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 KAT6A 7994 broad.mit.edu 37 8 41790659 41790659 + Silent SNP T T G TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr8:41790659T>G ENST00000396930.3 - 18 5622 c.5079A>C c.(5077-5079)ccA>ccC p.P1693P KAT6A_ENST00000265713.2_Silent_p.P1693P|KAT6A_ENST00000406337.1_Silent_p.P1693P NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 1693 Gln/Pro-rich. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding ggggagggggtgggggtggag 0.627000 20 87 0 0 0.870114 0 0 ZNF174 7727 broad.mit.edu 37 16 3452365 3452365 + Missense_Mutation SNP G G A TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr16:3452365G>A ENST00000268655.4 + 1 946 c.361G>A c.(361-363)Gtg>Atg p.V121M ZNF174_ENST00000575752.1_Missense_Mutation_p.V121M|LA16c-306E5.2_ENST00000575785.1_RNA|ZNF174_ENST00000571936.1_Missense_Mutation_p.V121M|ZNF174_ENST00000344823.5_Missense_Mutation_p.V121M|ZNF174_ENST00000572544.1_Missense_Mutation_p.V121M NM_003450.2 NP_003441.1 Q15697 ZN174_HUMAN zinc finger protein 174 121 SCAN box. negative regulation of transcription from RNA polymerase II promoter|viral reproduction actin cytoskeleton|cytoplasm|nucleus protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2) 12 TGTGACCCTCGTGGAAGATTT 0.498000 32 574 0 0 0.729181 0 0 NCOA6 23054 broad.mit.edu 37 20 33345756 33345756 + Silent SNP T T C TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr20:33345756T>C ENST00000374796.2 - 8 3365 c.795A>G c.(793-795)caA>caG p.Q265Q NCOA6_ENST00000359003.2_Silent_p.Q265Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 265 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q265Q(1) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gttgttgttgttgctgctgct 0.537000 6 317 0 0 0.248553 0 0 BTN2A3P 0 broad.mit.edu 37 6 26422353 26422353 + RNA SNP C C T rs141013110 TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr6:26422353C>T ENST00000466808.2 + 0 7 p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 11 668 0 0 0.500413 0 0 BAGE2 85319 broad.mit.edu 37 21 11098863 11098863 + RNA SNP A A G rs75318310 by1000genomes TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr21:11098863A>G ENST00000470054.1 - 0 62 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ccagcctccaactcccccttc 0.627000 13 198 0 0 0.479597 0 0 NGEF 25791 broad.mit.edu 37 2 233785159 233785159 + Silent SNP C C T TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr2:233785159C>T ENST00000264051.3 - 5 941 c.663G>A c.(661-663)gaG>gaA p.E221E NGEF_ENST00000409079.1_Silent_p.E129E|NGEF_ENST00000373552.4_Silent_p.E129E NM_019850.2 NP_062824.2 Q8N5V2 NGEF_HUMAN neuronal guanine nucleotide exchange factor 221 Poly-Glu.|Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity). apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|growth cone|plasma membrane Rho guanyl-nucleotide exchange factor activity p.E221E(3) central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4) 35 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604) cctcctcctcctcttcttctt 0.572000 7 502 0 0 0.278610 0 0 CCDC27 148870 broad.mit.edu 37 1 3673402 3673402 + Missense_Mutation SNP A A T TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr1:3673402A>T ENST00000294600.2 + 4 743 c.659A>T c.(658-660)cAg>cTg p.Q220L NM_152492.2 NP_689705.2 Q2M243 CCD27_HUMAN coiled-coil domain containing 27 220 breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2) 36 all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218) all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127) Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203) GTCGCATCTCAGAGCTGCCTG 0.572000 5 223 0 0 0.184627 0 0 RP11-337C18.8 0 broad.mit.edu 37 1 146650112 146650112 + RNA SNP G G A TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr1:146650112G>A ENST00000607149.1 + 0 350 TGCCTCTCAGGACTGAGGAAG 0.448000 15 564 0 0 0.500413 0 0 RRN3P2 0 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 24 270 0 0 0.706142 0 0 ZNF254 9534 broad.mit.edu 37 19 24310294 24310294 + Missense_Mutation SNP T T G TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr19:24310294T>G ENST00000357002.4 + 4 1607 c.1492T>G c.(1492-1494)Tct>Gct p.S498A ZNF254_ENST00000342944.6_Missense_Mutation_p.S413A NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2 NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3 O75437 ZN254_HUMAN zinc finger protein 254 498 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186) ATGTGGCAAATCTTTTAGCCA 0.408000 5 522 0 0 0.184627 0 0 NBPF10 100132406 broad.mit.edu 37 1 145293269 145293269 + Splice_Site SNP G G A rs61350760 by1000genomes TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr1:145293269G>A ENST00000369338.1 + 1 155 c.e1+1 RP11-458D21.5_ENST00000468030.1_Splice_Site|NBPF10_ENST00000369339.2_Intron A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) TTTCACAACAGTAAGTTAAGA 0.423000 23 435 0 0 0.639603 0 0 COL6A2 0 broad.mit.edu 37 21 47545202 47545202 + Missense_Mutation SNP T T A TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr21:47545202T>A ENST00000300527.4 + 24 1897 c.1793T>A c.(1792-1794)gTg>gAg p.V598E COL6A2_ENST00000397763.1_Missense_Mutation_p.V598E|COL6A2_ENST00000357838.4_Missense_Mutation_p.V598E|COL6A2_ENST00000310645.5_Missense_Mutation_p.V598E|COL6A2_ENST00000409416.1_Missense_Mutation_p.V598E NM_001849.3 NP_001840.3 P12110 CO6A2_HUMAN collagen, type VI, alpha 2 598 Nonhelical region. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 43 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) ATGACCTACGTGAGGGAGACC 0.687000 30 949 0 0 0.693898 0 0 DEK 7913 broad.mit.edu 37 6 18258216 18258216 + Missense_Mutation SNP G G C TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr6:18258216G>C ENST00000397239.3 - 4 772 c.325C>G c.(325-327)Cta>Gta p.L109V DEK_ENST00000244776.7_Missense_Mutation_p.L75V NM_003472.3 NP_003463.1 P35659 DEK_HUMAN DEK oncogene 109 chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication nucleus DNA binding|histone binding endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 7 Ovarian(93;0.00769)|Breast(50;0.0495) all_hematologic(90;0.053) OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332) AGTTTGTGTAGATTTCTAAGT 0.333000 T NUP214 AML 37 150 0 0 0.819951 0 0 PCDHGA6 0 broad.mit.edu 37 5 140754472 140754472 + Silent SNP C C T TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr5:140754472C>T ENST00000517434.1 + 1 822 c.822C>T c.(820-822)caC>caT p.H274H PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018919.2|NM_032086.1 NP_061742.1|NP_114475.1 breast(1)|large_intestine(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAGGAGTCCACGGGGAAGTAA 0.433000 45 186 0 0 0.840704 0 0 SPATA31C1 0 broad.mit.edu 37 9 90535290 90535290 + RNA SNP T T C rs55701842 by1000genomes TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr9:90535290T>C ENST00000602681.1 + 0 1194 CTATGGAAGATGCTGCTCCCA 0.592000 10 1489 0 0 0.335167 0 0 METTL17 64745 broad.mit.edu 37 14 21458225 21458225 + Missense_Mutation SNP C C T TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr14:21458225C>T ENST00000339374.6 + 1 297 c.64C>T c.(64-66)Ccc>Tcc p.P22S METTL17_ENST00000556670.2_Missense_Mutation_p.P22S|METTL17_ENST00000382985.4_Missense_Mutation_p.P22S|METTL17_ENST00000555177.1_3'UTR NM_001029991.1|NM_022734.2 NP_001025162.1|NP_073571.1 Q9H7H0 MET17_HUMAN methyltransferase like 17 22 translation mitochondrion|ribosome copper ion binding|methyltransferase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2) 20 TGGAGTGGCTCCCCAGGCCCG 0.637000 107 453 0 0 0.870114 0 0 SIDT2 51092 broad.mit.edu 37 11 117058103 117058103 + Missense_Mutation SNP G G C TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr11:117058103G>C ENST00000324225.4 + 11 1556 c.1025G>C c.(1024-1026)cGa>cCa p.R342P SIDT2_ENST00000431081.2_Missense_Mutation_p.R346P NM_001040455.1 NP_001035545.1 Q8NBJ9 SIDT2_HUMAN SID1 transmembrane family, member 2 342 integral to membrane|lysosomal membrane NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 36 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144) GGTCACCCTCGAGTCCTGGCT 0.522000 117 530 0 0 0.870114 0 0 ZNF681 148213 broad.mit.edu 37 19 23926945 23926945 + Silent SNP T T C TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr19:23926945T>C ENST00000402377.3 - 4 1548 c.1407A>G c.(1405-1407)aaA>aaG p.K469K ZNF681_ENST00000395385.3_Silent_p.K400K NM_138286.2 NP_612143.2 Q96N22 ZN681_HUMAN zinc finger protein 681 469 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3) 21 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) TATGAATTCTTTTATGTGTAG 0.358000 5 447 0 0 0.307466 0 0 ZNF845 91664 broad.mit.edu 37 19 53856702 53856702 + Missense_Mutation SNP G G A rs150688663 by1000genomes TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr19:53856702G>A ENST00000458035.1 + 4 2891 c.2774G>A c.(2773-2775)cGt>cAt p.R925H ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 925 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R925H(3) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 AAAACCTTCCGTCACAATTCA 0.363000 5 237 0 0 0.248553 0 0 CHD7 55636 broad.mit.edu 37 8 61654852 61654852 + Silent SNP G G A TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr8:61654852G>A ENST00000423902.2 + 2 1340 c.861G>A c.(859-861)ccG>ccA p.P287P CHD7_ENST00000525508.1_Silent_p.P287P|CHD7_ENST00000524602.1_Silent_p.P287P NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 287 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 p.P287P(2) 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) CTGTTAGGCCGCAAACCCTTA 0.512000 7 891 0 0 0.307466 0 0 TRIOBP 11078 broad.mit.edu 37 22 38119801 38119801 + Missense_Mutation SNP A A G rs71317064 TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr22:38119801A>G ENST00000406386.3 + 7 1493 c.1238A>G c.(1237-1239)aAa>aGa p.K413R RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 413 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding p.K413R(2) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) GACAATCCCAAAGCCTCCAGA 0.582000 9 656 0 0 0.361761 0 0 MIR329-1 0 broad.mit.edu 37 14 101493161 101493161 + RNA SNP A A T TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr14:101493161A>T ENST00000385028.1 + 0 40 NR_029967.1 TGTTTCTTTAATGAGGACGAA 0.468000 6 627 0 0 0.307466 0 0 WWP2 11060 broad.mit.edu 37 16 69832593 69832593 + Missense_Mutation SNP G G A TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr16:69832593G>A ENST00000359154.2 + 3 180 c.79G>A c.(79-81)Gca>Aca p.A27T WWP2_ENST00000448661.1_Missense_Mutation_p.A27T|WWP2_ENST00000569174.1_Missense_Mutation_p.A27T|WWP2_ENST00000356003.2_Missense_Mutation_p.A27T NM_001270454.1|NM_007014.4 NP_001257383.1|NP_008945.2 O00308 WWP2_HUMAN WW domain containing E3 ubiquitin protein ligase 2 27 C2. entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus|ubiquitin ligase complex RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 AGTGGTGTCCGCAAAGCCCAA 0.527000 OREG0023909 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 671 0 0 0.217242 0 0 MLLT3 4300 broad.mit.edu 37 9 20414373 20414373 + Silent SNP G G A TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr9:20414373G>A ENST00000380338.4 - 5 757 c.471C>T c.(469-471)agC>agT p.S157S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S154S|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, 3 157 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S157S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.527000 T MLL ALL 10 244 0 0 0.387290 0 0 BTG2 7832 broad.mit.edu 37 1 203276480 203276480 + Missense_Mutation SNP T T G TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr1:203276480T>G ENST00000290551.4 + 2 462 c.391T>G c.(391-393)Tcc>Gcc p.S131A NM_006763.2 NP_006754.1 P78543 BTG2_HUMAN BTG family, member 2 131 DNA repair|neuron projection development|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 9 BRCA - Breast invasive adenocarcinoma(75;0.203) ACTGGCCGCCTCCTGTGGGCT 0.652000 141 477 0 0 0.870114 0 0 PRG4 10216 broad.mit.edu 37 1 186276981 186276981 + Silent SNP A A G TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr1:186276981A>G ENST00000445192.2 + 7 2175 c.2130A>G c.(2128-2130)aaA>aaG p.K710K PRG4_ENST00000367486.3_Silent_p.K667K|PRG4_ENST00000367483.4_Silent_p.K669K|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Silent_p.K617K NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 710 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CTACCCCTAAAGGGACTGCTC 0.582000 8 1352 0 0 0.184627 0 0 BRWD3 254065 broad.mit.edu 37 X 79985487 79985487 + Missense_Mutation SNP G G A TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chrX:79985487G>A ENST00000373275.4 - 13 1376 c.1160C>T c.(1159-1161)aCg>aTg p.T387M NM_153252.4 NP_694984.4 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 387 breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3) 87 AATTCTTGCCGTTCCATCTCG 0.299000 70 306 0 0 0.870114 0 0 ZNF259 8882 broad.mit.edu 37 11 116652933 116652933 + Missense_Mutation SNP C C T TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr11:116652933C>T ENST00000227322.3 - 12 1179 c.1120G>A c.(1120-1122)Gac>Aac p.D374N NM_003904.3 NP_003895.1 O75312 ZPR1_HUMAN zinc finger protein 259 374 cell proliferation|signal transduction cytoplasm|nucleolus breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1) 9 all_hematologic(175;0.0487) all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153) TTGGAACTGTCGCCCAGTGTG 0.458000 8 338 0 0 0.278610 0 0 ZNF789 285989 broad.mit.edu 37 7 99084963 99084963 + Missense_Mutation SNP C C T TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr7:99084963C>T ENST00000331410.5 + 5 1400 c.1130C>T c.(1129-1131)aCg>aTg p.T377M ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000494186.1_Intron NM_213603.2 NP_998768.2 Q5FWF6 ZN789_HUMAN zinc finger protein 789 377 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1) 11 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) TGTGGGAAAACGTTTAGTTTT 0.403000 17 934 0 0 0.479597 0 0 ZNF208 7757 broad.mit.edu 37 19 22156734 22156734 + Missense_Mutation SNP G G A TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr19:22156734G>A ENST00000397126.4 - 4 1250 c.1102C>T c.(1102-1104)Ccc>Tcc p.P368S ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) CATTTGTAGGGTTTCTCTCCA 0.388000 7 374 0 0 0.248553 0 0 LCE1E 353135 broad.mit.edu 37 1 152759809 152759809 + Missense_Mutation SNP C C T TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr1:152759809C>T ENST00000368770.3 + 2 87 c.34C>T c.(34-36)Ccc>Tcc p.P12S LCE1E_ENST00000368771.1_Missense_Mutation_p.P12S NM_178353.1 NP_848130.1 Q5T753 LCE1E_HUMAN late cornified envelope 1E 12 Cys-rich. keratinization lung(5)|stomach(1) 6 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GCAGTGCCAGCCCCctcccaa 0.602000 25 1141 0 0 0.500413 0 0 FLNA 0 broad.mit.edu 37 X 153583275 153583275 + Missense_Mutation SNP T T C TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chrX:153583275T>C ENST00000422373.1 - 30 5359 c.5111A>G c.(5110-5112)tAc>tGc p.Y1704C FLNA_ENST00000360319.4_Missense_Mutation_p.Y1704C|FLNA_ENST00000369856.3_5'UTR|FLNA_ENST00000369850.3_Missense_Mutation_p.Y1712C|FLNA_ENST00000344736.4_Missense_Mutation_p.Y1704C NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha 1712 actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GGGGGCCGTGTAGAAGATGTC 0.617000 OREG0003595 type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 108 330 0 0 0.870114 0 0 MSL3 10943 broad.mit.edu 37 X 11781984 11781984 + Nonsense_Mutation SNP C C T TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chrX:11781984C>T ENST00000337339.2 + 8 862 c.835C>T c.(835-837)Caa>Taa p.Q279* MSL3_ENST00000312196.4_Nonsense_Mutation_p.Q279*|MSL3_ENST00000398527.2_Nonsense_Mutation_p.Q267*|MSL3_ENST00000380693.3_Nonsense_Mutation_p.Q113*|MSL3_ENST00000361672.2_Nonsense_Mutation_p.Q130* NM_078628.1 NP_523352.1 Q8N5Y2 MS3L1_HUMAN male-specific lethal 3 homolog (Drosophila) 279 histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter MSL complex DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1) 19 TCCATATGAACAAGCTCAGTA 0.378000 7 781 0 0 0.248553 0 0 ATP13A5 344905 broad.mit.edu 37 3 193081933 193081933 + Missense_Mutation SNP G G T TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr3:193081933G>T ENST00000342358.4 - 2 317 c.200C>A c.(199-201)cCc>cAc p.P67H NM_198505.2 NP_940907.2 Q4VNC0 AT135_HUMAN ATPase type 13A5 67 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) TTCTTGCAAGGGGCATGGGAT 0.537000 12 1189 0.000274275 0.000283793 0.307466 1 0 UBR2 23304 broad.mit.edu 37 6 42541728 42541728 + Missense_Mutation SNP G G C TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr6:42541728G>C ENST00000372899.1 + 2 593 c.335G>C c.(334-336)tGc>tCc p.C112S UBR2_ENST00000372903.2_Missense_Mutation_p.C112S|UBR2_ENST00000372901.1_Missense_Mutation_p.C112S NM_015255.2 NP_056070.1 Q8IWV8 UBR2_HUMAN ubiquitin protein ligase E3 component n-recognin 2 112 cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade nucleus|plasma membrane leucine binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5) 64 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196) ACATATTCTTGCAGGTAAAAT 0.328000 13 284 0 0 0.479597 0 0 SLC25A6 293 broad.mit.edu 37 X 1508186 1508186 + Silent SNP C C T TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chrX:1508186C>T ENST00000381401.5 - 2 1260 c.546G>A c.(544-546)caG>caA p.Q182Q SLC25A6_ENST00000475167.1_5'UTR NM_001636.3 NP_001627.2 P12236 ADT3_HUMAN solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6 182 active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle integral to membrane|mitochondrial inner membrane presequence translocase complex ATP:ADP antiporter activity|protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1) 11 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Clodronate(DB00720) TGATGATGCCCTGCACGGAGA 0.627000 143 660 0 0 0.870114 0 0 OR5T3 390154 broad.mit.edu 37 11 56019769 56019769 + Missense_Mutation SNP C C T TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr11:56019769C>T ENST00000303059.3 + 1 94 c.94C>T c.(94-96)Cca>Tca p.P32S NM_001004747.1 NP_001004747.1 Q8NGG3 OR5T3_HUMAN olfactory receptor, family 5, subfamily T, member 3 32 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 39 Esophageal squamous(21;0.00448) ATACAGGAATCCACTGAAGAA 0.358000 89 306 0 0 0.870114 0 0 FRG1B 0 broad.mit.edu 37 20 29625875 29625875 + Missense_Mutation SNP T T C rs143761036 by1000genomes TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr20:29625875T>C ENST00000278882.3 + 5 499 c.119T>C c.(118-120)aTc>aCc p.I40T FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T p.I40T(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGTACAGAATCGCCCTGAAA 0.358000 26 548 0 0 0.804634 0 0 C6orf195 154386 broad.mit.edu 37 6 2624100 2624100 + Translation_Start_Site SNP G G C TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr6:2624100G>C ENST00000296847.3 - 0 480 NM_152554.2 NP_689767.2 Q96MT4 CF195_HUMAN chromosome 6 open reading frame 195 cervix(1)|endometrium(1)|lung(2)|skin(1) 5 Ovarian(93;0.0412) all_hematologic(90;0.0895) TTCTTATGTTGATTCTTCTAT 0.418000 36 107 0 0 0.812448 0 0 C9orf64 84267 broad.mit.edu 37 9 86554490 86554490 + Missense_Mutation SNP G G A TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr9:86554490G>A ENST00000376344.3 - 4 1178 c.962C>T c.(961-963)gCc>gTc p.A321V C9orf64_ENST00000314700.1_Missense_Mutation_p.A180V NM_032307.3 NP_115683.3 Q5T6V5 CI064_HUMAN chromosome 9 open reading frame 64 321 central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1) 15 ATGGTCATGGGCATAGTCCCA 0.403000 5 309 0 0 0.184627 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664141 22664141 + RNA SNP G G A TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr22:22664141G>A ENST00000426066.1 + 0 664 NR_027293.1 AAATTTGAAGGTGCTGTGATT 0.448000 7 618 0 0 0.278610 0 0 UQCRH 7388 broad.mit.edu 37 1 46775912 46775912 + Missense_Mutation SNP G G A TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr1:46775912G>A ENST00000311672.5 + 3 303 c.167G>A c.(166-168)cGt>cAt p.R56H NM_001089591.1|NM_006004.2 NP_001083060.1|NP_005995.2 P07919 QCR6_HUMAN ubiquinol-cytochrome c reductase hinge protein 56 aerobic respiration|mitochondrial electron transport, ubiquinol to cytochrome c ubiquinol-cytochrome-c reductase activity large_intestine(1)|lung(1)|skin(1)|urinary_tract(1) 4 Acute lymphoblastic leukemia(166;0.155) TGTGATGAGCGTGTATCCTCT 0.512000 8 656 0 0 0.667858 0 0 CERCAM 51148 broad.mit.edu 37 9 131186459 131186459 + Missense_Mutation SNP C C T TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr9:131186459C>T ENST00000372842.1 + 5 3379 c.235C>T c.(235-237)Cgg>Tgg p.R79W CERCAM_ENST00000372838.4_Missense_Mutation_p.R157W Q5T4B2 GT253_HUMAN cerebral endothelial cell adhesion molecule 157 cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process endoplasmic reticulum lumen|plasma membrane endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2) 20 TCAGACTCTGCGGCTTCTCAT 0.607000 6 956 0 0 0.217242 0 0 MUC5B 727897 broad.mit.edu 37 11 1268340 1268340 + Silent SNP A A T TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr11:1268340A>T ENST00000447027.1 + 31 10297 c.10239A>T c.(10237-10239)ccA>ccT p.P3413P RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.P3410P Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 3410 17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) cctcaactccagggacaactc 0.637000 4 73 0 0 0.307466 0 0 KIF1B 23095 broad.mit.edu 37 1 10425187 10425187 + Missense_Mutation SNP G G C TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr1:10425187G>C ENST00000377086.1 + 42 4598 c.4396G>C c.(4396-4398)Gat>Cat p.D1466H KIF1B_ENST00000377081.1_Missense_Mutation_p.D1466H|KIF1B_ENST00000263934.6_Missense_Mutation_p.D1420H O60333 KIF1B_HUMAN kinesin family member 1B 1466 anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2) 71 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) AAAAATCTTAGATACGTCAGT 0.448000 53 313 0 0 0.870114 0 0 MEF2A 0 broad.mit.edu 37 15 100211761 100211761 + Missense_Mutation SNP C C T TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr15:100211761C>T ENST00000354410.5 + 5 924 c.295C>T c.(295-297)Cca>Tca p.P99S MEF2A_ENST00000557785.1_Intron|MEF2A_ENST00000453228.2_Intron|MEF2A_ENST00000558812.1_Intron|MEF2A_ENST00000338042.6_Intron|MEF2A_ENST00000449277.2_Intron|MEF2A_ENST00000557942.1_Intron NM_005587.2 NP_005578.2 Q02078 MEF2A_HUMAN myocyte enhancer factor 2A 99 apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|ventricular cardiac myofibril development nuclear chromatin|nucleoplasm activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding p.P99S(3) endometrium(2)|large_intestine(2)|lung(7)|ovary(1) 12 Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163) OV - Ovarian serous cystadenocarcinoma(32;0.00085) GTGCGACAGCCCAGACCCTGA 0.333000 6 155 0 0 0.217242 0 0 ABO 28 broad.mit.edu 37 9 136131710 136131710 + RNA SNP C C T TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr9:136131710C>T ENST00000453660.2 - 0 418 P16442 BGAT_HUMAN ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) protein glycosylation extracellular region|Golgi cisterna membrane|integral to Golgi membrane fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2) 11 OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05) GCTTCTCCGCCGTCTCCAGGA 0.701000 7 503 0 0 0.278610 0 0 BNC1 646 broad.mit.edu 37 15 83926674 83926674 + Silent SNP C C T TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr15:83926674C>T ENST00000345382.2 - 5 2590 c.2505G>A c.(2503-2505)acG>acA p.T835T RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Silent_p.T828T NM_001717.3 NP_001708.3 Q01954 BNC1_HUMAN basonuclin 1 835 epidermis development|positive regulation of cell proliferation cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 56 TGTGGACTTGCGTTATTGGGT 0.517000 76 363 0 0 0.870114 0 0 EFS 0 broad.mit.edu 37 14 23828664 23828664 + Silent SNP T T G TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr14:23828664T>G ENST00000216733.3 - 4 1630 c.1023A>C c.(1021-1023)ccA>ccC p.P341P EFS_ENST00000351354.3_Silent_p.P248P|EFS_ENST00000429593.2_Silent_p.P172P NM_005864.2 NP_005855.1 O43281 EFS_HUMAN embryonal Fyn-associated substrate 341 Pro-rich. cell adhesion|intracellular signal transduction cytoplasm SH3 domain binding endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2) 16 all_cancers(95;7.12e-06) GBM - Glioblastoma multiforme(265;0.00649) GCAGGCGGGGTGGGGGTGGGG 0.697000 30 232 0 0 0.870114 0 0 CTBP2 1488 broad.mit.edu 37 10 126682516 126682516 + Silent SNP G G A TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr10:126682516G>A ENST00000309035.6 - 6 2569 c.2439C>T c.(2437-2439)ggC>ggT p.G813G CTBP2_ENST00000411419.2_Silent_p.G273G|CTBP2_ENST00000337195.5_Silent_p.G273G|CTBP2_ENST00000334808.6_Silent_p.G341G|CTBP2_ENST00000494626.2_Silent_p.G273G|CTBP2_ENST00000531469.1_Silent_p.G273G NM_022802.2 NP_073713.2 P56545 CTBP2_HUMAN C-terminal binding protein 2 273 negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation cell junction|synapse|transcriptional repressor complex NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173) Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147) CCACCAGGCCGCCACGGGCTG 0.582000 7 1003 0 0 0.335167 0 0 RP11-296I10.6 0 broad.mit.edu 37 16 70253871 70253871 + RNA SNP A A G TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr16:70253871A>G ENST00000581050.1 - 0 1619 NR_033959.1 GTAAAGCTTCACCGAAGAGTG 0.388000 5 111 0 0 0.184627 0 0 FMN2 56776 broad.mit.edu 37 1 240371624 240371624 + Missense_Mutation SNP C C T TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr1:240371624C>T ENST00000319653.9 + 5 3742 c.3512C>T c.(3511-3513)gCg>gTg p.A1171V NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 1171 FH1.|Pro-rich. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CTACCCGGAGCGGGCATACCC 0.687000 5 144 0 0 0.248553 0 0 MUC7 4589 broad.mit.edu 37 4 71347047 71347047 + Missense_Mutation SNP T T C TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr4:71347047T>C ENST00000413702.1 + 4 874 c.586T>C c.(586-588)Tct>Cct p.S196P MUC7_ENST00000456088.1_Missense_Mutation_p.S196P|MUC7_ENST00000304887.5_Missense_Mutation_p.S196P NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 196 Thr-rich. extracellular region protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) ACCCACACCTTCTGCAACTAC 0.587000 10 1375 0 0 0.361761 0 0 UQCRH 7388 broad.mit.edu 37 1 46775916 46775916 + Silent SNP A A G TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr1:46775916A>G ENST00000311672.5 + 3 307 c.171A>G c.(169-171)gtA>gtG p.V57V NM_001089591.1|NM_006004.2 NP_001083060.1|NP_005995.2 P07919 QCR6_HUMAN ubiquinol-cytochrome c reductase hinge protein 57 V -> D (in Ref. 1; AAA36317/CAA68733). aerobic respiration|mitochondrial electron transport, ubiquinol to cytochrome c ubiquinol-cytochrome-c reductase activity large_intestine(1)|lung(1)|skin(1)|urinary_tract(1) 4 Acute lymphoblastic leukemia(166;0.155) ATGAGCGTGTATCCTCTCGAT 0.517000 8 677 0 0 0.654019 0 0 DUOXA2 405753 broad.mit.edu 37 15 45406819 45406819 + Missense_Mutation SNP G G A TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr15:45406819G>A ENST00000323030.5 + 1 301 c.16G>A c.(16-18)Ggc>Agc p.G6S NM_207581.3 NP_997464.2 Q1HG44 DOXA2_HUMAN dual oxidase maturation factor 2 6 protein transport endoplasmic reticulum membrane|integral to membrane all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659) CCTGTGGAACGGCGTACTGCC 0.632000 42 168 0 0 0.853193 0 0 F5 2153 broad.mit.edu 37 1 169510502 169510502 + Missense_Mutation SNP G G T rs140018525 byFrequency TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr1:169510502G>T ENST00000367796.3 - 13 4042 c.3841C>A c.(3841-3843)Ctt>Att p.L1281I F5_ENST00000367797.3_Missense_Mutation_p.L1276I P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 1276 35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) TCTGGAGAAAGGGGCATCTGA 0.502000 13 2004 0.000157383 0.00016336 0.278610 1 0 AVL9 23080 broad.mit.edu 37 7 32598232 32598232 + Missense_Mutation SNP T T C TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr7:32598232T>C ENST00000318709.4 + 9 892 c.671T>C c.(670-672)cTt>cCt p.L224P AVL9_ENST00000409301.1_Missense_Mutation_p.L224P|AVL9_ENST00000404479.1_Missense_Mutation_p.L224P NM_015060.1 NP_055875.1 Q8NBF6 AVL9_HUMAN AVL9 homolog (S. cerevisiase) 224 integral to membrane endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 GTGTTATCCCTTTTTCCAGGT 0.328000 6 519 0 0 0.278610 0 0 CR1 1378 broad.mit.edu 37 1 207787753 207787753 + Nonsense_Mutation SNP C C T rs55749440 TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr1:207787753C>T ENST00000367049.4 + 40 6580 c.6580C>T c.(6580-6582)Cga>Tga p.R2194* CR1_ENST00000367053.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000400960.2_Nonsense_Mutation_p.R1744*|CR1_ENST00000367051.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000367052.1_Nonsense_Mutation_p.R1744* NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 1744 complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity p.R1749*(9)|p.R2194*(9)|p.R1744*(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 CTTTAGGTTCCGATTAAAAGG 0.423000 9 367 0 0 0.387290 0 0 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C G rs121913530 TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr12:25398285C>G ENST00000311936.3 - 2 225 c.34G>C c.(34-36)Ggt>Cgt p.G12R KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348000 G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 36 82 0 0 0.788014 0 0 KIF1B 23095 broad.mit.edu 37 1 10425500 10425500 + Missense_Mutation SNP G G A TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr1:10425500G>A ENST00000377086.1 + 43 4748 c.4546G>A c.(4546-4548)Gag>Aag p.E1516K KIF1B_ENST00000377081.1_Missense_Mutation_p.E1516K|KIF1B_ENST00000263934.6_Missense_Mutation_p.E1470K O60333 KIF1B_HUMAN kinesin family member 1B 1516 anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2) 71 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) GCTGCTGCGTGAGAGACTTGG 0.507000 63 268 0 0 0.870114 0 0 PRKDC 5591 broad.mit.edu 37 8 48746867 48746867 + Missense_Mutation SNP G G A TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr8:48746867G>A ENST00000314191.2 - 60 8095 c.8039C>T c.(8038-8040)gCc>gTc p.A2680V PRKDC_ENST00000338368.3_Missense_Mutation_p.A2680V|PRKDC_ENST00000523565.1_5'UTR NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 2681 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) CCTCTTGTGGGCAAACAGCAA 0.542000 Non-homologous end-joining 7 1239 0 0 0.150653 0 0 FANCA 2175 broad.mit.edu 37 16 89838200 89838200 + Silent SNP C C T TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr16:89838200C>T ENST00000389301.3 - 23 2067 c.2037G>A c.(2035-2037)gtG>gtA p.V679V FANCA_ENST00000568369.1_Silent_p.V679V|FANCA_ENST00000567284.2_5'UTR NM_000135.2 NP_000126.2 O15360 FANCA_HUMAN Fanconi anemia, complementation group A 679 DNA repair|protein complex assembly cytoplasm|nucleoplasm protein binding breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3) 47 Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.028) TTTCAGAAATCACTGCCACCT 0.527000 """D, Mis, N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 149 201 0 0 0.870114 0 0 NPIPA5 100288332 broad.mit.edu 37 16 15457701 15457701 + Missense_Mutation SNP G G A TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr16:15457701G>A ENST00000360151.4 - 8 867 c.868C>T c.(868-870)Ctc>Ttc p.L290F NM_001277325.1 NP_001264254.1 nuclear pore complex interacting protein family, member A5 p.L290F(2) AGGGGAGTGAGCAGACACTCG 0.562000 8 1106 0 0 0.184627 0 0 ZNF733P 0 broad.mit.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr7:62752443G>C ENST00000331425.6 - 0 992 NR_003952.1 CTTATGTCTAGTAAGGTTTGA 0.438000 10 173 0 0 0.335167 0 0 SPHK2 56848 broad.mit.edu 37 19 49129495 49129495 + Silent SNP C C T TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr19:49129495C>T ENST00000443164.1 + 1 1278 c.573C>T c.(571-573)cgC>cgT p.R191R SPHK2_ENST00000340932.3_Silent_p.R93R|SPHK2_ENST00000601712.1_Silent_p.R93R|SPHK2_ENST00000599033.1_3'UTR|SPHK2_ENST00000245222.4_Silent_p.R129R|SPHK2_ENST00000599029.1_Silent_p.R93R|SPHK2_ENST00000600537.1_Silent_p.R70R|SPHK2_ENST00000598088.1_Silent_p.R129R|SPHK2_ENST00000599748.1_Silent_p.R93R Q9NRA0 SPHK2_HUMAN sphingosine kinase 2 129 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process cytosol|lysosomal membrane|membrane fraction ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 19 all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158) gggcccggcgcAGAGCCACTC 0.701000 36 98 0 0 0.796494 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522786 95522786 + RNA SNP T T C TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr2:95522786T>C ENST00000432432.2 - 0 241 NR_040113.1 p.K44K(1) CGGCGTCGCCTTTGACAGCTG 0.687000 12 453 0 0 0.435327 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162513 90162513 + RNA SNP T T C TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr16:90162513T>C ENST00000567960.1 + 0 1249 TUBB8P7_ENST00000564451.1_RNA p.N415N(2) GCAACATGAATGACCTGGTGT 0.537000 11 836 0 0 0.435327 0 0 GLUD1P2 0 broad.mit.edu 37 10 48968566 48968566 + RNA SNP A A G TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr10:48968566A>G ENST00000594520.1 + 0 723 ACAGGATAACAAACTGGAAAA 0.318000 18 196 0 0 0.557998 0 0 MLLT3 4300 broad.mit.edu 37 9 20414280 20414280 + Silent SNP G G A TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr9:20414280G>A ENST00000380338.4 - 5 850 c.564C>T c.(562-564)agC>agT p.S188S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S185S|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, 3 188 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S188S(1) 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) TGGTActactgctgctgctgc 0.502000 T MLL ALL 7 609 0 0 0.278610 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664186 22664186 + RNA SNP A A G TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr22:22664186A>G ENST00000426066.1 + 0 709 NR_027293.1 CAGATCAAGAAAGCACTCTGA 0.498000 8 669 0 0 0.520397 0 0 ZNF845 91664 broad.mit.edu 37 19 53856761 53856761 + Missense_Mutation SNP T T C TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr19:53856761T>C ENST00000458035.1 + 4 2950 c.2833T>C c.(2833-2835)Tgt>Cgt p.C945R ZNF845_ENST00000595091.1_Missense_Mutation_p.C945R NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 945 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.C945R(1) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 ACCTTACAAGTGTAATGAATG 0.348000 6 220 0 0 0.307466 0 0 FAM183B 340286 broad.mit.edu 37 7 38725545 38725545 + Missense_Mutation SNP G G A TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr7:38725545G>A ENST00000409072.3 - 2 995 c.61C>T c.(61-63)Cgg>Tgg p.R21W family with sequence similarity 183, member B p.R21W(2) endometrium(1)|lung(7) 8 TACAGCTCCCGCAAGATCTGG 0.577000 115 338 0 0 0.870114 0 0 TVP23C 201158 broad.mit.edu 37 17 15441469 15441469 + Splice_Site SNP C C T rs139351610 by1000genomes TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr17:15441469C>T ENST00000584811.1 - 7 1815 c.e7-2 TVP23C_ENST00000225576.3_Intron|TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000438826.3_Splice_Site trans-golgi network vesicle protein 23 homolog C (S. cerevisiae) TCCAGTGTTCCGCAAAAGACA 0.393000 16 423 0 0 0.608945 0 0 FAM86DP 0 broad.mit.edu 37 3 75475709 75475709 + RNA SNP T T C TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr3:75475709T>C ENST00000459803.1 - 0 820 NR_024241.1 p.I261V(1) CTCCGCAGGATCCCGACCAGC 0.562000 7 425 0 0 0.278610 0 0 TCP11L1 55346 broad.mit.edu 37 11 33094069 33094069 + Silent SNP G G A TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr11:33094069G>A ENST00000334274.4 + 10 1777 c.1377G>A c.(1375-1377)caG>caA p.Q459Q TCP11L1_ENST00000531632.2_Silent_p.Q459Q|TCP11L1_ENST00000324357.9_Silent_p.Q238Q|TCP11L1_ENST00000432887.1_Silent_p.Q459Q NM_018393.3 NP_060863.3 Q9NUJ3 T11L1_HUMAN t-complex 11, testis-specific-like 1 459 kidney(1)|liver(2)|lung(2)|skin(1) 6 CGGGTCATCAGAAGCCATTGC 0.463000 192 874 0 0 0.870114 0 0 PRAMEF10 343071 broad.mit.edu 37 1 12954807 12954807 + Missense_Mutation SNP G G A TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr1:12954807G>A ENST00000235347.4 - 3 555 c.476C>T c.(475-477)aCa>aTa p.T159I NM_001039361.3 NP_001034450.2 O60809 PRA10_HUMAN PRAME family member 10 159 NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 12 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|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) TTCATCCAGTGTACTTTCCTT 0.507000 9 491 0 0 0.639603 0 0 SLC16A5 9121 broad.mit.edu 37 17 73089835 73089835 + Missense_Mutation SNP G G A TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr17:73089835G>A ENST00000450736.2 + 2 519 c.104G>A c.