MCPH1_ENST00000522905.1_Frame_Shift_Del_p.K107fs NM_024596.3 NP_078872.2 Q8NEM0 MCPH1_HUMAN microcephalin 1 107 microtubule organizing center AGPAT5/MCPH1(2) central_nervous_system(1)|large_intestine(4)|skin(1) 6 Hepatocellular(245;0.0663) Colorectal(4;0.0505) AAGCCTAATTAAAAAAAAAGT 0.274 9 538 --- --- --- --- RAB11FIP1 80223 broad.mit.edu 37 8 37728933 37728933 + Frame_Shift_Del DEL T T - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr8:37728933delT ENST00000330843.4 - 4 3399 c.3387delA c.(3385-3387)aafs p.K1129fs RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000287263.4_Intron NM_001002814.2 NP_001002814.2 Q6WKZ4 RFIP1_HUMAN RAB11 family interacting protein 1 (class I) 1129 protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 49 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) CTGCTGTGGCTTTTTTTTGAG 0.542 OREG0018713 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 1404 --- --- --- --- PRKDC 5591 broad.mit.edu 37 8 48746799 48746799 + Frame_Shift_Del DEL T T - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr8:48746799delT ENST00000314191.2 - 60 8163 c.8107delA c.(8107-8109)ggfs p.R2703fs PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Frame_Shift_Del_p.R2703fs NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 2704 KIP-binding. cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) AGGCCCAGCCTTTTTTTCCCA 0.498 Non-homologous end-joining 8 2166 --- --- --- --- CHD7 55636 broad.mit.edu 37 8 61766990 61766991 + Frame_Shift_Ins INS - - A TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr8:61766990_61766991insA ENST00000423902.2 + 32 7323_7324 c.6844_6845insA c.(6844-6846)aacfs p.N2282fs CHD7_ENST00000524602.1_Intron NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 2282 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) TGCTAGAGATGAAACCCGAGAT 0.450 19 308 --- --- --- --- RUNX1T1 862 broad.mit.edu 37 8 92998419 92998419 + Frame_Shift_Del DEL T T - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr8:92998419delT ENST00000523629.1 - 9 1666 c.1212delA c.(1210-1212)aafs p.K404fs RUNX1T1_ENST00000520724.1_Frame_Shift_Del_p.K367fs|RUNX1T1_ENST00000436581.2_Frame_Shift_Del_p.K415fs|RUNX1T1_ENST00000396218.1_Frame_Shift_Del_p.K377fs|RUNX1T1_ENST00000360348.2_Frame_Shift_Del_p.K367fs|RUNX1T1_ENST00000265814.3_Frame_Shift_Del_p.K404fs|RUNX1T1_ENST00000518844.1_Frame_Shift_Del_p.K377fs|RUNX1T1_ENST00000422361.2_Frame_Shift_Del_p.K367fs NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2 NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1 Q06455 MTG8_HUMAN runt-related transcription factor 1; translocated to, 1 (cyclin D-related) 404 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 86 BRCA - Breast invasive adenocarcinoma(11;0.0141) TGCCGCCACCTTTTTTTAAGT 0.517 9 836 --- --- --- --- TP53INP1 0 broad.mit.edu 37 8 95952409 95952411 + In_Frame_Del DEL TCT TCT - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr8:95952409_95952411delTCT ENST00000342697.4 - 3 557_559 c.150_152delAGA c.(148-153)gag>ga p.EE50del NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000448464.2_In_Frame_Del_p.EE50del|TP53INP1_ENST00000378776.4_In_Frame_Del_p.EE50del NM_033285.3 NP_150601.1 Q96A56 T53I1_HUMAN tumor protein p53 inducible nuclear protein 1 50 Glu-rich. apoptosis PML body p.E50E(1) kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 9 Breast(36;8.75e-07) GATGTCCTCCTCTTCTTCTTCTT 0.458 10 336 --- --- --- --- PABPC1 26986 broad.mit.edu 37 8 101724994 101724995 + Frame_Shift_Ins INS - - A rs140822921 by1000genomes TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 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 14 455 --- --- --- --- KIAA0020 9933 broad.mit.edu 37 9 2837296 2837296 + Frame_Shift_Del DEL T T - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr9:2837296delT ENST00000397885.2 - 3 394 c.188delA c.(187-189)agfs p.K63fs NM_014878.4 NP_055693.4 Q15397 K0020_HUMAN KIAA0020 63 endoplasmic reticulum|nucleolus RNA binding NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1) 21 GBM - Glioblastoma multiforme(50;0.0319) CTTTACACCCTTTTTCCCAAG 0.388 9 1499 --- --- --- --- CDKN2A 1029 broad.mit.edu 37 9 21974764 21974784 + In_Frame_Del DEL GGCCGCGGCCGTGGCCAGCCA GGCCGCGGCCGTGGCCAGCCA - rs138677674 TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr9:21974764_21974784delGGCCGCGGCCGTGGCCAGCCA ENST00000304494.5 - 1 313_333 c.43_63delTGGCTGGCCACGGCCGCGGCC c.(43-63)del p.WLATAAA15del CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000498124.1_In_Frame_Del_p.WLATAAA15del|CDKN2A_ENST00000446177.1_In_Frame_Del_p.WLATAAA15del|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000579122.1_In_Frame_Del_p.WLATAAA15del NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 15 cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(23)|p.W15*(7)|p.L16fs*9(4)|p.A20P(3)|p.A19_A20insTA(3)|p.A20A(2)|p.A20T(2)|p.T18P(2)|p.A21D(2)|p.L16P(2)|p.L16_A17insAT(1)|p.W15L(1)|p.R22fs*14(1)|p.S12fs*20(1)|p.A20E(1)|p.S7_A19del(1)|p.S12fs*6(1)|p.0(1)|p.A17_T18insTA(1)|p.T18M(1)|p.A20fs*26(1)|p.A20_A21del(1)|p.A17fs*5(1)|p.A20S(1)|p.A17T(1)|p.L16R(1)|p.A20fs*6(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CCCGACCCCGGGCCGCGGCCGTGGCCAGCCAGTCAGCCGAA 0.747 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 74 411 --- --- --- --- HRCT1 646962 broad.mit.edu 37 9 35906596 35906601 + In_Frame_Del DEL CCACCC CCACCC - rs112212538 by1000genomes TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr9:35906596_35906601delCCACCC ENST00000354323.2 + 1 408_413 c.312_317delCCACCC c.(310-318)cac>ca p.HHP104del NM_001039792.1 NP_001034881.1 Q6UXD1 HRCT1_HUMAN histidine rich carboxyl terminus 1 104 His-rich. integral to membrane NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1) 4 accaccaccaccacccccaccgccac 0.670 13 72 --- --- --- --- ZCCHC7 84186 broad.mit.edu 37 9 37357249 37357250 + Frame_Shift_Ins INS - - A rs1051465 TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr9:37357249_37357250insA ENST00000336755.5 + 9 1722_1723 c.1616_1617insA c.(1615-1617)aaafs p.K539fs ZCCHC7_ENST00000534928.1_Frame_Shift_Ins_p.K249fs|ZCCHC7_ENST00000461038.1_3'UTR NM_032226.2 NP_115602.2 Q8N3Z6 ZCHC7_HUMAN zinc finger, CCHC domain containing 7 539 R -> K (in dbSNP:rs1051465). nucleic acid binding|zinc ion binding central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 30 GBM - Glioblastoma multiforme(29;0.0137) ATTAAGCAGAGAAAAAAAAAGT 0.411 7 382 --- --- --- --- ANKRD19P 0 broad.mit.edu 37 9 95599088 95599089 + RNA DEL CA CA - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr9:95599088_95599089delCA ENST00000473204.1 + 0 1169_1170 TTCACGGGCGCACACACACACA 0.421 9 405 --- --- --- --- SETX 23064 broad.mit.edu 37 9 135203911 135203913 + In_Frame_Del DEL TCA TCA - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr9:135203911_135203913delTCA ENST00000372169.2 - 10 3254_3256 c.3072_3074delTGA c.(3070-3075)gaa>ga p.DE1024del SETX_ENST00000393220.1_In_Frame_Del_p.DE1024del|SETX_ENST00000224140.5_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 7 840 --- --- --- --- SURF6 6838 broad.mit.edu 37 9 136199557 136199557 + Frame_Shift_Del DEL T T - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr9:136199557delT ENST00000372022.4 - 4 698 c.433delA c.(433-435)ggfs p.R148fs SURF6_ENST00000468290.1_5'UTR NM_006753.4 NP_006744.2 O75683 SURF6_HUMAN surfeit 6 148 granular component DNA binding|RNA binding endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 12 OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05) CTCCGCCGCCTTTTCTCCAAG 0.632 8 1228 --- --- --- --- SYT15 83849 broad.mit.edu 37 10 46969401 46969403 + In_Frame_Del DEL CAG CAG - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr10:46969401_46969403delCAG ENST00000374325.3 - 2 210_212 c.58_60delCTG c.(58-60)del p.L21del SYT15_ENST00000374321.4_In_Frame_Del_p.L21del|SYT15_ENST00000374323.3_Intron|SYT15_ENST00000503753.1_In_Frame_Del_p.L21del NM_181519.2 NP_852660.1 Q9BQS2 SYT15_HUMAN synaptotagmin XV 21 integral to membrane|plasma membrane cervix(1)|endometrium(5)|kidney(2)|lung(5) 13 CCCCGATCAACAGCAGCAGCAGC 0.631 8 184 --- --- --- --- ANK3 288 broad.mit.edu 37 10 61828745 61828747 + In_Frame_Del DEL GTG GTG - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr10:61828745_61828747delGTG ENST00000280772.1 - 37 12083_12085 c.11892_11894delCAC c.