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 FASTK 10922 broad.mit.edu 37 7 150776054 150776054 + Missense_Mutation SNP C C T TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr7:150776054C>T ENST00000297532.6 - 3 637 c.560G>A c.(559-561)cGc>cAc p.R187H FASTK_ENST00000540185.1_Intron|FASTK_ENST00000353841.2_Missense_Mutation_p.R46H|FASTK_ENST00000482571.1_Missense_Mutation_p.R187H|FASTK_ENST00000489884.1_5'UTR NM_006712.4 NP_006703.1 Q14296 FASTK_HUMAN Fas-activated serine/threonine kinase 187 apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing ATP binding|Fas-activated serine/threonine kinase activity|protein binding lung(4)|stomach(2) 6 OV - Ovarian serous cystadenocarcinoma(82;0.00989) UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138) CGGAGGGAGGCGGAGCCTTCG 0.622000 21 61 0 0 1 0 0 BTN2A3P 0 broad.mit.edu 37 6 26422353 26422353 + RNA SNP C C T rs141013110 TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr6:26422353C>T ENST00000466808.2 + 0 7 p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 6 437 0 0 1 0 0 QRICH2 84074 broad.mit.edu 37 17 74288692 74288692 + Missense_Mutation SNP C C A rs140703547 by1000genomes TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr17:74288692C>A ENST00000262765.5 - 4 1797 c.1618G>T c.(1618-1620)Gat>Tat p.D540Y NM_032134.1 NP_115510.1 Q9H0J4 QRIC2_HUMAN glutamine rich 2 540 Gln-rich. protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4) 62 CCATGCTGATCTGCACCAGGT 0.527000 42 343 1.59361e-14 1.71966e-14 1 1 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274020 39274020 + Missense_Mutation SNP C C G rs80129796 by1000genomes TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr17:39274020C>G ENST00000391413.2 - 1 586 c.548G>C c.(547-549)aGc>aCc p.S183T NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 183 keratin filament endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) GCGGGGGCAGCTGGAGATGAC 0.622000 4 44 0 0 1 0 0 MAD1L1 8379 broad.mit.edu 37 7 2020096 2020096 + Silent SNP G G A rs113127342 by1000genomes TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr7:2020096G>A ENST00000406869.1 - 15 2054 c.1497C>T c.(1495-1497)gaC>gaT p.D499D MAD1L1_ENST00000402746.1_Silent_p.D407D|MAD1L1_ENST00000399654.2_Silent_p.D499D|MAD1L1_ENST00000265854.7_Silent_p.D499D Q9Y6D9 MD1L1_HUMAN MAD1 mitotic arrest deficient-like 1 (yeast) 499 Necessary for interaction with NEK2. cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle protein binding central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5) 36 Ovarian(82;0.0272) UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14) ACCTGAGCGTGTCCGCCTCCT 0.617000 4 115 0 0 1 0 0 TRGV5 0 broad.mit.edu 37 7 38389495 38389495 + RNA SNP C C A rs2012300 by1000genomes TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr7:38389495C>A ENST00000390344.2 - 0 128 CTTAAAACTCCGGCCCCACTC 0.542000 6 123 4.3838e-07 4.60058e-07 1 1 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274087 39274087 + Missense_Mutation SNP G G C rs141357429 by1000genomes TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr17:39274087G>C ENST00000391413.2 - 1 519 c.481C>G c.(481-483)Ctg>Gtg p.L161V NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 161 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.L161V(1) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) ACTGGACGCAGGcagcagcag 0.657000 13 87 0 0 1 0 0 SZT2 23334 broad.mit.edu 37 1 43888983 43888983 + Missense_Mutation SNP A A G TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr1:43888983A>G ENST00000562955.1 + 15 2251 c.2251A>G c.(2251-2253)Atc>Gtc p.I751V SZT2_ENST00000372442.1_5'UTR NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 751 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 CAAACTGCTCATCAGGTTGGT 0.602000 22 126 0 0 1 0 0 DLC1 10395 broad.mit.edu 37 8 12957788 12957788 + Silent SNP C C T TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr8:12957788C>T ENST00000276297.4 - 9 2467 c.2058G>A c.(2056-2058)gcG>gcA p.A686A DLC1_ENST00000358919.2_Silent_p.A249A|DLC1_ENST00000520226.1_Silent_p.A175A|DLC1_ENST00000512044.2_Silent_p.A283A NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 686 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 GCTTTGAGGGCGCTTTGTGCT 0.557000 72 632 0 0 1 0 0 KIAA0907 22889 broad.mit.edu 37 1 155887393 155887393 + Missense_Mutation SNP T T G TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr1:155887393T>G ENST00000368320.3 - 11 1362 c.1337A>C c.(1336-1338)cAg>cCg p.Q446P KIAA0907_ENST00000368321.3_Missense_Mutation_p.Q446P Q7Z7F0 K0907_HUMAN KIAA0907 446 Pro-rich. breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1) 21 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) gggctggggctggggctgggg 0.567000 15 235 0 0 1 0 0 OR8H2 390151 broad.mit.edu 37 11 55873188 55873188 + Missense_Mutation SNP A A G TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr11:55873188A>G ENST00000313503.1 + 1 670 c.670A>G c.(670-672)Acc>Gcc p.T224A NM_001005200.1 NP_001005200.1 Q8N162 OR8H2_HUMAN olfactory receptor, family 8, subfamily H, member 2 224 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 61 Esophageal squamous(21;0.00693) CATTCTCTTTACCATCCTGAA 0.388000 HNSCC(53;0.14) 74 712 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414373 20414373 + Silent SNP G G A TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 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 7 274 0 0 1 0 0 MAPK10 5602 broad.mit.edu 37 4 86950350 86950350 + Splice_Site SNP C C A TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr4:86950350C>A ENST00000395169.3 - 13 1858 c.1138_splice c.e13+1 p.G380_splice MAPK10_ENST00000395161.2_Splice_Site_p.A418_splice|MAPK10_ENST00000449047.2_Splice_Site_p.G273_splice|MAPK10_ENST00000395160.3_Splice_Site_p.A273_splice|MAPK10_ENST00000359221.3_Splice_Site_p.G418_splice|MAPK10_ENST00000361569.2_Splice_Site_p.A418_splice|MAPK10_ENST00000395166.1_Splice_Site_p.G380_splice|MAPK10_ENST00000395157.3_Splice_Site_p.G273_splice NM_138980.2|NM_138982.2 NP_620446.1|NP_620448.1 P53779 MK10_HUMAN mitogen-activated protein kinase 10 418 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|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 cytosol|nucleoplasm ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding breast(1)|central_nervous_system(1)|stomach(1) 3 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243) OV - Ovarian serous cystadenocarcinoma(123;0.002) GAGTGAGTACCTGAAGGAGAA 0.358000 24 347 3.08376e-08 3.27221e-08 1 1 0 ZNF788 388507 broad.mit.edu 37 19 12223527 12223527 + Missense_Mutation SNP C C T TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr19:12223527C>T ENST00000339302.4 + 3 1802 c.1165C>T c.(1165-1167)Cgc>Tgc p.R389C ZNF788_ENST00000430298.2_3'UTR|ZNF788_ENST00000397759.3_Missense_Mutation_p.R8C|ZNF20_ENST00000600335.1_Intron zinc finger family member 788 endometrium(1)|haematopoietic_and_lymphoid_tissue(1) 2 TAGAGAAAAACGCTATAAATG 0.388000 4 15 0 0 1 0 0 SCN8A 6334 broad.mit.edu 37 12 52139700 52139700 + Missense_Mutation SNP T T G TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr12:52139700T>G ENST00000354534.5 + 13 2190 c.2012T>G c.(2011-2013)gTg>gGg p.V671G SCN8A_ENST00000545061.1_Missense_Mutation_p.V671G|SCN8A_ENST00000550891.1_Missense_Mutation_p.V671G NM_001177984.2|NM_014191.3 NP_001171455.1|NP_055006.1 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha subunit 671 axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) ACAACTGAGGTGGAAATTAAG 0.388000 20 192 0 0 1 0 0 ZEB2 9839 broad.mit.edu 37 2 145147456 145147456 + Silent SNP C C T TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr2:145147456C>T ENST00000558170.2 - 10 4391 c.3207G>A c.(3205-3207)tcG>tcA p.S1069S ZEB2_ENST00000303660.4_Silent_p.S1069S|ZEB2_ENST00000539609.3_Silent_p.S1045S|ZEB2_ENST00000409487.3_Silent_p.S1069S NM_014795.3 NP_055610.1 O60315 ZEB2_HUMAN zinc finger E-box binding homeobox 2 1069 cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 107 BRCA - Breast invasive adenocarcinoma(221;0.112) GCTGCGAGTACGAGCCCGAGT 0.577000 55 432 0 0 1 0 0 CCBL1 883 broad.mit.edu 37 9 131597903 131597903 + Missense_Mutation SNP C C T TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr9:131597903C>T ENST00000436267.2 - 12 1330 c.1181G>A c.(1180-1182)cGc>cAc p.R394H CCBL1_ENST00000320665.6_Missense_Mutation_p.R250H|CCBL1_ENST00000483599.1_5'UTR|CCBL1_ENST00000302586.3_Missense_Mutation_p.R300H Q16773 KAT1_HUMAN cysteine conjugate-beta lyase, cytoplasmic 300 kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process cytosol|nucleus 1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1) 18 L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114) GCTGGGTTGGCGGAAGAGCAG 0.607000 6 282 0 0 1 0 0 SAMD7 344658 broad.mit.edu 37 3 169637339 169637339 + Missense_Mutation SNP T T C TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr3:169637339T>C ENST00000428432.2 + 3 442 c.53T>C c.(52-54)aTc>aCc p.I18T SAMD7_ENST00000335556.3_Missense_Mutation_p.I18T NM_182610.2 NP_872416.1 Q7Z3H4 SAMD7_HUMAN sterile alpha motif domain containing 7 18 NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106) ATCCCACTGATCCCCTCACCA 0.423000 63 614 0 0 1 0 0 GPR114 221188 broad.mit.edu 37 16 57601845 57601845 + Missense_Mutation SNP T T C TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr16:57601845T>C ENST00000340339.4 + 9 1422 c.899T>C c.(898-900)cTg>cCg p.L300P GPR114_ENST00000394361.4_3'UTR|GPR114_ENST00000349457.3_Missense_Mutation_p.L300P NM_153837.1 NP_722579.1 Q8IZF4 GP114_HUMAN G protein-coupled receptor 114 300 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1) 23 GCCTTCCTGCTGAGCCCCGCA 0.617000 22 219 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11098863 11098863 + RNA SNP A A G rs75318310 by1000genomes TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 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 12 61 0 0 1 0 0 ARHGEF18 23370 broad.mit.edu 37 19 7527146 7527146 + Missense_Mutation SNP G G A rs146371166 TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr19:7527146G>A ENST00000359920.6 + 11 2250 c.1997G>A c.(1996-1998)cGa>cAa p.R666Q ARHGEF18_ENST00000319670.9_Missense_Mutation_p.R508Q|CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.E624K NM_001130955.1 NP_001124427.1 Q6ZSZ5 ARHGI_HUMAN Rho/Rac guanine nucleotide exchange factor (GEF) 18 666 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1) 23 Renal(5;0.0902) CCCCAGCCCCGAGGCCTATTC 0.602000 58 483 0 0 1 0 0 DCUN1D5 84259 broad.mit.edu 37 11 102933112 102933112 + Nonsense_Mutation SNP C C T TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr11:102933112C>T ENST00000260247.5 - 8 1032 c.690G>A c.(688-690)tgG>tgA p.W230* DCUN1D5_ENST00000531543.1_Nonsense_Mutation_p.W145* NM_032299.3 NP_115675.1 Q9BTE7 DCNL5_HUMAN DCN1, defective in cullin neddylation 1, domain containing 5 230 DCUN1. NS(1)|central_nervous_system(1)|endometrium(2) 4 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.00032)|Epithelial(105;0.0689)|all cancers(92;0.186) GGACTTTTTGCCACTCAACAA 0.368000 6 524 0 0 1 0 0 RANBP9 10048 broad.mit.edu 37 6 13644862 13644862 + Missense_Mutation SNP G G A TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr6:13644862G>A ENST00000011619.3 - 6 1085 c.1027C>T c.(1027-1029)Cgg>Tgg p.R343W RANBP9_ENST00000539980.1_Missense_Mutation_p.R114W NM_005493.2 NP_005484.2 Q96S59 RANB9_HUMAN RAN binding protein 9 343 axon guidance|microtubule nucleation|protein complex assembly cytosol|microtubule associated complex|nucleus Ran GTPase binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1) 16 Breast(50;0.00669)|Ovarian(93;0.0634) all_hematologic(90;0.117) Epithelial(50;0.223) CTCCACTCCCGCATATAGTCT 0.438000 84 590 0 0 1 0 0 CEACAM8 1088 broad.mit.edu 37 19 43098946 43098946 + Missense_Mutation SNP C C T rs143763173 TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr19:43098946C>T ENST00000244336.5 - 1 136 c.35G>A c.(34-36)cGc>cAc p.R12H LIPE-AS1_ENST00000594688.1_RNA|CEACAM8_ENST00000599005.1_Missense_Mutation_p.R12H|LIPE-AS1_ENST00000594624.2_RNA NM_001816.3 NP_001807.2 P31997 CEAM8_HUMAN carcinoembryonic antigen-related cell adhesion molecule 8 12 immune response anchored to membrane|extracellular space|integral to plasma membrane endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 16 Prostate(69;0.00899) CCAGGGGATGCGCCATCTGCA 0.612000 8 664 0 0 1 0 0 TUBBP5 0 broad.mit.edu 37 9 141070069 141070069 + RNA SNP C C T TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr9:141070069C>T ENST00000503395.1 + 0 1149 GGTACGTGCCCCGCGCTGTGC 0.711000 5 320 0 0 1 0 0 MEF2A 0 broad.mit.edu 37 15 100211761 100211761 + Missense_Mutation SNP C C T TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr15:100211761C>T ENST00000354410.5 + 5 924 c.295C>T c.(295-297)Cca>Tca p.P99S MEF2A_ENST00000338042.6_Intron|MEF2A_ENST00000449277.2_Intron|MEF2A_ENST00000558812.1_Intron|MEF2A_ENST00000557942.1_Intron|MEF2A_ENST00000557785.1_Intron|MEF2A_ENST00000453228.2_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 7 166 0 0 1 0 0 KRTAP10-1 386677 broad.mit.edu 37 21 45959752 45959752 + Silent SNP G G A TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr21:45959752G>A ENST00000400375.1 - 1 326 c.282C>T c.