Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut KAT6A 7994 broad.mit.edu 37 8 41790659 41790659 + Silent SNP T T G TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr8:41790659T>G ENST00000396930.3 - 18 5622 c.5079A>C c.(5077-5079)ccA>ccC p.P1693P KAT6A_ENST00000406337.1_Silent_p.P1693P|KAT6A_ENST00000265713.2_Silent_p.P1693P NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 1693 Gln/Pro-rich. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding ggggagggggtgggggtggag 0.627000 11 114 0 0 1 0 0 BTN2A3P 0 broad.mit.edu 37 6 26422353 26422353 + RNA SNP C C T rs141013110 TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr6:26422353C>T ENST00000466808.2 + 0 7 p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 7 600 0 0 1 0 0 ZNRD1-AS1 0 broad.mit.edu 37 6 29976918 29976918 + RNA SNP G G A TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr6:29976918G>A ENST00000376797.3 - 0 761 ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA TTTTCTTCCCGCAGATAGAAA 0.522000 5 372 0 0 1 0 0 TFR2 7036 broad.mit.edu 37 7 100230653 100230653 + Missense_Mutation SNP G G A TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr7:100230653G>A ENST00000462107.1 - 7 1107 c.820C>T c.(820-822)Cgc>Tgc p.R274C TFR2_ENST00000544242.1_5'UTR|TFR2_ENST00000223051.3_Missense_Mutation_p.R274C|TFR2_ENST00000431692.1_Missense_Mutation_p.R274C Q9UP52 TFR2_HUMAN transferrin receptor 2 274 cellular iron ion homeostasis|iron ion transport|proteolysis cytoplasm|integral to plasma membrane peptidase activity|transferrin receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 23 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) ACCCCCACGCGCACCAGCAGC 0.677000 10 887 0 0 1 0 0 CROCCP3 0 broad.mit.edu 37 1 16809784 16809784 + RNA SNP T T G TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr1:16809784T>G ENST00000263511.4 - 0 2001 NR_023386.1 CCCGGCACCTTCTCAGGAGCT 0.632000 6 50 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100350550 100350550 + RNA SNP T T C TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr7:100350550T>C ENST00000542585.1 + 0 2970 ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane p.L941P(1) NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) ACAGAAAAACTCACCATCCCC 0.517000 6 642 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105416054 105416054 + Missense_Mutation SNP G G A TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr14:105416054G>A ENST00000333244.5 - 7 5853 c.5734C>T c.(5734-5736)Ccc>Tcc p.P1912S AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1912 nucleus p.P1912S(1) cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TTGAAACTGGGCATATCCACC 0.627000 7 1297 0 0 1 0 0 CACNA1A 773 broad.mit.edu 37 19 13338336 13338336 + Missense_Mutation SNP C C T TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr19:13338336C>T ENST00000360228.5 - 37 5533 c.5534G>A c.(5533-5535)cGc>cAc p.R1845H CACNA1A_ENST00000573710.2_Intron NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 1846 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) GTAAGGCATGCGGCCCCTGGC 0.493000 5 331 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132466657 132466657 + Silent SNP G G A TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr12:132466657G>A ENST00000333577.4 + 6 1780 c.1671G>A c.(1669-1671)ccG>ccA p.P557P EP400_ENST00000332482.4_Silent_p.P484P|EP400_ENST00000389561.2_Silent_p.P521P|EP400_ENST00000389562.2_Silent_p.P520P|EP400_ENST00000330386.6_Silent_p.P521P Q96L91 EP400_HUMAN E1A binding protein p400 557 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity 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) CCCCCACGCCGCAGGCCGCGC 0.592000 8 1224 0 0 1 0 0 KIAA0020 9933 broad.mit.edu 37 9 2837296 2837296 + Missense_Mutation SNP T T C TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr9:2837296T>C ENST00000397885.2 - 3 394 c.188A>G c.(187-189)aAg>aGg p.K63R NM_014878.4 NP_055693.4 Q15397 K0020_HUMAN KIAA0020 63 endoplasmic reticulum|nucleolus RNA binding NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1) 21 GBM - Glioblastoma multiforme(50;0.0319) CTTTACACCCTTTTTCCCAAG 0.388000 5 851 0 0 1 0 0 PTPN21 11099 broad.mit.edu 37 14 88971661 88971661 + Missense_Mutation SNP G G A TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr14:88971661G>A ENST00000556564.1 - 5 787 c.503C>T c.(502-504)gCc>gTc p.A168V PTPN21_ENST00000328736.3_Missense_Mutation_p.A168V|RP11-507K2.2_ENST00000555444.1_RNA|PTPN21_ENST00000554628.1_5'UTR NM_007039.3 NP_008970.2 Q16825 PTN21_HUMAN protein tyrosine phosphatase, non-receptor type 21 168 FERM. cytoplasm|cytoskeleton binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 AGGAAACAAGGCAAATTTCTG 0.328000 5 518 0 0 1 0 0 ANKRD30BP2 0 broad.mit.edu 37 21 14414855 14414855 + RNA SNP A A G rs141732548 by1000genomes TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr21:14414855A>G ENST00000507941.1 + 0 95 GCCAATGGCCATGCAGAAGTA 0.448000 11 200 0 0 1 0 0 AURKA 6790 broad.mit.edu 37 20 54945248 54945248 + Missense_Mutation SNP C C G TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr20:54945248C>G ENST00000395909.4 - 11 1743 c.1178G>C c.(1177-1179)tGc>tCc p.C393S AURKA_ENST00000395915.3_Missense_Mutation_p.C393S|AURKA_ENST00000395913.3_Missense_Mutation_p.C393S|AURKA_ENST00000395914.1_Missense_Mutation_p.C393S|AURKA_ENST00000312783.6_Missense_Mutation_p.C393S|AURKA_ENST00000371356.2_Missense_Mutation_p.C393S|AURKA_ENST00000395907.1_3'UTR|AURKA_ENST00000347343.2_Missense_Mutation_p.C393S|AURKA_ENST00000395911.1_Missense_Mutation_p.C393S NM_198433.1 NP_940835.1 O14965 AURKA_HUMAN aurora kinase A 393 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|phosphatidylinositol-mediated signaling|regulation of protein stability|spindle organization cytosol|nucleus|perinuclear region of cytoplasm|spindle microtubule|spindle pole centrosome ATP binding|protein kinase binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2) 22 Colorectal(105;0.202) TTTGTTTTGGCAATTTGATGG 0.453000 5 590 0 0 1 0 0 NEFH 4744 broad.mit.edu 37 22 29885744 29885744 + Silent SNP T T C TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr22:29885744T>C ENST00000310624.6 + 4 2148 c.2115T>C c.(2113-2115)ccT>ccC p.P705P NM_021076.3 NP_066554.2 P12036 NFH_HUMAN neurofilament, heavy polypeptide 711 30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail. cell death|nervous system development neurofilament cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3) 30 CAAAGTCCCCTGAGAAGGCCA 0.562000 6 635 0 0 1 0 0 ARL14EP 120534 broad.mit.edu 37 11 30358275 30358275 + Missense_Mutation SNP G G A TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr11:30358275G>A ENST00000282032.3 + 4 931 c.716G>A c.(715-717)cGc>cAc p.R239H NM_152316.1 NP_689529.1 ADP-ribosylation factor-like 14 effector protein CGCTGTGACCGCAAGTGGCTG 0.448000 6 534 0 0 1 0 0 RPRD2 23248 broad.mit.edu 37 1 150444176 150444176 + Missense_Mutation SNP G G A TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr1:150444176G>A ENST00000401000.4 + 10 2739 c.2674G>A c.(2674-2676)Gta>Ata p.V892I RPRD2_ENST00000369068.4_Missense_Mutation_p.V918I|RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000539519.1_Missense_Mutation_p.V892I Q5VT52 RPRD2_HUMAN regulation of nuclear pre-mRNA domain containing 2 918 Ser-rich. protein binding central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 TGCCTTCAGCGTAAGAGGGAA 0.507000 7 1032 0 0 1 0 0 SASH1 23328 broad.mit.edu 37 6 148792591 148792591 + Missense_Mutation SNP C C A TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr6:148792591C>A ENST00000367467.3 + 6 941 c.466C>A c.(466-468)Cag>Aag p.Q156K NM_015278.3 NP_056093.3 O94885 SASH1_HUMAN SAM and SH3 domain containing 1 156 protein binding breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Ovarian(120;0.0169) OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701) GTATTTCTGGCAGAACTTCCG 0.338000 5 132 1.024e-07 1.08353e-07 1 1 0 L1CAM 3897 broad.mit.edu 37 X 153134383 153134383 + Missense_Mutation SNP G G A TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chrX:153134383G>A ENST00000370060.1 - 12 1481 c.1292C>T c.(1291-1293)gCg>gTg p.A431V L1CAM_ENST00000543994.1_Missense_Mutation_p.A433V|L1CAM_ENST00000538883.1_Missense_Mutation_p.A433V|L1CAM_ENST00000370055.1_Missense_Mutation_p.A426V|L1CAM_ENST00000370057.3_Missense_Mutation_p.A431V|L1CAM_ENST00000361981.3_Missense_Mutation_p.A426V|L1CAM_ENST00000361699.4_Missense_Mutation_p.A431V NM_001278116.1 NP_001265045.1 P32004 L1CAM_HUMAN L1 cell adhesion molecule 431 Ig-like C2-type 5. axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CTGATTGTCCGCAGTCAGGAT 0.617000 5 474 0 0 1 0 0 EEF1B2 1933 broad.mit.edu 37 2 207025366 207025366 + Silent SNP G G A TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr2:207025366G>A ENST00000392222.2 + 2 510 c.135G>A c.(133-135)ccG>ccA p.P45P EEF1B2_ENST00000392221.1_Silent_p.P45P|EEF1B2_ENST00000236957.5_Silent_p.P45P NM_001959.3 NP_001950.1 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 2 45 GST C-terminal. cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity p.P45P(5) breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6) 16 CCAGCCCACCGCCTGCCGACT 0.448000 6 423 0 0 1 0 0 HCFC1 3054 broad.mit.edu 37 X 153222965 153222965 + Missense_Mutation SNP G G A TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chrX:153222965G>A ENST00000310441.7 - 13 3119 c.2153C>T c.(2152-2154)gCg>gTg p.A718V HCFC1_ENST00000369984.4_Missense_Mutation_p.A718V|HCFC1_ENST00000354233.3_Missense_Mutation_p.A649V NM_005334.2 NP_005325.2 P51610 HCFC1_HUMAN host cell factor C1 (VP16-accessory protein) 718 Interaction with SIN3A. cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GATTGTTCCCGCTGGCAGGGG 0.632000 5 346 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625941 29625941 + Missense_Mutation SNP A A T TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr20:29625941A>T ENST00000278882.3 + 5 565 c.185A>T c.(184-186)gAt>gTt p.D62V FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V|FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V p.D62V(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGCATTCAGATGCAATTGGA 0.333000 27 489 0 0 1 0 0 FEN1 2237 broad.mit.edu 37 11 61563230 61563230 + Missense_Mutation SNP G G A TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr11:61563230G>A ENST00000305885.2 + 2 810 c.397G>A c.(397-399)Gtc>Atc p.V133I FADS2_ENST00000574708.1_Intron NM_004111.5 NP_004102.1 P39748 FEN1_HUMAN flap structure-specific endonuclease 1 133 I-domain. base-excision repair|DNA replication, removal of RNA primer|double-strand break repair|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|UV protection mitochondrion|nucleolus|nucleoplasm 5'-3' exonuclease activity|5'-flap endonuclease activity|damaged DNA binding|double-stranded DNA binding|double-stranded DNA specific exodeoxyribonuclease activity|metal ion binding|protein binding|ribonuclease H activity endometrium(1)|large_intestine(4)|lung(1)|ovary(1) 7 GCTGGTGAAGGTCACTAAGCA 0.587000 Editing and processing nucleases 6 429 0 0 1 0 0 PI4KAP2 0 broad.mit.edu 37 22 21829555 21829555 + RNA SNP T T G TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr22:21829555T>G ENST00000450651.1 - 0 1783 p.I530L(4) endometrium(3)|urinary_tract(1) 4 TCCAACATGATAGTGACCAGG 0.607000 4 44 0 0 1 0 0 FAM159A 348378 broad.mit.edu 37 1 53108560 53108560 + Missense_Mutation SNP G G A TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr1:53108560G>A ENST00000517870.1 + 2 358 c.208G>A c.(208-210)Gta>Ata p.V70I FAM159A_ENST00000401050.3_3'UTR NM_001042693.1 NP_001036158.1 Q6UWV7 F159A_HUMAN family with sequence similarity 159, member A 70 integral to membrane endometrium(3)|lung(6)|upper_aerodigestive_tract(1) 10 AGGCCTGTCCGTAGCAGCAGT 0.522000 9 1242 0 0 1 0 0 EDC4 23644 broad.mit.edu 37 16 67913803 67913803 + Silent SNP C C T TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr16:67913803C>T ENST00000358933.5 + 16 2111 c.1872C>T c.(1870-1872)agC>agT p.S624S NM_014329.4 NP_055144.3 Q6P2E9 EDC4_HUMAN enhancer of mRNA decapping 4 624 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) gcagcagcagcagtagcagca 0.602000 6 304 0 0 1 0 0 RPL6 6128 broad.mit.edu 37 12 112843029 112843029 + Silent SNP T T C TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr12:112843029T>C ENST00000424576.2 - 7 1051 c.866A>G c.(865-867)tAa>tGa p.*289* RPL6_ENST00000202773.9_Silent_p.*289* NM_001024662.1 NP_001019833.1 Q02878 RL6_HUMAN ribosomal protein L6 0 endocrine pancreas development|regulation of transcription, DNA-dependent|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit DNA binding|RNA binding|structural constituent of ribosome cervix(1)|large_intestine(6)|lung(3) 10 TTAAGACATTTAGAACACCAA 0.333000 6 213 0 0 1 0 0 C1orf168 199920 broad.mit.edu 37 1 57257973 57257973 + Silent SNP C C T TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr1:57257973C>T ENST00000343433.6 - 2 593 c.513G>A c.(511-513)ggG>ggA p.G171G C1orf168_ENST00000484327.1_5'UTR NM_001004303.4 NP_001004303.3 Q5VWT5 CA168_HUMAN chromosome 1 open reading frame 168 171 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2) 46 TGCCTTTTTGCCCTTCCAGAT 0.498000 6 513 0 0 1 0 0 NWD1 284434 broad.mit.edu 37 19 16884050 16884050 + Missense_Mutation SNP G G A TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr19:16884050G>A ENST00000524140.2 + 11 2942 c.2524G>A c.(2524-2526)Gca>Aca p.A842T NWD1_ENST00000552788.1_Missense_Mutation_p.A842T|NWD1_ENST00000549814.1_Missense_Mutation_p.A842T|NWD1_ENST00000523826.1_Missense_Mutation_p.A636T|NWD1_ENST00000379808.3_Missense_Mutation_p.A842T|NWD1_ENST00000339803.6_Missense_Mutation_p.A707T NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 842 ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 CCAGTTGTGCGCACACCCTGT 0.622000 5 310 0 0 1 0 0 WRAP73 49856 broad.mit.edu 37 1 3551634 3551634 + Missense_Mutation SNP C C T TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr1:3551634C>T ENST00000378322.3 - 8 801 c.743G>A c.(742-744)cGc>cAc p.R248H WRAP73_ENST00000270708.7_Missense_Mutation_p.R248H Q9P2S5 WRP73_HUMAN WD repeat containing, antisense to TP73 248 centrosome protein binding endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1) 12 ATTAAGGATGCGCACCTGAGG 0.547000 8 695 0 0 1 0 0 KRTAP10-9 386676 broad.mit.edu 37 21 46047876 46047876 + Missense_Mutation SNP G G A TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr21:46047876G>A ENST00000397911.3 + 1 837 c.788G>A c.(787-789)cGc>cAc p.R263H TSPEAR_ENST00000323084.4_Intron|KRTAP10-9_ENST00000484861.1_Intron NM_198690.2 NP_941963.2 P60411 KR109_HUMAN keratin associated protein 10-9 263 keratin filament endometrium(1)|kidney(1)|large_intestine(1)|lung(6) 9 AGCTATTGCCGCCAGGCCTCC 0.682000 5 699 0 0 1 0 0 TCHH 7062 broad.mit.edu 37 1 152082565 152082565 + Missense_Mutation SNP A A C TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr1:152082565A>C ENST00000368804.1 - 2 3127 c.3128T>G c.