(11890-11895)act>ac p.TT3964del ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_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 7 848 --- --- --- --- JMJD1C 221037 broad.mit.edu 37 10 64952699 64952699 + Splice_Site DEL T T - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr10:64952699delT ENST00000399262.2 - 16 6293 c.6076_splice c.e16+1 p.K2025_splice JMJD1C_ENST00000402544.1_Splice_Site_p.K1788_splice|JMJD1C_ENST00000542921.1_Splice_Site_p.K1843_splice|JMJD1C_ENST00000399251.1_3'UTR NM_032776.1 NP_116165.1 Q15652 JHD2C_HUMAN jumonji domain containing 1C 2025 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) TATGTTTACCTTTTTTTTCCT 0.373 8 690 --- --- --- --- DNAJC12 56521 broad.mit.edu 37 10 69565430 69565433 + Frame_Shift_Del DEL TCTT TCTT - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr10:69565430_69565433delTCTT ENST00000225171.2 - 4 562_565 c.410_413delAAGA c.(409-414)agfs p.KE137fs DNAJC12_ENST00000483798.2_Frame_Shift_Del_p.KE167fs NM_021800.2 NP_068572.1 Q9UKB3 DJC12_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 12 137 protein folding heat shock protein binding|unfolded protein binding breast(2)|kidney(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1) 12 AGCCAGCTCCTCTTTCTTTCTTTC 0.446 7 1680 --- --- --- --- CCAR1 55749 broad.mit.edu 37 10 70509285 70509286 + Frame_Shift_Del DEL GA GA - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr10:70509285_70509286delGA ENST00000265872.6 + 10 1080_1081 c.961_962delGA c.(961-963)gfs p.E321fs CCAR1_ENST00000535016.1_Frame_Shift_Del_p.E306fs|CCAR1_ENST00000543719.1_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 11 284 --- --- --- --- ZMIZ1 57178 broad.mit.edu 37 10 81072446 81072446 + Frame_Shift_Del DEL C C - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr10:81072446delC ENST00000334512.5 + 25 3716 c.3144delC c.(3142-3144)gafs p.D1048fs ZMIZ1_ENST00000446377.2_Frame_Shift_Del_p.D114fs NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 1048 transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) CTTATCTGGACCCCCCCGACC 0.557 8 1541 --- --- --- --- TM9SF3 56889 broad.mit.edu 37 10 98336475 98336475 + Frame_Shift_Del DEL T T - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 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 12 857 --- --- --- --- ABCC2 1244 broad.mit.edu 37 10 101559000 101559000 + Frame_Shift_Del DEL A A - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr10:101559000delA ENST00000370449.4 + 8 1017 c.904delA c.(904-906)aafs p.K303fs NM_000392.3 NP_000383.1 Q92887 MRP2_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 2 303 apical plasma membrane|integral to plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 67 Colorectal(252;0.234) Epithelial(162;2.77e-10)|all cancers(201;2.47e-08) Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) GTCTGGGACCAAAAAAGATGT 0.403 8 1636 --- --- --- --- MKI67 4288 broad.mit.edu 37 10 129913974 129913974 + Frame_Shift_Del DEL T T - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr10:129913974delT ENST00000368654.3 - 7 1073 c.698delA c.(697-699)atfs p.N233fs MKI67_ENST00000368653.3_Intron NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 233 cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) GGGAGATTCATTTTTTTTGCT 0.343 8 362 --- --- --- --- TSPAN4 0 broad.mit.edu 37 11 864443 864445 + In_Frame_Del DEL CTG CTG - rs61867552 byFrequency TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr11:864443_864445delCTG ENST00000397404.1 + 5 521_523 c.262_264delCTG c.(262-264)del p.L92del TSPAN4_ENST00000397406.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000346501.4_In_Frame_Del_p.L92del|TSPAN4_ENST00000409531.1_In_Frame_Del_p.L111del|TSPAN4_ENST00000397411.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000525201.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000409543.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000397408.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000397396.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000397397.2_In_Frame_Del_p.L92del NM_001025237.1 NP_001020408.1 O14817 TSN4_HUMAN tetraspanin 4 92 protein complex assembly integral to plasma membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1) 3 all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24) all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) ACAGTTCTTCCTGCTGCTGCTGC 0.650 11 750 --- --- --- --- RRP8 23378 broad.mit.edu 37 11 6623336 6623338 + In_Frame_Del DEL TCC TCC - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr11:6623336_6623338delTCC ENST00000254605.6 - 2 324_326 c.207_209delGGA c.(205-210)gaa>ga p.EE69del RRP8_ENST00000534343.1_Intron NM_015324.3 NP_056139.1 O43159 RRP8_HUMAN ribosomal RNA processing 8, methyltransferase, homolog (yeast) 69 Poly-Glu. chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2) 13 CTTCTTCCTTTCCTCCTCCTCCT 0.532 8 513 --- --- --- --- OR10A5 144124 broad.mit.edu 37 11 6867223 6867225 + In_Frame_Del DEL TTC TTC - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr11:6867223_6867225delTTC ENST00000299454.4 + 1 341_343 c.310_312delTTC c.(310-312)del p.F108del OR10A5_ENST00000379831.2_In_Frame_Del_p.F112del Q9H207 O10A5_HUMAN olfactory receptor, family 10, subfamily A, member 5 108 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2) 21 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) TCAGATGTATTTCTTCTTCTTCT 0.517 10 836 --- --- --- --- MICALCL 84953 broad.mit.edu 37 11 12316384 12316389 + In_Frame_Del DEL CTCCTA CTCCTA - rs3812754 byFrequency TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr11:12316384_12316389delCTCCTA ENST00000256186.2 + 3 1697_1702 c.1406_1411delCTCCTA c.(1405-1413)cca>c p.PPT469del NM_032867.2 NP_116256.2 Q6ZW33 MICLK_HUMAN MICAL C-terminal like 469 Poly-Pro. cell differentiation|multicellular organismal development|spermatogenesis cytoplasm mitogen-activated protein kinase binding p.T471delT(2) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 30 Epithelial(150;0.00177) cctcctcctcctcctACAGCGGGAGG 0.573 49 54 --- --- --- --- MUC15 143662 broad.mit.edu 37 11 26587427 26587427 + Frame_Shift_Del DEL T T - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr11:26587427delT ENST00000436318.2 - 2 193 c.60delA c.(58-60)aafs p.K20fs ANO3_ENST00000256737.3_Intron|MUC15_ENST00000529533.1_Frame_Shift_Del_p.K20fs|ANO3_ENST00000537978.1_Intron|MUC15_ENST00000281268.8_Frame_Shift_Del_p.K20fs|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000455601.2_5'UTR|MUC15_ENST00000527569.1_Frame_Shift_Del_p.K20fs|ANO3_ENST00000525139.1_Intron Q8N387 MUC15_HUMAN mucin 15, cell surface associated 0 extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 25 TTGGTATTGGTTTTTTTTTAA 0.289 9 276 --- --- --- --- APIP 51074 broad.mit.edu 37 11 34910341 34910341 + Frame_Shift_Del DEL T T - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr11:34910341delT ENST00000395787.3 - 4 497 c.283delA c.(283-285)gcfs p.S95fs APIP_ENST00000278359.5_Frame_Shift_Del_p.S112fs|APIP_ENST00000527830.1_5'UTR NM_015957.2 NP_057041.2 Q96GX9 MTNB_HUMAN APAF1 interacting protein 95 apoptosis|L-methionine salvage cytoplasm identical protein binding|metal ion binding|methylthioribulose 1-phosphate dehydratase activity kidney(2)|lung(1)|skin(1) 4 all_epithelial(35;0.161) all_hematologic(20;0.107) STAD - Stomach adenocarcinoma(6;0.000425) GTACACTGGCTTTTTTTTAGC 0.343 9 440 --- --- --- --- CKAP5 9793 broad.mit.edu 37 11 46829683 46829683 + Frame_Shift_Del DEL T T - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr11:46829683delT ENST00000529230.1 - 8 922 c.876delA c.