(280-282)ccC>ccT p.P94P TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron NM_198691.2 NP_941964.2 P60331 KR101_HUMAN keratin associated protein 10-1 94 24 X 5 AA repeats of C-C-X(3). keratin filament breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1) 11 cctgctggcagggggaggagg 0.662000 7 607 0 0 1 0 0 EPB41L4B 54566 broad.mit.edu 37 9 111970268 111970268 + Missense_Mutation SNP G G A TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr9:111970268G>A ENST00000374566.3 - 18 2331 c.1814C>T c.(1813-1815)gCg>gTg p.A605V NM_019114.3 NP_061987.3 Q9H329 E41LB_HUMAN erythrocyte membrane protein band 4.1 like 4B 605 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|structural constituent of cytoskeleton NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CACATGATCCGCAACAGGGGA 0.423000 6 578 0 0 1 0 0 ANKRD36BP2 0 broad.mit.edu 37 2 89082281 89082281 + RNA SNP T T C TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr2:89082281T>C ENST00000393525.3 + 0 503 GCTGAGAAGGTAATTAAAGTC 0.323000 3 194 0 0 1 0 0 POM121L9P 0 broad.mit.edu 37 22 24659734 24659734 + RNA SNP T T C TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr22:24659734T>C ENST00000414583.2 + 0 3259 NR_003714.1 CTCTCTCCTGTGGGAGGGGGG 0.632000 4 83 0 0 1 0 0 KSR2 283455 broad.mit.edu 37 12 118105363 118105363 + Missense_Mutation SNP G G A TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr12:118105363G>A ENST00000425217.1 - 5 1054 c.1000C>T c.(1000-1002)Cgc>Tgc p.R334C KSR2_ENST00000302438.5_Missense_Mutation_p.R60C|KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000339824.5_Missense_Mutation_p.R363C NM_173598.4 NP_775869.3 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 363 intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CGGAGGGAGCGCTCGGACAGC 0.592000 25 70 0 0 1 0 0 SUSD2 56241 broad.mit.edu 37 22 24583191 24583191 + Missense_Mutation SNP C C T TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr22:24583191C>T ENST00000358321.3 + 11 1925 c.1664C>T c.(1663-1665)gCc>gTc p.A555V NM_019601.3 NP_062547.1 Q9UGT4 SUSD2_HUMAN sushi domain containing 2 555 VWFD. immune response integral to membrane polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 26 TCGGTGGCTGCCGGGGACAGG 0.652000 5 273 0 0 1 0 0 ZC3H4 23211 broad.mit.edu 37 19 47575255 47575255 + Silent SNP A A C rs73943611 by1000genomes TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr19:47575255A>C ENST00000253048.5 - 13 1963 c.1926T>G c.(1924-1926)ccT>ccG p.P642P ZC3H4_ENST00000594019.1_Intron NM_015168.1 NP_055983.1 Q9UPT8 ZC3H4_HUMAN zinc finger CCCH-type containing 4 642 Pro-rich. nucleic acid binding|zinc ion binding NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 41 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) cgtgcatgtcagggtgcatgt 0.662000 7 65 0 0 1 0 0 UPF3A 65110 broad.mit.edu 37 13 115047559 115047559 + Silent SNP C C T TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr13:115047559C>T ENST00000375299.3 + 2 327 c.271C>T c.(271-273)Ctg>Ttg p.L91L UPF3A_ENST00000351487.5_Silent_p.L91L NM_023011.3 NP_075387.1 Q9H1J1 REN3A_HUMAN UPF3 regulator of nonsense transcripts homolog A (yeast) 91 Required for interaction with UPF2. mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation cytoplasm|nucleus|plasma membrane nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding p.L91L(8) autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 16 Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238) BRCA - Breast invasive adenocarcinoma(86;0.0886) OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2) GCTGCGCCCGCTGCCAGCACA 0.731000 4 51 0 0 1 0 0 KRTAP26-1 388818 broad.mit.edu 37 21 31692255 31692255 + Silent SNP G G A TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr21:31692255G>A ENST00000360542.3 - 1 352 c.99C>T c.(97-99)agC>agT p.S33S NM_203405.1 NP_981950.1 Q6PEX3 KR261_HUMAN keratin associated protein 26-1 33 intermediate filament endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 16 CACAGCTCACGCTGGTAGGGC 0.552000 64 412 0 0 1 0 0 CR1 1378 broad.mit.edu 37 1 207787753 207787753 + Nonsense_Mutation SNP C C T rs55749440 TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr1:207787753C>T ENST00000367049.4 + 40 6580 c.6580C>T c.(6580-6582)Cga>Tga p.R2194* CR1_ENST00000400960.2_Nonsense_Mutation_p.R1744*|CR1_ENST00000367053.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000367052.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000367051.1_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 5 237 0 0 1 0 0 KRTAP4-7 100132476 broad.mit.edu 37 17 39240908 39240908 + Silent SNP T T C TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr17:39240908T>C ENST00000391417.4 + 1 450 c.450T>C c.(448-450)tgT>tgC p.C150C NM_033061.3 NP_149050.3 keratin associated protein 4-7 p.C150C(1) NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1) 9 CCTTGTGCTGTGCCTCCTCTT 0.607000 5 35 0 0 1 0 0 ACTN3 89 broad.mit.edu 37 11 66330622 66330622 + RNA SNP C C T rs79516407 by1000genomes TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr11:66330622C>T ENST00000513398.1 + 0 2761 ACTN3_ENST00000502692.1_RNA NM_001104.2 NP_001095.1 Q08043 ACTN3_HUMAN actinin, alpha 3 (gene/pseudogene) focal adhesion assembly|muscle filament sliding|regulation of apoptosis actin filament|cytosol|focal adhesion|pseudopodium actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2) 10 CCCTGGACTACGTGGCCTTCT 0.632000 58 298 0 0 1 0 0 FAM104B 90736 broad.mit.edu 37 X 55185620 55185620 + Missense_Mutation SNP G G C TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chrX:55185620G>C ENST00000425133.2 - 2 100 c.62C>G c.(61-63)tCc>tGc p.S21C FAM104B_ENST00000358460.4_Missense_Mutation_p.S21C|FAM104B_ENST00000332132.4_Missense_Mutation_p.S21C|FAM104B_ENST00000472571.2_Missense_Mutation_p.S21C|FAM104B_ENST00000489298.1_Missense_Mutation_p.S20C|FAM104B_ENST00000477847.2_Missense_Mutation_p.S18C|FAM104B_ENST00000478918.1_5'UTR 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 21 endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 8 GGGCTGGGTGGAATGATGGTT 0.383000 5 291 0 0 1 0 0 CEP170B 283638 broad.mit.edu 37 14 105361169 105361169 + Silent SNP A A C TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr14:105361169A>C ENST00000453495.1 + 19 4875 c.4647A>C c.(4645-4647)tcA>tcC p.S1549S CEP170B_ENST00000418279.1_Silent_p.S1443S|CEP170B_ENST00000414716.3_Silent_p.S1513S|CEP170B_ENST00000556508.1_Silent_p.S1478S centrosomal protein 170B p.S1513S(3)|p.S1479S(3)|p.S1478S(1) GCCCACCCTCACCCGCCTCAG 0.711000 17 98 0 0 1 0 0 TBX20 57057 broad.mit.edu 37 7 35271146 35271146 + Missense_Mutation SNP C C T TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr7:35271146C>T ENST00000408931.3 - 6 1386 c.860G>A c.(859-861)cGg>cAg p.R287Q NM_001077653.2|NM_001166220.1 NP_001071121.1|NP_001159692.1 Q9UMR3 TBX20_HUMAN T-box 20 287 nucleus DNA binding central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1) 18 GGAGGAATCCCGGAATCCTTT 0.378000 29 275 0 0 1 0 0 TMEM130 222865 broad.mit.edu 37 7 98453722 98453722 + Silent SNP C C T TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr7:98453722C>T ENST00000450876.1 - 4 1699 c.384G>A c.(382-384)gcG>gcA p.A128A TMEM130_ENST00000546258.1_Silent_p.A193A|TMEM130_ENST00000345589.4_Silent_p.A110A|TMEM130_ENST00000339375.4_Silent_p.A212A|TMEM130_ENST00000416379.2_Silent_p.A212A Q8N3G9 TM130_HUMAN transmembrane protein 130 212 Golgi membrane|integral to membrane p.A212A(1) breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 25 all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) CTTCCCACTCCGCCACCACTT 0.587000 23 182 0 0 1 0 0 RBM5 10181 broad.mit.edu 37 3 50141711 50141711 + Missense_Mutation SNP A A G TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr3:50141711A>G ENST00000347869.3 + 8 773 c.598A>G c.(598-600)Aaa>Gaa p.K200E NM_005778.3 NP_005769.1 P52756 RBM5_HUMAN RNA binding motif protein 5 200 apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly nucleoplasm|spliceosomal complex DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2) 19 BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GAAAAGACTAAAATGCTTCCG 0.398000 57 201 0 0 1 0 0 SNORA7B 0 broad.mit.edu 37 3 129116166 129116166 + RNA SNP G G C TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr3:129116166G>C ENST00000384360.1 - 0 25 RPL32P3_ENST00000514355.1_RNA NR_002992.2 ATACTAGGCAGTCTCCAGATG 0.542000 8 819 0 0 1 0 0 CAMK4 814 broad.mit.edu 37 5 110819841 110819841 + Missense_Mutation SNP G G A TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr5:110819841G>A ENST00000282356.4 + 11 1497 c.1099G>A c.(1099-1101)Gag>Aag p.E367K CAMK4_ENST00000512890.1_3'UTR|CAMK4_ENST00000512453.1_Missense_Mutation_p.E367K NM_001744.4 NP_001735.1 Q16566 KCC4_HUMAN calcium/calmodulin-dependent protein kinase IV 367 activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission cytosol|nucleoplasm ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1) 30 all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109) AGATGGCAACGAGGACATGAA 0.577000 41 446 0 0 1 0 0 SRMS 6725 broad.mit.edu 37 20 62172886 62172886 + Missense_Mutation SNP C C T TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr20:62172886C>T ENST00000217188.1 - 6 1074 c.1034G>A c.(1033-1035)cGc>cAc p.R345H NM_080823.2 NP_543013.1 Q9H3Y6 SRMS_HUMAN src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites 345 Protein kinase. ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1) 19 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06) GTGCACAACGCGCTGCTCCTC 0.706000 12 71 0 0 1 0 0 TRBV5-4 0 broad.mit.edu 37 7 142168890 142168890 + RNA SNP C C T rs143671051 by1000genomes TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr7:142168890C>T ENST00000454561.2 - 0 155 GGGCTTGGTCCTCCTGGGGAA 0.592000 5 134 0 0 1 0 0 FAM155A 728215 broad.mit.edu 37 13 108518661 108518661 + Missense_Mutation SNP T T C TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 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 6 210 0 0 1 0 0 AMPH 273 broad.mit.edu 37 7 38433731 38433731 + Silent SNP C C T TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr7:38433731C>T ENST00000356264.2 - 18 1697 c.1482G>A c.(1480-1482)gcG>gcA p.A494A AMPH_ENST00000325590.5_Silent_p.A452A|AMPH_ENST00000471913.1_5'UTR|AMPH_ENST00000428293.2_Silent_p.A452A NM_001635.3 NP_001626.1 P49418 AMPH_HUMAN amphiphysin 494 endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2) 62 TGGCCTTCTCCGCCTCTGCTT 0.572000 79 909 0 0 1 0 0 CETP 1071 broad.mit.edu 37 16 57003893 57003893 + Silent SNP G G A TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr16:57003893G>A ENST00000200676.3 + 5 637 c.507G>A c.(505-507)ctG>ctA p.L169L CETP_ENST00000566128.1_Silent_p.L104L|CETP_ENST00000379780.2_Silent_p.L169L|CETP_ENST00000569082.1_3'UTR NM_000078.2 NP_000069.2 P11597 CETP_HUMAN cholesteryl ester transfer protein, plasma 169 cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling high-density lipoprotein particle|vesicle cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3) 23 AGCTGCTCCTGCATCTCCAAG 0.602000 4 166 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196729627 196729627 + Missense_Mutation SNP C C T TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr2:196729627C>T ENST00000312428.6 - 41 6852 c.6752G>A c.(6751-6753)cGt>cAt p.R2251H NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2251 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 AAAATCCAAACGCTGAAAAAG 0.403000 168 592 0 0 1 0 0 RP11-178C3.2 0 broad.mit.edu 37 17 58066651 58066651 + RNA SNP C C T rs144367363 by1000genomes TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr17:58066651C>T ENST00000586209.1 + 0 158 ACTGGTAAAGCTGTTTAAGAG 0.333000 4 58 0 0 1 0 0 CHRD 8646 broad.mit.edu 37 3 184104344 184104344 + Missense_Mutation SNP T T G TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr3:184104344T>G ENST00000204604.1 + 16 2243 c.1997T>G c.(1996-1998)gTg>gGg p.V666G CHRD_ENST00000348986.3_Missense_Mutation_p.V626G|CHRD_ENST00000450923.1_Missense_Mutation_p.V666G|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000545352.1_Intron NM_003741.2 NP_003732.2 Q9H2X0 CHRD_HUMAN chordin 666 BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development extracellular space cytokine binding NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GCCGAGGGGGTGCGGGCGCTG 0.726000 7 35 0 0 1 0 0 LMCD1 29995 broad.mit.edu 37 3 8607273 8607273 + Silent SNP A A C TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr3:8607273A>C ENST00000157600.3 + 5 1111 c.879A>C c.(877-879)gcA>gcC p.A293A LMCD1_ENST00000454244.1_Silent_p.A220A|LMCD1_ENST00000397386.3_Silent_p.A181A|LMCD1-AS1_ENST00000439407.1_RNA NM_014583.2 NP_055398.1 Q9NZU5 LMCD1_HUMAN LIM and cysteine-rich domains 1 293 LIM zinc-binding 1. positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent cytoplasm|extracellular space|nucleus transcription corepressor activity|zinc ion binding breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1) 16 OV - Ovarian serous cystadenocarcinoma(96;0.124) AGGATGGTGCACCCTGGTGCG 0.632000 25 141 0 0 1 0 0 KRTAP4-7 100132476 broad.mit.edu 37 17 39240900 39240900 + Missense_Mutation SNP T T G rs61746948 TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr17:39240900T>G ENST00000391417.4 + 1 442 c.442T>G c.