(3127-3129)cTc>cGc p.L1043R NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 1043 10 X 30 AA tandem repeats. keratinization cytoskeleton calcium ion binding p.L1043R(1) NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCGCTCCTGGAGTCTTCTTTT 0.592000 7 841 0 0 1 0 0 GTF2IRD2P1 0 broad.mit.edu 37 7 72663998 72663998 + RNA SNP T T G TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr7:72663998T>G ENST00000425256.1 - 0 902 NR_002164.1 ATAGCCGGGGTCCTTGAATAC 0.488000 4 222 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105414639 105414639 + Silent SNP A A G TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr14:105414639A>G ENST00000333244.5 - 7 7268 c.7149T>C c.(7147-7149)gaT>gaC p.D2383D AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 2383 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GGAGTTTCACATCCACTTGGC 0.632000 8 1172 0 0 1 0 0 KARS 3735 broad.mit.edu 37 16 75665392 75665392 + Missense_Mutation SNP G G A TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr16:75665392G>A ENST00000319410.5 - 10 1379 c.1258C>T c.(1258-1260)Cgg>Tgg p.R420W KARS_ENST00000568378.1_Intron|KARS_ENST00000302445.3_Missense_Mutation_p.R392W NM_001130089.1 NP_001123561.1 Q15046 SYK_HUMAN lysyl-tRNA synthetase 392 interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 18 L-Lysine(DB00123) TTGATTCGCCGGAAGGGTGGG 0.522000 6 496 0 0 1 0 0 IFNL3 282617 broad.mit.edu 37 19 39735130 39735130 + Missense_Mutation SNP T T A TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr19:39735130T>A ENST00000413851.2 - 2 223 c.185A>T c.(184-186)gAg>gTg p.E62V NM_172139.2 NP_742151.2 interferon, lambda 3 CAGAAGCGACTCTTCCTAGAC 0.617000 4 95 0 0 1 0 0 OVGP1 5016 broad.mit.edu 37 1 111957318 111957318 + Missense_Mutation SNP C C T TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr1:111957318C>T ENST00000369732.3 - 11 1860 c.1805G>A c.(1804-1806)gGc>gAc p.G602D NM_002557.3 NP_002548.3 Q12889 OVGP1_HUMAN oviductal glycoprotein 1, 120kDa 602 chitin catabolic process|female pregnancy|single fertilization transport vesicle cation binding|chitinase activity NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 39 all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302) Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14) GGGGTGAGTGCCCACCTCAGA 0.537000 5 364 0 0 1 0 0 UBBP4 0 broad.mit.edu 37 17 21731144 21731144 + Missense_Mutation SNP T T G rs149119138 by1000genomes TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr17:21731144T>G ENST00000584755.1 + 2 843 c.446T>G c.(445-447)cTg>cGg p.L149R UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR p.L149R(18) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GTCCTGCGTCTGAGAGGTGGT 0.542000 9 398 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40367841 40367841 + Silent SNP T T G TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr19:40367841T>G ENST00000221347.6 - 29 13126 c.13119A>C c.(13117-13119)gcA>gcC p.A4373A NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 4373 TIL 10. extracellular region protein binding p.A4373A(2) NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) TCGTAAGGGGTGCAGGGGACG 0.627000 34 232 0 0 1 0 0 ABHD12B 145447 broad.mit.edu 37 14 51370808 51370808 + Missense_Mutation SNP G G A TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr14:51370808G>A ENST00000337334.2 + 12 974 c.959G>A c.(958-960)cGc>cAc p.R320H ABHD12B_ENST00000395752.1_Missense_Mutation_p.R213H|PYGL_ENST00000532462.1_Intron|ABHD12B_ENST00000353130.1_Missense_Mutation_p.R243H NM_001206673.1 NP_001193602.1 Q7Z5M8 AB12B_HUMAN abhydrolase domain containing 12B 320 hydrolase activity breast(2)|endometrium(1)|large_intestine(2)|lung(5) 10 all_epithelial(31;0.00481)|Breast(41;0.148) GAAATTGCACGCAATGCATAC 0.428000 6 694 0 0 1 0 0 TMEM71 137835 broad.mit.edu 37 8 133764201 133764201 + Silent SNP G G A TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr8:133764201G>A ENST00000356838.3 - 4 286 c.144C>T c.(142-144)tgC>tgT p.C48C TMEM71_ENST00000523829.1_Silent_p.C48C|TMEM71_ENST00000517538.1_5'UTR|TMEM71_ENST00000377901.4_Silent_p.C48C NM_144649.2 NP_653250.2 Q6P5X7 TMM71_HUMAN transmembrane protein 71 48 integral to membrane endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2) 16 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) CTATGGAGCCGCATTCAAAAG 0.453000 5 306 0 0 1 0 0 MLANA 2315 broad.mit.edu 37 9 5897571 5897571 + Missense_Mutation SNP G G A TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr9:5897571G>A ENST00000381477.3 + 3 252 c.92G>A c.(91-93)gGc>gAc p.G31D MLANA_ENST00000381476.1_Missense_Mutation_p.G31D|MLANA_ENST00000381471.1_Missense_Mutation_p.G31D|MLANA_ENST00000490518.1_3'UTR NM_005511.1 NP_005502.1 Q16655 MAR1_HUMAN melan-A 31 endoplasmic reticulum membrane|integral to plasma membrane|melanosome|trans-Golgi network protein binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1) 8 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(1;1.15e-06)|Lung(218;0.103) GCTGGGATCGGCATCCTGACA 0.448000 5 531 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547141 132547141 + Silent SNP G G A TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr12:132547141G>A ENST00000333577.4 + 48 8446 c.8337G>A c.(8335-8337)caG>caA p.Q2779Q EP400_ENST00000332482.4_Silent_p.Q2706Q|EP400_ENST00000389561.2_Silent_p.Q2743Q|EP400_ENST00000389562.2_Silent_p.Q2742Q|EP400_ENST00000330386.6_Silent_p.Q2662Q Q96L91 EP400_HUMAN E1A binding protein p400 2779 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.Q2742Q(2) 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) agcagcaacagcagcagcagc 0.597000 8 332 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151921149 151921149 + Nonsense_Mutation SNP G G A rs4024370 TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr7:151921149G>A ENST00000355193.2 - 20 3492 c.3274C>T c.(3274-3276)Cga>Tga p.R1092* KMT2C_ENST00000262189.6_Nonsense_Mutation_p.R1092* lysine (K)-specific methyltransferase 2C CTATAGTTTCGATAGCAGACT 0.388000 7 325 0 0 1 0 0 NOX1 27035 broad.mit.edu 37 X 100118222 100118222 + Missense_Mutation SNP C C T TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chrX:100118222C>T ENST00000372966.3 - 4 468 c.263G>A c.(262-264)cGc>cAc p.R88H NOX1_ENST00000372964.1_Missense_Mutation_p.R88H|NOX1_ENST00000372960.4_Missense_Mutation_p.R51H|NOX1_ENST00000217885.5_Missense_Mutation_p.R88H NM_007052.4|NM_013955.2 NP_008983.2|NP_039249.1 Q9Y5S8 NOX1_HUMAN NADPH oxidase 1 88 Ferric oxidoreductase. angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation cell junction|early endosome|invadopodium membrane|NADPH oxidase complex electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity p.R88H(2) cervix(1)|lung(3)|ovary(1)|skin(2) 7 TCTCAGTGTGCGGCTGCAAAA 0.433000 5 683 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152586146 152586146 + Missense_Mutation SNP C C G TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr2:152586146C>G ENST00000427231.2 - 4 263 c.61G>C c.(61-63)Gaa>Caa p.E21Q NEB_ENST00000409198.1_Missense_Mutation_p.E21Q|NEB_ENST00000397345.3_Missense_Mutation_p.E21Q|NEB_ENST00000172853.10_Missense_Mutation_p.E21Q|NEB_ENST00000603639.1_Missense_Mutation_p.E21Q|NEB_ENST00000604864.1_Missense_Mutation_p.E21Q NM_001164507.1 NP_001157979.1 P20929 NEBU_HUMAN nebulin 21 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) GGCACCTCTTCGTAAACCACT 0.498000 5 501 0 0 1 0 0 LINGO1 84894 broad.mit.edu 37 15 77907685 77907685 + Silent SNP G G A TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr15:77907685G>A ENST00000355300.6 - 2 738 c.564C>T c.(562-564)agC>agT p.S188S LINGO1_ENST00000561030.1_Silent_p.S182S NM_032808.5 NP_116197.4 Q96FE5 LIGO1_HUMAN leucine rich repeat and Ig domain containing 1 188 negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane p.S182S(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 31 TGTTGAGGCCGCTGAAGGCGC 0.582000 5 617 0 0 1 0 0 ZNF343 79175 broad.mit.edu 37 20 2464182 2464182 + Silent SNP A A G TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr20:2464182A>G ENST00000278772.4 - 6 1912 c.1425T>C c.(1423-1425)agT>agC p.S475S RP4-734P14.4_ENST00000461548.1_Intron NM_024325.4 NP_077301.4 Q6P1L6 ZN343_HUMAN zinc finger protein 343 475 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.S475S(2) breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1) 25 GTGATTTCCGACTAAAGCCTC 0.527000 5 346 0 0 1 0 0 OTUD4 54726 broad.mit.edu 37 4 146059041 146059041 + Silent SNP A A G TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr4:146059041A>G ENST00000454497.2 - 21 2828 c.2691T>C c.(2689-2691)caT>caC p.H897H OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Silent_p.H962H NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 961 protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) GAGTGGGAGGATGAGCCTTTC 0.478000 6 733 0 0 1 0 0 PRICKLE2 166336 broad.mit.edu 37 3 64133348 64133348 + Missense_Mutation SNP C C T TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr3:64133348C>T ENST00000295902.6 - 7 1403 c.818G>A c.(817-819)gGc>gAc p.G273D PRICKLE2_ENST00000564377.1_Missense_Mutation_p.G329D NM_198859.3 NP_942559.1 Q7Z3G6 PRIC2_HUMAN prickle homolog 2 (Drosophila) 273 LIM zinc-binding 3. cytoplasm|nuclear membrane zinc ion binding breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1) 32 Lung NSC(201;0.136) BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497) CCAGTGTTGGCCATCATAGGT 0.522000 5 487 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100350361 100350361 + RNA SNP T T C TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr7:100350361T>C ENST00000542585.1 + 0 2781 ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) ACGGAAAAACTCACCATCCCC 0.502000 8 606 0 0 1 0 0 AP005901.1 0 broad.mit.edu 37 18 15323347 15323347 + RNA SNP T T C TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr18:15323347T>C ENST00000455308.2 - 0 501 NR_027417.1 CCAATAAAAGTGGTGTGTGGC 0.303000 8 42 0 0 1 0 0 UIMC1 51720 broad.mit.edu 37 5 176370364 176370364 + Silent SNP G G A TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr5:176370364G>A ENST00000377219.2 - 10 1735 c.1569C>T c.(1567-1569)taC>taT p.Y523Y UIMC1_ENST00000511320.1_Silent_p.Y523Y|UIMC1_ENST00000503273.1_5'UTR|UIMC1_ENST00000377227.4_Silent_p.Y523Y|UIMC1_ENST00000506128.1_Silent_p.Y357Y NM_016290.4 NP_057374.3 Q96RL1 UIMC1_HUMAN ubiquitin interaction motif containing 1 523 Zinc-finger-like region. double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent BRCA1-A complex histone binding|K63-linked polyubiquitin binding NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 21 all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806) Medulloblastoma(196;0.0145)|all_neural(177;0.0325) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GACCATTGCAGTACATGGCAT 0.433000 6 955 0 0 1 0 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296167 39296167 + Silent SNP A A G TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr17:39296167A>G ENST00000345847.4 - 1 572 c.573T>C c.(571-573)atT>atC p.I191I NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 187 keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 GGCAGGTGGAAATGACACAGG 0.627000 5 56 0 0 1 0 0 PPP1R12B 4660 broad.mit.edu 37 1 202394748 202394748 + Missense_Mutation SNP C C T TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr1:202394748C>T ENST00000406302.3 + 4 749 c.596C>T c.(595-597)gCc>gTc p.A199V PPP1R12B_ENST00000336894.4_Missense_Mutation_p.A199V|PPP1R12B_ENST00000480184.1_Missense_Mutation_p.A199V|PPP1R12B_ENST00000356764.2_Missense_Mutation_p.A199V NM_001197131.1|NM_002481.3 NP_001184060.1|NP_002472.2 O60237 MYPT2_HUMAN protein phosphatase 1, regulatory subunit 12B 199 regulation of muscle contraction|signal transduction cytoplasm enzyme activator activity p.A199V(1) central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(75;0.166) TTGCAGGATGCCCGCCAGTGG 0.522000 7 1110 0 0 1 0 0 GPR50 9248 broad.mit.edu 37 X 150348992 150348992 + Missense_Mutation SNP C C T TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chrX:150348992C>T ENST00000218316.3 + 2 1006 c.937C>T c.(937-939)Cgg>Tgg p.R313W NM_004224.3 NP_004215.2 Q13585 MTR1L_HUMAN G protein-coupled receptor 50 313 cell-cell signaling integral to plasma membrane melatonin receptor activity breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 38 Acute lymphoblastic leukemia(192;6.56e-05) CCATGCTATGCGGCACCCTAT 0.542000 8 960 0 0 1 0 0 U2AF2 11338 broad.mit.edu 37 19 56171880 56171880 + Splice_Site SNP A A C TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr19:56171880A>C ENST00000450554.2 + 4 1189 c.e4-1 U2AF2_ENST00000308924.4_Splice_Site NM_001012478.1|NM_007279.2 NP_001012496.1|NP_009210.1 P26368 U2AF2_HUMAN U2 small nuclear RNA auxiliary factor 2 mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription nucleoplasm|spliceosomal complex enzyme binding|nucleotide binding|RNA binding p.?(2) biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2) 21 Colorectal(82;0.00244)|Ovarian(87;0.133) BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.107) CACCTCCCCCAGTCGTTCCCC 0.637000 13 94 0 0 1 0 0 SLC35G5 83650 broad.mit.edu 37 8 11189433 11189433 + Missense_Mutation SNP C C T TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr8:11189433C>T ENST00000382435.4 + 1 1037 c.818C>T c.(817-819)gCg>gTg p.A273V NM_054028.1 NP_473369.1 Q96KT7 AMCL2_HUMAN solute carrier family 35, member G5 273 DUF6 2. integral to membrane GTGGGCTATGCGGTCACCAAG 0.592000 6 799 0 0 1 0 0 CELSR2 1952 broad.mit.edu 37 1 109807082 109807082 + Missense_Mutation SNP C C T TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr1:109807082C>T ENST00000271332.3 + 11 5357 c.5296C>T c.(5296-5298)Cgg>Tgg p.R1766W NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 1766 Laminin G-like 2. dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) CCAGGGTGTGCGGGTGAGCGA 0.652000 5 317 0 0 1 0 0 RGPD8 727851 broad.mit.edu 37 2 113127775 113127775 + Missense_Mutation SNP G G C TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr2:113127775G>C ENST00000302558.3 - 23 5469 c.5278C>G c.(5278-5280)Cct>Gct p.P1760A RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A NM_001164463.1 NP_001157935.1 RANBP2-like and GRIP domain containing 8 p.P1760A(12) endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1) 10 GAACGGGAAGGATTTTCTTCC 0.308000 6 297 0 0 1 0 0 WDR83OS 51398 broad.mit.edu 37 19 12779957 12779957 + Silent SNP G G A TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr19:12779957G>A ENST00000596731.1 - 2 2093 c.141C>T c.(139-141)tgC>tgT p.C47C WDR83OS_ENST00000222190.5_Silent_p.C47C|CTD-2192J16.24_ENST00000597961.1_Silent_p.C45C|WDR83_ENST00000418543.3_Intron NM_016145.3 NP_057229.1 Q9Y284 CS056_HUMAN WD repeat domain 83 opposite strand 47 integral to membrane GCATGAGGCCGCACATGCTGA 0.612000 6 404 0 0 1 0 0 GPR42 2866 broad.mit.edu 37 19 35862940 35862940 + Missense_Mutation SNP G G T rs117214673 by1000genomes TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr19:35862940G>T ENST00000454971.1 + 2 880 c.679G>T c.