(103-105)gGc>gAc p.G35D SLC16A5_ENST00000585293.1_3'UTR|SLC16A5_ENST00000329783.4_Missense_Mutation_p.G35D|SLC16A5_ENST00000580123.1_Missense_Mutation_p.G35D|SLC16A5_ENST00000538213.2_Missense_Mutation_p.G75D O15375 MOT6_HUMAN solute carrier family 16 (monocarboxylate transporter), member 5 35 organic anion transport integral to plasma membrane|membrane fraction secondary active monocarboxylate transmembrane transporter activity|symporter activity central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 22 all_lung(278;0.226) LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235) Pyruvic acid(DB00119) ACGTGTATCGGCATCTTCTTC 0.632000 6 561 0 0 0.248553 0 0 FAM155A 728215 broad.mit.edu 37 13 108518661 108518661 + Missense_Mutation SNP T T C TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr13:108518661T>C ENST00000375915.2 - 1 422 c.284A>G c.(283-285)cAg>cGg p.Q95R NM_001080396.2 NP_001073865.1 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 95 Poly-Gln. integral to membrane binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 ctgccgccgctgctgctgctg 0.731000 5 189 0 0 0.184627 0 0 ENTHD1 150350 broad.mit.edu 37 22 40257992 40257992 + Missense_Mutation SNP A A C TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr22:40257992A>C ENST00000325157.6 - 3 620 c.370T>G c.(370-372)Tct>Gct p.S124A NM_152512.3 NP_689725.2 Q8IYW4 ENTD1_HUMAN ENTH domain containing 1 124 ENTH. breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3) 32 Melanoma(58;0.0749) ACTTGCTTAGATTTTTCCCGG 0.353000 7 154 0 0 0.307466 0 0 ZNF737 100129842 broad.mit.edu 37 19 20727618 20727618 + Missense_Mutation SNP G G C TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr19:20727618G>C ENST00000427401.4 - 4 1485 c.1391C>G c.(1390-1392)tCg>tGg p.S464W NM_001159293.1 NP_001152765.1 C9JHM3 C9JHM3_HUMAN zinc finger protein 737 464 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1) 13 GTGTGAGGACGAGTTGAAGGC 0.423000 7 404 0 0 0.248553 0 0 TTLL5 23093 broad.mit.edu 37 14 76330128 76330128 + Nonsense_Mutation SNP C C T TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr14:76330128C>T ENST00000298832.9 + 29 3650 c.3445C>T c.(3445-3447)Caa>Taa p.Q1149* TTLL5_ENST00000554510.1_Nonsense_Mutation_p.Q658*|TTLL5_ENST00000556893.1_Nonsense_Mutation_p.Q700*|TTLL5_ENST00000557636.1_Nonsense_Mutation_p.Q1164* NM_015072.4 NP_055887.3 Q6EMB2 TTLL5_HUMAN tubulin tyrosine ligase-like family, member 5 1149 protein modification process|transcription, DNA-dependent centrosome|cilium|microtubule basal body|nucleus tubulin-tyrosine ligase activity NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2) 50 BRCA - Breast invasive adenocarcinoma(234;0.029) CTATCAGCTTCAATTTGCCCT 0.522000 161 621 0 0 0.870114 0 0 KRTAP1-5 83895 broad.mit.edu 37 17 39183145 39183145 + Missense_Mutation SNP A A G TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr17:39183145A>G ENST00000361883.5 - 1 309 c.263T>C c.(262-264)aTc>aCc p.I88T NM_031957.1 NP_114163.1 Q9BYS1 KRA15_HUMAN keratin associated protein 1-5 88 15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP]. keratin filament p.I88T(11) central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 17 Breast(137;0.00043) STAD - Stomach adenocarcinoma(17;0.000371) GCAGGAGCTGATCTGGCAGCA 0.632000 17 278 0 0 0.557998 0 0 ANGPTL7 10218 broad.mit.edu 37 1 11252354 11252354 + Missense_Mutation SNP A A G TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr1:11252354A>G ENST00000376819.3 + 2 643 c.404A>G c.(403-405)tAc>tGc p.Y135C MTOR_ENST00000361445.4_Intron NM_021146.2 NP_066969.1 O43827 ANGL7_HUMAN angiopoietin-like 7 135 Fibrinogen C-terminal. response to oxidative stress|signal transduction extracellular region receptor binding endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1) 10 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487) TCTTCCCTCTACCAGAAGAAC 0.502000 123 458 0 0 0.870114 0 0 ZNF91 7644 broad.mit.edu 37 19 23544783 23544783 + Missense_Mutation SNP C C T rs410211 TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr19:23544783C>T ENST00000300619.7 - 4 1203 c.998G>A c.(997-999)cGt>cAt p.R333H ZNF91_ENST00000397082.2_Missense_Mutation_p.R301H|ZNF91_ENST00000599743.1_Intron NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 333 R -> H (in Ref. 1; AAA59469). nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R333H(1) all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) GGTTGAAGAACGGCTAAAAGC 0.393000 6 672 0 0 0.217242 0 0 FHOD3 80206 broad.mit.edu 37 18 34289290 34289290 + Silent SNP G G A TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr18:34289290G>A ENST00000257209.4 + 15 2066 c.1944G>A c.(1942-1944)tcG>tcA p.S648S FHOD3_ENST00000587493.1_3'UTR|FHOD3_ENST00000590592.1_Silent_p.S823S|FHOD3_ENST00000445677.1_Silent_p.S610S|FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000359247.4_Silent_p.S631S NM_025135.2 NP_079411.2 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 631 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) CCAGCGTCTCGTCCTCCAGCA 0.567000 9 251 0 0 0.307466 0 0 MXRA7 439921 broad.mit.edu 37 17 74681156 74681156 + Missense_Mutation SNP C C G TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr17:74681156C>G ENST00000355797.3 - 3 506 c.498G>C c.(496-498)caG>caC p.Q166H MXRA7_ENST00000592148.1_Missense_Mutation_p.Q209H|MXRA7_ENST00000585519.1_Missense_Mutation_p.Q11H|MXRA7_ENST00000375036.2_Missense_Mutation_p.Q166H|MXRA7_ENST00000588114.1_Missense_Mutation_p.Q11H|MXRA7_ENST00000589082.1_Missense_Mutation_p.Q11H|MXRA7_ENST00000449428.2_Missense_Mutation_p.Q166H NM_001008528.1 NP_001008528.1 P84157 MXRA7_HUMAN matrix-remodelling associated 7 166 integral to membrane kidney(1)|large_intestine(2)|lung(2)|skin(1) 6 CAGCCTACCTCTGCTCCTCCT 0.622000 221 719 0 0 0.870114 0 0 ZAN 7455 broad.mit.edu 37 7 100350361 100350361 + RNA SNP T T C TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr7:100350361T>C ENST00000542585.1 + 0 2781 ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) ACGGAAAAACTCACCATCCCC 0.502000 21 1207 0 0 0.608945 0 0 FAM104B 90736 broad.mit.edu 37 X 55172537 55172537 + Nonsense_Mutation SNP G G A rs1047054 by1000genomes TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chrX:55172537G>A ENST00000425133.2 - 3 369 c.331C>T c.(331-333)Cga>Tga p.R111* FAM104B_ENST00000477847.2_Nonsense_Mutation_p.R107*|FAM104B_ENST00000332132.4_Intron|FAM104B_ENST00000472571.2_3'UTR|FAM104B_ENST00000358460.4_Intron|FAM104B_ENST00000489298.1_Nonsense_Mutation_p.R109* NM_001166700.1|NM_001166701.1|NM_001166704.1 NP_001160172.1|NP_001160173.1|NP_001160176.1 Q5XKR9 F104B_HUMAN family with sequence similarity 104, member B 0 p.R111*(5) endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 8 GCTTGCCCTCGCTGCTGCAGG 0.438000 6 306 0 0 0.278610 0 0 SPTAN1 6709 broad.mit.edu 37 9 131386635 131386635 + Nonsense_Mutation SNP C C G TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr9:131386635C>G ENST00000372739.3 + 46 5971 c.5861C>G c.(5860-5862)tCa>tGa p.S1954* SPTAN1_ENST00000372731.4_Nonsense_Mutation_p.S1949*|SPTAN1_ENST00000358161.5_Nonsense_Mutation_p.S1954* NM_001130438.2 NP_001123910.1 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 1949 actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 87 AACATCTCTTCAAAGATGAAG 0.527000 55 202 0 0 0.870114 0 0 ALDH3A2 224 broad.mit.edu 37 17 19575061 19575061 + Missense_Mutation SNP G G T TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr17:19575061G>T ENST00000176643.6 + 9 1681 c.1235G>T c.(1234-1236)gGa>gTa p.G412V ALDH3A2_ENST00000395575.2_Missense_Mutation_p.G412V|ALDH3A2_ENST00000571163.1_Intron|ALDH3A2_ENST00000339618.4_Missense_Mutation_p.G412V|ALDH3A2_ENST00000581518.1_Missense_Mutation_p.G412V|ALDH3A2_ENST00000579855.1_Missense_Mutation_p.G412V P51648 AL3A2_HUMAN aldehyde dehydrogenase 3 family, member A2 412 G -> R (in SLS). cellular aldehyde metabolic process|central nervous system development|epidermis development|lipid metabolic process|peripheral nervous system development endoplasmic reticulum membrane|integral to membrane 3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1) 13 all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245) NADH(DB00157) GCTTATCACGGAAAACATAGT 0.413000 96 492 7.43734e-37 8.18606e-37 0.870114 1 0 PCDHB13 0 broad.mit.edu 37 5 140595249 140595249 + Silent SNP T T C rs144959109 byFrequency TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr5:140595249T>C ENST00000341948.4 + 1 1741 c.1554T>C c.(1552-1554)tcT>tcC p.S518S NM_018933.2 NP_061756.1 Q9Y5F0 PCDBD_HUMAN 518 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding p.S518S(1) NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 66 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCCTCAGGTCTCTGGACTACG 0.692000 8 1189 0 0 0.608945 0 0 ABCA2 20 broad.mit.edu 37 9 139905491 139905491 + Missense_Mutation SNP G G A TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr9:139905491G>A ENST00000265662.5 - 39 6137 c.5990C>T c.(5989-5991)gCg>gTg p.A1997V ABCA2_ENST00000371605.3_Missense_Mutation_p.A1996V|ABCA2_ENST00000341511.6_Missense_Mutation_p.A1997V Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A (ABC1), member 2 1996 cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances p.A1997V(1) central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 41 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) GCCCTCAACCGCCATGGCCAC 0.672000 4 164 0 0 0.184627 0 0 PRG4 10216 broad.mit.edu 37 1 186276216 186276216 + Silent SNP T T C TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr1:186276216T>C ENST00000445192.2 + 7 1410 c.1365T>C c.(1363-1365)acT>acC p.T455T PRG4_ENST00000367486.3_Silent_p.T412T|PRG4_ENST00000367483.4_Silent_p.T414T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Silent_p.T362T NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 455 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CACCCACCACTCCCAAGGAGC 0.652000 30 1035 0 0 0.870114 0 0 TIE1 7075 broad.mit.edu 37 1 43783268 43783268 + Missense_Mutation SNP C C T TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr1:43783268C>T ENST00000372476.3 + 16 2733 c.2654C>T c.(2653-2655)gCg>gTg p.A885V TIE1_ENST00000433781.2_Missense_Mutation_p.A530V|TIE1_ENST00000473014.1_3'UTR NM_001253357.1|NM_005424.4 NP_001240286.1|NP_005415.1 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and EGF-like domains 1 885 Protein kinase. mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 70 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CGTGACTTTGCGGGAGAACTG 0.502000 8 1522 0 0 0.248553 0 0 TECR 9524 broad.mit.edu 37 19 14674895 14674895 + Silent SNP G G A TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr19:14674895G>A ENST00000436007.2 + 7 538 c.414G>A c.(412-414)cgG>cgA p.R138R TECR_ENST00000596073.1_5'UTR|TECR_ENST00000215567.5_Silent_p.R123R|TECR_ENST00000600083.1_5'UTR Q9NZ01 TECR_HUMAN trans-2,3-enoyl-CoA reductase 123 fatty acid elongation|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process integral to endoplasmic reticulum membrane trans-2-enoyl-CoA reductase (NADPH) activity|very long-chain-acyl-CoA dehydrogenase activity endometrium(1)|large_intestine(1)|ovary(1) 3 CGTCCAGTCGGCATACAGTGG 0.587000 7 1307 0 0 0.278610 0 0 YIPF7 285525 broad.mit.edu 37 4 44638040 44638040 + Missense_Mutation SNP G G A TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr4:44638040G>A ENST00000332990.5 - 3 267 c.251C>T c.(250-252)tCg>tTg p.S84L NM_182592.2 NP_872398.2 Q8N8F6 YIPF7_HUMAN Yip1 domain family, member 7 84 endoplasmic reticulum membrane|integral to membrane breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1) 12 TGCGTAACCCGATGACATGAG 0.408000 7 313 0 0 0.248553 0 0 NT5C3B 115024 broad.mit.edu 37 17 39983731 39983731 + Missense_Mutation SNP C C T TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr17:39983731C>T ENST00000269534.8 - 8 792 c.691G>A c.(691-693)Gat>Aat p.D231N NT5C3B_ENST00000521789.1_Intron|NT5C3B_ENST00000435506.2_Missense_Mutation_p.D239N NM_052935.4 NP_443167.4 5'-nucleotidase, cytosolic IIIB GGAACCCCATCGGCCATGGTG 0.507000 176 939 0 0 0.870114 0 0 MDGA2 161357 broad.mit.edu 37 14 47504469 47504469 + Missense_Mutation SNP A A T TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr14:47504469A>T ENST00000426342.1 - 8 1416 c.670T>A c.(670-672)Ttg>Atg p.L224M MDGA2_ENST00000357362.3_Missense_Mutation_p.L224M|MDGA2_ENST00000399232.2_Missense_Mutation_p.L522M|MDGA2_ENST00000439988.2_Missense_Mutation_p.L453M NM_182830.3 NP_878250.2 Q7Z553 MDGA2_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 2 453 Ig-like 2. spinal cord motor neuron differentiation anchored to membrane|plasma membrane breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5) 76 CTGGTGACCAATGGTGATTTT 0.378000 10 478 0 0 0.361761 0 0 ZNF737 100129842 broad.mit.edu 37 19 20727666 20727666 + Missense_Mutation SNP G G C TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr19:20727666G>C ENST00000427401.4 - 4 1437 c.1343C>G c.(1342-1344)aCt>aGt p.T448S NM_001159293.1 NP_001152765.1 C9JHM3 C9JHM3_HUMAN zinc finger protein 737 448 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1) 13 TTTCTCTCCAGTATGAATTCT 0.418000 5 353 0 0 0.184627 0 0 UBBP4 0 broad.mit.edu 37 17 21730847 21730847 + Missense_Mutation SNP G G T TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr17:21730847G>T ENST00000584755.1 + 2 546 c.149G>T c.(148-150)cGg>cTg p.R50L UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R50L endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GGCAAGCAGCGGGAAGATGGC 0.522000 6 300 0.0293803 0.0298351 0.248553 1 0 NCOA6 23054 broad.mit.edu 37 20 33345723 33345723 + Silent SNP C C T TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr20:33345723C>T ENST00000374796.2 - 8 3398 c.828G>A c.(826-828)caG>caA p.Q276Q NCOA6_ENST00000359003.2_Silent_p.Q276Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 276 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgttgttgctgctgctgct 0.537000 5 288 0 0 0.184627 0 0 KCNA5 3741 broad.mit.edu 37 12 5155075 5155075 + Missense_Mutation SNP G G A TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr12:5155075G>A ENST00000252321.3 + 1 1991 c.1762G>A c.(1762-1764)Gtc>Atc p.V588I NM_002234.3 NP_002225.2 P22460 KCNA5_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 5 588 Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2) 52 GAAGTGTAACGTCAAGGCCAA 0.592000 48 161 0 0 0.870114 0 0 SMAD4 4089 broad.mit.edu 37 18 48604787 48604787 + Missense_Mutation SNP G G C TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr18:48604787G>C ENST00000342988.3 + 12 2147 c.1609G>C c.(1609-1611)Gac>Cac p.D537H SMAD4_ENST00000586253.1_3'UTR|SMAD4_ENST00000588745.1_Missense_Mutation_p.D441H|SMAD4_ENST00000398417.2_Missense_Mutation_p.D537H NM_005359.5 NP_005350.1 Q13485 SMAD4_HUMAN SMAD family member 4 537 MH2. BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(36)|p.D537Y(3)|p.?(2)|p.L536fs*11(1)|p.L536fs*14(1) NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1) 454 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) CCAGCTCCTAGACGAAGTACT 0.488000 98 308 0 0 0.870114 0 0 PPBPP2 0 broad.mit.edu 37 4 74919842 74919842 + RNA SNP G G C TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr4:74919842G>C ENST00000513150.1 - 0 1274 NR_026769.1 CCATCTTACAGAGTGGCTCTG 0.413000 22 129 0 0 0.654019 0 0 RP11-343N15.1 0 broad.mit.edu 37 1 121116689 121116689 + RNA SNP C C T TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr1:121116689C>T ENST00000437515.1 - 0 329 CTTTTCAGCACCAAGCCAAGT 0.403000 6 395 0 0 0.248553 0 0 AC024560.3 0 broad.mit.edu 37 3 197348739 197348739 + RNA SNP G G C TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr3:197348739G>C ENST00000418868.1 - 0 520 NR_003266.2 TAATTTTCTAGCTGTGAAAGA 0.398000 6 710 0 0 0.387290 0 0 SLC35G5 83650 broad.mit.edu 37 8 11189485 11189485 + Silent SNP G G T TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr8:11189485G>T ENST00000382435.4 + 1 1089 c.870G>T c.(868-870)gtG>gtT p.V290V NM_054028.1 NP_473369.1 Q96KT7 AMCL2_HUMAN solute carrier family 35, member G5 290 DUF6 2. integral to membrane ATTCCGAGGTGGTTGTGGCCC 0.572000 9 948 0.0931896 0.0940498 0.411799 1 0 TXNDC2 0 broad.mit.edu 37 18 9887074 9887074 + Missense_Mutation SNP G G A TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr18:9887074G>A ENST00000306084.6 + 2 797 c.598G>A c.(598-600)Gaa>Aaa p.E200K TXNDC2_ENST00000536353.2_Intron|TXNDC2_ENST00000357775.4_Missense_Mutation_p.E133K NM_001098529.1 NP_001091999.1 Q86VQ3 TXND2_HUMAN thioredoxin domain containing 2 (spermatozoa) 200 22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31 GTCCTCAGAAGAAGCCATCCA 0.577000 12 1537 0 0 0.411799 0 0 OR2T35 403244 broad.mit.edu 37 1 248801912 248801912 + Silent SNP C C G rs146851066 by1000genomes TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr1:248801912C>G ENST00000317450.3 - 1 647 c.648G>C c.(646-648)gtG>gtC p.V216V NM_001001827.1 NP_001001827.1 Q8NGX2 O2T35_HUMAN olfactory receptor, family 2, subfamily T, member 35 216 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V216V(1) endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1) 6 all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.237) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GCGTGTAGGACACAGAGATGA 0.542000 5 188 0 0 0.217242 0 0 ZNF181 339318 broad.mit.edu 37 19 35232753 35232753 + Silent SNP T T C TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr19:35232753T>C ENST00000392232.3 + 6 1767 c.1599T>C c.(1597-1599)taT>taC p.Y533Y ZNF181_ENST00000492450.1_Silent_p.Y489Y|ZNF181_ENST00000459757.1_Silent_p.Y488Y Q2M3W8 ZN181_HUMAN zinc finger protein 181 489 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1) 22 all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.138) AGAAACCTTATGAATGTATTA 0.388000 6 401 0 0 0.217242 0 0 THSD4 79875 broad.mit.edu 37 15 71704038 71704038 + Missense_Mutation SNP G G A TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr15:71704038G>A ENST00000355327.3 + 7 1162 c.1028G>A c.(1027-1029)cGc>cAc p.R343H THSD4_ENST00000261862.6_Missense_Mutation_p.R343H Q6ZMP0 THSD4_HUMAN thrombospondin, type I, domain containing 4 343 proteinaceous extracellular matrix metalloendopeptidase activity breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 AAAGGCAATCGCAAATGTGAG 0.423000 48 190 0 0 0.859065 0 0 ANK3 288 broad.mit.edu 37 10 61958166 61958166 + Nonsense_Mutation SNP G G A TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr10:61958166G>A ENST00000280772.1 - 14 1812 c.1621C>T c.(1621-1623)Cga>Tga p.R541* ANK3_ENST00000373827.2_Nonsense_Mutation_p.R535*|ANK3_ENST00000503366.1_Nonsense_Mutation_p.R524* NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 541 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding p.R541*(1)|p.R202*(1) 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 TGCCCCTCTCGGGCGGAAAGG 0.507000 6 507 0 0 0.248553 0 0 SLC4A7 9497 broad.mit.edu 37 3 27431585 27431585 + Missense_Mutation SNP C C T TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr3:27431585C>T ENST00000295736.5 - 22 3240 c.3170G>A c.(3169-3171)cGt>cAt p.R1057H SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000437179.1_Missense_Mutation_p.R938H|SLC4A7_ENST00000388777.4_Missense_Mutation_p.R607H|SLC4A7_ENST00000428386.1_Missense_Mutation_p.R933H|SLC4A7_ENST00000435667.2_Missense_Mutation_p.R942H|SLC4A7_ENST00000440156.1_Missense_Mutation_p.R1053H|SLC4A7_ENST00000455077.1_Missense_Mutation_p.R938H|SLC4A7_ENST00000445684.1_Missense_Mutation_p.R1053H|SLC4A7_ENST00000454389.1_Missense_Mutation_p.R1066H|SLC4A7_ENST00000446700.1_Missense_Mutation_p.R1049H NM_003615.4 NP_003606.3 Q9Y6M7 S4A7_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 7 1057 apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1) 38 TAATTTTATACGGTCAAATAA 0.328000 6 897 0 0 0.248553 0 0 WASH3P 0 broad.mit.edu 37 15 102515299 102515299 + RNA SNP G G A TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr15:102515299G>A ENST00000557932.1 + 0 1145 p.G374S(10) central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 TGGGGGCATCGGCAAGGCCAA 0.652000 20 127 0 0 0.624587 0 0 SORCS3 22986 broad.mit.edu 37 10 106924113 106924113 + Silent SNP C C T TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr10:106924113C>T ENST00000369701.3 + 12 2012 c.1785C>T c.(1783-1785)tcC>tcT p.S595S NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 595 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) TCATCTCCTCCGATGGGGGCA 0.433000 6 298 0 0 0.335167 0 0 NXPE4 54827 broad.mit.edu 37 11 114453438 114453438 + Silent SNP G G A rs73557425 by1000genomes TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr11:114453438G>A ENST00000375478.3 - 3 582 c.402C>T c.(400-402)ggC>ggT p.G134G NXPE4_ENST00000424261.2_Intron NM_001077639.1 NP_001071107.1 neurexophilin and PC-esterase domain family, member 4 GGAAATCCCCGCCATATTGCT 0.582000 100 236 0 0 0.870114 0 0 RBBP8 5932 broad.mit.edu 37 18 20516852 20516852 + Missense_Mutation SNP C C G TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr18:20516852C>G ENST00000399722.2 + 2 389 c.38C>G c.(37-39)tCt>tGt p.S13C RBBP8_ENST00000399725.2_Missense_Mutation_p.S13C|RBBP8_ENST00000360790.5_Missense_Mutation_p.S13C|RBBP8_ENST00000327155.5_Missense_Mutation_p.S13C NM_203291.1 NP_976036.1 Q99708 COM1_HUMAN retinoblastoma binding protein 8 13 cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter nucleus damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1) 24 all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19) OV - Ovarian serous cystadenocarcinoma(1;0.00196) AGCCCTAACTCTGCAGATACA 0.358000 Homologous recombination 288 580 0 0 0.870114 0 0 TMEM218 219854 broad.mit.edu 37 11 124972109 124972109 + Missense_Mutation SNP G G A TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr11:124972109G>A ENST00000455225.1 - 2 680 c.29C>T c.(28-30)gCg>gTg p.A10V TMEM218_ENST00000528724.1_Missense_Mutation_p.A10V|TMEM218_ENST00000531262.1_Intron|TMEM218_ENST00000527271.1_Missense_Mutation_p.A10V|TMEM218_ENST00000531909.1_Missense_Mutation_p.A10V|TMEM218_ENST00000279968.4_Missense_Mutation_p.A10V|TMEM218_ENST00000532407.1_Missense_Mutation_p.A10V|TMEM218_ENST00000529609.1_Missense_Mutation_p.A10V|TMEM218_ENST00000527766.1_Missense_Mutation_p.A10V|TMEM218_ENST00000526175.1_Missense_Mutation_p.A10V|TMEM218_ENST00000529583.1_Missense_Mutation_p.A10V|TMEM218_ENST00000532156.1_Missense_Mutation_p.A10V A2RU14 TM218_HUMAN transmembrane protein 218 10 integral to membrane breast(1)|large_intestine(2)|lung(1)|prostate(1) 5 GAACACGCCCGCACCGACTCC 0.682000 5 234 0 0 0.184627 0 0 FRG1B 0 broad.mit.edu 37 20 29625934 29625934 + Missense_Mutation SNP C C T TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr20:29625934C>T ENST00000278882.3 + 5 558 c.178C>T c.(178-180)Cat>Tat p.H60Y FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y|FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ACTTGTTGGGCATTCAGATGC 0.338000 6 585 0 0 0.539581 0 0 PRSS3P2 0 broad.mit.edu 37 7 142481789 142481789 + RNA SNP T T C rs140267598 by1000genomes TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr7:142481789T>C ENST00000603901.1 + 0 468 NR_001296.3 ACTACCCAGATGAGCTGCAGT 0.488000 19 433 0 0 0.681144 0 0 HLA-DRB6 0 broad.mit.edu 37 6 32522722 32522722 + RNA SNP C C A rs114905475 by1000genomes TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr6:32522722C>A ENST00000411500.1 - 0 484 NR_001298.1 TGGGTCTTTGCAGGATACACA 0.488000 9 161 3.07112e-06 3.24944e-06 0.387290 1 0 LMTK3 114783 broad.mit.edu 37 19 49000674 49000674 + Nonsense_Mutation SNP G G A TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr19:49000674G>A ENST00000600059.1 - 11 3879 c.3652C>T c.(3652-3654)Cag>Tag p.Q1218* LMTK3_ENST00000270238.3_Nonsense_Mutation_p.Q1247* lemur tyrosine kinase 3 breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1) 16 all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231) CTGTTCCCCTGAGGGGGTCCC 0.662000 83 385 0 0 0.870114 0 0 GPR26 2849 broad.mit.edu 37 10 125447567 125447567 + Missense_Mutation SNP G G A rs141519939 TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr10:125447567G>A ENST00000284674.1 + 3 958 c.905G>A c.(904-906)cGc>cAc p.R302H NM_153442.3 NP_703143.1 Q8NDV2 GPR26_HUMAN G protein-coupled receptor 26 302 activation of adenylate cyclase activity by G-protein signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.R302H(1) breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 20 Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226) CACCAGTACCGCAAAAGCTGC 0.597000 6 470 0 0 0.217242 0 0 CCDC15 80071 broad.mit.edu 37 11 124857585 124857585 + Missense_Mutation SNP C C A rs112861775 TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr11:124857585C>A ENST00000529051.1 + 8 1722 c.1463C>A c.(1462-1464)cCc>cAc p.P488H CCDC15_ENST00000344762.5_Missense_Mutation_p.P488H Q0P6D6 CCD15_HUMAN coiled-coil domain containing 15 488 centrosome central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1) 23 all_hematologic(175;0.215) Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413) CATGTTCTCCCCAAAGACCAA 0.403000 8 1243 0.00116845 0.00119393 0.217242 1 0 DMP1 1758 broad.mit.edu 37 4 88583249 88583249 + Missense_Mutation SNP G G T TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr4:88583249G>T ENST00000339673.6 + 6 418 c.319G>T c.(319-321)Gat>Tat p.D107Y RP11-742B18.1_ENST00000507894.1_RNA|DMP1_ENST00000282479.7_Missense_Mutation_p.D91Y|RP11-742B18.1_ENST00000506480.1_RNA NM_004407.3 NP_004398.1 Q13316 DMP1_HUMAN dentin matrix acidic phosphoprotein 1 107 biomineral tissue development|ossification cytoplasm|nucleus|proteinaceous extracellular matrix calcium ion binding|integrin binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1) 32 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227) OV - Ovarian serous cystadenocarcinoma(123;0.000516) TGACGATGAAGATGACAGTGG 0.507000 10 392 0.000673444 0.000692444 0.361761 1 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128792 45128792 + RNA SNP G G T rs143713325 by1000genomes TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr17:45128792G>T ENST00000575173.1 - 0 418 AATTCAGGTTGTCAGAATGCA 0.373000 14 133 4.3838e-07 4.66846e-07 0.435327 1 0 INPP5F 22876 broad.mit.edu 37 10 121510593 121510593 + Missense_Mutation SNP G G A TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr10:121510593G>A ENST00000361976.2 + 2 269 c.103G>A c.(103-105)Gat>Aat p.D35N INPP5F_ENST00000369083.3_Missense_Mutation_p.D35N NM_014937.3 NP_055752.1 Q9Y2H2 SAC2_HUMAN inositol polyphosphate-5-phosphatase F 35 phosphoric ester hydrolase activity breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 42 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158) TTTAGCTACTGATCTACTTCT 0.328000 OREG0020583 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 80 253 0 0 0.870114 0 0 GOLT1A 127845 broad.mit.edu 37 1 204170871 204170871 + Silent SNP C C T TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr1:204170871C>T ENST00000308302.3 - 3 371 c.186G>A c.(184-186)cgG>cgA p.R62R NM_198447.1 NP_940849.1 Q6ZVE7 GOT1A_HUMAN golgi transport 1A 62 protein transport|vesicle-mediated transport Golgi membrane|integral to membrane p.R62R(1) kidney(1)|lung(2)|urinary_tract(1) 4 all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244) TGAGTTTGTGCCGTTGGAAGA 0.567000 7 863 0 0 0.278610 0 0 KRTAP5-1 387264 broad.mit.edu 37 11 1606186 1606186 + Silent SNP A A G rs137999496 TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr11:1606186A>G ENST00000382171.2 - 1 327 c.294T>C c.(292-294)ggT>ggC p.G98G KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA NM_001005922.1 NP_001005922.1 Q6L8H4 KRA51_HUMAN keratin associated protein 5-1 98 8 X 4 AA repeats of C-C-X-P. keratin filament endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1) 16 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) AGGAGCCACAACCCCCCTTGG 0.677000 31 513 0 0 0.870114 0 0 NAF1 92345 broad.mit.edu 37 4 164050124 164050124 + Silent SNP T T G TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr4:164050124T>G ENST00000274054.2 - 8 1603 c.1410A>C c.(1408-1410)ccA>ccC p.P470P NAF1_ENST00000509434.1_Intron|NAF1_ENST00000422287.2_Intron NM_138386.2 NP_612395.2 Q96HR8 NAF1_HUMAN nuclear assembly factor 1 ribonucleoprotein 470 Pro-rich. rRNA processing|snRNA pseudouridine synthesis cytoplasm|nucleus|small nucleolar ribonucleoprotein complex protein binding|snoRNA binding NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2) 21 all_hematologic(180;0.166) Prostate(90;0.109) ggggagggggtgggggtaggg 0.522000 6 53 0 0 0.624587 0 0 KRTAP4-4 84616 broad.mit.edu 37 17 39316759 39316759 + Missense_Mutation SNP T T C TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr17:39316759T>C ENST00000390661.3 - 1 224 c.185A>G c.(184-186)cAc>cGc p.H62R NM_032524.1 NP_115913.1 Q9BYR3 KRA44_HUMAN keratin associated protein 4-4 62 26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR]. Missing (in allele KAP4.13).|Missing (in allele KAP4.4-v1). keratin filament kidney(1)|large_intestine(1)|lung(5) 7 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) GCAGCTGGGGTGGCAGCAGGT 0.662000 7 663 0 0 0.387290 0 0 PRIM1 5557 broad.mit.edu 37 12 57144844 57144844 + Missense_Mutation SNP A A G TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr12:57144844A>G ENST00000338193.6 - 2 275 c.239T>C c.(238-240)aTa>aCa p.I80T PRIM1_ENST00000552408.1_5'UTR NM_000946.2 NP_000937.1 P49642 PRI1_HUMAN primase, DNA, polypeptide 1 (49kDa) 80 DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|nucleoplasm DNA primase activity|metal ion binding kidney(1)|lung(6)|prostate(1) 8 TACTGCGCCTATATCAATCTT 0.328000 11 61 0 0 0.361761 0 0 ZNF761 388561 broad.mit.edu 37 19 53958820 53958820 + RNA SNP T T C TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr19:53958820T>C ENST00000454407.1 + 0 1512 Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) GAGAGAAACCTTACAAGTGTA 0.408000 7 1247 0 0 0.150653 0 0 ZNF493 284443 broad.mit.edu 37 19 21606544 21606544 + Silent SNP C C T TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr19:21606544C>T ENST00000392288.2 + 4 1192 c.1083C>T c.(1081-1083)tcC>tcT p.S361S ZNF493_ENST00000355504.4_Silent_p.S233S|CTD-2561J22.3_ENST00000600810.1_Intron NM_001076678.2 NP_001070146.1 Q6ZR52 ZN493_HUMAN zinc finger protein 493 233 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 ATAAGGAGTCCTCACACCTTA 0.358000 5 471 0 0 0.248553 0 0 TRIML1 339976 broad.mit.edu 37 4 189060986 189060986 + Missense_Mutation SNP C C A TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr4:189060986C>A ENST00000332517.3 + 1 414 c.274C>A c.(274-276)Cag>Aag p.Q92K NM_178556.3 NP_848651.2 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 92 multicellular organismal development ligase activity|zinc ion binding NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 60 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) CGAGGATGAGCAGGGCAGCTA 0.647000 12 386 2.80697e-09 3.02858e-09 0.387290 1 0 XIRP2 129446 broad.mit.edu 37 2 168100186 168100186 + Missense_Mutation SNP G G A TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr2:168100186G>A ENST00000409195.1 + 9 2373 c.2284G>A c.(2284-2286)Gtt>Att p.V762I XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.V540I|XIRP2_ENST00000295237.9_Missense_Mutation_p.V762I NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 587 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 CAGAGAAGACGTTGAAAAGGG 0.363000 5 432 0 0 0.248553 0 0 BRD3 8019 broad.mit.edu 37 9 136901211 136901211 + Missense_Mutation SNP G G A TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr9:136901211G>A ENST00000303407.7 - 10 2064 c.1879C>T c.(1879-1881)Cgg>Tgg p.R627W BRD3_ENST00000371834.2_3'UTR|BRD3_ENST00000473349.1_5'UTR NM_007371.3 NP_031397.1 Q15059 BRD3_HUMAN bromodomain containing 3 627 nucleus protein binding BRD3/C15orf55(3) kidney(1)|skin(1)|stomach(4) 6 OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07) TCCAGTTCCCGCAAAGTGGTG 0.512000 T C15orf55 lethal midline carcinoma of young people 5 364 0 0 0.217242 0 0 FAM135B 51059 broad.mit.edu 37 8 139180258 139180258 + Missense_Mutation SNP G G A TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr8:139180258G>A ENST00000395297.1 - 12 1308 c.1138C>T c.(1138-1140)Cgg>Tgg p.R380W NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 380 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TCCGAGTTCCGGATATCCAGG 0.597000 HNSCC(54;0.14) 21 720 0 0 0.654019 0 0 CCDC8 83987 broad.mit.edu 37 19 46914994 46914994 + Silent SNP G G A TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr19:46914994G>A ENST00000307522.3 - 1 1847 c.1074C>T c.(1072-1074)aaC>aaT p.N358N NM_032040.4 NP_114429.2 Q9H0W5 CCDC8_HUMAN coiled-coil domain containing 8 358 plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421) CTTCCCTCTGGTTATCTGCAG 0.587000 9 1408 0 0 0.184627 0 0 GPX1 2876 broad.mit.edu 37 3 49395482 49395482 + Missense_Mutation SNP G G C TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr3:49395482G>C ENST00000419783.1 - 1 551 c.230C>G c.(229-231)cCg>cGg p.P77R GPX1_ENST00000419349.1_Missense_Mutation_p.P77R|GPX1_ENST00000496791.1_5'UTR NM_000581.2 NP_000572.2 P07203 GPX1_HUMAN glutathione peroxidase 1 77 anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection cytosol|mitochondrion endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding breast(1)|large_intestine(2)|lung(1) 4 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) Glutathione(DB00143) CTGGTTGCACGGGAAGCCGAG 0.726000 7 133 0 0 0.435327 0 0 ALG1 56052 broad.mit.edu 37 16 5129756 5129756 + Silent SNP A A G TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr16:5129756A>G ENST00000588623.1 + 10 1676 c.576A>G c.(574-576)gaA>gaG p.E192E ALG1_ENST00000544428.1_Silent_p.E192E|ALG1_ENST00000262374.5_Silent_p.E303E Q9BT22 ALG1_HUMAN ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase 303 dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane chitobiosyldiphosphodolichol beta-mannosyltransferase activity p.E303E(3) breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Ovarian(90;0.0164) CAGAGTTTGAACAACTGACTC 0.443000 6 724 0 0 0.387290 0 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|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, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) 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) tgctgctgctactgctgctgc 0.532000 T MLL ALL 18 271 0 0 0.624587 0 0 PCDHB4 0 broad.mit.edu 37 5 140502496 140502496 + Missense_Mutation SNP T T A TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr5:140502496T>A ENST00000194152.1 + 1 916 c.916T>A c.(916-918)Ttg>Atg p.L306M NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 306 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.L306M(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) GAAAAAAAAATTGGATTTCGA 0.373000 8 1082 0 0 0.278610 0 0 SMU1 55234 broad.mit.edu 37 9 33068870 33068870 + Silent SNP G G A rs113018466 byFrequency TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr9:33068870G>A ENST00000397149.3 - 4 503 c.453C>T c.(451-453)ggC>ggT p.G151G SMU1_ENST00000536631.1_5'UTR NM_018225.2 NP_060695.2 Q2TAY7 SMU1_HUMAN smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans) 151 cytoplasm|nucleus endometrium(2)|lung(4)|ovary(2)|prostate(1) 9 LUSC - Lung squamous cell carcinoma(29;0.0227) GBM - Glioblastoma multiforme(74;0.11) CACTGACTTCGCCAGCTAAGG 0.507000 5 302 0 0 0.335167 0 0 KIF1B 23095 broad.mit.edu 37 1 10425167 10425167 + Missense_Mutation SNP G G C TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr1:10425167G>C ENST00000377086.1 + 42 4578 c.4376G>C c.(4375-4377)aGa>aCa p.R1459T KIF1B_ENST00000377081.1_Missense_Mutation_p.R1459T|KIF1B_ENST00000263934.6_Missense_Mutation_p.R1413T O60333 KIF1B_HUMAN kinesin family member 1B 1459 anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2) 71 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) GGTATGCAGAGAAGGAGAAGA 0.393000 43 274 0 0 0.864702 0 0 ZNF772 400720 broad.mit.edu 37 19 57985282 57985282 + Missense_Mutation SNP C C T TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr19:57985282C>T ENST00000343280.4 - 5 1090 c.830G>A c.