(442-444)Ttg>Gtg p.L148V NM_033061.3 NP_149050.3 keratin associated protein 4-7 NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1) 9 TCCCCGCCCCTTGTGCTGTGC 0.627000 5 37 0 0 1 0 0 GOLGA8DP 0 broad.mit.edu 37 15 22709020 22709020 + RNA SNP C C T rs150718647 by1000genomes TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr15:22709020C>T ENST00000314246.8 - 0 1376 GGCCAGCTGCCGAAGCCTCTC 0.622000 16 141 0 0 1 0 0 ESPL1 9700 broad.mit.edu 37 12 53683280 53683280 + Missense_Mutation SNP G G A TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr12:53683280G>A ENST00000257934.4 + 22 5106 c.5015G>A c.(5014-5016)cGc>cAc p.R1672H ESPL1_ENST00000552462.1_Missense_Mutation_p.R1672H NM_012291.4 NP_036423.4 Q14674 ESPL1_HUMAN extra spindle pole bodies homolog 1 (S. cerevisiae) 1672 apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis centrosome|nucleus cysteine-type peptidase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8) 70 CCCCTGGCCCGCATCCAGCGC 0.597000 7 535 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22661478 22661478 + RNA SNP T T G TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr22:22661478T>G ENST00000426066.1 + 0 368 NR_027293.1 CAGATGCGTCTGAAGAAACAT 0.488000 5 326 0 0 1 0 0 NUAK1 9891 broad.mit.edu 37 12 106532400 106532400 + Missense_Mutation SNP T T C TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr12:106532400T>C ENST00000261402.2 - 1 1411 c.32A>G c.(31-33)gAc>gGc p.D11G NM_014840.2 NP_055655.1 O60285 NUAK1_HUMAN NUAK family, SNF1-like kinase, 1 11 ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 37 GTCGGGGCGGTCCCCCGCCAC 0.771000 5 18 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38958370 38958370 + Missense_Mutation SNP G G A TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr19:38958370G>A ENST00000355481.4 + 25 3430 c.3299G>A c.(3298-3300)cGc>cAc p.R1100H RYR1_ENST00000359596.3_Missense_Mutation_p.R1100H|RYR1_ENST00000360985.3_Missense_Mutation_p.R1100H NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 1100 6 X approximate repeats.|B30.2/SPRY 2. 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) GGCGAGATGCGCGTGGGCTGG 0.627000 50 637 0 0 1 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33561211 33561211 + Missense_Mutation SNP G G A TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr5:33561211G>A ENST00000504830.1 - 20 4381 c.4046C>T c.(4045-4047)gCg>gTg p.A1349V ADAMTS12_ENST00000352040.3_Missense_Mutation_p.A1264V NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 1349 TSP type-1 5. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 CTGGATGGCCGCACAGTCAGA 0.572000 HNSCC(64;0.19) 8 666 0 0 1 0 0 TUSC3 7991 broad.mit.edu 37 8 15601118 15601118 + Missense_Mutation SNP C C T TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr8:15601118C>T ENST00000382020.4 + 8 1142 c.934C>T c.(934-936)Cgg>Tgg p.R312W TUSC3_ENST00000506802.1_Missense_Mutation_p.R312W|TUSC3_ENST00000503731.1_Missense_Mutation_p.R312W NM_178234.2 NP_839952.1 Q13454 TUSC3_HUMAN tumor suppressor candidate 3 312 cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2) 28 Colorectal(111;0.113) TGGAAAAAGACGGAGTAAGTC 0.393000 26 815 0 0 1 0 0 ZNF536 9745 broad.mit.edu 37 19 30935498 30935498 + Silent SNP C C T TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr19:30935498C>T ENST00000355537.3 + 2 1176 c.1029C>T c.(1027-1029)aaC>aaT p.N343N NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 343 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) AGTCGGCCAACGAGTTCCGCT 0.647000 124 1123 0 0 1 0 0 NBPF14 25832 broad.mit.edu 37 1 148012531 148012531 + Silent SNP C C T TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr1:148012531C>T ENST00000369219.1 - 12 1444 c.1428G>A c.(1426-1428)aaG>aaA p.K476K Q5TI25 NBPFE_HUMAN neuroblastoma breakpoint family, member 14 476 NBPF 5. cytoplasm p.K476K(2)|p.K476N(1) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1) 42 all_hematologic(923;0.032) AGCCAACATGCTTTTCCTCCA 0.443000 5 67 0 0 1 0 0 LAP3 51056 broad.mit.edu 37 4 17579127 17579127 + Silent SNP C C G TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr4:17579127C>G ENST00000226299.4 + 1 313 c.39C>G c.(37-39)gtC>gtG p.V13V LAP3_ENST00000606142.1_5'UTR NM_015907.2 NP_056991.2 P28838 AMPL_HUMAN leucine aminopeptidase 3 13 proteolysis nucleus aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1) 20 GGCGAGTAGTCGTCCGACGTC 0.697000 5 37 0 0 1 0 0 SCAND3 114821 broad.mit.edu 37 6 28539892 28539892 + Silent SNP A A G TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr6:28539892A>G ENST00000452236.2 - 4 4391 c.3774T>C c.(3772-3774)ccT>ccC p.P1258P NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 1258 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 cagcaagctcaggatagtcat 0.358000 13 351 0 0 1 0 0 CDH22 64405 broad.mit.edu 37 20 44838993 44838993 + Silent SNP G G T TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr20:44838993G>T ENST00000372262.3 - 6 1639 c.1239C>A c.(1237-1239)gtC>gtA p.V413V CDH22_ENST00000537909.1_Silent_p.V413V|CDH22_ENST00000474438.1_5'UTR NM_021248.1 NP_067071.1 Q9UJ99 CAD22_HUMAN cadherin 22, type 2 413 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 44 Myeloproliferative disorder(115;0.0122) TCACCACGCCGACCAGGGAGC 0.771000 6 32 0.00116845 0.00119986 1 1 0 PDGFRB 5159 broad.mit.edu 37 5 149506172 149506172 + Missense_Mutation SNP G G A TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr5:149506172G>A ENST00000261799.4 - 11 2054 c.1585C>T c.(1585-1587)Ccc>Tcc p.P529S NM_002609.3 NP_002600.1 P09619 PGFRB_HUMAN platelet-derived growth factor receptor, beta polypeptide 529 aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1) 75 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) ACCTTAAAGGGCAAGGCTGGA 0.557000 T """ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP""" """MPD, AML, CMML, CML""" 4 236 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34068135 34068135 + Missense_Mutation SNP C C A TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr1:34068135C>A ENST00000373381.4 - 43 6720 c.6544G>T c.(6544-6546)Ggg>Tgg p.G2182W CSMD2_ENST00000373388.2_Missense_Mutation_p.G281W|CSMD2_ENST00000373380.1_Missense_Mutation_p.G1055W|CSMD2_ENST00000373377.1_Missense_Mutation_p.G281W NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2184 CUB 13. integral to membrane|plasma membrane protein binding p.G2184W(1) NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GTGATGTTCCCGCCACAAGGG 0.592000 4 58 0.150653 0.151446 1 1 0 PROP1 5626 broad.mit.edu 37 5 177421251 177421251 + Silent SNP C C T TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr5:177421251C>T ENST00000308304.2 - 2 506 c.198G>A c.(196-198)ccG>ccA p.P66P NM_006261.4 NP_006252.3 O75360 PROP1_HUMAN PROP paired-like homeobox 1 66 central nervous system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.P66P(2) endometrium(1)|large_intestine(2)|lung(9)|stomach(1) 13 all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCCGGGAGTGCGGGCGGCCCC 0.662000 5 393 0 0 1 0 0 RP11-85G18.6 0 broad.mit.edu 37 10 27535842 27535842 + RNA SNP C C T TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr10:27535842C>T ENST00000574842.1 + 0 255 AAGTTGAATGCAGTCCCAGCG 0.458000 5 417 0 0 1 0 0 PRF1 5551 broad.mit.edu 37 10 72358782 72358782 + Missense_Mutation SNP C C T TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr10:72358782C>T ENST00000441259.1 - 3 855 c.695G>A c.(694-696)cGc>cAc p.R232H PRF1_ENST00000373209.2_Missense_Mutation_p.R232H NM_001083116.1|NM_005041.4 NP_001076585.1|NP_005032.2 P14222 PERF_HUMAN perforin 1 (pore forming protein) 232 MACPF. apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane calcium ion binding|protein binding|wide pore channel activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3) 23 GGCCGATATGCGGCCACCCAG 0.657000 M """various leukaemia, lymphoma""" Type 2 familial hemophagocytic lymphohistiocytosis Familial Hemophagocytic Lymphohistiocytosis 5 334 0 0 1 0 0 PLIN4 729359 broad.mit.edu 37 19 4513206 4513206 + Missense_Mutation SNP C C T TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr19:4513206C>T ENST00000301286.3 - 3 723 c.724G>A c.(724-726)Ggt>Agt p.G242S NM_001080400.1 NP_001073869.1 Q96Q06 PLIN4_HUMAN perilipin 4 242 27 X 33 AA approximate tandem repeat. lipid particle|plasma membrane p.G170S(1)|p.G242S(1) NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2) 41 GTGTCCACACCGGTCTGAATG 0.572000 30 1035 0 0 1 0 0 KLF12 11278 broad.mit.edu 37 13 74420080 74420080 + Missense_Mutation SNP C C T TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr13:74420080C>T ENST00000377669.2 - 3 580 c.554G>A c.(553-555)cGc>cAc p.R185H KLF12_ENST00000472022.1_5'UTR|KLF12_ENST00000377666.4_Missense_Mutation_p.R185H NM_007249.4 NP_009180.3 Q9Y4X4 KLF12_HUMAN Kruppel-like factor 12 185 negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 16 Prostate(6;0.00217)|Breast(118;0.0838) GBM - Glioblastoma multiforme(99;0.00677) CACGGGGATGCGGTGAACATG 0.502000 5 388 0 0 1 0 0 MUL1 79594 broad.mit.edu 37 1 20827710 20827710 + Missense_Mutation SNP G G A TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr1:20827710G>A ENST00000264198.3 - 4 668 c.532C>T c.(532-534)Cgg>Tgg p.R178W NM_024544.2 NP_078820.2 Q969V5 MUL1_HUMAN mitochondrial E3 ubiquitin protein ligase 1 178 activation of caspase activity|activation of JUN kinase activity|induction of apoptosis|mitochondrial fission|mitochondrion localization|negative regulation of cell growth|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to mitochondrial outer membrane|nucleus|peroxisome identical protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding p.R178W(1) endometrium(2)|large_intestine(4)|lung(5) 11 Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198) CCTTTGGGCCGCTCACCGCTG 0.582000 8 702 0 0 1 0 0 ZNF679 168417 broad.mit.edu 37 7 63726845 63726845 + Silent SNP C C T TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr7:63726845C>T ENST00000421025.1 + 5 1103 c.834C>T c.(832-834)agC>agT p.S278S ZNF679_ENST00000255746.4_Silent_p.S278S NM_001159524.1|NM_153363.2 NP_001152996.1|NP_699194.2 Q8IYX0 ZN679_HUMAN zinc finger protein 679 278 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1) 18 AAGCCTTTAGCCGCTCCTCAA 0.438000 5 292 0 0 1 0 0 NID2 22795 broad.mit.edu 37 14 52495453 52495453 + Silent SNP C C T TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr14:52495453C>T ENST00000216286.5 - 11 2516 c.2517G>A c.(2515-2517)cgG>cgA p.R839R NID2_ENST00000541773.1_Silent_p.R786R NM_007361.3 NP_031387.3 Q14112 NID2_HUMAN nidogen 2 (osteonidogen) 839 EGF-like 3; calcium-binding (Potential). basement membrane calcium ion binding|collagen binding NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 87 Breast(41;0.0639)|all_epithelial(31;0.123) TGCAAGTATGCCGGTCATCTG 0.453000 5 349 0 0 1 0 0 CCT6P1 0 broad.mit.edu 37 7 65222986 65222986 + RNA SNP G G T TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr7:65222986G>T ENST00000442266.1 + 0 578 GAATTCTGGCGTTTTTTACAA 0.289000 5 85 5.18039e-06 5.40686e-06 1 1 0 WBSCR27 155368 broad.mit.edu 37 7 73249275 73249275 + Missense_Mutation SNP G G C TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr7:73249275G>C ENST00000297873.4 - 6 585 c.536C>G c.(535-537)gCt>gGt p.A179G NM_152559.2 NP_689772.2 Q8N6F8 WBS27_HUMAN Williams Beuren syndrome chromosome region 27 179 NS(1)|central_nervous_system(1)|lung(2)|prostate(1) 5 Lung NSC(55;0.159) GGCCTCCAGAGCCTCCTTGTA 0.662000 63 267 0 0 1 0 0 KIFC3 3801 broad.mit.edu 37 16 57829005 57829005 + Missense_Mutation SNP C C T TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr16:57829005C>T ENST00000379655.4 - 3 478 c.221G>A c.(220-222)cGa>cAa p.R74Q KIFC3_ENST00000541240.1_Missense_Mutation_p.R96Q|KIFC3_ENST00000539578.1_5'UTR|KIFC3_ENST00000445690.2_Missense_Mutation_p.R74Q|KIFC3_ENST00000421376.2_5'UTR|KIFC3_ENST00000566975.1_5'UTR|KIFC3_ENST00000465878.2_5'UTR NM_005550.3 NP_005541.3 Q9BVG8 KIFC3_HUMAN kinesin family member C3 74 epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens ATP binding|microtubule motor activity breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 all_neural(199;0.224) AGCTGCACTTCGGGCACTGGA 0.637000 27 182 0 0 1 0 0 APBA1 320 broad.mit.edu 37 9 72131100 72131100 + Missense_Mutation SNP G G A TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr9:72131100G>A ENST00000265381.4 - 2 1249 c.1027C>T c.(1027-1029)Cgc>Tgc p.R343C NM_001163.3 NP_001154.2 Q02410 APBA1_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 1 343 axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission synaptic vesicle endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3) 37 ATGGCATCGCGCTTCTCCTTG 0.706000 25 394 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3240231 3240231 + Silent SNP C C T TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chrX:3240231C>T ENST00000217939.6 - 5 3649 c.3495G>A c.(3493-3495)cgG>cgA p.R1165R NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 1165 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) TTTGCTTGTGCCGGTGGCGGA 0.498000 5 471 0 0 1 0 0 ZC3H4 23211 broad.mit.edu 37 19 47575243 47575243 + Silent SNP T T A rs392366 TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr19:47575243T>A ENST00000253048.5 - 13 1975 c.1938A>T c.