(874-876)aafs p.K292fs CKAP5_ENST00000312055.5_Frame_Shift_Del_p.K292fs|CKAP5_ENST00000354558.3_Frame_Shift_Del_p.K292fs|CKAP5_ENST00000415402.1_Frame_Shift_Del_p.K292fs Q14008 CKAP5_HUMAN cytoskeleton associated protein 5 292 cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization centrosome|cytosol protein binding breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 43 TCTCTTGCCATTTTTTTGCCT 0.363 12 1466 --- --- --- --- FAM111B 374393 broad.mit.edu 37 11 58892377 58892377 + Frame_Shift_Del DEL A A - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr11:58892377delA ENST00000343597.3 + 4 998 c.807delA c.(805-807)tcfs p.S269fs FAM111B_ENST00000529618.1_Frame_Shift_Del_p.S239fs|FAM111B_ENST00000411426.1_Frame_Shift_Del_p.S239fs NM_198947.3 NP_945185.1 Q6SJ93 F111B_HUMAN family with sequence similarity 111, member B 269 catalytic activity p.A273fs*9(1)|p.K272delK(1)|p.A273fs*26(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1) 40 TGGACATTTCAAAAAAAAAAG 0.313 19 350 --- --- --- --- MYRF 745 broad.mit.edu 37 11 61539013 61539013 + Frame_Shift_Del DEL C C - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr11:61539013delC ENST00000278836.5 + 6 878 c.782delC c.(781-783)tcfs p.S261fs TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Frame_Shift_Del_p.S252fs NM_001127392.1 NP_001120864.1 myelin regulatory factor p.S255fs*74(1) CACTCTGAATCCCCCCCCAGC 0.637 7 870 --- --- --- --- TSKU 25987 broad.mit.edu 37 11 76506673 76506675 + In_Frame_Del DEL CTG CTG - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr11:76506673_76506675delCTG ENST00000527881.1 + 2 1039_1041 c.13_15delCTG c.(13-15)del p.L9del TSKU_ENST00000333090.4_In_Frame_Del_p.L9del Q8WUA8 TSK_HUMAN tsukushi, small leucine rich proteoglycan 9 extracellular region NS(1)|large_intestine(4)|lung(6)|urinary_tract(1) 12 Ovarian(111;0.112) GCCGTGGCCCCTGCTGCTGCTGC 0.616 13 423 --- --- --- --- SYTL2 54843 broad.mit.edu 37 11 85437269 85437269 + Frame_Shift_Del DEL T T - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr11:85437269delT ENST00000359152.5 - 1 1802 c.1803delA c.(1801-1803)aafs p.K601fs SYTL2_ENST00000525423.1_Frame_Shift_Del_p.K77fs|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000354566.3_Frame_Shift_Del_p.K77fs|SYTL2_ENST00000389960.4_Intron NM_206928.2 NP_996811.1 Q9HCH5 SYTL2_HUMAN synaptotagmin-like 2 113 Ser-rich. intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) TTGCCATAACTTTTTTTGGGC 0.373 8 833 --- --- --- --- NOX4 50507 broad.mit.edu 37 11 89106662 89106663 + Splice_Site INS - - A rs56022003 TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr11:89106662_89106663insA ENST00000535633.1 - 12 1313 c.e12-2 NOX4_ENST00000542487.1_Splice_Site|NOX4_ENST00000528341.1_Splice_Site|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000527956.1_Splice_Site|NOX4_ENST00000375979.3_Splice_Site|NOX4_ENST00000527626.1_Splice_Site|NOX4_ENST00000532825.1_Splice_Site|NOX4_ENST00000424319.1_Splice_Site|NOX4_ENST00000413594.2_Splice_Site|NOX4_ENST00000534731.1_Splice_Site|NOX4_ENST00000531342.1_Splice_Site|NOX4_ENST00000343727.5_Splice_Site|NOX4_ENST00000263317.4_Splice_Site NM_001143836.1|NM_016931.3 NP_001137308.1|NP_058627.1 Q9NPH5 NOX4_HUMAN NADPH oxidase 4 cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity p.?(1) NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2) 44 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011) AGTTGGACACTAAAAAAAAATA 0.292 13 852 --- --- --- --- FOLH1B 219595 broad.mit.edu 37 11 89407177 89407177 + RNA DEL C C - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 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 7 215 --- --- --- --- CWC15 51503 broad.mit.edu 37 11 94704199 94704199 + Frame_Shift_Del DEL T T - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr11:94704199delT ENST00000279839.6 - 4 397 c.275delA c.(274-276)agfs p.K92fs CWC15_ENST00000545018.1_5'UTR NM_016403.3 NP_057487.2 Q9P013 CWC15_HUMAN CWC15 spliceosome-associated protein homolog (S. cerevisiae) 92 nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome protein binding|RNA binding Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) TAACCGTGGCTTTTTTGACAC 0.373 7 999 --- --- --- --- MMP12 4321 broad.mit.edu 37 11 102738793 102738794 + RNA INS - - T rs35342965 by1000genomes TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 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 11 60 --- --- --- --- DDX10 1662 broad.mit.edu 37 11 108788635 108788637 + In_Frame_Del DEL TGA TGA - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr11:108788635_108788637delTGA ENST00000526794.1 + 17 2372_2374 c.2340_2342delTGA c.(2338-2343)agt>ag p.SD780del DDX10_ENST00000322536.3_In_Frame_Del_p.SD780del Q13206 DDX10_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 780 ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2) 27 all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729) BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133) TGGATTGGAGtgatgatgatgat 0.355 T NUP98 AML* 10 564 --- --- --- --- DDX6 1656 broad.mit.edu 37 11 118629613 118629614 + Splice_Site INS - - G TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr11:118629613_118629614insG ENST00000264018.4 - 9 1170 c.e9-2 DDX6_ENST00000526070.2_Splice_Site|DDX6_ENST00000534980.1_Splice_Site NM_004397.4 NP_004388.2 P26196 DDX6_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 6 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1) 13 all_hematologic(175;0.0839) Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103) OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377) ATGGGAATTCTGGGGGGGGAGC 0.426 T IGH@ B-NHL 10 901 --- --- --- --- BCL9L 283149 broad.mit.edu 37 11 118773004 118773004 + Frame_Shift_Del DEL G G - rs147951163 byFrequency TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr11:118773004delG ENST00000334801.3 - 6 2412 c.1448delC c.(1447-1449)cgfs p.P483fs BCL9L_ENST00000526143.1_5'UTR NM_182557.2 NP_872363.1 Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like 483 Necessary for interaction with CTNNB1 (By similarity).|Pro-rich. negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 56 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) ATGCTCCAGCGGGGGGCCCCC 0.642 8 1065 --- --- --- --- FOXJ2 55810 broad.mit.edu 37 12 8200558 8200560 + In_Frame_Del DEL CAG CAG - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 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 15 279 --- --- --- --- SLCO1B3 28234 broad.mit.edu 37 12 21028267 21028267 + Frame_Shift_Del DEL T T - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr12:21028267delT ENST00000381545.3 + 9 1045 c.826delT c.(826-828)ttfs p.F278fs SLCO1B3_ENST00000553473.1_Frame_Shift_Del_p.F278fs|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000261196.2_Frame_Shift_Del_p.F278fs|LST3_ENST00000540229.1_Frame_Shift_Del_p.F278fs|SLCO1B7_ENST00000554957.1_Intron NM_019844.3 NP_062818.1 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, member 1B3 278 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2) 63 Esophageal squamous(101;0.149) TTCCATACCATTTTTTTTCTT 0.363 8 666 --- --- --- --- FAR2 55711 broad.mit.edu 37 12 29450110 29450110 + Frame_Shift_Del DEL A A - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr12:29450110delA ENST00000182377.4 + 4 790 c.522delA c.(520-522)ccfs p.P174fs RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000536681.2_Frame_Shift_Del_p.P174fs|FAR2_ENST00000547116.1_Frame_Shift_Del_p.P77fs NM_018099.3 NP_060569.3 Q96K12 FACR2_HUMAN fatty acyl CoA reductase 2 174 ether lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1) 29 CTGTGGAGCCAAAAAAAATCA 0.388 10 770 --- --- --- --- KRT73 319101 broad.mit.edu 37 12 53001991 53001991 + Frame_Shift_Del DEL T T - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr12:53001991delT ENST00000305748.3 - 9 1646 c.1612delA c.(1612-1614)ccfs p.T538fs RP11-641A6.2_ENST00000551089.1_RNA NM_175068.2 NP_778238.1 Q86Y46 K2C73_HUMAN keratin 73 538 Tail. keratin filament structural molecule activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(357;0.189) TATCTCATGGTTTTTTTGGTG 0.532 8 1369 --- --- --- --- CBX5 23468 broad.mit.edu 37 12 54645832 54645832 + Frame_Shift_Del DEL T T - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr12:54645832delT ENST00000209875.4 - 3 453 c.317delA c.