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 C20orf166-AS1 253868 broad.mit.edu 37 20 61143483 61143483 + RNA SNP C C T TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr20:61143483C>T ENST00000475015.1 - 0 855 C20orf166-AS1_ENST00000412495.1_RNA p.R122Q(1) ATAGAGACCCCGAATCCACGG 0.642000 9 33 0 0 0.435327 0 0 CENPBD1 92806 broad.mit.edu 37 16 90038224 90038224 + Missense_Mutation SNP G G A TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr16:90038224G>A ENST00000314994.3 - 1 718 c.107C>T c.(106-108)gCg>gTg p.A36V RP11-566K11.5_ENST00000565150.1_RNA|CENPBD1_ENST00000567035.1_Intron NM_145039.3 NP_659476.2 B2RD01 CENP1_HUMAN CENPB DNA-binding domains containing 1 36 HTH psq-type. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding endometrium(1)|lung(2) 3 CTTCTCACCCGCTTCAAATCG 0.468000 12 25 0 0 0.387290 0 0 ZNF304 57343 broad.mit.edu 37 19 57865177 57865177 + Missense_Mutation SNP C C T TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr19:57865177C>T ENST00000391705.3 + 3 402 c.118C>T c.(118-120)Cgt>Tgt p.R40C ZNF304_ENST00000598744.1_5'UTR|ZNF304_ENST00000443917.2_Missense_Mutation_p.R40C|ZNF304_ENST00000282286.5_Missense_Mutation_p.R40C NM_020657.2 NP_065708.2 Q9HCX3 ZN304_HUMAN zinc finger protein 304 40 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1) 26 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265) ATTCCTGTACCGTGATGTGAT 0.453000 10 65 0 0 0.361761 0 0 MS4A2 2206 broad.mit.edu 37 11 59860935 59860935 + Silent SNP C C T TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr11:59860935C>T ENST00000278888.3 + 5 543 c.441C>T c.(439-441)atC>atT p.I147I NM_000139.4 NP_000130.1 Q01362 FCERB_HUMAN membrane-spanning 4-domains, subfamily A, member 2 147 cell proliferation|humoral immune response integral to plasma membrane calcium channel activity endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2) 17 all_epithelial(135;0.245) Omalizumab(DB00043) GAATTACCATCCTGATCATCA 0.478000 28 83 0 0 0.706142 0 0 NOTCH1 4851 broad.mit.edu 37 9 139393696 139393696 + Nonsense_Mutation SNP G G A TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr9:139393696G>A ENST00000277541.6 - 32 6025 c.5950C>T c.(5950-5952)Cga>Tga p.R1984* NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 1984 aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity p.R1984*(1)|p.R1985*(1) breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) TCTGTGGCTCGGTTCCGGATC 0.652000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 16 15 0 0 0.520397 0 0 HEXA 3073 broad.mit.edu 37 15 72641550 72641550 + Missense_Mutation SNP T T C TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr15:72641550T>C ENST00000268097.5 - 8 1359 c.856A>G c.(856-858)Acc>Gcc p.T286A HEXA_ENST00000457859.2_Missense_Mutation_p.T94A|RP11-106M3.3_ENST00000570175.1_RNA|HEXA_ENST00000567159.1_Missense_Mutation_p.T286A|HEXA_ENST00000566304.1_Missense_Mutation_p.T297A|RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000429918.2_Missense_Mutation_p.T113A NM_000520.4 NP_000511.2 P06865 HEXA_HUMAN hexosaminidase A (alpha polypeptide) 286 cell death lysosome beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity p.T286A(1) breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 24 GGTCCAAAGGTGCCAGAGGGC 0.443000 25 25 0 0 0.693898 0 0 ZNF99 7652 broad.mit.edu 37 19 22942355 22942355 + Missense_Mutation SNP C C T TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr19:22942355C>T ENST00000397104.3 - 4 418 c.419G>A c.