(829-831)cGc>cAc p.R277H ZNF772_ENST00000425074.3_3'UTR|ZNF772_ENST00000427512.2_Missense_Mutation_p.R165H|AC004076.9_ENST00000415705.3_Intron|AC004076.9_ENST00000596831.1_Intron|ZNF772_ENST00000601768.1_Intron|ZNF772_ENST00000356584.3_Missense_Mutation_p.R236H|ZNF772_ENST00000600175.1_Intron NM_001024596.2 NP_001019767.1 Q68DY9 ZN772_HUMAN zinc finger protein 772 277 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R277H(1) breast(1)|endometrium(1)|large_intestine(4)|lung(3) 9 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174) TGAGTCTTTGCGGCTGAAGGT 0.488000 7 710 0 0 0.307466 0 0 NFE2L3 9603 broad.mit.edu 37 7 26225102 26225102 + Missense_Mutation SNP G G A TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr7:26225102G>A ENST00000056233.3 + 4 2043 c.1784G>A c.(1783-1785)tGt>tAt p.C595Y NM_004289.6 NP_004280.5 Q9Y4A8 NF2L3_HUMAN nuclear factor, erythroid 2-like 3 595 transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity p.C595Y(1) breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7) 29 GCGCAGAACTGTCGTAAACGC 0.368000 5 269 0 0 0.307466 0 0 AKAP13 11214 broad.mit.edu 37 15 86212982 86212982 + Silent SNP T T C TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr15:86212982T>C ENST00000394518.2 + 14 5117 c.5022T>C c.(5020-5022)ttT>ttC p.F1674F AKAP13_ENST00000560579.1_3'UTR|RP11-815J21.4_ENST00000558980.1_RNA|AKAP13_ENST00000361243.2_Silent_p.F1678F NM_001270546.1|NM_007200.3 NP_001257475.1|NP_009131.2 Q12802 AKP13_HUMAN A kinase (PRKA) anchor protein 13 1674 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 98 AGCAGGGATTTAATTACTGTA 0.348000 83 390 0 0 0.870114 0 0 ANKRD28 23243 broad.mit.edu 37 3 15718557 15718557 + Missense_Mutation SNP C C T TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr3:15718557C>T ENST00000399451.2 - 26 3074 c.2707G>A c.(2707-2709)Gaa>Aaa p.E903K ANKRD28_ENST00000383777.1_Missense_Mutation_p.E936K|ANKRD28_ENST00000497037.1_5'UTR NM_001195098.1|NM_001195099.1|NM_015199.3 NP_001182027.1|NP_001182028.1|NP_056014.2 O15084 ANR28_HUMAN ankyrin repeat domain 28 903 nucleoplasm protein binding breast(2)|endometrium(1)|large_intestine(2)|prostate(1) 6 GCACTAGTTTCATGACCCTAT 0.358000 78 326 0 0 0.870114 0 0 GPR12 0 broad.mit.edu 37 13 27333003 27333003 + Missense_Mutation SNP G G A TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr13:27333003G>A ENST00000405846.3 - 2 1183 c.962C>T c.(961-963)cCg>cTg p.P321L GPR12_ENST00000381436.2_Missense_Mutation_p.P321L NM_005288.3 NP_005279.1 P47775 GPR12_HUMAN G protein-coupled receptor 12 321 integral to plasma membrane endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 Colorectal(5;5.77e-05) Breast(139;0.198) Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184) GAGACTGGACGGGATGCAGCC 0.557000 8 328 0 0 0.278610 0 0 OR1M1 125963 broad.mit.edu 37 19 9204125 9204125 + Missense_Mutation SNP G G A TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr19:9204125G>A ENST00000429566.3 + 1 271 c.205G>A c.(205-207)Gtt>Att p.V69I NM_001004456.1 NP_001004456.1 Q8NGA1 OR1M1_HUMAN olfactory receptor, family 1, subfamily M, member 1 69 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V69I(2) breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 CCTGTCCCTGGTTGATTTCTG 0.557000 6 536 0 0 0.435327 0 0 ZAN 7455 broad.mit.edu 37 7 100350369 100350369 + RNA SNP C C T TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr7:100350369C>T ENST00000542585.1 + 0 2789 ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) ACTCACCATCCCCACGGAAAA 0.502000 8 1216 0 0 0.361761 0 0 ZNF418 147686 broad.mit.edu 37 19 58438625 58438625 + Silent SNP A A G TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr19:58438625A>G ENST00000396147.1 - 4 1215 c.924T>C c.(922-924)caT>caC p.H308H ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000599852.1_Silent_p.H223H|ZNF418_ENST00000425570.3_Silent_p.H329H|ZNF418_ENST00000595830.1_Silent_p.H308H NM_133460.1 NP_597717.1 Q8TF45 ZN418_HUMAN zinc finger protein 418 308 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.H308H(2) cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 31 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158) TTTCTCCAGTATGAACTCGCT 0.418000 8 975 0 0 0.307466 0 0 MLLT3 4300 broad.mit.edu 37 9 20414379 20414379 + Silent SNP G G A TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr9:20414379G>A ENST00000380338.4 - 5 751 c.465C>T c.(463-465)agC>agT p.S155S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S152S|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, 3 155 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S155S(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 0.532000 T MLL ALL 6 242 0 0 0.307466 0 0 PCDHB2 0 broad.mit.edu 37 5 140475912 140475912 + Missense_Mutation SNP G G A TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr5:140475912G>A ENST00000194155.4 + 1 1686 c.1538G>A c.(1537-1539)gGc>gAc p.G513D NM_018936.2 NP_061759.1 Q9Y5E7 PCDB2_HUMAN 513 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCGGACAACGGCCACCTGTTC 0.701000 8 1297 0 0 0.307466 0 0 SLC2A9 56606 broad.mit.edu 37 4 9998478 9998478 + Missense_Mutation SNP T T C TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr4:9998478T>C ENST00000506583.1 - 5 467 c.250A>G c.(250-252)Act>Gct p.T84A SLC2A9_ENST00000264784.3_Missense_Mutation_p.T113A|SLC2A9_ENST00000309065.3_Missense_Mutation_p.T84A Q9NRM0 GTR9_HUMAN solute carrier family 2 (facilitated glucose transporter), member 9 113 glucose transport|urate metabolic process integral to membrane|plasma membrane sugar:hydrogen symporter activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1) 35 ATGGACACAGTCACAGACCAG 0.468000 98 393 0 0 0.870114 0 0 GPR125 166647 broad.mit.edu 37 4 22390725 22390725 + Silent SNP C C T TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr4:22390725C>T ENST00000334304.5 - 18 2978 c.2709G>A c.(2707-2709)cgG>cgA p.R903R GPR125_ENST00000282943.5_5'UTR NM_145290.2 NP_660333.2 Q8IWK6 GP125_HUMAN G protein-coupled receptor 125 903 neuropeptide signaling pathway integral to membrane G-protein coupled receptor activity p.R903R(1) breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 56 Breast(46;0.198) GTGCGTTTGGCCGACTGCCGT 0.418000 11 1629 0 0 0.248553 0 0 MUC1 4582 broad.mit.edu 37 1 155161799 155161799 + Missense_Mutation SNP T T G TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr1:155161799T>G ENST00000368395.1 - 2 405 c.334A>C c.(334-336)Acc>Ccc p.T112P MUC1_ENST00000368396.4_Intron|MUC1_ENST00000368398.3_Intron|MUC1_ENST00000343256.5_Intron|MUC1_ENST00000338684.5_Intron|MUC1_ENST00000457295.2_Intron|MUC1_ENST00000342482.4_Intron|MUC1_ENST00000337604.5_Intron|MUC1_ENST00000438413.1_Intron|MUC1_ENST00000368390.3_Intron|MUC1_ENST00000368392.3_Intron|MUC1_ENST00000368393.3_Intron|MUC1_ENST00000462215.1_Intron|MUC1_ENST00000368389.2_Intron NM_001204285.1|NM_001204286.1 NP_001191214.1|NP_001191215.1 P15941 MUC1_HUMAN mucin 1, cell surface associated 892 apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus protein binding breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2) 10 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) GCTGGCGGGGTGGTGGAGCCC 0.711000 T IGH@ B-NHL 25 81 0 0 0.779181 0 0 ARRB2 409 broad.mit.edu 37 17 4619828 4619828 + Silent SNP A A C TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr17:4619828A>C ENST00000269260.2 + 5 515 c.282A>C c.(280-282)ccA>ccC p.P94P ARRB2_ENST00000572457.1_5'UTR|ARRB2_ENST00000346341.2_Silent_p.P79P|ARRB2_ENST00000381488.6_Silent_p.P79P|ARRB2_ENST00000571206.1_5'UTR|ARRB2_ENST00000412477.3_Silent_p.P94P|ARRB2_ENST00000575877.1_Silent_p.P94P|ARRB2_ENST00000570718.1_3'UTR|ARRB2_ENST00000574954.1_5'UTR NM_001257328.1|NM_001257330.1|NM_004313.3 NP_001244257.1|NP_001244259.1|NP_004304.1 P32121 ARRB2_HUMAN arrestin, beta 2 94 cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane angiotensin receptor binding|ubiquitin protein ligase binding large_intestine(1)|liver(2)|lung(3)|prostate(1) 7 TGCCCAACCCACCCCGGCCCC 0.667000 14 103 0 0 0.729181 0 0 TRIOBP 11078 broad.mit.edu 37 22 38120840 38120840 + Silent SNP T T C TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr22:38120840T>C ENST00000406386.3 + 7 2532 c.2277T>C c.(2275-2277)ccT>ccC p.P759P RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 759 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) CCTCCTCTCCTAACAGAACCA 0.562000 7 521 0 0 0.411799 0 0 UBXN10 127733 broad.mit.edu 37 1 20517413 20517413 + Missense_Mutation SNP T T C TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr1:20517413T>C ENST00000375099.3 + 2 443 c.359T>C c.(358-360)aTc>aCc p.I120T NM_152376.3 NP_689589.1 Q96LJ8 UBX10_HUMAN UBX domain protein 10 120 endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2) 14 CTTCCTTCCATCAACAGAAAG 0.527000 6 434 0 0 0.217242 0 0 CD209 30835 broad.mit.edu 37 19 7810766 7810766 + Missense_Mutation SNP C C T TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr19:7810766C>T ENST00000315599.7 - 4 408 c.386G>A c.(385-387)cGg>cAg p.R129Q CD209_ENST00000394161.5_Intron|CD209_ENST00000204801.8_Missense_Mutation_p.R85Q|CD209_ENST00000593821.1_Missense_Mutation_p.R85Q|CD209_ENST00000315591.8_Missense_Mutation_p.R105Q|CD209_ENST00000602261.1_Missense_Mutation_p.R129Q|CD209_ENST00000593660.1_Missense_Mutation_p.R105Q|CD209_ENST00000301357.8_Missense_Mutation_p.R85Q|CD209_ENST00000354397.6_Missense_Mutation_p.R129Q|CD209_ENST00000601256.1_Missense_Mutation_p.R105Q|CD209_ENST00000394173.4_Intron|CD209_ENST00000601951.1_Missense_Mutation_p.R105Q NM_001144895.1|NM_001144897.1|NM_021155.3 NP_001138367.1|NP_001138369.1|NP_066978.1 Q9NNX6 CD209_HUMAN CD209 molecule 129 7 X approximate tandem repeats. cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 AGCCTTCAGCCGGGTCAGCTC 0.567000 11 1249 0 0 0.335167 0 0 MARK1 4139 broad.mit.edu 37 1 220752846 220752846 + Missense_Mutation SNP A A C TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr1:220752846A>C ENST00000366918.4 + 2 799 c.202A>C c.(202-204)Aag>Cag p.K68Q MARK1_ENST00000402574.1_5'UTR|MARK1_ENST00000472121.1_3'UTR|MARK1_ENST00000366917.4_Missense_Mutation_p.K68Q Q9P0L2 MARK1_HUMAN MAP/microtubule affinity-regulating kinase 1 68 Protein kinase. intracellular protein kinase cascade cytoplasm|microtubule cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1) 63 GBM - Glioblastoma multiforme(131;0.0407) AACAATAGGGAAGGGAAATTT 0.433000 122 355 0 0 0.870114 0 0 KRTAP10-2 386679 broad.mit.edu 37 21 45971155 45971155 + Missense_Mutation SNP C C T TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr21:45971155C>T ENST00000391621.1 - 1 233 c.187G>A c.(187-189)Gag>Aag p.E63K KRTAP10-2_ENST00000498210.1_Intron|TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron NM_198693.2 NP_941966.1 P60368 KR102_HUMAN keratin associated protein 10-2 63 22 X 5 AA repeats of C-C-X(3). keratin filament large_intestine(1)|lung(4)|skin(1) 6 GCGCTGGGCTCACAGGCCGCC 0.711000 22 607 0 0 0.639603 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522772 95522772 + RNA SNP T T C TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr2:95522772T>C ENST00000432432.2 - 0 255 NR_040113.1 p.E49G(1) GCGCTCCACCTCCGCGGCGTC 0.682000 12 427 0 0 0.457914 0 0 LCE1E 353135 broad.mit.edu 37 1 152759802 152759802 + Missense_Mutation SNP G G T TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr1:152759802G>T ENST00000368770.3 + 2 80 c.27G>T c.(25-27)caG>caT p.Q9H LCE1E_ENST00000368771.1_Missense_Mutation_p.Q9H NM_178353.1 NP_848130.1 Q5T753 LCE1E_HUMAN late cornified envelope 1E 9 Cys-rich. keratinization lung(5)|stomach(1) 6 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GCCAGCAGCAGTGCCAGCCCC 0.602000 27 1221 3.32936e-07 3.5571e-07 0.539581 1 0 RNPEP 6051 broad.mit.edu 37 1 201966573 201966573 + Silent SNP C C T TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr1:201966573C>T ENST00000295640.4 + 5 1024 c.981C>T c.(979-981)atC>atT p.I327I RNPEP_ENST00000367286.3_Silent_p.I288I|RNPEP_ENST00000471105.1_3'UTR NM_020216.3 NP_064601.3 Q9H4A4 AMPB_HUMAN arginyl aminopeptidase (aminopeptidase B) 327 leukotriene biosynthetic process epoxide hydrolase activity|zinc ion binding breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005) TCCATGAGATCTCCCACAGTT 0.542000 100 506 0 0 0.870114 0 0 ZNF878 729747 broad.mit.edu 37 19 12155757 12155757 + Missense_Mutation SNP C C A TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr19:12155757C>A ENST00000602107.1 - 5 599 c.600G>T c.(598-600)agG>agT p.R200S CTD-2006C1.2_ENST00000476474.1_RNA|ZNF878_ENST00000547628.1_Missense_Mutation_p.R153S|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA C9JN71 ZN878_HUMAN zinc finger protein 878 153 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1) 8 AACTGGGAAACCTGAATGCTT 0.423000 7 979 0.00448238 0.0045659 0.307466 1 0 FRG1B 0 broad.mit.edu 37 20 29628245 29628245 + Missense_Mutation SNP G G A TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr20:29628245G>A ENST00000278882.3 + 6 627 c.247G>A c.(247-249)Gcc>Acc p.A83T FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T p.A83T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGCTTTGTTGGCCTCAAATAG 0.353000 19 1070 0 0 0.624587 0 0 ZER1 10444 broad.mit.edu 37 9 131513437 131513437 + Silent SNP G G A TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr9:131513437G>A ENST00000291900.2 - 7 1555 c.1149C>T c.(1147-1149)cgC>cgT p.R383R NM_006336.2 NP_006327.2 Q7Z7L7 ZER1_HUMAN zyg-11 related, cell cycle regulator 383 ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 15 AACGCTCGATGCGGGCGATGT 0.627000 29 109 0 0 0.717897 0 0 FBXO40 51725 broad.mit.edu 37 3 121345596 121345596 + Missense_Mutation SNP G G A TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr3:121345596G>A ENST00000338040.4 + 4 2383 c.1969G>A c.(1969-1971)Gtc>Atc p.V657I NM_016298.3 NP_057382.2 Q9UH90 FBX40_HUMAN F-box protein 40 657 muscle cell differentiation centrosome|nucleus ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 GBM - Glioblastoma multiforme(114;0.189) GTTTAATGAAGTCACCTCCAT 0.458000 25 1117 0 0 0.608945 0 0 TOX2 84969 broad.mit.edu 37 20 42694633 42694633 + Silent SNP C C T TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr20:42694633C>T ENST00000358131.5 + 6 1396 c.1188C>T c.(1186-1188)ggC>ggT p.G396G TOX2_ENST00000423191.1_Silent_p.G372G|TOX2_ENST00000435864.2_Silent_p.G292G|TOX2_ENST00000341197.3_Silent_p.G414G|TOX2_ENST00000372999.1_Silent_p.G372G NM_001098798.1 NP_001092268.1 Q96NM4 TOX2_HUMAN TOX high mobility group box family member 2 396 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2) 26 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.00189) ACGCCCAGGGCGCCCTCCTCA 0.711000 44 228 0 0 0.870114 0 0 CRIPAK 285464 broad.mit.edu 37 4 1389313 1389313 + Silent SNP T T C rs71299249 TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr4:1389313T>C ENST00000324803.4 + 1 3974 c.1014T>C c.(1012-1014)tgT>tgC p.C338C NM_175918.3 NP_787114.2 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 338 ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(23;0.0106) CATGCCGATGTGGAGTGCCCG 0.662000 10 1933 0 0 0.411799 0 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|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, 3 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S168S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.537000 T MLL ALL 9 291 0 0 0.335167 0 0 KRT4 3851 broad.mit.edu 37 12 53202606 53202606 + Missense_Mutation SNP C C G TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr12:53202606C>G ENST00000293774.4 - 5 1355 c.1085G>C c.(1084-1086)aGc>aCc p.S362T KRT4_ENST00000458244.2_Missense_Mutation_p.S268T|KRT4_ENST00000551956.1_Missense_Mutation_p.S288T B4DRS2 B4DRS2_HUMAN keratin 4 288 keratin filament structural molecule activity endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2) 29 GGACGTGTCGCTGACATGGGT 0.577000 87 362 0 0 0.870114 0 0 ARHGAP15 55843 broad.mit.edu 37 2 143913143 143913143 + Silent SNP C C A TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr2:143913143C>A ENST00000409869.1 + 3 261 c.84C>A c.(82-84)atC>atA p.I28I ARHGAP15_ENST00000295095.6_Silent_p.I28I Q53QZ3 RHG15_HUMAN Rho GTPase activating protein 15 28 regulation of cell shape|small GTPase mediated signal transduction cytosol|membrane protein binding|Rac GTPase activator activity endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2) 34 BRCA - Breast invasive adenocarcinoma(221;0.151) AAATGAGAATCAAAAATGCCA 0.448000 10 327 0.000673444 0.000692444 0.361761 1 0 ADAMTS2 9509 broad.mit.edu 37 5 178552090 178552090 + Missense_Mutation SNP C C T TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr5:178552090C>T ENST00000251582.7 - 19 2943 c.2842G>A c.(2842-2844)Gac>Aac p.D948N NM_014244.4 NP_055059.2 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 2 948 TSP type-1 3. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) GTGGTGTTGTCGTGTAGCGGC 0.692000 8 1118 0 0 0.217242 0 0 FRG1B 0 broad.mit.edu 37 20 29625885 29625885 + Missense_Mutation SNP A A T TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr20:29625885A>T ENST00000278882.3 + 5 509 c.129A>T c.(127-129)aaA>aaT p.K43N FRG1B_ENST00000439954.2_Missense_Mutation_p.K48N|FRG1B_ENST00000358464.4_Missense_Mutation_p.K43N p.K43N(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TCGCCCTGAAATCTGGCTATG 0.353000 7 629 0 0 0.435327 0 0 IGHV4OR15-8 0 broad.mit.edu 37 15 22473194 22473194 + RNA SNP G G C TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr15:22473194G>C ENST00000557788.2 - 0 76 TCCTGGGCCCGACTCCTGCAG 0.617000 9 503 0 0 0.624587 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37486235 37486235 + Missense_Mutation SNP G G A TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr10:37486235G>A ENST00000374660.1 + 34 2929 c.2830G>A c.(2830-2832)Gag>Aag p.E944K ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E825K|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E825K Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 997 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 ATCTGCCTTCGAGGTATTTAG 0.333000 28 1011 0 0 0.387290 0 0 CDH11 1009 broad.mit.edu 37 16 64981819 64981819 + Missense_Mutation SNP C C T TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr16:64981819C>T ENST00000268603.4 - 13 2693 c.2078G>A c.(2077-2079)cGc>cAc p.R693H CDH11_ENST00000394156.3_3'UTR|CDH11_ENST00000566827.1_Missense_Mutation_p.R567H NM_001797.2 NP_001788.2 P55287 CAD11_HUMAN cadherin 11, type 2, OB-cadherin (osteoblast) 693 adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2) 88 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) GATGTCTTTGCGGGGGATAAA 0.488000 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 289 473 0 0 0.870114 0 0 PALMD 54873 broad.mit.edu 37 1 100111897 100111897 + Missense_Mutation SNP G G C TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr1:100111897G>C ENST00000263174.4 + 1 399 c.24G>C c.(22-24)aaG>aaC p.K8N PALMD_ENST00000605497.1_Missense_Mutation_p.K8N NM_017734.4 NP_060204.1 Q9NP74 PALMD_HUMAN palmdelphin 8 regulation of cell shape cytoplasm|membrane central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2) 31 all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216) Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201) AGCTGGTGAAGGGAAGACTCC 0.517000 93 550 0 0 0.870114 0 0 ARIH1 25820 broad.mit.edu 37 15 72858942 72858942 + Missense_Mutation SNP G G A TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr15:72858942G>A ENST00000379887.4 + 8 1264 c.950G>A c.(949-951)tGt>tAt p.C317Y NM_005744.3 NP_005735.2 Q9Y4X5 ARI1_HUMAN ariadne RBR E3 ubiquitin protein ligase 1 317 ubiquitin-dependent protein catabolic process cytoplasm|ubiquitin ligase complex ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1) 14 CCTGTTAAATGTAAGGTGAGT 0.318000 11 598 0 0 0.387290 0 0 PKD1L1 168507 broad.mit.edu 37 7 47869028 47869028 + Missense_Mutation SNP C C G TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr7:47869028C>G ENST00000289672.2 - 44 6780 c.6730G>C c.(6730-6732)Gaa>Caa p.E2244Q NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 2244 cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 TTTACTTTTTCAACCTCGCCT 0.408000 108 383 0 0 0.870114 0 0 MUC2 4583 broad.mit.edu 37 11 1093575 1093575 + Missense_Mutation SNP G G T rs114864285 by1000genomes TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr11:1093575G>T ENST00000359061.5 + 32 5262 c.5262G>T c.(5260-5262)acG>acT p.1754_1754insT MUC2_ENST00000441003.2_Silent_p.T1798T|MUC2_ENST00000333592.6_Silent_p.T86T|MUC2_ENST00000361558.6_Intron Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 0 inner mucus layer|outer mucus layer protein binding p.T1798T(1)|p.T1754T(1) NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) ccacaactacGGTGACCGCAA 0.582000 5 214 0.00116845 0.00119393 0.217242 1 0 ITGAL 0 broad.mit.edu 37 16 30505643 30505643 + Missense_Mutation SNP G G A TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr16:30505643G>A ENST00000356798.6 + 12 1504 c.1324G>A c.(1324-1326)Gga>Aga p.G442R ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Missense_Mutation_p.G359R|ITGAL_ENST00000568012.1_3'UTR NM_002209.2 NP_002200.2 P20701 ITAL_HUMAN integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) 442 blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) GCCACAGGGCGGAGGACACTG 0.647000 147 186 0 0 0.870114 0 0 ZNF845 91664 broad.mit.edu 37 19 53856730 53856730 + Silent SNP G G A TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr19:53856730G>A ENST00000458035.1 + 4 2919 c.2802G>A c.(2800-2802)aaG>aaA p.K934K ZNF845_ENST00000595091.1_Silent_p.K934K NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 934 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K934K(3) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 TAATTCATAAGACAATTCATA 0.368000 7 221 0 0 0.335167 0 0 RGPD3 653489 broad.mit.edu 37 2 107049681 107049681 + Missense_Mutation SNP T T C TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr2:107049681T>C ENST00000409886.3 - 16 2353 c.2266A>G c.(2266-2268)Aac>Gac p.N756D RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 756 intracellular transport binding p.N756D(6) breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 TCACTATAGTTTTCGAGTTCC 0.373000 9 1495 0 0 0.150653 0 0 DNM1P47 0 broad.mit.edu 37 15 102292953 102292953 + RNA SNP T T C TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr15:102292953T>C ENST00000561463.1 + 0 999 GGCACAGCGGTGCGACGAGAT 0.587000 5 44 0 0 0.278610 0 0 ZAN 7455 broad.mit.edu 37 7 100350298 100350298 + RNA SNP C C T TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr7:100350298C>T ENST00000542585.1 + 0 2718 ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) ACAGAAAAACCCACCATCCCC 0.498000 9 1215 0 0 0.278610 0 0 GREB1 9687 broad.mit.edu 37 2 11742547 11742547 + Missense_Mutation SNP C C T TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr2:11742547C>T ENST00000381486.2 + 17 2845 c.2545C>T c.(2545-2547)Cat>Tat p.H849Y GREB1_ENST00000234142.5_Missense_Mutation_p.H849Y NM_014668.3 NP_055483.2 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 849 integral to membrane breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1) 30 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) GGACTTATATCATGAAAATAA 0.507000 342 584 0 0 0.870114 0 0 TFAP2A 7020 broad.mit.edu 37 6 10410434 10410434 + Silent SNP T T G TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr6:10410434T>G ENST00000379613.3 - 2 442 c.186A>C c.(184-186)ccA>ccC p.P62P TFAP2A_ENST00000379608.3_Silent_p.P54P|TFAP2A_ENST00000482890.1_Silent_p.P60P|RP1-290I10.6_ENST00000420777.1_RNA|TFAP2A_ENST00000497266.1_Intron|TFAP2A_ENST00000379604.2_Silent_p.P60P|TFAP2A_ENST00000319516.4_Silent_p.P56P P05549 AP2A_HUMAN transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) 60 Gln/Pro-rich (transactivation domain). ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter centrosome|Golgi apparatus|nucleus chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 13 Breast(50;0.0427)|Ovarian(93;0.0991) all_hematologic(90;0.107) GCTGGTAGGGTGGGGGGAAGT 0.657000 14 293 0 0 0.864702 0 0 DCAF8L2 347442 broad.mit.edu 37 X 27766766 27766766 + Missense_Mutation SNP G G A TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chrX:27766766G>A ENST00000451261.2 + 5 2153 c.1754G>A c.(1753-1755)cGt>cAt p.R585H NM_001136533.1 NP_001130005.1 DDB1 and CUL4 associated factor 8-like 2 central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3) 24 TTCCTCCTGCGTCACGTGACG 0.493000 10 101 0 0 0.361761 0 0 PLEKHH2 130271 broad.mit.edu 37 2 43965587 43965587 + Missense_Mutation SNP G G C TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr2:43965587G>C ENST00000282406.4 + 20 3161 c.3051G>C c.(3049-3051)caG>caC p.Q1017H NM_172069.3 NP_742066.2 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 1017 MyTH4. cytoplasm|cytoskeleton|integral to membrane binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) CTGAGCTGCAGAATGAAATTT 0.393000 269 418 0 0 0.870114 0 0 RP13-996F3.4 0 broad.mit.edu 37 15 83014132 83014132 + Missense_Mutation SNP C C G TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr15:83014132C>G ENST00000557886.1 - 6 550 c.451G>C c.(451-453)Gag>Cag p.E151Q p.E151Q(4) endometrium(6)|kidney(5)|prostate(1) 12 GCTGGGGGCTCTGGGGCCAGG 0.522000 5 51 0 0 0.248553 0 0 RANBP2 5903 broad.mit.edu 37 2 109371685 109371685 + Missense_Mutation SNP A A T TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr2:109371685A>T ENST00000283195.6 + 17 2562 c.2436A>T c.(2434-2436)aaA>aaT p.K812N NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 812 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 CTTTACTGAAAATGATTTGCC 0.348000 7 1390 0 0 0.307466 0 0 MAST4 375449 broad.mit.edu 37 5 66461307 66461307 + Missense_Mutation SNP G G C TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr5:66461307G>C ENST00000404260.3 + 29 6617 c.6309G>C c.(6307-6309)gaG>gaC p.E2103D MAST4_ENST00000403625.2_Missense_Mutation_p.E2100D|MAST4_ENST00000261569.7_Missense_Mutation_p.E1906D|MAST4_ENST00000403666.1_Missense_Mutation_p.E1911D|MAST4_ENST00000405643.1_Missense_Mutation_p.E1921D O15021 MAST4_HUMAN microtubule associated serine/threonine kinase family member 4 2103 cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) TTGAGAGTGAGAAGAGTGAAA 0.562000 79 316 0 0 0.870114 0 0 EPG5 57724 broad.mit.edu 37 18 43460178 43460178 + Silent SNP C C T TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr18:43460178C>T ENST00000282041.5 - 32 5563 c.5529G>A c.(5527-5529)gaG>gaA p.E1843E EPG5_ENST00000585906.1_5'UTR NM_020964.2 NP_066015.2 Q9HCE0 EPG5_HUMAN ectopic P-granules autophagy protein 5 homolog (C. elegans) 1843 autophagy NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 95 TCAGAAGCTGCTCCGCGGAGC 0.592000 OREG0024951 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 166 0 0 0.217242 0 0 FBXO45 200933 broad.mit.edu 37 3 196311085 196311085 + Missense_Mutation SNP G G A TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr3:196311085G>A ENST00000311630.6 + 3 1054 c.757G>A c.(757-759)Gct>Act p.A253T FBXO45_ENST00000440469.1_Missense_Mutation_p.A74T NM_001105573.1 NP_001099043.1 P0C2W1 FBSP1_HUMAN F-box protein 45 253 B30.2/SPRY. nervous system development|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus cell junction|postsynaptic membrane|presynaptic membrane protein binding cervix(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 7 all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;2.75e-23)|all cancers(36;2.47e-21)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00314) CCTGGGGGTTGCTTTTAGAGG 0.418000 73 278 0 0 0.870114 0 0 PCDHGA1 0 broad.mit.edu 37 5 140710552 140710552 + Missense_Mutation SNP C C T TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr5:140710552C>T ENST00000517417.1 + 1 301 c.301C>T c.(301-303)Ccg>Tcg p.P101S PCDHGA1_ENST00000378105.3_Missense_Mutation_p.P101S NM_018912.2 NP_061735.1 breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCAGAGCATGCCGTGTCTCGT 0.468000 7 1179 0 0 0.184627 0 0 RNF43 54894 broad.mit.edu 37 17 56440741 56440741 + Nonsense_Mutation SNP C C T TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr17:56440741C>T ENST00000584437.1 - 4 2432 c.477G>A c.(475-477)tgG>tgA p.W159* RNF43_ENST00000577625.1_Nonsense_Mutation_p.W32*|RNF43_ENST00000577716.1_Nonsense_Mutation_p.W159*|RNF43_ENST00000583753.1_Nonsense_Mutation_p.W118*|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Nonsense_Mutation_p.W32*|RNF43_ENST00000500597.2_Nonsense_Mutation_p.W118*|RNF43_ENST00000407977.2_Nonsense_Mutation_p.W159* Q68DV7 RNF43_HUMAN ring finger protein 43 159 endoplasmic reticulum membrane|integral to membrane|nuclear envelope ligase activity|protein binding|zinc ion binding NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4) 60 Medulloblastoma(34;0.127)|all_neural(34;0.237) ACACCACTGGCCAGGTCAGCC 0.577000 7 708 0 0 0.335167 0 0 ZAN 7455 broad.mit.edu 37 7 100350592 100350592 + RNA SNP T T C rs112032841 TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr7:100350592T>C ENST00000542585.1 + 0 3012 ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) CCAGAAAAACTCACCATCCCC 0.512000 26 1289 0 0 0.624587 0 0 ESAM 90952 broad.mit.edu 37 11 124626110 124626110 + Silent SNP T T C TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr11:124626110T>C ENST00000278927.5 - 4 729 c.600A>G c.(598-600)ccA>ccG p.P200P ESAM_ENST00000442070.2_Intron NM_138961.2 NP_620411.2 Q96AP7 ESAM_HUMAN endothelial cell adhesion molecule 200 Ig-like C2-type. blood coagulation|leukocyte migration adherens junction|integral to membrane|tight junction endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022) CACCTAATGCTGGTGCAAAGA 0.562000 53 162 0 0 0.870114 0 0 MUC21 394263 broad.mit.edu 37 6 30954534 30954534 + Silent SNP T T A rs140790308 by1000genomes TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr6:30954534T>A ENST00000376296.3 + 2 823 c.582T>A c.(580-582)acT>acA p.T194T MUC21_ENST00000486149.2_5'UTR NM_001010909.2 NP_001010909.2 Q5SSG8 MUC21_HUMAN mucin 21, cell surface associated 194 28 X 15 AA approximate tandem repeats.|Ser-rich. integral to membrane|plasma membrane p.T194T(1) NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 GGGCCAGCACTGCCACCAACT 0.612000 18 1747 0 0 0.557998 0 0 UBC 7316 broad.mit.edu 37 12 125397415 125397415 + Silent SNP G G A TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr12:125397415G>A ENST00000536769.1 - 1 2479 c.903C>T c.(901-903)ctC>ctT p.L301L UBC_ENST00000546120.1_Silent_p.L225L|UBC_ENST00000538617.1_Intron|UBC_ENST00000339647.5_Silent_p.L301L P0CG48 UBC_HUMAN ubiquitin C 301 Ubiquitin-like 4. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) TCCCACCTCTGAGACGGAGCA 0.532000 10 838 0 0 0.457914 0 0 AQP7 364 broad.mit.edu 37 9 33385614 33385614 + Missense_Mutation SNP A A T rs140995428 by1000genomes TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr9:33385614A>T ENST00000541274.1 - 5 830 c.381T>A c.(379-381)agT>agA p.S127R AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000377425.4_Intron O14520 AQP7_HUMAN aquaporin 7 0 excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) CCACAGAAAAACTCAAAGGAA 0.632000 13 553 0 0 0.520397 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178552067 178552067 + Silent SNP G G A TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr5:178552067G>A ENST00000251582.7 - 19 2966 c.2865C>T c.(2863-2865)caC>caT p.H955H NM_014244.4 NP_055059.2 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 2 955 TSP type-1 3. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) AGTGCTTGGCGTGCACGGAGC 0.692000 7 1062 0 0 0.248553 0 0 SLC5A1 6523 broad.mit.edu 37 22 32464533 32464533 + Silent SNP C C A TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr22:32464533C>A ENST00000266088.4 + 5 673 c.423C>A c.(421-423)atC>atA p.I141I SLC5A1_ENST00000543737.1_Silent_p.I14I NM_000343.3 NP_000334.1 P13866 SC5A1_HUMAN solute carrier family 5 (sodium/glucose cotransporter), member 1 141 carbohydrate metabolic process integral to plasma membrane glucose:sodium symporter activity|protein binding NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1) 37 GCCAGCGGATCCAGGTCTACC 0.602000 88 373 7.30236e-35 8.01062e-35 0.870114 1 0 SH3GL1 6455 broad.mit.edu 37 19 4364084 4364084 + Splice_Site SNP C C T TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr19:4364084C>T ENST00000269886.3 - 5 644 c.e5+1 SH3GL1_ENST00000598564.1_Splice_Site|AC007292.6_ENST00000594444.1_RNA|SH3GL1_ENST00000417295.2_Splice_Site NM_003025.3 NP_003016.1 Q99961 SH3G1_HUMAN SH3-domain GRB2-like 1 central nervous system development|endocytosis|signal transduction early endosome membrane lipid binding|protein binding NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182) AGGAGCAGCACCTGGATCTCC 0.647000 T MLL AL 45 176 0 0 0.870114 0 0 TAAR9 134860 broad.mit.edu 37 6 132859638 132859638 + RNA SNP G G C TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr6:132859638G>C ENST00000434551.1 + 0 210 NM_175057.3 NP_778227.3 Q96RI9 TAAR9_HUMAN trace amine associated receptor 9 (gene/pseudogene) plasma membrane G-protein coupled receptor activity Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816) CAAACTTTCTGATTGCGTCGC 0.512000 75 238 0 0 0.870114 0 0 RSBN1 54665 broad.mit.edu 37 1 114340098 114340098 + Missense_Mutation SNP G G C TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr1:114340098G>C ENST00000261441.5 - 2 1327 c.1264C>G c.(1264-1266)Ctc>Gtc p.L422V NM_018364.3 NP_060834.2 Q5VWQ0 RSBN1_HUMAN round spermatid basic protein 1 422 nucleus breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2) 29 Lung SC(450;0.184) all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) AAGTCTGGGAGATAAGCAGCC 0.393000 46 258 0 0 0.870114 0 0 PITPNM2 57605 broad.mit.edu 37 12 123481963 123481963 + Missense_Mutation SNP G G A TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr12:123481963G>A ENST00000280562.5 - 10 1586 c.1381C>T c.(1381-1383)Cgc>Tgc p.R461C PITPNM2_ENST00000392428.1_Missense_Mutation_p.R182C|PITPNM2_ENST00000542749.1_Missense_Mutation_p.R461C|PITPNM2_ENST00000320201.4_Missense_Mutation_p.R461C Q9BZ72 PITM2_HUMAN phosphatidylinositol transfer protein, membrane-associated 2 461 metabolic process|transport endomembrane system|integral to membrane|intracellular membrane-bounded organelle calcium ion binding|lipid binding NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 39 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123) TAGTGCACGCGCATGACGGTG 0.677000 6 779 0 0 0.217242 0 0 MBTPS1 8720 broad.mit.edu 37 16 84120998 84120998 + Missense_Mutation SNP T T C TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr16:84120998T>C ENST00000343411.3 - 9 1594 c.1099A>G c.(1099-1101)Atc>Gtc p.I367V MBTPS1_ENST00000569770.1_5'UTR NM_003791.2 NP_003782.1 Q14703 MBTP1_HUMAN membrane-bound transcription factor peptidase, site 1 367 Serine protease. cholesterol metabolic process|proteolysis endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 AAGCGGGCGATGTTATCTTCA 0.408000 93 360 0 0 0.870114 0 0 RIN2 54453 broad.mit.edu 37 20 19981313 19981313 + Silent SNP C C G TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr20:19981313C>G ENST00000255006.6 + 12 2717 c.2568C>G c.(2566-2568)ctC>ctG p.L856L RIN2_ENST00000440354.2_Silent_p.L374L|RIN2_ENST00000484638.1_3'UTR NM_001242581.1|NM_018993.3 NP_001229510.1|NP_061866.1 Q8WYP3 RIN2_HUMAN Ras and Rab interactor 2 807 Ras-associating. endocytosis|small GTPase mediated signal transduction cytoplasm GTPase activator activity|Rab guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 27 GAAAGACCCTCCTTGTGAGAC 0.498000 134 674 0 0 0.870114 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 22 334 0 0 0.639603 0 0 RNPEP 6051 broad.mit.edu 37 1 201966564 201966564 + Silent SNP C C T TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr1:201966564C>T ENST00000295640.4 + 5 1015 c.972C>T c.(970-972)atC>atT p.I324I RNPEP_ENST00000367286.3_Silent_p.I285I|RNPEP_ENST00000471105.1_3'UTR NM_020216.3 NP_064601.3 Q9H4A4 AMPB_HUMAN arginyl aminopeptidase (aminopeptidase B) 324 leukotriene biosynthetic process epoxide hydrolase activity|zinc ion binding breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005) ATGTCATCATCCATGAGATCT 0.547000 109 500 0 0 0.870114 0 0 GLCE 26035 broad.mit.edu 37 15 69553486 69553486 + Missense_Mutation SNP A A C TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr15:69553486A>C ENST00000261858.2 + 4 875 c.647A>C c.(646-648)cAg>cCg p.Q216P GLCE_ENST00000559420.2_Missense_Mutation_p.Q152P|GLCE_ENST00000559500.1_3'UTR NM_015554.1 NP_056369.1 O94923 GLCE_HUMAN glucuronic acid epimerase 216 heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process Golgi membrane|integral to membrane UDP-glucuronate 5'-epimerase activity NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 18 CAGATTGCACAGTATGGATTA 0.373000 114 349 0 0 0.870114 0 0 ST3GAL2 6483 broad.mit.edu 37 16 70415640 70415640 + Missense_Mutation SNP G G C TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr16:70415640G>C ENST00000393640.4 - 6 3112 c.1005C>G c.