(679-681)Gtg>Ttg p.V227L GPR42_ENST00000597214.1_Missense_Mutation_p.V227L G protein-coupled receptor 42 (gene/pseudogene) endometrium(1)|kidney(1)|skin(2) 4 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221) GGCGGGGCTGGTGGCGGCCAC 0.637000 5 201 0.217242 0.218442 1 1 0 POLR3B 55703 broad.mit.edu 37 12 106820980 106820980 + Missense_Mutation SNP A A T TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr12:106820980A>T ENST00000228347.4 + 13 1329 c.1107A>T c.(1105-1107)ttA>ttT p.L369F POLR3B_ENST00000539066.1_Missense_Mutation_p.L311F|POLR3B_ENST00000549195.1_3'UTR NM_018082.5 NP_060552.4 Q9NW08 RPC2_HUMAN polymerase (RNA) III (DNA directed) polypeptide B 369 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2) 57 TTTAGCTTTTATCTCTTCTTT 0.269000 11 75 0 0 1 0 0 TXNDC2 0 broad.mit.edu 37 18 9887074 9887074 + Missense_Mutation SNP G G A TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr18:9887074G>A ENST00000306084.6 + 2 797 c.598G>A c.(598-600)Gaa>Aaa p.E200K TXNDC2_ENST00000536353.2_Intron|TXNDC2_ENST00000357775.4_Missense_Mutation_p.E133K NM_001098529.1 NP_001091999.1 Q86VQ3 TXND2_HUMAN thioredoxin domain containing 2 (spermatozoa) 200 22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31 GTCCTCAGAAGAAGCCATCCA 0.577000 6 758 0 0 1 0 0 FBXW2 0 broad.mit.edu 37 9 123527025 123527025 + Missense_Mutation SNP G G A TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr9:123527025G>A ENST00000373926.3 - 8 1364 c.1177C>T c.(1177-1179)Cgg>Tgg p.R393W FBXW2_ENST00000340778.5_Missense_Mutation_p.R328W|FBXW2_ENST00000493559.1_Intron NM_012164.3 NP_036296.2 Q9UKT8 FBXW2_HUMAN F-box and WD repeat domain containing 2 393 proteolysis protein binding|ubiquitin-protein ligase activity ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 4 CTCTCTGTCCGCAAGTCCATG 0.517000 5 514 0 0 1 0 0 SUPT6H 6830 broad.mit.edu 37 17 27027990 27027990 + Missense_Mutation SNP C C T TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr17:27027990C>T ENST00000314616.6 + 36 5121 c.4838C>T c.(4837-4839)gCc>gTc p.A1613V SUPT6H_ENST00000347486.4_Missense_Mutation_p.A1613V NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 1613 chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) CAGCCAGTGGCCACACCACTA 0.587000 7 1170 0 0 1 0 0 RP11-146E13.4 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A A G TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr14:19857036A>G ENST00000548109.1 + 0 72 CTGGATAATAAAGTTCATCTC 0.373000 6 605 0 0 1 0 0 NPHP4 261734 broad.mit.edu 37 1 5923425 5923425 + Missense_Mutation SNP G G A TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr1:5923425G>A ENST00000378156.4 - 30 4446 c.4181C>T c.(4180-4182)gCg>gTg p.A1394V NPHP4_ENST00000478423.2_5'UTR NM_015102.3 NP_055917.1 O75161 NPHP4_HUMAN nephronophthisis 4 1394 actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior cell-cell junction|centrosome|cilium|microtubule basal body protein binding|structural molecule activity NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4) 47 Ovarian(185;0.0634) all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213) Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649) CTGACTAGGCGCAAACTGCAA 0.542000 6 658 0 0 1 0 0 BNIPL 149428 broad.mit.edu 37 1 151011320 151011320 + Missense_Mutation SNP G G A TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr1:151011320G>A ENST00000295294.7 + 4 614 c.5G>A c.(4-6)cGc>cAc p.R2H BNIPL_ENST00000368931.3_Missense_Mutation_p.R84H NM_001159642.1 NP_001153114.1 Q7Z465 BNIPL_HUMAN BCL2/adenovirus E1B 19kD interacting protein like 84 apoptosis|induction of apoptosis|negative regulation of cell proliferation|regulation of growth rate cytosol|nucleus identical protein binding autonomic_ganglia(1)|endometrium(3)|large_intestine(1)|lung(4)|skin(1) 10 Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) CGCCCCATGCGCAAGCGTCTT 0.587000 5 424 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72821615 72821615 + Silent SNP G G A TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr16:72821615G>A ENST00000268489.5 - 10 11232 c.10560C>T c.(10558-10560)ggC>ggT p.G3520G ZFHX3_ENST00000397992.5_Silent_p.G2606G|AC004943.1_ENST00000584072.1_RNA NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3520 Poly-Gly. muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) cgccgccgccgccaccgccgc 0.706000 7 184 0 0 1 0 0 FAM43B 163933 broad.mit.edu 37 1 20879636 20879636 + Missense_Mutation SNP G G A TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr1:20879636G>A ENST00000332947.4 + 1 705 c.170G>A c.(169-171)cGc>cAc p.R57H NM_207334.2 NP_997217.1 Q6ZT52 FA43B_HUMAN family with sequence similarity 43, member B 57 large_intestine(1)|lung(2) 3 Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00979)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000132)|Kidney(64;0.00016)|GBM - Glioblastoma multiforme(114;0.000399)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.195) CGTGTGTTCCGCAGCCGGCGC 0.692000 5 181 0 0 1 0 0 PCDHA11 0 broad.mit.edu 37 5 140250375 140250375 + Missense_Mutation SNP G G A TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr5:140250375G>A ENST00000398640.2 + 1 1687 c.1687G>A c.(1687-1689)Gca>Aca p.A563T PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron NM_018902.3 NP_061725.1 breast(1)|lung(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAACGCGCCGGCACTGCTGGC 0.682000 6 909 0 0 1 0 0 COL9A1 1297 broad.mit.edu 37 6 71012702 71012702 + Translation_Start_Site SNP C C T TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr6:71012702C>T ENST00000357250.6 - 0 84 COL9A1_ENST00000370496.3_De_novo_Start_InFrame NM_001851.4 NP_001842.3 P20849 CO9A1_HUMAN collagen, type IX, alpha 1 axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4) 80 TGTCCCCTCACGACCCCTTCA 0.522000 7 238 0 0 1 0 0 TOMM40L 84134 broad.mit.edu 37 1 161198845 161198845 + Missense_Mutation SNP G G A TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr1:161198845G>A ENST00000367988.3 + 10 1156 c.887G>A c.(886-888)cGc>cAc p.R296H TOMM40L_ENST00000367987.1_Missense_Mutation_p.R296H|TOMM40L_ENST00000474486.1_3'UTR|TOMM40L_ENST00000545897.1_Missense_Mutation_p.R262H NM_032174.4 NP_115550.2 Q969M1 TM40L_HUMAN translocase of outer mitochondrial membrane 40 homolog (yeast)-like 296 Required for mitochondrial targeting (By similarity). protein transport mitochondrial outer membrane|pore complex porin activity|voltage-gated anion channel activity large_intestine(2)|liver(4)|lung(4) 10 all_cancers(52;1.86e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) AATCACTGGCGCAACAGATTC 0.582000 6 561 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9010971 9010971 + Splice_Site SNP T T A TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr19:9010971T>A ENST00000397910.4 - 37 39150 c.38947_splice c.e37+1 p.T12983_splice NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12985 cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GAATACTCACTGCTGGTGGGG 0.517000 6 631 0 0 1 0 0 VSX1 30813 broad.mit.edu 37 20 25056996 25056996 + Silent SNP C C T TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr20:25056996C>T ENST00000376709.4 - 5 1262 c.999G>A c.(997-999)cgG>cgA p.R333R VSX1_ENST00000451258.1_Intron|VSX1_ENST00000444511.2_Intron|VSX1_ENST00000424574.1_Intron|VSX1_ENST00000429762.3_Intron NM_014588.5 NP_055403.2 Q9NZR4 VSX1_HUMAN visual system homeobox 1 333 response to stimulus|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(3)|lung(2) 6 TGGTCTCCTGCCGGGCAGAGC 0.592000 5 363 0 0 1 0 0 ZNF799 90576 broad.mit.edu 37 19 12501446 12501446 + Missense_Mutation SNP T T C TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr19:12501446T>C ENST00000419318.1 - 4 2419 c.1670A>G c.(1669-1671)gAa>gGa p.E557G CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Missense_Mutation_p.E589G Q96GE5 ZN799_HUMAN zinc finger protein 799 589 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2) 19 TTCCTTACATTCATACGGGTT 0.413000 5 320 0 0 1 0 0 KRT20 54474 broad.mit.edu 37 17 39041356 39041356 + Missense_Mutation SNP G G A TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr17:39041356G>A ENST00000167588.3 - 1 123 c.82C>T c.(82-84)Cgc>Tgc p.R28C NM_019010.2 NP_061883.1 P35900 K1C20_HUMAN keratin 20 28 Head. apoptosis|intermediate filament organization Golgi apparatus|intermediate filament protein binding|structural constituent of cytoskeleton NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1) 14 Breast(137;0.000301)|Ovarian(249;0.15) GTCCCGAGGCGCTGCATGCCC 0.597000 6 269 0 0 1 0 0 MMAA 166785 broad.mit.edu 37 4 146563588 146563588 + Silent SNP G G A TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr4:146563588G>A ENST00000281317.5 + 3 1723 c.513G>A c.(511-513)ggG>ggA p.G171G MMAA_ENST00000541599.1_5'UTR|RP11-557J10.4_ENST00000504555.1_RNA NM_172250.2 NP_758454.1 Q8IVH4 MMAA_HUMAN methylmalonic aciduria (cobalamin deficiency) cblA type 171 mitochondrion GTP binding|nucleoside-triphosphatase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1) 17 all_hematologic(180;0.151) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CTGAGAGAGGGCACAAATTAT 0.428000 9 976 0 0 1 0 0 PHKA2 5256 broad.mit.edu 37 X 18929061 18929061 + Missense_Mutation SNP G G A TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chrX:18929061G>A ENST00000379942.4 - 20 2820 c.2155C>T c.(2155-2157)Ccg>Tcg p.P719S NM_000292.2 NP_000283.1 P46019 KPB2_HUMAN phosphorylase kinase, alpha 2 (liver) 719 glucose metabolic process|glycogen catabolic process cytosol|phosphorylase kinase complex|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Hepatocellular(33;0.183) ACTTTAGTCGGCAAAGTCATG 0.363000 6 620 0 0 1 0 0 WDR60 55112 broad.mit.edu 37 7 158672580 158672580 + Missense_Mutation SNP G G A TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr7:158672580G>A ENST00000407559.3 + 5 937 c.779G>A c.(778-780)cGa>cAa p.R260Q NM_018051.4 NP_060521.4 Q8WVS4 WDR60_HUMAN WD repeat domain 60 260 NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2) 35 Ovarian(565;0.152) all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18) AAAGAAAAGCGACACAAAGAA 0.398000 5 225 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140994960 140994960 + Silent SNP G G A TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chrX:140994960G>A ENST00000285879.4 + 4 2056 c.1770G>A c.(1768-1770)ctG>ctA p.L590L MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 590 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) AGGACTCCCTGTCTCCTCACT 0.567000 HNSCC(15;0.026) 12 2217 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276959 186276959 + Missense_Mutation SNP A A G TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr1:186276959A>G ENST00000445192.2 + 7 2153 c.2108A>G c.(2107-2109)gAg>gGg p.E703G PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.E662G|PRG4_ENST00000367486.3_Missense_Mutation_p.E660G|PRG4_ENST00000367485.4_Missense_Mutation_p.E610G NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 703 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 ACCCCTAAGGAGACTGCTCCA 0.592000 6 670 0 0 1 0 0 UBB 7314 broad.mit.edu 37 17 16285497 16285497 + Silent SNP A A G TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr17:16285497A>G ENST00000302182.3 + 2 668 c.276A>G c.(274-276)gaA>gaG p.E92E RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000535788.1_Intron|UBB_ENST00000395837.1_Silent_p.E92E|UBB_ENST00000395839.1_Silent_p.E92E|UBB_ENST00000578649.1_Intron NM_018955.2 NP_061828.1 P0CG47 UBB_HUMAN ubiquitin B 92 Ubiquitin-like 2. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding p.E92E(2) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822) TCACCCTGGAAGTGGAGCCCA 0.557000 6 423 0 0 1 0 0 CRHR1 1394 broad.mit.edu 37 17 43906638 43906638 + Missense_Mutation SNP A A G TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr17:43906638A>G ENST00000314537.5 + 5 610 c.385A>G c.(385-387)Atc>Gtc p.I129V CRHR1_ENST00000293493.7_5'UTR|CRHR1_ENST00000577353.1_Missense_Mutation_p.I129V|CRHR1_ENST00000352855.5_Missense_Mutation_p.I89V|CRHR1_ENST00000339069.5_Missense_Mutation_p.I28V|CRHR1_ENST00000398285.3_Missense_Mutation_p.I129V NM_001145147.1|NM_001145148.1|NM_004382.4 NP_001138619.1|NP_001138620.1|NP_004373.2 P34998 CRFR1_HUMAN corticotropin releasing hormone receptor 1 129 female pregnancy|immune response|parturition integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1) 24 Colorectal(2;0.0416) BRCA - Breast invasive adenocarcinoma(366;0.161) GGGCCACTGTATCTCCCTGGT 0.577000 4 207 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414379 20414379 + Silent SNP G G A TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr9:20414379G>A ENST00000380338.4 - 5 751 c.465C>T c.(463-465)agC>agT p.S155S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S152S|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 155 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S155S(4) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctactgctgctgctgc 0.532000 T MLL ALL 6 250 0 0 1 0 0 KIAA1549 57670 broad.mit.edu 37 7 138524998 138524998 + Silent SNP C C T TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr7:138524998C>T ENST00000440172.1 - 19 5526 c.5478G>A c.(5476-5478)caG>caA p.Q1826Q KIAA1549_ENST00000242365.4_Silent_p.Q1776Q|KIAA1549_ENST00000422774.1_Silent_p.Q1826Q NM_001164665.1|NM_020910.2 NP_001158137.1|NP_065961.2 Q9HCM3 K1549_HUMAN KIAA1549 1826 integral to membrane KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 CAATCCCCACCTGTGTCAGGT 0.597000 O BRAF pilocytic astrocytoma 4 54 0 0 1 0 0 CCDC13 152206 broad.mit.edu 37 3 42784422 42784422 + Missense_Mutation SNP C C T TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr3:42784422C>T ENST00000310232.6 - 8 1036 c.953G>A c.(952-954)cGc>cAc p.R318H CCDC13-AS1_ENST00000418161.1_RNA|CCDC13-AS1_ENST00000446950.1_RNA NM_144719.3 NP_653320.3 Q8IYE1 CCD13_HUMAN coiled-coil domain containing 13 318 endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1) 25 TTCCAGGCTGCGGATCCTCAG 0.577000 6 884 0 0 1 0 0 PRDM5 11107 broad.mit.edu 37 4 121843684 121843684 + Missense_Mutation SNP C C T TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr4:121843684C>T ENST00000264808.3 - 1 320 c.80G>A c.(79-81)cGc>cAc p.R27H PRDM5_ENST00000428209.2_Missense_Mutation_p.R27H|PRDM5_ENST00000394435.2_Missense_Mutation_p.R27H|PRDM5_ENST00000515109.1_Missense_Mutation_p.R27H NM_018699.2 NP_061169.2 Q9NQX1 PRDM5_HUMAN PR domain containing 5 27 SET. histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 TCGCACTCTGCGGGCCGTGTA 0.746000 4 132 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664056 22664056 + RNA SNP T T C rs3178309 TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr22:22664056T>C ENST00000426066.1 + 0 623 NR_027293.1 ATAAAGTATATGATTTTGTGT 0.348000 5 177 0 0 1 0 0 GGNBP2 79893 broad.mit.edu 37 17 34913131 34913131 + Missense_Mutation SNP G G A TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr17:34913131G>A ENST00000304718.4 + 4 699 c.383G>A c.(382-384)tGc>tAc p.C128Y NM_024835.3 NP_079111.1 Q9H3C7 GGNB2_HUMAN gametogenetin binding protein 2 128 cell differentiation|multicellular organismal development|spermatogenesis cytoplasmic membrane-bounded vesicle breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1) 38 Breast(25;0.00957)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0193) ACTAGAAGCTGCATGACTGAT 0.403000 5 329 0 0 1 0 0 NARFL 64428 broad.mit.edu 37 16 780576 780576 + Silent SNP G G A TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr16:780576G>A ENST00000540986.1 - 10 2401 c.966C>T c.