(418-420)aGt>aAt p.S140N ZNF99_ENST00000596209.1_Missense_Mutation_p.S119N zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) CTCATTGACACTTTCACAATC 0.328000 9 42 0 0 0.307466 0 0 CACNA1D 776 broad.mit.edu 37 3 53842756 53842756 + Missense_Mutation SNP C C T TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr3:53842756C>T ENST00000288139.3 + 47 6008 c.5890C>T c.(5890-5892)Ccc>Tcc p.P1964S CACNA1D_ENST00000350061.5_Missense_Mutation_p.P1944S|CACNA1D_ENST00000422281.2_Missense_Mutation_p.P1920S|CACNA1D_ENST00000544977.1_Missense_Mutation_p.P323S NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit 1944 axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity p.P1964S(1) breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) TCCCATCTTCCCCCATCGCAC 0.637000 15 31 0 0 0.457914 0 0 HOMER3 9454 broad.mit.edu 37 19 19043825 19043825 + Missense_Mutation SNP G G A TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr19:19043825G>A ENST00000596918.1 - 2 124 c.125C>T c.(124-126)aCg>aTg p.T42M HOMER3_ENST00000539827.1_Silent_p.N147N|HOMER3_ENST00000542541.2_Silent_p.N147N|HOMER3_ENST00000433218.2_Silent_p.N147N|HOMER3_ENST00000355887.6_Silent_p.N147N|HOMER3_ENST00000392351.3_Silent_p.N147N|HOMER3_ENST00000594439.1_Silent_p.N111N|HOMER3_ENST00000221222.11_Silent_p.N147N|HOMER3_ENST00000594794.1_Intron CGCCGGGGCCGTTGGCACTGA 0.632000 26 79 0 0 0.729181 0 0 NAV3 89795 broad.mit.edu 37 12 78400845 78400845 + Silent SNP C C A TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr12:78400845C>A ENST00000397909.2 + 8 1700 c.1527C>A c.(1525-1527)ggC>ggA p.G509G NAV3_ENST00000228327.6_Silent_p.G509G|NAV3_ENST00000266692.7_Silent_p.G509G|NAV3_ENST00000536525.2_Silent_p.G509G Q8IVL0 NAV3_HUMAN neuron navigator 3 509 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 TCCCTAAGGGCAGCAAGACAA 0.423000 HNSCC(70;0.22) 14 40 7.93312e-07 8.39435e-07 0.457914 1 0 NRXN2 9379 broad.mit.edu 37 11 64419615 64419615 + Missense_Mutation SNP C C T TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr11:64419615C>T ENST00000265459.6 - 13 2889 c.2428G>A c.(2428-2430)Gaa>Aaa p.E810K NRXN2_ENST00000377559.3_Missense_Mutation_p.E770K|AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000409571.1_Missense_Mutation_p.E803K|NRXN2_ENST00000377551.1_Missense_Mutation_p.E810K NM_015080.3 NP_055895.1 Q9P2S2 NRX2A_HUMAN neurexin 2 810 Laminin G-like 4. cell adhesion integral to membrane metal ion binding p.E810K(1) breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 71 AACAGCGTTTCGGGGCCTTTA 0.577000 6 42 0 0 0.217242 0 0 SLC4A2 6522 broad.mit.edu 37 7 150772826 150772826 + Silent SNP G G A TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr7:150772826G>A ENST00000485713.1 + 21 4475 c.3435G>A c.(3433-3435)ccG>ccA p.P1145P SLC4A2_ENST00000461735.1_Silent_p.P1131P|RP11-148K1.12_ENST00000485974.1_RNA|SLC4A2_ENST00000310317.5_Silent_p.P1063P|SLC4A2_ENST00000392826.2_Silent_p.P1136P|SLC4A2_ENST00000413384.2_Silent_p.P1145P NM_001199692.1 NP_001186621.1 P04920 B3A2_HUMAN solute carrier family 4 (anion exchanger), member 2 1145 Membrane (anion exchange). bicarbonate transport integral to membrane|membrane fraction inorganic anion exchanger activity NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TGCTCATGCCGCCCAAACACC 0.582000 14 41 0 0 0.479597 0 0 IGKV3-20 28912 broad.mit.edu 37 2 89442550 89442550 + RNA SNP C C A TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr2:89442550C>A ENST00000492167.1 - 0 93 CACCTGGGAGCCAGAGTAGCA 0.512000 26 65 1.68575e-08 1.80475e-08 0.717897 1 0 GALNT14 79623 broad.mit.edu 37 2 31155016 31155016 + Missense_Mutation SNP C C T rs139793019 byFrequency TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr2:31155016C>T ENST00000349752.5 - 10 1615 c.976G>A c.