(1003-1005)atC>atG p.I335M RP11-529K1.4_ENST00000566960.1_RNA|ST3GAL2_ENST00000342907.2_Missense_Mutation_p.I335M Q16842 SIA4B_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 2 335 amino sugar metabolic process extracellular region|Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,3-sialyltransferase activity breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1) 11 Ovarian(137;0.0694) CCAGCATGTCGATGATGTGGG 0.667000 137 260 0 0 0.870114 0 0 MRPS2 51116 broad.mit.edu 37 9 138393703 138393703 + Missense_Mutation SNP G G C TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr9:138393703G>C ENST00000371785.1 + 4 392 c.183G>C c.(181-183)aaG>aaC p.K61N MRPS2_ENST00000488610.1_3'UTR|MRPS2_ENST00000241600.5_Missense_Mutation_p.K61N Q9Y399 RT02_HUMAN mitochondrial ribosomal protein S2 61 translation mitochondrion|small ribosomal subunit structural constituent of ribosome large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1) 6 OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42) TCAACGACAAGATTTTGAATG 0.572000 113 488 0 0 0.870114 0 0 LDB1 8861 broad.mit.edu 37 10 103867976 103867976 + Silent SNP G G A TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr10:103867976G>A ENST00000361198.5 - 11 1625 c.1002C>T c.(1000-1002)aaC>aaT p.N334N LDB1_ENST00000425280.1_Silent_p.N370N NM_003893.4 NP_003884.1 Q86U70 LDB1_HUMAN LIM domain binding 1 370 histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery nuclear chromatin|protein complex LIM domain binding|protein homodimerization activity|transcription corepressor activity breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1) 21 Colorectal(252;0.122) Epithelial(162;1.11e-07)|all cancers(201;1.82e-06) CGTCAATGCCGTTGGCTGCGT 0.617000 6 675 0 0 0.217242 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 11 301 0 0 0.387290 0 0 AQP7 364 broad.mit.edu 37 9 33385585 33385585 + Missense_Mutation SNP C C A TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr9:33385585C>A ENST00000541274.1 - 5 859 c.410G>T c.(409-411)gGg>gTg p.G137V AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000377425.4_Intron O14520 AQP7_HUMAN aquaporin 7 0 excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) CACCCCCCACCCCTCAACACA 0.602000 5 354 3.09899e-07 3.32179e-07 0.307466 1 0 CD163L1 283316 broad.mit.edu 37 12 7531847 7531847 + Missense_Mutation SNP C C A TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr12:7531847C>A ENST00000313599.3 - 9 2155 c.2098G>T c.(2098-2100)Gct>Tct p.A700S CD163L1_ENST00000416109.2_Missense_Mutation_p.A710S|CD163L1_ENST00000544331.1_5'UTR|CD163L1_ENST00000396630.1_Missense_Mutation_p.A700S Q9NR16 C163B_HUMAN CD163 molecule-like 1 700 SRCR 7. extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 ACTTTTCCAGCACACCTGCTG 0.463000 8 286 1.12685e-05 1.18845e-05 0.307466 1 0 EFS 0 broad.mit.edu 37 14 23828670 23828670 + Silent SNP T T G TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr14:23828670T>G ENST00000216733.3 - 4 1624 c.1017A>C c.(1015-1017)ccA>ccC p.P339P EFS_ENST00000351354.3_Silent_p.P246P|EFS_ENST00000429593.2_Silent_p.P170P NM_005864.2 NP_005855.1 O43281 EFS_HUMAN embryonal Fyn-associated substrate 339 Pro-rich. cell adhesion|intracellular signal transduction cytoplasm SH3 domain binding endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2) 16 all_cancers(95;7.12e-06) GBM - Glioblastoma multiforme(265;0.00649) GGGGTGGGGGTGGGGGCAGAG 0.697000 30 220 0 0 0.870114 0 0 MUC7 4589 broad.mit.edu 37 4 71346978 71346978 + Missense_Mutation SNP T T C TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr4:71346978T>C ENST00000413702.1 + 4 805 c.517T>C c.(517-519)Tct>Cct p.S173P MUC7_ENST00000456088.1_Missense_Mutation_p.S173P|MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000304887.5_Missense_Mutation_p.S173P NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 173 Thr-rich. extracellular region protein binding p.S173P(3) central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) ACCCACACCTTCTGCAACTAC 0.522000 14 1168 0 0 0.387290 0 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296167 39296167 + Silent SNP A A G TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr17:39296167A>G ENST00000345847.4 - 1 572 c.573T>C c.(571-573)atT>atC p.I191I NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 187 keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 GGCAGGTGGAAATGACACAGG 0.627000 7 100 0 0 0.278610 0 0 PHF13 148479 broad.mit.edu 37 1 6680069 6680071 + In_Frame_Del DEL GAA GAA - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr1:6680069_6680071delGAA ENST00000377648.4 + 3 730_732 c.348_350delGAA c.(346-351)ctg>ct p.LK116del PHF13_ENST00000495385.1_Intron NM_153812.2 NP_722519.2 Q86YI8 PHF13_HUMAN PHD finger protein 13 116 cell division|chromatin modification|mitotic chromosome condensation nucleoplasm chromatin binding|methylated histone residue binding|zinc ion binding endometrium(3)|large_intestine(1)|lung(3) 7 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642) cggacaagctgaagaagaagaag 0.576 9 608 --- --- --- --- CAMTA1 23261 broad.mit.edu 37 1 7811329 7811329 + Frame_Shift_Del DEL A A - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr1:7811329delA ENST00000303635.7 + 20 4967 c.4760delA c.(4759-4761)cafs p.Q1587fs CAMTA1_ENST00000439411.2_Frame_Shift_Del_p.Q1573fs|CAMTA1_ENST00000476864.1_Frame_Shift_Del_p.Q151fs NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 1587 IQ 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding p.K1589fs*33(1) breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) TACTATGAACAAAAAAAATTC 0.473 T WWTR1 epitheliod hemangioendothelioma 13 1871 --- --- --- --- AADACL3 126767 broad.mit.edu 37 1 12785492 12785493 + Frame_Shift_Ins INS - - T TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 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 1499 --- --- --- --- PADI6 353238 broad.mit.edu 37 1 17721722 17721723 + RNA DEL GA GA - rs58784721 TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr1:17721722_17721723delGA ENST00000434762.2 + 0 1545 Q6TGC4 PADI6_HUMAN peptidyl arginine deiminase, type VI peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) tttgttttttgagagtcttgct 0.485 17 65 --- --- --- --- TCEB3 6924 broad.mit.edu 37 1 24078404 24078404 + Frame_Shift_Del DEL A A - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr1:24078404delA ENST00000418390.2 + 4 1658 c.1387delA c.(1387-1389)aafs p.K464fs NM_003198.2 NP_003189.2 Q14241 ELOA1_HUMAN transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A) 464 positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction integral to membrane DNA binding p.N439fs*19(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 19 Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187) TAAAGGACTTAAAAAAAATGA 0.413 OREG0013232 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 1215 --- --- --- --- EXTL1 2134 broad.mit.edu 37 1 26349533 26349535 + In_Frame_Del DEL CCT CCT - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr1:26349533_26349535delCCT ENST00000374280.3 + 1 1263_1265 c.396_398delCCT c.(394-399)tgc>tg p.CL132del NM_004455.2 NP_004446.2 Q92935 EXTL1_HUMAN exostosin-like glycosyltransferase 1 132 skeletal system development integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1) 23 Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649) CTGGGGCCTGCCTCCTCCTCCTC 0.606 10 420 --- --- --- --- ARID1A 8289 broad.mit.edu 37 1 27057727 27057729 + In_Frame_Del DEL CAG CAG - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr1:27057727_27057729delCAG ENST00000324856.7 + 3 1806_1808 c.1435_1437delCAG c.(1435-1437)del p.Q482del ARID1A_ENST00000374152.2_In_Frame_Del_p.Q99del|ARID1A_ENST00000457599.2_In_Frame_Del_p.Q482del NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 482 Poly-Gln. androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding p.Q479*(2) ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) TCCTCACCCTCAGCAGCAGCAGC 0.557 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 7 2648 --- --- --- --- AHDC1 27245 broad.mit.edu 37 1 27875353 27875355 + In_Frame_Del DEL AGG AGG - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr1:27875353_27875355delAGG ENST00000374011.2 - 6 4240_4242 c.3272_3274delCCT c.(3271-3276)ttc>t p.SF1091del AHDC1_ENST00000247087.5_In_Frame_Del_p.SF1091del|AHDC1_ENST00000482400.2_Intron NM_001029882.2 NP_001025053.1 Q5TGY3 AHDC1_HUMAN AT hook, DNA binding motif, containing 1 1091 DNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291) GAGGGCTGGAaggaggaggagga 0.665 7 305 --- --- --- --- SRSF4 6429 broad.mit.edu 37 1 29475219 29475221 + In_Frame_Del DEL CTT CTT - rs138237342 by1000genomes TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr1:29475219_29475221delCTT ENST00000373795.4 - 6 1420_1422 c.1186_1188delAAG c.(1186-1188)del p.K396del SRSF4_ENST00000466448.1_5'UTR|SRSF4_ENST00000546138.1_3'UTR NM_005626.4 NP_005617.2 Q08170 SRSF4_HUMAN serine/arginine-rich splicing factor 4 396 Arg/Ser-rich (RS domain). mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nuclear speck nucleotide binding|RNA binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1) 27 CAGTGTCTTCCTTCTTCTTCTTC 0.601 20 1005 --- --- --- --- C1orf94 84970 broad.mit.edu 37 1 34666398 34666398 + Frame_Shift_Del DEL A A - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 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 12 751 --- --- --- --- MAP7D1 55700 broad.mit.edu 37 1 36636587 36636587 + Frame_Shift_Del DEL C C - rs145462639 TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr1:36636587delC ENST00000316156.4 + 2 515 c.62delC c.(61-63)acfs p.T21fs MAP7D1_ENST00000373150.4_Frame_Shift_Del_p.T21fs|MAP7D1_ENST00000373151.2_Frame_Shift_Del_p.T21fs Q3KQU3 MA7D1_HUMAN MAP7 domain containing 1 21 Pro-rich. cytoplasm|spindle breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1) 19 Myeloproliferative disorder(586;0.0393) GTCGCCAGGACCCCCCCAGAG 0.612 8 852 --- --- --- --- RSPO1 284654 broad.mit.edu 37 1 38078467 38078469 + In_Frame_Del DEL TGC TGC - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr1:38078467_38078469delTGC ENST00000356545.2 - 8 1537_1539 c.750_752delGCA c.(748-753)caa>ca p.QQ250del RSPO1_ENST00000401070.1_In_Frame_Del_p.QQ187del|RSPO1_ENST00000401069.1_In_Frame_Del_p.QQ250del|RSPO1_ENST00000373059.1_In_Frame_Del_p.QQ223del|RSPO1_ENST00000401071.2_In_Frame_Del_p.QQ187del|RSPO1_ENST00000401068.1_In_Frame_Del_p.QQ250del NM_001038633.3 NP_001033722.1 Q2MKA7 RSPO1_HUMAN R-spondin 1 250 positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization heparin binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5) 12 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CACTGTCCCTTGCTGCTGCTGCT 0.621 7 1045 --- --- --- --- PTPRF 5792 broad.mit.edu 37 1 44071946 44071948 + In_Frame_Del DEL GCG GCG - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr1:44071946_44071948delGCG ENST00000359947.4 + 20 3859_3861 c.3519_3521delGCG c.(3517-3522)cag>ca p.QR1173del PTPRF_ENST00000372413.3_In_Frame_Del_p.QR1164del|PTPRF_ENST00000372414.3_In_Frame_Del_p.QR1173del|PTPRF_ENST00000422171.2_In_Frame_Del_p.QR521del|PTPRF_ENST00000438120.1_In_Frame_Del_p.QR1164del|PTPRF_ENST00000496447.1_3'UTR NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 1173 transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GAGAGGAGCAGCGGCGGCGGCGG 0.631 9 881 --- --- --- --- PTCH2 8643 broad.mit.edu 37 1 45292586 45292586 + Frame_Shift_Del DEL C C - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr1:45292586delC ENST00000447098.2 - 17 2694 c.2683delG c.(2683-2685)agfs p.E895fs PTCH2_ENST00000372192.3_Frame_Shift_Del_p.E895fs NM_001166292.1 NP_001159764.1 Q9Y6C5 PTC2_HUMAN patched 2 895 protein complex assembly|spermatogenesis integral to plasma membrane hedgehog receptor activity NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 50 Acute lymphoblastic leukemia(166;0.155) CGAAGGTTCTCCCCCGTGGTG 0.647 Basal Cell Nevus syndrome 8 2098 --- --- --- --- NDC1 55706 broad.mit.edu 37 1 54298190 54298192 + In_Frame_Del DEL TTA TTA - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr1:54298190_54298192delTTA ENST00000371429.3 - 3 849_851 c.251_253delTAA c.(250-255)agt>a p.IS84del NDC1_ENST00000480952.1_5'UTR|NDC1_ENST00000234725.8_5'UTR|NDC1_ENST00000540001.1_In_Frame_Del_p.IS84del|NDC1_ENST00000537333.1_5'UTR NM_001168551.1|NM_018087.4 NP_001162023.1|NP_060557.3 NDC1 transmembrane nucleoporin TTGAAAATACTTATTATTATTAT 0.305 7 310 --- --- --- --- TNNI3K 51086 broad.mit.edu 37 1 74957824 74957826 + In_Frame_Del DEL CTT CTT - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr1:74957824_74957826delCTT ENST00000370891.2 + 25 2544_2546 c.2528_2530delCTT c.(2527-2532)cct>c p.PS843del TNNI3K_ENST00000326637.3_In_Frame_Del_p.PS742del|FPGT-TNNI3K_ENST00000557284.1_In_Frame_Del_p.PS843del|LRRC53_ENST00000294635.4_Intron NM_001112808.2 NP_001106279.1 TNNI3 interacting kinase cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 76 TCTCTCTCACCTTCTTCTTCTTC 0.473 9 1367 --- --- --- --- ST6GALNAC5 81849 broad.mit.edu 37 1 77334277 77334279 + In_Frame_Del DEL GCA GCA - rs113832855 TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr1:77334277_77334279delGCA ENST00000477717.1 + 2 346_348 c.111_113delGCA c.(109-114)ccg>cc p.PQ37del ST6GALNAC5_ENST00000496845.1_3'UTR NM_030965.1 NP_112227.1 Q9BVH7 SIA7E_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 37 protein glycosylation integral to Golgi membrane sialyltransferase activity endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1) 18 AGCGGCCCCCgcagcagcagcag 0.700 11 192 --- --- --- --- KCNA3 3738 broad.mit.edu 37 1 111216794 111216795 + Frame_Shift_Ins INS - - G TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr1:111216794_111216795insG ENST00000369769.2 - 1 860_861 c.637_638insC c.(637-639)ccgfs p.P213fs NM_002232.3 NP_002223.3 P22001 KCNA3_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 3 213 voltage-gated potassium channel complex delayed rectifier potassium channel activity endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1) 38 all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133) GAAGTCGCGGCGGGGCAAGGGC 0.678 7 759 --- --- --- --- TRIM33 51592 broad.mit.edu 37 1 114968116 114968118 + In_Frame_Del DEL TGT TGT - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr1:114968116_114968118delTGT ENST00000358465.2 - 9 1731_1733 c.1648_1650delACA c.(1648-1650)del p.T550del TRIM33_ENST00000369543.2_In_Frame_Del_p.T550del|TRIM33_ENST00000450349.2_In_Frame_Del_p.T158del NM_015906.3 NP_056990.3 Q9UPN9 TRI33_HUMAN tripartite motif containing 33 550 Poly-Thr. negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent nucleus co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 48 all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184) all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GATGCTGTTGTGTTGTTGTTGTT 0.429 T RET papillary thyroid 10 1663 --- --- --- --- NGF 4803 broad.mit.edu 37 1 115828721 115828722 + Frame_Shift_Del DEL CA CA - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr1:115828721_115828722delCA ENST00000369512.2 - 3 863_864 c.695_696delTG c.(694-696)gfs p.V232fs RP4-663N10.1_ENST00000425449.1_RNA NM_002506.2 NP_002497.2 P01138 NGF_HUMAN nerve growth factor (beta polypeptide) 232 activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|Golgi lumen growth factor activity|nerve growth factor receptor binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 13 Lung SC(450;0.211) all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179) Clenbuterol(DB01407) TCCTGCTGAGCACACACACACA 0.579 8 602 --- --- --- --- ADAM30 11085 broad.mit.edu 37 1 120436591 120436591 + Frame_Shift_Del DEL T T - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr1:120436591delT ENST00000369400.1 - 1 2527 c.2369delA c.(2368-2370)agfs p.K790fs NM_021794.3 NP_068566.2 Q9UKF2 ADA30_HUMAN ADAM metallopeptidase domain 30 790 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2) 38 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138) Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117) GCCCGGTTACTTTTTTTGTTT 0.358 10 1654 --- --- --- --- RP11-343N15.1 0 broad.mit.edu 37 1 121116645 121116645 + RNA DEL T T - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr1:121116645delT ENST00000437515.1 - 0 329 CAAGCCCCCCTTTAAAAAAAA 0.393 34 383 --- --- --- --- SRGAP2B 0 broad.mit.edu 37 1 144043905 144043906 + RNA INS - - G TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr1:144043905_144043906insG ENST00000467933.1 + 0 1108 tcgctcacgctggagctgtaga 0.535 14 100 --- --- --- --- PDE4DIP 9659 broad.mit.edu 37 1 144863324 144863324 + Frame_Shift_Del DEL G G - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr1:144863324delG ENST00000369359.4 - 40 6525 c.6487delC c.(6487-6489)tgfs p.L2163fs PDE4DIP_ENST00000530740.1_Frame_Shift_Del_p.L2112fs|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000313382.9_Frame_Shift_Del_p.L1921fs|PDE4DIP_ENST00000369354.3_Frame_Shift_Del_p.L2027fs|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Frame_Shift_Del_p.L2027fs Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 2027 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) ATACCTTTCAGCCCCTTCTTG 0.488 T PDGFRB MPD 11 1282 --- --- --- --- ITGA10 8515 broad.mit.edu 37 1 145534122 145534122 + Frame_Shift_Del DEL C C - rs147270843 TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr1:145534122delC ENST00000369304.3 + 14 1802 c.1627delC c.(1627-1629)ccfs p.P544fs ITGA10_ENST00000538811.1_Frame_Shift_Del_p.P413fs|ITGA10_ENST00000539363.1_Frame_Shift_Del_p.P401fs NM_003637.3 NP_003628.2 O75578 ITA10_HUMAN integrin, alpha 10 544 cell-matrix adhesion|integrin-mediated signaling pathway integrin complex collagen binding|receptor activity NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TCAGCCAGAACCCCCCCAGGA 0.552 7 1214 --- --- --- --- SELENBP1 8991 broad.mit.edu 37 1 151338281 151338281 + Frame_Shift_Del DEL G G - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr1:151338281delG ENST00000426705.2 - 8 1155 c.1011delC c.(1009-1011)ccfs p.P337fs SELENBP1_ENST00000435071.1_Frame_Shift_Del_p.P231fs|SELENBP1_ENST00000447402.3_Frame_Shift_Del_p.P233fs|SELENBP1_ENST00000368868.5_Frame_Shift_Del_p.P295fs NM_001258289.1 NP_001245218.1 Q13228 SBP1_HUMAN selenium binding protein 1 295 protein transport cytosol|membrane|nucleolus protein binding|selenium binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1) 20 Lung SC(34;0.00471)|Ovarian(49;0.00871)|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) TCACTTTCTTGGGGGGCACCT 0.547 9 1319 --- --- --- --- FLG 2312 broad.mit.edu 37 1 152286884 152286885 + Frame_Shift_Ins INS - - T TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr1:152286884_152286885insT ENST00000368799.1 - 3 512_513 c.477_478insA c.(475-480)aaaaagfs p.KK159fs FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 159 keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCTTTTCTTTCTTTTTTTTCAG 0.342 Ichthyosis 7 660 --- --- --- --- INTS3 65123 broad.mit.edu 37 1 153745516 153745516 + Frame_Shift_Del DEL C C - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr1:153745516delC ENST00000456435.1 + 28 3776 c.2590delC c.(2590-2592)ccfs p.P865fs INTS3_ENST00000512605.1_Frame_Shift_Del_p.P865fs|INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000318967.2_Frame_Shift_Del_p.P1005fs|INTS3_ENST00000435409.2_Frame_Shift_Del_p.P1005fs Q68E01 INT3_HUMAN integrator complex subunit 3 1006 DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing integrator complex|SOSS complex protein binding breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) TGCCACACAGCCCCCCAATGC 0.607 7 1576 --- --- --- --- ASH1L 55870 broad.mit.edu 37 1 155448996 155448996 + Frame_Shift_Del DEL T T - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr1:155448996delT ENST00000368346.3 - 3 4304 c.3665delA c.(3664-3666)agfs p.K1222fs ASH1L_ENST00000392403.3_Frame_Shift_Del_p.K1222fs Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 1222 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) ATGCCTCCTCTTTTTTTGCCC 0.413 8 1102 --- --- --- --- BCAN 63827 broad.mit.edu 37 1 156626160 156626160 + Frame_Shift_Del DEL G G - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr1:156626160delG ENST00000329117.4 + 9 2365 c.2029delG c.(2029-2031)ggfs p.G678fs RP11-284F21.7_ENST00000448869.1_RNA NM_021948.4 NP_068767.3 Q96GW7 PGCB_HUMAN brevican 678 EGF-like. cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 55 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GCCTGGCTATGGGGGGGACCT 0.622 7 999 --- --- --- --- OR10Z1 128368 broad.mit.edu 37 1 158576487 158576487 + Frame_Shift_Del DEL G G - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr1:158576487delG ENST00000361284.1 + 1 259 c.259delG c.(259-261)ggfs p.G88fs NM_001004478.1 NP_001004478.1 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, member 1 88 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4) 37 all_hematologic(112;0.0378) TGGCCTGGCTGGGGGGGACCA 0.552 9 1706 --- --- --- --- NR1I3 0 broad.mit.edu 37 1 161202999 161203000 + Frame_Shift_Ins INS - - G rs139473535 by1000genomes TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr1:161202999_161203000insG ENST00000367983.4 - 4 661_662 c.367_368insC c.(367-369)ccafs p.P123fs NR1I3_ENST00000442691.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000505005.1_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000367981.3_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000504010.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000367984.4_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000515621.1_Frame_Shift_Ins_p.P48fs|NR1I3_ENST00000515452.1_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000506209.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000512372.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000511676.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000508740.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000367982.4_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000428574.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000511944.1_Intron|NR1I3_ENST00000412844.2_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000502985.1_Intron|NR1I3_ENST00000437437.2_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000367985.3_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000367980.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000367979.2_Frame_Shift_Ins_p.P123fs Q14994 NR1I3_HUMAN nuclear receptor subfamily 1, group I, member 3 123 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1) 15 all_cancers(52;1.86e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) GCCCATGTGGCGGGTGTGGGCC 0.564 22 1519 --- --- --- --- NOS1AP 9722 broad.mit.edu 37 1 162326888 162326890 + In_Frame_Del DEL CAG CAG - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr1:162326888_162326890delCAG ENST00000361897.5 + 8 1303_1305 c.901_903delCAG c.(901-903)del p.Q306del NOS1AP_ENST00000530878.1_In_Frame_Del_p.Q301del NM_001164757.1|NM_014697.2 NP_001158229.1|NP_055512.1 O75052 CAPON_HUMAN nitric oxide synthase 1 (neuronal) adaptor protein 306 Poly-Gln. regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity nitric-oxide synthase binding|PDZ domain binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2) 32 all_hematologic(112;0.203) BRCA - Breast invasive adenocarcinoma(70;0.0537) gcagctcctccagcagcAGCAGC 0.611 16 473 --- --- --- --- LMX1A 4009 broad.mit.edu 37 1 165177332 165177334 + In_Frame_Del DEL TGC TGC - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr1:165177332_165177334delTGC ENST00000342310.3 - 7 1165_1167 c.783_785delGCA c.(781-786)caa>ca p.QQ261del LMX1A_ENST00000489443.2_5'UTR|LMX1A_ENST00000294816.2_In_Frame_Del_p.QQ261del|LMX1A_ENST00000367893.4_In_Frame_Del_p.QQ261del NM_177398.3 NP_796372.1 Q8TE12 LMX1A_HUMAN LIM homeobox transcription factor 1, alpha 261 Gln-rich.|Poly-Gln. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4) 35 all_hematologic(923;0.248) CTGCTGATCTTGCTGCTGCTGCT 0.567 7 308 --- --- --- --- ABL2 27 broad.mit.edu 37 1 179078404 179078404 + Frame_Shift_Del DEL G G - rs138240636 byFrequency TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr1:179078404delG ENST00000502732.1 - 12 2201 c.1998delC c.(1996-1998)ccfs p.P666fs ABL2_ENST00000511413.1_Frame_Shift_Del_p.P666fs|ABL2_ENST00000504405.1_Frame_Shift_Del_p.P630fs|ABL2_ENST00000344730.3_Frame_Shift_Del_p.P651fs|ABL2_ENST00000367623.4_Frame_Shift_Del_p.P645fs|ABL2_ENST00000512653.1_Frame_Shift_Del_p.P651fs|ABL2_ENST00000507173.1_Frame_Shift_Del_p.P645fs|ABL2_ENST00000408940.3_Frame_Shift_Del_p.P630fs NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3 NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1 P42684 ABL2_HUMAN c-abl oncogene 2, non-receptor tyrosine kinase 666 axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction cytoskeleton|cytosol ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 65 Adenosine triphosphate(DB00171)|Dasatinib(DB01254) TGCTGCGTTTGGGGGGTGTAG 0.502 T ETV6 AML 9 2154 --- --- --- --- APOBEC4 403314 broad.mit.edu 37 1 183616826 183616828 + In_Frame_Del DEL TTC TTC - rs141411396 TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr1:183616826_183616828delTTC ENST00000308641.4 - 2 1360_1362 c.1089_1091delGAA c.(1087-1092)aaa>aa p.KK363del APOBEC4_ENST00000481562.1_5'UTR|RGL1_ENST00000536277.1_Intron|RGL1_ENST00000367531.1_Intron|RGL1_ENST00000304685.3_Intron NM_203454.2 NP_982279.1 Q8WW27 ABEC4_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative) 363 mRNA processing hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1) 21 TTTCTTCCCTTTCTTCTTCTTCT 0.419 7 1003 --- --- --- --- PRG4 10216 broad.mit.edu 37 1 186275999 186276001 + In_Frame_Del DEL CCA CCA - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr1:186275999_186276001delCCA ENST00000445192.2 + 7 1193_1195 c.1148_1150delCCA c.(1147-1152)ccc>c p.PT383del PRG4_ENST00000367485.4_In_Frame_Del_p.PT290del|PRG4_ENST00000367486.3_In_Frame_Del_p.PT340del|PRG4_ENST00000367484.3_In_Frame_Del_p.PT342del|PRG4_ENST00000367483.4_In_Frame_Del_p.PT342del NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 383 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 GAGCCTGCACCCACCACCACCAA 0.645 7 1464 --- --- --- --- GPR25 2848 broad.mit.edu 37 1 200842776 200842778 + In_Frame_Del DEL TGC TGC - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr1:200842776_200842778delTGC ENST00000304244.2 + 1 694_696 c.611_613delTGC c.(610-615)ttg>t p.LL208del NM_005298.2 NP_005289.2 O00155 GPR25_HUMAN G protein-coupled receptor 25 208 Poly-Leu. integral to plasma membrane large_intestine(1)|lung(2)|ovary(1)|skin(1) 5 GGCCTCAGCTTGCTGCTGCTGCT 0.724 7 211 --- --- --- --- IPO9 55705 broad.mit.edu 37 1 201843998 201844000 + In_Frame_Del DEL GAG GAG - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 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 10 634 --- --- --- --- GPR37L1 9283 broad.mit.edu 37 1 202097525 202097527 + In_Frame_Del DEL CTG CTG - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 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 8 215 --- --- --- --- DYRK3 8444 broad.mit.edu 37 1 206821441 206821441 + Frame_Shift_Del DEL A A - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr1:206821441delA ENST00000367106.1 + 4 1311 c.838delA c.(838-840)aafs p.K281fs DYRK3_ENST00000367109.2_Frame_Shift_Del_p.K301fs|DYRK3_ENST00000367108.3_Frame_Shift_Del_p.K281fs|DYRK3_ENST00000489878.1_Intron O43781 DYRK3_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3 301 Protein kinase. erythrocyte differentiation nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2) 25 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.166) TGAGCTGATTAAAAAAAATAA 0.403 8 953 --- --- --- --- ATP6V1C2 245973 broad.mit.edu 37 2 10917819 10917820 + Frame_Shift_Del DEL AG AG - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr2:10917819_10917820delAG ENST00000272238.4 + 11 1043_1044 c.934_935delAG c.(934-936)afs p.R312fs ATP6V1C2_ENST00000381661.3_Intron NM_001039362.1 NP_001034451.1 Q8NEY4 VATC2_HUMAN ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 312 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|proton-transporting V-type ATPase, V1 domain endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152) GCAGACCGACAGAGAGAGAGAG 0.604 16 730 --- --- --- --- SMC6 79677 broad.mit.edu 37 2 17898126 17898126 + Frame_Shift_Del DEL T T - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr2:17898126delT ENST00000448223.2 - 14 1497 c.1228delA c.(1228-1230)tafs p.I410fs SMC6_ENST00000351948.4_Frame_Shift_Del_p.I410fs|SMC6_ENST00000402989.1_Frame_Shift_Del_p.I410fs|SMC6_ENST00000381272.4_Frame_Shift_Del_p.I436fs NM_001142286.1 NP_001135758.1 Q96SB8 SMC6_HUMAN structural maintenance of chromosomes 6 410 DNA recombination|DNA repair chromosome|nucleus ATP binding NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 43 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) AACCAAGATATTTTTTTTTGT 0.343 12 237 --- --- --- --- ITSN2 50618 broad.mit.edu 37 2 24533400 24533401 + Frame_Shift_Ins INS - - G rs138525854 by1000genomes TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr2:24533400_24533401insG ENST00000355123.4 - 6 956_957 c.513_514insC c.(511-516)acccagfs p.Q172fs ITSN2_ENST00000406921.3_Frame_Shift_Ins_p.Q172fs|ITSN2_ENST00000361999.3_Frame_Shift_Ins_p.Q172fs NM_006277.2 NP_006268.2 Q9NZM3 ITSN2_HUMAN intersectin 2 172 endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1) 61 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ATGAGACTGGCGGTTCCATTTG 0.411 8 723 --- --- --- --- OTOF 9381 broad.mit.edu 37 2 26693554 26693556 + In_Frame_Del DEL CTT CTT - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr2:26693554_26693556delCTT ENST00000272371.2 - 32 4054_4056 c.3928_3930delAAG c.(3928-3930)del p.K1310del OTOF_ENST00000338581.6_In_Frame_Del_p.K543del|OTOF_ENST00000402415.3_In_Frame_Del_p.K620del|OTOF_ENST00000339598.3_In_Frame_Del_p.K543del|OTOF_ENST00000403946.3_In_Frame_Del_p.K1310del NM_194248.2 NP_919224.1 Q9HC10 OTOF_HUMAN otoferlin 1310 Poly-Lys. cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCGCAGTGCCcttcttcttcttc 0.576 7 616 --- --- --- --- BRE 9577 broad.mit.edu 37 2 28521301 28521301 + Frame_Shift_Del DEL A A - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr2:28521301delA ENST00000344773.2 + 11 1169 c.1031delA c.(1030-1032)cafs p.Q344fs BRE_ENST00000379632.2_Frame_Shift_Del_p.Q344fs|BRE_ENST00000379624.1_Frame_Shift_Del_p.Q344fs|BRE_ENST00000361704.2_Frame_Shift_Del_p.Q344fs|BRE_ENST00000342045.2_Frame_Shift_Del_p.Q344fs NM_004899.4 NP_004890.2 Q9NXR7 BRE_HUMAN brain and reproductive organ-expressed (TNFRSF1A modulator) 344 UEV-like 2. apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2) 23 Acute lymphoblastic leukemia(172;0.155) TCCCAGGCCCAAAAAAATTAT 0.448 7 926 --- --- --- --- C2orf71 388939 broad.mit.edu 37 2 29295647 29295649 + In_Frame_Del DEL TCC TCC - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr2:29295647_29295649delTCC ENST00000331664.5 - 1 1478_1480 c.1479_1481delGGA c.(1477-1482)gaa>ga p.EE493del NM_001029883.2 NP_001025054.1 A6NGG8 CB071_HUMAN chromosome 2 open reading frame 71 493 response to stimulus|visual perception photoreceptor outer segment NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1) 60 CATTTTGTCTTCCTCCTCCTCCT 0.542 11 1071 --- --- --- --- RMDN2 151393 broad.mit.edu 37 2 38178783 38178783 + Frame_Shift_Del DEL T T - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr2:38178783delT ENST00000407257.1 + 2 572 c.425delT c.(424-426)atfs p.I142fs RMDN2_ENST00000417700.2_Intron|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000406384.1_Intron|RMDN2_ENST00000402091.3_Frame_Shift_Del_p.I142fs|RMDN2_ENST00000354545.2_Intron|RMDN2_ENST00000234195.3_Frame_Shift_Del_p.I142fs regulator of microtubule dynamics 2 AAGAGTGCCATTTTTTTTGAT 0.333 8 489 --- --- --- --- LHCGR 3973 broad.mit.edu 37 2 48915172 48915172 + Frame_Shift_Del DEL A A - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr2:48915172delA ENST00000294954.7 - 11 1785 c.1764delT c.(1762-1764)ttfs p.F588fs LHCGR_ENST00000401907.1_3'UTR|LHCGR_ENST00000405626.1_Frame_Shift_Del_p.F561fs|LHCGR_ENST00000344775.3_Frame_Shift_Del_p.F526fs|LHCGR_ENST00000403273.1_3'UTR|STON1-GTF2A1L_ENST00000402114.2_Intron NM_000233.3 NP_000224.2 P22888 LSHR_HUMAN luteinizing hormone/choriogonadotropin receptor 588 male genitalia development|male gonad development endosome|integral to plasma membrane luteinizing hormone receptor activity NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 56 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032) CTGAGATGGCAAAAAAAGAGA 0.383 8 646 --- --- --- --- USP34 9736 broad.mit.edu 37 2 61575023 61575025 + In_Frame_Del DEL TGG TGG - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr2:61575023_61575025delTGG ENST00000398571.2 - 15 2341_2343 c.2265_2267delCCA c.(2263-2268)cat>ca p.HH759del NM_014709.3 NP_055524.3 Q70CQ2 UBP34_HUMAN ubiquitin specific peptidase 34 759 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) gtggtggtgatggtggtggtggt 0.389 7 478 --- --- --- --- ATP6V1B1 525 broad.mit.edu 37 2 71191573 71191573 + Frame_Shift_Del DEL C C - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr2:71191573delC ENST00000234396.4 + 12 1222 c.1149delC c.(1147-1149)tafs p.Y383fs ATP6V1B1_ENST00000412314.1_Frame_Shift_Del_p.Y366fs|AC007040.11_ENST00000606025.1_Intron NM_001692.3 NP_001683.2 P15313 VATB1_HUMAN ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 383 ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1) 19 CTCAGATCTACCCCCCCATCA 0.547 OREG0014686 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 529 --- --- --- --- DYSF 8291 broad.mit.edu 37 2 71801420 71801422 + In_Frame_Del DEL CCG CCG - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr2:71801420_71801422delCCG ENST00000258104.3 + 30 3544_3546 c.3267_3269delCCG c.(3265-3270)ttc>tt p.FR1089del DYSF_ENST00000409744.1_In_Frame_Del_p.FR1076del|DYSF_ENST00000429174.2_In_Frame_Del_p.FR1089del|DYSF_ENST00000409366.1_In_Frame_Del_p.FR1090del|DYSF_ENST00000410041.1_In_Frame_Del_p.FR1107del|DYSF_ENST00000413539.2_In_Frame_Del_p.FR1120del|DYSF_ENST00000409762.1_In_Frame_Del_p.FR1106del|DYSF_ENST00000410020.3_In_Frame_Del_p.FR1107del|DYSF_ENST00000409651.1_In_Frame_Del_p.FR1121del|DYSF_ENST00000394120.2_In_Frame_Del_p.FR1090del|DYSF_ENST00000409582.3_In_Frame_Del_p.FR1106del NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 1089 Arg-rich. cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 CAGATGCCTTCCGCCGCCGCCGC 0.655 8 1344 --- --- --- --- SLC4A5 57835 broad.mit.edu 37 2 74479414 74479416 + In_Frame_Del DEL CCA CCA - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr2:74479414_74479416delCCA ENST00000394019.2 - 16 1765_1767 c.1368_1370delTGG c.(1366-1371)ggc>gg p.GG456del RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000423644.1_In_Frame_Del_p.GG456del|SLC4A5_ENST00000357822.5_In_Frame_Del_p.GG456del|SLC4A5_ENST00000346834.4_In_Frame_Del_p.GG456del|SLC4A5_ENST00000377632.1_In_Frame_Del_p.GG456del|SLC4A5_ENST00000377634.4_In_Frame_Del_p.GG456del|SLC4A5_ENST00000359484.4_In_Frame_Del_p.GG392del|SLC4A5_ENST00000358683.4_In_Frame_Del_p.GG392del|SLC4A5_ENST00000483195.1_5'UTR NM_133478.2 NP_597812.1 Q9BY07 S4A5_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 5 456 Gly-rich. apical plasma membrane|integral to membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 gccgccactgccaccaccaccac 0.635 7 296 --- --- --- --- MOGS 7841 broad.mit.edu 37 2 74689297 74689298 + Frame_Shift_Ins INS - - G TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr2:74689297_74689298insG ENST00000233616.4 - 4 1780_1781 c.1618_1619insC c.(1618-1620)cctfs p.P540fs MOGS_ENST00000452063.2_Frame_Shift_Ins_p.P434fs|MOGS_ENST00000409065.1_3'UTR NM_006302.2 NP_006293.2 Q13724 MOGS_HUMAN mannosyl-oligosaccharide glucosidase 540 oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane|membrane fraction mannosyl-oligosaccharide glucosidase activity cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2) 23 GGCATGCAGGCGGGGCAAGGCC 0.604 7 774 --- --- --- --- HTRA2 27429 broad.mit.edu 37 2 74757185 74757186 + Frame_Shift_Ins INS - - G TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr2:74757185_74757186insG ENST00000258080.3 + 1 682_683 c.52_53insG c.