(964-966)taC>taT p.Y322Y NARFL_ENST00000251588.2_Silent_p.Y424Y|NARFL_ENST00000568545.1_Silent_p.Y322Y|NARFL_ENST00000562862.1_5'UTR Q9H6Q4 NARFL_HUMAN nuclear prelamin A recognition factor-like 424 iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia 4 iron, 4 sulfur cluster binding|metal ion binding autonomic_ganglia(1)|large_intestine(1)|lung(7) 9 Hepatocellular(780;0.0218) GGACCATGCCGTACAGTCTCT 0.682000 5 480 0 0 1 0 0 PLXNC1 10154 broad.mit.edu 37 12 94676176 94676176 + Splice_Site SNP A A G TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr12:94676176A>G ENST00000258526.4 + 23 4127 c.3879_splice c.e23+1 p.E1293_splice PLXNC1_ENST00000547057.1_Splice_Site_p.E340_splice|RP11-1105G2.3_ENST00000547927.1_Intron|PLXNC1_ENST00000545312.1_Splice_Site_p.E32_splice NM_005761.2 NP_005752.1 O60486 PLXC1_HUMAN plexin C1 1293 axon guidance|cell adhesion integral to membrane|intracellular|plasma membrane receptor activity|receptor binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 GGCCACTATGAGGTAAGAGCA 0.478000 4 257 0 0 1 0 0 UGT2B28 54490 broad.mit.edu 37 4 70152481 70152481 + Silent SNP A A G rs141618560 TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr4:70152481A>G ENST00000335568.5 + 3 884 c.882A>G c.(880-882)gaA>gaG p.E294E UGT2B28_ENST00000511240.1_Silent_p.E294E NM_053039.1 NP_444267.1 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B28 294 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity p.E294E(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 Flunitrazepam(DB01544) AAATGGAGGAATTTGTACAGA 0.393000 5 710 0 0 1 0 0 ZNF83 55769 broad.mit.edu 37 19 53116885 53116885 + Silent SNP A A G rs7247257 TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr19:53116885A>G ENST00000597597.1 - 2 3186 c.933T>C c.(931-933)caT>caC p.H311H ZNF83_ENST00000541777.2_Silent_p.H311H|ZNF83_ENST00000391789.4_Silent_p.H283H|ZNF83_ENST00000545872.1_Silent_p.H311H|ZNF83_ENST00000536937.1_Silent_p.H311H|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000301096.3_Silent_p.H311H|ZNF83_ENST00000544146.1_Silent_p.H311H P51522 ZNF83_HUMAN zinc finger protein 83 311 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 18 OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244) TCTCTCCAGTATGAATTCTCC 0.418000 6 563 0 0 1 0 0 TXNDC2 0 broad.mit.edu 37 18 9887625 9887625 + Silent SNP G G A TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr18:9887625G>A ENST00000306084.6 + 2 1348 c.1149G>A c.(1147-1149)caG>caA p.Q383Q TXNDC2_ENST00000536353.2_3'UTR|TXNDC2_ENST00000357775.4_Silent_p.Q316Q NM_001098529.1 NP_001091999.1 Q86VQ3 TXND2_HUMAN thioredoxin domain containing 2 (spermatozoa) 383 22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31 AAGCCATCCAGCCCAAGGAGG 0.557000 6 578 0 0 1 0 0 UNC5B 219699 broad.mit.edu 37 10 73050693 73050693 + Missense_Mutation SNP C C T TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr10:73050693C>T ENST00000335350.6 + 9 1537 c.1121C>T c.(1120-1122)gCg>gTg p.A374V UNC5B_ENST00000373192.4_Missense_Mutation_p.A363V NM_170744.4 NP_734465.2 Q8IZJ1 UNC5B_HUMAN unc-5 homolog B (C. elegans) 374 apoptosis|axon guidance|regulation of apoptosis integral to membrane p.A374V(1) breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4) 49 TCAGGGGATGCGGCGCTGTAT 0.667000 7 1109 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625885 29625885 + Missense_Mutation SNP A A T TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr20:29625885A>T ENST00000278882.3 + 5 509 c.129A>T c.(127-129)aaA>aaT p.K43N FRG1B_ENST00000358464.4_Missense_Mutation_p.K43N|FRG1B_ENST00000439954.2_Missense_Mutation_p.K48N p.K43N(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TCGCCCTGAAATCTGGCTATG 0.353000 7 524 0 0 1 0 0 NACA 4666 broad.mit.edu 37 12 57111705 57111705 + Silent SNP G G A rs2926746 TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr12:57111705G>A ENST00000454682.1 - 3 3890 c.3609C>T c.(3607-3609)ccC>ccT p.P1203P NACA_ENST00000552540.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000551793.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 CTTTTGGGGAGGGAGGAGTTG 0.642000 T BCL6 NHL 8 966 0 0 1 0 0 RTN2 6253 broad.mit.edu 37 19 45996481 45996481 + Missense_Mutation SNP C C T TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr19:45996481C>T ENST00000590526.1 - 5 1274 c.148G>A c.(148-150)Gca>Aca p.A50T RTN2_ENST00000344680.4_Intron|RTN2_ENST00000430715.2_5'UTR|RTN2_ENST00000245923.4_Missense_Mutation_p.A324T|PPM1N_ENST00000401705.1_Intron O75298 RTN2_HUMAN reticulon 2 324 integral to endoplasmic reticulum membrane signal transducer activity cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1) 20 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246) GGGGATTTTGCCCACTTCAGT 0.617000 8 977 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11058168 11058168 + RNA SNP A A T TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr21:11058168A>T ENST00000470054.1 - 0 479 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) TACATCTTTCAGGAGCTTGGT 0.388000 9 526 0 0 1 0 0 PCNT 5116 broad.mit.edu 37 21 47754463 47754463 + Silent SNP A A G TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr21:47754463A>G ENST00000359568.5 + 3 527 c.420A>G c.(418-420)ccA>ccG p.P140P PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 140 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding p.P140P(1) NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) ACCACCCACCAGAACAGCGTG 0.542000 5 291 0 0 1 0 0 LTBP4 8425 broad.mit.edu 37 19 41133748 41133748 + Missense_Mutation SNP G G A TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr19:41133748G>A ENST00000308370.7 + 33 4703 c.4703G>A c.(4702-4704)cGc>cAc p.R1568H LTBP4_ENST00000204005.9_Missense_Mutation_p.R1531H|LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000545697.1_3'UTR|LTBP4_ENST00000396819.3_Missense_Mutation_p.R1501H|LTBP4_ENST00000602240.1_3'UTR NM_001042544.1 NP_001036009.1 Q8N2S1 LTBP4_HUMAN latent transforming growth factor beta binding protein 4 1569 EGF-like 15. growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity central_nervous_system(1) 1 Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384) GACATGACCCGCATGGCCTGC 0.701000 3 42 0 0 1 0 0 OTUD4 54726 broad.mit.edu 37 4 146059006 146059006 + Missense_Mutation SNP G G A TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr4:146059006G>A ENST00000454497.2 - 21 2863 c.2726C>T c.(2725-2727)aCt>aTt p.T909I OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Missense_Mutation_p.T974I NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 973 protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) AACAGGCACAGTTTCTCTCTC 0.463000 6 790 0 0 1 0 0 CHEK2P2 0 broad.mit.edu 37 15 20489434 20489434 + RNA SNP C C T TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr15:20489434C>T ENST00000555186.1 + 0 422 NR_038836.1 CACTGAAGGACCAGATCACCA 0.413000 6 488 0 0 1 0 0 LAMB3 3914 broad.mit.edu 37 1 209790792 209790792 + Missense_Mutation SNP G G A TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr1:209790792G>A ENST00000391911.1 - 20 3580 c.3191C>T c.(3190-3192)gCg>gTg p.A1064V LAMB3_ENST00000356082.4_Missense_Mutation_p.A1064V|LAMB3_ENST00000367030.3_Missense_Mutation_p.A1064V NM_001017402.1 NP_001017402.1 Q13751 LAMB3_HUMAN laminin, beta 3 1064 Domain I. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 OV - Ovarian serous cystadenocarcinoma(81;0.0519) GGCACCTTCCGCAAGCTGCTG 0.627000 5 511 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140995016 140995016 + Missense_Mutation SNP T T A TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chrX:140995016T>A ENST00000285879.4 + 4 2112 c.1826T>A c.(1825-1827)cTc>cAc p.L609H MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 609 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) ATGTCTCCTCTCTACTTTCCT 0.572000 HNSCC(15;0.026) 12 1803 0 0 1 0 0 PFKFB1 5207 broad.mit.edu 37 X 54978521 54978521 + Silent SNP G G A TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chrX:54978521G>A ENST00000375006.3 - 8 733 c.663C>T c.(661-663)ttC>ttT p.F221F PFKFB1_ENST00000374992.2_Intron|PFKFB1_ENST00000545676.1_Silent_p.F156F NM_002625.2 NP_002616.2 P16118 F261_HUMAN 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 221 6-phosphofructo-2-kinase. energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1) 24 TGCCCACGTCGAAGATCTTGA 0.567000 4 205 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 39009888 39009888 + Silent SNP G G A TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr19:39009888G>A ENST00000355481.4 + 67 10184 c.10053G>A c.(10051-10053)ccG>ccA p.P3351P RYR1_ENST00000359596.3_Silent_p.P3351P|RYR1_ENST00000360985.3_Silent_p.P3351P NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 3351 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) GTGCACGGCCGGAGCTCCTGC 0.662000 5 523 0 0 1 0 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39261693 39261693 + Missense_Mutation SNP A A T rs113059833 by1000genomes TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr17:39261693A>T ENST00000391415.1 + 1 110 c.53A>T c.(52-54)gAc>gTc p.D18V NM_001146041.1 NP_001139513.1 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 18 keratin filament p.D18V(1) central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3) 14 TGCGGCCAAGACCTCTGTCAG 0.627000 20 187 0 0 1 0 0 RGPD3 653489 broad.mit.edu 37 2 107049681 107049681 + Missense_Mutation SNP T T C TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr2:107049681T>C ENST00000409886.3 - 16 2353 c.2266A>G c.(2266-2268)Aac>Gac p.N756D RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 756 intracellular transport binding p.N756D(6) breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 TCACTATAGTTTTCGAGTTCC 0.373000 9 1535 0 0 1 0 0 ZNF611 81856 broad.mit.edu 37 19 53208665 53208665 + Missense_Mutation SNP G G A TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr19:53208665G>A ENST00000543227.1 - 6 1917 c.1643C>T c.(1642-1644)gCg>gTg p.A548V ZNF611_ENST00000595798.1_Missense_Mutation_p.A479V|ZNF611_ENST00000319783.1_Missense_Mutation_p.A548V|ZNF611_ENST00000453741.2_Missense_Mutation_p.A479V|ZNF611_ENST00000540744.1_Missense_Mutation_p.A548V|ZNF611_ENST00000602162.1_Missense_Mutation_p.A479V NM_001161499.1 NP_001154971.1 Q8N823 ZN611_HUMAN zinc finger protein 611 548 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04) GGAATGACACGCAAAAGCCTT 0.398000 6 947 0 0 1 0 0 BRCA2 675 broad.mit.edu 37 13 32912028 32912028 + Missense_Mutation SNP G G A TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr13:32912028G>A ENST00000544455.1 + 11 3763 c.3536G>A c.(3535-3537)aGc>aAc p.S1179N BRCA2_ENST00000380152.3_Missense_Mutation_p.S1179N NM_000059.3 NP_000050.2 P51587 BRCA2_HUMAN breast cancer 2, early onset 1179 S -> N (in BC). cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) GTAGACAGCAGCAAGCAATTT 0.388000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 6 476 0 0 1 0 0 ME3 10873 broad.mit.edu 37 11 86209141 86209141 + Missense_Mutation SNP C C T TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr11:86209141C>T ENST00000543262.1 - 6 895 c.569G>A c.(568-570)cGc>cAc p.R190H ME3_ENST00000393324.3_Missense_Mutation_p.R190H|ME3_ENST00000525957.1_5'UTR|RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000323418.6_Missense_Mutation_p.R128H|ME3_ENST00000359636.2_Missense_Mutation_p.R190H NM_001161586.1 NP_001155058.1 Q16798 MAON_HUMAN malic enzyme 3, NADP(+)-dependent, mitochondrial 190 aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process mitochondrial matrix malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1) 27 Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252) NADH(DB00157) GCCCAGGATGCGCTCCCCATC 0.632000 5 512 0 0 1 0 0 EEF1B2 1933 broad.mit.edu 37 2 207025358 207025358 + Missense_Mutation SNP A A G TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr2:207025358A>G ENST00000392222.2 + 2 502 c.127A>G c.(127-129)Agc>Ggc p.S43G EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G NM_001959.3 NP_001950.1 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 2 43 GST C-terminal. cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity p.S43G(4) breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6) 16 AGCCGTGTCCAGCCCACCGCC 0.468000 6 408 0 0 1 0 0 FLII 2314 broad.mit.edu 37 17 18148568 18148568 + Missense_Mutation SNP G G A TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr17:18148568G>A ENST00000327031.4 - 30 3919 c.3694C>T c.(3694-3696)Cgg>Tgg p.R1232W FLII_ENST00000379450.4_Missense_Mutation_p.R1146W|FLII_ENST00000579294.1_Missense_Mutation_p.R1221W|FLII_ENST00000578558.1_Intron|FLII_ENST00000545457.2_Missense_Mutation_p.R1177W NM_002018.3 NP_002009.1 Q13045 FLII_HUMAN flightless I homolog (Drosophila) 1232 multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleus actin binding central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 all_neural(463;0.228) TCCTTGGACCGCATGTGCTGG 0.657000 6 868 0 0 1 0 0 UBB 7314 broad.mit.edu 37 17 16285788 16285788 + Silent SNP C C T TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr17:16285788C>T ENST00000302182.3 + 2 959 c.567C>T c.(565-567)ccC>ccT p.P189P RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000535788.1_Silent_p.P113P|UBB_ENST00000395837.1_Silent_p.P189P|UBB_ENST00000395839.1_Silent_p.P189P|UBB_ENST00000578649.1_3'UTR NM_018955.2 NP_061828.1 P0CG47 UBB_HUMAN ubiquitin B 189 Ubiquitin-like 3. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding p.P189P(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822) AAGGCATCCCCCCCGACCAGC 0.552000 5 344 0 0 1 0 0 FAM53B 9679 broad.mit.edu 37 10 126384776 126384776 + Silent SNP C C T TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr10:126384776C>T ENST00000337318.3 - 3 295 c.84G>A c.(82-84)acG>acA p.T28T RP11-12J10.3_ENST00000494792.1_3'UTR|FAM53B_ENST00000280780.6_Silent_p.T28T|FAM53B_ENST00000392754.3_Silent_p.T28T NM_014661.3 NP_055476.3 Q14153 FA53B_HUMAN family with sequence similarity 53, member B 28 cervix(1)|lung(5)|ovary(2)|pancreas(1) 9 all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15) TCTTCTTTGGCGTGTGCTGAA 0.438000 5 708 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547138 132547138 + Silent SNP A A G rs35873108 byFrequency TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr12:132547138A>G ENST00000333577.4 + 48 8443 c.8334A>G c.(8332-8334)caA>caG p.Q2778Q EP400_ENST00000332482.4_Silent_p.Q2705Q|EP400_ENST00000389561.2_Silent_p.Q2742Q|EP400_ENST00000389562.2_Silent_p.Q2741Q|EP400_ENST00000330386.6_Silent_p.Q2661Q Q96L91 EP400_HUMAN E1A binding protein p400 2778 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.Q2741Q(3)|p.Q2742Q(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) agcagcagcaacagcagcagc 0.602000 10 320 0 0 1 0 0 CADM1 23705 broad.mit.edu 37 11 115080343 115080343 + Silent SNP G G T TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr11:115080343G>T ENST00000537058.1 - 8 1049 c.1029C>A c.