(976-978)Gtc>Atc p.V326I GALNT14_ENST00000420311.2_Missense_Mutation_p.V291I|GALNT14_ENST00000324589.5_Missense_Mutation_p.V331I|GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000406653.1_Missense_Mutation_p.V306I|GALNT14_ENST00000356174.3_Missense_Mutation_p.V293I NM_024572.3 NP_078848.2 Q96FL9 GLT14_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) 326 Catalytic subdomain B. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.V326I(1) cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3) 43 Acute lymphoblastic leukemia(172;0.155) CTGCAGGGGACGATCTCTAGG 0.557000 9 49 0 0 0.335167 0 0 ETV1 2115 broad.mit.edu 37 7 13935629 13935629 + Silent SNP T T C TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr7:13935629T>C ENST00000343495.5 - 13 1980 c.1242A>G c.(1240-1242)ccA>ccG p.P414P ETV1_ENST00000405192.2_Silent_p.P409P|ETV1_ENST00000403527.1_Silent_p.P392P|ETV1_ENST00000405358.4_Silent_p.P446P|ETV1_ENST00000420159.2_Silent_p.P374P|ETV1_ENST00000403685.1_Silent_p.P414P|ETV1_ENST00000405218.2_Silent_p.P432P|ETV1_ENST00000430479.1_Silent_p.P432P|ETV1_ENST00000242066.5_Silent_p.P414P|ETV1_ENST00000399357.3_Silent_p.P329P P50549 ETV1_HUMAN ets variant 1 432 transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 31 TCTTCAGCAGTGGACGCTGAT 0.498000 T """EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3""" """Ewing sarcoma, prostate""" 11 17 0 0 0.387290 0 0 SRMS 6725 broad.mit.edu 37 20 62178692 62178692 + Missense_Mutation SNP G G A TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr20:62178692G>A ENST00000217188.1 - 1 165 c.125C>T c.(124-126)cCc>cTc p.P42L NM_080823.2 NP_543013.1 Q9H3Y6 SRMS_HUMAN src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites 42 ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1) 19 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06) GGGGAGCGTGGGCACTGGGTC 0.697000 72 259 0 0 0.870114 0 0 ZNRD1-AS1 80862 broad.mit.edu 37 6 29977327 29977327 + RNA SNP T T C rs143365191 by1000genomes TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr6:29977327T>C ENST00000376797.3 - 0 731 HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA GACAGCTGCCTTGTGTGGGAC 0.438000 3 50 0 0 0.115264 0 0 TULP1 7287 broad.mit.edu 37 6 35479474 35479474 + Silent SNP G G A TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr6:35479474G>A ENST00000229771.6 - 4 379 c.300C>T c.(298-300)cgC>cgT p.R100R TULP1_ENST00000322263.4_Intron NM_003322.3 NP_003313.3 O00294 TULP1_HUMAN tubby like protein 1 100 dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse actin filament binding|phosphatidylinositol-4,5-bisphosphate binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 19 CCCGGGGGTCGCGCTTCTTGG 0.726000 4 7 0 0 0.184627 0 0 CLDN16 10686 broad.mit.edu 37 3 190127790 190127790 + Missense_Mutation SNP A A G TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr3:190127790A>G ENST00000264734.2 + 5 1131 c.883A>G c.(883-885)Acg>Gcg p.T295A CLDN16_ENST00000456423.1_3'UTR NM_006580.3 NP_006571.1 Q9Y5I7 CLD16_HUMAN claudin 16 295 calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion integral to membrane|tight junction identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1) 19 all_cancers(143;3.61e-10)|Ovarian(172;0.0991) Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05) GBM - Glioblastoma multiforme(93;0.018) TCGCACAGAGACGGCCAAAAT 0.433000 3 54 0 0 0.115264 0 0 CD55 1604 broad.mit.edu 37 1 207504538 207504538 + Silent SNP G G A TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr1:207504538G>A ENST00000367064.3 + 6 1008 c.750G>A c.