(1936-1938)gcA>gcT p.A646A ZC3H4_ENST00000594019.1_Intron NM_015168.1 NP_055983.1 Q9UPT8 ZC3H4_HUMAN zinc finger CCCH-type containing 4 646 Pro-rich. nucleic acid binding|zinc ion binding NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 41 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) cgtgcatgtctgcgtgcatgt 0.662000 3 83 0 0 1 0 0 STXBP5 0 broad.mit.edu 37 6 147525792 147525792 + Nonsense_Mutation SNP C C T TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr6:147525792C>T ENST00000367481.3 + 1 232 c.124C>T c.(124-126)Cag>Tag p.Q42* STXBP5_ENST00000367480.3_Nonsense_Mutation_p.Q42*|STXBP5_ENST00000321680.6_Nonsense_Mutation_p.Q42*|STXBP5_ENST00000546097.1_Nonsense_Mutation_p.Q42* NM_139244.4 NP_640337.3 Q5T5C0 STXB5_HUMAN syntaxin binding protein 5 (tomosyn) 42 exocytosis|positive regulation of exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle syntaxin-1 binding breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 42 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694) GGAAACGCTCCAGTCCGAGCA 0.632000 17 156 0 0 1 0 0 FANCC 2176 broad.mit.edu 37 9 97864014 97864014 + Missense_Mutation SNP A A G TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr9:97864014A>G ENST00000289081.3 - 15 1906 c.1652T>C c.(1651-1653)cTt>cCt p.L551P FANCC_ENST00000375305.1_Missense_Mutation_p.L551P NM_000136.2 NP_000127.2 Q00597 FANCC_HUMAN Fanconi anemia, complementation group C 551 protein complex assembly cytosol|nucleoplasm protein binding kidney(1)|skin(1)|upper_aerodigestive_tract(1) 3 Acute lymphoblastic leukemia(62;0.138) CAGCTCTTTAAGGAGCTCTCG 0.542000 """D, Mis, N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 18 180 0 0 1 0 0 NLGN3 54413 broad.mit.edu 37 X 70389238 70389238 + Missense_Mutation SNP G G A TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chrX:70389238G>A ENST00000374051.3 + 7 2100 c.1778G>A c.(1777-1779)cGa>cAa p.R593Q NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000536169.1_Missense_Mutation_p.R573Q|NLGN3_ENST00000358741.3_Missense_Mutation_p.R613Q NM_018977.3 NP_061850.2 Q9NZ94 NLGN3_HUMAN neuroligin 3 613 neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly cell surface|endocytic vesicle|integral to plasma membrane|synapse neurexin binding|receptor activity biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 37 Renal(35;0.156) CCAAGGGTCCGAGATCATTAC 0.522000 17 48 0 0 1 0 0 ZC3H4 23211 broad.mit.edu 37 19 47575245 47575245 + Missense_Mutation SNP C C G rs381976 TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr19:47575245C>G ENST00000253048.5 - 13 1973 c.1936G>C c.(1936-1938)Gca>Cca p.A646P ZC3H4_ENST00000594019.1_Intron NM_015168.1 NP_055983.1 Q9UPT8 ZC3H4_HUMAN zinc finger CCCH-type containing 4 646 Pro-rich. nucleic acid binding|zinc ion binding NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 41 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) tgcatgtctgcgtgcatgtca 0.662000 4 76 0 0 1 0 0 COL25A1 84570 broad.mit.edu 37 4 109784477 109784477 + Missense_Mutation SNP T T C TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr4:109784477T>C ENST00000399132.1 - 21 1680 c.1150A>G c.(1150-1152)Aag>Gag p.K384E COL25A1_ENST00000399126.1_Missense_Mutation_p.K384E|COL25A1_ENST00000399127.1_Missense_Mutation_p.K380E NM_198721.2 NP_942014.1 Q9BXS0 COPA1_HUMAN collagen, type XXV, alpha 1 384 Collagen-like 5. collagen|extracellular space beta-amyloid binding|heparin binding NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 49 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000173) TAACTCACCTTTGGTCCGGGG 0.438000 26 181 0 0 1 0 0 HAND2 9464 broad.mit.edu 37 4 174450243 174450243 + Silent SNP G G A TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr4:174450243G>A ENST00000359562.4 - 1 1137 c.198C>T c.(196-198)ccC>ccT p.P66P HAND2-AS1_ENST00000512099.1_RNA|HAND2-AS1_ENST00000515310.1_RNA|HAND2_ENST00000505300.1_5'UTR NM_021973.2 NP_068808.1 P61296 HAND2_HUMAN heart and neural crest derivatives expressed 2 66 adult heart development|angiogenesis|apoptosis|cardiac neural crest cell development involved in outflow tract morphogenesis|heart looping|in utero embryonic development|negative regulation of cardiac muscle cell apoptosis|noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|regulation of secondary heart field cardioblast proliferation|thymus development nuclear chromatin|transcription factor complex activating transcription factor binding|protein homodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|transcription coactivator activity endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1) 13 Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107) all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249) TGGCATACTCGGGGCTGTAGG 0.741000 8 60 0 0 1 0 0 PI4KA 5297 broad.mit.edu 37 22 21064273 21064273 + Silent SNP G G A TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr22:21064273G>A ENST00000255882.6 - 53 6182 c.6096C>T c.(6094-6096)gaC>gaT p.D2032D PI4KA_ENST00000414196.3_Silent_p.D784D|PI4KA_ENST00000572273.1_Silent_p.D1974D NM_058004.3 NP_477352.3 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase, catalytic, alpha 1974 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 79 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) AGACGACCGCGTCCATGTAGG 0.612000 5 383 0 0 1 0 0 DMGDH 29958 broad.mit.edu 37 5 78326807 78326807 + Missense_Mutation SNP C C T TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr5:78326807C>T ENST00000255189.3 - 10 1560 c.1532G>A c.(1531-1533)cGc>cAc p.R511H DMGDH_ENST00000380311.4_Missense_Mutation_p.R310H|DMGDH_ENST00000540686.1_Missense_Mutation_p.R131H NM_013391.2 NP_037523.2 Q9UI17 M2GD_HUMAN dimethylglycine dehydrogenase 511 choline metabolic process|glycine catabolic process mitochondrial matrix aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 34 all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192) OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35) CCAGTTTGTGCGGCGAAAACT 0.398000 5 264 0 0 1 0 0 ZNF202 7753 broad.mit.edu 37 11 123597658 123597658 + Missense_Mutation SNP C C G TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr11:123597658C>G ENST00000336139.4 - 8 1356 c.994G>C c.(994-996)Gat>Cat p.D332H ZNF202_ENST00000530393.1_Missense_Mutation_p.D332H|ZNF202_ENST00000529691.1_Missense_Mutation_p.D332H O95125 ZN202_HUMAN zinc finger protein 202 332 lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 30 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03) AAACTCAGATCTTCCTGCTCC 0.468000 174 1483 0 0 1 0 0 POTEA 340441 broad.mit.edu 37 8 43197470 43197470 + RNA SNP C C T TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr8:43197470C>T ENST00000522175.2 + 0 1223 Q6S8J7 POTEA_HUMAN POTE ankyrin domain family, member A breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 TGGATTTTAACGGTAGGACCA 0.373000 7 741 0 0 1 0 0 ACHE 43 broad.mit.edu 37 7 100491142 100491142 + Missense_Mutation SNP C C T TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr7:100491142C>T ENST00000302913.4 - 2 850 c.712G>A c.(712-714)Gcc>Acc p.A238T ACHE_ENST00000411582.1_Missense_Mutation_p.A238T|ACHE_ENST00000419336.2_Missense_Mutation_p.A238T|ACHE_ENST00000241069.5_Missense_Mutation_p.A238T|ACHE_ENST00000412389.1_Missense_Mutation_p.A238T|ACHE_ENST00000428317.1_Missense_Mutation_p.A238T NM_015831.2 NP_056646.1 P22303 ACES_HUMAN acetylcholinesterase 238 acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity large_intestine(3)|lung(7)|skin(3)|urinary_tract(3) 16 Lung NSC(181;0.041)|all_lung(186;0.0581) Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199) CCCACCGAGGCGGCTCCCGCG 0.706000 37 406 0 0 1 0 0 SLC25A23 79085 broad.mit.edu 37 19 6452423 6452423 + Missense_Mutation SNP C C T rs61729423 byFrequency TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr19:6452423C>T ENST00000301454.4 - 8 1077 c.971G>A c.(970-972)cGt>cAt p.R324H SLC25A23_ENST00000334510.5_Missense_Mutation_p.R324H|SLC25A23_ENST00000414491.2_Intron NM_024103.2 NP_077008.2 Q9BV35 SCMC3_HUMAN solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23 324 transmembrane transport integral to membrane|mitochondrial inner membrane calcium ion binding endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1) 17 CTCCAGGATACGCCTGGCGCA 0.652000 45 135 0 0 1 0 0 ZNF700 90592 broad.mit.edu 37 19 12059966 12059966 + Nonsense_Mutation SNP C C G TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr19:12059966C>G ENST00000482090.1 + 3 1491 c.1073C>G c.(1072-1074)tCa>tGa p.S358* ZNF700_ENST00000254321.5_Nonsense_Mutation_p.S376*|ZNF763_ENST00000590798.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000591944.1_Intron Q9H0M5 ZN700_HUMAN zinc finger protein 700 376 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ZNF700/MAST1_ENST00000251472(2) breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1) 33 TCTGCCAAGTCATTTCAAACA 0.343000 107 320 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179614364 179614364 + Nonsense_Mutation SNP C C A TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr2:179614364C>A ENST00000360870.5 - 46 12985 c.12763G>T c.(12763-12765)Gaa>Taa p.E4255* TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 406 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGACTATTTTCTCTATAAGTG 0.353000 57 456 1.25972e-11 1.34417e-11 1 1 0 KIF23 9493 broad.mit.edu 37 15 69715496 69715496 + Splice_Site SNP A A T TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr15:69715496A>T ENST00000260363.4 + 7 680 c.e7-1 KIF23_ENST00000352331.4_Splice_Site|KIF23_ENST00000537891.1_5'UTR|KIF23_ENST00000559279.1_Splice_Site|KIF23_ENST00000395392.2_Splice_Site|KIF23_ENST00000558585.1_Splice_Site NM_138555.2 NP_612565.1 Q02241 KIF23_HUMAN kinesin family member 23 blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle ATP binding|microtubule motor activity|protein binding central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1) 21 TTCTTTTTTTAGACGACAAGT 0.383000 7 375 0 0 1 0 0 CHL1 10752 broad.mit.edu 37 3 433473 433473 + Nonsense_Mutation SNP T T A TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr3:433473T>A ENST00000256509.2 + 23 3549 c.2907T>A c.(2905-2907)taT>taA p.Y969* CHL1_ENST00000397491.2_Nonsense_Mutation_p.Y953* NM_001253387.1|NM_001253388.1|NM_006614.3 NP_001240316.1|NP_001240317.1|NP_006605.2 O00533 CHL1_HUMAN cell adhesion molecule L1-like 953 Fibronectin type-III 4. axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix p.Y969Y(1) NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1) 93 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) TTTTGCAATATCAGATAAGTA 0.318000 30 350 0 0 1 0 0 SPATA20 64847 broad.mit.edu 37 17 48631710 48631710 + Missense_Mutation SNP G G A TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr17:48631710G>A ENST00000006658.6 + 15 2176 c.2056G>A c.(2056-2058)Gtg>Atg p.V686M SPATA20_ENST00000511937.1_3'UTR|SPATA20_ENST00000393244.3_Missense_Mutation_p.V626M|SPATA20_ENST00000356488.4_Missense_Mutation_p.V670M NM_022827.3 NP_073738.2 Q8TB22 SPT20_HUMAN spermatogenesis associated 20 670 cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis extracellular region mannose-6-phosphate isomerase activity|protein binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;9.38e-09) GGACAAGTGTGTGTGCCTATT 0.632000 74 508 0 0 1 0 0 OR6F1 343169 broad.mit.edu 37 1 247875276 247875276 + Missense_Mutation SNP C C T rs149671274 byFrequency TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr1:247875276C>T ENST00000302084.2 - 1 829 c.782G>A c.(781-783)cGc>cAc p.R261H RP11-634B7.4_ENST00000449298.1_RNA NM_001005286.1 NP_001005286.1 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, member 1 261 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2) 47 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) GATAGAGGTGCGGACGTGAAG 0.517000 99 515 0 0 1 0 0 CYP4F11 57834 broad.mit.edu 37 19 16024596 16024596 + Silent SNP G G A TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr19:16024596G>A ENST00000402119.3 - 12 1947 c.1521C>T c.(1519-1521)cgC>cgT p.R507R CYP4F11_ENST00000248041.7_Silent_p.R507R|CYP4F11_ENST00000326742.7_3'UTR NM_021187.3 NP_067010.3 Q9HBI6 CP4FB_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 11 507 inflammatory response|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3) 25 CACCCTCTGCGCGCAATATCA 0.612000 23 211 0 0 1 0 0 BIN2 51411 broad.mit.edu 37 12 51685907 51685907 + Missense_Mutation SNP G G T TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr12:51685907G>T ENST00000267012.4 - 10 1044 c.983C>A c.(982-984)gCa>gAa p.A328E BIN2_ENST00000452142.2_Missense_Mutation_p.A296E|BIN2_ENST00000604560.1_Missense_Mutation_p.A301E|BIN2_ENST00000544402.1_Missense_Mutation_p.A302E NM_016293.2 NP_057377.2 Q9UBW5 BIN2_HUMAN bridging integrator 2 328 cytoplasm protein binding NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3) 31 AGAGGAGCTTGCTTCAGATCC 0.547000 34 441 9.65021e-13 1.0355e-12 1 1 0 OTX1 5013 broad.mit.edu 37 2 63283271 63283271 + Silent SNP C C T TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr2:63283271C>T ENST00000282549.2 + 5 1161 c.885C>T c.