(1027-1029)acC>acA p.T343T CADM1_ENST00000452722.2_Silent_p.T343T|CADM1_ENST00000542447.2_Intron|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000331581.6_Silent_p.T343T|CADM1_ENST00000536727.1_Intron Q9BY67 CADM1_HUMAN cell adhesion molecule 1 343 PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657). adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity basolateral plasma membrane|cell-cell junction|integral to membrane PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding p.T343T(5) cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1) 32 all_hematologic(175;0.0628) all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237) BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303) tggtggtggtggttgttgtgg 0.433000 7 237 0.000157383 0.000161829 1 1 0 C15orf54 400360 broad.mit.edu 37 15 39544396 39544396 + Silent SNP G G A TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr15:39544396G>A ENST00000318578.3 + 2 428 c.60G>A c.(58-60)ccG>ccA p.P20P RP11-624L4.1_ENST00000560484.1_RNA|RP11-624L4.1_ENST00000561058.1_RNA|RP11-624L4.1_ENST00000558209.1_RNA|C15orf54_ENST00000561223.1_Silent_p.P20P NM_207445.2 NP_997328.1 Q8N8G6 CO054_HUMAN chromosome 15 open reading frame 54 20 p.P20P(1) NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2) 5 all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198) GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706) GGGCTGAGCCGCAAAGAATTT 0.468000 6 1094 0 0 1 0 0 PCDHA13 0 broad.mit.edu 37 5 140263026 140263026 + Silent SNP G G A TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr5:140263026G>A ENST00000289272.2 + 1 1173 c.1173G>A c.(1171-1173)ccG>ccA p.P391P PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000409494.1_Silent_p.P391P|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron NM_018904.2|NM_031865.1 NP_061727.1|NP_114071.1 p.P391P(4) NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCTTGACGCCGCATGTCCCCT 0.547000 7 717 0 0 1 0 0 FAM104B 90736 broad.mit.edu 37 X 55172537 55172537 + Nonsense_Mutation SNP G G A rs1047054 by1000genomes TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chrX:55172537G>A ENST00000425133.2 - 3 369 c.331C>T c.(331-333)Cga>Tga p.R111* FAM104B_ENST00000358460.4_Intron|FAM104B_ENST00000489298.1_Nonsense_Mutation_p.R109*|FAM104B_ENST00000477847.2_Nonsense_Mutation_p.R107*|FAM104B_ENST00000332132.4_Intron|FAM104B_ENST00000472571.2_3'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 0 p.R111*(5) endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 8 GCTTGCCCTCGCTGCTGCAGG 0.438000 5 216 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 12 241 0 0 1 0 0 AC024560.3 0 broad.mit.edu 37 3 197348674 197348674 + RNA SNP A A G rs144273946 by1000genomes TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr3:197348674A>G ENST00000418868.1 - 0 585 NR_003266.2 GGCTCTGTCCACCAAATGCAC 0.478000 6 528 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587657 43587657 + RNA SNP C C T rs148404065 by1000genomes TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr17:43587657C>T ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA GGTGACAACACATCTGTTTTA 0.323000 7 499 0 0 1 0 0 SPDYE3 441272 broad.mit.edu 37 7 99913460 99913460 + Silent SNP A A G TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr7:99913460A>G ENST00000332397.6 + 7 1438 c.1254A>G c.(1252-1254)tcA>tcG p.S418S SPDYE3_ENST00000437326.2_Silent_p.S41S NM_001004351.4 NP_001004351.3 A6NKU9 SPDE3_HUMAN speedy/RINGO cell cycle regulator family member E3 418 p.S418S(11) endometrium(10)|kidney(1)|lung(8)|urinary_tract(1) 20 TGAGGGTGTCAGACAAGGTAA 0.522000 9 1240 0 0 1 0 0 SCARNA2 0 broad.mit.edu 37 1 109642858 109642858 + RNA SNP G G A TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr1:109642858G>A ENST00000458748.1 + 0 44 NR_003023.1 TGTTGTGTGCGGAGCTGTGGC 0.667000 4 122 0 0 1 0 0 MUC21 394263 broad.mit.edu 37 6 30955025 30955025 + Missense_Mutation SNP G G A rs55763085 TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr6:30955025G>A ENST00000376296.3 + 2 1314 c.1073G>A c.(1072-1074)aGc>aAc p.S358N MUC21_ENST00000486149.2_5'UTR NM_001010909.2 NP_001010909.2 Q5SSG8 MUC21_HUMAN mucin 21, cell surface associated 358 28 X 15 AA approximate tandem repeats.|Ser-rich. integral to membrane|plasma membrane p.S358N(1) NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 AGTGGGGCCAGCACAGCCACC 0.642000 11 809 0 0 1 0 0 PSG9 5678 broad.mit.edu 37 19 43763169 43763169 + Silent SNP G G A rs2355449 byFrequency TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr19:43763169G>A ENST00000418820.2 - 3 647 c.549C>T c.(547-549)aaC>aaT p.N183N PSG9_ENST00000443718.3_Silent_p.N183N|PSG9_ENST00000244293.7_Intron|PSG9_ENST00000270077.3_Silent_p.N276N|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000593948.1_Intron|PSG9_ENST00000291752.5_Intron Q00887 PSG9_HUMAN pregnancy specific beta-1-glycoprotein 9 183 Ig-like C2-type 1. female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Prostate(69;0.00682) GGCTCTGACCGTTTAGCCACC 0.473000 8 1437 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276405 186276405 + Silent SNP T T C TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr1:186276405T>C ENST00000445192.2 + 7 1599 c.1554T>C c.(1552-1554)acT>acC p.T518T PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Silent_p.T477T|PRG4_ENST00000367486.3_Silent_p.T475T|PRG4_ENST00000367485.4_Silent_p.T425T NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 518 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CACCCACCACTCCCAAGGAGC 0.642000 11 669 0 0 1 0 0 RP11-368J21.3 0 broad.mit.edu 37 16 22588087 22588087 + RNA SNP G G C TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr16:22588087G>C ENST00000550753.1 + 0 2562 NR_003676.2 GTGGGACACCGTTCCCTGGAT 0.522000 5 110 0 0 1 0 0 AGAP10 728127 broad.mit.edu 37 10 47207828 47207828 + Missense_Mutation SNP C C A TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr10:47207828C>A ENST00000355232.3 - 5 3467 c.455G>T c.(454-456)aGc>aTc p.S152I RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000413193.2_Missense_Mutation_p.S223I|AGAP10_ENST00000452145.2_Missense_Mutation_p.S127I ArfGAP with GTPase domain, ankyrin repeat and PH domain 10 p.S223I(4) endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1) 12 TGTACAGTTGCTTCTTCTTAT 0.264000 7 194 0.0692343 0.0700036 1 1 0 TCHH 7062 broad.mit.edu 37 1 152082606 152082606 + Silent SNP T T C TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr1:152082606T>C ENST00000368804.1 - 2 3086 c.3087A>G c.(3085-3087)gaA>gaG p.E1029E NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 1029 10 X 30 AA tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GCTGCTCTTCTTCCTGCTGCA 0.582000 6 775 0 0 1 0 0 KRTAP4-12 83755 broad.mit.edu 37 17 39280087 39280087 + Silent SNP G G A TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr17:39280087G>A ENST00000394014.1 - 1 332 c.288C>T c.(286-288)tgC>tgT p.C96C NM_031854.2 NP_114060.1 Q9BQ66 KR412_HUMAN keratin associated protein 4-12 96 31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC]. keratin filament p.C96C(2) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 13 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) AGGTGGGCTGGCAGCACACAG 0.667000 9 573 0 0 1 0 0 PTPRB 0 broad.mit.edu 37 12 70946613 70946613 + Silent SNP G G A TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr12:70946613G>A ENST00000334414.6 - 21 5375 c.5331C>T c.(5329-5331)tgC>tgT p.C1777C PTPRB_ENST00000538708.1_Silent_p.C1469C|PTPRB_ENST00000261266.5_Silent_p.C1559C|PTPRB_ENST00000550857.1_Silent_p.C1469C|PTPRB_ENST00000550358.1_Silent_p.C1689C|PTPRB_ENST00000451516.2_Silent_p.C1469C NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1559 Tyrosine-protein phosphatase. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) GAGTGGGATCGCATTTTCCAC 0.428000 6 291 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 4 208 0 0 1 0 0 PNPLA6 10908 broad.mit.edu 37 19 7615191 7615191 + Missense_Mutation SNP C C T TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr19:7615191C>T ENST00000221249.6 + 18 2136 c.1705C>T c.(1705-1707)Cgc>Tgc p.R569C PNPLA6_ENST00000450331.3_Missense_Mutation_p.R569C|PNPLA6_ENST00000594864.1_3'UTR|PNPLA6_ENST00000414982.3_Missense_Mutation_p.R617C|PNPLA6_ENST00000600737.1_Missense_Mutation_p.R608C|PNPLA6_ENST00000545201.2_Missense_Mutation_p.R543C NM_006702.4 NP_006693.3 Q8IY17 PLPL6_HUMAN patatin-like phospholipase domain containing 6 608 cell death|lipid catabolic process|phosphatidylcholine metabolic process endoplasmic reticulum membrane|integral to membrane lysophospholipase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1) 35 CAGGATCATGCGCGCACAGCC 0.622000 6 641 0 0 1 0 0 GABRD 2563 broad.mit.edu 37 1 1956774 1956774 + Splice_Site DEL C C - TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr1:1956774delC ENST00000378585.4 + 3 266 c.181_splice c.e3-1 p.G61_splice NM_000815.4 NP_000806.2 O14764 GBRD_HUMAN gamma-aminobutyric acid (GABA) A receptor, delta 61 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity p.V64fs*365(1) central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2) 20 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2) TCCTTGCAGGCCCCCCCGTGA 0.647 7 811 --- --- --- --- DNAJC11 55735 broad.mit.edu 37 1 6727803 6727804 + Frame_Shift_Del DEL TC TC - TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr1:6727803_6727804delTC ENST00000377577.5 - 4 466_467 c.343_344delGA c.(343-345)afs p.E116fs DNAJC11_ENST00000377573.5_Frame_Shift_Del_p.E26fs|DNAJC11_ENST00000542246.1_Frame_Shift_Del_p.E78fs|DNAJC11_ENST00000294401.7_Frame_Shift_Del_p.E116fs|DNAJC11_ENST00000349363.6_Frame_Shift_Del_p.E78fs NM_018198.3 NP_060668.2 Q9NVH1 DJC11_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 11 116 protein folding heat shock protein binding|unfolded protein binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1) 32 Ovarian(185;0.0265)|all_lung(157;0.154) all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649) TCTCCTCTCTTCTCTCTCTCTC 0.505 15 297 --- --- --- --- ADC 113451 broad.mit.edu 37 1 33583674 33583675 + Frame_Shift_Ins INS - - C TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr1:33583674_33583675insC ENST00000294517.6 + 11 1788_1789 c.1201_1202insC c.(1201-1203)ccafs p.P401fs ADC_ENST00000484656.1_3'UTR|ADC_ENST00000373443.3_Frame_Shift_Ins_p.P401fs|ADC_ENST00000398167.1_Frame_Shift_Ins_p.P421fs|ADC_ENST00000373441.1_Frame_Shift_Ins_p.P421fs NM_052998.2 NP_443724.1 Q96A70 ADC_HUMAN arginine decarboxylase 401 polyamine biosynthetic process|spermatogenesis cytosol arginine decarboxylase activity NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2) 11 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837) L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114) CTTTTGGGGGACCCAGGCCTGC 0.624 13 609 --- --- --- --- GPATCH4 54865 broad.mit.edu 37 1 156565503 156565504 + Frame_Shift_Ins INS - - T TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr1:156565503_156565504insT ENST00000368232.4 - 8 746_747 c.614_615insA c.(613-615)aaafs p.K205fs GPATCH4_ENST00000497287.1_5'UTR|GPATCH4_ENST00000438976.2_Frame_Shift_Ins_p.K210fs NM_015590.3|NM_182679.2 NP_056405.2|NP_872620.1 Q5T3I0 GPTC4_HUMAN G patch domain containing 4 205 intracellular nucleic acid binding autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1) 17 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TTTTCTTTTTCTTTTTTTTGGG 0.535 7 542 --- --- --- --- AC016995.3 0 broad.mit.edu 37 2 38710019 38710019 + RNA DEL T T - rs2005502 by1000genomes TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr2:38710019delT ENST00000417039.1 - 0 696 CTTtaaaaaataaataaataa 0.244 8 39 --- --- --- --- NCKAP5 344148 broad.mit.edu 37 2 133541084 133541084 + Frame_Shift_Del DEL G G - TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr2:133541084delG ENST00000409261.1 - 14 3673 c.3300delC c.(3298-3300)ccfs p.P1100fs NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Frame_Shift_Del_p.P1100fs NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 1100 Ser-rich. protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 AGGAAGGCTTGGGGGGTGTGG 0.502 7 1686 --- --- --- --- PLA2R1 0 broad.mit.edu 37 2 160801441 160801442 + Frame_Shift_Ins INS - - T TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr2:160801441_160801442insT ENST00000283243.7 - 28 4325_4326 c.4119_4120insA c.(4117-4122)aagcttfs p.L1374fs PLA2R1_ENST00000460710.1_5'UTR NM_001195641.1|NM_007366.4 NP_001182570.1|NP_031392.3 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1, 180kDa 1374 C-type lectin 8. endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 CATATAAAGCCTTTTTTTTCTT 0.401 9 805 --- --- --- --- HIBCH 26275 broad.mit.edu 37 2 191161629 191161629 + Frame_Shift_Del DEL T T - TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr2:191161629delT ENST00000392332.3 - 3 268 c.129delA c.(127-129)aafs p.K43fs HIBCH_ENST00000359678.5_Frame_Shift_Del_p.K43fs Q6NVY1 HIBCH_HUMAN 3-hydroxyisobutyryl-CoA hydrolase 43 branched chain family amino acid catabolic process mitochondrial matrix 3-hydroxyisobutyryl-CoA hydrolase activity|protein binding NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814) CCGTGCAACCTTTTTTTTCCA 0.353 10 268 --- --- --- --- SETD2 29072 broad.mit.edu 37 3 47103755 47103756 + Frame_Shift_Del DEL TC TC - TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr3:47103755_47103756delTC ENST00000409792.3 - 14 6232_6233 c.6190_6191delGA c.(6190-6192)cfs p.D2064fs SETD2_ENST00000492397.1_5'UTR NM_014159.6 NP_054878.5 Q9BYW2 SETD2_HUMAN SET domain containing 2 2064 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5) 141 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) CTTGTCTGGGTCTCTCTCTCTT 0.485 """N, F, S, Mis""" clear cell renal carcinoma 8 1528 --- --- --- --- TREX1 11277 broad.mit.edu 37 3 48508192 48508192 + Frame_Shift_Del DEL C C - TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr3:48508192delC ENST00000296443.9 + 3 1025 c.138delC c.(136-138)agfs p.S46fs TREX1_ENST00000492235.1_3'UTR|TREX1_ENST00000444177.1_Frame_Shift_Del_p.S36fs|TREX1_ENST00000436480.2_Frame_Shift_Del_p.S46fs|TREX1_ENST00000433541.1_5'UTR|TREX1_ENST00000422277.2_Frame_Shift_Del_p.S101fs|TREX1_ENST00000456089.1_Intron Q9NSU2 TREX1_HUMAN three prime repair exonuclease 1 101 cell death|DNA recombination|DNA replication|mismatch repair nuclear envelope 3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|metal ion binding|MutLalpha complex binding|MutSalpha complex binding|protein homodimerization activity|single-stranded DNA binding breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3) 9 BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) CCCTGGAGAGCCCCCCCACCT 0.647 8 935 --- --- --- --- GPX1 2876 broad.mit.edu 37 3 49395674 49395676 + In_Frame_Del DEL GCC GCC - rs56041243 TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr3:49395674_49395676delGCC ENST00000419783.1 - 1 357_359 c.36_38delGGC c.