(748-750)acG>acA p.T250T CD55_ENST00000465534.1_3'UTR|CD55_ENST00000391920.4_Silent_p.T250T|CD55_ENST00000367065.5_Silent_p.T250T|CD55_ENST00000367067.4_3'UTR|CD55_ENST00000314754.8_Silent_p.T250T|CD55_ENST00000367062.4_Silent_p.T250T|CD55_ENST00000391921.4_Silent_p.T186T|CD55_ENST00000367063.2_Silent_p.T250T NM_000574.3 NP_000565.1 P08174 DAF_HUMAN CD55 molecule, decay accelerating factor for complement (Cromer blood group) 250 Sushi 4. complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction receptor activity p.T250T(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 16 Chloramphenicol(DB00446) AGTCTGTAACGTATGCATGTA 0.383000 33 78 0 0 0.769981 0 0 ZMYND11 10771 broad.mit.edu 37 10 294963 294963 + Missense_Mutation SNP G G C TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr10:294963G>C ENST00000397962.3 + 14 2049 c.1621G>C c.(1621-1623)Gaa>Caa p.E541Q ZMYND11_ENST00000397959.3_Missense_Mutation_p.E456Q|ZMYND11_ENST00000381584.1_Missense_Mutation_p.E524Q|ZMYND11_ENST00000381607.4_Missense_Mutation_p.E447Q|ZMYND11_ENST00000602682.1_Missense_Mutation_p.E456Q|ZMYND11_ENST00000402736.1_Missense_Mutation_p.E510Q|ZMYND11_ENST00000381604.4_Missense_Mutation_p.E501Q|ZMYND11_ENST00000558098.2_Missense_Mutation_p.E541Q|ZMYND11_ENST00000381602.4_Missense_Mutation_p.E501Q|ZMYND11_ENST00000509513.2_Missense_Mutation_p.E540Q|ZMYND11_ENST00000545619.1_Missense_Mutation_p.E421Q|ZMYND11_ENST00000381591.1_Missense_Mutation_p.E541Q|ZMYND11_ENST00000535374.1_Missense_Mutation_p.E336Q|ZMYND11_ENST00000403354.1_Missense_Mutation_p.E461Q|ZMYND11_ENST00000309776.4_Missense_Mutation_p.E501Q Q15326 ZMY11_HUMAN zinc finger, MYND-type containing 11 501 cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2) 24 all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14) OV - Ovarian serous cystadenocarcinoma(33;0.132) Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106) AGAATTTGTAGAAGAAATCAA 0.388000 5 35 0 0 0.217242 0 0 XKR3 150165 broad.mit.edu 37 22 17288926 17288926 + Missense_Mutation SNP G G T TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr22:17288926G>T ENST00000331428.5 - 2 140 c.38C>A c.(37-39)aCa>aAa p.T13K NM_175878.3 NP_787074.2 Q5GH77 XKR3_HUMAN XK, Kell blood group complex subunit-related family, member 3 13 integral to membrane|plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) AACTCCTCCTGTGCTTTCTTC 0.408000 21 48 1.55795e-14 1.70811e-14 0.608945 1 0 HYDIN 54768 broad.mit.edu 37 16 71025263 71025263 + Silent SNP T T C TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr16:71025263T>C ENST00000393567.2 - 25 3972 c.3822A>G c.(3820-3822)gaA>gaG p.E1274E NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 1274 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) TTAGTTCTTTTTCTTCAGGCC 0.468000 23 28 0 0 0.654019 0 0 CPM 1368 broad.mit.edu 37 12 69264160 69264160 + Missense_Mutation SNP C C T TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr12:69264160C>T ENST00000551568.1 - 5 511 c.451G>A c.