(316-318)agfs p.K106fs CBX5_ENST00000550411.1_Frame_Shift_Del_p.K106fs|CBX5_ENST00000439541.2_Frame_Shift_Del_p.K106fs NM_012117.2 NP_036249.1 P45973 CBX5_HUMAN chromobox homolog 5 106 blood coagulation|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|nuclear centromeric heterochromatin|nuclear envelope|nucleolus|transcriptional repressor complex methylated histone residue binding|protein binding, bridging|repressing transcription factor binding endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2) 8 TACCTCTCTCTTTTTTTTAGA 0.323 8 1159 --- --- --- --- OR10A7 121364 broad.mit.edu 37 12 55615114 55615116 + In_Frame_Del DEL CTT CTT - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr12:55615114_55615116delCTT ENST00000326258.1 + 1 306_308 c.306_308delCTT c.(304-309)tac>ta p.YF102del NM_001005280.1 NP_001005280.1 Q8NGE5 O10A7_HUMAN olfactory receptor, family 10, subfamily A, member 7 102 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3) 24 CCCAGATGTACTTCTTCTTCTTC 0.414 8 1362 --- --- --- --- GCN1L1 10985 broad.mit.edu 37 12 120595737 120595739 + In_Frame_Del DEL CTC CTC - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr12:120595737_120595739delCTC ENST00000300648.6 - 26 3013_3015 c.3001_3003delGAG c.(3001-3003)del p.E1001del NM_006836.1 NP_006827.1 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 1001 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GGGCCATCCACTCCTCCTCCTCC 0.631 12 339 --- --- --- --- DDX55 57696 broad.mit.edu 37 12 124103201 124103202 + Translation_Start_Site DEL TG TG - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr12:124103201_124103202delTG ENST00000421670.3 + 0 639_640 DDX55_ENST00000541259.1_Intron|DDX55_ENST00000538744.1_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) 8 259 --- --- --- --- EP400 57634 broad.mit.edu 37 12 132547093 132547094 + In_Frame_Ins INS - - CAG rs113304321 by1000genomes TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 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_ENST00000389562.2_In_Frame_Ins_p.2726_2726Q>HR|EP400_ENST00000332482.4_In_Frame_Ins_p.2690_2690Q>HR|EP400_ENST00000330386.6_In_Frame_Ins_p.2646_2646Q>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 21 316 --- --- --- --- TPTE2P1 0 broad.mit.edu 37 13 25517701 25517702 + RNA INS - - T TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr13:25517701_25517702insT ENST00000429698.1 - 0 374 ACCATTTGCTATTTTTTTTTCT 0.426 7 465 --- --- --- --- HMGB1 3146 broad.mit.edu 37 13 31036851 31036852 + Splice_Site INS - - A TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr13:31036851_31036852insA ENST00000405805.1 - 4 1237 c.e4-2 HMGB1_ENST00000341423.5_Splice_Site|HMGB1_ENST00000339872.4_Splice_Site|HMGB1_ENST00000326004.4_Splice_Site|HMGB1_ENST00000399494.1_Splice_Site|HMGB1_ENST00000399489.1_Splice_Site P09429 HMGB1_HUMAN high mobility group box 1 base-excision repair, DNA ligation|dendritic cell chemotaxis|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|inflammatory response to antigenic stimulus|innate immune response|myeloid dendritic cell activation|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|neuron projection development|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination cell surface|condensed chromosome|extracellular space|nucleolus|nucleoplasm chemoattractant activity|cytokine activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|repressing transcription factor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|ovary(1) 8 Lung SC(185;0.0257) all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232) AAGGCCGAACTAAAAAAAAAAT 0.376 10 345 --- --- --- --- EEF1DP3 0 broad.mit.edu 37 13 32527507 32527508 + RNA DEL GT GT - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr13:32527507_32527508delGT ENST00000428783.1 + 0 1207_1208 TCTGGCCTGAGTGTGTGTGTGT 0.460 15 341 --- --- --- --- TSC22D1 8848 broad.mit.edu 37 13 45148691 45148693 + In_Frame_Del DEL TGT TGT - rs148625973 TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr13:45148691_45148693delTGT ENST00000458659.2 - 1 2008_2010 c.1518_1520delACA c.(1516-1521)cag>ca p.QQ508del TSC22D1_ENST00000501704.2_In_Frame_Del_p.QQ508del NM_183422.3 NP_904358.2 Q15714 T22D1_HUMAN TSC22 domain family, member 1 508 Gln-rich. transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding transcription factor activity breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118) TGgttgttgctgttgttgttgtt 0.502 7 728 --- --- --- --- TSC22D1 8848 broad.mit.edu 37 13 45148706 45148708 + In_Frame_Del DEL TGC TGC - rs112613609 TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr13:45148706_45148708delTGC ENST00000458659.2 - 1 1993_1995 c.1503_1505delGCA c.(1501-1506)caa>ca p.QQ507del TSC22D1_ENST00000501704.2_In_Frame_Del_p.QQ507del NM_183422.3 NP_904358.2 Q15714 T22D1_HUMAN TSC22 domain family, member 1 507 Gln-rich. transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding transcription factor activity breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118) ttgttgttgttgctgctgctgct 0.507 21 677 --- --- --- --- DIAPH3 81624 broad.mit.edu 37 13 60582733 60582734 + Frame_Shift_Ins INS - - T TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 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_ENST00000377908.2_Frame_Shift_Ins_p.*309fs|DIAPH3_ENST00000267215.4_Frame_Shift_Ins_p.*320fs|DIAPH3_ENST00000465066.1_5'UTR|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 7 797 --- --- --- --- FBXL3 26224 broad.mit.edu 37 13 77581683 77581683 + Frame_Shift_Del DEL A A - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr13:77581683delA ENST00000355619.5 - 5 1208 c.884delT c.(883-885)tafs p.L295fs FBXL3_ENST00000477982.1_Intron NM_012158.2 NP_036290.1 Q9UKT7 FBXL3_HUMAN F-box and leucine-rich repeat protein 3 295 regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytoplasm|nucleus|SCF ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity p.L295fs*3(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1) 16 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218) GBM - Glioblastoma multiforme(99;0.0521) TTCTTCATATAAAAAAAAATA 0.418 14 395 --- --- --- --- KIAA0391 9692 broad.mit.edu 37 14 35592700 35592700 + Frame_Shift_Del DEL T T - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr14:35592700delT ENST00000557565.1 + 2 630 c.249delT c.(247-249)cafs p.H83fs KIAA0391_ENST00000534898.4_Frame_Shift_Del_p.H83fs|KIAA0391_ENST00000321130.10_Frame_Shift_Del_p.H83fs|KIAA0391_ENST00000605870.1_Intron|KIAA0391_ENST00000604948.1_Intron|KIAA0391_ENST00000603544.1_Frame_Shift_Del_p.H83fs|KIAA0391_ENST00000250377.7_5'UTR|KIAA0391_ENST00000603588.1_Intron O15091 MRRP3_HUMAN KIAA0391 83 tRNA processing mitochondrion central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 14 Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184) Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277) GBM - Glioblastoma multiforme(112;0.0593) CTGTTCCTCATTTTTTTTTAG 0.423 15 290 --- --- --- --- MIS18BP1 55320 broad.mit.edu 37 14 45693722 45693722 + Frame_Shift_Del DEL T T - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr14:45693722delT ENST00000310806.4 - 11 2526 c.2068delA c.(2068-2070)gtfs p.S690fs NM_018353.4 NP_060823.3 Q6P0N0 M18BP_HUMAN MIS18 binding protein 1 690 cell division|CenH3-containing nucleosome assembly at centromere|mitosis chromosome, centromeric region|nucleoplasm DNA binding NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 39 CTGATGGGACTTTTTTTTTGA 0.373 23 844 --- --- --- --- FOXN3 1112 broad.mit.edu 37 14 89629149 89629151 + In_Frame_Del DEL GAG GAG - rs139532153 TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr14:89629149_89629151delGAG ENST00000345097.4 - 7 1196_1198 c.1080_1082delCTC c.(1078-1083)tca>tc p.SS360del FOXN3_ENST00000261302.5_In_Frame_Del_p.SS360del|FOXN3_ENST00000557258.1_In_Frame_Del_p.SS338del|FOXN3_ENST00000555353.1_In_Frame_Del_p.SS338del NM_001085471.1 NP_001078940.1 O00409 FOXN3_HUMAN forkhead box N3 360 DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 GTCGTCGGCTGAGGAGGAGGAGG 0.650 9 278 --- --- --- --- BTBD7 55727 broad.mit.edu 37 14 93712186 93712188 + In_Frame_Del DEL TGC TGC - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr14:93712186_93712188delTGC ENST00000334746.5 - 10 2873_2875 c.2566_2568delGCA c.