(34-39)gcc>gc p.AA12del GPX1_ENST00000419349.1_In_Frame_Del_p.AA12del|GPX1_ENST00000496791.1_5'UTR NM_000581.2 NP_000572.2 P07203 GPX1_HUMAN glutathione peroxidase 1 12 anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection cytosol|mitochondrion endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding p.A12_A13delAA(1) breast(1)|large_intestine(2)|lung(1) 4 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) Glutathione(DB00143) CACCGACTGGgccgccgccgccg 0.690 10 15 --- --- --- --- OTOP1 133060 broad.mit.edu 37 4 4204225 4204229 + Frame_Shift_Del DEL TTGAG TTGAG - TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr4:4204225_4204229delTTGAG ENST00000296358.4 - 4 700_704 c.676_680delCTCAA c.(676-681)tfs p.LN226fs NM_177998.1 NP_819056.1 Q7RTM1 OTOP1_HUMAN otopetrin 1 226 biomineral tissue development extracellular space|integral to membrane p.L226fs*1(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CTTGTGCTCATTGAGTTGGTGCTTT 0.502 9 603 --- --- --- --- GABRG1 2565 broad.mit.edu 37 4 46060358 46060358 + Frame_Shift_Del DEL A A - TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr4:46060358delA ENST00000295452.4 - 7 959 c.792delT c.(790-792)ttfs p.F264fs NM_173536.3 NP_775807.2 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 1 264 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity p.F264fs*3(1) breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) TGCTCAGGTCAAAAAAAATTG 0.294 7 338 --- --- --- --- HMGB2 3148 broad.mit.edu 37 4 174253277 174253279 + In_Frame_Del DEL TCC TCC - TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr4:174253277_174253279delTCC ENST00000296503.5 - 5 1455_1457 c.582_584delGGA c.(580-585)gaa>ga p.EE196del HMGB2_ENST00000438704.2_In_Frame_Del_p.EE196del|HMGB2_ENST00000446922.2_In_Frame_Del_p.EE196del P26583 HMGB2_HUMAN high mobility group box 2 196 Asp/Glu-rich (acidic). base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding p.E194E(1) endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3) 14 Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122) all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249) atcttcttcttcctcctcctcct 0.468 7 364 --- --- --- --- AC108142.1 0 broad.mit.edu 37 4 182826808 182826809 + RNA INS - - CTATTTAT rs137929912 by1000genomes TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr4:182826808_182826809insCTATTTAT ENST00000509012.1 - 0 378 CATATGATACACTATTTATTTA 0.322 2 4 --- --- --- --- IRX4 50805 broad.mit.edu 37 5 1879669 1879671 + In_Frame_Del DEL CCT CCT - TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr5:1879669_1879671delCCT ENST00000505790.1 - 5 1139_1141 c.683_685delAGG c.(682-687)ggg>g p.EG228del IRX4_ENST00000231357.2_In_Frame_Del_p.EG228del|IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000513692.1_In_Frame_Del_p.EG228del NM_001278634.1 NP_001265563.1 P78413 IRX4_HUMAN iroquois homeobox 4 228 Poly-Glu. heart development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|lung(7)|ovary(1)|prostate(1) 10 GBM - Glioblastoma multiforme(108;0.242) tcctcgcccccctcctcctcctc 0.685 9 243 --- --- --- --- ZFR 51663 broad.mit.edu 37 5 32355893 32355893 + Frame_Shift_Del DEL T T - TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr5:32355893delT ENST00000265069.8 - 20 3300 c.3198delA c.(3196-3198)aafs p.K1066fs ZFR_ENST00000510369.1_5'UTR NM_016107.3 NP_057191.2 Q96KR1 ZFR_HUMAN zinc finger RNA binding protein 1066 multicellular organismal development chromosome|cytoplasm|nucleus DNA binding|RNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2) 32 STAD - Stomach adenocarcinoma(35;0.19) CTTTTTTGTCTTTTTTCCCCT 0.338 7 559 --- --- --- --- MSH3 4437 broad.mit.edu 37 5 79970915 79970915 + Frame_Shift_Del DEL A A - TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr5:79970915delA ENST00000265081.6 + 7 1221 c.1141delA c.(1141-1143)aafs p.K383fs NM_002439.4 NP_002430.3 P20585 MSH3_HUMAN mutS homolog 3 383 maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244) OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33) TGTTAGGGACAAAAAAAAGGG 0.348 Mismatch excision repair (MMR) 9 845 --- --- --- --- SRFBP1 153443 broad.mit.edu 37 5 121356129 121356130 + Frame_Shift_Ins INS - - A TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr5:121356129_121356130insA ENST00000339397.4 + 6 771_772 c.699_700insA c.(697-702)acaaaafs p.TK233fs NM_152546.2 NP_689759.2 Q8NEF9 SRFB1_HUMAN serum response factor binding protein 1 233 regulation of transcription, DNA-dependent|transcription, DNA-dependent perinuclear region of cytoplasm central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1) 15 all_cancers(142;0.0124)|Prostate(80;0.0322) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517) TAAGTCAAACCAAAAAAAACAA 0.401 7 486 --- --- --- --- OR2V2 285659 broad.mit.edu 37 5 180582648 180582648 + Frame_Shift_Del DEL A A - TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr5:180582648delA ENST00000328275.1 + 1 706 c.706delA c.(706-708)aafs p.K237fs NM_206880.1 NP_996763.1 Q96R30 OR2V2_HUMAN olfactory receptor, family 2, subfamily V, member 2 237 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TCAGGCCTGGAAAAAGGCCCT 0.567 7 611 --- --- --- --- ZNRD1-AS1 0 broad.mit.edu 37 6 29977389 29977393 + RNA DEL CTTCT CTTCT - TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr6:29977389_29977393delCTTCT ENST00000376797.3 - 0 731 ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA AGAACCCTGACTTCTCTTTCTGCAA 0.488 7 126 --- --- --- --- STK19 8859 broad.mit.edu 37 6 31939829 31939830 + Frame_Shift_Ins INS - - A TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr6:31939829_31939830insA ENST00000375331.2 + 1 222_223 c.56_57insA c.(55-57)gaafs p.E19fs STK19_ENST00000375333.2_Frame_Shift_Ins_p.E19fs|DOM3Z_ENST00000478221.1_5'UTR|DOM3Z_ENST00000337523.5_5'UTR|DOM3Z_ENST00000375349.3_5'UTR NM_004197.1 NP_004188.1 P49842 STK19_HUMAN serine/threonine kinase 19 19 nucleus ATP binding|protein binding|protein serine/threonine kinase activity skin(5)|upper_aerodigestive_tract(2) 7 CAGTGGCGGGCAAACCCCTCCC 0.634 7 899 --- --- --- --- CYP21A1P 0 broad.mit.edu 37 6 31973891 31973891 + RNA DEL T T - TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr6:31973891delT ENST00000342991.6 + 0 479 NR_040090.1 Q5ST44 Q5ST44_HUMAN electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen cttaaacaaattttttttttg 0.493 9 134 --- --- --- --- MAP3K7 6885 broad.mit.edu 37 6 91296568 91296570 + In_Frame_Del DEL GAG GAG - TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr6:91296568_91296570delGAG ENST00000369329.3 - 1 194_196 c.33_35delCTC c.(31-36)tcg>tc p.SS13del MAP3K7_ENST00000369332.3_In_Frame_Del_p.SS13del|MAP3K7_ENST00000369327.3_In_Frame_Del_p.SS13del|MAP3K7_ENST00000369325.3_In_Frame_Del_p.SS13del NM_145331.2 NP_663304.1 O43318 M3K7_HUMAN mitogen-activated protein kinase kinase kinase 7 13 Poly-Ser. activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 28 all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164) OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429) GGCCGAAGACGAGGAGGAGGAGG 0.655 8 228 --- --- --- --- KIAA0408 9729 broad.mit.edu 37 6 127767596 127767596 + Frame_Shift_Del DEL C C - TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr6:127767596delC ENST00000483725.3 - 5 2204 c.1868delG c.(1867-1869)gafs p.G623fs SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR NM_014702.4 NP_055517.3 Q6ZU52 K0408_HUMAN KIAA0408 623 protein binding endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1) 28 GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13) CACTTCCTGTCCCCCCCACAC 0.398 7 1421 --- --- --- --- EPB41L2 2037 broad.mit.edu 37 6 131191073 131191075 + In_Frame_Del DEL CTG CTG - TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr6:131191073_131191075delCTG ENST00000337057.3 - 15 2416_2418 c.2235_2237delCAG c.(2233-2238)agt>ag p.SS745del EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000368128.2_In_Frame_Del_p.SS745del|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000529208.1_In_Frame_Del_p.SS675del|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000524581.1_In_Frame_Del_p.SS123del|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000527411.1_In_Frame_Del_p.SS675del|EPB41L2_ENST00000527659.1_In_Frame_Del_p.SS675del|EPB41L2_ENST00000530481.1_In_Frame_Del_p.SS675del NM_001431.3 NP_001422.1 O43491 E41L2_HUMAN erythrocyte membrane protein band 4.1-like 2 745 cortical actin cytoskeleton organization extrinsic to membrane|plasma membrane|spectrin actin binding|structural molecule activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2) 44 Breast(56;0.0639) OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355) CTCACTCTCACTGCTGCTGCTGC 0.562 9 479 --- --- --- --- GRM1 2911 broad.mit.edu 37 6 146755399 146755401 + In_Frame_Del DEL CAG CAG - TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr6:146755399_146755401delCAG ENST00000361719.2 + 9 3522_3524 c.3052_3054delCAG c.(3052-3054)del p.Q1022del GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000282753.1_In_Frame_Del_p.Q1022del NM_001278064.1 NP_001264993.1 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 1022 Gln/Pro-rich. synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) CCCTCCTCTCCAGCAGCAGCAGC 0.660 7 935 --- --- --- --- HOXA11 3207 broad.mit.edu 37 7 27222461 27222462 + Frame_Shift_Ins INS - - T TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr7:27222461_27222462insT ENST00000006015.3 - 2 966_967 c.895_896insA c.(895-897)taafs p.*299fs NM_005523.5 NP_005514.1 P31270 HXA11_HUMAN homeobox A11 299 branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation protein-DNA complex|transcription factor complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2) 16 GTCTCTGTTAATTTTTTTTTCC 0.446 T NUP98 CML 11 550 --- --- --- --- TRGC1 0 broad.mit.edu 37 7 38301855 38301856 + RNA DEL GT GT - TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr7:38301855_38301856delGT ENST00000443402.2 - 0 330 NM_001003799.1|NM_001003806.1 NP_001003799.1|NP_001003806.1 TCAATTGTTCGTGTGTGTGTGT 0.356 7 448 --- --- --- --- GTF2IRD2P1 0 broad.mit.edu 37 7 72667747 72667747 + RNA DEL T T - TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr7:72667747delT ENST00000425256.1 - 0 633 NR_002164.1 tttttttttcttttttttttt 0.388 8 99 --- --- --- --- STX1A 6804 broad.mit.edu 37 7 73123425 73123427 + In_Frame_Del DEL CAT CAT - TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr7:73123425_73123427delCAT ENST00000222812.3 - 2 82_84 c.56_58delATG c.(55-60)gtc>g p.DV19del STX1A_ENST00000395154.3_In_Frame_Del_p.DV19del|STX1A_ENST00000395155.3_In_Frame_Del_p.DV19del|STX1A_ENST00000395156.3_In_Frame_Del_p.DV19del NM_004603.3 NP_004594.1 Q16623 STX1A_HUMAN syntaxin 1A (brain) 19 energy reserve metabolic process|glutamate secretion|intracellular protein transport|regulation of insulin secretion cell junction|extracellular region|integral to membrane|neuron projection|synaptic vesicle membrane|synaptosome SNAP receptor activity large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 5 Lung NSC(55;0.0908)|all_lung(88;0.198) GTGACAGCGACATCATCATCATC 0.586 10 688 --- --- --- --- TMEM60 85025 broad.mit.edu 37 7 77423460 77423460 + Frame_Shift_Del DEL T T - TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr7:77423460delT ENST00000257663.3 - 2 607 c.231delA c.(229-231)aafs p.K77fs NM_032936.3 NP_116325.1 Q9H2L4 TMM60_HUMAN transmembrane protein 60 77 integral to membrane endometrium(1)|large_intestine(1)|lung(2) 4 GGTACCAGGCTTTTTTTTTAA 0.408 16 573 --- --- --- --- CYP51A1 1595 broad.mit.edu 37 7 91752494 91752494 + Frame_Shift_Del DEL T T - TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr7:91752494delT ENST00000003100.8 - 7 1191 c.1026delA c.(1024-1026)aafs p.K342fs LRRD1_ENST00000422722.1_5'UTR|CYP51A1_ENST00000450723.1_Frame_Shift_Del_p.K237fs NM_000786.3 NP_000777.1 Q16850 CP51A_HUMAN cytochrome P450, family 51, subfamily A, polypeptide 1 336 cholesterol biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|sterol 14-demethylase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1) 10 all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251) CTAAATAACATTTTTTTTGAA 0.398 9 725 --- --- --- --- PEX1 5189 broad.mit.edu 37 7 92146721 92146721 + Frame_Shift_Del DEL T T - TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr7:92146721delT ENST00000248633.4 - 5 1203 c.1108delA c.(1108-1110)ttfs p.I370fs PEX1_ENST00000541751.1_5'UTR|PEX1_ENST00000438045.1_Intron|PEX1_ENST00000428214.1_Frame_Shift_Del_p.I370fs NM_000466.2 NP_000457.1 O43933 PEX1_HUMAN peroxisomal biogenesis factor 1 370 microtubule-based peroxisome localization|protein import into peroxisome matrix cytosol|nucleus|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592) Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123) GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) TCTGACCTAATTTTTTTTTGA 0.353 12 514 --- --- --- --- SAMD9L 219285 broad.mit.edu 37 7 92761061 92761061 + Frame_Shift_Del DEL T T - TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr7:92761061delT ENST00000318238.4 - 5 5440 c.4224delA c.(4222-4224)aafs p.K1408fs SAMD9L_ENST00000437805.1_Frame_Shift_Del_p.K1408fs|SAMD9L_ENST00000411955.1_Frame_Shift_Del_p.K1408fs NM_152703.2 NP_689916.2 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 1408 central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) CTCGGAGTTGTTTTTTTAGCG 0.408 8 1166 --- --- --- --- ZAN 7455 broad.mit.edu 37 7 100369720 100369721 + RNA INS - - T TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr7:100369720_100369721insT ENST00000542585.1 + 0 5573 ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) cctctaaattcttttttttttt 0.535 9 30 --- --- --- --- WDR60 55112 broad.mit.edu 37 7 158704353 158704353 + Frame_Shift_Del DEL A A - TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr7:158704353delA ENST00000407559.3 + 12 1731 c.1573delA c.(1573-1575)aafs p.K526fs NM_018051.4 NP_060521.4 Q8WVS4 WDR60_HUMAN WD repeat domain 60 526 NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2) 35 Ovarian(565;0.152) all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18) AAACTTTGGGAAAAAAAATAC 0.328 7 361 --- --- --- --- MCPH1 79648 broad.mit.edu 37 8 6289099 6289099 + Frame_Shift_Del DEL A A - TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr8:6289099delA ENST00000344683.5 + 4 389 c.313delA c.(313-315)aafs p.K107fs MCPH1_ENST00000519480.1_Frame_Shift_Del_p.K107fs|MCPH1_ENST00000522905.1_Frame_Shift_Del_p.K107fs NM_024596.3 NP_078872.2 Q8NEM0 MCPH1_HUMAN microcephalin 1 107 microtubule organizing center AGPAT5/MCPH1(2) central_nervous_system(1)|large_intestine(4)|skin(1) 6 Hepatocellular(245;0.0663) Colorectal(4;0.0505) AAGCCTAATTAAAAAAAAAGT 0.274 8 361 --- --- --- --- ATAD2 29028 broad.mit.edu 37 8 124384892 124384893 + Frame_Shift_Ins INS - - T TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr8:124384892_124384893insT ENST00000287394.5 - 3 461_462 c.354_355insA c.