(451-453)Gac>Aac p.D151N CPM_ENST00000338356.3_Missense_Mutation_p.D151N|CPM_ENST00000546373.1_Missense_Mutation_p.D151N NM_001005502.2|NM_198320.3 NP_001005502.1|NP_938079.1 P14384 CBPM_HUMAN carboxypeptidase M 151 anatomical structure morphogenesis|proteolysis anchored to membrane|cytoplasm|nucleus|plasma membrane metallocarboxypeptidase activity|zinc ion binding large_intestine(1)|lung(6)|prostate(2) 9 all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06) all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143) CGATTCAAGTCATACTGGTTA 0.388000 23 24 0 0 0.667858 0 0 NRXN1 9378 broad.mit.edu 37 2 50280513 50280513 + Missense_Mutation SNP C C T TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr2:50280513C>T ENST00000404971.1 - 22 5483 c.4144G>A c.(4144-4146)Gcc>Acc p.A1382T NRXN1_ENST00000406316.2_Missense_Mutation_p.A1312T|NRXN1_ENST00000405472.3_Missense_Mutation_p.A1334T|NRXN1_ENST00000401669.2_Missense_Mutation_p.A1342T|NRXN1_ENST00000342183.5_Missense_Mutation_p.A277T|NRXN1_ENST00000401710.1_Missense_Mutation_p.A330T|NRXN1_ENST00000406859.3_Missense_Mutation_p.A1312T|NRXN1_ENST00000402717.3_Missense_Mutation_p.A1334T NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 1312 adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) GATTGCATGGCAGTGGCTGTT 0.498000 17 72 0 0 0.500413 0 0 GNB3 2784 broad.mit.edu 37 12 6954826 6954826 + Missense_Mutation SNP A A G TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr12:6954826A>G ENST00000229264.3 + 10 1181 c.776A>G c.(775-777)cAg>cGg p.Q259R CDCA3_ENST00000422785.3_3'UTR|GNB3_ENST00000435982.2_Missense_Mutation_p.Q258R|CDCA3_ENST00000604599.1_5'UTR NM_002075.2 NP_002066.1 P16520 GBB3_HUMAN guanine nucleotide binding protein (G protein), beta polypeptide 3 259 cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission plasma membrane GTPase activity|GTPase binding|signal transducer activity cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1) 20 CGGGCAGACCAGGAGCTGATC 0.617000 69 117 0 0 0.870114 0 0 DNAH11 8701 broad.mit.edu 37 7 21784487 21784487 + Splice_Site SNP G G T TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr7:21784487G>T ENST00000328843.6 + 52 8368 c.e52-1 DNAH11_ENST00000409508.3_Splice_Site Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 TCATCCTGCAGGGTATAGATA 0.493000 Kartagener syndrome 3 15 0.115264 0.116545 0.115264 1 0 SLC52A3 113278 broad.mit.edu 37 20 744434 744434 + Missense_Mutation SNP T T G TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr20:744434T>G ENST00000381944.3 - 3 1022 c.781A>C c.(781-783)Acc>Ccc p.T261P SLC52A3_ENST00000217254.7_Missense_Mutation_p.T261P|SLC52A3_ENST00000473664.1_Intron Q9NQ40 RFT2_HUMAN solute carrier family 52 (riboflavin transporter), member 3 261 sensory perception of sound integral to plasma membrane riboflavin transporter activity GAGTGGAGGGTGACCTGGTCA 0.622000 7 56 0 0 0.387290 0 0 PPP2R3A 5523 broad.mit.edu 37 3 135722254 135722254 + Silent SNP A A T TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr3:135722254A>T ENST00000264977.3 + 2 2531 c.1914A>T c.(1912-1914)tcA>tcT p.S638S PPP2R3A_ENST00000490467.1_Intron NM_001190447.1|NM_002718.4 NP_001177376.1|NP_002709.2 Q06190 P2R3A_HUMAN protein phosphatase 2, regulatory subunit B'', alpha 638 protein dephosphorylation protein phosphatase type 2A complex calcium ion binding|protein binding|protein phosphatase type 2A regulator activity breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 CCAATTTATCAGTCTGTAGAA 0.413000 21 72 0 0 0.575678 0 0 TUBA1B 10376 broad.mit.edu 37 12 49522572 49522572 + Silent SNP G G A TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr12:49522572G>A ENST00000336023.5 - 4 619 c.525C>T c.