(883-885)caC>caT p.H295H OTX1_ENST00000366671.3_Silent_p.H295H NM_014562.3 NP_055377.1 P32242 OTX1_HUMAN orthodenticle homeobox 1 295 His-rich. nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Lung NSC(7;0.121)|all_lung(7;0.211) accaccaccaccatcaccacc 0.637000 6 441 0 0 1 0 0 CRB2 286204 broad.mit.edu 37 9 126125189 126125189 + Missense_Mutation SNP G G A TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr9:126125189G>A ENST00000373631.3 + 2 141 c.140G>A c.(139-141)tGc>tAc p.C47Y CRB2_ENST00000359999.3_Missense_Mutation_p.C47Y NM_173689.5 NP_775960.4 Q5IJ48 CRUM2_HUMAN crumbs homolog 2 (Drosophila) 47 extracellular region|integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3) 23 TCAGACCCGTGCGCTCCAGGG 0.647000 88 673 0 0 1 0 0 GRM6 2916 broad.mit.edu 37 5 178416069 178416069 + Silent SNP C C A TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr5:178416069C>A ENST00000231188.5 - 6 1399 c.1221G>T c.(1219-1221)gcG>gcT p.A407A RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000517717.1_Silent_p.A407A NM_000843.3 NP_000834.2 O15303 GRM6_HUMAN glutamate receptor, metabotropic 6 407 detection of visible light|visual perception integral to plasma membrane p.A407A(1) NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 55 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) TGGCGTACACCGCATCAATCA 0.647000 4 201 0.00909568 0.00919193 1 1 0 RP11-114H24.7 0 broad.mit.edu 37 15 78211517 78211517 + RNA SNP C C G TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr15:78211517C>G ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA TTGCTCAGGACACTCAAGGCC 0.557000 8 917 0 0 1 0 0 NCAM2 4685 broad.mit.edu 37 21 22658659 22658659 + Silent SNP C C T TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr21:22658659C>T ENST00000400546.1 + 4 657 c.408C>T c.(406-408)tgC>tgT p.C136C NCAM2_ENST00000535285.1_Silent_p.C161C|NCAM2_ENST00000284894.7_Intron|NCAM2_ENST00000486367.1_3'UTR NM_004540.3 NP_004531.2 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 136 Ig-like C2-type 2. neuron cell-cell adhesion integral to membrane|plasma membrane breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 108 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) AAGTGGTTTGCCGAGTTAGCA 0.398000 4 221 0 0 1 0 0 IGLC2 0 broad.mit.edu 37 22 23243367 23243367 + RNA SNP T T C rs8033 by1000genomes TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr22:23243367T>C ENST00000390323.2 + 0 212 CCAGCAGCTATCTGAGCCTGA 0.587000 5 196 0 0 1 0 0 ZEB2 9839 broad.mit.edu 37 2 145156919 145156919 + Missense_Mutation SNP G G A TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr2:145156919G>A ENST00000558170.2 - 8 3019 c.1835C>T c.(1834-1836)gCg>gTg p.A612V ZEB2_ENST00000303660.4_Missense_Mutation_p.A612V|ZEB2_ENST00000539609.3_Missense_Mutation_p.A588V|ZEB2_ENST00000409487.3_Missense_Mutation_p.A612V NM_014795.3 NP_055610.1 O60315 ZEB2_HUMAN zinc finger E-box binding homeobox 2 612 cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 107 BRCA - Breast invasive adenocarcinoma(221;0.112) CTGCAGGACCGCCTTGATCTC 0.433000 48 483 0 0 1 0 0 GCN1L1 10985 broad.mit.edu 37 12 120589168 120589168 + Missense_Mutation SNP G G A TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr12:120589168G>A ENST00000300648.6 - 34 4102 c.4090C>T c.(4090-4092)Cca>Tca p.P1364S NM_006836.1 NP_006827.1 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 1364 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) ACAAGGGGTGGCAAGCAGCTG 0.612000 4 225 0 0 1 0 0 COL11A2 1302 broad.mit.edu 37 6 33143414 33143414 + Missense_Mutation SNP C C A TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr6:33143414C>A ENST00000341947.2 - 30 2540 c.2313G>T c.(2311-2313)gaG>gaT p.E771D COL11A2_ENST00000374708.4_Missense_Mutation_p.E685D|COL11A2_ENST00000395197.1_Missense_Mutation_p.E711D|COL11A2_ENST00000374714.1_Missense_Mutation_p.E745D|COL11A2_ENST00000361917.1_Missense_Mutation_p.E664D|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374713.1_Missense_Mutation_p.E724D|COL11A2_ENST00000357486.1_Missense_Mutation_p.E750D|COL11A2_ENST00000374712.1_Missense_Mutation_p.E690D NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 771 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 CCTTTGGCCCCTCAGGACCAT 0.657000 5 488 0.217242 0.217242 1 1 0 DENND4B 9909 broad.mit.edu 37 1 153907297 153907297 + Silent SNP C C T rs75341579 by1000genomes TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr1:153907297C>T ENST00000361217.4 - 18 3130 c.2712G>A c.(2710-2712)caG>caA p.Q904Q NM_014856.2 NP_055671.2 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B 904 Gln-rich. NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 36 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) gctgctgctgctgctgctgtt 0.632000 12 364 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr12:25398284C>T ENST00000311936.3 - 2 226 c.35G>A c.(34-36)gGt>gAt p.G12D KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 52 116 0 0 1 0 0 APBA2 321 broad.mit.edu 37 15 29400578 29400578 + Missense_Mutation SNP G G A TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr15:29400578G>A ENST00000558402.1 + 14 2622 c.2023G>A c.(2023-2025)Gtg>Atg p.V675M APBA2_ENST00000561069.1_Missense_Mutation_p.V675M|APBA2_ENST00000558330.1_Missense_Mutation_p.V663M|APBA2_ENST00000411764.1_Missense_Mutation_p.V663M|APBA2_ENST00000558259.1_Missense_Mutation_p.V675M Q99767 APBA2_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 2 675 PDZ 2. nervous system development|protein transport protein binding p.V675M(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1) 59 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) GGGCTTCAGCGTGCAGAATGG 0.607000 113 448 0 0 1 0 0 PTPRG 5793 broad.mit.edu 37 3 61975386 61975386 + Missense_Mutation SNP C C T TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr3:61975386C>T ENST00000474889.1 + 3 655 c.278C>T c.(277-279)gCg>gTg p.A93V PTPRG_ENST00000295874.10_Missense_Mutation_p.A93V NM_002841.3 NP_002832.3 P23470 PTPRG_HUMAN protein tyrosine phosphatase, receptor type, G 93 Alpha-carbonic anhydrase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane identical protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065) GACCAGTATGCGCGTGTTGGG 0.488000 6 387 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q Q96L91 EP400_HUMAN E1A binding protein p400 2761 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2724Q(16)|p.Q2725Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcagcaacaacagc 0.562000 8 269 0 0 1 0 0 FBXO16 157574 broad.mit.edu 37 8 28314447 28314447 + Splice_Site SNP C C T TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr8:28314447C>T ENST00000380254.2 - 5 491 c.342_splice c.e5-1 p.V115_splice FBXO16_ENST00000346498.2_Splice_Site_p.V103_splice|FBXO16_ENST00000517436.1_5'UTR|FBXO16_ENST00000518734.1_Splice_Site_p.V103_splice NM_001258211.1|NM_172366.3 NP_001245140.1|NP_758954.1 Q8IX29 FBX16_HUMAN F-box protein 16 115 F-box. large_intestine(2)|ovary(1) 3 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249) TGCCAGCACACCTGGAAAAAC 0.428000 22 259 0 0 1 0 0 SLC12A7 10723 broad.mit.edu 37 5 1065587 1065587 + Missense_Mutation SNP G G A TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr5:1065587G>A ENST00000264930.5 - 18 2291 c.2248C>T c.(2248-2250)Cgg>Tgg p.R750W NM_006598.2 NP_006589.2 Q9Y666 S12A7_HUMAN solute carrier family 12 (potassium/chloride transporter), member 7 750 potassium ion transport|sodium ion transport integral to plasma membrane potassium:chloride symporter activity breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 32 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09) Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165) Potassium Chloride(DB00761) ATTAGGGACCGTATGTTCTGC 0.642000 6 302 0 0 1 0 0 ZRANB3 84083 broad.mit.edu 37 2 136071117 136071117 + Missense_Mutation SNP G G A TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr2:136071117G>A ENST00000401392.1 - 8 1120 c.908C>T c.(907-909)gCc>gTc p.A303V ZRANB3_ENST00000536680.1_Missense_Mutation_p.A303V|ZRANB3_ENST00000264159.6_Missense_Mutation_p.A303V Q5FWF4 ZRAB3_HUMAN zinc finger, RAN-binding domain containing 3 303 intracellular ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.135) TGTCTCCATGGCACCTGAATT 0.373000 84 706 0 0 1 0 0 POM121L9P 0 broad.mit.edu 37 22 24659764 24659764 + RNA SNP C C G rs143464834 by1000genomes TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr22:24659764C>G ENST00000414583.2 + 0 3289 NR_003714.1 AGTGTCCTAACAGCCCTGCTT 0.627000 3 60 0 0 1 0 0 HHIPL2 79802 broad.mit.edu 37 1 222716971 222716971 + Silent SNP C C T TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr1:222716971C>T ENST00000343410.6 - 2 940 c.882G>A c.(880-882)tcG>tcA p.S294S NM_024746.3 NP_079022.2 Q6UWX4 HIPL2_HUMAN HHIP-like 2 294 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 GBM - Glioblastoma multiforme(131;0.0185) TGTCCAGGCACGAATAATAAA 0.473000 393 1597 0 0 1 0 0 HIST1H4B 8366 broad.mit.edu 37 6 26027283 26027283 + Silent SNP C C T TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr6:26027283C>T ENST00000377364.3 - 1 197 c.198G>A c.(196-198)gtG>gtA p.V66V NM_003544.2 NP_003535.1 P62805 H4_HUMAN histone cluster 1, H4b 66 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1) 13 CGTCCCGGATCACGTTCTCCA 0.572000 OREG0017238 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 44 271 0 0 1 0 0 HOXC11 3227 broad.mit.edu 37 12 54367353 54367353 + Missense_Mutation SNP G G A TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr12:54367353G>A ENST00000546378.1 + 1 444 c.328G>A c.(328-330)Gtc>Atc p.V110I HOTAIR_ENST00000455246.1_RNA|HOXC11_ENST00000243082.4_Missense_Mutation_p.V110I|HOTAIR_ENST00000424518.1_RNA O43248 HXC11_HUMAN homeobox C11 110 endoderm development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|ovary(1) 2 TCCTTCCACCGTCACCGAGAT 0.642000 T NUP98 AML 327 1247 0 0 1 0 0 CADM1 23705 broad.mit.edu 37 11 115080343 115080343 + Silent SNP G G T TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr11:115080343G>T ENST00000537058.1 - 8 1049 c.1029C>A c.(1027-1029)acC>acA p.T343T CADM1_ENST00000536727.1_Intron|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000542447.2_Intron|CADM1_ENST00000331581.6_Silent_p.T343T|CADM1_ENST00000452722.2_Silent_p.T343T Q9BY67 CADM1_HUMAN cell adhesion molecule 1 343 PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657). adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity basolateral plasma membrane|cell-cell junction|integral to membrane PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding p.T343T(5) cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1) 32 all_hematologic(175;0.0628) all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237) BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303) tggtggtggtggttgttgtgg 0.433000 8 380 0.000157383 0.000162488 1 1 0 DST 667 broad.mit.edu 37 6 56357816 56357816 + Silent SNP A A T TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr6:56357816A>T ENST00000370754.5 - 84 20372 c.20373T>A c.(20371-20373)ctT>ctA p.L6791L DST_ENST00000446842.2_Silent_p.L6287L|DST_ENST00000370788.2_Silent_p.L4416L|DST_ENST00000361203.3_Silent_p.L6502L|DST_ENST00000370769.4_Silent_p.L6613L|DST_ENST00000244364.6_Silent_p.L4199L|DST_ENST00000421834.2_Silent_p.L4525L|DST_ENST00000312431.6_3'UTR Q03001 DYST_HUMAN dystonin 6611 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) CAGCCTGAGTAAGCCAGTTGA 0.428000 17 108 0 0 1 0 0 NPAP1 23742 broad.mit.edu 37 15 24924064 24924064 + Missense_Mutation SNP G G A TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr15:24924064G>A ENST00000329468.2 + 1 3524 c.3050G>A c.(3049-3051)gGt>gAt p.G1017D NM_018958.2 NP_061831.2 nuclear pore associated protein 1 CCTATGGATGGTGGGAGCATT 0.537000 31 292 0 0 1 0 0 FAM104B 90736 broad.mit.edu 37 X 55172537 55172537 + Nonsense_Mutation SNP G G A rs1047054 by1000genomes TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chrX:55172537G>A ENST00000425133.2 - 3 369 c.331C>T c.(331-333)Cga>Tga p.R111* FAM104B_ENST00000332132.4_Intron|FAM104B_ENST00000472571.2_3'UTR|FAM104B_ENST00000489298.1_Nonsense_Mutation_p.R109*|FAM104B_ENST00000358460.4_Intron|FAM104B_ENST00000477847.2_Nonsense_Mutation_p.R107* 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 4 151 0 0 1 0 0 CCDC88B 283234 broad.mit.edu 37 11 64124622 64124622 + Missense_Mutation SNP G G A rs61886888 by1000genomes TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr11:64124622G>A ENST00000359902.2 + 14 1951 c.1801G>A c.(1801-1803)Gga>Aga p.G601R CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000356786.5_3'UTR|CCDC88B_ENST00000301897.4_3'UTR A6NC98 CC88B_HUMAN coiled-coil domain containing 88B 1424 microtubule cytoskeleton organization cytoplasm microtubule binding endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GAGTGTCAGCGGAGGCCCCAG 0.667000 4 235 0 0 1 0 0 MTMR12 54545 broad.mit.edu 37 5 32268842 32268842 + Missense_Mutation SNP A A T TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr5:32268842A>T ENST00000382142.3 - 6 718 c.548T>A c.(547-549)cTg>cAg p.L183Q MTMR12_ENST00000280285.5_Missense_Mutation_p.L183Q|MTMR12_ENST00000264934.5_Missense_Mutation_p.L183Q NM_001040446.1 NP_001035536.1 Q9C0I1 MTMRC_HUMAN myotubularin related protein 12 183 cytoplasm phosphatase activity breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 ATAGGAAAACAGAAATAATCG 0.388000 87 373 0 0 1 0 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39262039 39262039 + Missense_Mutation SNP C C G TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr17:39262039C>G ENST00000391415.1 + 1 456 c.399C>G c.