(2566-2568)del p.A856del BTBD7_ENST00000554565.1_In_Frame_Del_p.A505del|BTBD7_ENST00000393170.2_In_Frame_Del_p.A430del NM_001002860.2 NP_001002860.2 Q9P203 BTBD7_HUMAN BTB (POZ) domain containing 7 856 Poly-Ala. breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1) 35 all_cancers(154;0.08) Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223) GCTTCTCAGAtgctgctgctgct 0.537 7 384 --- --- --- --- ATG2B 55102 broad.mit.edu 37 14 96783571 96783572 + Frame_Shift_Ins INS - - T TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr14:96783571_96783572insT ENST00000359933.4 - 20 4013_4014 c.3120_3121insA c.(3118-3123)aatagafs p.NR1040fs NM_018036.5 NP_060506.5 Q96BY7 ATG2B_HUMAN autophagy related 2B 1040 breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7) 64 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) TGAGAGTCTAATTTTTTTTTCC 0.371 8 421 --- --- --- --- IGHV3-21 0 broad.mit.edu 37 14 106691797 106691799 + RNA DEL TAA TAA - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr14:106691797_106691799delTAA ENST00000390607.2 - 0 303_305 GTAGTATATGTAACTACTACTAC 0.517 9 1597 --- --- --- --- HERC2P3 0 broad.mit.edu 37 15 20710570 20710570 + RNA DEL A A - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr15:20710570delA ENST00000428453.1 - 0 157 central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 TACATACCCTAAAAAAAAGCC 0.368 8 251 --- --- --- --- ADAL 161823 broad.mit.edu 37 15 43641115 43641115 + Frame_Shift_Del DEL A A - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr15:43641115delA ENST00000422466.2 + 11 1218 c.644delA c.(643-645)cafs p.Q215fs ADAL_ENST00000428046.3_Frame_Shift_Del_p.Q188fs|ADAL_ENST00000562188.1_Frame_Shift_Del_p.Q215fs|ADAL_ENST00000389651.4_Frame_Shift_Del_p.Q215fs Q6DHV7 ADAL_HUMAN adenosine deaminase-like 215 adenosine catabolic process|inosine biosynthetic process|purine ribonucleoside monophosphate biosynthetic process adenosine deaminase activity|metal ion binding endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1) 7 all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;9.31e-07) ATTCCAAACCAAAAAAAAGAA 0.453 7 343 --- --- --- --- DMXL2 23312 broad.mit.edu 37 15 51773540 51773540 + Frame_Shift_Del DEL T T - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr15:51773540delT ENST00000251076.5 - 24 6050 c.5763delA c.(5761-5763)aafs p.K1921fs DMXL2_ENST00000449909.3_Frame_Shift_Del_p.K1285fs|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Frame_Shift_Del_p.K1921fs NM_001174116.1|NM_015263.3 NP_001167587.1|NP_056078.2 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 1921 cell junction|synaptic vesicle membrane Rab GTPase binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) CAGGCTGATCTTTTTTTGCAG 0.403 8 1070 --- --- --- --- ARID3B 10620 broad.mit.edu 37 15 74888025 74888027 + In_Frame_Del DEL CAG CAG - rs141710149 TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr15:74888025_74888027delCAG ENST00000346246.5 + 9 1824_1826 c.1593_1595delCAG c.(1591-1596)gcc>gc p.AS531del NM_006465.2 NP_006456.1 Q8IVW6 ARI3B_HUMAN AT rich interactive domain 3B (BRIGHT-like) 532 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2) 14 gcagcagcgccagcagcagcagc 0.640 11 258 --- --- --- --- CSPG4P5 0 broad.mit.edu 37 15 84958415 84958426 + RNA DEL CGAGGACATTGG CGAGGACATTGG - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr15:84958415_84958426delCGAGGACATTGG ENST00000558801.1 - 0 6303_6314 TCGGGCACCACGAGGACATTGGTGAGGACAGG 0.557 10 47 --- --- --- --- CHD2 1106 broad.mit.edu 37 15 93545433 93545434 + Frame_Shift_Ins INS - - A TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr15:93545433_93545434insA ENST00000394196.4 + 33 5232_5233 c.4164_4165insA c.(4162-4167)ataaaafs p.IK1388fs CHD2_ENST00000557381.1_Frame_Shift_Ins_p.IK1388fs NM_001271.3 NP_001262.3 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 1388 regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 47 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) AAAGTCCAATgaaaaaaaaaca 0.337 22 703 --- --- --- --- SRRM2 23524 broad.mit.edu 37 16 2808515 2808517 + In_Frame_Del DEL AGA AGA - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr16:2808515_2808517delAGA ENST00000301740.8 + 5 1109_1111 c.560_562delAGA c.(559-564)cag>c p.QK187del NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 187 Lys-rich.|Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 ACCCCAaagcagaagaagaagaa 0.448 7 1346 --- --- --- --- UBN1 29855 broad.mit.edu 37 16 4910691 4910693 + In_Frame_Del DEL AGA AGA - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr16:4910691_4910693delAGA ENST00000396658.4 + 6 1401_1403 c.698_700delAGA c.(697-702)gag>g p.EK233del UBN1_ENST00000545171.1_In_Frame_Del_p.EK233del|UBN1_ENST00000590769.1_In_Frame_Del_p.EK233del|UBN1_ENST00000262376.6_In_Frame_Del_p.EK233del NM_016936.3 NP_058632.2 Q9NPG3 UBN1_HUMAN ubinuclein 1 233 Lys-rich. chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter PML body|tight junction DNA binding|sequence-specific DNA binding transcription factor activity p.K234E(1) NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 GCCAGTAAGGAGAAGAAGAAGAA 0.453 18 1724 --- --- --- --- TMC7 79905 broad.mit.edu 37 16 19058506 19058506 + Frame_Shift_Del DEL T T - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr16:19058506delT ENST00000421369.3 + 12 1903 c.1345delT c.(1345-1347)ttfs p.F450fs TMC7_ENST00000569532.1_Frame_Shift_Del_p.F560fs|TMC7_ENST00000304381.5_Frame_Shift_Del_p.F560fs NM_001160364.1 NP_001153836.1 Q7Z402 TMC7_HUMAN transmembrane channel-like 7 560 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 28 GATCGGAGCCTTTTTCTCACC 0.502 7 3008 --- --- --- --- PDILT 204474 broad.mit.edu 37 16 20370700 20370702 + In_Frame_Del DEL CCA CCA - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr16:20370700_20370702delCCA ENST00000302451.4 - 12 1942_1944 c.1694_1696delTGG c.(1693-1698)gct>g p.VA565del NM_174924.1 NP_777584.1 Q8N807 PDILT_HUMAN protein disulfide isomerase-like, testis expressed 565 cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1) 61 TTTGGCTTAGCCACCACCACCAC 0.478 16 1307 --- --- --- --- TNRC6A 27327 broad.mit.edu 37 16 24807240 24807240 + Frame_Shift_Del DEL A A - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr16:24807240delA ENST00000395799.3 + 9 3670 c.3541delA c.(3541-3543)aafs p.K1182fs TNRC6A_ENST00000315183.7_Frame_Shift_Del_p.K1182fs NM_014494.2 NP_055309.2 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 1182 Sufficient for interaction with EIF2C1 and EIF2C4. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 GBM - Glioblastoma multiforme(48;0.0394) TCTGAGTGGCAAAAAAAGGAG 0.398 8 1247 --- --- --- --- RRN3P2 0 broad.mit.edu 37 16 29110406 29110406 + RNA DEL T T - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr16:29110406delT ENST00000564580.1 + 0 1098 TTAAAAAATCTTTTTTTTTTT 0.299 9 126 --- --- --- --- TAOK2 9344 broad.mit.edu 37 16 29994531 29994533 + In_Frame_Del DEL GAG GAG - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr16:29994531_29994533delGAG ENST00000308893.4 + 12 2181_2183 c.1138_1140delGAG c.(1138-1140)del p.E392del TAOK2_ENST00000416441.2_In_Frame_Del_p.E219del|TAOK2_ENST00000543033.1_In_Frame_Del_p.E392del|TAOK2_ENST00000279394.3_In_Frame_Del_p.E392del NM_001252043.1|NM_016151.3 NP_001238972.1|NP_057235.2 Q9UL54 TAOK2_HUMAN TAO kinase 2 392 Glu-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 CAACgaggaagaggaggaggagg 0.611 14 509 --- --- --- --- CD2BP2 10421 broad.mit.edu 37 16 30365550 30365552 + In_Frame_Del DEL CAT CAT - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr16:30365550_30365552delCAT ENST00000305596.3 - 3 345_347 c.170_172delATG c.