(52-54)ggcfs p.G18fs HTRA2_ENST00000467961.1_Intron|HTRA2_ENST00000352222.3_Frame_Shift_Ins_p.G18fs NM_013247.4 NP_037379.1 O43464 HTRA2_HUMAN HtrA serine peptidase 2 18 apoptosis|proteolysis|response to stress CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus serine-type endopeptidase activity|unfolded protein binding endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 12 TCGGGCATGGCGGGCTTTGGGG 0.718 9 483 --- --- --- --- AC027612.3 0 broad.mit.edu 37 2 91887904 91887905 + RNA INS - - T TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr2:91887904_91887905insT ENST00000436174.1 - 0 540 AGCTATTTTCCATTTTTTTTTT 0.292 8 303 --- --- --- --- SLC20A1 6574 broad.mit.edu 37 2 113416607 113416608 + Frame_Shift_Del DEL AG AG - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 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 8 534 --- --- --- --- MARCH7 64844 broad.mit.edu 37 2 160605268 160605268 + Frame_Shift_Del DEL T T - rs1365803 byFrequency TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr2:160605268delT ENST00000259050.3 + 5 1589 c.1467delT c.(1465-1467)ccfs p.P490fs MARCH7_ENST00000409175.1_Frame_Shift_Del_p.P490fs|MARCH7_ENST00000539065.1_Frame_Shift_Del_p.P434fs|MARCH7_ENST00000409591.1_Frame_Shift_Del_p.P452fs NM_022826.2 NP_073737.1 Q9H992 MARH7_HUMAN membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase 490 ligase activity|zinc ion binding breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2) 18 TTGCAGTCCCTCCAGCACTTG 0.428 7 2224 --- --- --- --- SSB 6741 broad.mit.edu 37 2 170657516 170657516 + Frame_Shift_Del DEL A A - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr2:170657516delA ENST00000409333.1 + 2 293 c.46delA c.(46-48)aafs p.K16fs SSB_ENST00000260956.4_Frame_Shift_Del_p.K16fs P05455 LA_HUMAN Sjogren syndrome antigen B (autoantigen La) 16 HTH La-type RNA-binding. histone mRNA metabolic process|tRNA modification nucleus|ribonucleoprotein complex mRNA binding|nucleotide binding|protein binding|tRNA binding endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 CCTGGAGGCCAAAATCTGTCA 0.333 7 563 --- --- --- --- CRYGA 1418 broad.mit.edu 37 2 209025577 209025577 + Frame_Shift_Del DEL C C - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr2:209025577delC ENST00000304502.4 - 3 495 c.476delG c.(475-477)gtfs p.G159fs NM_014617.3 NP_055432.2 crystallin, gamma A endometrium(1)|kidney(3)|large_intestine(1)|lung(7) 12 Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135) GGCATCTGCACCCCCCCAGTC 0.532 7 1363 --- --- --- --- VIL1 7429 broad.mit.edu 37 2 219301231 219301231 + Frame_Shift_Del DEL C C - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr2:219301231delC ENST00000248444.5 + 16 1941 c.1853delC c.(1852-1854)acfs p.T618fs VIL1_ENST00000392114.2_Frame_Shift_Del_p.T307fs NM_007127.2 NP_009058.2 P09327 VILI_HUMAN villin 1 618 Core. actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Renal(207;0.0474) Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CTGGTCATCACCCCCCGGCTC 0.502 7 1462 --- --- --- --- FAM134A 79137 broad.mit.edu 37 2 220046927 220046927 + Frame_Shift_Del DEL C C - rs150430421 TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr2:220046927delC ENST00000430297.2 + 9 1344 c.1208delC c.(1207-1209)tcfs p.S403fs NM_024293.4 NP_077269.3 Q8NC44 F134A_HUMAN family with sequence similarity 134, member A 403 endoplasmic reticulum|integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2) 19 Renal(207;0.0915) Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CGGCTCTCATCCCCCCTCCAC 0.592 7 1745 --- --- --- --- FAM134A 79137 broad.mit.edu 37 2 220046969 220046969 + Frame_Shift_Del DEL C C - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr2:220046969delC ENST00000430297.2 + 9 1386 c.1250delC c.(1249-1251)tcfs p.S417fs NM_024293.4 NP_077269.3 Q8NC44 F134A_HUMAN family with sequence similarity 134, member A 417 endoplasmic reticulum|integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2) 19 Renal(207;0.0915) Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGGGCAGGGTCCCCCCCAGAT 0.602 7 1374 --- --- --- --- EFHD1 80303 broad.mit.edu 37 2 233546363 233546365 + In_Frame_Del DEL GGA GGA - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr2:233546363_233546365delGGA ENST00000264059.3 + 4 1131_1133 c.654_656delGGA c.(652-657)cgg>cg p.RE218del EFHD1_ENST00000410095.1_In_Frame_Del_p.RE106del|EFHD1_ENST00000409613.1_In_Frame_Del_p.RE122del|EFHD1_ENST00000409708.1_In_Frame_Del_p.RE106del NM_025202.3 NP_079478.1 Q9BUP0 EFHD1_HUMAN EF-hand domain family, member D1 218 calcium ion binding|protein binding NS(1)|breast(1)|large_intestine(2)|lung(3) 7 all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025) Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101) AGCGGAAGCGGGAGGAGGAGGAG 0.547 7 654 --- --- --- --- DGKD 8527 broad.mit.edu 37 2 234365952 234365952 + Frame_Shift_Del DEL G G - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr2:234365952delG ENST00000264057.2 + 21 2570 c.2558delG c.(2557-2559)tgfs p.W853fs DGKD_ENST00000409813.3_Frame_Shift_Del_p.W809fs NM_152879.2 NP_690618.2 Q16760 DGKD_HUMAN diacylglycerol kinase, delta 130kDa 853 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1) 38 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;0.0538) Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655) Phosphatidylserine(DB00144) ACCAACTTCTGGGGGGGTACC 0.582 8 681 --- --- --- --- TRPM8 79054 broad.mit.edu 37 2 234879010 234879010 + Frame_Shift_Del DEL C C - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr2:234879010delC ENST00000324695.4 + 17 2335 c.2295delC c.(2293-2295)cafs p.H765fs TRPM8_ENST00000433712.2_Intron NM_024080.4 NP_076985.4 Q7Z2W7 TRPM8_HUMAN transient receptor potential cation channel, subfamily M, member 8 765 integral to membrane breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2) 66 Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224) Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108) Menthol(DB00825) CGGTGCCACACCCCCCCGAGC 0.577 9 2314 --- --- --- --- GAL3ST2 64090 broad.mit.edu 37 2 242738494 242738496 + In_Frame_Del DEL TCC TCC - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr2:242738494_242738496delTCC ENST00000192314.6 + 2 175_177 c.44_46delTCC c.(43-48)atc>a p.IL15del NM_022134.2 NP_071417.2 Q9H3Q3 G3ST2_HUMAN galactose-3-O-sulfotransferase 2 15 biosynthetic process Golgi cisterna membrane|integral to membrane galactosylceramide sulfotransferase activity p.L16I(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1) 14 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833) TTCCGGGTCATCCTCCTCCTCCT 0.631 13 569 --- --- --- --- TATDN2 9797 broad.mit.edu 37 3 10291121 10291123 + In_Frame_Del DEL CTC CTC - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr3:10291121_10291123delCTC ENST00000287652.4 + 2 1288_1290 c.237_239delCTC c.(235-240)aac>aa p.NS79del TATDN2_ENST00000448281.2_In_Frame_Del_p.NS79del|RP11-438J1.1_ENST00000450534.1_In_Frame_Del_p.NS22del NM_014760.3 NP_055575.3 Q93075 TATD2_HUMAN TatD DNase domain containing 2 79 nucleus endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2) 28 GCAGAAATAACTCCTCCTCCTCC 0.635 7 1770 --- --- --- --- TMEM40 55287 broad.mit.edu 37 3 12790198 12790200 + In_Frame_Del DEL GAG GAG - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr3:12790198_12790200delGAG ENST00000314124.7 - 3 521_523 c.165_167delCTC c.(163-168)tct>tc p.SS69del TMEM40_ENST00000435218.2_In_Frame_Del_p.SS69del|TMEM40_ENST00000435575.1_Intron|TMEM40_ENST00000431022.2_In_Frame_Del_p.SS85del|TMEM40_ENST00000264728.8_In_Frame_Del_p.SS69del NM_018306.2 NP_060776.2 Q8WWA1 TMM40_HUMAN transmembrane protein 40 69 Ser-rich. integral to membrane breast(1)|large_intestine(3)|lung(5)|urinary_tract(1) 10 tgaggaggaagaggaggaggagg 0.419 11 1284 --- --- --- --- DLEC1 9940 broad.mit.edu 37 3 38162039 38162040 + Frame_Shift_Del DEL GA GA - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr3:38162039_38162040delGA ENST00000308059.6 + 34 4826_4827 c.4805_4806delGA c.(4804-4806)gfs p.G1602fs DLEC1_ENST00000346219.3_Frame_Shift_Del_p.G1602fs|DLEC1_ENST00000452631.2_Frame_Shift_Del_p.G1605fs Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 1602 negative regulation of cell proliferation cytoplasm NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 51 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) AGTGCGAGTGGAGAGAGAGAGA 0.579 7 432 --- --- --- --- MST1R 4486 broad.mit.edu 37 3 49940112 49940112 + Frame_Shift_Del DEL C C - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr3:49940112delC ENST00000296474.3 - 1 958 c.931delG c.(931-933)ccfs p.A311fs CTD-2330K9.2_ENST00000435478.1_RNA|MST1R_ENST00000344206.4_Frame_Shift_Del_p.A311fs NM_002447.2 NP_002438.2 Q04912 RON_HUMAN macrophage stimulating 1 receptor (c-met-related tyrosine kinase) 311 Sema. cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|macrophage colony-stimulating factor receptor activity|protein binding cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3) 37 BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) CCTTCTGGGGCCCCCCGGCGC 0.667 7 1249 --- --- --- --- RBM15B 29890 broad.mit.edu 37 3 51430822 51430824 + In_Frame_Del DEL CCA CCA - rs147738916 byFrequency TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr3:51430822_51430824delCCA ENST00000323686.4 + 1 2092_2094 c.1992_1994delCCA c.(1990-1995)ggc>gg p.GH664del NM_013286.4 NP_037418.3 Q8NDT2 RB15B_HUMAN RNA binding motif protein 15B 664 His-rich. interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent nucleoplasm nucleotide binding|protein binding|RNA binding endometrium(4)|large_intestine(5)|lung(3) 12 BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) AGGAACGGGGCCACCACCACCAC 0.635 7 286 --- --- --- --- ERC2 26059 broad.mit.edu 37 3 55733470 55733472 + In_Frame_Del DEL TGG TGG - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr3:55733470_55733472delTGG ENST00000288221.6 - 16 3036_3038 c.2781_2783delCCA c.(2779-2784)cat>ca p.HH931del NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 931 Poly-His. cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) gtggtggtgatggtggtggtggt 0.502 11 1618 --- --- --- --- LRIG1 26018 broad.mit.edu 37 3 66436625 66436627 + In_Frame_Del DEL GCT GCT - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr3:66436625_66436627delGCT ENST00000383703.3 - 14 2242_2244 c.1639_1641delAGC c.(1639-1641)del p.S548del LRIG1_ENST00000273261.3_In_Frame_Del_p.S524del|LRIG1_ENST00000496559.2_5'UTR|SLC25A26_ENST00000536651.1_3'UTR Q96JA1 LRIG1_HUMAN leucine-rich repeats and immunoglobulin-like domains 1 524 Ig-like C2-type 1. integral to membrane NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1) 42 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) TCATGGGGGAGCTGCTGCTGCTG 0.547 7 1961 --- --- --- --- VGLL3 389136 broad.mit.edu 37 3 87027857 87027859 + In_Frame_Del DEL CTC CTC - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr3:87027857_87027859delCTC ENST00000398399.2 - 2 583_585 c.220_222delGAG c.(220-222)del p.E74del VGLL3_ENST00000383698.3_In_Frame_Del_p.E74del NM_016206.2 NP_057290.2 A8MV65 VGLL3_HUMAN vestigial like 3 (Drosophila) 74 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11) 19 all_cancers(8;0.109)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712) GCTGGtctttctcctcctcctcc 0.502 7 316 --- --- --- --- MYLK 4638 broad.mit.edu 37 3 123368043 123368044 + Splice_Site INS - - G rs138786404 TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr3:123368043_123368044insG ENST00000360772.3 - 26 4667 c.e26-2 MYLK_ENST00000475616.1_Splice_Site|MYLK_ENST00000360304.3_Splice_Site|MYLK_ENST00000359169.1_Splice_Site|MYLK_ENST00000354792.5_Splice_Site|MYLK_ENST00000346322.5_Splice_Site Q15746 MYLK_HUMAN myosin light chain kinase aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) CCTTCGGCTCTGGGGGGGGCAC 0.624 11 622 --- --- --- --- ZXDC 79364 broad.mit.edu 37 3 126178522 126178522 + Frame_Shift_Del DEL T T - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr3:126178522delT ENST00000389709.3 - 7 2239 c.2186delA c.(2185-2187)agfs p.K729fs NM_025112.4 NP_079388.3 Q2QGD7 ZXDC_HUMAN ZXD family zinc finger C 729 positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1) 17 GBM - Glioblastoma multiforme(114;0.155) TCCTCTCTGCTTTTTTTCCTT 0.522 7 3278 --- --- --- --- TMCC1 23023 broad.mit.edu 37 3 129370576 129370578 + In_Frame_Del DEL CTG CTG - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr3:129370576_129370578delCTG ENST00000393238.3 - 6 2048_2050 c.1708_1710delCAG c.(1708-1710)del p.Q570del TMCC1_ENST00000426664.2_In_Frame_Del_p.Q456del|TMCC1_ENST00000432054.2_In_Frame_Del_p.Q246del|TMCC1_ENST00000329333.5_In_Frame_Del_p.Q391del NM_001017395.3 NP_001017395.2 O94876 TMCC1_HUMAN transmembrane and coiled-coil domain family 1 570 integral to membrane PLXND1/TMCC1(4) breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1) 25 GCTGCACCACCTGCTGCTGCTGC 0.581 10 573 --- --- --- --- TMCC1 23023 broad.mit.edu 37 3 129546680 129546682 + In_Frame_Del DEL GCA GCA - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 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 9 320 --- --- --- --- TFDP2 7029 broad.mit.edu 37 3 141692946 141692947 + Frame_Shift_Ins INS - - T TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr3:141692946_141692947insT ENST00000499676.2 - 8 1097_1098 c.426_427insA c.(424-429)aaaaatfs p.N143fs TFDP2_ENST00000397991.4_Frame_Shift_Ins_p.N175fs|TFDP2_ENST00000479040.1_Frame_Shift_Ins_p.N142fs|TFDP2_ENST00000477292.1_Frame_Shift_Ins_p.N67fs|TFDP2_ENST00000317104.7_Frame_Shift_Ins_p.N127fs|TFDP2_ENST00000310282.6_Frame_Shift_Ins_p.N143fs|TFDP2_ENST00000467072.1_Frame_Shift_Ins_p.N143fs|TFDP2_ENST00000486111.1_Frame_Shift_Ins_p.N143fs|TFDP2_ENST00000495310.1_Frame_Shift_Ins_p.N106fs|TFDP2_ENST00000489671.1_Frame_Shift_Ins_p.N203fs NM_001178139.1 NP_001171610.1 Q14188 TFDP2_HUMAN transcription factor Dp-2 (E2F dimerization partner 2) 203 cell cycle transcription factor complex DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription factor binding kidney(1)|upper_aerodigestive_tract(2) 3 CACTTGATTTCTTTTTTTTCCT 0.342 7 599 --- --- --- --- WWTR1 25937 broad.mit.edu 37 3 149260194 149260196 + In_Frame_Del DEL CTG CTG - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr3:149260194_149260196delCTG ENST00000465804.1 - 5 953_955 c.697_699delCAG c.(697-699)del p.Q233del WWTR1_ENST00000360632.3_In_Frame_Del_p.Q233del|WWTR1_ENST00000467467.1_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 9 440 --- --- --- --- MED12L 116931 broad.mit.edu 37 3 150877786 150877786 + Frame_Shift_Del DEL C C - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr3:150877786delC ENST00000474524.1 + 7 1043 c.1005delC c.(1003-1005)ggfs p.G335fs MED12L_ENST00000273432.4_Intron|MED12L_ENST00000422248.2_Frame_Shift_Del_p.G335fs|MED12L_ENST00000309237.4_Frame_Shift_Del_p.G335fs NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 335 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CCAGCCCTGGCCCCCCCGGCC 0.582 10 1151 --- --- --- --- GPR171 29909 broad.mit.edu 37 3 150917110 150917110 + Frame_Shift_Del DEL A A - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr3:150917110delA ENST00000309180.5 - 3 294 c.64delT c.(64-66)atfs p.Y22fs MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron NM_013308.3 NP_037440.3 O14626 GP171_HUMAN G protein-coupled receptor 171 22 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1) 15 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) AAAACTAAATAAAAAAAATAC 0.353 7 475 --- --- --- --- MED12L 116931 broad.mit.edu 37 3 151148114 151148116 + In_Frame_Del DEL CAG CAG - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr3:151148114_151148116delCAG ENST00000474524.1 + 42 6369_6371 c.6331_6333delCAG c.(6331-6333)del p.Q2115del MED12L_ENST00000273432.4_In_Frame_Del_p.Q1779del NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 2115 Gln-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex p.Q2111E(1) NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GCAGCAGACCCAGCAGCAGCAGC 0.527 10 556 --- --- --- --- RP11-3P17.4 0 broad.mit.edu 37 3 161146872 161146873 + RNA DEL AT AT - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr3:161146872_161146873delAT ENST00000473595.1 + 0 1231 NR_102265.1 TGGTGAAAAGATATATATATAT 0.342 10 167 --- --- --- --- PHC3 80012 broad.mit.edu 37 3 169896635 169896637 + In_Frame_Del DEL TGG TGG - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr3:169896635_169896637delTGG ENST00000494943.1 - 2 136_138 c.68_70delCCA c.(67-72)atc>a p.TI23del PHC3_ENST00000497658.1_In_Frame_Del_p.TI35del|PHC3_ENST00000481639.1_In_Frame_Del_p.TI35del|PHC3_ENST00000474275.1_In_Frame_Del_p.TI23del|PHC3_ENST00000467570.1_In_Frame_Del_p.TI35del|PHC3_ENST00000495893.1_In_Frame_Del_p.TI35del Q8NDX5 PHC3_HUMAN polyhomeotic homolog 3 (Drosophila) 23 Poly-Thr. multicellular organismal development PcG protein complex DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2) 26 all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655) GAAgtggtgatggtggtggtggt 0.493 8 1804 --- --- --- --- ABCC5 10057 broad.mit.edu 37 3 183665257 183665257 + Frame_Shift_Del DEL A A - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr3:183665257delA ENST00000334444.6 - 23 3509 c.3269delT c.(3268-3270)tgfs p.L1090fs ABCC5_ENST00000265586.6_Frame_Shift_Del_p.L1047fs NM_005688.2 NP_005679.2 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 5 1090 ABC transmembrane type-1 2. integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) ACACGTAAACAAAAAAAAAGG 0.532 8 195 --- --- --- --- ATP13A3 79572 broad.mit.edu 37 3 194181471 194181473 + In_Frame_Del DEL GAG GAG - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 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 8 904 --- --- --- --- SLC51A 200931 broad.mit.edu 37 3 195955100 195955102 + In_Frame_Del DEL CTG CTG - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr3:195955100_195955102delCTG ENST00000296327.5 + 5 686_688 c.477_479delCTG c.(475-480)ccc>cc p.PC159del NM_152672.5 NP_689885.4 solute carrier family 51, alpha subunit ACACAGGCCCctgctgctgctgc 0.665 17 683 --- --- --- --- HGFAC 3083 broad.mit.edu 37 4 3443798 3443800 + In_Frame_Del DEL CTG CTG - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr4:3443798_3443800delCTG ENST00000382774.3 + 1 185_187 c.70_72delCTG c.(70-72)del p.L29del HGFAC_ENST00000511533.1_In_Frame_Del_p.L29del NM_001528.2 NP_001519.1 Q04756 HGFA_HUMAN HGF activator 29 proteolysis extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 22 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) CCTCCTCCTCCTGCTGCTGCTGC 0.714 8 266 --- --- --- --- SLC34A2 10568 broad.mit.edu 37 4 25678148 25678150 + In_Frame_Del DEL GCT GCT - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr4:25678148_25678150delGCT ENST00000382051.3 + 13 1900_1902 c.1850_1852delGCT c.(1849-1854)cgc>c p.RC617del SLC34A2_ENST00000503434.1_In_Frame_Del_p.RC616del|SLC34A2_ENST00000504570.1_In_Frame_Del_p.RC616del NM_001177998.1|NM_006424.2 NP_001171469.1|NP_006415.2 O95436 NPT2B_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 2 617 Cys-rich. cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity SLC34A2/ROS1(14) breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4) 41 Breast(46;0.0503) TTCCAGATGCgctgctgctgctg 0.640 T ROS1 NSCLC 12 526 --- --- --- --- CLOCK 9575 broad.mit.edu 37 4 56304530 56304532 + In_Frame_Del DEL CTG CTG - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr4:56304530_56304532delCTG ENST00000309964.4 - 21 2528_2530 c.2278_2280delCAG c.(2278-2280)del p.Q760del CLOCK_ENST00000513440.1_In_Frame_Del_p.Q760del|CLOCK_ENST00000381322.1_In_Frame_Del_p.Q760del NM_004898.3 NP_004889.1 O15516 CLOCK_HUMAN clock circadian regulator 760 Gln-rich. 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 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) cctgggagctctgctgctgctgc 0.512 7 314 --- --- --- --- KIAA1211 57482 broad.mit.edu 37 4 57182265 57182267 + In_Frame_Del DEL AGA AGA - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr4:57182265_57182267delAGA ENST00000504228.1 + 6 2702_2704 c.2597_2599delAGA c.(2596-2601)cag>c p.QK866del KIAA1211_ENST00000264229.6_In_Frame_Del_p.QK866del|KIAA1211_ENST00000541073.1_In_Frame_Del_p.QK859del Q6ZU35 K1211_HUMAN KIAA1211 866 endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1) 65 Glioma(25;0.08)|all_neural(26;0.101) CAGGCAGAACAGAAGAAGAAGAA 0.567 9 388 --- --- --- --- RP11-453E17.1 0 broad.mit.edu 37 4 68632418 68632419 + RNA INS - - AT rs59536241 by1000genomes TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr4:68632418_68632419insAT ENST00000500538.2 + 0 1905 RP11-453E17.1_ENST00000502758.1_RNA cacacacacacaTATATATAct 0.431 29 31 --- --- --- --- PRDM8 56978 broad.mit.edu 37 4 81123250 81123252 + In_Frame_Del DEL CAG CAG - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 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) 10 430 --- --- --- --- SEC31A 22872 broad.mit.edu 37 4 83745800 83745800 + Frame_Shift_Del DEL T T - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr4:83745800delT ENST00000432794.1 - 26 3521 c.3358delA c.(3358-3360)ttfs p.I1120fs SEC31A_ENST00000355196.2_Frame_Shift_Del_p.I1107fs|SEC31A_ENST00000348405.4_Frame_Shift_Del_p.I1068fs|SEC31A_ENST00000448323.1_Frame_Shift_Del_p.I1107fs|SEC31A_ENST00000505984.1_Frame_Shift_Del_p.I1053fs|SEC31A_ENST00000395310.2_Frame_Shift_Del_p.I1107fs|SEC31A_ENST00000500777.2_Frame_Shift_Del_p.I954fs|SEC31A_ENST00000326950.5_Frame_Shift_Del_p.I1068fs|SEC31A_ENST00000513858.1_Frame_Shift_Del_p.I954fs|SEC31A_ENST00000508502.1_Frame_Shift_Del_p.I1092fs|SEC31A_ENST00000505472.1_Frame_Shift_Del_p.I1138fs|SEC31A_ENST00000264405.5_Frame_Shift_Del_p.I856fs|SEC31A_ENST00000443462.2_Frame_Shift_Del_p.I1087fs|SEC31A_ENST00000311785.7_Frame_Shift_Del_p.I993fs|SEC31A_ENST00000509142.1_Frame_Shift_Del_p.I993fs O94979 SC31A_HUMAN SEC31 homolog A (S. cerevisiae) 1107 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) TTCTTGGTAATTTTTTTTGTT 0.388 7 457 --- --- --- --- PKD2 5311 broad.mit.edu 37 4 88986559 88986559 + Frame_Shift_Del DEL A A - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr4:88986559delA ENST00000237596.2 + 11 2218 c.2152delA c.(2152-2154)aafs p.K719fs PKD2_ENST00000511337.1_3'UTR|PKD2_ENST00000502363.1_Frame_Shift_Del_p.K137fs|PKD2_ENST00000508588.1_Frame_Shift_Del_p.K137fs NM_000297.3 NP_000288.1 Q13563 PKD2_HUMAN polycystic kidney disease 2 (autosomal dominant) 719 EF-hand domain. basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1) 36 Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221) OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237) ACTAAAACTGAAAAAAAATAC 0.383 8 959 --- --- --- --- CXXC4 80319 broad.mit.edu 37 4 105412465 105412467 + In_Frame_Del DEL GCC GCC - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr4:105412465_105412467delGCC ENST00000394767.2 - 2 943_945 c.493_495delGGC c.(493-495)del p.G165del AC004053.1_ENST00000500179.1_RNA|CXXC4_ENST00000426831.1_5'UTR|CXXC4_ENST00000466963.1_Intron NM_025212.2 NP_079488.2 Q9H2H0 CXXC4_HUMAN CXXC finger protein 4 0 Interaction with DVL1 (By similarity). negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis DNA binding|PDZ domain binding|zinc ion binding kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(123;3.05e-08) TGGTCCTgctgccgccgccgccg 0.695 11 544 --- --- --- --- SEC24D 9871 broad.mit.edu 37 4 119745869 119745870 + Frame_Shift_Ins INS - - G rs141446866 TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr4:119745869_119745870insG ENST00000379735.5 - 3 424_425 c.153_154insC c.(151-156)acccacfs p.H52fs SEC24D_ENST00000419654.2_5'UTR|SEC24D_ENST00000280551.6_Frame_Shift_Ins_p.H52fs NM_014822.2 NP_055637.2 O94855 SC24D_HUMAN SEC24 family member D 52 Pro-rich. COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 37 CCCCTAGTGGCGGTGGCCCCCA 0.540 8 1114 --- --- --- --- EXOSC9 5393 broad.mit.edu 37 4 122723894 122723894 + Frame_Shift_Del DEL T T - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr4:122723894delT ENST00000512454.1 + 2 395 c.179delT c.(178-180)ctfs p.L60fs EXOSC9_ENST00000379663.3_Frame_Shift_Del_p.L76fs|EXOSC9_ENST00000243498.5_Frame_Shift_Del_p.L76fs|EXOSC9_ENST00000509980.1_3'UTR Q06265 EXOS9_HUMAN exosome component 9 76 ARE binding. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing cytosol|nuclear exosome (RNase complex)|nucleolus|nucleus 3'-5'-exoribonuclease activity|AU-rich element binding|protein binding cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1) 16 GAAGGTATTCTTTTTTTTAAC 0.383 9 770 --- --- --- --- ADAD1 132612 broad.mit.edu 37 4 123302211 123302211 + Frame_Shift_Del DEL A A - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr4:123302211delA ENST00000296513.2 + 4 422 c.237delA c.(235-237)ccfs p.P79fs ADAD1_ENST00000388725.2_Frame_Shift_Del_p.P61fs|ADAD1_ENST00000388724.2_Frame_Shift_Del_p.P79fs|ADAD1_ENST00000492454.1_3'UTR NM_139243.3 NP_640336.1 Q96M93 ADAD1_HUMAN adenosine deaminase domain containing 1 (testis-specific) 79 multicellular organismal development|RNA processing nucleus adenosine deaminase activity|double-stranded RNA binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 35 TCCTTCCTCCAAAAAAAATAC 0.358 8 479 --- --- --- --- PCDH10 57575 broad.mit.edu 37 4 134072551 134072551 + Frame_Shift_Del DEL C C - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr4:134072551delC ENST00000264360.4 + 1 2082 c.1256delC c.(1255-1257)gcfs p.A419fs NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 419 Cadherin 4. 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) GTTACCGAAGCCCCCCTGGAC 0.592 7 2017 --- --- --- --- OTUD4 54726 broad.mit.edu 37 4 146077123 146077125 + In_Frame_Del DEL CAG CAG - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 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 13 492 --- --- --- --- HMGB2 3148 broad.mit.edu 37 4 174253277 174253279 + In_Frame_Del DEL TCC TCC - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr4:174253277_174253279delTCC ENST00000296503.5 - 5 1455_1457 c.582_584delGGA c.(580-585)gaa>ga p.EE196del HMGB2_ENST00000438704.2_In_Frame_Del_p.EE196del|HMGB2_ENST00000446922.2_In_Frame_Del_p.EE196del P26583 HMGB2_HUMAN high mobility group box 2 196 Asp/Glu-rich (acidic). base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding p.E194E(1) endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3) 14 Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122) all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249) atcttcttcttcctcctcctcct 0.468 9 553 --- --- --- --- SORBS2 8470 broad.mit.edu 37 4 186544620 186544622 + In_Frame_Del DEL GGT GGT - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr4:186544620_186544622delGGT ENST00000431808.1 - 14 2512_2514 c.1949_1951delACC c.(1948-1953)cgc>c p.HR650del SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000418609.1_In_Frame_Del_p.HR554del|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000284776.7_In_Frame_Del_p.HR650del|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000355634.5_In_Frame_Del_p.HR750del|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000498125.1_Intron O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 650 His-rich. actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 53 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) ATGAggtggcggtggtggtggtg 0.522 7 183 --- --- --- --- IRX4 50805 broad.mit.edu 37 5 1879669 1879671 + In_Frame_Del DEL CCT CCT - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr5:1879669_1879671delCCT ENST00000505790.1 - 5 1139_1141 c.683_685delAGG c.(682-687)ggg>g p.EG228del IRX4_ENST00000231357.2_In_Frame_Del_p.EG228del|IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000513692.1_In_Frame_Del_p.EG228del NM_001278634.1 NP_001265563.1 P78413 IRX4_HUMAN iroquois homeobox 4 228 Poly-Glu. heart development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|lung(7)|ovary(1)|prostate(1) 10 GBM - Glioblastoma multiforme(108;0.242) tcctcgcccccctcctcctcctc 0.685 10 308 --- --- --- --- ZFR 51663 broad.mit.edu 37 5 32419951 32419953 + In_Frame_Del DEL GGT GGT - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr5:32419951_32419953delGGT ENST00000265069.8 - 3 495_497 c.393_395delACC c.(391-396)ccc>cc p.PP131del NM_016107.3 NP_057191.2 Q96KR1 ZFR_HUMAN zinc finger RNA binding protein 131 Ala-rich. multicellular organismal development chromosome|cytoplasm|nucleus DNA binding|RNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2) 32 STAD - Stomach adenocarcinoma(35;0.19) AGTAGCTGGGGGTGGTGGTGGTG 0.483 12 1143 --- --- --- --- AC026703.1 0 broad.mit.edu 37 5 32789822 32789823 + Frame_Shift_Del DEL GT GT - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 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 9 531 --- --- --- --- THBS4 7060 broad.mit.edu 37 5 79372774 79372776 + In_Frame_Del DEL TGA TGA - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr5:79372774_79372776delTGA ENST00000350881.2 + 16 2179_2181 c.1989_1991delTGA c.(1987-1992)tgt>tg p.CD663del CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_In_Frame_Del_p.CD572del|CTD-2201I18.1_ENST00000514042.1_RNA NM_003248.4 NP_003239.2 P35443 TSP4_HUMAN thrombospondin 4 663 endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation basement membrane|extracellular space calcium ion binding|heparin binding|integrin binding|structural molecule activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3) 34 Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34) GTGACGAGTGTGATGATGATGAT 0.562 12 1755 --- --- --- --- CDO1 1036 broad.mit.edu 37 5 115148957 115148958 + Splice_Site INS - - A TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr5:115148957_115148958insA ENST00000250535.4 - 2 727 c.e2-2 CDO1_ENST00000502631.1_Splice_Site NM_001801.2 NP_001792.2 Q16878 CDO1_HUMAN cysteine dioxygenase type 1 inflammatory response|sulfur amino acid biosynthetic process|taurine biosynthetic process cytosol cysteine dioxygenase activity p.?(1) breast(1)|endometrium(1)|large_intestine(3)|lung(1)|skin(5) 11 all_cancers(142;0.0046)|all_epithelial(76;0.000161)|Prostate(80;0.0132)|Ovarian(225;0.0776) OV - Ovarian serous cystadenocarcinoma(64;7.8e-08)|Epithelial(69;7.32e-07)|all cancers(49;3.24e-05) L-Cysteine(DB00151)|NADH(DB00157) CGGGTATACCTAAAAAAAAACA 0.332 7 412 --- --- --- --- AP3S1 1176 broad.mit.edu 37 5 115202418 115202421 + Frame_Shift_Del DEL AAGA AAGA - rs80118146 TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr5:115202418_115202421delAAGA ENST00000316788.7 + 2 678_681 c.121_124delAAGA c.(121-126)gafs p.KR41fs NM_001284.2 NP_001275.1 Q92572 AP3S1_HUMAN adaptor-related protein complex 3, sigma 1 subunit 41 insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle protein binding|protein transporter activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1) 12 all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245) OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05) TTTGGTATCTAAGAGAGATGAAAA 0.304 18 327 --- --- --- --- DMXL1 1657 broad.mit.edu 37 5 118525523 118525524 + Frame_Shift_Ins INS - - G rs17144964 byFrequency TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr5:118525523_118525524insG ENST00000311085.8 + 29 7336_7337 c.7256_7257insG c.(7255-7257)ggtfs p.G2419fs DMXL1_ENST00000539542.1_Frame_Shift_Ins_p.G2419fs NM_005509.4 NP_005500.4 Q9Y485 DMXL1_HUMAN Dmx-like 1 2419 breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1) 86 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) GAGTCACTGGCGGTTAAAGAAA 0.421 10 926 --- --- --- --- ZNF608 57507 broad.mit.edu 37 5 124079813 124079815 + In_Frame_Del DEL CTC CTC - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr5:124079813_124079815delCTC ENST00000306315.5 - 1 1303_1305 c.868_870delGAG c.(868-870)del p.E290del ZNF608_ENST00000504926.1_Intron NM_020747.2 NP_065798.2 Q9ULD9 ZN608_HUMAN zinc finger protein 608 290 intracellular zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1) 46 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) GCCTGTGGCTCTCCTCCTCCTCC 0.522 8 1483 --- --- --- --- EGR1 1958 broad.mit.edu 37 5 137801684 137801686 + In_Frame_Del DEL CAG CAG - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr5:137801684_137801686delCAG ENST00000239938.4 + 1 506_508 c.234_236delCAG c.(232-237)aac>aa p.NS78del NM_001964.2 NP_001955.1 P18146 EGR1_HUMAN early growth response 1 78 Gly/Ser-rich. cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytoplasm|nucleus histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) gcggcagcaacagcagcagcagc 0.724 9 168 --- --- --- --- STK10 6793 broad.mit.edu 37 5 171517345 171517345 + Frame_Shift_Del DEL T T - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr5:171517345delT ENST00000176763.5 - 10 1919 c.1576delA c.(1576-1578)ccfs p.T526fs NM_005990.3 NP_005981.3 O94804 STK10_HUMAN serine/threonine kinase 10 526 ATP binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 47 Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094) Medulloblastoma(196;0.00868)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CGCTTGAGGGTTTTTTTGTAC 0.517 7 1551 --- --- --- --- RP11-536N17.1 0 broad.mit.edu 37 5 172243975 172243975 + RNA DEL A A - rs11354549 TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr5:172243975delA ENST00000518260.1 + 0 105 TCAGGGaaacaaaaaaaaaaa 0.408 8 5 --- --- --- --- BTN2A2 10385 broad.mit.edu 37 6 26384091 26384093 + In_Frame_Del DEL CCT CCT - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr6:26384091_26384093delCCT ENST00000356709.4 + 2 153_155 c.42_44delCCT c.(40-45)tcc>tc p.SL14del BTN2A2_ENST00000416795.2_In_Frame_Del_p.SL14del|BTN2A2_ENST00000482536.1_In_Frame_Del_p.SL14del|BTN2A2_ENST00000469230.1_In_Frame_Del_p.SL14del|BTN2A2_ENST00000352867.2_In_Frame_Del_p.SL14del|BTN2A2_ENST00000432533.2_In_Frame_Del_p.SL14del NM_001197240.1|NM_006995.4 NP_001184169.1|NP_008926.2 Q8WVV5 BT2A2_HUMAN butyrophilin, subfamily 2, member A2 14 negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion integral to membrane breast(2)|endometrium(3)|large_intestine(5)|lung(13) 23 TGCCAGCCTCcctcctcctcctc 0.581 7 628 --- --- --- --- HLA-V 0 broad.mit.edu 37 6 29761627 29761627 + RNA DEL T T - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr6:29761627delT ENST00000457107.1 + 0 853 ccccttgtcctgttgtaagtg 0.502 7 159 --- --- --- --- HLA-A 3105 broad.mit.edu 37 6 29911899 29911900 + Splice_Site INS - - C rs75368153 TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr6:29911899_29911900insC ENST00000396634.1 + 6 961_962 c.619_splice c.e6-1 p.A207_splice HLA-A_ENST00000376809.5_Splice_Site_p.A207_splice|HLA-A_ENST00000376802.2_Splice_Site_p.A207_splice|HLA-A_ENST00000376806.5_Splice_Site_p.A207_splice P30443 1A01_HUMAN major histocompatibility complex, class I, A 207 Alpha-3. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 TTCCCGTCAGACCCCCCCAAGA 0.574 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) 30 881 --- --- --- --- TRIM26 7726 broad.mit.edu 37 6 30157254 30157254 + Frame_Shift_Del DEL T T - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr6:30157254delT ENST00000454678.2 - 8 1281 c.845delA c.(844-846)agfs p.K282fs TRIM26_ENST00000437089.1_Frame_Shift_Del_p.K282fs|TRIM26_ENST00000453195.1_Frame_Shift_Del_p.K282fs NM_003449.4 NP_003440.1 Q12899 TRI26_HUMAN tripartite motif containing 26 282 DNA binding|zinc ion binding p.K282fs*16(1) lung(1)|ovary(2) 3 TTCTCCGGTCTTTTTTTTAAC 0.483 11 621 --- --- --- --- STK19 8859 broad.mit.edu 37 6 31939825 31939826 + Frame_Shift_Ins INS - - G TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr6:31939825_31939826insG ENST00000375331.2 + 1 218_219 c.52_53insG c.(52-54)ggcfs p.G18fs DOM3Z_ENST00000478221.1_5'UTR|DOM3Z_ENST00000375349.3_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.G18fs|DOM3Z_ENST00000337523.5_5'UTR NM_004197.1 NP_004188.1 P49842 STK19_HUMAN serine/threonine kinase 19 18 nucleus ATP binding|protein binding|protein serine/threonine kinase activity skin(5)|upper_aerodigestive_tract(2) 7 GCGACAGTGGCGGGCAAACCCC 0.634 33 972 --- --- --- --- STK19 8859 broad.mit.edu 37 6 31939829 31939830 + Frame_Shift_Ins INS - - A TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr6:31939829_31939830insA ENST00000375331.2 + 1 222_223 c.56_57insA c.(55-57)gaafs p.E19fs DOM3Z_ENST00000478221.1_5'UTR|DOM3Z_ENST00000375349.3_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.E19fs|DOM3Z_ENST00000337523.5_5'UTR NM_004197.1 NP_004188.1 P49842 STK19_HUMAN serine/threonine kinase 19 19 nucleus ATP binding|protein binding|protein serine/threonine kinase activity skin(5)|upper_aerodigestive_tract(2) 7 CAGTGGCGGGCAAACCCCTCCC 0.634 22 792 --- --- --- --- HLA-DRB6 0 broad.mit.edu 37 6 32522756 32522756 + RNA DEL A A - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr6:32522756delA ENST00000411500.1 - 0 458 NR_001298.1 GGACTAGGAGAAAAAAAGGTA 0.517 9 172 --- --- --- --- DAXX 1616 broad.mit.edu 37 6 33289253 33289253 + Frame_Shift_Del DEL A A - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr6:33289253delA ENST00000374542.5 - 3 503 c.299delT c.