(397-399)agC>agG p.S133R NM_001146041.1 NP_001139513.1 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 133 29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP]. keratin filament p.S133R(1)|p.S121R(1) central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3) 14 gtgtgtccagctgctgcaagc 0.652000 7 169 0 0 1 0 0 IL27 246778 broad.mit.edu 37 16 28515269 28515269 + Missense_Mutation SNP C C T TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr16:28515269C>T ENST00000356897.1 - 2 156 c.134G>A c.(133-135)aGg>aAg p.R45K NM_145659.3 NP_663634.2 Q8NEV9 IL27A_HUMAN interleukin 27 45 inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation extracellular space cytokine activity|interleukin-27 receptor binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1) 10 TGTGAACTCCCTCCGCAGCTC 0.642000 85 298 0 0 1 0 0 MKL1 57591 broad.mit.edu 37 22 40813466 40813466 + Missense_Mutation SNP G G A TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr22:40813466G>A ENST00000396617.3 - 13 2686 c.2096C>T c.(2095-2097)gCc>gTc p.A699V MKL1_ENST00000407029.1_Missense_Mutation_p.A699V|MKL1_ENST00000355630.3_Missense_Mutation_p.A699V|MKL1_ENST00000402042.1_Missense_Mutation_p.A649V Q969V6 MKL1_HUMAN megakaryoblastic leukemia (translocation) 1 699 Pro-rich. positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent cytoplasm|nucleus actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 30 GGCAGAGGGGGCAGGCGCTGG 0.662000 T RBM15 acute megakaryocytic leukemia 3 45 0 0 1 0 0 CCT6P3 0 broad.mit.edu 37 7 64498737 64498737 + RNA SNP C C A TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr7:64498737C>A ENST00000426828.1 + 0 0 NR_033416.1 gaggcggtggcggcggcggca 0.786000 8 58 5.01169e-05 5.20236e-05 1 1 0 ZNF799 90576 broad.mit.edu 37 19 12502436 12502436 + Missense_Mutation SNP G G T TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr19:12502436G>T ENST00000419318.1 - 4 1429 c.680C>A c.(679-681)tCt>tAt p.S227Y CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Missense_Mutation_p.S259Y Q96GE5 ZN799_HUMAN zinc finger protein 799 259 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2) 19 GAAGGCTTTAGAACACTGTTT 0.378000 70 748 7.62465e-47 8.32176e-47 1 1 0 PBDC1 51260 broad.mit.edu 37 X 75397752 75397752 + Missense_Mutation SNP G G A TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chrX:75397752G>A ENST00000373357.3 + 5 698 c.599G>A c.(598-600)aGg>aAg p.R200K PBDC1_ENST00000373358.3_3'UTR polysaccharide biosynthesis domain containing 1 AAGGTATACAGGGAACAGCAC 0.388000 27 131 0 0 1 0 0 HSPA8 3312 broad.mit.edu 37 11 122931494 122931494 + Missense_Mutation SNP A A G TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr11:122931494A>G ENST00000534624.1 - 3 494 c.218T>C c.(217-219)cTg>cCg p.L73P HSPA8_ENST00000227378.3_Missense_Mutation_p.L73P|HSPA8_ENST00000526110.1_Missense_Mutation_p.L73P|HSPA8_ENST00000533540.1_Missense_Mutation_p.L73P|HSPA8_ENST00000532636.1_Missense_Mutation_p.L73P|HSPA8_ENST00000453788.2_Missense_Mutation_p.L73P NM_006597.4 NP_006588.1 P11142 HSP7C_HUMAN heat shock 70kDa protein 8 73 cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex ATP binding|ATPase activity, coupled|protein binding breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1) 36 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) GCGTCCAATCAGACGTTTGGC 0.403000 85 315 0 0 1 0 0 PTEN 5728 broad.mit.edu 37 10 89692944 89692944 + Missense_Mutation SNP G G A TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr10:89692944G>A ENST00000371953.3 + 5 1785 c.428G>A c.(427-429)gGc>gAc p.G143D NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 143 Phosphatase tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.?(5)|p.R55fs*1(5)|p.G143fs*4(2)|p.Y27fs*1(2)|p.A121_F145del(1)|p.F56fs*2(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) TTACATCGGGGCAAATTTTTA 0.388000 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 7 666 0 0 1 0 0 SDHAP3 0 broad.mit.edu 37 5 1593386 1593386 + RNA SNP A A C TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr5:1593386A>C ENST00000436493.2 - 0 239 CTGGCCATTCACGTGCCTCAG 0.597000 5 344 0 0 1 0 0 BEX4 56271 broad.mit.edu 37 X 102471391 102471391 + Missense_Mutation SNP C C T rs139178618 byFrequency TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chrX:102471391C>T ENST00000372695.5 + 3 545 c.310C>T c.(310-312)Cgc>Tgc p.R104C BEX4_ENST00000372691.3_Missense_Mutation_p.R104C NM_001080425.3 NP_001073894.1 Q9NWD9 BEX4_HUMAN brain expressed, X-linked 4 104 cytoplasm|nucleus endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2) 9 GCACTATATGCGCTTCCAAAC 0.418000 5 408 0 0 1 0 0 GAS2L2 246176 broad.mit.edu 37 17 34077157 34077157 + Missense_Mutation SNP T T G TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr17:34077157T>G ENST00000254466.6 - 2 593 c.566A>C c.(565-567)gAc>gCc p.D189A GAS2L2_ENST00000587565.1_Intron NM_139285.3 NP_644814.1 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 189 cell cycle arrest cytoplasm|cytoskeleton central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CGGCGAGGGGTCGGGCGGGGG 0.741000 31 375 0 0 1 0 0 PLEKHG5 57449 broad.mit.edu 37 1 6536011 6536013 + In_Frame_Del DEL CTC CTC - TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr1:6536011_6536013delCTC ENST00000377748.1 - 4 855_857 c.358_360delGAG c.(358-360)del p.E120del PLEKHG5_ENST00000400913.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000544978.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000535355.1_In_Frame_Del_p.E112del|PLEKHG5_ENST00000537245.1_In_Frame_Del_p.E122del|PLEKHG5_ENST00000400915.3_In_Frame_Del_p.E99del|PLEKHG5_ENST00000340850.5_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377732.1_In_Frame_Del_p.E80del|PLEKHG5_ENST00000377725.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377737.2_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377728.3_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377740.3_In_Frame_Del_p.E120del NM_198681.3 NP_941374.2 O94827 PKHG5_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 5 99 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm Rho guanyl-nucleotide exchange factor activity|signal transducer activity liver(1) 1 Ovarian(185;0.02)|all_lung(157;0.154) all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448) Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419) CCACAGAGCTCTCCTCCTCCTCC 0.631 OREG0013041 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 642 --- --- --- --- EXTL1 2134 broad.mit.edu 37 1 26349533 26349535 + In_Frame_Del DEL CCT CCT - TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 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 7 369 --- --- --- --- EIF2B3 8891 broad.mit.edu 37 1 45407182 45407182 + Frame_Shift_Del DEL T T - TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr1:45407182delT ENST00000360403.2 - 4 576 c.450delA c.(448-450)aafs p.K150fs EIF2B3_ENST00000480675.1_5'UTR|EIF2B3_ENST00000372183.3_Frame_Shift_Del_p.K150fs NM_001261418.1|NM_020365.4 NP_001248347.1|NP_065098.1 Q9NR50 EI2BG_HUMAN eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa 150 negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus cytosol|eukaryotic translation initiation factor 2B complex nucleotidyltransferase activity|protein binding|translation initiation factor activity endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1) 17 Acute lymphoblastic leukemia(166;0.155) CCTTACCTGCTTTTTTTTTCC 0.358 11 654 --- --- --- --- AC019118.2 0 broad.mit.edu 37 2 2910722 2910723 + RNA INS - - T TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr2:2910722_2910723insT ENST00000457478.1 - 0 594 tccaccccctctccccagccca 0.708 20 27 --- --- --- --- AC073479.1 0 broad.mit.edu 37 2 6090578 6090587 + RNA DEL ACACACACAG ACACACACAG - rs71400860 by1000genomes TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr2:6090578_6090587delACACACACAG ENST00000431188.1 + 0 134 acacacacacacacacacagacacacacac 0.338 2 4 --- --- --- --- HEATR5B 54497 broad.mit.edu 37 2 37259800 37259801 + Frame_Shift_Ins INS - - T TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr2:37259800_37259801insT ENST00000233099.5 - 22 3427_3428 c.3332_3333insA c.(3331-3333)aacfs p.N1111fs HEATR5B_ENST00000354531.2_Frame_Shift_Ins_p.N1111fs NM_019024.1 NP_061897.1 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 1111 binding p.N1111K(1) breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 77 all_hematologic(82;0.21) TGTCCCCTGTATTTTTTGCCAG 0.386 62 515 --- --- --- --- SOS1 6654 broad.mit.edu 37 2 39213243 39213243 + Frame_Shift_Del DEL T T - TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr2:39213243delT ENST00000426016.1 - 24 3810 c.3724delA c.(3724-3726)gtfs p.S1242fs SOS1_ENST00000395038.2_Frame_Shift_Del_p.S1227fs|SOS1_ENST00000402219.2_Frame_Shift_Del_p.S1242fs Q07889 SOS1_HUMAN son of sevenless homolog 1 (Drosophila) 1242 apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 75 all_hematologic(82;0.21) CCATGGTCACTTTTTTTGCCC 0.517 Noonan syndrome 8 608 --- --- --- --- UGP2 7360 broad.mit.edu 37 2 64084969 64084969 + Frame_Shift_Del DEL A A - TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr2:64084969delA ENST00000337130.5 + 3 630 c.154delA c.(154-156)aafs p.K53fs UGP2_ENST00000445915.2_Frame_Shift_Del_p.K62fs|UGP2_ENST00000394417.2_Frame_Shift_Del_p.K42fs|UGP2_ENST00000487469.1_Intron|UGP2_ENST00000467648.2_Frame_Shift_Del_p.K42fs NM_006759.3 NP_006750.3 Q16851 UGPA_HUMAN UDP-glucose pyrophosphorylase 2 53 glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process cytosol metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1) 18 ACAGCACACCAAAAAAGACCT 0.358 7 1782 --- --- --- --- WBP1 23559 broad.mit.edu 37 2 74687542 74687543 + Frame_Shift_Ins INS - - C TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr2:74687542_74687543insC ENST00000393972.3 + 5 849_850 c.646_647insC c.(646-648)cccfs p.P216fs WBP1_ENST00000494741.1_3'UTR|WBP1_ENST00000409737.1_Frame_Shift_Ins_p.P179fs|WBP1_ENST00000233615.2_Frame_Shift_Ins_p.P182fs Q96G27 WBP1_HUMAN WW domain binding protein 1 182 WW domain binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1) 8 CCACCAGAGTGCCCCCCCTCAT 0.604 7 1027 --- --- --- --- AC027612.3 0 broad.mit.edu 37 2 91887905 91887906 + RNA INS - - T TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr2:91887905_91887906insT ENST00000436174.1 - 0 540 GCTATTTTCCATTTTTTTTTTT 0.292 7 297 --- --- --- --- AC097374.2 0 broad.mit.edu 37 2 95558033 95558034 + RNA INS - - A rs35245431 TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr2:95558033_95558034insA ENST00000568768.1 - 0 476 TTCTAAGAGTCAAAAAAACTGT 0.317 11 9 --- --- --- --- AC097374.2 0 broad.mit.edu 37 2 95558422 95558423 + RNA INS - - T rs5832787 TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr2:95558422_95558423insT ENST00000568768.1 - 0 476 ATCTGGACCCCGTTTGCAATCT 0.475 7 117 --- --- --- --- AC010884.1 0 broad.mit.edu 37 2 105596111 105596111 + RNA DEL A A - rs66724619 TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr2:105596111delA ENST00000456519.1 - 0 43 agaaagaaagaaaagaaagaa 0.358 4 8 --- --- --- --- AC024704.2 0 broad.mit.edu 37 2 114588351 114588352 + RNA DEL AC AC - rs71297190 TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr2:114588351_114588352delAC ENST00000435407.1 - 0 268 CGACAACAAAacacacacacac 0.500 3 2 --- --- --- --- FKBP7 51661 broad.mit.edu 37 2 179343164 179343164 + Frame_Shift_Del DEL A A - TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr2:179343164delA ENST00000424785.2 - 1 121 c.63delT c.(61-63)ttfs p.F21fs FKBP7_ENST00000464248.1_5'UTR|FKBP7_ENST00000434643.2_Frame_Shift_Del_p.F21fs NM_001135212.1|NM_181342.2 NP_001128684.1|NP_851939.1 Q9Y680 FKBP7_HUMAN FK506 binding protein 7 21 protein folding endoplasmic reticulum lumen|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 8 OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564) TCTGAGCAGTAAAAAGGCCCC 0.448 9 1413 --- --- --- --- AC131097.3 0 broad.mit.edu 37 2 242823746 242823749 + RNA DEL GTGT GTGT - TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr2:242823746_242823749delGTGT ENST00000430555.1 + 0 116 AC131097.3_ENST00000457686.1_RNA|AC131097.3_ENST00000415434.1_RNA GTGGCCCAGCgtgtgtgtgtgtgt 0.691 4 4 --- --- --- --- RP11-572M11.4 0 broad.mit.edu 37 3 112892065 112892066 + RNA INS - - GGAA rs71134882 TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr3:112892065_112892066insGGAA ENST00000496389.1 + 0 485 RP11-572M11.4_ENST00000463017.1_RNA AGGTAAGTaggggaaggaagga 0.475 4 2 --- --- --- --- AC226119.5 0 broad.mit.edu 37 4 3954951 3954952 + RNA INS - - A TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr4:3954951_3954952insA ENST00000281228.8 - 0 98 FAM86EP_ENST00000313946.8_RNA ACAAGAACATTAAACACGCAAT 0.495 9 238 --- --- --- --- CLOCK 9575 broad.mit.edu 37 4 56304530 56304532 + In_Frame_Del DEL CTG CTG - TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr4:56304530_56304532delCTG ENST00000309964.4 - 21 2528_2530 c.2278_2280delCAG c.