(352-357)aaaagafs p.R119fs ATAD2_ENST00000521903.1_5'UTR NM_014109.3 NP_054828.2 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 119 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity p.E119fs*8(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) CTGTGCTCTTCTTTTTTTTTAT 0.267 9 566 --- --- --- --- CYP11B2 1585 broad.mit.edu 37 8 143993951 143993953 + In_Frame_Del DEL GCA GCA - TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr8:143993951_143993953delGCA ENST00000323110.2 - 8 1393_1395 c.1391_1393delTGC c.(1390-1395)cac>c p.LH464del NM_000498.3 NP_000489.3 P19099 C11B2_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 2 464 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3) 39 all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Candesartan(DB00796)|Metyrapone(DB01011) CTTACGTGGTGCAGCAGCAGCAG 0.685 Familial Hyperaldosteronism type I 7 401 --- --- --- --- FOXD4 2298 broad.mit.edu 37 9 117406 117407 + Frame_Shift_Ins INS - - G TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad 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 8 452 --- --- --- --- MLLT3 4300 broad.mit.edu 37 9 20413952 20413952 + Frame_Shift_Del DEL T T - TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr9:20413952delT ENST00000380338.4 - 5 1178 c.892delA c.(892-894)ggfs p.R298fs MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Frame_Shift_Del_p.R295fs|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 298 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) CTCTTTTTCCTTTTTTTGGCT 0.393 T MLL ALL 8 823 --- --- --- --- TAF1L 138474 broad.mit.edu 37 9 32633584 32633584 + Frame_Shift_Del DEL T T - TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr9:32633584delT ENST00000242310.4 - 1 2083 c.1994delA c.(1993-1995)agfs p.K665fs RP11-555J4.4_ENST00000430787.1_RNA NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 665 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding p.K665fs*4(2) breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) CATCTTGGCCTTTTTTTTGAT 0.478 9 572 --- --- --- --- RUSC2 9853 broad.mit.edu 37 9 35560102 35560104 + In_Frame_Del DEL GCT GCT - TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr9:35560102_35560104delGCT ENST00000455600.1 + 10 4034_4036 c.3465_3467delGCT c.(3463-3468)gag>ga p.EL1155del NM_001135999.1 NP_001129471.1 Q8N2Y8 RUSC2_HUMAN RUN and SH3 domain containing 2 1155 RUN. cytosol NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194) TCTTTGAAGAGCTGCTGCTGCTG 0.616 8 834 --- --- --- --- GRHPR 9380 broad.mit.edu 37 9 37424907 37424908 + Frame_Shift_Ins INS - - G rs150805048 TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr9:37424907_37424908insG ENST00000607784.1 + 2 154_155 c.149_150insG c.(148-150)gggfs p.G50fs GRHPR_ENST00000493368.1_3'UTR|GRHPR_ENST00000318158.6_Frame_Shift_Ins_p.G50fs Q9UBQ7 GRHPR_HUMAN glyoxylate reductase/hydroxypyruvate reductase 50 cellular nitrogen compound metabolic process|excretion|glyoxylate metabolic process peroxisomal matrix glycerate dehydrogenase activity|glyoxylate reductase (NADP) activity|hydroxypyruvate reductase activity|NAD binding|protein binding endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 GBM - Glioblastoma multiforme(29;0.00687) CGAGGTGTGGCGGGGGCCCACG 0.658 8 448 --- --- --- --- NFIL3 4783 broad.mit.edu 37 9 94172779 94172779 + Frame_Shift_Del DEL T T - TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr9:94172779delT ENST00000297689.3 - 2 632 c.238delA c.(238-240)ggfs p.R81fs NM_005384.2 NP_005375.2 Q16649 NFIL3_HUMAN nuclear factor, interleukin 3 regulated 81 circadian rhythm|immune response|transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1) 16 TTTTTCCGCCTTTTTTCCCAA 0.423 7 1123 --- --- --- --- ASTN2 23245 broad.mit.edu 37 9 119976989 119976991 + In_Frame_Del DEL CAG CAG - TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr9:119976989_119976991delCAG ENST00000313400.4 - 3 761_763 c.661_663delCTG c.(661-663)del p.L221del ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del O75129 ASTN2_HUMAN astrotactin 2 221 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 CGGTGAACACCAGCAGCAGCAGC 0.601 10 284 --- --- --- --- FAS 355 broad.mit.edu 37 10 90768708 90768708 + Frame_Shift_Del DEL T T - TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr10:90768708delT ENST00000355740.2 + 4 617 c.397delT c.(397-399)ttfs p.F134fs FAS_ENST00000313771.5_3'UTR|FAS_ENST00000357339.2_Frame_Shift_Del_p.F134fs|FAS_ENST00000355279.2_Frame_Shift_Del_p.F134fs|FAS_ENST00000352159.4_Frame_Shift_Del_p.F134fs NM_000043.4|NM_152871.2|NM_152872.2 NP_000034.1|NP_690610.1|NP_690611.1 P25445 TNR6_HUMAN Fas cell surface death receptor 134 activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death cytosol|extracellular region|integral to membrane|soluble fraction identical protein binding|kinase binding breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2) 18 Colorectal(252;0.0161) Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193) TAAACCAAACTTTTTTTGTAA 0.368 7 2335 --- --- --- --- TM9SF3 56889 broad.mit.edu 37 10 98336475 98336475 + Frame_Shift_Del DEL T T - TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr10:98336475delT ENST00000371142.4 - 2 430 c.214delA c.(214-216)gtfs p.S72fs NM_020123.3 NP_064508.3 Q9HD45 TM9S3_HUMAN transmembrane 9 superfamily member 3 72 integral to membrane binding breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1) 15 Colorectal(252;0.158) Epithelial(162;1.84e-09)|all cancers(201;2.84e-08) TGACTGATACTTTTTTTTGAC 0.363 11 646 --- --- --- --- SLK 9748 broad.mit.edu 37 10 105727547 105727549 + In_Frame_Del DEL AGA AGA - TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr10:105727547_105727549delAGA ENST00000369755.3 + 1 589_591 c.44_46delAGA c.(43-48)gag>g p.EK15del SLK_ENST00000335753.4_In_Frame_Del_p.EK15del NM_014720.2 NP_055535.2 Q9H2G2 SLK_HUMAN STE20-like kinase 15 apoptosis|nucleotide-excision repair cytoplasm|plasma membrane ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2) 8 Colorectal(252;0.178) Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) TTGGGGAGCGAGAAGAAGAAGAA 0.448 7 545 --- --- --- --- AP2A2 161 broad.mit.edu 37 11 970195 970195 + Frame_Shift_Del DEL A A - TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr11:970195delA ENST00000448903.2 + 3 304 c.163delA c.(163-165)aafs p.K57fs AP2A2_ENST00000332231.5_Frame_Shift_Del_p.K57fs|AP2A2_ENST00000534328.1_Frame_Shift_Del_p.K57fs NM_001242837.1|NM_012305.3 NP_001229766.1|NP_036437.1 O94973 AP2A2_HUMAN adaptor-related protein complex 2, alpha 2 subunit 57 Lipid-binding. axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction AP-2 adaptor complex|cytosol lipid binding|protein transporter activity p.K57fs*24(1) breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2) 21 all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082) TGGCTATAGTAAAAAAAAGTA 0.488 9 690 --- --- --- --- HNRNPKP3 0 broad.mit.edu 37 11 43283605 43283606 + RNA INS - - A TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr11:43283605_43283606insA ENST00000511537.1 - 0 1329_1330 NR_033868.1 GAAGCAAATGTAAAAAAAAAAA 0.386 7 11 --- --- --- --- FTH1 2495 broad.mit.edu 37 11 61732517 61732517 + Frame_Shift_Del DEL T T - TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr11:61732517delT ENST00000273550.7 - 3 563 c.329delA c.(328-330)atfs p.N110fs BEST1_ENST00000449131.2_3'UTR|FTH1_ENST00000529631.1_Intron|FTH1_ENST00000532601.1_Frame_Shift_Del_p.N40fs|FTH1_ENST00000529191.1_Intron|FTH1_ENST00000526640.1_Frame_Shift_Del_p.N80fs NM_002032.2 NP_002023.2 P02794 FRIH_HUMAN ferritin, heavy polypeptide 1 110 Ferritin-like diiron. cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport cytosol|intracellular ferritin complex ferric iron binding|ferroxidase activity|protein binding NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 8 Iron Dextran(DB00893) CTGATTCACATTTTTTTCCAA 0.423 8 1193 --- --- --- --- RARRES3 5920 broad.mit.edu 37 11 63313708 63313709 + Frame_Shift_Ins INS - - A rs74932327 TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr11:63313708_63313709insA ENST00000255688.3 + 4 523_524 c.475_476insA c.(475-477)aaafs p.K159fs RARRES3_ENST00000354445.2_Frame_Shift_Ins_p.K159fs|RARRES3_ENST00000537871.1_3'UTR NM_004585.3 NP_004576.2 Q9UL19 TIG3_HUMAN retinoic acid receptor responder (tazarotene induced) 3 159 lipid catabolic process|negative regulation of cell proliferation hydrolase activity kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 6 TAGGAGATACCAAAAAAAAGCG 0.540 7 820 --- --- --- --- CHEK1 1111 broad.mit.edu 37 11 125505377 125505378 + Frame_Shift_Ins INS - - A rs35817404 TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr11:125505377_125505378insA ENST00000534070.1 + 7 922_923 c.667_668insA c.(667-669)aaafs p.K223fs CHEK1_ENST00000544373.1_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000438015.1_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000427383.2_Frame_Shift_Ins_p.K239fs|CHEK1_ENST00000532449.1_3'UTR|CHEK1_ENST00000524737.1_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000428830.2_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000278916.3_Frame_Shift_Ins_p.K223fs NM_001274.5 NP_001265.2 O14757 CHK1_HUMAN checkpoint kinase 1 223 Protein kinase. E -> V (in dbSNP:rs35817404). cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence condensed nuclear chromosome|microtubule organizing center|nucleoplasm ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(175;0.228) Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748) TGACTGGAAAGAAAAAAAAACA 0.361 Other conserved DNA damage response genes 21 620 --- --- --- --- C12orf42 374470 broad.mit.edu 37 12 103695960 103695960 + Frame_Shift_Del DEL G G - TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr12:103695960delG ENST00000548048.1 - 9 1304 c.808delC c.(808-810)gcfs p.R270fs C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000378113.2_Frame_Shift_Del_p.R337fs|C12orf42_ENST00000548883.1_Frame_Shift_Del_p.R337fs Q96LP6 CL042_HUMAN chromosome 12 open reading frame 42 337 NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1) 22 CGGGTTGGGCGGGGGGGTGCT 0.587 9 698 --- --- --- --- RP11-248G5.8 0 broad.mit.edu 37 13 52796688 52796688 + RNA DEL C C - TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr13:52796688delC ENST00000451298.1 - 0 1229 RP11-64P12.8_ENST00000606031.1_RNA cgctattgctccccacccatc 0.537 13 69 --- --- --- --- TEP1 7011 broad.mit.edu 37 14 20852647 20852647 + Frame_Shift_Del DEL C C - TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr14:20852647delC ENST00000262715.5 - 23 3282 c.3242delG c.(3241-3243)gtfs p.G1081fs TEP1_ENST00000556935.1_Frame_Shift_Del_p.G973fs NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 1081 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding p.V1082fs*47(1) NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) AGCTGCCACACCCCCCCACTC 0.587 7 1358 --- --- --- --- IL25 0 broad.mit.edu 37 14 23845057 23845058 + Frame_Shift_Del DEL TG TG - TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr14:23845057_23845058delTG ENST00000329715.2 + 2 760_761 c.502_503delTG c.(502-504)tfs p.C168fs IL25_ENST00000397242.2_Frame_Shift_Del_p.C152fs NM_022789.3 NP_073626.1 Q9H293 IL25_HUMAN interleukin 25 168 inflammatory response extracellular space|membrane cytokine activity|interleukin-17E receptor binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 9 all_cancers(95;2e-05) GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396) TTCCTTAGCTTGTGTGTGTGTG 0.604 13 704 --- --- --- --- G2E3 55632 broad.mit.edu 37 14 31074771 31074772 + Frame_Shift_Ins INS - - A TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr14:31074771_31074772insA ENST00000206595.6 + 11 1225_1226 c.1071_1072insA c.(1069-1074)ataaaafs p.IK357fs G2E3_ENST00000438909.2_Frame_Shift_Ins_p.IK311fs|G2E3_ENST00000553504.1_Frame_Shift_Ins_p.IK387fs|G2E3_ENST00000544007.1_Intron NM_017769.3 NP_060239.2 Q7L622 G2E3_HUMAN G2/M-phase specific E3 ubiquitin protein ligase 357 apoptosis|multicellular organismal development|protein modification process Golgi apparatus|nucleolus acid-amino acid ligase activity|protein binding|zinc ion binding endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 23 GATTCCAAATTAAAAAAAAAAC 0.272 10 123 --- --- --- --- RALGAPA1 253959 broad.mit.edu 37 14 36194270 36194270 + Frame_Shift_Del DEL T T - TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr14:36194270delT ENST00000258840.6 - 14 2216 c.1826delA c.(1825-1827)atfs p.N609fs RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000389698.3_Frame_Shift_Del_p.N609fs|RALGAPA1_ENST00000382366.3_Frame_Shift_Del_p.N609fs|RALGAPA1_ENST00000307138.6_Frame_Shift_Del_p.N609fs Q6GYQ0 RGPA1_HUMAN Ral GTPase activating protein, alpha subunit 1 (catalytic) 609 activation of Ral GTPase activity cytosol|mitochondrion|nucleus protein heterodimerization activity|Ral GTPase activator activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 CAAGGTCATATTTTTTTTCCC 0.378 7 276 --- --- --- --- OTX2-AS1 0 broad.mit.edu 37 14 57509058 57509064 + RNA DEL TCCAAGC TCCAAGC - TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr14:57509058_57509064delTCCAAGC ENST00000554725.1 + 0 344 CCAGAAGCCTTCCAAGCTCCAAGCCCT 0.483 9 65 --- --- --- --- GOLGA8DP 0 broad.mit.edu 37 15 22709778 22709779 + RNA DEL TC TC - TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr15:22709778_22709779delTC ENST00000314246.8 - 0 1069 CATGCTACCATCTCTCTCTCTG 0.535 7 400 --- --- --- --- SNHG14 0 broad.mit.edu 37 15 25456925 25456925 + RNA DEL G G - TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr15:25456925delG ENST00000424208.1 + 0 2516 SNHG14_ENST00000424333.1_RNA|SNHG14_ENST00000450809.1_RNA NR_003305.1 TGTGTGGGCAGGGGGGGTGCC 0.557 8 921 --- --- --- --- OCA2 4948 broad.mit.edu 37 15 28200305 28200305 + Splice_Site DEL T T - TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr15:28200305delT ENST00000354638.3 - 17 1996 c.1842_splice c.e17+1 p.K614_splice OCA2_ENST00000353809.5_Splice_Site_p.K590_splice|OCA2_ENST00000382996.2_Splice_Site_p.K614_splice NM_000275.2 NP_000266.2 Q04671 P_HUMAN oculocutaneous albinism II 614 K -> E (in OCA2).|K -> N (in OCA2). eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) GCTGGGTACCTTTTTTTGGAG 0.443 Oculocutaneous Albinism 8 756 --- --- --- --- SRP14 6727 broad.mit.edu 37 15 40328597 40328599 + In_Frame_Del DEL TGC TGC - TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr15:40328597_40328599delTGC ENST00000267884.6 - 5 417_419 c.346_348delGCA c.(346-348)del p.A116del SRP14_ENST00000558527.1_5'UTR|SRP14_ENST00000560773.1_In_Frame_Del_p.A36del|SRP14_ENST00000558720.1_In_Frame_Del_p.A36del NM_003134.4 NP_003125.3 P37108 SRP14_HUMAN signal recognition particle 14kDa (homologous Alu RNA binding protein) 116 Ala/Thr-rich. negative regulation of translational elongation|response to drug|SRP-dependent cotranslational protein targeting to membrane cytosol|signal recognition particle, endoplasmic reticulum targeting 7S RNA binding|endoplasmic reticulum signal peptide binding|protein binding endometrium(1)|skin(1)|upper_aerodigestive_tract(1) 3 all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505) ctgcggcaggtgctgctgctgct 0.478 9 313 --- --- --- --- RMDN3 55177 broad.mit.edu 37 15 41029893 41029894 + Frame_Shift_Ins INS - - T TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr15:41029893_41029894insT ENST00000260385.6 - 9 2223_2224 c.1156_1157insA c.