(298-300)tgfs p.L100fs DAXX_ENST00000266000.6_Frame_Shift_Del_p.L100fs|DAXX_ENST00000477162.1_Intron|DAXX_ENST00000414083.2_Frame_Shift_Del_p.L25fs NM_001141969.1|NM_001141970.1|NM_001350.4 NP_001135441.1|NP_001135442.1|NP_001341.1 Q9UER7 DAXX_HUMAN death-domain associated protein 100 Necessary for interaction with USP7. activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent chromosome, centromeric region|cytosol|nucleolus|PML body androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 55 CGCCGAGGCCAAAAACAGAGA 0.547 """Mis, F, N""" Pancreatic neuroendocrine tumors. Paediatric GBM 9 776 --- --- --- --- TREML2 79865 broad.mit.edu 37 6 41168714 41168716 + In_Frame_Del DEL CAG CAG - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr6:41168714_41168716delCAG ENST00000483722.1 - 1 216_218 c.31_33delCTG c.(31-33)del p.L11del NM_024807.2 NP_079083.2 Q5T2D2 TRML2_HUMAN triggering receptor expressed on myeloid cells-like 2 11 T cell activation cell surface|integral to membrane|plasma membrane protein binding|receptor activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1) 18 Ovarian(28;0.0418)|Colorectal(47;0.196) CCTGTGGCCACAGCAGCAGCAGC 0.631 9 263 --- --- --- --- MDFI 4188 broad.mit.edu 37 6 41621169 41621171 + In_Frame_Del DEL CTG CTG - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 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 8 618 --- --- --- --- PHF3 23469 broad.mit.edu 37 6 64394097 64394097 + Frame_Shift_Del DEL A A - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr6:64394097delA ENST00000262043.3 + 4 814 c.474delA c.(472-474)acfs p.T158fs PHF3_ENST00000393387.1_Frame_Shift_Del_p.T158fs|PHF3_ENST00000509330.1_Frame_Shift_Del_p.T158fs Q92576 PHF3_HUMAN PHD finger protein 3 158 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6) 75 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) TAAGTAACACAAAAAAAGCAT 0.383 9 1395 --- --- --- --- SYNCRIP 10492 broad.mit.edu 37 6 86332353 86332354 + Frame_Shift_Ins INS - - T TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 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 10 877 --- --- --- --- IFNGR1 3459 broad.mit.edu 37 6 137519505 137519506 + Frame_Shift_Del DEL CT CT - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr6:137519505_137519506delCT ENST00000367739.4 - 7 1253_1254 c.1132_1133delAG c.(1132-1134)tfs p.S380fs IFNGR1_ENST00000543628.1_Frame_Shift_Del_p.S352fs NM_000416.2 NP_000407.1 P15260 INGR1_HUMAN interferon gamma receptor 1 380 regulation of interferon-gamma-mediated signaling pathway|response to virus integral to plasma membrane interferon-gamma receptor activity central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 18 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389) Interferon gamma-1b(DB00033) AGGTGAAGAACTCTCTCTCTCT 0.431 11 576 --- --- --- --- OLIG3 167826 broad.mit.edu 37 6 137815210 137815212 + In_Frame_Del DEL TGG TGG - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr6:137815210_137815212delTGG ENST00000367734.2 - 1 319_321 c.96_98delCCA c.(94-99)cag>ca p.HQ32del NM_175747.2 NP_786923.1 Q7RTU3 OLIG3_HUMAN oligodendrocyte transcription factor 3 32 Poly-His. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.Q33K(1) endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 11 Breast(32;0.165)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447) ACGGCTCTCCtggtggtggtggt 0.596 7 545 --- --- --- --- MAP3K4 4216 broad.mit.edu 37 6 161469776 161469776 + Frame_Shift_Del DEL A A - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr6:161469776delA ENST00000392142.4 + 3 620 c.472delA c.(472-474)aafs p.K159fs MAP3K4_ENST00000446500.1_3'UTR|MAP3K4_ENST00000366919.2_Frame_Shift_Del_p.K159fs|MAP3K4_ENST00000366920.2_Frame_Shift_Del_p.K159fs|MAP3K4_ENST00000348824.7_Frame_Shift_Del_p.K159fs NM_005922.2 NP_005913.2 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 159 activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding p.N160fs*8(2) breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1) 77 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) GCGTGATCGTAAAAAAAATGT 0.403 7 666 --- --- --- --- MLLT4 4301 broad.mit.edu 37 6 168317900 168317900 + Frame_Shift_Del DEL T T - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr6:168317900delT ENST00000366806.2 + 19 2818 c.2676delT c.(2674-2676)ccfs p.P892fs MLLT4_ENST00000447894.2_Frame_Shift_Del_p.P892fs|MLLT4_ENST00000400822.3_Frame_Shift_Del_p.P891fs|MLLT4_ENST00000392108.3_Frame_Shift_Del_p.P892fs|MLLT4_ENST00000392112.1_Frame_Shift_Del_p.P876fs|MLLT4_ENST00000351017.4_Frame_Shift_Del_p.P899fs|MLLT4_ENST00000344191.4_Frame_Shift_Del_p.P892fs P55196 AFAD_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 892 Dilute. adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction adherens junction|cell-cell junction|cytosol|nucleus protein C-terminus binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(66;1.07e-05)|Ovarian(120;0.024) Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117) CTGATGAGCCTTTTATCCCAA 0.398 T MLL AL 7 702 --- --- --- --- TMEM184A 202915 broad.mit.edu 37 7 1586662 1586663 + In_Frame_Ins INS - - GCC rs3837151 by1000genomes TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr7:1586662_1586663insGCC ENST00000297477.5 - 9 1483_1484 c.1167_1168insGGC c.(1165-1170)ccgcgg>ccGGCgcgg p.389_390PR>PAR NM_001097620.1 NP_001091089.1 Q6ZMB5 T184A_HUMAN transmembrane protein 184A 389 integral to membrane endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 12 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15) GAGCCGCCGCTGGGGTGGGTGC 0.703 7 229 --- --- --- --- CARD11 84433 broad.mit.edu 37 7 2968323 2968323 + Frame_Shift_Del DEL G G - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr7:2968323delG ENST00000396946.4 - 13 2066 c.1663delC c.(1663-1665)ggfs p.R555fs NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 555 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) CTGCGGCTCCGGGGGGGCTGC 0.592 Mis DLBCL 7 612 --- --- --- --- PHF14 9678 broad.mit.edu 37 7 11075380 11075381 + Frame_Shift_Del DEL AG AG - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr7:11075380_11075381delAG ENST00000403050.3 + 8 2021_2022 c.1569_1570delAG c.(1567-1572)caagfs p.QE523fs PHF14_ENST00000445996.2_Frame_Shift_Del_p.QE238fs NM_014660.3 NP_055475.2 O94880 PHF14_HUMAN PHD finger protein 14 523 zinc ion binding NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 35 UCEC - Uterine corpus endometrioid carcinoma (126;0.205) TGTCTTTGCAAGAGAGAGAGAA 0.376 8 1534 --- --- --- --- OSBPL3 26031 broad.mit.edu 37 7 24910452 24910453 + Frame_Shift_Del DEL TC TC - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr7:24910452_24910453delTC ENST00000313367.2 - 5 730_731 c.279_280delGA c.(277-282)gaagfs p.EK93fs OSBPL3_ENST00000353930.1_Frame_Shift_Del_p.EK93fs|OSBPL3_ENST00000352860.1_Frame_Shift_Del_p.EK93fs|OSBPL3_ENST00000409069.1_Frame_Shift_Del_p.EK93fs|OSBPL3_ENST00000396431.1_Frame_Shift_Del_p.EK93fs|OSBPL3_ENST00000431825.2_Frame_Shift_Del_p.EK93fs|OSBPL3_ENST00000396429.1_Frame_Shift_Del_p.EK93fs NM_015550.2 NP_056365.1 Q9H4L5 OSBL3_HUMAN oxysterol binding protein-like 3 93 PH. lipid transport lipid binding|protein binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1) 43 CCATGCAGCTTCTCTCTCTCTA 0.500 8 461 --- --- --- --- TRGC2 0 broad.mit.edu 37 7 38284886 38284887 + RNA DEL GT GT - rs73692143 TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr7:38284886_38284887delGT ENST00000436911.2 - 0 330 ATTTGTCAAGgtgtgtgtgtgt 0.391 11 567 --- --- --- --- POU6F2 11281 broad.mit.edu 37 7 39379288 39379290 + In_Frame_Del DEL CAG CAG - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr7:39379288_39379290delCAG ENST00000518318.2 + 5 601_603 c.559_561delCAG c.(559-561)del p.Q196del POU6F2_ENST00000403058.1_In_Frame_Del_p.Q196del|POU6F2_ENST00000559001.1_In_Frame_Del_p.Q188del|POU6F2_ENST00000517348.1_3'UTR P78424 PO6F2_HUMAN POU class 6 homeobox 2 196 Gln-rich. Q -> QQ (in Ref. 1; AAB49727/AAB49728). central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 gctccagctccagcagcagcagc 0.616 14 209 --- --- --- --- PURB 5814 broad.mit.edu 37 7 44924131 44924131 + Frame_Shift_Del DEL A A - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr7:44924131delA ENST00000395699.2 - 1 829 c.817delT c.(817-819)gcfs p.C273fs NM_033224.3 NP_150093.1 Q96QR8 PURB_HUMAN purine-rich element binding protein B 273 regulation of myeloid cell differentiation DNA replication factor A complex mRNA binding|single-stranded DNA binding|transcription factor binding large_intestine(2)|lung(3)|prostate(1)|skin(1) 7 GCATACCGGCAAAAGGCGCCT 0.582 8 1218 --- --- --- --- ABCA13 154664 broad.mit.edu 37 7 48318519 48318519 + Frame_Shift_Del DEL A A - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 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 7 601 --- --- --- --- CCT6P3 0 broad.mit.edu 37 7 64528813 64528814 + RNA INS - - T TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr7:64528813_64528814insT ENST00000426828.1 + 0 621 NR_033416.1 CTTTCTGTAACTTTTTTTTTTT 0.317 8 80 --- --- --- --- INTS4L2 0 broad.mit.edu 37 7 65150816 65150816 + RNA DEL A A - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr7:65150816delA ENST00000430126.2 + 0 757 TTCATCCCTCACCCCCCCCCC 0.463 9 75 --- --- --- --- GTF2IRD2P1 0 broad.mit.edu 37 7 72683455 72683456 + RNA INS - - T TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr7:72683455_72683456insT ENST00000425256.1 - 0 120 NR_002164.1 CGTTCTACCAgtttttttttgt 0.441 10 463 --- --- --- --- DTX2 113878 broad.mit.edu 37 7 76112249 76112249 + Frame_Shift_Del DEL A A - rs147779783 byFrequency TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr7:76112249delA ENST00000324432.5 + 5 1203 c.693delA c.(691-693)ccfs p.P231fs DTX2_ENST00000413936.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000446820.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000446600.1_Frame_Shift_Del_p.P140fs|DTX2_ENST00000307569.8_Frame_Shift_Del_p.P231fs|DTX2_ENST00000430490.2_Frame_Shift_Del_p.P231fs NM_020892.2 NP_065943.2 Q86UW9 DTX2_HUMAN deltex homolog 2 (Drosophila) 231 Notch signaling pathway cytoplasm|nucleus protein binding|zinc ion binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2) 27 AGCACCCCCCACACAGGACCG 0.657 17 2646 --- --- --- --- TMEM60 85025 broad.mit.edu 37 7 77423460 77423460 + Frame_Shift_Del DEL T T - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr7:77423460delT ENST00000257663.3 - 2 607 c.231delA c.(229-231)aafs p.K77fs NM_032936.3 NP_116325.1 Q9H2L4 TMM60_HUMAN transmembrane protein 60 77 integral to membrane endometrium(1)|large_intestine(1)|lung(2) 4 GGTACCAGGCTTTTTTTTTAA 0.408 15 920 --- --- --- --- PEX1 5189 broad.mit.edu 37 7 92146721 92146721 + Frame_Shift_Del DEL T T - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr7:92146721delT ENST00000248633.4 - 5 1203 c.1108delA c.(1108-1110)ttfs p.I370fs PEX1_ENST00000428214.1_Frame_Shift_Del_p.I370fs|PEX1_ENST00000438045.1_Intron|PEX1_ENST00000541751.1_5'UTR 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 29 775 --- --- --- --- MOGAT3 346606 broad.mit.edu 37 7 100841562 100841562 + Frame_Shift_Del DEL C C - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr7:100841562delC ENST00000223114.4 - 5 744 c.578delG c.(577-579)gtfs p.G193fs MOGAT3_ENST00000379423.3_Frame_Shift_Del_p.G193fs|MOGAT3_ENST00000440203.2_Frame_Shift_Del_p.G193fs NM_178176.2 NP_835470.1 Q86VF5 MOGT3_HUMAN monoacylglycerol O-acyltransferase 3 193 glycerol metabolic process|lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3) 22 Lung NSC(181;0.168)|all_lung(186;0.215) CTCGTGCGCACCCCCCACCAT 0.677 7 442 --- --- --- --- WASL 8976 broad.mit.edu 37 7 123332873 123332875 + In_Frame_Del DEL GGA GGA - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 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 8 562 --- --- --- --- PODXL 5420 broad.mit.edu 37 7 131195813 131195813 + Frame_Shift_Del DEL C C - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr7:131195813delC ENST00000541194.1 - 2 743 c.486delG c.(484-486)ggfs p.G162fs PODXL_ENST00000378555.3_Frame_Shift_Del_p.G160fs|PODXL_ENST00000322985.9_Frame_Shift_Del_p.G160fs|PODXL_ENST00000537928.1_Frame_Shift_Del_p.G160fs NM_001018111.2 NP_001018121.1 O00592 PODXL_HUMAN podocalyxin-like 160 Thr-rich. cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 Melanoma(18;0.162) GGCTGCTTTTCCCCCCAGAGT 0.522 10 1622 --- --- --- --- CNOT4 4850 broad.mit.edu 37 7 135047688 135047688 + Frame_Shift_Del DEL G G - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr7:135047688delG ENST00000541284.1 - 12 2421 c.2091delC c.(2089-2091)ccfs p.P697fs CNOT4_ENST00000423368.2_Frame_Shift_Del_p.P626fs|CNOT4_ENST00000361528.4_Frame_Shift_Del_p.P623fs|CNOT4_ENST00000451834.1_Frame_Shift_Del_p.P694fs NM_001190849.1|NM_001190850.1 NP_001177778.1|NP_001177779.1 O95628 CNOT4_HUMAN CCR4-NOT transcription complex, subunit 4 366 nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1) 22 GGGTTTTGCTGGGGGGTCTGA 0.532 8 2545 --- --- --- --- C7orf55-LUC7L2 0 broad.mit.edu 37 7 139094365 139094366 + Frame_Shift_Del DEL AG AG - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr7:139094365_139094366delAG ENST00000354926.4 + 7 1098_1099 c.744_745delAG c.(742-747)gaagfs p.EE248fs C7orf55-LUC7L2_ENST00000541170.3_Frame_Shift_Del_p.EE245fs|C7orf55-LUC7L2_ENST00000263545.6_Frame_Shift_Del_p.EE247fs|LUC7L2_ENST00000541515.3_Frame_Shift_Del_p.EE314fs NM_016019.3 NP_057103.2 AACGAAGAGAAGAGAGAGAGAG 0.391 9 220 --- --- --- --- TRBV7-6 0 broad.mit.edu 37 7 142139683 142139684 + RNA INS - - A TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr7:142139683_142139684insA ENST00000390374.3 - 0 94 cctacacacaGAAAAAAAAATG 0.490 9 522 --- --- --- --- PRSS3P2 0 broad.mit.edu 37 7 142481743 142481745 + RNA DEL CTA CTA - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr7:142481743_142481745delCTA ENST00000603901.1 + 0 454 NR_001296.3 ACCCACATTTCTACTTTCTTTAT 0.517 13 388 --- --- --- --- SGK223 0 broad.mit.edu 37 8 8185784 8185784 + Frame_Shift_Del DEL G G - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr8:8185784delG ENST00000520004.1 - 5 2772 c.2508delC c.(2506-2508)ccfs p.P836fs SGK223_ENST00000330777.4_Frame_Shift_Del_p.P836fs Q86YV5 SG223_HUMAN 836 ATP binding|non-membrane spanning protein tyrosine kinase activity TTCCGGGCTTGGGGGAGCCTT 0.617 7 1247 --- --- --- --- DLC1 10395 broad.mit.edu 37 8 12957611 12957613 + In_Frame_Del DEL GCT GCT - rs137989738 TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr8:12957611_12957613delGCT ENST00000276297.4 - 9 2642_2644 c.2233_2235delAGC c.(2233-2235)del p.S745del DLC1_ENST00000512044.2_In_Frame_Del_p.S342del|DLC1_ENST00000520226.1_In_Frame_Del_p.S234del|DLC1_ENST00000358919.2_In_Frame_Del_p.S308del NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 745 Poly-Ser. actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 TCTCCGACTGGCTGCTGCTGCTG 0.621 11 355 --- --- --- --- ESCO2 157570 broad.mit.edu 37 8 27634576 27634577 + Frame_Shift_Ins INS - - A rs80359854 TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr8:27634576_27634577insA ENST00000305188.8 + 3 989_990 c.751_752insA c.(751-753)aaafs p.K251fs ESCO2_ENST00000397418.2_5'UTR|ESCO2_ENST00000523910.1_3'UTR NM_001017420.2 NP_001017420.1 Q56NI9 ESCO2_HUMAN establishment of sister chromatid cohesion N-acetyltransferase 2 251 cell cycle|post-translational protein acetylation|regulation of DNA replication chromatin|nucleus acyltransferase activity|metal ion binding autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Ovarian(32;0.000953) UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132) GACTGTCAGTGAAAAAAAAACT 0.396 SC Phocomelia syndrome 10 383 --- --- --- --- SULF1 23213 broad.mit.edu 37 8 70514026 70514026 + Frame_Shift_Del DEL T T - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr8:70514026delT ENST00000260128.4 + 10 1740 c.1023delT c.(1021-1023)ccfs p.P341fs SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Frame_Shift_Del_p.P341fs|SULF1_ENST00000458141.2_Frame_Shift_Del_p.P341fs|SULF1_ENST00000402687.4_Frame_Shift_Del_p.P341fs NM_015170.2 NP_055985.2 Q8IWU6 SULF1_HUMAN sulfatase 1 341 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) TTCGTGTGCCTTTTTTTATTC 0.408 12 1520 --- --- --- --- TERF1 7013 broad.mit.edu 37 8 73921284 73921286 + In_Frame_Del DEL GAG GAG - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr8:73921284_73921286delGAG ENST00000276602.6 + 1 186_188 c.163_165delGAG c.(163-165)del p.E62del TERF1_ENST00000276603.5_In_Frame_Del_p.E62del NM_003218.3 NP_003209.2 P54274 TERF1_HUMAN telomeric repeat binding factor (NIMA-interacting) 1 62 Asp/Glu-rich (acidic).|Poly-Glu.|TRFH dimerization. age-dependent telomere shortening|cell division|G2/M transition of mitotic cell cycle|induction of apoptosis|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of telomere maintenance via semi-conservative replication|negative regulation of telomere maintenance via telomerase|positive regulation of microtubule polymerization|positive regulation of mitosis|positive regulation of mitotic cell cycle|protein homooligomerization|regulation of transcription, DNA-dependent|telomere maintenance via telomerase|telomere maintenance via telomere shortening chromosome, telomeric region|cytoplasm|nuclear telomere cap complex|nucleoplasm|nucleus|spindle caspase activator activity|DNA bending activity|double-stranded telomeric DNA binding|identical protein binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|telomerase inhibitor activity|telomeric DNA binding central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 9 Breast(64;0.218) Epithelial(68;0.0984) GGGGGCCCCCgaggaggaggagg 0.650 13 200 --- --- --- --- STAU2 27067 broad.mit.edu 37 8 74507471 74507471 + Frame_Shift_Del DEL T T - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr8:74507471delT ENST00000355780.5 - 10 1213 c.995delA c.(994-996)atfs p.N332fs STAU2_ENST00000517542.1_Frame_Shift_Del_p.N326fs|STAU2_ENST00000522509.1_Frame_Shift_Del_p.N332fs|STAU2_ENST00000519961.1_Frame_Shift_Del_p.N364fs|STAU2_ENST00000521727.1_Frame_Shift_Del_p.N344fs|STAU2_ENST00000523558.1_Frame_Shift_Del_p.N192fs|STAU2_ENST00000521210.1_Frame_Shift_Del_p.N260fs|STAU2_ENST00000524300.1_Frame_Shift_Del_p.N364fs|STAU2_ENST00000522695.1_Frame_Shift_Del_p.N332fs|STAU2_ENST00000521451.1_Frame_Shift_Del_p.N144fs NM_014393.2 NP_055208.2 Q9NUL3 STAU2_HUMAN staufen double-stranded RNA binding protein 2 364 DRBM 4. transport endoplasmic reticulum|microtubule|nucleolus double-stranded RNA binding p.N332fs*67(1) breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1) 19 Breast(64;0.0138) Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972) TTCTGCAGCATTTTTTTTGGC 0.328 10 404 --- --- --- --- NOL6 65083 broad.mit.edu 37 9 33466939 33466939 + Frame_Shift_Del DEL G G - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr9:33466939delG ENST00000379471.2 - 15 2008 c.1921delC c.(1921-1923)tgfs p.L641fs NOL6_ENST00000455041.2_Frame_Shift_Del_p.L589fs|NOL6_ENST00000464829.1_Intron Q9H6R4 NOL6_HUMAN nucleolar protein 6 (RNA-associated) 641 rRNA processing condensed nuclear chromosome|nucleolus RNA binding endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2) 27 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.152) AGTGCATCCAGGGGGCCCCCC 0.512 OREG0019137 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 2695 --- --- --- --- NOL6 65083 broad.mit.edu 37 9 33466944 33466944 + Frame_Shift_Del DEL C C - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr9:33466944delC ENST00000379471.2 - 15 2003 c.1916delG c.(1915-1917)gcfs p.G639fs NOL6_ENST00000455041.2_Frame_Shift_Del_p.G587fs|NOL6_ENST00000464829.1_Intron Q9H6R4 NOL6_HUMAN nucleolar protein 6 (RNA-associated) 639 rRNA processing condensed nuclear chromosome|nucleolus RNA binding endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2) 27 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.152) ATCCAGGGGGCCCCCCACATA 0.517 OREG0019137 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 2601 --- --- --- --- ROR2 4920 broad.mit.edu 37 9 94486026 94486028 + In_Frame_Del DEL TCC TCC - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr9:94486026_94486028delTCC ENST00000375708.3 - 9 2946_2948 c.2748_2750delGGA c.(2746-2751)gaa>ga p.EE916del ROR2_ENST00000375715.1_Intron|ROR2_ENST00000550066.1_5'UTR NM_004560.3 NP_004551.2 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 916 negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 GACAGAGCCTTCCTCCTCCTCCT 0.645 7 782 --- --- --- --- ANKRD19P 0 broad.mit.edu 37 9 95599088 95599089 + RNA DEL CA CA - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr9:95599088_95599089delCA ENST00000473204.1 + 0 1169_1170 TTCACGGGCGCACACACACACA 0.421 8 474 --- --- --- --- HABP4 22927 broad.mit.edu 37 9 99250415 99250416 + Frame_Shift_Ins INS - - C TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr9:99250415_99250416insC ENST00000375249.4 + 7 1119_1120 c.1044_1045insC c.(1042-1047)aaccgcfs p.R349fs HABP4_ENST00000375251.3_Frame_Shift_Ins_p.R244fs|HABP4_ENST00000466976.1_3'UTR NM_014282.2 NP_055097.2 Q5JVS0 HABP4_HUMAN hyaluronan binding protein 4 349 platelet activation|platelet degranulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|extracellular region|nucleus protein binding NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 13 Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214) TTTTCCGGAAACCCGCCAATGA 0.530 23 819 --- --- --- --- PALM2-AKAP2 0 broad.mit.edu 37 9 112899370 112899372 + In_Frame_Del DEL CAG CAG - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr9:112899370_112899372delCAG ENST00000374530.3 + 8 1726_1728 c.1546_1548delCAG c.(1546-1548)del p.Q521del AKAP2_ENST00000374525.1_In_Frame_Del_p.Q379del|AKAP2_ENST00000259318.7_In_Frame_Del_p.Q290del|AKAP2_ENST00000555236.1_In_Frame_Del_p.Q521del|AKAP2_ENST00000510514.5_In_Frame_Del_p.Q521del|PALM2-AKAP2_ENST00000302798.7_In_Frame_Del_p.Q521del|AKAP2_ENST00000434623.2_In_Frame_Del_p.Q379del NM_007203.4|NM_147150.2 NP_009134.1|NP_671492.1 Q9Y2D5 AKAP2_HUMAN 290 enzyme binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 44 gaagcagttacagcagcagcagc 0.552 7 208 --- --- --- --- KIAA1462 57608 broad.mit.edu 37 10 30316501 30316503 + In_Frame_Del DEL CTG CTG - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr10:30316501_30316503delCTG ENST00000375377.1 - 3 2675_2677 c.2574_2576delCAG c.(2572-2577)agt>ag p.SS858del NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 858 Ser-rich. breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 ACTCTCCTCActgctgctgctgc 0.571 23 641 --- --- --- --- ERCC6 2074 broad.mit.edu 37 10 50678321 50678321 + Frame_Shift_Del DEL T T - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr10:50678321delT ENST00000355832.5 - 18 3763 c.3685delA c.(3685-3687)ggfs p.R1230fs ERCC6_ENST00000465653.1_5'UTR|RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000542458.1_Frame_Shift_Del_p.R600fs NM_000124.2 NP_000115.1 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6 1230 R -> P (in dbSNP:rs4253211). base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 TGGTAACGCCTTTTCTTCACC 0.428 Direct reversal of damage;Nucleotide excision repair (NER) 7 2341 --- --- --- --- PCDH15 65217 broad.mit.edu 37 10 55587198 55587200 + In_Frame_Del DEL GGC GGC - rs12246234 TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr10:55587198_55587200delGGC ENST00000373965.2 - 33 4735_4737 c.4341_4343delGCC c.(4339-4344)cct>cc p.PP1449del PCDH15_ENST00000395430.1_In_Frame_Del_p.PP1439del|PCDH15_ENST00000320301.6_In_Frame_Del_p.PP1442del|PCDH15_ENST00000414778.1_In_Frame_Del_p.PP1444del|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000361849.3_In_Frame_Del_p.PP1442del|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000437009.1_In_Frame_Del_p.PP1371del|PCDH15_ENST00000395445.1_In_Frame_Del_p.PP1449del|PCDH15_ENST00000395438.1_In_Frame_Del_p.PP1442del|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395432.2_In_Frame_Del_p.PP1402del|PCDH15_ENST00000395433.1_In_Frame_Del_p.PP1417del|PCDH15_ENST00000409834.1_In_Frame_Del_p.PP1053del NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1442 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) ACCTggcggaggcggcggcggcg 0.571 HNSCC(58;0.16) 8 710 --- --- --- --- TBC1D12 23232 broad.mit.edu 37 10 96281817 96281817 + Frame_Shift_Del DEL T T - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr10:96281817delT ENST00000225235.4 + 10 1977 c.1867delT c.(1867-1869)ttfs p.F624fs TBC1D12_ENST00000485048.1_Intron NM_015188.1 NP_056003.1 O60347 TBC12_HUMAN TBC1 domain family, member 12 624 Rab-GAP TBC. intracellular Rab GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2) 20 Colorectal(252;0.0429) CCAGTTGGCCTTTTTTCGTGT 0.418 8 828 --- --- --- --- ABCC2 1244 broad.mit.edu 37 10 101559000 101559000 + Frame_Shift_Del DEL A A - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 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 1557 --- --- --- --- LZTS2 84445 broad.mit.edu 37 10 102763415 102763417 + In_Frame_Del DEL CCT CCT - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr10:102763415_102763417delCCT ENST00000370220.1 + 2 3623_3625 c.560_562delCCT c.(559-564)gcc>g p.AS187del LZTS2_ENST00000370223.3_In_Frame_Del_p.AS187del Q9BRK4 LZTS2_HUMAN leucine zipper, putative tumor suppressor 2 187 Required for centrosomal localization (By similarity). cell division|mitosis|Wnt receptor signaling pathway membrane|microtubule|microtubule organizing center breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 Epithelial(162;7.3e-09)|all cancers(201;3.72e-07) GGGGGCCCTGcctcctcctcctc 0.650 16 1579 --- --- --- --- NOLC1 9221 broad.mit.edu 37 10 103919000 103919002 + In_Frame_Del DEL AGC AGC - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr10:103919000_103919002delAGC ENST00000405356.1 + 6 893_895 c.658_660delAGC c.(658-660)del p.S227del NOLC1_ENST00000605788.1_In_Frame_Del_p.S227del|NOLC1_ENST00000603742.1_5'UTR|NOLC1_ENST00000488254.2_In_Frame_Del_p.S228del Q14978 NOLC1_HUMAN nucleolar and coiled-body phosphoprotein 1 227 11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194. mitosis|rRNA processing cytoplasm|nucleolus ATP binding|GTP binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 31 Colorectal(252;0.122) Epithelial(162;5.19e-08)|all cancers(201;9.43e-07) tagcagcagtagcagcagcagca 0.517 14 1051 --- --- --- --- SLK 9748 broad.mit.edu 37 10 105727547 105727549 + In_Frame_Del DEL AGA AGA - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr10:105727547_105727549delAGA ENST00000369755.3 + 1 589_591 c.44_46delAGA c.(43-48)gag>g p.EK15del SLK_ENST00000335753.4_In_Frame_Del_p.EK15del NM_014720.2 NP_055535.2 Q9H2G2 SLK_HUMAN STE20-like kinase 15 apoptosis|nucleotide-excision repair cytoplasm|plasma membrane ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2) 8 Colorectal(252;0.178) Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) TTGGGGAGCGAGAAGAAGAAGAA 0.448 9 732 --- --- --- --- GRK5 2869 broad.mit.edu 37 10 121189900 121189900 + Frame_Shift_Del DEL A A - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr10:121189900delA ENST00000392870.2 + 7 876 c.547delA c.(547-549)aafs p.K183fs GRK5_ENST00000369108.3_Frame_Shift_Del_p.K78fs NM_005308.2 NP_005299.1 P34947 GRK5_HUMAN G protein-coupled receptor kinase 5 183 N-terminal. G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway cytoplasm|plasma membrane|soluble fraction ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1) 27 Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249) all cancers(201;0.0227) ACCGGTGACCAAAAACACTTT 0.483 8 996 --- --- --- --- CPXM2 119587 broad.mit.edu 37 10 125528165 125528167 + In_Frame_Del DEL CAG CAG - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr10:125528165_125528167delCAG ENST00000241305.3 - 9 1328_1330 c.1174_1176delCTG c.(1174-1176)del p.L392del CPXM2_ENST00000368854.3_5'UTR NM_198148.2 NP_937791.2 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 392 Poly-Leu. cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) CGAACTGCACCAGCAGCAGCAGC 0.626 14 1371 --- --- --- --- UBQLN3 50613 broad.mit.edu 37 11 5529918 5529920 + In_Frame_Del DEL TGG TGG - rs2234451 byFrequency TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr11:5529918_5529920delTGG ENST00000311659.4 - 2 1016_1018 c.869_871delCCA c.(868-873)agc>a p.TS290del HBG2_ENST00000380259.2_Intron NM_017481.2 NP_059509.1 Q9H347 UBQL3_HUMAN ubiquilin 3 290 T -> S (in dbSNP:rs2234451). NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAAGGTTGGCTGGTGGTGGTGGT 0.537 17 888 --- --- --- --- APBB1 322 broad.mit.edu 37 11 6432090 6432092 + In_Frame_Del DEL TCC TCC - rs145320037 TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr11:6432090_6432092delTCC ENST00000389906.2 - 2 585_587 c.486_488delGGA c.(484-489)gat>ga p.ED162del APBB1_ENST00000311051.3_In_Frame_Del_p.ED162del|APBB1_ENST00000533407.1_Intron|APBB1_ENST00000299402.6_In_Frame_Del_p.ED162del NM_001257325.1 NP_001244254.1 O00213 APBB1_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) 162 Glu-rich. apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding p.E162D(1) breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1) 24 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) atcatcatcatcctcctcctcct 0.635 8 288 --- --- --- --- AMPD3 272 broad.mit.edu 37 11 10500145 10500145 + Frame_Shift_Del DEL C C - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr11:10500145delC ENST00000396554.3 + 3 662 c.321delC c.(319-321)ggfs p.G107fs AMPD3_ENST00000444303.2_Intron NM_000480.2 NP_000471.1 Q01432 AMPD3_HUMAN adenosine monophosphate deaminase 3 98 AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1) 25 all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291) ATTGGAAGGGCCCCCCGGCAG 0.582 9 1956 --- --- --- --- TNKS1BP1 85456 broad.mit.edu 37 11 57076529 57076529 + Frame_Shift_Del DEL C C - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr11:57076529delC ENST00000532437.1 - 5 3967 c.3656delG c.(3655-3657)gafs p.G1219fs TNKS1BP1_ENST00000358252.3_Frame_Shift_Del_p.G1219fs Q9C0C2 TB182_HUMAN tankyrase 1 binding protein 1, 182kDa 1219 Acidic.|Gly-rich. nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding p.G1219E(1) breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_epithelial(135;0.21) AACTCCGATTCCCCCCGGCTC 0.582 7 2180 --- --- --- --- RPLP0P2 0 broad.mit.edu 37 11 61405017 61405019 + RNA DEL CTG CTG - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr11:61405017_61405019delCTG ENST00000496593.1 + 0 1621_1623 NR_002775.2 acagctgctcctgctgctgctgc 0.557 7 253 --- --- --- --- MYRF 745 broad.mit.edu 37 11 61539013 61539013 + Frame_Shift_Del DEL C C - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr11:61539013delC ENST00000278836.5 + 6 878 c.782delC c.(781-783)tcfs p.S261fs MYRF_ENST00000265460.5_Frame_Shift_Del_p.S252fs|TMEM258_ENST00000535042.1_Intron NM_001127392.1 NP_001120864.1 myelin regulatory factor p.S255fs*74(1) CACTCTGAATCCCCCCCCAGC 0.637 11 1051 --- --- --- --- PRDX5 25824 broad.mit.edu 37 11 64088369 64088370 + Frame_Shift_Ins INS - - G TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr11:64088369_64088370insG ENST00000265462.4 + 4 599_600 c.471_472insG c.(469-474)ttggaafs p.E158fs PRDX5_ENST00000347941.4_Frame_Shift_Ins_p.E69fs|PRDX5_ENST00000352435.4_Frame_Shift_Ins_p.E114fs NM_012094.4 NP_036226.1 P30044 PRDX5_HUMAN peroxiredoxin 5 158 Thioredoxin. cell redox homeostasis|cellular response to reactive oxygen species|inflammatory response|negative regulation of apoptosis cytosolic part|mitochondrion|peroxisome caspase inhibitor activity|peroxidase activity|peroxiredoxin activity breast(1)|kidney(1)|lung(1)|skin(1) 4 Auranofin(DB00995) CTGGGGCCTTTGGGAAGGTGAG 0.574 19 1204 --- --- --- --- FAU 2197 broad.mit.edu 37 11 64888248 64888250 + In_Frame_Del DEL TCT TCT - rs1065065 TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr11:64888248_64888250delTCT ENST00000529639.1 - 5 696_698 c.305_307delAGA c.(304-309)aca>a p.KT102del FAU_ENST00000531743.1_In_Frame_Del_p.KT102del|FAU_ENST00000527548.1_In_Frame_Del_p.KT102del|FAU_ENST00000529259.1_3'UTR|FAU_ENST00000525297.1_In_Frame_Del_p.KT67del|FAU_ENST00000279259.3_In_Frame_Del_p.ED83del NM_001997.4 NP_001988.1 P35544 UBIM_HUMAN Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously expressed 0 NS(3)|kidney(1)|large_intestine(2) 6 GCCCGACCTGTCTTCTTCTTCTT 0.542 7 921 --- --- --- --- PAK1 5058 broad.mit.edu 37 11 77069990 77069992 + In_Frame_Del DEL CAT CAT - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr11:77069990_77069992delCAT ENST00000356341.3 - 6 1079_1081 c.548_550delATG c.(547-552)gct>g p.DA183del PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000528203.1_In_Frame_Del_p.DA85del|PAK1_ENST00000278568.4_In_Frame_Del_p.DA183del|PAK1_ENST00000530617.1_In_Frame_Del_p.DA183del NM_002576.4 NP_002567.3 Q13153 PAK1_HUMAN p21 protein (Cdc42/Rac)-activated kinase 1 183 Interaction with CRIPAK. apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway cytosol|focal adhesion|Golgi apparatus ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1) 29 all_cancers(14;1.75e-18) GGTGGGGTAGcatcatcatcatc 0.478 16 848 --- --- --- --- KMT2A 4297 broad.mit.edu 37 11 118375915 118375915 + Frame_Shift_Del DEL A A - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr11:118375915delA ENST00000534358.1 + 27 9331 c.9308delA c.(9307-9309)cafs p.Q3103fs KMT2A_ENST00000389506.5_Frame_Shift_Del_p.Q3100fs|KMT2A_ENST00000354520.4_Frame_Shift_Del_p.Q3062fs NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A GGAGTGACCCAAAAAATCCAA 0.463 7 1456 --- --- --- --- PVRL1 5818 broad.mit.edu 37 11 119535678 119535680 + In_Frame_Del DEL CCT CCT - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr11:119535678_119535680delCCT ENST00000264025.3 - 6 1861_1863 c.1331_1333delAGG c.(1330-1335)ggc>g p.EG444del PVRL1_ENST00000341398.2_Intron NM_002855.4 NP_002846.3 Q15223 PVRL1_HUMAN poliovirus receptor-related 1 (herpesvirus entry mediator C) 444 Poly-Glu. adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response cell-cell adherens junction|extracellular region|integral to membrane cell adhesion molecule binding|coreceptor activity|protein homodimerization activity p.E444fs*>73(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.29e-05) CCTCCACCGCcctcctcctcctc 0.660 8 240 --- --- --- --- ROBO3 64221 broad.mit.edu 37 11 124745490 124745491 + Frame_Shift_Ins INS - - G rs140619532 by1000genomes TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr11:124745490_124745491insG ENST00000397801.1 + 15 2522_2523 c.2330_2331insG c.(2329-2331)ggcfs p.G777fs ROBO3_ENST00000538940.1_Frame_Shift_Ins_p.G755fs NM_022370.3 NP_071765.2 Q96MS0 ROBO3_HUMAN roundabout, axon guidance receptor, homolog 3 (Drosophila) 777 Fibronectin type-III 3. axon midline choice point recognition integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 35 all_hematologic(175;0.215) Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296) GGAGTGGCGGTGGCCTTGGGGG 0.604 12 160 --- --- --- --- PRDM10 56980 broad.mit.edu 37 11 129772249 129772251 + In_Frame_Del DEL TGG TGG - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr11:129772249_129772251delTGG ENST00000358825.5 - 22 3671_3673 c.3440_3442delCCA c.(3439-3444)aac>a p.TN1147del PRDM10_ENST00000423662.2_In_Frame_Del_p.TN1048del|PRDM10_ENST00000526082.1_In_Frame_Del_p.TN1061del|PRDM10_ENST00000304538.6_In_Frame_Del_p.TN1010del|PRDM10_ENST00000360871.3_In_Frame_Del_p.TN1143del|PRDM10_ENST00000528746.1_In_Frame_Del_p.TN1104del NM_020228.2 NP_064613.2 Q9NQV6 PRD10_HUMAN PR domain containing 10 1134 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2) 48 all_hematologic(175;0.0537) Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185) CCGTTCCCGTTGGTGGTGGTGGT 0.547 7 1220 --- --- --- --- IFFO1 25900 broad.mit.edu 37 12 6649704 6649706 + In_Frame_Del DEL GGC GGC - rs144019095 TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr12:6649704_6649706delGGC ENST00000436152.2 - 11 1273_1275 c.714_716delGCC c.(712-717)cca>cc p.PP238del IFFO1_ENST00000396840.2_In_Frame_Del_p.PP541del|IFFO1_ENST00000465801.1_In_Frame_Del_p.PP237del|IFFO1_ENST00000356896.4_In_Frame_Del_p.PP545del|IFFO1_ENST00000336604.4_In_Frame_Del_p.PP544del Q0D2I5 IFFO1_HUMAN intermediate filament family orphan 1 541 intermediate filament central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 20 AGCCTCGCTTGGCGGCGGCGGCG 0.601 7 452 --- --- --- --- CASC1 55259 broad.mit.edu 37 12 25314066 25314068 + In_Frame_Del DEL CTC CTC - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr12:25314066_25314068delCTC ENST00000354189.5 - 3 294_296 c.259_261delGAG c.