(2278-2280)del p.Q760del CLOCK_ENST00000381322.1_In_Frame_Del_p.Q760del|CLOCK_ENST00000513440.1_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 8 279 --- --- --- --- MMRN1 22915 broad.mit.edu 37 4 90844391 90844393 + In_Frame_Del DEL AGC AGC - TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr4:90844391_90844393delAGC ENST00000394980.1 + 5 1242_1244 c.923_925delAGC c.(922-927)gag>g p.EQ308del MMRN1_ENST00000508372.1_In_Frame_Del_p.EQ50del|MMRN1_ENST00000394981.1_In_Frame_Del_p.EQ274del|MMRN1_ENST00000264790.2_In_Frame_Del_p.EQ308del Q13201 MMRN1_HUMAN multimerin 1 308 cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2) 72 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) GGAGTAGCTGAGCAGCAGCAGCA 0.448 11 1518 --- --- --- --- CTD-2374C24.1 0 broad.mit.edu 37 5 104533565 104533566 + RNA INS - - TG rs10635719 TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr5:104533565_104533566insTG ENST00000522464.1 - 0 68 RP11-6N13.1_ENST00000503650.1_lincRNA TTACAGTAGTTtgtgtgtgtgt 0.322 3 4 --- --- --- --- RP11-536N17.1 0 broad.mit.edu 37 5 172243975 172243975 + RNA DEL A A - rs11354549 TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr5:172243975delA ENST00000518260.1 + 0 105 TCAGGGaaacaaaaaaaaaaa 0.408 3 3 --- --- --- --- RP1-223B1.1 0 broad.mit.edu 37 6 3615264 3615267 + RNA DEL GAAG GAAG - TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr6:3615264_3615267delGAAG ENST00000443445.1 - 0 500 aggaaggaaagaaggaaggaagga 0.495 4 8 --- --- --- --- BTN2A3P 0 broad.mit.edu 37 6 26422627 26422628 + RNA INS - - A rs3734537 by1000genomes TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr6:26422627_26422628insA ENST00000466808.2 + 0 79 gcaaattttccaaaaaaattaa 0.292 5 10 --- --- --- --- NOX3 50508 broad.mit.edu 37 6 155743925 155743926 + Frame_Shift_Del DEL CA CA - TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr6:155743925_155743926delCA ENST00000159060.2 - 10 1312_1313 c.1210_1211delTG c.(1210-1212)cfs p.C404fs NM_015718.2 NP_056533.1 Q9HBY0 NOX3_HUMAN NADPH oxidase 3 404 electron carrier activity|flavin adenine dinucleotide binding|iron ion binding cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1) 45 Breast(66;0.0183) OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815) CGCGGCAACGCACACACACACT 0.530 7 865 --- --- --- --- IGF2R 3482 broad.mit.edu 37 6 160485488 160485488 + Frame_Shift_Del DEL G G - TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr6:160485488delG ENST00000356956.1 + 28 4090 c.3942delG c.(3940-3942)acfs p.T1314fs NM_000876.2 NP_000867.2 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor 1314 receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) TGAACTTCACGGGGGGGGACA 0.502 10 1134 --- --- --- --- AC073333.8 0 broad.mit.edu 37 7 16750422 16750422 + RNA DEL T T - rs67313178 TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr7:16750422delT ENST00000418907.1 - 0 72 ATGAAACAAATTTTTTTTTTT 0.338 4 8 --- --- --- --- FOXP2 93986 broad.mit.edu 37 7 114269971 114269973 + In_Frame_Del DEL CAA CAA - rs149757187 TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr7:114269971_114269973delCAA ENST00000393500.3 + 11 1103_1105 c.283_285delCAA c.(283-285)del p.Q116del FOXP2_ENST00000350908.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000393489.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000378237.3_In_Frame_Del_p.Q191del|FOXP2_ENST00000393491.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000393494.2_In_Frame_Del_p.Q191del|FOXP2_ENST00000390668.3_In_Frame_Del_p.Q215del|FOXP2_ENST00000393498.2_In_Frame_Del_p.Q171del|FOXP2_ENST00000403559.4_In_Frame_Del_p.Q208del|FOXP2_ENST00000408937.3_In_Frame_Del_p.Q216del|FOXP2_ENST00000360232.4_In_Frame_Del_p.Q191del|AC020606.1_ENST00000580664.1_RNA O15409 FOXP2_HUMAN forkhead box P2 191 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding p.Q195Q(1) breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 acagcagcagcaacaacaacaac 0.502 10 268 --- --- --- --- WASL 8976 broad.mit.edu 37 7 123329093 123329094 + Splice_Site DEL TA TA - TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr7:123329093_123329094delTA ENST00000223023.4 - 10 1789 c.e10+1 NM_003941.2 NP_003932.3 O00401 WASL_HUMAN Wiskott-Aldrich syndrome-like 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 tctctctctctACCTGAAGAAT 0.431 8 1546 --- --- --- --- SGCZ 137868 broad.mit.edu 37 8 13948053 13948056 + Frame_Shift_Del DEL CTGT CTGT - TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr8:13948053_13948056delCTGT ENST00000382080.1 - 8 1550_1553 c.835_838delACAG c.(835-840)tgfs p.TV279fs SGCZ_ENST00000421524.2_Frame_Shift_Del_p.TV232fs NM_139167.2 NP_631906.2 Q96LD1 SGCZ_HUMAN sarcoglycan, zeta 266 cytoskeleton organization cytoplasm|cytoskeleton|integral to membrane|sarcolemma NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 47 all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026) AGTTCATACACTGTCTGTCGAGAA 0.471 63 641 --- --- --- --- RP11-459E5.1 0 broad.mit.edu 37 8 22557108 22557109 + RNA INS - - G rs148552174 by1000genomes TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr8:22557108_22557109insG ENST00000523627.1 + 0 164 aggaaaagaaagaaagaaagaa 0.401 11 6 --- --- --- --- TEX15 56154 broad.mit.edu 37 8 30703516 30703516 + Frame_Shift_Del DEL T T - TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr8:30703516delT ENST00000256246.2 - 1 3092 c.3018delA c.(3016-3018)aafs p.K1006fs NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 1006 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) TTCTATGAGCTTTTTTTAAGT 0.323 8 1398 --- --- --- --- UBR5 51366 broad.mit.edu 37 8 103289348 103289349 + Frame_Shift_Ins INS - - T TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr8:103289348_103289349insT ENST00000520539.1 - 45 6966_6967 c.6360_6361insA c.(6358-6363)aaaaggfs p.R2121fs UBR5_ENST00000220959.4_Frame_Shift_Ins_p.R2121fs|UBR5_ENST00000521922.1_Frame_Shift_Ins_p.R2115fs NM_015902.5 NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 2121 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding p.E2121fs*28(2) NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) TCTTCCCCTTCTTTTTTTTGCC 0.381 8 824 --- --- --- --- FOXD4 2298 broad.mit.edu 37 9 117406 117407 + Frame_Shift_Ins INS - - G TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr9:117406_117407insG ENST00000382500.2 - 1 1010_1011 c.713_714insC c.(712-714)cccfs p.P238fs NM_207305.4 NP_997188.2 Q12950 FOXD4_HUMAN forkhead box D4 238 Pro-rich. axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3) 14 all_lung(41;0.218) all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06) Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157) all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154) CTGGCTGCGGCGGGGCAGGGGC 0.743 9 384 --- --- --- --- CDKN2A 1029 broad.mit.edu 37 9 21974679 21974679 + Frame_Shift_Del DEL G G - TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr9:21974679delG ENST00000304494.5 - 1 418 c.148delC c.(148-150)agfs p.Q50fs CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.Q50fs|CDKN2A_ENST00000494262.1_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.Q50fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.Q50fs NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 50 Q -> R (in CMM2). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(25)|p.Q50*(4)|p.0(1)|p.V28_V51del(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CTACCCACCTGGATCGGCCTC 0.682 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 314 1020 --- --- --- --- RP11-262H14.3 0 broad.mit.edu 37 9 66545695 66545695 + RNA DEL A A - TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr9:66545695delA ENST00000445604.2 - 0 669 CTGTAAGAGGAAAAAAAAACA 0.373 7 14 --- --- --- --- ECM2 1842 broad.mit.edu 37 9 95277146 95277148 + In_Frame_Del DEL TCC TCC - rs137929518 byFrequency TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr9:95277146_95277148delTCC ENST00000344604.5 - 4 968_970 c.819_821delGGA c.(817-822)gat>ga p.ED273del CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_In_Frame_Del_p.ED251del NM_001197295.1|NM_001393.3 NP_001184224.1|NP_001384.1 O94769 ECM2_HUMAN extracellular matrix protein 2, female organ and adipocyte specific 273 Poly-Glu. cell-matrix adhesion integrin binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 ctcctcctcatcctcctcctcct 0.606 9 1000 --- --- --- --- RP11-324H6.5 0 broad.mit.edu 37 10 51826259 51826259 + RNA DEL A A - TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr10:51826259delA ENST00000456967.1 - 0 1278 NR_038275.1 TAACAAAAGCAAAAAAAAAAA 0.333 3 5 --- --- --- --- ABCC2 1244 broad.mit.edu 37 10 101559000 101559000 + Frame_Shift_Del DEL A A - TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 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 7 1738 --- --- --- --- TSPAN4 0 broad.mit.edu 37 11 864443 864445 + In_Frame_Del DEL CTG CTG - rs61867552 byFrequency TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr11:864443_864445delCTG ENST00000397404.1 + 5 521_523 c.262_264delCTG c.(262-264)del p.L92del TSPAN4_ENST00000397397.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000525201.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000409531.1_In_Frame_Del_p.L111del|TSPAN4_ENST00000409543.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000397396.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000397406.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000397408.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000346501.4_In_Frame_Del_p.L92del|TSPAN4_ENST00000397411.2_In_Frame_Del_p.L92del NM_001025237.1 NP_001020408.1 O14817 TSN4_HUMAN tetraspanin 4 92 protein complex assembly integral to plasma membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1) 3 all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24) all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) ACAGTTCTTCCTGCTGCTGCTGC 0.650 11 818 --- --- --- --- APBB1 322 broad.mit.edu 37 11 6432090 6432092 + In_Frame_Del DEL TCC TCC - rs145320037 TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr11:6432090_6432092delTCC ENST00000389906.2 - 2 585_587 c.486_488delGGA c.(484-489)gat>ga p.ED162del APBB1_ENST00000533407.1_Intron|APBB1_ENST00000311051.3_In_Frame_Del_p.ED162del|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 8 345 --- --- --- --- RRP8 23378 broad.mit.edu 37 11 6623336 6623338 + In_Frame_Del DEL TCC TCC - TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr11:6623336_6623338delTCC ENST00000254605.6 - 2 324_326 c.207_209delGGA c.(205-210)gaa>ga p.EE69del RRP8_ENST00000534343.1_Intron NM_015324.3 NP_056139.1 O43159 RRP8_HUMAN ribosomal RNA processing 8, methyltransferase, homolog (yeast) 69 Poly-Glu. chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2) 13 CTTCTTCCTTTCCTCCTCCTCCT 0.532 7 525 --- --- --- --- SPON1 10418 broad.mit.edu 37 11 14252331 14252334 + RNA DEL TTCA TTCA - rs5789832 TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr11:14252331_14252334delTTCA ENST00000310358.7 + 0 1360 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein cell adhesion extracellular space|proteinaceous extracellular matrix protein binding NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 21 Epithelial(150;0.00898) ccttccttccttcattttttcGTG 0.475 3 5 --- --- --- --- AP5B1 91056 broad.mit.edu 37 11 65546346 65546356 + Frame_Shift_Del DEL GCCAGCAAAGA GCCAGCAAAGA - TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr11:65546346_65546356delGCCAGCAAAGA ENST00000532090.2 - 2 1818_1828 c.1608_1618delTCTTTGCTGGC c.(1606-1620)gcacfs p.ALCWH536fs NM_138368.4 NP_612377.4 Q2VPB7 YK046_HUMAN adaptor-related protein complex 5, beta 1 subunit 479 protein binding lung(1) 1 ATTTGCAGGTGCCAGCAAAGAGCTTCATCCC 0.597 10 139 --- --- --- --- UVRAG 7405 broad.mit.edu 37 11 75694431 75694431 + Splice_Site DEL A A - TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr11:75694431delA ENST00000356136.3 + 8 941 c.699_splice c.e8-1 p.K236_splice UVRAG_ENST00000533454.1_5'UTR|UVRAG_ENST00000528420.1_Splice_Site_p.K135_splice|UVRAG_ENST00000531818.1_5'UTR|UVRAG_ENST00000532130.1_5'UTR NM_003369.3 NP_003360.2 Q9P2Y5 UVRAG_HUMAN UV radiation resistance associated 236 DNA repair|positive regulation of autophagy early endosome|late endosome|lysosome protein binding central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2) 32 ATTTATTTAGAAAAAAAAAAG 0.303 7 198 --- --- --- --- RP11-377D9.3 0 broad.mit.edu 37 12 13174142 13174150 + RNA DEL AACAACAAC AACAACAAC - rs113537246 TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr12:13174142_13174150delAACAACAAC ENST00000543321.1 + 0 1025 ctgtctcaaaaacaacaacaacaacaaca 0.560 8 45 --- --- --- --- SCAF11 9169 broad.mit.edu 37 12 46318575 46318577 + In_Frame_Del DEL GGT GGT - TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr12:46318575_46318577delGGT ENST00000465950.1 - 2 4104_4106 c.2895_2897delACC c.(2893-2898)ccc>cc p.PP969del SCAF11_ENST00000549162.1_In_Frame_Del_p.PP1092del|SCAF11_ENST00000419565.2_In_Frame_Del_p.PP1284del|SCAF11_ENST00000369367.3_In_Frame_Del_p.PP1284del 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 9 724 --- --- --- --- MYO1A 4640 broad.mit.edu 37 12 57422572 57422573 + Frame_Shift_Ins INS - - T TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr12:57422572_57422573insT ENST00000442789.2 - 29 3385_3386 c.3098_3099insA c.