(169-174)ggg>g p.DG57del CD2BP2_ENST00000569466.1_In_Frame_Del_p.DG57del NM_006110.2 NP_006101.1 O95400 CD2B2_HUMAN CD2 (cytoplasmic tail) binding protein 2 57 assembly of spliceosomal tri-snRNP cytoplasm|nucleoplasm|U5 snRNP protein binding|ribonucleoprotein binding breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1) 15 CTGGACCCCCCATCATCATCATC 0.532 7 1934 --- --- --- --- COQ9 57017 broad.mit.edu 37 16 57486732 57486734 + In_Frame_Del DEL GAG GAG - rs149029279 TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr16:57486732_57486734delGAG ENST00000262507.6 + 3 331_333 c.262_264delGAG c.(262-264)del p.E91del COQ9_ENST00000567384.1_3'UTR|COQ9_ENST00000567933.1_In_Frame_Del_p.E91del|COQ9_ENST00000567072.1_In_Frame_Del_p.E91del NM_020312.3 NP_064708.1 O75208 COQ9_HUMAN coenzyme Q9 91 ubiquinone biosynthetic process mitochondrion breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1) 16 CCAGGGCGGCGAGGAGGAGGAGG 0.576 11 785 --- --- --- --- CCDC135 84229 broad.mit.edu 37 16 57731885 57731887 + In_Frame_Del DEL GGA GGA - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr16:57731885_57731887delGGA ENST00000360716.3 + 3 245_247 c.24_26delGGA c.(22-27)gtg>gt p.VE8del CCDC135_ENST00000394337.4_In_Frame_Del_p.VE8del|CCDC135_ENST00000336825.8_In_Frame_Del_p.VE8del|RP11-405F3.4_ENST00000563062.1_RNA Q8IY82 CC135_HUMAN coiled-coil domain containing 135 8 cytoplasm breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 30 Gggagaaggtggaggaggaggag 0.591 9 616 --- --- --- --- CTRL 1506 broad.mit.edu 37 16 67963919 67963919 + Frame_Shift_Del DEL T T - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr16:67963919delT ENST00000574481.1 - 7 1274 c.713delA c.(712-714)acfs p.N238fs NM_001907.2 NP_001898.1 P40313 CTRL_HUMAN chymotrypsin-like 238 Peptidase S1. digestion|proteolysis extracellular space serine-type endopeptidase activity kidney(1)|large_intestine(2)|urinary_tract(1) 4 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118) CACATTGCAGTTTTTGGTGCC 0.552 8 737 --- --- --- --- NFAT5 10725 broad.mit.edu 37 16 69726420 69726422 + In_Frame_Del DEL CAG CAG - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr16:69726420_69726422delCAG ENST00000349945.1 + 14 3962_3964 c.2410_2412delCAG c.(2410-2412)del p.Q812del NFAT5_ENST00000567239.1_In_Frame_Del_p.Q905del|NFAT5_ENST00000354436.2_In_Frame_Del_p.Q888del|NFAT5_ENST00000432919.1_In_Frame_Del_p.Q906del|NFAT5_ENST00000566899.1_In_Frame_Del_p.Q812del|NFAT5_ENST00000393742.2_In_Frame_Del_p.Q812del 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 7 427 --- --- --- --- CNTROB 116840 broad.mit.edu 37 17 7852809 7852809 + Frame_Shift_Del DEL G G - rs35508310 TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr17:7852809delG ENST00000380262.3 + 19 3684 c.2759delG c.(2758-2760)cgfs p.R920fs CNTROB_ENST00000380255.3_3'UTR|CNTROB_ENST00000563694.1_Frame_Shift_Del_p.R898fs|CNTROB_ENST00000565740.1_Frame_Shift_Del_p.R899fs NM_001037144.5 NP_001032221.1 Q8N137 CNTRB_HUMAN centrobin, centrosomal BRCA2 interacting protein 898 centriole replication|centrosome separation|cytokinesis centriole protein domain specific binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9) 25 Prostate(122;0.173) ATGAGGAGCCGGGGGGGAGTC 0.547 7 278 --- --- --- --- MYH10 4628 broad.mit.edu 37 17 8415820 8415822 + In_Frame_Del DEL TTC TTC - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr17:8415820_8415822delTTC ENST00000360416.3 - 24 3037_3039 c.2899_2901delGAA c.(2899-2901)del p.E967del MYH10_ENST00000269243.4_In_Frame_Del_p.E936del|MYH10_ENST00000396239.1_In_Frame_Del_p.E957del|MYH10_ENST00000379980.4_In_Frame_Del_p.E952del NM_001256012.1 NP_001242941.1 P35580 MYH10_HUMAN myosin, heavy chain 10, non-muscle 936 actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 TTTGGTTTCTTTCTTCTTCTTCT 0.350 7 341 --- --- --- --- WDR16 146845 broad.mit.edu 37 17 9503387 9503389 + In_Frame_Del DEL GAT GAT - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr17:9503387_9503389delGAT ENST00000352665.5 + 6 709_711 c.640_642delGAT c.(640-642)del p.D217del WDR16_ENST00000396219.3_In_Frame_Del_p.D149del|WDR16_ENST00000299764.5_In_Frame_Del_p.D227del NM_145054.4 NP_659491.4 Q8N1V2 WDR16_HUMAN WD repeat domain 16 217 cytoplasm|intracellular membrane-bounded organelle protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 31 TCTTCAGGTGGATGATGATGATA 0.502 8 700 --- --- --- --- ZNF624 57547 broad.mit.edu 37 17 16527227 16527227 + Frame_Shift_Del DEL T T - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr17:16527227delT ENST00000311331.7 - 6 1064 c.973delA c.(973-975)tcfs p.I325fs NM_020787.3 NP_065838.2 Q9P2J8 ZN624_HUMAN zinc finger protein 624 325 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1) 26 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) CCAGTGTGGATTTTTTTGTGC 0.353 7 614 --- --- --- --- DHRS7B 25979 broad.mit.edu 37 17 21094331 21094333 + In_Frame_Del DEL GAA GAA - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr17:21094331_21094333delGAA ENST00000395511.3 + 7 1163_1165 c.843_845delGAA c.(841-846)ggg>gg p.GK281del DHRS7B_ENST00000581463.1_Intron|DHRS7B_ENST00000579303.1_In_Frame_Del_p.GK266del NM_015510.4 NP_056325.2 Q6IAN0 DRS7B_HUMAN dehydrogenase/reductase (SDR family) member 7B 281 integral to membrane|peroxisomal membrane binding|oxidoreductase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2) 7 CTGCTGTGGGGAAGAAGAAGAAA 0.507 8 1056 --- --- --- --- AC005562.1 0 broad.mit.edu 37 17 28960996 28960997 + RNA INS - - TC TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr17:28960996_28960997insTC ENST00000417404.1 + 0 1269 SMURF2P1_ENST00000578265.1_RNA|LRRC37BP1_ENST00000412831.1_RNA tttttctttttttttttttttt 0.302 22 95 --- --- --- --- EVI2A 2123 broad.mit.edu 37 17 29645635 29645637 + In_Frame_Del DEL TGT TGT - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr17:29645635_29645637delTGT ENST00000247270.3 - 3 800_802 c.464_466delACA c.(463-468)atg>a p.NM155del NF1_ENST00000581113.2_Intron|CTD-2370N5.3_ENST00000578584.1_In_Frame_Del_p.QH71del|EVI2A_ENST00000462804.2_In_Frame_Del_p.NM132del|NF1_ENST00000356175.3_Intron|EVI2A_ENST00000461237.1_In_Frame_Del_p.NM132del|NF1_ENST00000358273.4_Intron NM_001003927.2 NP_001003927.1 P22794 EVI2A_HUMAN ecotropic viral integration site 2A 132 integral to membrane transmembrane receptor activity p.0?(8)|p.?(3) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 14 all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094) UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18) AGCATAGCCATGTTGTTGTTGTT 0.365 10 710 --- --- --- --- SLFN12 55106 broad.mit.edu 37 17 33749493 33749493 + Frame_Shift_Del DEL A A - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr17:33749493delA ENST00000394562.1 - 4 1078 c.555delT c.(553-555)ttfs p.F185fs SLFN12_ENST00000304905.5_Frame_Shift_Del_p.F185fs|SLFN12_ENST00000452764.3_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 9 578 --- --- --- --- GAS2L2 246176 broad.mit.edu 37 17 34071994 34071996 + In_Frame_Del DEL TCC TCC - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr17:34071994_34071996delTCC ENST00000254466.6 - 6 2547_2549 c.2520_2522delGGA c.(2518-2523)gaa>ga p.EE840del GAS2L2_ENST00000587565.1_In_Frame_Del_p.EE824del NM_139285.3 NP_644814.1 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 840 cell cycle arrest cytoplasm|cytoskeleton central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) ctcctttccttcctcctcctcct 0.616 9 404 --- --- --- --- CDK12 51755 broad.mit.edu 37 17 37686900 37686901 + Frame_Shift_Ins INS - - C TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr17:37686900_37686901insC ENST00000447079.4 + 14 3837_3838 c.3804_3805insC c.(3802-3807)gaccccfs p.DP1268fs CDK12_ENST00000430627.2_Frame_Shift_Ins_p.DP1259fs NM_015083.1|NM_016507.2 NP_055898.1|NP_057591.2 Q9NYV4 CDK12_HUMAN cyclin-dependent kinase 12 1268 Poly-Pro. mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3) 70 GGCCCCCTGAGCCCCCCGGACC 0.564 """Mis, N, F""" serous ovarian TCGA Ovarian(9;0.13) 7 2387 --- --- --- --- RP11-798G7.5 0 broad.mit.edu 37 17 43591984 43591985 + RNA INS - - G TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr17:43591984_43591985insG ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA GTGGGTCATGCGGAGCGAGTTT 0.411 25 473 --- --- --- --- RP11-798G7.5 0 broad.mit.edu 37 17 43596433 43596433 + RNA DEL T T - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr17:43596433delT ENST00000253803.2 + 0 267 TTTTTGCCGGTTTTGGCCTAC 0.478 8 4187 --- --- --- --- CDC27 996 broad.mit.edu 37 17 45219612 45219612 + Frame_Shift_Del DEL A A - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr17:45219612delA ENST00000066544.3 - 11 1454 c.1361delT c.