(523-525)ccC>ccT p.P175P RP11-386G11.10_ENST00000547387.1_RNA|RP11-386G11.10_ENST00000548149.1_RNA NM_006082.2 NP_006073.2 P68363 TBA1B_HUMAN tubulin, alpha 1b 175 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4) 12 TGGAAACCTGGGGTGCTGGGT 0.537000 4 27 0 0 0.335167 0 0 TLN2 83660 broad.mit.edu 37 15 63054621 63054621 + Missense_Mutation SNP G G A TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr15:63054621G>A ENST00000561311.1 + 38 5160 c.4930G>A c.(4930-4932)Gac>Aac p.D1644N TLN2_ENST00000472902.1_Missense_Mutation_p.D37N|TLN2_ENST00000306829.6_Missense_Mutation_p.D1644N Q9Y4G6 TLN2_HUMAN talin 2 1644 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton p.D1644N(2) NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 TACAGTGTCCGACTCCATCAA 0.557000 39 91 0 0 0.804634 0 0 FSCB 84075 broad.mit.edu 37 14 44975348 44975348 + Silent SNP C C T TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr14:44975348C>T ENST00000340446.4 - 1 1134 c.843G>A c.(841-843)gcG>gcA p.A281A NM_032135.3 NP_115511.3 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 281 cilium breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 89 GBM - Glioblastoma multiforme(112;0.128) GTCTGGGCTCCGCTTTAGCAG 0.478000 18 40 0 0 0.557998 0 0 SPATA31D5P 347127 broad.mit.edu 37 9 84531710 84531710 + RNA SNP C C T TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr9:84531710C>T ENST00000527857.1 + 0 1732 NR_026851.1 CCTCTACCCTCGCCTCAAACC 0.512000 8 17 0 0 0.307466 0 0 IRX6 79190 broad.mit.edu 37 16 55360387 55360387 + Missense_Mutation SNP C C T TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr16:55360387C>T ENST00000290552.7 + 2 1517 c.185C>T c.(184-186)cCg>cTg p.P62L RP11-26L20.3_ENST00000558730.2_RNA|IRX6_ENST00000558315.1_3'UTR NM_024335.2 NP_077311.2 P78412 IRX6_HUMAN iroquois homeobox 6 62 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 AGTGCGCGACCGGAGCTGGGC 0.667000 7 23 0 0 0.248553 0 0 CLUH 23277 broad.mit.edu 37 17 2598736 2598736 + Missense_Mutation SNP G G A TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr17:2598736G>A ENST00000570628.1 - 14 2464 c.2359C>T c.(2359-2361)Cgc>Tgc p.R787C CLUH_ENST00000575014.1_Missense_Mutation_p.R720C|CLUH_ENST00000435359.1_Missense_Mutation_p.R787C|CLUH_ENST00000538975.1_Missense_Mutation_p.R787C clustered mitochondria (cluA/CLU1) homolog CCCAGGTAGCGCATGTTGATG 0.697000 18 41 0 0 0.539581 0 0 RNF25 64320 broad.mit.edu 37 2 219529928 219529928 + Missense_Mutation SNP C C T TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr2:219529928C>T ENST00000295704.2 - 8 1056 c.616G>A c.(616-618)Gtg>Atg p.V206M NM_022453.2 NP_071898.2 Q96BH1 RNF25_HUMAN ring finger protein 25 206 positive regulation of NF-kappaB transcription factor activity cytosol|nucleus NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 24 Renal(207;0.0474) Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGATCATACACGAGGGGCTCT 0.498000 6 20 0 0 0.278610 0 0 ZNF71 58491 broad.mit.edu 37 19 57132791 57132791 + Nonsense_Mutation SNP G G T TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr19:57132791G>T ENST00000328070.6 + 3 370 c.136G>T c.(136-138)Gag>Tag p.E46* NM_021216.4 NP_067039.1 Q9NQZ8 ZNF71_HUMAN zinc finger protein 71 46 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 26 GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18) CAGCTGGCCAGAGAGGCCGCG 0.617000 8 28 0.0477658 0.0488391 0.307466 1 0 OR2T11 127077 broad.mit.edu 37 1 248789870 248789870 + Missense_Mutation SNP G G T TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr1:248789870G>T ENST00000330803.2 - 1 621 c.560C>A c.