(259-261)del p.E87del CASC1_ENST00000557684.1_5'UTR|CASC1_ENST00000545133.1_Intron|CASC1_ENST00000537577.1_5'UTR|CASC1_ENST00000395987.3_In_Frame_Del_p.E29del|CASC1_ENST00000395990.2_5'UTR|CASC1_ENST00000320267.9_In_Frame_Del_p.E23del NM_001082972.1 NP_001076441.1 Q6TDU7 CASC1_HUMAN cancer susceptibility candidate 1 23 Glu-rich. breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11) OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13) TCAGTCGTCTCTCCTCCTCCTCT 0.365 7 1702 --- --- --- --- SCAF11 9169 broad.mit.edu 37 12 46318575 46318577 + In_Frame_Del DEL GGT GGT - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr12:46318575_46318577delGGT ENST00000465950.1 - 2 4104_4106 c.2895_2897delACC c.(2893-2898)ccc>cc p.PP969del SCAF11_ENST00000369367.3_In_Frame_Del_p.PP1284del|SCAF11_ENST00000419565.2_In_Frame_Del_p.PP1284del|SCAF11_ENST00000549162.1_In_Frame_Del_p.PP1092del Q99590 SCAFB_HUMAN SR-related CTD-associated factor 11 1284 Arg-rich. spliceosome assembly nucleus protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 69 TGGGGGAGGGGGTGGTGGTGGTG 0.483 9 601 --- --- --- --- TUBA1A 7846 broad.mit.edu 37 12 49580272 49580274 + In_Frame_Del DEL GGA GGA - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr12:49580272_49580274delGGA ENST00000546918.1 - 2 432_434 c.346_348delTCC c.(346-348)del p.S116del TUBA1A_ENST00000295766.5_Intron|TUBA1A_ENST00000301071.7_Intron|TUBA1A_ENST00000550767.1_Intron Q71U36 TBA1A_HUMAN tubulin, alpha 1a 0 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization cytosol|microtubule GTP binding|GTPase activity|structural molecule activity stomach(1)|upper_aerodigestive_tract(1) 2 ggagcaggggggaggaggaggag 0.621 8 535 --- --- --- --- OR10A7 121364 broad.mit.edu 37 12 55615114 55615116 + In_Frame_Del DEL CTT CTT - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr12:55615114_55615116delCTT ENST00000326258.1 + 1 306_308 c.306_308delCTT c.(304-309)tac>ta p.YF102del NM_001005280.1 NP_001005280.1 Q8NGE5 O10A7_HUMAN olfactory receptor, family 10, subfamily A, member 7 102 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3) 24 CCCAGATGTACTTCTTCTTCTTC 0.414 7 1308 --- --- --- --- OR6C75 390323 broad.mit.edu 37 12 55759192 55759192 + Frame_Shift_Del DEL T T - rs75456529 TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr12:55759192delT ENST00000343399.3 + 1 298 c.298delT c.(298-300)ttfs p.F102fs NM_001005497.1 NP_001005497.1 A6NL08 O6C75_HUMAN olfactory receptor, family 6, subfamily C, member 75 102 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2) 25 GGCTCAGCTATTTTTTTTCAT 0.438 16 871 --- --- --- --- OR6C75 390323 broad.mit.edu 37 12 55759486 55759486 + Frame_Shift_Del DEL T T - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr12:55759486delT ENST00000343399.3 + 1 592 c.592delT c.(592-594)ttfs p.F199fs NM_001005497.1 NP_001005497.1 A6NL08 O6C75_HUMAN olfactory receptor, family 6, subfamily C, member 75 199 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L200fs*1(1) endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2) 25 ACTCATGGCATTTTTTTTAGC 0.393 7 577 --- --- --- --- SMARCC2 6601 broad.mit.edu 37 12 56559113 56559113 + Frame_Shift_Del DEL G G - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr12:56559113delG ENST00000394023.3 - 27 3326 c.3221delC c.(3220-3222)ctfs p.P1074fs SMARCC2_ENST00000347471.4_Frame_Shift_Del_p.P1074fs|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000267064.4_Frame_Shift_Del_p.P1043fs|SMARCC2_ENST00000550164.1_Frame_Shift_Del_p.P1074fs NM_001130420.1 NP_001123892.1 Q8TAQ2 SMRC2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 1043 Pro-rich. chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex DNA binding|protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(18;0.123) ATGGGGTCCAGGGGGGGGAAC 0.577 10 714 --- --- --- --- LRP1 4035 broad.mit.edu 37 12 57605740 57605742 + In_Frame_Del DEL TGC TGC - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr12:57605740_57605742delTGC ENST00000243077.3 + 87 13755_13757 c.13289_13291delTGC c.(13288-13293)ttg>t p.LL4432del NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 4432 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CCTCTGCTGTTGCTGCTGCTGCT 0.557 7 898 --- --- --- --- DPY19L2 283417 broad.mit.edu 37 12 64061890 64061890 + Frame_Shift_Del DEL T T - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr12:64061890delT ENST00000324472.4 - 1 467 c.284delA c.(283-285)agfs p.K95fs RP11-415I12.3_ENST00000509615.2_RNA NM_173812.4 NP_776173.3 Q6NUT2 D19L2_HUMAN dpy-19-like 2 (C. elegans) 95 multicellular organismal development|spermatid development integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(1;2.77e-05) GBM - Glioblastoma multiforme(28;0.044) TTCCTGCACCTTTTCCCGGAG 0.612 8 1408 --- --- --- --- PTPRB 0 broad.mit.edu 37 12 70954544 70954545 + Frame_Shift_Ins INS - - C TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr12:70954544_70954545insC ENST00000334414.6 - 17 4382_4383 c.4338_4339insG c.(4336-4341)cgttcafs p.S1447fs PTPRB_ENST00000261266.5_Frame_Shift_Ins_p.S1229fs|PTPRB_ENST00000538708.1_Frame_Shift_Ins_p.S1139fs|PTPRB_ENST00000551525.1_Frame_Shift_Ins_p.S1446fs|PTPRB_ENST00000550358.1_Frame_Shift_Ins_p.S1359fs|PTPRB_ENST00000451516.2_Frame_Shift_Ins_p.S1139fs|PTPRB_ENST00000550857.1_Frame_Shift_Ins_p.S1139fs NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1229 angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) AGGCCTTGAAACCGCCACTCCG 0.490 10 327 --- --- --- --- TMEM19 55266 broad.mit.edu 37 12 72094757 72094757 + Frame_Shift_Del DEL T T - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr12:72094757delT ENST00000266673.5 + 6 1587 c.993delT c.(991-993)ggfs p.G331fs NM_018279.3 NP_060749.2 Q96HH6 TMM19_HUMAN transmembrane protein 19 331 integral to membrane large_intestine(1)|lung(8) 9 Breast(359;0.0889) GBM - Glioblastoma multiforme(134;0.044) CTGCTTGGGGTTTTTGGCCCA 0.433 9 1235 --- --- --- --- DDX55 57696 broad.mit.edu 37 12 124103201 124103202 + Translation_Start_Site DEL TG TG - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr12:124103201_124103202delTG ENST00000421670.3 + 0 639_640 DDX55_ENST00000238146.4_Intron|DDX55_ENST00000538744.1_Intron|DDX55_ENST00000541259.1_Intron Q8NHQ9 DDX55_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 55 ATP binding|ATP-dependent helicase activity|RNA binding autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772) GAATGTGGTATGTGTGTGTGTG 0.520 OREG0022230 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 321 --- --- --- --- NCOR2 9612 broad.mit.edu 37 12 124848228 124848228 + Frame_Shift_Del DEL G G - rs12321697 TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr12:124848228delG ENST00000356219.3 - 22 3080 c.2925delC c.(2923-2925)ccfs p.P975fs NCOR2_ENST00000404121.2_Frame_Shift_Del_p.P528fs|NCOR2_ENST00000405201.1_Frame_Shift_Del_p.P975fs|NCOR2_ENST00000404621.1_Frame_Shift_Del_p.P957fs|NCOR2_ENST00000397355.1_Frame_Shift_Del_p.P958fs|NCOR2_ENST00000429285.2_Frame_Shift_Del_p.P957fs NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 975 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) CACTCACGATGGGGGGGATGG 0.652 12 1520 --- --- --- --- TPTE2 93492 broad.mit.edu 37 13 20041394 20041394 + Frame_Shift_Del DEL A A - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr13:20041394delA ENST00000400230.2 - 7 527 c.483delT c.(481-483)ttfs p.F161fs TPTE2_ENST00000382977.4_Frame_Shift_Del_p.F161fs|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000382975.4_Intron|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382978.1_Intron|TPTE2_ENST00000400103.2_Intron Q6XPS3 TPTE2_HUMAN transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 161 endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) ACTTAATGTCAAAAAAAATGT 0.303 7 381 --- --- --- --- WASF3 10810 broad.mit.edu 37 13 27250862 27250863 + Splice_Site DEL GT GT - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr13:27250862_27250863delGT ENST00000335327.5 + 7 894 c.e7+1 WASF3_ENST00000361042.4_Intron NM_006646.5 NP_006637.2 Q9UPY6 WASF3_HUMAN WAS protein family, member 3 actin filament polymerization cytoplasm|cytoskeleton actin binding breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2) 22 Colorectal(5;0.000247) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155) CAGATACTAGGTGTGTGTGTGT 0.475 7 488 --- --- --- --- RFC3 5983 broad.mit.edu 37 13 34398063 34398063 + Frame_Shift_Del DEL A A - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr13:34398063delA ENST00000380071.3 + 3 365 c.235delA c.(235-237)aafs p.K81fs RFC3_ENST00000434425.1_Frame_Shift_Del_p.K81fs NM_002915.3 NP_002906.1 P40938 RFC3_HUMAN replication factor C (activator 1) 3, 38kDa 81 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|response to organophosphorus|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|protein binding lung(2)|skin(1) 3 Hepatocellular(188;0.0191)|Lung SC(185;0.0548) all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123) GACTCCATCTAAAAAAAAAAT 0.269 7 116 --- --- --- --- DIAPH3 81624 broad.mit.edu 37 13 60582733 60582734 + Frame_Shift_Ins INS - - T TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 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_ENST00000465066.1_5'UTR|DIAPH3_ENST00000267215.4_Frame_Shift_Ins_p.*320fs|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 20 882 --- --- --- --- FARP1 10160 broad.mit.edu 37 13 99092237 99092237 + Frame_Shift_Del DEL G G - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr13:99092237delG ENST00000376586.2 + 23 2885 c.2549delG c.(2548-2550)tgfs p.W850fs FARP1_ENST00000595437.1_Frame_Shift_Del_p.W850fs|FARP1_ENST00000319562.6_Frame_Shift_Del_p.W819fs Q9Y4F1 FARP1_HUMAN FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) 819 PH 1. regulation of Rho protein signal transduction cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1) 49 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) GAAGACGAGTGGGGGGTGCCC 0.617 7 2223 --- --- --- --- CHD8 57680 broad.mit.edu 37 14 21883981 21883983 + In_Frame_Del DEL TCT TCT - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr14:21883981_21883983delTCT ENST00000399982.2 - 5 1864_1866 c.1800_1802delAGA c.(1798-1803)gag>ga p.EE600del CHD8_ENST00000557364.1_In_Frame_Del_p.EE600del|CHD8_ENST00000430710.3_In_Frame_Del_p.EE321del|CHD8_ENST00000555962.1_Intron NM_001170629.1 NP_001164100.1 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 600 ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 85 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) TACATCCACCTCTTCTTCTTCTT 0.433 7 812 --- --- --- --- CHD8 57680 broad.mit.edu 37 14 21896304 21896304 + Frame_Shift_Del DEL C C - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr14:21896304delC ENST00000399982.2 - 3 1389 c.1325delG c.(1324-1326)gafs p.G442fs CHD8_ENST00000557364.1_Frame_Shift_Del_p.G442fs|CHD8_ENST00000430710.3_Frame_Shift_Del_p.G163fs|CHD8_ENST00000555962.1_Intron NM_001170629.1 NP_001164100.1 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 442 ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 85 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) TCCTGTCTTTCCCCCCGAATG 0.537 7 1294 --- --- --- --- TRAC 0 broad.mit.edu 37 14 23020941 23020942 + RNA INS - - T TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr14:23020941_23020942insT ENST00000478163.3 + 0 818_819 TGAGGGGTTTATTTTTTTTTAA 0.470 8 280 --- --- --- --- RP11-407N17.3 0 broad.mit.edu 37 14 39746242 39746243 + Frame_Shift_Ins INS - - T rs75842899 byFrequency TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr14:39746242_39746243insT ENST00000553728.1 + 6 1986_1987 c.1773_1774insT c.(1771-1776)ctttttfs p.LF591fs RP11-407N17.3_ENST00000603904.1_Frame_Shift_Ins_p.LF27fs|CTAGE5_ENST00000556148.1_Intron|CTAGE5_ENST00000280083.3_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000341749.3_Frame_Shift_Ins_p.LF44fs|CTAGE5_ENST00000396158.2_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000553352.1_Frame_Shift_Ins_p.LF27fs|CTAGE5_ENST00000341502.5_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000396165.4_Frame_Shift_Ins_p.LF27fs|CTAGE5_ENST00000348007.3_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000557038.1_5'UTR TTGCTGTTCTCTTTTTTTTGTG 0.371 10 424 --- --- --- --- MIS18BP1 55320 broad.mit.edu 37 14 45693722 45693722 + Frame_Shift_Del DEL T T - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 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 20 734 --- --- --- --- DAAM1 23002 broad.mit.edu 37 14 59787235 59787237 + In_Frame_Del DEL GAA GAA - rs141935137 TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr14:59787235_59787237delGAA ENST00000395125.1 + 4 396_398 c.373_375delGAA c.(373-375)del p.E129del DAAM1_ENST00000351081.1_In_Frame_Del_p.E129del|DAAM1_ENST00000360909.3_In_Frame_Del_p.E129del NM_014992.2 NP_055807.1 Q9Y4D1 DAAM1_HUMAN dishevelled associated activator of morphogenesis 1 129 GBD/FH3. actin cytoskeleton organization cytoplasm|plasma membrane actin binding|Rho GTPase binding breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(108;0.165) TTTAGAGAAGGAAGAAGAAGAAG 0.325 7 482 --- --- --- --- FOXN3 1112 broad.mit.edu 37 14 89629149 89629151 + In_Frame_Del DEL GAG GAG - rs139532153 TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 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_ENST00000555353.1_In_Frame_Del_p.SS338del|FOXN3_ENST00000557258.1_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 8 332 --- --- --- --- BTBD7 55727 broad.mit.edu 37 14 93712186 93712188 + In_Frame_Del DEL TGC TGC - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr14:93712186_93712188delTGC ENST00000334746.5 - 10 2873_2875 c.2566_2568delGCA c.(2566-2568)del p.A856del BTBD7_ENST00000393170.2_In_Frame_Del_p.A430del|BTBD7_ENST00000554565.1_In_Frame_Del_p.A505del 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 8 288 --- --- --- --- DDX24 57062 broad.mit.edu 37 14 94545821 94545823 + In_Frame_Del DEL CCT CCT - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr14:94545821_94545823delCCT ENST00000330836.5 - 2 397_399 c.266_268delAGG c.(265-270)gga>g p.EG89del DDX24_ENST00000555054.1_In_Frame_Del_p.EG46del|DDX24_ENST00000544005.1_Intron NM_020414.3 NP_065147.1 Q9GZR7 DDX24_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 24 89 Poly-Glu. RNA metabolic process cytoplasm|nucleolus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1) 23 all_cancers(154;0.12) Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207) CTAGACTTTCCCTCCTCCTCCTC 0.443 9 787 --- --- --- --- SYNE3 161176 broad.mit.edu 37 14 95921888 95921890 + In_Frame_Del DEL CTC CTC - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr14:95921888_95921890delCTC ENST00000334258.5 - 5 975_977 c.961_963delGAG c.(961-963)del p.E321del SYNE3_ENST00000554873.1_In_Frame_Del_p.E78del|SYNE3_ENST00000557275.1_In_Frame_Del_p.E321del|SYNE3_ENST00000553340.1_In_Frame_Del_p.E321del NM_152592.3 NP_689805.3 spectrin repeat containing, nuclear envelope family member 3 breast(1)|endometrium(2)|lung(25) 28 CCCGCAGCCGCTCCTCCTCCTCC 0.616 11 918 --- --- --- --- BEGAIN 57596 broad.mit.edu 37 14 101005271 101005273 + In_Frame_Del DEL CCT CCT - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr14:101005271_101005273delCCT ENST00000556751.1 - 5 4027_4029 c.623_625delAGG c.(622-627)gcc>g p.EA210del BEGAIN_ENST00000443071.2_In_Frame_Del_p.EA274del|BEGAIN_ENST00000355173.2_In_Frame_Del_p.EA274del Q9BUH8 BEGIN_HUMAN brain-enriched guanylate kinase-associated 274 cytoplasm|membrane protein binding cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1) 14 Melanoma(154;0.212) GCCGCCTCGGCCTCCTCCTCCTC 0.724 9 231 --- --- --- --- GOLGA8DP 0 broad.mit.edu 37 15 22709277 22709278 + RNA INS - - A TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr15:22709277_22709278insA ENST00000314246.8 - 0 1157 CTCTGGATTCCAaaaaaaaaag 0.515 13 191 --- --- --- --- SNHG14 0 broad.mit.edu 37 15 25456925 25456925 + RNA DEL G G - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr15:25456925delG ENST00000424208.1 + 0 2516 SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA NR_003305.1 TGTGTGGGCAGGGGGGGTGCC 0.557 15 1551 --- --- --- --- SNHG14 0 broad.mit.edu 37 15 25463747 25463747 + RNA DEL G G - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr15:25463747delG ENST00000424208.1 + 0 2994 SNHG14_ENST00000453082.2_RNA NR_003305.1 TGTGCGGGAAGGGGGGTGCCC 0.547 8 1833 --- --- --- --- EIF2AK4 440275 broad.mit.edu 37 15 40282508 40282508 + Frame_Shift_Del DEL T T - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr15:40282508delT ENST00000263791.5 + 16 2604 c.2561delT c.(2560-2562)atfs p.I854fs EIF2AK4_ENST00000382727.2_Frame_Shift_Del_p.I826fs NM_001013703.2 NP_001013725.2 Q9P2K8 E2AK4_HUMAN eukaryotic translation initiation factor 2 alpha kinase 4 854 Protein kinase 2. translation cytosolic ribosome aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1) 40 all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616) CCTGTCAACATTTTTTTGGAT 0.358 7 1496 --- --- --- --- MGA 23269 broad.mit.edu 37 15 42003383 42003385 + In_Frame_Del DEL CAG CAG - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr15:42003383_42003385delCAG ENST00000219905.7 + 8 3101_3103 c.2920_2922delCAG c.(2920-2922)del p.Q981del MGA_ENST00000566586.1_In_Frame_Del_p.Q981del|MGA_ENST00000570161.1_In_Frame_Del_p.Q981del|MGA_ENST00000389936.4_In_Frame_Del_p.Q981del|MGA_ENST00000545763.1_In_Frame_Del_p.Q981del NM_001164273.1 NP_001157745.1 Q8IWI9 MGAP_HUMAN MGA, MAX dimerization protein 981 Gln-rich. MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) GCGGCAGGCACAGCAGCAGCAGC 0.458 8 551 --- --- --- --- CGNL1 84952 broad.mit.edu 37 15 57744359 57744360 + Frame_Shift_Del DEL AG AG - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr15:57744359_57744360delAG ENST00000281282.5 + 6 2004_2005 c.1926_1927delAG c.(1924-1929)gaagfs p.EE642fs NM_001252335.1|NM_032866.4 NP_001239264.1|NP_116255.2 Q0VF96 CGNL1_HUMAN cingulin-like 1 642 myosin complex|tight junction motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1) 60 all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186) ACATTAAAGAAGAGAGAGAGAG 0.441 7 392 --- --- --- --- FAM63B 54629 broad.mit.edu 37 15 59144132 59144134 + In_Frame_Del DEL GCT GCT - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr15:59144132_59144134delGCT ENST00000559228.1 + 8 1787_1789 c.1705_1707delGCT c.(1705-1707)del p.A574del FAM63B_ENST00000450403.2_In_Frame_Del_p.A574del Q8NBR6 FA63B_HUMAN family with sequence similarity 63, member B 574 Gln-rich. central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 15 ACAAGCAGCAGCTGCTGCTGCTG 0.468 8 721 --- --- --- --- SLTM 79811 broad.mit.edu 37 15 59182564 59182565 + Frame_Shift_Del DEL CT CT - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr15:59182564_59182565delCT ENST00000380516.2 - 15 2081_2082 c.1994_1995delAG c.(1993-1995)gfs p.E665fs AC025918.2_ENST00000452467.1_RNA|SLTM_ENST00000536328.1_Frame_Shift_Del_p.E234fs NM_001013843.1|NM_024755.2 NP_001013865.1|NP_079031.2 Q9NWH9 SLTM_HUMAN SAFB-like, transcription modulator 665 Arg/Glu-rich. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 TTTCTAGGCGCTCTCTCTCTCT 0.475 26 909 --- --- --- --- NARG2 79664 broad.mit.edu 37 15 60745782 60745782 + Frame_Shift_Del DEL A A - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr15:60745782delA ENST00000561114.1 - 9 1307 c.1145delT c.(1144-1146)tcfs p.F382fs NARG2_ENST00000439632.1_Intron|NARG2_ENST00000261520.4_Intron NM_001276385.1 NP_001263314.1 Q659A1 NARG2_HUMAN NMDA receptor regulated 2 0 nucleus breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 32 CCCTTAGGGGAAAAAAAAAGC 0.338 8 283 --- --- --- --- ZNF609 23060 broad.mit.edu 37 15 64967994 64967994 + Frame_Shift_Del DEL C C - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr15:64967994delC ENST00000326648.3 + 4 3069 c.2941delC c.(2941-2943)ccfs p.P982fs NM_015042.1 NP_055857.1 O15014 ZN609_HUMAN zinc finger protein 609 982 nucleus zinc ion binding breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TGCCTATGTACCCCCCTATGG 0.552 9 1600 --- --- --- --- ARID3B 10620 broad.mit.edu 37 15 74888025 74888027 + In_Frame_Del DEL CAG CAG - rs141710149 TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr15:74888025_74888027delCAG ENST00000346246.5 + 9 1824_1826 c.1593_1595delCAG c.(1591-1596)gcc>gc p.AS531del NM_006465.2 NP_006456.1 Q8IVW6 ARI3B_HUMAN AT rich interactive domain 3B (BRIGHT-like) 532 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2) 14 gcagcagcgccagcagcagcagc 0.640 9 301 --- --- --- --- DNM1P47 0 broad.mit.edu 37 15 102292874 102292876 + RNA DEL CTC CTC - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr15:102292874_102292876delCTC ENST00000561463.1 + 0 920_922 AGTTCATCTTCTCAGAGCTGCTG 0.581 7 44 --- --- --- --- Z97634.5 0 broad.mit.edu 37 16 437259 437260 + RNA DEL AT AT - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr16:437259_437260delAT ENST00000412293.1 + 0 521 NR_024453.2 CTAATTCTAAATATATATATAT 0.421 9 187 --- --- --- --- RAB40C 57799 broad.mit.edu 37 16 677579 677580 + Frame_Shift_Ins INS - - C TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr16:677579_677580insC ENST00000535977.1 + 7 1025_1026 c.803_804insC c.(802-804)accfs p.T268fs RAB40C_ENST00000539661.1_Frame_Shift_Ins_p.T268fs|RAB40C_ENST00000538492.1_Frame_Shift_Ins_p.T268fs|RAB40C_ENST00000248139.3_Frame_Shift_Ins_p.T268fs NM_001172663.1 NP_001166134.1 Q96S21 RB40C_HUMAN RAB40C, member RAS oncogene family 268 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding p.Q271fs*7(1) NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1) 6 Hepatocellular(780;0.0218) CCACCCCAGAGCCCCCCCCAGA 0.678 9 561 --- --- --- --- SRRM2 23524 broad.mit.edu 37 16 2813635 2813636 + Frame_Shift_Del DEL TG TG - rs72768765 byFrequency TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr16:2813635_2813636delTG ENST00000301740.8 + 11 3655_3656 c.3106_3107delTG c.(3106-3108)tfs p.C1036fs NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 1036 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 CCTCTCTCTCTGTGCAGGAGTA 0.480 9 874 --- --- --- --- RP11-420N3.2 0 broad.mit.edu 37 16 5313074 5313076 + RNA DEL GGT GGT - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr16:5313074_5313076delGGT ENST00000569895.1 + 0 304 GCAGggtgacggtggtggtggtg 0.483 7 366 --- --- --- --- NPIPA5 100288332 broad.mit.edu 37 16 15457565 15457566 + Frame_Shift_Del DEL AC AC - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr16:15457565_15457566delAC ENST00000360151.4 - 8 1002_1003 c.1003_1004delGT c.(1003-1005)cfs p.V335fs NM_001277325.1 NP_001264254.1 nuclear pore complex interacting protein family, member A5 GAGTGAGCAGACACACTCGGGA 0.446 9 546 --- --- --- --- ATXN2L 11273 broad.mit.edu 37 16 28846491 28846491 + Frame_Shift_Del DEL C C - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr16:28846491delC ENST00000336783.4 + 19 2713 c.2546delC c.(2545-2547)acfs p.T849fs RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000325215.6_Frame_Shift_Del_p.T849fs|ATXN2L_ENST00000570200.1_Frame_Shift_Del_p.T849fs|ATXN2L_ENST00000564304.1_Frame_Shift_Del_p.T855fs|ATXN2L_ENST00000565845.1_3'UTR|ATXN2L_ENST00000382686.4_Frame_Shift_Del_p.T849fs|ATXN2L_ENST00000395547.2_Frame_Shift_Del_p.T849fs|ATXN2L_ENST00000340394.8_Frame_Shift_Del_p.T849fs NM_007245.3 NP_009176.2 Q8WWM7 ATX2L_HUMAN ataxin 2-like 849 membrane breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 GAGCAGCCTACCCCCCAAGCC 0.622 7 1404 --- --- --- --- RRN3P2 0 broad.mit.edu 37 16 29110406 29110406 + RNA DEL T T - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr16:29110406delT ENST00000564580.1 + 0 1098 TTAAAAAATCTTTTTTTTTTT 0.299 15 133 --- --- --- --- TAOK2 9344 broad.mit.edu 37 16 29998498 29998500 + In_Frame_Del DEL CTG CTG - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr16:29998498_29998500delCTG ENST00000308893.4 + 16 3948_3950 c.2905_2907delCTG c.(2905-2907)del p.L974del TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000416441.2_In_Frame_Del_p.L801del|TAOK2_ENST00000543033.1_In_Frame_Del_p.L861del NM_001252043.1|NM_016151.3 NP_001238972.1|NP_057235.2 Q9UL54 TAOK2_HUMAN TAO kinase 2 974 Leu-rich. actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 CCTGCCCCTCCTGCTGCTGCTGC 0.709 7 555 --- --- --- --- SRCAP 10847 broad.mit.edu 37 16 30731611 30731611 + Frame_Shift_Del DEL C C - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr16:30731611delC ENST00000262518.4 + 19 3331 c.2946delC c.(2944-2946)gafs p.D982fs SRCAP_ENST00000395059.2_Frame_Shift_Del_p.D982fs|SRCAP_ENST00000344771.4_Frame_Shift_Del_p.D982fs NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 982 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) CTGCTCCTGACCCCCCACCCC 0.567 7 1890 --- --- --- --- SLC9A5 6553 broad.mit.edu 37 16 67300017 67300019 + In_Frame_Del DEL GAG GAG - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr16:67300017_67300019delGAG ENST00000299798.11 + 15 2172_2174 c.2107_2109delGAG c.(2107-2109)del p.E708del NM_004594.2 NP_004585.1 Q14940 SL9A5_HUMAN solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5 708 regulation of pH integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 27 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116) CGTGGAGTCTGAGGAGGAGGAGG 0.571 12 393 --- --- --- --- WDR59 79726 broad.mit.edu 37 16 74976691 74976691 + Frame_Shift_Del DEL T T - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr16:74976691delT ENST00000262144.6 - 7 609 c.479delA c.(478-480)atfs p.N160fs NM_030581.3 NP_085058.3 Q6PJI9 WDR59_HUMAN WD repeat domain 59 160 breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1) 27 GCAGTTAGCATTTTTTTTATT 0.502 7 452 --- --- --- --- ZCCHC14 23174 broad.mit.edu 37 16 87445610 87445612 + In_Frame_Del DEL TGG TGG - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr16:87445610_87445612delTGG ENST00000268616.4 - 12 2521_2523 c.2304_2306delCCA c.(2302-2307)cat>ca p.HH768del NM_015144.2 NP_055959.1 Q8WYQ9 ZCH14_HUMAN zinc finger, CCHC domain containing 14 768 His-rich. cell communication nucleic acid binding|phosphatidylinositol binding|zinc ion binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 BRCA - Breast invasive adenocarcinoma(80;0.0285) GGGCTGCtgatggtggtggtggt 0.665 7 244 --- --- --- --- SPG7 6687 broad.mit.edu 37 16 89613072 89613073 + Frame_Shift_Ins INS - - G rs111475461 byFrequency TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr16:89613072_89613073insG ENST00000268704.2 + 11 1471_1472 c.1456_1457insG c.(1456-1458)ggafs p.G486fs NM_003119.2 NP_003110.1 Q9UQ90 SPG7_HUMAN spastic paraplegia 7 (pure and complicated autosomal recessive) 486 R -> Q. cell death|nervous system development|protein catabolic process|proteolysis integral to membrane|mitochondrial membrane ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1) 20 all_hematologic(23;0.00824)|Colorectal(91;0.102) all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015) GCAGGAGAGGCGGGAGATTTTT 0.594 19 1136 --- --- --- --- TCF25 22980 broad.mit.edu 37 16 89951019 89951020 + Frame_Shift_Ins INS - - A TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr16:89951019_89951020insA ENST00000263346.8 + 3 440_441 c.384_385insA c.(382-387)aaaaaafs p.KK128fs TCF25_ENST00000563406.1_3'UTR NM_014972.2 NP_055787.1 Q9BQ70 TCF25_HUMAN transcription factor 25 (basic helix-loop-helix) 128 heart development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2) 18 all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027) BRCA - Breast invasive adenocarcinoma(80;0.0288) TCCGGAAGAAGAAAAAAAAACA 0.446 15 313 --- --- --- --- C17orf85 55421 broad.mit.edu 37 17 3721809 3721811 + In_Frame_Del DEL TCC TCC - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr17:3721809_3721811delTCC ENST00000158149.3 - 11 1111_1113 c.216_218delGGA c.(214-219)gaa>ga p.EE78del C17orf85_ENST00000389005.4_In_Frame_Del_p.EE358del Q53F19 CQ085_HUMAN chromosome 17 open reading frame 85 358 nucleotide binding endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1) 10 UCEC - Uterine corpus endometrioid carcinoma (3;0.0725) ctcttcctcttcctcctcctcct 0.507 10 610 --- --- --- --- AC005863.1 0 broad.mit.edu 37 17 14673542 14673543 + RNA INS - - T TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr17:14673542_14673543insT ENST00000379640.1 - 0 354_355 GCTGGTCCCAGTTTTTTTTTCT 0.450 8 262 --- --- --- --- TRPV2 51393 broad.mit.edu 37 17 16335490 16335492 + In_Frame_Del DEL TGC TGC - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr17:16335490_16335492delTGC ENST00000338560.7 + 12 2264_2266 c.1865_1867delTGC c.(1864-1869)gtg>g p.VL622del TRPV2_ENST00000583241.1_3'UTR|TRPV2_ENST00000577397.1_In_Frame_Del_p.VL192del NM_016113.4 NP_057197.2 Q9Y5S1 TRPV2_HUMAN transient receptor potential cation channel, subfamily V, member 2 622 sensory perception integral to plasma membrane|melanosome calcium channel activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3) 28 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) CGCGGCATGGTGCTGCTGCTGCT 0.596 18 417 --- --- --- --- MED9 55090 broad.mit.edu 37 17 17394705 17394707 + In_Frame_Del DEL CAG CAG - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr17:17394705_17394707delCAG ENST00000268711.3 + 2 393_395 c.337_339delCAG c.(337-339)del p.Q117del NM_018019.2 NP_060489.1 Q9NWA0 MED9_HUMAN mediator complex subunit 9 117 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent protein binding cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 7 GAGCCCCGAACAGCAGCAGCAGC 0.581 8 712 --- --- --- --- RP1-37N7.4 0 broad.mit.edu 37 17 18334177 18334177 + RNA DEL T T - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr17:18334177delT ENST00000580052.1 + 0 43 TTCCTCTCTGTTTTTTTTTTC 0.572 7 118 --- --- --- --- SPECC1 92521 broad.mit.edu 37 17 20108262 20108263 + Frame_Shift_Ins INS - - A TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr17:20108262_20108263insA ENST00000395530.2 + 2 865_866 c.657_658insA c.(655-660)taaaaafs p.*K219fs SPECC1_ENST00000395522.2_Frame_Shift_Ins_p.*K219fs|SPECC1_ENST00000395525.3_Frame_Shift_Ins_p.*K219fs|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000395527.4_Frame_Shift_Ins_p.*K300fs|SPECC1_ENST00000536879.1_Intron|SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000395529.3_Frame_Shift_Ins_p.*K300fs|SPECC1_ENST00000261503.5_Frame_Shift_Ins_p.*K300fs NM_001033555.2 NP_001028727.1 Q5M775 CYTSB_HUMAN sperm antigen with calponin homology and coiled-coil domains 1 300 nucleus p.N303fs*15(1) breast(1)|large_intestine(3)|ovary(4) 8 KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196) TTGATGAGTATAAAAAAAACAT 0.455 7 816 --- --- --- --- DHRS7B 25979 broad.mit.edu 37 17 21094331 21094333 + In_Frame_Del DEL GAA GAA - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 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 7 1260 --- --- --- --- POLDIP2 26073 broad.mit.edu 37 17 26684394 26684395 + Splice_Site INS - - G rs113730440 TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr17:26684394_26684395insG ENST00000540200.1 - 1 78 c.e1+1 POLDIP2_ENST00000003607.4_5'UTR NM_015584.3 NP_056399.1 Q9Y2S7 PDIP2_HUMAN polymerase (DNA-directed), delta interacting protein 2 mitochondrial nucleoid|nucleus all_lung(13;0.000354)|Lung NSC(42;0.00115) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) AGAGCGGCTTTGCCACCGGGCC 0.762 10 64 --- --- --- --- KRTAP4-1 85285 broad.mit.edu 37 17 39340796 39340852 + In_Frame_Del DEL CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG - rs483929 by1000genomes TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG ENST00000398472.1 - 1 742_798 c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG c.(253-312)cgt>cg p.RPLCCQTTCHPSCGMSSCCR85del Q9BYQ7 KRA41_HUMAN keratin associated protein 4-1 85 18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL]. Missing (in allele KAP4.10). keratin filament p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2) kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 5 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) ACAGAGTGGACGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGGCGGCAGCAGC 0.646 19 504 --- --- --- --- KRTAP9-1 0 broad.mit.edu 37 17 39346425 39346427 + In_Frame_Del DEL GTG GTG - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr17:39346425_39346427delGTG ENST00000398470.1 + 1 287_289 c.287_289delGTG c.(286-291)tgc>t p.CG96del KRTAP9-1_ENST00000377723.3_Intron|KRTAP9-1_ENST00000318329.5_Splice_Site_p.CG46_splice NM_001190460.1 NP_001177389.1 A8MXZ3 KRA91_HUMAN keratin associated protein 9-1 96 30 X 5 AA repeats of C-C-[CGSVRQH]- [SQTNP]-[PTSI]. keratin filament breast(1)|lung(3) 4 TCCAGCTGCTGTGGCCAAACCAG 0.606 8 184 --- --- --- --- LINC00854 0 broad.mit.edu 37 17 41381913 41381914 + RNA INS - - T rs11403368 TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr17:41381913_41381914insT ENST00000433702.2 - 0 14 NR_047479.1 accctgatctatcatcgggagg 0.550 22 64 --- --- --- --- CCDC103 388389 broad.mit.edu 37 17 42980014 42980015 + Frame_Shift_Del DEL AG AG - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr17:42980014_42980015delAG ENST00000417826.2 + 4 653_654 c.558_559delAG c.(556-561)gcagfs p.AE186fs FAM187A_ENST00000331733.4_5'UTR|CCDC103_ENST00000410006.2_Frame_Shift_Del_p.AE186fs|FAM187A_ENST00000412523.2_Intron NM_001258399.1|NM_213607.2 NP_001245328.1|NP_998772.1 Q8IW40 CC103_HUMAN coiled-coil domain containing 103 186 p.E187K(1) endometrium(1)|kidney(1)|large_intestine(3)|prostate(1)|skin(1) 7 Prostate(33;0.109) TGAGCCGGGCAGAGAGAGAGAG 0.644 7 403 --- --- --- --- CDC42EP4 23580 broad.mit.edu 37 17 71281585 71281587 + In_Frame_Del DEL TCC TCC - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr17:71281585_71281587delTCC ENST00000335793.3 - 2 1447_1449 c.1053_1055delGGA c.(1051-1056)gat>ga p.ED351del CDC42EP4_ENST00000581014.1_3'UTR|CDC42EP4_ENST00000439510.2_In_Frame_Del_p.ED281del Q9H3Q1 BORG4_HUMAN CDC42 effector protein (Rho GTPase binding) 4 351 positive regulation of pseudopodium assembly|regulation of cell shape actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton GTP-Rho binding cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1) 14 LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711) ACGGATTTCATCCTCCTCCTCCT 0.640 9 665 --- --- --- --- ROCK1P1 0 broad.mit.edu 37 18 112482 112482 + RNA DEL C C - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr18:112482delC ENST00000576266.1 + 0 116 AGGGGTGCTTCCAGCGAGGCG 0.622 8 176 --- --- --- --- SOGA2 23255 broad.mit.edu 37 18 8793004 8793004 + Frame_Shift_Del DEL C C - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr18:8793004delC ENST00000359865.3 + 8 2038 c.1896delC c.(1894-1896)ggfs p.G632fs SOGA2_ENST00000400050.3_Intron|SOGA2_ENST00000306329.11_Intron|SOGA2_ENST00000518815.1_Intron|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000517570.1_Intron NM_015210.3 NP_056025.2 Q9Y4B5 CC165_HUMAN SOGA family member 2 980 AGCTCAGGGGCCCCCCCGTTT 0.552 7 1679 --- --- --- --- FAM210A 125228 broad.mit.edu 37 18 13681751 13681751 + Frame_Shift_Del DEL T T - rs143162930 TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr18:13681751delT ENST00000322247.3 - 3 713 c.326delA c.(325-327)agfs p.K109fs FAM210A_ENST00000402563.1_Frame_Shift_Del_p.K109fs|FAM210A_ENST00000588475.1_5'UTR NM_001098801.1 NP_001092271.1 Q96ND0 CR019_HUMAN family with sequence similarity 210, member A 109 integral to membrane p.K109fs*29(1) AGGCTCTTCCTTTTTTTCCGG 0.433 9 1300 --- --- --- --- RBBP8 5932 broad.mit.edu 37 18 20572852 20572853 + Frame_Shift_Ins INS - - A TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr18:20572852_20572853insA ENST00000399722.2 + 11 1413_1414 c.1062_1063insA c.(1060-1065)ggaaaafs p.GK354fs RBBP8_ENST00000399725.2_Frame_Shift_Ins_p.GK354fs|RBBP8_ENST00000360790.5_Frame_Shift_Ins_p.GK354fs|RBBP8_ENST00000327155.5_Frame_Shift_Ins_p.GK354fs NM_203291.1 NP_976036.1 Q99708 COM1_HUMAN retinoblastoma binding protein 8 354 cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter nucleus damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity p.K357fs*3(2)|p.K355E(2)|p.G354G(2) central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1) 24 all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19) OV - Ovarian serous cystadenocarcinoma(1;0.00196) TACAGCCTGGGAAAAAAAAACA 0.361 Homologous recombination 27 797 --- --- --- --- OSBPL1A 114876 broad.mit.edu 37 18 21745096 21745097 + Frame_Shift_Ins INS - - T TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr18:21745096_21745097insT ENST00000319481.3 - 27 2888_2889 c.2682_2683insA c.(2680-2685)aagactfs p.T895fs OSBPL1A_ENST00000399443.3_Frame_Shift_Ins_p.T382fs|OSBPL1A_ENST00000357041.4_Frame_Shift_Ins_p.T513fs NM_080597.3 NP_542164.2 Q9BXW6 OSBL1_HUMAN oxysterol binding protein-like 1A 895 cholesterol metabolic process|lipid transport|vesicle-mediated transport phospholipid binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 36 all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17) TCCTCAAGTCGTTTTTTTTCTT 0.460 20 1322 --- --- --- --- TRAPPC8 22878 broad.mit.edu 37 18 29453418 29453418 + Frame_Shift_Del DEL A A - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr18:29453418delA ENST00000283351.4 - 14 2372 c.2037delT c.