(1360-1362)cafs p.L454fs CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 454 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 TGCTTTTTGTAGATTAAAGGC 0.308 28 265 --- --- --- --- RP11-178C3.2 0 broad.mit.edu 37 17 58050857 58050857 + RNA DEL G G - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr17:58050857delG ENST00000586209.1 + 0 158 TTTTTTTTTTGGCAGTTTTTA 0.423 8 99 --- --- --- --- FTSJ3 117246 broad.mit.edu 37 17 61899155 61899157 + In_Frame_Del DEL CTC CTC - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 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 9 1275 --- --- --- --- FHOD3 80206 broad.mit.edu 37 18 34261459 34261460 + Frame_Shift_Del DEL AG AG - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr18:34261459_34261460delAG ENST00000257209.4 + 12 1493_1494 c.1371_1372delAG c.(1369-1374)gcagfs p.AE457fs FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000445677.1_Frame_Shift_Del_p.AE419fs|FHOD3_ENST00000590592.1_Frame_Shift_Del_p.AE632fs|FHOD3_ENST00000359247.4_Frame_Shift_Del_p.AE457fs NM_025135.2 NP_079411.2 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 457 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 90 all_epithelial(2;0.0181)|Colorectal(2;0.0195) CACTGGCAGCAGAGAGAGAGAG 0.460 13 295 --- --- --- --- CXXC1 30827 broad.mit.edu 37 18 47812275 47812277 + In_Frame_Del DEL CTG CTG - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 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 9 239 --- --- --- --- MBD3 53615 broad.mit.edu 37 19 1578372 1578374 + In_Frame_Del DEL CTC CTC - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr19:1578372_1578374delCTC ENST00000590550.2 - 5 1046_1048 c.673_675delGAG c.(673-675)del p.E225del MBD3_ENST00000434436.3_In_Frame_Del_p.E281del|MBD3_ENST00000156825.1_In_Frame_Del_p.E281del|MBD3_ENST00000592012.1_In_Frame_Del_p.E249del O95983 MBD3_HUMAN methyl-CpG binding domain protein 3 281 transcription, DNA-dependent NuRD complex DNA binding|protein binding central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 8 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18) CCGGGTCGGGctcctcctcctcc 0.714 10 236 --- --- --- --- TNFSF9 8744 broad.mit.edu 37 19 6531149 6531151 + In_Frame_Del DEL GCT GCT - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 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 7 336 --- --- --- --- SNAPC2 6618 broad.mit.edu 37 19 7987519 7987519 + Frame_Shift_Del DEL C C - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr19:7987519delC ENST00000221573.6 + 5 926 c.875delC c.(874-876)acfs p.T292fs SNAPC2_ENST00000597584.1_Frame_Shift_Del_p.T55fs NM_003083.3 NP_003074.1 Q13487 SNPC2_HUMAN small nuclear RNA activating complex, polypeptide 2, 45kDa 292 snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleoplasm sequence-specific DNA binding transcription factor activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1) 6 CCAGAGGAGACCCCCCCAGCC 0.662 7 490 --- --- --- --- DNMT1 1786 broad.mit.edu 37 19 10262139 10262139 + Frame_Shift_Del DEL T T - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr19:10262139delT ENST00000340748.4 - 23 2387 c.2152delA c.(2152-2154)tgfs p.M718fs DNMT1_ENST00000540357.1_Frame_Shift_Del_p.M718fs|DNMT1_ENST00000359526.4_Frame_Shift_Del_p.M734fs P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 718 chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) CCCTGGTGCATTTTTTTGGGT 0.507 9 998 --- --- --- --- CTC-260E6.6 0 broad.mit.edu 37 19 20243404 20243405 + RNA DEL AC AC - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr19:20243404_20243405delAC ENST00000590606.1 - 0 188 CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA TCCCTGGAAAACACACACACAC 0.411 25 542 --- --- --- --- C19orf12 83636 broad.mit.edu 37 19 30193878 30193879 + Frame_Shift_Ins INS - - C TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr19:30193878_30193879insC ENST00000323670.9 - 3 305_306 c.166_167insG c.(166-168)tgtfs p.C56fs C19orf12_ENST00000592153.1_Frame_Shift_Ins_p.C56fs|C19orf12_ENST00000392276.1_5'UTR|C19orf12_ENST00000392278.2_Frame_Shift_Ins_p.C67fs|C19orf12_ENST00000392275.1_5'UTR NM_001256047.1|NM_031448.4 NP_001242976.1|NP_113636.2 Q9NSK7 CS012_HUMAN chromosome 19 open reading frame 12 56 integral to membrane Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239) UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183) CCCCCCGACAGCCCCCCCTAGA 0.525 8 715 --- --- --- --- C19orf55 148137 broad.mit.edu 37 19 36255947 36255949 + In_Frame_Del DEL CTC CTC - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr19:36255947_36255949delCTC ENST00000544099.1 + 7 702_704 c.639_641delCTC c.(637-642)atc>at p.IS213del C19orf55_ENST00000396908.4_In_Frame_Del_p.IS213del Q2NL68 CS055_HUMAN chromosome 19 open reading frame 55 213 Ser-rich. cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1) 15 all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) AAGCCTCCATCTCCTCCTCCTCC 0.631 8 1185 --- --- --- --- PRX 57716 broad.mit.edu 37 19 40900180 40900182 + In_Frame_Del DEL TCC TCC - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 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 7 167 --- --- --- --- SIGLEC16 400709 broad.mit.edu 37 19 50474857 50474861 + RNA DEL GACGC GACGC - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr19:50474857_50474861delGACGC ENST00000602139.1 + 0 998 sialic acid binding Ig-like lectin 16 (gene/pseudogene) endometrium(2)|kidney(2)|lung(6) 10 CAGTCTCCAGGACGCTTCCCTTTGC 0.566 18 334 --- --- --- --- CNOT3 4849 broad.mit.edu 37 19 54649671 54649671 + Frame_Shift_Del DEL T T - rs36665 byFrequency TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr19:54649671delT ENST00000406403.1 + 8 2332 c.729delT c.(727-729)ccfs p.P244fs CNOT3_ENST00000221232.5_Frame_Shift_Del_p.P244fs|CNOT3_ENST00000358389.3_Frame_Shift_Del_p.P63fs O75175 CNOT3_HUMAN CCR4-NOT transcription complex, subunit 3 244 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3) 28 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CCACCTCCCCTCCCAGCCACA 0.632 8 493 --- --- --- --- SYNDIG1 79953 broad.mit.edu 37 20 24524183 24524185 + In_Frame_Del DEL GGA GGA - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 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 8 844 --- --- --- --- KCNB1 3745 broad.mit.edu 37 20 47989771 47989772 + Frame_Shift_Ins INS - - G TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr20:47989771_47989772insG ENST00000371741.4 - 2 2491_2492 c.2325_2326insC c.(2323-2328)ccaaagfs p.PK775fs NM_004975.2 NP_004966.1 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 1 775 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GGGAGGCTTTTGGGGGGGCTGG 0.545 12 2866 --- --- --- --- ANKRD20A11P 0 broad.mit.edu 37 21 15343608 15343609 + RNA INS - - A TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr21:15343608_15343609insA ENST00000344693.5 - 0 736 NR_027270.1 TAAAACAGCAGAAAAAATTAAT 0.272 8 534 --- --- --- --- IFNGR2 3460 broad.mit.edu 37 21 34799292 34799292 + Frame_Shift_Del DEL T T - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr21:34799292delT ENST00000290219.6 + 4 1162 c.514delT c.(514-516)ttfs p.F173fs IFNGR2_ENST00000381995.1_Frame_Shift_Del_p.F192fs|IFNGR2_ENST00000405436.1_Frame_Shift_Del_p.F94fs NM_005534.3 NP_005525.2 P38484 INGR2_HUMAN interferon gamma receptor 2 (interferon gamma transducer 1) 173 Fibronectin type-III 2. regulation of interferon-gamma-mediated signaling pathway|response to virus endoplasmic reticulum|integral to plasma membrane interferon-gamma receptor activity NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1) 13 Interferon gamma-1b(DB00033) CTCCACGGCCTTTTTTTGTTA 0.458 9 2043 --- --- --- --- TRAPPC10 7109 broad.mit.edu 37 21 45472274 45472275 + Frame_Shift_Ins INS - - A rs149217788 byFrequency TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr21:45472274_45472275insA ENST00000291574.4 + 4 574_575 c.399_400insA c.