(559-561)gCa>gAa p.A187E NM_001001964.1 NP_001001964.1 Q8NH01 O2T11_HUMAN olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene) 187 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(5)|lung(20)|skin(2) 28 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GGACGTGTCTGCACAGGCCAG 0.468000 16 72 2.35188e-11 2.54787e-11 0.539581 1 0 ZNRD1-AS1 80862 broad.mit.edu 37 6 29977342 29977342 + RNA SNP A A T rs116382006 by1000genomes TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr6:29977342A>T ENST00000376797.3 - 0 731 HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA TGGGACTGAGAGGCAAGATTT 0.438000 3 47 0 0 0.115264 0 0 KIAA1468 57614 broad.mit.edu 37 18 59928798 59928798 + Missense_Mutation SNP C C A TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr18:59928798C>A ENST00000256858.6 + 16 2505 c.2257C>A c.(2257-2259)Cag>Aag p.Q753K KIAA1468_ENST00000398130.2_Missense_Mutation_p.Q753K Q9P260 K1468_HUMAN KIAA1468 753 binding p.Q753K(1) autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 47 Colorectal(73;0.186) TTCTGCCTTGCAGTCCTTGAT 0.433000 10 36 3.86212e-05 4.03969e-05 0.361761 1 0 ZNF560 147741 broad.mit.edu 37 19 9579792 9579792 + Missense_Mutation SNP C C A TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr19:9579792C>A ENST00000301480.4 - 9 814 c.601G>T c.(601-603)Ggg>Tgg p.G201W NM_152476.2 NP_689689.2 Q96MR9 ZN560_HUMAN zinc finger protein 560 201 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 65 AACTGTATCCCATTTAATGTT 0.343000 3 14 0.004672 0.00483127 0.115264 1 0 PRODH2 58510 broad.mit.edu 37 19 36303355 36303355 + Missense_Mutation SNP A A C TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr19:36303355A>C ENST00000301175.3 - 3 523 c.506T>G c.(505-507)gTg>gGg p.V169G NM_021232.1 NP_067055.1 Q9UF12 PROD2_HUMAN proline dehydrogenase (oxidase) 2 169 glutamate biosynthetic process|proline catabolic process proline dehydrogenase activity haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GCAGCCCTTCACCTCCTCTGC 0.647000 6 27 0 0 0.307466 0 0 LRRC8A 56262 broad.mit.edu 37 9 131678563 131678563 + Silent SNP C C T rs139232646 TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr9:131678563C>T ENST00000259324.5 + 4 2869 c.2346C>T c.(2344-2346)agC>agT p.S782S LRRC8A_ENST00000492784.1_3'UTR|LRRC8A_ENST00000372599.3_Silent_p.S782S|LRRC8A_ENST00000372600.4_Silent_p.S782S NM_001127244.1 NP_001120716.1 Q8IWT6 LRC8A_HUMAN leucine rich repeat containing 8 family, member A 782 pre-B cell differentiation integral to membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3) 28 TCAAGCGCAGCGGCTTGGTGG 0.682000 6 12 0 0 0.248553 0 0 POLQ 10721 broad.mit.edu 37 3 121207697 121207697 + Nonsense_Mutation SNP G G A TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr3:121207697G>A ENST00000264233.5 - 16 4209 c.4081C>T c.(4081-4083)Cag>Tag p.Q1361* NM_199420.3 NP_955452.3 O75417 DPOLQ_HUMAN polymerase (DNA directed), theta 1361 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity p.Q1496*(1) NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) ATTGAGTTCTGTTGGACTAAG 0.438000 DNA polymerases (catalytic subunits) 25 153 0 0 0.654019 0 0 CNGA3 1261 broad.mit.edu 37 2 99013496 99013496 + Silent SNP G G A TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr2:99013496G>A ENST00000393504.1 + 8 2280 c.1863G>A c.