(3097-3099)aggfs p.R1033fs MYO1A_ENST00000544473.1_Frame_Shift_Ins_p.R871fs|MYO1A_ENST00000300119.3_Frame_Shift_Ins_p.R1033fs|TAC3_ENST00000415231.1_5'UTR NM_001256041.1 NP_001242970.1 Q9UBC5 MYO1A_HUMAN myosin IA 1033 sensory perception of sound|vesicle localization brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex actin binding|ATP binding|calmodulin binding|motor activity p.?(1) breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3) 50 AATGACTCCCCTTTTTTTTGTA 0.559 11 700 --- --- --- --- ZFC3H1 196441 broad.mit.edu 37 12 72057256 72057258 + In_Frame_Del DEL GCT GCT - TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr12:72057256_72057258delGCT ENST00000378743.3 - 1 491_493 c.133_135delAGC c.(133-135)del p.S45del ZFC3H1_ENST00000548100.1_In_Frame_Del_p.S45del|THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000552037.1_In_Frame_Del_p.S45del NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing 45 Ser-rich. RNA processing intracellular metal ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GCCCGCCGCCGCTGCTGCTGCTG 0.631 OREG0021993 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 1521 --- --- --- --- VPS37B 79720 broad.mit.edu 37 12 123351892 123351892 + Frame_Shift_Del DEL G G - TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr12:123351892delG ENST00000267202.2 - 4 1010 c.629delC c.(628-630)cafs p.P213fs NM_024667.2 NP_078943.1 Q9H9H4 VP37B_HUMAN vacuolar protein sorting 37 homolog B (S. cerevisiae) 213 Pro-rich. cellular membrane organization|endosome transport|protein transport late endosome membrane p.P211fs*>76(1) breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1) 5 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205) CGGGGGTGGTGGGGGGGGGAT 0.716 9 172 --- --- --- --- PABPC3 5042 broad.mit.edu 37 13 25671804 25671806 + In_Frame_Del DEL GCT GCT - TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr13:25671804_25671806delGCT ENST00000281589.3 + 1 1505_1507 c.1468_1470delGCT c.(1468-1470)del p.A496del NM_030979.2 NP_112241.2 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 496 mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) ACGTCctgcagctgctgctgctg 0.532 12 406 --- --- --- --- ARHGAP5 394 broad.mit.edu 37 14 32562696 32562696 + Frame_Shift_Del DEL A A - TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr14:32562696delA ENST00000345122.3 + 2 3136 c.2821delA c.(2821-2823)aafs p.K942fs ARHGAP5_ENST00000539826.2_Frame_Shift_Del_p.K942fs|ARHGAP5_ENST00000556611.1_Frame_Shift_Del_p.K942fs|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000432921.1_Frame_Shift_Del_p.K942fs NM_001030055.1 NP_001025226.1 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 942 cell adhesion|Rho protein signal transduction cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding p.N943fs*2(1) NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4) 55 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) TGTTCTAGAGAAAAAAAATAT 0.343 7 542 --- --- --- --- KTN1-AS1 0 broad.mit.edu 37 14 56017469 56017470 + RNA DEL AC AC - TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr14:56017469_56017470delAC ENST00000554558.1 - 0 364 cttgtctcaaacacacacacac 0.450 2 4 --- --- --- --- DDX24 57062 broad.mit.edu 37 14 94545821 94545823 + In_Frame_Del DEL CCT CCT - TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr14:94545821_94545823delCCT ENST00000330836.5 - 2 397_399 c.266_268delAGG c.(265-270)gga>g p.EG89del DDX24_ENST00000544005.1_Intron|DDX24_ENST00000555054.1_In_Frame_Del_p.EG46del NM_020414.3 NP_065147.1 Q9GZR7 DDX24_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 24 89 Poly-Glu. RNA metabolic process cytoplasm|nucleolus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1) 23 all_cancers(154;0.12) Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207) CTAGACTTTCCCTCCTCCTCCTC 0.443 7 1037 --- --- --- --- HERC2 8924 broad.mit.edu 37 15 28515875 28515876 + Frame_Shift_Ins INS - - TC TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr15:28515875_28515876insTC ENST00000261609.7 - 10 1330_1331 c.1222_1223insGA c.(1222-1224)gccfs p.A408fs NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 408 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) CAGCGGAGGCATACAGGGCGTA 0.515 16 438 --- --- --- --- RP11-382A20.4 0 broad.mit.edu 37 15 84063040 84063041 + RNA INS - - AGGG rs71464540 TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr15:84063040_84063041insAGGG ENST00000565495.1 + 0 264 gggagggagggaggaaggatgg 0.554 7 20 --- --- --- --- CTD-2643K12.3 0 broad.mit.edu 37 15 94521852 94521853 + RNA INS - - CTTT rs149780112 by1000genomes TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr15:94521852_94521853insCTTT ENST00000558874.1 - 0 1354 tttcttccttcctttctttctt 0.327 7 22 --- --- --- --- RP11-420N3.2 0 broad.mit.edu 37 16 5313079 5313080 + RNA INS - - GGG TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr16:5313079_5313080insGGG ENST00000569895.1 + 0 304 gtgacggtggtggtggtggtgg 0.475 7 272 --- --- --- --- RP11-1166P10.6 0 broad.mit.edu 37 16 32024444 32024445 + RNA DEL CA CA - TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr16:32024444_32024445delCA ENST00000566806.1 - 0 621 agtccatctccacacacacaca 0.460 3 3 --- --- --- --- EDC4 23644 broad.mit.edu 37 16 67913786 67913788 + In_Frame_Del DEL AGC AGC - TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr16:67913786_67913788delAGC ENST00000358933.5 + 16 2094_2096 c.1855_1857delAGC c.(1855-1857)del p.S629del NM_014329.4 NP_055144.3 Q6P2E9 EDC4_HUMAN enhancer of mRNA decapping 4 629 Ser-rich. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) cagcagcggtagcagcagcagca 0.616 8 461 --- --- --- --- CDH3 1001 broad.mit.edu 37 16 68718504 68718504 + Frame_Shift_Del DEL A A - TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr16:68718504delA ENST00000264012.4 + 10 1745 c.1201delA c.(1201-1203)aafs p.K401fs CDH3_ENST00000429102.2_Frame_Shift_Del_p.K401fs|CDH3_ENST00000581171.1_Frame_Shift_Del_p.K346fs NM_001793.4 NP_001784.2 P22223 CADH3_HUMAN cadherin 3, type 1, P-cadherin (placental) 401 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception integral to membrane calcium ion binding p.?(2) NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1) 25 Ovarian(137;0.0564) OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384) TTTTGAGGCCAAAAACCAGCA 0.522 7 2407 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7578464 7578476 + Frame_Shift_Del DEL GGGTGCCGGGCGG GGGTGCCGGGCGG - rs72661116 TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr17:7578464_7578476delGGGTGCCGGGCGG ENST00000420246.2 - 5 586_598 c.454_466delCCGCCCGGCACCC c.(454-468)gcfs p.PPGTR152fs TP53_ENST00000359597.4_Frame_Shift_Del_p.PPGTR152fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.PPGTR152fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.PPGTR152fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.PPGTR152fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.PPGTR152fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 152 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. P -> A (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.P152L(66)|p.G154V(46)|p.T155N(22)|p.P152S(22)|p.T155P(17)|p.T155I(14)|p.G154G(12)|p.R156fs*14(10)|p.T155A(10)|p.P153fs*28(10)|p.G154S(9)|p.P152R(8)|p.0?(8)|p.P153S(8)|p.P152T(7)|p.P152fs*18(7)|p.P153P(7)|p.G154D(6)|p.T150fs*16(6)|p.P153L(6)|p.P152fs*29(5)|p.T155T(5)|p.P152P(5)|p.P152fs*14(5)|p.?(5)|p.G154C(4)|p.P152Q(4)|p.G61V(3)|p.R156S(3)|p.R156fs*25(3)|p.R156G(3)|p.G154I(3)|p.T155_R156insDSTPPPGT(3)|p.G22V(3)|p.P153T(3)|p.G154fs*27(3)|p.T155fs*23(2)|p.R156C(2)|p.G154fs*16(2)|p.G154fs*14(2)|p.R156_I162delRVRAMAI(2)|p.P152A(2)|p.T155S(2)|p.P20L(2)|p.P59L(2)|p.P153fs*26(2)|p.P153fs*22(2)|p.T23_R24insDSTPPPGT(1)|p.R156_V157del(1)|p.P152fs*27(1)|p.G154_R156delGTR(1)|p.P152fs*28(1)|p.T155fs*26(1)|p.T155fs*25(1)|p.T155_A161delTRVRAMA(1)|p.G61C(1)|p.Q144_G154del11(1)|p.D148_T155delDSTPPPGT(1)|p.R156_A161delRVRAMA(1)|p.R156del(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.T57fs*16(1)|p.T150_P153delTPPP(1)|p.T62P(1)|p.G154A(1)|p.P152del(1)|p.T62A(1)|p.S149fs*72(1)|p.T62N(1)|p.T62I(1)|p.Q144fs*16(1)|p.P153_G154insX(1)|p.P152_P153del(1)|p.R156_R158delRVR(1)|p.P20R(1)|p.T23P(1)|p.T23A(1)|p.T23N(1)|p.S149fs*17(1)|p.T23I(1)|p.P152_P153insXXX(1)|p.T155_R156delTR(1)|p.P153fs*16(1)|p.P151_V173del23(1)|p.P59R(1)|p.G22C(1)|p.R156_A161del(1)|p.P153fs*20(1)|p.D148fs*23(1)|p.T62_R63insDSTPPPGT(1)|p.G154fs*22(1)|p.P153F(1)|p.T18fs*16(1)|p.P153A(1)|p.P153H(1)|p.T155fs*15(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAA 0.606 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 50 351 --- --- --- --- DNAH2 146754 broad.mit.edu 37 17 7707727 7707728 + In_Frame_Ins INS - - GAG TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr17:7707727_7707728insGAG ENST00000572933.1 + 59 10586_10587 c.9126_9127insGAG c.(9124-9129)tgagga>tgGAGagga p.3042_3042*>WR DNAH2_ENST00000389173.2_In_Frame_Ins_p.3042_3042*>WR Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 3042 Stalk (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) AGAAGCAGTGTGAGGAGTACCT 0.579 59 239 --- --- --- --- RP11-178C3.2 0 broad.mit.edu 37 17 58050857 58050857 + RNA DEL G G - TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr17:58050857delG ENST00000586209.1 + 0 158 TTTTTTTTTTGGCAGTTTTTA 0.423 7 97 --- --- --- --- CBX8 57332 broad.mit.edu 37 17 77769890 77769890 + Frame_Shift_Del DEL T T - TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr17:77769890delT ENST00000269385.4 - 4 329 c.212delA c.(211-213)agfs p.K71fs CBX8_ENST00000485449.1_5'UTR NM_020649.2 NP_065700.1 Q9HC52 CBX8_HUMAN chromobox homolog 8 71 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear chromatin|PcG protein complex methylated histone residue binding breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1) 14 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) GGGTCCACGCTTTTTGGGGCC 0.512 7 1661 --- --- --- --- RP11-638L3.1 0 broad.mit.edu 37 18 65330493 65330496 + RNA DEL TCTT TCTT - TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr18:65330493_65330496delTCTT ENST00000583687.1 + 0 204 NR_033921.1 ccttccttcctctttctttctcct 0.480 8 4 --- --- --- --- ZSWIM4 65249 broad.mit.edu 37 19 13941586 13941587 + Frame_Shift_Ins INS - - C TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr19:13941586_13941587insC ENST00000254323.2 + 13 2881_2882 c.2692_2693insC c.(2692-2694)acgfs p.T898fs ZSWIM4_ENST00000440752.2_Frame_Shift_Ins_p.T732fs NM_023072.2 NP_075560.2 Q9H7M6 ZSWM4_HUMAN zinc finger, SWIM-type containing 4 898 zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19) CCCCTTAGGGGCACGCCGGGCC 0.693 13 615 --- --- --- --- LSM14A 26065 broad.mit.edu 37 19 34710340 34710340 + Frame_Shift_Del DEL C C - TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr19:34710340delC ENST00000544216.3 + 7 903 c.826delC c.(826-828)ggfs p.R276fs LSM14A_ENST00000540746.2_Frame_Shift_Del_p.R235fs|LSM14A_ENST00000433627.5_Frame_Shift_Del_p.R276fs NM_015578.2 NP_056393.2 Q8ND56 LS14A_HUMAN LSM14A, SCD6 homolog A (S. cerevisiae) 276 cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1) 22 Esophageal squamous(110;0.162) TGGGGGTCATCGGGGTGGCAG 0.438 7 1118 --- --- --- --- C19orf55 148137 broad.mit.edu 37 19 36255947 36255949 + In_Frame_Del DEL CTC CTC - TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr19:36255947_36255949delCTC ENST00000544099.1 + 7 702_704 c.639_641delCTC c.(637-642)atc>at p.IS213del C19orf55_ENST00000396908.4_In_Frame_Del_p.IS213del Q2NL68 CS055_HUMAN chromosome 19 open reading frame 55 213 Ser-rich. cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1) 15 all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) AAGCCTCCATCTCCTCCTCCTCC 0.631 10 1778 --- --- --- --- SPRED3 399473 broad.mit.edu 37 19 38882864 38882866 + In_Frame_Del DEL CCT CCT - TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr19:38882864_38882866delCCT ENST00000587013.1 + 3 569_571 c.491_493delCCT c.(490-495)ccc>c p.PS164del SPRED3_ENST00000338502.4_In_Frame_Del_p.PS120del|SPRED3_ENST00000587564.2_3'UTR|SPRED3_ENST00000586301.1_In_Frame_Del_p.PS120del Q2MJR0 SPRE3_HUMAN sprouty-related, EVH1 domain containing 3 120 multicellular organismal development central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1) 9 all_cancers(60;3.4e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) TCACTCAccccctcctcctcctc 0.645 16 186 --- --- --- --- SNAP25-AS1 0 broad.mit.edu 37 20 10009879 10009880 + RNA INS - - GG rs61333141 by1000genomes TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr20:10009879_10009880insGG ENST00000603542.1 - 0 747 SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000438646.1_RNA NR_040710.1 agagagagagagagagaAgaag 0.441 10 1 --- --- --- --- FRG1B 0 broad.mit.edu 37 20 29628310 29628312 + In_Frame_Del DEL AGG AGG - rs111939959 TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 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 12 410 --- --- --- --- RP5-1043L13.1 0 broad.mit.edu 37 20 58889825 58889826 + RNA INS - - CCAT TCGA-FZ-5920-01A-11D-1609-08 TCGA-FZ-5920-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4dc2a8c-3f26-4460-97fa-4cee0294a823 e2c6f1e8-99b9-4078-afa3-8eea48b96972 g.chr20:58889825_58889826insCCAT ENST00000432910.1 + 0 332 NR_046099.1 catccatcctcccatcctccca 0.569 9 80 --- --- --- ---