(1156-1158)tgcfs p.C386fs RMDN3_ENST00000558560.1_5'UTR|RMDN3_ENST00000338376.3_Frame_Shift_Ins_p.C386fs regulator of microtubule dynamics 3 GGCTGTAGCAGTTTTTTTTTCT 0.450 7 419 --- --- --- --- NOX5 79400 broad.mit.edu 37 15 69328208 69328210 + In_Frame_Del DEL CTG CTG - TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr15:69328208_69328210delCTG ENST00000260364.5 + 8 1367_1369 c.1066_1068delCTG c.(1066-1068)del p.L362del NOX5_ENST00000530406.2_In_Frame_Del_p.L352del|NOX5_ENST00000448182.3_In_Frame_Del_p.L334del|NOX5_ENST00000388866.3_In_Frame_Del_p.L380del|NOX5_ENST00000455873.3_In_Frame_Del_p.L345del Q96PH1 NOX5_HUMAN NADPH oxidase, EF-hand calcium binding domain 5 380 Ferric oxidoreductase. angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation endoplasmic reticulum|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 AGGTGTCGCTCTGCTGCTGCTGC 0.626 10 906 --- --- --- --- ARID3B 10620 broad.mit.edu 37 15 74888025 74888027 + In_Frame_Del DEL CAG CAG - rs141710149 TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr15:74888025_74888027delCAG ENST00000346246.5 + 9 1824_1826 c.1593_1595delCAG c.(1591-1596)gcc>gc p.AS531del NM_006465.2 NP_006456.1 Q8IVW6 ARI3B_HUMAN AT rich interactive domain 3B (BRIGHT-like) 532 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2) 14 gcagcagcgccagcagcagcagc 0.640 7 230 --- --- --- --- DNM1P47 0 broad.mit.edu 37 15 102299886 102299887 + RNA INS - - G TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr15:102299886_102299887insG ENST00000561463.1 + 0 7932_7933 AACCTGTACTCGCGTCGGAACC 0.589 7 47 --- --- --- --- TNRC6A 27327 broad.mit.edu 37 16 24807240 24807240 + Frame_Shift_Del DEL A A - TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr16:24807240delA ENST00000395799.3 + 9 3670 c.3541delA c.(3541-3543)aafs p.K1182fs TNRC6A_ENST00000315183.7_Frame_Shift_Del_p.K1182fs NM_014494.2 NP_055309.2 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 1182 Sufficient for interaction with EIF2C1 and EIF2C4. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 GBM - Glioblastoma multiforme(48;0.0394) TCTGAGTGGCAAAAAAAGGAG 0.398 9 809 --- --- --- --- ZNF629 23361 broad.mit.edu 37 16 30793261 30793261 + Frame_Shift_Del DEL G G - TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr16:30793261delG ENST00000262525.4 - 3 2595 c.2388delC c.(2386-2388)ccfs p.P796fs NM_001080417.1 NP_001073886.1 Q9UEG4 ZN629_HUMAN zinc finger protein 629 796 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1) 22 Colorectal(24;0.198) CCTCGGGATTGGGGGGTTTTT 0.652 7 1209 --- --- --- --- ZFP90 146198 broad.mit.edu 37 16 68598462 68598463 + Frame_Shift_Ins INS - - A TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr16:68598462_68598463insA ENST00000570495.1 + 5 2064_2065 c.1772_1773insA c.(1771-1773)caafs p.Q591fs ZFP90_ENST00000398253.2_Frame_Shift_Ins_p.Q591fs|RP11-615I2.7_ENST00000571720.1_RNA|ZFP90_ENST00000563169.2_Frame_Shift_Ins_p.Q591fs Q8TF47 ZFP90_HUMAN ZFP90 zinc finger protein 591 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 27 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946) AGAGCCTTCCGAAAAAAAACCA 0.411 8 946 --- --- --- --- ZFHX3 463 broad.mit.edu 37 16 72991713 72991715 + In_Frame_Del DEL CCA CCA - rs4788682 by1000genomes TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr16:72991713_72991715delCCA ENST00000268489.5 - 2 3002_3004 c.2330_2332delTGG c.(2329-2334)gct>g p.VA777del ZFHX3_ENST00000397992.5_Intron NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 777 Poly-Ala. V -> A (in dbSNP:rs4788682). muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.V777V(1) NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) gccgccgcagccaccgccgccgc 0.635 14 413 --- --- --- --- C16orf46 123775 broad.mit.edu 37 16 81095470 81095470 + Frame_Shift_Del DEL T T - TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr16:81095470delT ENST00000378611.4 - 3 599 c.484delA c.(484-486)gtfs p.S162fs C16orf46_ENST00000299578.5_Frame_Shift_Del_p.S162fs|RP11-303E16.8_ENST00000564536.1_RNA|C16orf46_ENST00000444657.3_5'UTR NM_001100873.1 NP_001094343.1 Q6P387 CP046_HUMAN chromosome 16 open reading frame 46 162 NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1) 18 ATTTGCAGACTTTTTTTCTCT 0.572 7 1467 --- --- --- --- C17orf85 55421 broad.mit.edu 37 17 3721809 3721811 + In_Frame_Del DEL TCC TCC - TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr17:3721809_3721811delTCC ENST00000158149.3 - 11 1111_1113 c.216_218delGGA c.(214-219)gaa>ga p.EE78del C17orf85_ENST00000389005.4_In_Frame_Del_p.EE358del Q53F19 CQ085_HUMAN chromosome 17 open reading frame 85 358 nucleotide binding endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1) 10 UCEC - Uterine corpus endometrioid carcinoma (3;0.0725) ctcttcctcttcctcctcctcct 0.507 8 496 --- --- --- --- MYH10 4628 broad.mit.edu 37 17 8397095 8397097 + In_Frame_Del DEL CCT CCT - TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr17:8397095_8397097delCCT ENST00000360416.3 - 32 4301_4303 c.4163_4165delAGG c.(4162-4167)gcc>g p.EA1388del MYH10_ENST00000269243.4_In_Frame_Del_p.EA1357del|MYH10_ENST00000379980.4_In_Frame_Del_p.EA1373del|MYH10_ENST00000396239.1_In_Frame_Del_p.EA1378del NM_001256012.1 NP_001242941.1 P35580 MYH10_HUMAN myosin, heavy chain 10, non-muscle 1357 actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 TTCTTCCTGGCCTCCTCCTCCTC 0.596 8 353 --- --- --- --- AKAP1 8165 broad.mit.edu 37 17 55183460 55183460 + Frame_Shift_Del DEL A A - TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr17:55183460delA ENST00000337714.3 + 2 868 c.635delA c.(634-636)gafs p.E212fs AKAP1_ENST00000539273.1_Frame_Shift_Del_p.E212fs|AKAP1_ENST00000572557.1_Frame_Shift_Del_p.E212fs|AKAP1_ENST00000314126.3_Frame_Shift_Del_p.E212fs|AKAP1_ENST00000571629.1_Frame_Shift_Del_p.E212fs NM_003488.3 NP_003479.1 Q92667 AKAP1_HUMAN A kinase (PRKA) anchor protein 1 212 blood coagulation cytosol|integral to membrane|mitochondrial outer membrane protein binding|RNA binding endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1) 14 Breast(9;5.46e-08) GTGTTGGGGGAAAAGGTGCTT 0.587 7 617 --- --- --- --- AMZ2P1 0 broad.mit.edu 37 17 62968575 62968575 + RNA DEL T T - TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr17:62968575delT ENST00000430983.1 - 0 1593 NR_026903.1 TTGGTTGGAATTTTTTTCCCT 0.333 12 224 --- --- --- --- HELZ 9931 broad.mit.edu 37 17 65134199 65134199 + Frame_Shift_Del DEL A A - TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr17:65134199delA ENST00000358691.5 - 22 2967 c.2801delT c.(2800-2802)tafs p.L934fs HELZ_ENST00000580168.1_Frame_Shift_Del_p.L935fs NM_014877.3 NP_055692.2 helicase with zinc finger NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) CTTCCTTCTTAACTCTTCTAC 0.388 7 573 --- --- --- --- CXXC1 30827 broad.mit.edu 37 18 47812275 47812277 + In_Frame_Del DEL CTG CTG - TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr18:47812275_47812277delCTG ENST00000285106.6 - 5 1195_1197 c.481_483delCAG c.(481-483)del p.Q161del CXXC1_ENST00000412036.2_In_Frame_Del_p.Q161del|CXXC1_ENST00000589940.1_In_Frame_Del_p.Q161del NM_001101654.1|NM_014593.3 NP_001095124.1|NP_055408.2 Q9P0U4 CXXC1_HUMAN CXXC finger protein 1 161 histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck|Set1C/COMPASS complex protein binding|unmethylated CpG binding|zinc ion binding autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 24 ACCGTTTGATctgctgctgctgc 0.557 9 265 --- --- --- --- ZADH2 284273 broad.mit.edu 37 18 72913980 72913980 + Frame_Shift_Del DEL T T - TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr18:72913980delT ENST00000322342.3 - 2 814 c.525delA c.(523-525)aafs p.K175fs ZADH2_ENST00000537114.2_Frame_Shift_Del_p.K52fs NM_175907.4 NP_787103.1 Q8N4Q0 ZADH2_HUMAN zinc binding alcohol dehydrogenase domain containing 2 175 peroxisome oxidoreductase activity|zinc ion binding endometrium(3)|large_intestine(3)|lung(8)|skin(1) 15 Esophageal squamous(42;0.131)|Prostate(75;0.155) READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216) TCACCAAAACTTTTTTCCCTT 0.517 7 2332 --- --- --- --- ZNF236 7776 broad.mit.edu 37 18 74593429 74593430 + Frame_Shift_Ins INS - - A TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr18:74593429_74593430insA ENST00000253159.8 + 9 1570_1571 c.1372_1373insA c.(1372-1374)aaafs p.K458fs ZNF236_ENST00000320610.9_Frame_Shift_Ins_p.K460fs NM_007345.3 NP_031371.3 Q9UL36 ZN236_HUMAN zinc finger protein 236 458 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 94 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) GGATAAAAAAGAAAAAAAAATG 0.381 7 298 --- --- --- --- MAMSTR 284358 broad.mit.edu 37 19 49218105 49218106 + Frame_Shift_Ins INS - - G TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr19:49218105_49218106insG ENST00000318083.6 - 6 548_549 c.485_486insC c.(484-486)ccafs p.P162fs MAMSTR_ENST00000377367.3_Frame_Shift_Ins_p.P59fs|MAMSTR_ENST00000419611.1_Frame_Shift_Ins_p.P59fs|MAMSTR_ENST00000356751.4_Frame_Shift_Ins_p.P59fs|MAMSTR_ENST00000594582.1_Frame_Shift_Ins_p.P59fs Q6ZN01 MASTR_HUMAN MEF2 activating motif and SAP domain containing transcriptional regulator 162 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding endometrium(1)|ovary(1) 2 CCAACTTGTGTGGGGGGGGCGA 0.569 7 713 --- --- --- --- SCAF1 58506 broad.mit.edu 37 19 50156709 50156711 + In_Frame_Del DEL GGA GGA - TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr19:50156709_50156711delGGA ENST00000360565.3 + 7 3187_3189 c.3063_3065delGGA c.(3061-3066)gcg>gc p.AE1021del NM_021228.2 NP_067051.2 Q9H7N4 SFR19_HUMAN SR-related CTD-associated factor 1 1021 Glu-rich. mRNA processing|RNA splicing nucleus RNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 20 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204) GAGGTGGGGCggaggaggaggag 0.655 7 67 --- --- --- --- TRMT6 51605 broad.mit.edu 37 20 5919208 5919208 + Frame_Shift_Del DEL T T - TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr20:5919208delT ENST00000203001.2 - 11 1597 c.1467delA c.(1465-1467)aafs p.K489fs TRMT6_ENST00000473131.1_5'UTR|TRMT6_ENST00000453074.2_Frame_Shift_Del_p.K319fs NM_015939.3 NP_057023.2 Q9UJA5 TRM6_HUMAN tRNA methyltransferase 6 homolog (S. cerevisiae) 489 regulation of translational initiation|tRNA processing nucleus protein binding|translation initiation factor activity breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1) 15 GGCATTTTCGTTTTTTAGCTG 0.408 7 818 --- --- --- --- MIR3648 0 broad.mit.edu 37 21 9825838 9825839 + RNA INS - - GCG rs3052281 TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr21:9825838_9825839insGCG ENST00000581792.1 + 0 7_8 NR_037421.1 cggccgcgactgcggcggcggt 0.842 7 12 --- --- --- --- ANKRD20A11P 0 broad.mit.edu 37 21 15343608 15343609 + RNA INS - - A TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr21:15343608_15343609insA ENST00000344693.5 - 0 736 NR_027270.1 TAAAACAGCAGAAAAAATTAAT 0.272 11 384 --- --- --- --- TCP10L 140290 broad.mit.edu 37 21 33949091 33949091 + Frame_Shift_Del DEL C C - TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr21:33949091delC ENST00000300258.3 - 5 754 c.641delG c.(640-642)gtfs p.G214fs TCP10L_ENST00000491828.1_5'UTR NM_144659.5 NP_653260.1 t-complex 10-like breast(1)|central_nervous_system(1)|liver(1)|skin(1) 4 TCTTCAGACACCCCCCCGTCT 0.478 7 597 --- --- --- --- HIRA 7290 broad.mit.edu 37 22 19373136 19373138 + In_Frame_Del DEL GCT GCT - TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr22:19373136_19373138delGCT ENST00000263208.5 - 12 1491_1493 c.1235_1237delAGC c.(1234-1239)ctg>c p.QL412del HIRA_ENST00000546308.1_In_Frame_Del_p.QL368del|HIRA_ENST00000340170.4_In_Frame_Del_p.QL412del|HIRA_ENST00000541063.1_In_Frame_Del_p.QL368del NM_003325.3 NP_003316.3 P54198 HIRA_HUMAN histone cell cycle regulator 412 Poly-Gln. chromatin modification|regulation of transcription from RNA polymerase II promoter PML body chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1) 37 Colorectal(54;0.0993) TTCTGGTCCAGCTGCTGCTGCTG 0.581 8 294 --- --- --- --- SF3A1 10291 broad.mit.edu 37 22 30742328 30742330 + In_Frame_Del DEL CTG CTG - rs141985009 byFrequency TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chr22:30742328_30742330delCTG ENST00000215793.7 - 3 518_520 c.364_366delCAG c.(364-366)del p.Q122del SF3A1_ENST00000439242.1_Intron NM_005877.4 NP_005868.1 Q15459 SF3A1_HUMAN splicing factor 3a, subunit 1, 120kDa 122 Poly-Gln. nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1) 29 GCTGGGTGGTCTGCTGCTGCTGC 0.606 14 733 --- --- --- --- OFD1 8481 broad.mit.edu 37 X 13764946 13764946 + Frame_Shift_Del DEL A A - TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chrX:13764946delA ENST00000380567.1 + 9 1154 c.282delA c.(280-282)gcfs p.A94fs OFD1_ENST00000380550.3_Frame_Shift_Del_p.A234fs|OFD1_ENST00000398395.3_Frame_Shift_Del_p.A234fs|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000340096.6_Frame_Shift_Del_p.A234fs O75665 OFD1_HUMAN oral-facial-digital syndrome 1 234 LisH. cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle centriole|cilium|cytosol|microtubule basal body|nuclear membrane alpha-tubulin binding|gamma-tubulin binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 25 AAATGGAAGCAAAAAAAAAGT 0.299 7 313 --- --- --- --- TXLNG 55787 broad.mit.edu 37 X 16850849 16850850 + Frame_Shift_Del DEL AG AG - TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chrX:16850849_16850850delAG ENST00000380122.5 + 6 1029_1030 c.968_969delAG c.(967-969)cfs p.Q323fs TXLNG_ENST00000398155.4_Frame_Shift_Del_p.Q191fs NM_018360.2 NP_060830.2 Q9NUQ3 TXLNG_HUMAN taxilin gamma 323 cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nuclear membrane breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 15 GAAAAACATCAGAGAGAGAGAG 0.386 10 403 --- --- --- --- SHROOM4 57477 broad.mit.edu 37 X 50350711 50350713 + In_Frame_Del DEL TCC TCC - rs6614551 TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chrX:50350711_50350713delTCC ENST00000376020.2 - 6 3454_3456 c.3429_3431delGGA c.(3427-3432)gaa>ga p.EE1149del SHROOM4_ENST00000460112.3_In_Frame_Del_p.EE1033del|SHROOM4_ENST00000289292.7_In_Frame_Del_p.EE1149del NM_020717.3 NP_065768.2 Q9ULL8 SHRM4_HUMAN shroom family member 4 1149 Glu-rich. actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 52 Ovarian(276;0.236) ctcttcctcttcctcttcttctt 0.547 9 83 --- --- --- --- HCFC1 3054 broad.mit.edu 37 X 153216342 153216342 + Frame_Shift_Del DEL C C - TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45ef1b12-2e82-41c7-a7b6-ecdd198b3788 0a347018-b42c-4fb7-98e6-6ae5c73930ad g.chrX:153216342delC ENST00000310441.7 - 23 6591 c.5625delG c.(5623-5625)ggfs p.G1875fs HCFC1_ENST00000354233.3_Frame_Shift_Del_p.G1806fs|HCFC1_ENST00000369984.4_Frame_Shift_Del_p.G1920fs NM_005334.2 NP_005325.2 P51610 HCFC1_HUMAN host cell factor C1 (VP16-accessory protein) 1875 cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CGCTGAAGGGCCCCCGGCCAC 0.567 8 1773 --- --- --- ---