(397-402)aaaaaafs p.KK133fs TRAPPC10_ENST00000380221.3_Frame_Shift_Ins_p.KK133fs NM_003274.4 NP_003265.3 P48553 TPC10_HUMAN trafficking protein particle complex 10 133 vesicle-mediated transport Golgi apparatus|integral to membrane binding|sodium ion transmembrane transporter activity p.K133N(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4) 41 ATGATGCCAAGAAAAAAAACAA 0.356 13 658 --- --- --- --- MED15 51586 broad.mit.edu 37 22 20918916 20918918 + In_Frame_Del DEL CAG CAG - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr22:20918916_20918918delCAG ENST00000263205.7 + 6 700_702 c.631_633delCAG c.(631-633)del p.Q218del MED15_ENST00000541476.1_In_Frame_Del_p.Q192del|MED15_ENST00000382974.2_In_Frame_Del_p.Q147del|MED15_ENST00000425759.2_In_Frame_Del_p.Q107del|MED15_ENST00000292733.7_In_Frame_Del_p.Q218del|MED15_ENST00000406969.1_In_Frame_Del_p.Q192del|MED15_ENST00000542773.1_In_Frame_Del_p.Q23del NM_001003891.1 NP_001003891.1 Q96RN5 MED15_HUMAN mediator complex subunit 15 218 Poly-Gln. Missing (in Ref. 4; CAG30423). regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 25 all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209) gcagcagctccagcagcagcagc 0.567 OREG0026319 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 139 --- --- --- --- SF3A1 10291 broad.mit.edu 37 22 30742328 30742330 + In_Frame_Del DEL CTG CTG - rs141985009 byFrequency TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr22:30742328_30742330delCTG ENST00000215793.7 - 3 518_520 c.364_366delCAG c.(364-366)del p.Q122del SF3A1_ENST00000439242.1_Intron NM_005877.4 NP_005868.1 Q15459 SF3A1_HUMAN splicing factor 3a, subunit 1, 120kDa 122 Poly-Gln. nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1) 29 GCTGGGTGGTCTGCTGCTGCTGC 0.606 10 633 --- --- --- --- RANGAP1 5905 broad.mit.edu 37 22 41650469 41650471 + In_Frame_Del DEL TCC TCC - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr22:41650469_41650471delTCC ENST00000455915.2 - 10 2570_2572 c.1101_1103delGGA c.(1099-1104)gaa>ga p.EE367del RANGAP1_ENST00000356244.3_In_Frame_Del_p.EE367del|RANGAP1_ENST00000405486.1_In_Frame_Del_p.EE367del|RANGAP1_ENST00000407260.4_In_Frame_Del_p.EE312del P46060 RAGP1_HUMAN Ran GTPase activating protein 1 367 Asp/Glu-rich (highly acidic). mitotic prometaphase|signal transduction condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole protein binding|Ran GTPase activator activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 ctcttctccttcctcctcctcct 0.562 20 712 --- --- --- --- TCF20 6942 broad.mit.edu 37 22 42610776 42610778 + In_Frame_Del DEL TGC TGC - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr22:42610776_42610778delTGC ENST00000359486.3 - 1 670_672 c.534_536delGCA c.(532-537)caa>ca p.QQ178del TCF20_ENST00000335626.4_In_Frame_Del_p.QQ178del NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 178 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 CTGCTGGACTTGCTGCTGCTGCT 0.571 11 435 --- --- --- --- ARFGAP3 26286 broad.mit.edu 37 22 43213780 43213780 + Frame_Shift_Del DEL T T - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chr22:43213780delT ENST00000263245.5 - 10 1115 c.896delA c.(895-897)atfs p.N299fs ARFGAP3_ENST00000437119.2_Frame_Shift_Del_p.N255fs|ARFGAP3_ENST00000429508.2_Frame_Shift_Del_p.N227fs NM_001142293.1|NM_014570.4 NP_001135765.1|NP_055385.3 Q9NP61 ARFG3_HUMAN ADP-ribosylation factor GTPase activating protein 3 299 intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport cytosol|Golgi membrane ARF GTPase activator activity|protein transporter activity|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1) 11 TGAGTCAACATTTTTTTTGCC 0.363 10 901 --- --- --- --- NAP1L2 4674 broad.mit.edu 37 X 72433664 72433666 + In_Frame_Del DEL TCC TCC - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 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 17 443 --- --- --- --- TSIX 0 broad.mit.edu 37 X 73046080 73046080 + RNA DEL T T - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chrX:73046080delT ENST00000604411.1 + 0 34041 XIST_ENST00000429829.1_lincRNA NR_003255.2 AGCCTGGCACTTTTTTTTCCC 0.423 8 691 --- --- --- --- BHLHB9 80823 broad.mit.edu 37 X 102004419 102004421 + In_Frame_Del DEL GAG GAG - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chrX:102004419_102004421delGAG ENST00000372735.1 + 4 1081_1083 c.496_498delGAG c.(496-498)del p.E171del BHLHB9_ENST00000361229.4_In_Frame_Del_p.E171del|BHLHB9_ENST00000447531.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000457056.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000448867.1_In_Frame_Del_p.E171del Q6PI77 BHLH9_HUMAN basic helix-loop-helix domain containing, class B, 9 171 Poly-Glu. cytoplasm|nucleus binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 GTCAGGGGCTGAGGAGGAGGAGG 0.488 31 1337 --- --- --- --- ZBTB33 10009 broad.mit.edu 37 X 119388276 119388278 + In_Frame_Del DEL GAT GAT - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chrX:119388276_119388278delGAT ENST00000326624.2 + 2 1234_1236 c.1006_1008delGAT c.(1006-1008)del p.D340del ZBTB33_ENST00000557385.1_In_Frame_Del_p.D340del NM_006777.3 NP_006768.1 Q86T24 KAISO_HUMAN zinc finger and BTB domain containing 33 340 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|nucleolus|plasma membrane DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 26 GGAAATAATAGATGATGATGATG 0.433 10 952 --- --- --- --- CUL4B 8450 broad.mit.edu 37 X 119694117 119694119 + In_Frame_Del DEL GAG GAG - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chrX:119694117_119694119delGAG ENST00000371322.5 - 1 436_438 c.375_377delCTC c.(373-378)tca>tc p.SS127del CUL4B_ENST00000404115.3_In_Frame_Del_p.SS145del|CUL4B_ENST00000336592.6_In_Frame_Del_p.SS132del NM_001079872.1 NP_001073341.1 Q13620 CUL4B_HUMAN cullin 4B 145 Ser-rich. cell cycle|DNA repair|ubiquitin-dependent protein catabolic process Cul4B-RING ubiquitin ligase complex|nucleus protein binding|ubiquitin protein ligase binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 TGGTGAAGATgaggaggaggagg 0.488 9 453 --- --- --- --- HS6ST2 90161 broad.mit.edu 37 X 131762582 131762582 + Frame_Shift_Del DEL A A - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chrX:131762582delA ENST00000370836.2 - 4 1902 c.1487delT c.(1486-1488)tgfs p.L496fs HS6ST2_ENST00000406696.3_Frame_Shift_Del_p.L222fs|HS6ST2_ENST00000521489.1_Frame_Shift_Del_p.L536fs|HS6ST2_ENST00000370833.2_Frame_Shift_Del_p.L390fs|HS6ST2_ENST00000370837.1_Frame_Shift_Del_p.L350fs NM_147175.3 NP_671704.3 Q96MM7 H6ST2_HUMAN heparan sulfate 6-O-sulfotransferase 2 496 integral to membrane sulfotransferase activity central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2) 9 Acute lymphoblastic leukemia(192;0.000127) ATACCTCTGCAAAAAAAGGTC 0.453 11 1500 --- --- --- --- SPANXN3 139067 broad.mit.edu 37 X 142605149 142605149 + Frame_Shift_Del DEL T T - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chrX:142605149delT ENST00000370503.2 - 1 154 c.71delA c.(70-72)atfs p.N24fs NM_001009609.2 NP_001009609.1 Q5MJ09 SPXN3_HUMAN SPANX family, member N3 24 endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1) 14 Acute lymphoblastic leukemia(192;6.56e-05) TACCTCATCATTTTTTTTGTT 0.453 12 1252 --- --- --- --- MAMLD1 10046 broad.mit.edu 37 X 149639325 149639327 + In_Frame_Del DEL CAG CAG - TCGA-M8-A5N4-01A-11D-A26I-08 TCGA-M8-A5N4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6d223e-26a4-4b06-b260-bb1988f1f808 483217e3-6f76-47b0-ae68-da24243056c0 g.chrX:149639325_149639327delCAG ENST00000370401.2 + 4 1790_1792 c.1480_1482delCAG c.(1480-1482)del p.Q502del MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000455522.2_5'UTR|MAMLD1_ENST00000432680.2_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 19 583 --- --- --- ---