(2035-2037)ttfs p.F679fs TRAPPC8_ENST00000582539.1_Frame_Shift_Del_p.F625fs NM_014939.3 NP_055754.2 Q9Y2L5 TPPC8_HUMAN trafficking protein particle complex 8 679 ER to Golgi vesicle-mediated transport cis-Golgi network breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 TGTCATGGCCAAAAAAAACCC 0.358 7 174 --- --- --- --- CXXC1 30827 broad.mit.edu 37 18 47812275 47812277 + In_Frame_Del DEL CTG CTG - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr18:47812275_47812277delCTG ENST00000285106.6 - 5 1195_1197 c.481_483delCAG c.(481-483)del p.Q161del CXXC1_ENST00000412036.2_In_Frame_Del_p.Q161del|CXXC1_ENST00000589940.1_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 7 287 --- --- --- --- MBD3 53615 broad.mit.edu 37 19 1578372 1578374 + In_Frame_Del DEL CTC CTC - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 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 9 259 --- --- --- --- ICAM3 3385 broad.mit.edu 37 19 10445901 10445901 + Frame_Shift_Del DEL C C - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr19:10445901delC ENST00000589261.1 - 4 1079 c.547delG c.(547-549)acfs p.D183fs ICAM3_ENST00000160262.5_Frame_Shift_Del_p.D260fs P32942 ICAM3_HUMAN intercellular adhesion molecule 3 260 Ig-like C2-type 2. cell-cell adhesion|regulation of immune response integral to plasma membrane integrin binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2) 13 OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05) AGCATCTGGTCCCCCAGCGCC 0.662 7 1454 --- --- --- --- ECSIT 51295 broad.mit.edu 37 19 11618821 11618821 + Frame_Shift_Del DEL G G - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr19:11618821delG ENST00000270517.7 - 5 916 c.781delC c.(781-783)agfs p.Q261fs ECSIT_ENST00000591352.1_5'UTR|ECSIT_ENST00000588998.1_Frame_Shift_Del_p.Q47fs|ECSIT_ENST00000591104.1_Frame_Shift_Del_p.Q261fs|ECSIT_ENST00000592312.1_Frame_Shift_Del_p.Q145fs|ECSIT_ENST00000417981.2_Frame_Shift_Del_p.Q47fs|ECSIT_ENST00000252440.7_Frame_Shift_Del_p.Q261fs NM_016581.4 NP_057665.2 Q9BQ95 ECSIT_HUMAN ECSIT signalling integrator 261 innate immune response|regulation of oxidoreductase activity mitochondrion oxidoreductase activity, acting on NADH or NADPH|protein binding kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 11 ATGTGGGGCTGGGGGGGATCT 0.582 7 868 --- --- --- --- OR7C2 26658 broad.mit.edu 37 19 15052604 15052604 + Frame_Shift_Del DEL T T - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr19:15052604delT ENST00000248072.3 + 1 304 c.304delT c.(304-306)ttfs p.F104fs NM_012377.1 NP_036509.1 O60412 OR7C2_HUMAN olfactory receptor, family 7, subfamily C, member 2 104 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(8)|ovary(2)|skin(2) 15 Ovarian(108;0.203) CACTCAGATATTTTTTTTCAT 0.468 8 414 --- --- --- --- CHERP 10523 broad.mit.edu 37 19 16640581 16640583 + In_Frame_Del DEL TGC TGC - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr19:16640581_16640583delTGC ENST00000546361.2 - 8 1156_1158 c.1005_1007delGCA c.(1003-1008)caa>ca p.QQ339del CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000198939.6_In_Frame_Del_p.QQ350del NM_006387.5 NP_006378.3 Q8IWX8 CHERP_HUMAN calcium homeostasis endoplasmic reticulum protein 339 Gln-rich. cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing endoplasmic reticulum|perinuclear region of cytoplasm RNA binding endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3) 24 ctgctgctgttgctgctgctgct 0.670 13 247 --- --- --- --- MYO9B 4650 broad.mit.edu 37 19 17311567 17311568 + Frame_Shift_Ins INS - - G TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr19:17311567_17311568insG ENST00000595618.1 + 26 4644_4645 c.4492_4493insG c.(4492-4494)ggafs p.G1498fs MYO9B_ENST00000594824.1_Frame_Shift_Ins_p.G1498fs|MYO9B_ENST00000397274.2_Frame_Shift_Ins_p.G1498fs NM_001130065.1|NM_004145.3 NP_001123537.1|NP_004136.2 Q13459 MYO9B_HUMAN myosin IXB 1498 Tail. actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4) 39 AGAGAAGTGGCGGGAATCGGTG 0.559 8 869 --- --- --- --- SLC7A9 11136 broad.mit.edu 37 19 33353391 33353393 + In_Frame_Del DEL TGA TGA - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr19:33353391_33353393delTGA ENST00000023064.4 - 5 769_771 c.578_580delTCA c.(577-582)agc>a p.IS193del SLC7A9_ENST00000590341.1_In_Frame_Del_p.IS193del|SLC7A9_ENST00000587772.1_In_Frame_Del_p.IS193del NM_001126335.1|NM_001243036.1|NM_014270.4 NP_001119807.1|NP_001229965.1|NP_055085.1 P82251 BAT1_HUMAN solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9 193 I -> II (in CSNU). blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly integral to plasma membrane L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 32 Esophageal squamous(110;0.137) L-Cystine(DB00138) ACCAGCCCGCTGATGATGATGAT 0.631 8 480 --- --- --- --- HAMP 57817 broad.mit.edu 37 19 35773520 35773522 + In_Frame_Del DEL CTC CTC - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr19:35773520_35773522delCTC ENST00000598398.1 + 2 336_338 c.40_42delCTC c.(40-42)del p.L18del HAMP_ENST00000222304.3_In_Frame_Del_p.L18del NM_021175.2 NP_066998.1 P81172 HEPC_HUMAN hepcidin antimicrobial peptide 18 defense response to bacterium|defense response to fungus|immune response|killing of cells of other organism extracellular region hormone activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1) 4 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) TTGCCTCCTGCTCCTCCTCCTCC 0.640 20 1361 --- --- --- --- FFAR2 2867 broad.mit.edu 37 19 35940788 35940790 + In_Frame_Del DEL CTG CTG - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr19:35940788_35940790delCTG ENST00000599180.1 + 2 252_254 c.172_174delCTG c.(172-174)del p.L62del FFAR2_ENST00000601590.1_Intron|FFAR2_ENST00000246549.2_In_Frame_Del_p.L62del O15552 FFAR2_HUMAN free fatty acid receptor 2 62 integral to plasma membrane G-protein coupled receptor activity|lipid binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1) 22 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) CGACCTCCTCCTGCTGCTGCTGC 0.645 10 321 --- --- --- --- ATP4A 495 broad.mit.edu 37 19 36054349 36054351 + In_Frame_Del DEL CTT CTT - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr19:36054349_36054351delCTT ENST00000262623.3 - 2 119_121 c.91_93delAAG c.(91-93)del p.K31del NM_000704.2 NP_000695.2 P20648 ATP4A_HUMAN ATPase, H+/K+ exchanging, alpha polypeptide 31 ATP biosynthetic process|ATP hydrolysis coupled proton transport integral to plasma membrane ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 53 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831) CGCCACCCGCCTTCTTCTTCTTG 0.601 12 1963 --- --- --- --- FAM98C 147965 broad.mit.edu 37 19 38899502 38899504 + In_Frame_Del DEL AAG AAG - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr19:38899502_38899504delAAG ENST00000252530.5 + 8 1049_1051 c.1030_1032delAAG c.(1030-1032)del p.K349del FAM98C_ENST00000343358.7_In_Frame_Del_p.K267del|FAM98C_ENST00000588262.1_3'UTR NM_174905.3 NP_777565.3 Q17RN3 FA98C_HUMAN family with sequence similarity 98, member C 349 endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 15 all_cancers(60;3.95e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) TTGGGGTCGCAAGAAGAAGAAGA 0.606 26 591 --- --- --- --- RYR1 6261 broad.mit.edu 37 19 38948159 38948160 + Frame_Shift_Del DEL TG TG - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr19:38948159_38948160delTG ENST00000355481.4 + 17 1945_1946 c.1814_1815delTG c.(1813-1815)cfs p.L605fs RYR1_ENST00000359596.3_Frame_Shift_Del_p.L605fs|RYR1_ENST00000360985.3_Frame_Shift_Del_p.L605fs NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 605 B30.2/SPRY 1. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CTATGCTCCCTGTGTGTGTGTA 0.530 7 1586 --- --- --- --- SERTAD1 29950 broad.mit.edu 37 19 40929409 40929411 + In_Frame_Del DEL CTC CTC - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr19:40929409_40929411delCTC ENST00000357949.4 - 2 201_203 c.43_45delGAG c.(43-45)del p.E15del NM_013376.3 NP_037508.2 Q9UHV2 SRTD1_HUMAN SERTA domain containing 1 15 positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent endometrium(2)|lung(1)|prostate(1)|skin(1) 5 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) GAGGTTCCTTCTCCTCCTCCTCC 0.557 9 510 --- --- --- --- LIPE-AS1 0 broad.mit.edu 37 19 43136362 43136363 + RNA DEL TG TG - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr19:43136362_43136363delTG ENST00000594688.1 + 0 1450 LIPE-AS1_ENST00000594624.2_RNA NR_073179.1 TGAGTATGTATGTGTGTGTGTG 0.505 14 188 --- --- --- --- PVRL2 5819 broad.mit.edu 37 19 45381749 45381751 + In_Frame_Del DEL GAG GAG - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr19:45381749_45381751delGAG ENST00000252485.4 + 6 1663_1665 c.1312_1314delGAG c.(1312-1314)del p.E445del PVRL2_ENST00000252483.5_Intron NM_002856.2 NP_002847.1 Q92692 PVRL2_HUMAN poliovirus receptor-related 2 (herpesvirus entry mediator B) 504 adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor cell surface|integral to membrane|zonula adherens cell adhesion molecule binding|coreceptor activity|protein homodimerization activity breast(1)|endometrium(1)|large_intestine(6)|lung(5) 13 Lung NSC(12;0.00195)|all_lung(12;0.00522) Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0143) TGGCAaggatgaggaggaggagg 0.591 8 185 --- --- --- --- DHX34 9704 broad.mit.edu 37 19 47883158 47883160 + In_Frame_Del DEL GGA GGA - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr19:47883158_47883160delGGA ENST00000328771.4 + 14 3247_3249 c.2898_2900delGGA c.(2896-2901)ctg>ct p.LE966del NM_014681.5 NP_055496.2 Q14147 DHX34_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 34 966 intracellular ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132) AGCAGCAGCTGGAGGAGGAGGAG 0.660 9 429 --- --- --- --- SPHK2 56848 broad.mit.edu 37 19 49132545 49132545 + Frame_Shift_Del DEL C C - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr19:49132545delC ENST00000443164.1 + 5 2371 c.1666delC c.(1666-1668)ccfs p.P557fs SPHK2_ENST00000599029.1_Frame_Shift_Del_p.P459fs|SPHK2_ENST00000598088.1_Frame_Shift_Del_p.P495fs|SPHK2_ENST00000600537.1_Frame_Shift_Del_p.P436fs|SPHK2_ENST00000340932.3_Frame_Shift_Del_p.P457fs|SPHK2_ENST00000599748.1_Frame_Shift_Del_p.P459fs|SPHK2_ENST00000245222.4_Frame_Shift_Del_p.P495fs Q9NRA0 SPHK2_HUMAN sphingosine kinase 2 495 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process cytosol|lysosomal membrane|membrane fraction ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 19 all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158) CCCCGTAATTCCCCCATCCTC 0.697 7 1075 --- --- --- --- SCAF1 58506 broad.mit.edu 37 19 50158042 50158042 + Frame_Shift_Del DEL C C - rs149487378 by1000genomes TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr19:50158042delC ENST00000360565.3 + 9 3657 c.3533delC c.(3532-3534)acfs p.T1178fs NM_021228.2 NP_067051.2 Q9H7N4 SFR19_HUMAN SR-related CTD-associated factor 1 1178 mRNA processing|RNA splicing nucleus RNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 20 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204) TGCGGTTCGACCCCCCCCACC 0.692 8 354 --- --- --- --- ZNF880 400713 broad.mit.edu 37 19 52877717 52877717 + Frame_Shift_Del DEL T T - rs77187934 TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr19:52877717delT ENST00000597976.1 + 3 325 c.305delT c.(304-306)atfs p.I102fs ZNF880_ENST00000424032.2_Intron|ZNF880_ENST00000600321.1_Intron|ZNF880_ENST00000422689.2_Intron|ZNF880_ENST00000344085.5_Intron Q6PDB4 ZN880_HUMAN zinc finger protein 880 0 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1) 10 GGCCCCATAAttttttttttt 0.473 8 83 --- --- --- --- LILRB2 0 broad.mit.edu 37 19 54780707 54780709 + In_Frame_Del DEL GAG GAG - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr19:54780707_54780709delGAG ENST00000391748.1 - 10 1559_1561 c.1432_1434delCTC c.(1432-1434)del p.L478del LILRB2_ENST00000314446.5_In_Frame_Del_p.L478del|LILRB2_ENST00000391746.1_In_Frame_Del_p.L479del|LILRB2_ENST00000434421.1_In_Frame_Del_p.L363del|LILRB2_ENST00000391749.4_In_Frame_Del_p.L479del NM_001278403.1 NP_001265332.1 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 479 cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity p.L479L(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 44 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) ggatgaggaagaggaggaggagg 0.611 22 904 --- --- --- --- LILRB1 0 broad.mit.edu 37 19 55146148 55146150 + In_Frame_Del DEL CTC CTC - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr19:55146148_55146150delCTC ENST00000396331.1 + 11 1774_1776 c.1417_1419delCTC c.(1417-1419)del p.L479del LILRB1_ENST00000396317.1_In_Frame_Del_p.L463del|LILRB1_ENST00000396321.2_In_Frame_Del_p.L479del|LILRB1_ENST00000448689.1_In_Frame_Del_p.L479del|LILRB1_ENST00000418536.2_In_Frame_Del_p.L463del|LILRB1_ENST00000396315.1_In_Frame_Del_p.L480del|LILRB1_ENST00000324602.7_In_Frame_Del_p.L480del|LILRB1_ENST00000396327.3_In_Frame_Del_p.L480del|LILRB1_ENST00000396332.4_In_Frame_Del_p.L479del|LILRB1_ENST00000434867.2_In_Frame_Del_p.L479del|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000427581.2_In_Frame_Del_p.L529del NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 479 regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) CAtcctactgctcctcctcctcc 0.581 HNSCC(37;0.09) 13 441 --- --- --- --- DNAAF3 352909 broad.mit.edu 37 19 55672059 55672059 + Frame_Shift_Del DEL C C - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr19:55672059delC ENST00000527223.2 - 9 1202 c.1201delG c.(1201-1203)acfs p.D401fs DNAAF3_ENST00000524407.2_Frame_Shift_Del_p.D333fs|CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000455045.1_Frame_Shift_Del_p.D279fs|DNAAF3_ENST00000391720.4_Frame_Shift_Del_p.D380fs NM_001256714.1 NP_001243643.1 Q8N9W5 CS051_HUMAN dynein, axonemal, assembly factor 3 333 TCCTCCAGGTCCCCCCCGGTG 0.677 OREG0025678 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 746 --- --- --- --- CHGB 1114 broad.mit.edu 37 20 5903283 5903285 + In_Frame_Del DEL GAG GAG - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr20:5903283_5903285delGAG ENST00000378961.4 + 4 697_699 c.493_495delGAG c.(493-495)del p.E169del NM_001819.2 NP_001810.2 P05060 SCG1_HUMAN chromogranin B (secretogranin 1) 169 Poly-Glu. extracellular region hormone activity breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 47 GAGAGAGGATGAGGAGGAGGAGG 0.532 11 399 --- --- --- --- RP4-777D9.2 0 broad.mit.edu 37 20 21143813 21143814 + RNA INS - - T TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr20:21143813_21143814insT ENST00000591761.1 - 0 5051 PLK1S1_ENST00000457464.1_RNA AAGCCATTCAATTTTTTTTTTC 0.371 25 631 --- --- --- --- ZNF337 26152 broad.mit.edu 37 20 25657231 25657232 + Frame_Shift_Del DEL TG TG - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr20:25657231_25657232delTG ENST00000376436.1 - 4 1231_1232 c.692_693delCA c.(691-693)afs p.T231fs RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000538750.1_Frame_Shift_Del_p.T199fs|ZNF337_ENST00000252979.5_Frame_Shift_Del_p.T231fs zinc finger protein 337 breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 ACTTCTCTCCTGTGTGTGTGTT 0.510 7 565 --- --- --- --- FRG1B 0 broad.mit.edu 37 20 29624034 29624035 + Frame_Shift_Ins INS - - G rs73621649 TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr20:29624034_29624035insG ENST00000439954.2 + 4 419_420 c.73_74insG c.(73-75)tgafs p.*25fs FRG1B_ENST00000278882.3_Intron|FRG1B_ENST00000358464.4_Intron endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TTTCTCCAATATTGATGAGGGC 0.287 10 84 --- --- --- --- FRG1B 0 broad.mit.edu 37 20 29625899 29625900 + Frame_Shift_Ins INS - - AT TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr20:29625899_29625900insAT ENST00000278882.3 + 5 523_524 c.143_144insAT c.(142-144)atafs p.I48fs FRG1B_ENST00000439954.2_Frame_Shift_Ins_p.I53fs|FRG1B_ENST00000358464.4_Frame_Shift_Ins_p.I48fs endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGCTATGGAAAATATCTTGGTA 0.342 27 770 --- --- --- --- FRG1B 0 broad.mit.edu 37 20 29628310 29628312 + In_Frame_Del DEL AGG AGG - rs111939959 TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr20:29628310_29628312delAGG ENST00000278882.3 + 6 692_694 c.312_314delAGG c.(310-315)gca>gc p.AG104del FRG1B_ENST00000439954.2_In_Frame_Del_p.AG109del|FRG1B_ENST00000358464.4_In_Frame_Del_p.AG104del endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTAAAACAGCAGGAGAAGAAGAA 0.355 7 708 --- --- --- --- KIF3B 9371 broad.mit.edu 37 20 30898763 30898765 + In_Frame_Del DEL GAG GAG - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr20:30898763_30898765delGAG ENST00000375712.3 + 2 1350_1352 c.1183_1185delGAG c.(1183-1185)del p.E399del KIF3B_ENST00000418717.2_Intron NM_004798.3 NP_004789.1 O15066 KIF3B_HUMAN kinesin family member 3B 399 Poly-Glu. anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 36 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) GGGTGGggaagaggaggaggagg 0.571 10 288 --- --- --- --- NCOA6 23054 broad.mit.edu 37 20 33330968 33330970 + In_Frame_Del DEL TGC TGC - rs140426729 byFrequency TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr20:33330968_33330970delTGC ENST00000374796.2 - 12 5660_5662 c.3090_3092delGCA c.(3088-3093)caa>ca p.QQ1030del NCOA6_ENST00000359003.2_In_Frame_Del_p.QQ1030del Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 1030 CREBBP-binding region.|Gln-rich.|NCOA1-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 CATCATTtgttgctgctgctgct 0.576 15 709 --- --- --- --- EPPIN 57119 broad.mit.edu 37 20 44174297 44174297 + Frame_Shift_Del DEL T T - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr20:44174297delT ENST00000354280.4 - 2 270 c.204delA c.(202-204)aafs p.K68fs EPPIN_ENST00000336443.3_Frame_Shift_Del_p.K52fs|EPPIN_ENST00000409554.1_Frame_Shift_Del_p.K68fs|EPPIN_ENST00000555685.1_Frame_Shift_Del_p.K68fs|EPPIN-WFDC6_ENST00000504988.1_Frame_Shift_Del_p.K68fs NM_020398.3 NP_065131.1 epididymal peptidase inhibitor p.C53fs*28(2) GATCTAAACATTTTTTTCCGC 0.453 7 1538 --- --- --- --- ZMYND8 23613 broad.mit.edu 37 20 45875072 45875072 + Frame_Shift_Del DEL T T - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr20:45875072delT ENST00000311275.7 - 14 2157 c.1904delA c.(1903-1905)agfs p.K635fs ZMYND8_ENST00000536340.1_Frame_Shift_Del_p.K662fs|ZMYND8_ENST00000355972.4_Frame_Shift_Del_p.K635fs|ZMYND8_ENST00000446994.2_Frame_Shift_Del_p.K572fs|ZMYND8_ENST00000262975.4_Frame_Shift_Del_p.K635fs|ZMYND8_ENST00000372023.3_Frame_Shift_Del_p.K630fs|ZMYND8_ENST00000458360.2_Frame_Shift_Del_p.K630fs|ZMYND8_ENST00000396281.4_Frame_Shift_Del_p.K635fs|ZMYND8_ENST00000360911.3_Frame_Shift_Del_p.K630fs|ZMYND8_ENST00000471951.2_Frame_Shift_Del_p.K655fs|ZMYND8_ENST00000352431.2_Frame_Shift_Del_p.K655fs|ZMYND8_ENST00000461685.1_Frame_Shift_Del_p.K655fs|ZMYND8_ENST00000540497.1_Frame_Shift_Del_p.K583fs|ZMYND8_ENST00000468376.2_5'UTR Q9ULU4 PKCB1_HUMAN zinc finger, MYND-type containing 8 635 protein binding|zinc ion binding NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8) 62 Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154) AGGCTTGGGCTTTTTTTTAAC 0.488 14 1293 --- --- --- --- NFATC2 4773 broad.mit.edu 37 20 50092010 50092010 + Frame_Shift_Del DEL T T - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr20:50092010delT ENST00000371564.3 - 4 1739 c.1520delA c.(1519-1521)acfs p.N508fs NFATC2_ENST00000396009.3_Frame_Shift_Del_p.N508fs|NFATC2_ENST00000414705.1_Frame_Shift_Del_p.N488fs NM_001258296.1|NM_012340.4 NP_001245225.1|NP_036472.2 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 508 RHD. B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity EWSR1/NFATC2(9) breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 53 Hepatocellular(150;0.248) CCTCATGTTGTTTTTGGGCTC 0.572 7 1045 --- --- --- --- PMEPA1 56937 broad.mit.edu 37 20 56227348 56227349 + Frame_Shift_Ins INS - - G TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr20:56227348_56227349insG ENST00000341744.3 - 4 943_944 c.624_625insC c.(622-627)ccgcagfs p.Q209fs PMEPA1_ENST00000347215.4_Frame_Shift_Ins_p.Q174fs|PMEPA1_ENST00000265626.4_Frame_Shift_Ins_p.Q159fs|PMEPA1_ENST00000395814.1_Frame_Shift_Ins_p.Q159fs|PMEPA1_ENST00000395816.3_Frame_Shift_Ins_p.Q159fs NM_020182.4 NP_064567.2 Q969W9 PMEPA_HUMAN prostate transmembrane protein, androgen induced 1 209 androgen receptor signaling pathway integral to membrane|plasma membrane WW domain binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1) 16 GAGTTACTGCTGGGGGGGCAGG 0.683 7 394 --- --- --- --- LAMA5 3911 broad.mit.edu 37 20 60895697 60895698 + Frame_Shift_Ins INS - - G rs2297587 by1000genomes TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr20:60895697_60895698insG ENST00000252999.3 - 50 6742_6743 c.6676_6677insC c.(6676-6678)ccafs p.P2226fs NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 2226 Domain II and I. R -> H (in dbSNP:rs2297587). angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CGTCTCATGGCGGGGGCCCAGG 0.708 7 198 --- --- --- --- YTHDF1 54915 broad.mit.edu 37 20 61833650 61833652 + In_Frame_Del DEL CCT CCT - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr20:61833650_61833652delCCT ENST00000370339.3 - 4 1981_1983 c.1640_1642delAGG c.(1639-1644)gtg>g p.EV547del YTHDF1_ENST00000370333.4_In_Frame_Del_p.EV497del|YTHDF1_ENST00000370334.4_Intron NM_017798.3 NP_060268.2 Q9BYJ9 YTHD1_HUMAN YTH domain family, member 1 547 NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2) 24 TTGCGCACCACCTCCTCCTCCTC 0.557 8 739 --- --- --- --- TPTE 7179 broad.mit.edu 37 21 10944697 10944697 + Frame_Shift_Del DEL A A - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr21:10944697delA ENST00000298232.7 - 10 850 c.483delT c.(481-483)ttfs p.F161fs TPTE_ENST00000342420.5_Frame_Shift_Del_p.F141fs|TPTE_ENST00000361285.4_Frame_Shift_Del_p.F179fs|TPTE_ENST00000415664.2_5'UTR NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 179 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ACTTAATGTCAAAAAAAATGT 0.299 19 1071 --- --- --- --- LINC00478 0 broad.mit.edu 37 21 17443416 17443417 + RNA DEL TG TG - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr21:17443416_17443417delTG ENST00000458468.1 + 0 27 NR_027790.1 TTTTTCTTTTTGTGTGTGTGTG 0.431 10 772 --- --- --- --- SLC19A1 6573 broad.mit.edu 37 21 46951916 46951918 + In_Frame_Del DEL CAG CAG - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr21:46951916_46951918delCAG ENST00000311124.4 - 3 486_488 c.334_336delCTG c.(334-336)del p.L112del SLC19A1_ENST00000380010.4_In_Frame_Del_p.L112del|SLC19A1_ENST00000567670.1_In_Frame_Del_p.L112del|SLC19A1_ENST00000485649.2_In_Frame_Del_p.L72del NM_194255.2 NP_919231.1 P41440 S19A1_HUMAN solute carrier family 19 (folate transporter), member 1 112 folic acid metabolic process integral to plasma membrane|membrane fraction folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 10 Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172) CCGAGTGGCCCAGCAGCAGCAGC 0.645 8 207 --- --- --- --- HIRA 7290 broad.mit.edu 37 22 19373136 19373138 + In_Frame_Del DEL GCT GCT - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr22:19373136_19373138delGCT ENST00000263208.5 - 12 1491_1493 c.1235_1237delAGC c.(1234-1239)ctg>c p.QL412del HIRA_ENST00000340170.4_In_Frame_Del_p.QL412del|HIRA_ENST00000541063.1_In_Frame_Del_p.QL368del|HIRA_ENST00000546308.1_In_Frame_Del_p.QL368del NM_003325.3 NP_003316.3 P54198 HIRA_HUMAN histone cell cycle regulator 412 Poly-Gln. chromatin modification|regulation of transcription from RNA polymerase II promoter PML body chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1) 37 Colorectal(54;0.0993) TTCTGGTCCAGCTGCTGCTGCTG 0.581 9 282 --- --- --- --- MED15 51586 broad.mit.edu 37 22 20918916 20918918 + In_Frame_Del DEL CAG CAG - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr22:20918916_20918918delCAG ENST00000263205.7 + 6 700_702 c.631_633delCAG c.(631-633)del p.Q218del MED15_ENST00000542773.1_In_Frame_Del_p.Q23del|MED15_ENST00000406969.1_In_Frame_Del_p.Q192del|MED15_ENST00000541476.1_In_Frame_Del_p.Q192del|MED15_ENST00000292733.7_In_Frame_Del_p.Q218del|MED15_ENST00000382974.2_In_Frame_Del_p.Q147del|MED15_ENST00000425759.2_In_Frame_Del_p.Q107del 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) 15 192 --- --- --- --- HMGXB4 10042 broad.mit.edu 37 22 35661544 35661544 + Frame_Shift_Del DEL A A - rs76572304 TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr22:35661544delA ENST00000216106.5 + 5 1291 c.1163delA c.(1162-1164)gafs p.E388fs HMGXB4_ENST00000444518.2_Frame_Shift_Del_p.E279fs NM_001003681.2 NP_001003681.1 Q9UGU5 HMGX4_HUMAN HMG box domain containing 4 388 endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway NURF complex DNA binding breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 GGGCATAGTGAaaaaaaaaag 0.493 12 248 --- --- --- --- MYH9 4627 broad.mit.edu 37 22 36689419 36689421 + In_Frame_Del DEL CCT CCT - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr22:36689419_36689421delCCT ENST00000216181.5 - 30 4279_4281 c.4049_4051delAGG c.(4048-4053)gcc>g p.EA1350del NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 1350 E -> EE (in Ref. 7). actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 TTGTGCTTGGCCTCCTCCTCCTC 0.650 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 12 523 --- --- --- --- MYH9 4627 broad.mit.edu 37 22 36696948 36696950 + In_Frame_Del DEL CTC CTC - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr22:36696948_36696950delCTC ENST00000216181.5 - 22 3015_3017 c.2785_2787delGAG c.(2785-2787)del p.E929del NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 929 actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 GCTGGCAGCGCTCCTCCTCCTCC 0.665 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 7 666 --- --- --- --- PICK1 9463 broad.mit.edu 37 22 38471034 38471036 + In_Frame_Del DEL GGA GGA - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr22:38471034_38471036delGGA ENST00000404072.3 + 13 1490_1492 c.1143_1145delGGA c.(1141-1146)ggg>gg p.GE381del PICK1_ENST00000356976.3_In_Frame_Del_p.GE381del NM_001039583.1|NM_001039584.1 NP_001034672.1|NP_001034673.1 Q9NRD5 PICK1_HUMAN protein interacting with PRKCA 1 381 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 Melanoma(58;0.045) TCACAGATGGggaggaggaggag 0.635 9 187 --- --- --- --- RANGAP1 5905 broad.mit.edu 37 22 41650469 41650471 + In_Frame_Del DEL TCC TCC - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr22:41650469_41650471delTCC ENST00000455915.2 - 10 2570_2572 c.1101_1103delGGA c.(1099-1104)gaa>ga p.EE367del RANGAP1_ENST00000405486.1_In_Frame_Del_p.EE367del|RANGAP1_ENST00000356244.3_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 23 647 --- --- --- --- SREBF2 6721 broad.mit.edu 37 22 42271637 42271637 + Frame_Shift_Del DEL C C - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr22:42271637delC ENST00000361204.4 + 7 1461 c.1295delC c.(1294-1296)tcfs p.S432fs NM_004599.2 NP_004590.2 Q12772 SRBP2_HUMAN sterol regulatory element binding transcription factor 2 432 Interaction with LMNA (By similarity). cholesterol metabolic process ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex protein C-terminus binding NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 CTTCTGATGTCCCCCCCAGCC 0.522 7 837 --- --- --- --- SMDT1 91689 broad.mit.edu 37 22 42478046 42478048 + In_Frame_Del DEL GAT GAT - rs141840500 TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr22:42478046_42478048delGAT ENST00000331479.3 + 2 378_380 c.304_306delGAT c.(304-306)del p.D107del SMDT1_ENST00000547929.1_Intron NM_033318.4 NP_201575.3 single-pass membrane protein with aspartate-rich tail 1 TGTTCCAGAGGATGATGATGATG 0.478 9 509 --- --- --- --- TCF20 6942 broad.mit.edu 37 22 42610573 42610575 + In_Frame_Del DEL AGG AGG - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chr22:42610573_42610575delAGG ENST00000359486.3 - 1 873_875 c.737_739delCCT c.(736-741)ttc>t p.SF246del TCF20_ENST00000335626.4_In_Frame_Del_p.SF246del NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 246 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 GGTGAAGGGAaggaggaggagga 0.507 10 467 --- --- --- --- OFD1 8481 broad.mit.edu 37 X 13764946 13764946 + Frame_Shift_Del DEL A A - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chrX:13764946delA ENST00000380567.1 + 9 1154 c.282delA c.(280-282)gcfs p.A94fs OFD1_ENST00000398395.3_Frame_Shift_Del_p.A234fs|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380550.3_Frame_Shift_Del_p.A234fs|OFD1_ENST00000340096.6_Frame_Shift_Del_p.A234fs O75665 OFD1_HUMAN oral-facial-digital syndrome 1 234 LisH. cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle centriole|cilium|cytosol|microtubule basal body|nuclear membrane alpha-tubulin binding|gamma-tubulin binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 25 AAATGGAAGCAAAAAAAAAGT 0.299 16 505 --- --- --- --- PRRG1 5638 broad.mit.edu 37 X 37312611 37312611 + Frame_Shift_Del DEL C C - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chrX:37312611delC ENST00000542554.1 + 5 666 c.394delC c.(394-396)ccfs p.P135fs PRRG1_ENST00000543642.1_Frame_Shift_Del_p.P135fs|PRRG1_ENST00000449135.2_Frame_Shift_Del_p.P135fs|PRRG1_ENST00000378628.4_Frame_Shift_Del_p.P135fs|TM4SF2_ENST00000465127.1_Intron|PRRG1_ENST00000491253.1_3'UTR NM_001173489.1 NP_001166960.1 O14668 TMG1_HUMAN proline rich Gla (G-carboxyglutamic acid) 1 135 Poly-Pro. extracellular region|integral to plasma membrane calcium ion binding p.P135fs*3(1)|p.P134fs*19(1) breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 15 TATCACCCCACCCCCCCCACC 0.488 18 1061 --- --- --- --- RBM10 8241 broad.mit.edu 37 X 47030561 47030563 + In_Frame_Del DEL GGA GGA - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chrX:47030561_47030563delGGA ENST00000377604.3 + 4 1078_1080 c.336_338delGGA c.(334-339)ggg>gg p.GE112del RBM10_ENST00000345781.6_Intron|RBM10_ENST00000329236.7_Intron|RBM10_ENST00000468791.1_3'UTR NM_001204467.1|NM_001204468.1|NM_005676.4 NP_001191396.1|NP_001191397.1|NP_005667.2 P98175 RBM10_HUMAN RNA binding motif protein 10 112 mRNA processing|RNA splicing chromatin remodeling complex nucleotide binding|RNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 48 CCGAGCAAGGggaggaggaggag 0.660 17 256 --- --- --- --- GNL3L 54552 broad.mit.edu 37 X 54578339 54578341 + In_Frame_Del DEL GAA GAA - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chrX:54578339_54578341delGAA ENST00000336470.4 + 12 1252_1254 c.1113_1115delGAA c.(1111-1116)ggg>gg p.GK371del GNL3L_ENST00000360845.2_In_Frame_Del_p.GK371del NM_019067.5 NP_061940.1 Q9NVN8 GNL3L_HUMAN guanine nucleotide binding protein-like 3 (nucleolar)-like 371 ribosome biogenesis nucleolus GTP binding NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 30 ACCGTTTGGGGAAGAAGAAGAAG 0.557 10 586 --- --- --- --- NAP1L2 4674 broad.mit.edu 37 X 72433664 72433666 + In_Frame_Del DEL TCC TCC - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 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 24 377 --- --- --- --- NAP1L3 4675 broad.mit.edu 37 X 92928153 92928155 + In_Frame_Del DEL TGC TGC - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chrX:92928153_92928155delTGC ENST00000373079.3 - 1 412_414 c.149_151delGCA c.(148-153)act>a p.ST50del NAP1L3_ENST00000475430.1_5'UTR NM_004538.5 NP_004529.2 Q99457 NP1L3_HUMAN nucleosome assembly protein 1-like 3 50 Ser-rich. nucleosome assembly chromatin assembly complex haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 34 ctgccactagtgctgctgctgct 0.586 9 216 --- --- --- --- TAF7L 54457 broad.mit.edu 37 X 100530217 100530217 + Frame_Shift_Del DEL T T - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chrX:100530217delT ENST00000372907.3 - 12 1348 c.1337delA c.(1336-1338)atfs p.N446fs TAF7L_ENST00000324762.6_Frame_Shift_Del_p.N286fs|TAF7L_ENST00000356784.1_Frame_Shift_Del_p.N360fs|TAF7L_ENST00000372905.2_Frame_Shift_Del_p.N286fs NM_024885.3 NP_079161.3 Q5H9L4 TAF7L_HUMAN TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa 446 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter cytoplasm|transcription factor TFIID complex binding NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 TACCTTCTCATTTTTTTGTTT 0.333 7 1657 --- --- --- --- GPRASP2 114928 broad.mit.edu 37 X 101972053 101972053 + Frame_Shift_Del DEL A A - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chrX:101972053delA ENST00000543253.1 + 5 3175 c.2256delA c.(2254-2256)gcfs p.A752fs GPRASP2_ENST00000332262.5_Frame_Shift_Del_p.A752fs|GPRASP2_ENST00000535209.1_Frame_Shift_Del_p.A752fs NM_001004051.3|NM_001184874.2|NM_001184876.2 NP_001004051.1|NP_001171803.1|NP_001171805.1 G protein-coupled receptor associated sorting protein 2 breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 30 CTGCTGTGGCAAAAAAACTAT 0.343 9 941 --- --- --- --- PAK3 5063 broad.mit.edu 37 X 110406206 110406208 + In_Frame_Del DEL GAA GAA - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chrX:110406206_110406208delGAA ENST00000519681.1 + 10 1037_1039 c.595_597delGAA c.(595-597)del p.E203del PAK3_ENST00000372007.4_In_Frame_Del_p.E182del|PAK3_ENST00000518291.1_In_Frame_Del_p.E218del|PAK3_ENST00000262836.4_In_Frame_Del_p.E197del|PAK3_ENST00000425146.1_In_Frame_Del_p.E182del|PAK3_ENST00000360648.4_In_Frame_Del_p.E218del|PAK3_ENST00000446737.1_In_Frame_Del_p.E182del|PAK3_ENST00000372010.1_In_Frame_Del_p.E197del|PAK3_ENST00000417227.1_In_Frame_Del_p.E203del O75914 PAK3_HUMAN p21 protein (Cdc42/Rac)-activated kinase 3 197 Linker. multicellular organismal development ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 agatgaagaggaagaagaagaag 0.394 TSP Lung(19;0.15) 10 942 --- --- --- --- ZBTB33 10009 broad.mit.edu 37 X 119388255 119388257 + In_Frame_Del DEL GAG GAG - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chrX:119388255_119388257delGAG ENST00000326624.2 + 2 1213_1215 c.985_987delGAG c.(985-987)del p.E333del ZBTB33_ENST00000557385.1_In_Frame_Del_p.E333del NM_006777.3 NP_006768.1 Q86T24 KAISO_HUMAN zinc finger and BTB domain containing 33 333 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 p.E329E(1) breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 26 GGCCAATGAAGAGGAGGAGGAGG 0.433 7 1055 --- --- --- --- CUL4B 8450 broad.mit.edu 37 X 119694117 119694119 + In_Frame_Del DEL GAG GAG - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 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 14 478 --- --- --- --- SPANXN3 139067 broad.mit.edu 37 X 142605149 142605149 + Frame_Shift_Del DEL T T - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 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 11 1211 --- --- --- --- ZNF185 7739 broad.mit.edu 37 X 152087570 152087572 + In_Frame_Del DEL GAG GAG - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chrX:152087570_152087572delGAG ENST00000535861.1 + 7 523_525 c.475_477delGAG c.(475-477)del p.E165del ZNF185_ENST00000539731.1_In_Frame_Del_p.E165del|ZNF185_ENST00000370270.1_In_Frame_Del_p.E25del|ZNF185_ENST00000449285.2_In_Frame_Del_p.E165del|ZNF185_ENST00000318504.7_In_Frame_Del_p.E165del|ZNF185_ENST00000318529.8_In_Frame_Del_p.E30del|ZNF185_ENST00000370268.4_In_Frame_Del_p.E165del|ZNF185_ENST00000324823.6_In_Frame_Del_p.E30del NM_001178106.1 NP_001171577.1 O15231 ZN185_HUMAN zinc finger protein 185 (LIM domain) 165 Poly-Glu. cytoplasm|cytoskeleton|focal adhesion zinc ion binding NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3) 12 Acute lymphoblastic leukemia(192;6.56e-05) AGGGGACACCgaggaggaggagg 0.596 8 219 --- --- --- --- UBL4A 8266 broad.mit.edu 37 X 153714159 153714160 + Frame_Shift_Ins INS - - G rs150392222 TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chrX:153714159_153714160insG ENST00000369660.4 - 3 398_399 c.313_314insC c.(313-315)ccafs p.P105fs UBL4A_ENST00000477777.1_5'UTR|UBL4A_ENST00000369653.4_Frame_Shift_Ins_p.P105fs NM_014235.3 NP_055050.1 P11441 UBL4A_HUMAN ubiquitin-like 4A 105 protein modification process|tail-anchored membrane protein insertion into ER membrane|transport BAT3 complex small conjugating protein ligase activity endometrium(5)|lung(1)|urinary_tract(1) 7 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) ACTGAAGTGGCGGGCCAAGACT 0.629 15 1466 --- --- --- --- RP13-228J13.1 0 broad.mit.edu 37 X 154578866 154578866 + RNA DEL T T - TCGA-HZ-7919-01A-11D-2154-08 TCGA-HZ-7919-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bd60d-6112-4dc3-a9f8-d81ae2525b56 38e63aa2-a48f-464b-b927-ab6524cb5cc1 g.chrX:154578866delT ENST00000412436.1 - 0 98 RP13-228J13.1_ENST00000444722.1_RNA|RP13-228J13.5_ENST00000453508.1_RNA TTTCTCTCTGTTTTTTTTTTT 0.418 12 99 --- --- --- ---