(1861-1863)gcG>gcA p.A621A CNGA3_ENST00000272602.2_Silent_p.A621A|CNGA3_ENST00000436404.2_Silent_p.A603A|CNGA3_ENST00000409937.1_Silent_p.A625A NM_001298.2 NP_001289.1 Q16281 CNGA3_HUMAN cyclic nucleotide gated channel alpha 3 621 signal transduction|visual perception integral to membrane cGMP binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3) 49 GGGCGGGCGCGGACCCCAAGG 0.622000 31 19 0 0 0.750413 0 0 AXDND1 126859 broad.mit.edu 37 1 179497484 179497484 + Missense_Mutation SNP A A T TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr1:179497484A>T ENST00000367618.3 + 23 3020 c.2633A>T c.(2632-2634)aAg>aTg p.K878M NM_144696.4 NP_653297.3 Q5T1B0 AXDN1_HUMAN axonemal dynein light chain domain containing 1 878 Glu-rich. p.K878M(1) NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 59 TCTACAGAGAAGGAAAAACTC 0.428000 13 38 0 0 0.435327 0 0 PDLIM2 64236 broad.mit.edu 37 8 22438929 22438929 + Missense_Mutation SNP G G A TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr8:22438929G>A ENST00000265810.4 + 2 246 c.131G>A c.(130-132)cGg>cAg p.R44Q PDLIM2_ENST00000397761.2_Missense_Mutation_p.R44Q|PDLIM2_ENST00000339162.7_Missense_Mutation_p.R44Q|PDLIM2_ENST00000308354.7_Missense_Mutation_p.R294Q|PDLIM2_ENST00000409417.1_Missense_Mutation_p.R44Q|PDLIM2_ENST00000397760.4_Missense_Mutation_p.R44Q|PDLIM2_ENST00000409141.1_Missense_Mutation_p.R44Q NM_176871.3 NP_789847.1 Q96JY6 PDLI2_HUMAN PDZ and LIM domain 2 (mystique) 44 PDZ. actin cytoskeleton|cell surface|cytoplasm|focal adhesion|nucleus zinc ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1) 9 Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142) BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626) GCTGACCTCCGGCCTGGAGAC 0.662000 6 9 0 0 0.248553 0 0 BMS1 9790 broad.mit.edu 37 10 43316394 43316394 + Missense_Mutation SNP C C T TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr10:43316394C>T ENST00000374518.4 + 18 3026 c.2963C>T c.(2962-2964)cCa>cTa p.P988L NM_014753.3 NP_055568.3 Q14692 BMS1_HUMAN BMS1 ribosome biogenesis factor 988 ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 CCTATCACTCCACAGGGAACT 0.358000 30 23 0 0 0.769981 0 0 SKIDA1 387640 broad.mit.edu 37 10 21804807 21804807 + Missense_Mutation SNP G G A TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr10:21804807G>A ENST00000449193.2 - 4 4197 c.1945C>T c.(1945-1947)Ccc>Tcc p.P649S SKIDA1_ENST00000444772.3_Missense_Mutation_p.P570S NM_207371.3 NP_997254.3 SKI/DACH domain containing 1 TGCGAAGAGGGCAAATCCGTA 0.438000 3 40 0 0 0.150653 0 0 PLXNB2 23654 broad.mit.edu 37 22 50720458 50720458 + Missense_Mutation SNP G G A TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr22:50720458G>A ENST00000449103.1 - 20 3310 c.3170C>T c.(3169-3171)tCc>tTc p.S1057F PLXNB2_ENST00000359337.4_Missense_Mutation_p.S1057F O15031 PLXB2_HUMAN plexin B2 1057 IPT/TIG 3. regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CACAGCCGGGGACAGGAAGAC 0.647000 7 21 0 0 0.278610 0 0 MAP4 4134 broad.mit.edu 37 3 47912432 47912432 + Silent SNP C C T rs146957827 TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr3:47912432C>T ENST00000426837.2 - 15 6252 c.6165G>A c.(6163-6165)tcG>tcA p.S2055S MAP4_ENST00000360240.6_Silent_p.S910S|MAP4_ENST00000441748.2_Silent_p.S62S|MAP4_ENST00000395734.3_Silent_p.S910S|MAP4_ENST00000383737.4_Silent_p.S638S|MAP4_ENST00000264724.11_Silent_p.S645S|MAP4_ENST00000420772.2_Silent_p.S641S P27816 MAP4_HUMAN microtubule-associated protein 4 910 negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2) 32 BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736) TGGGTTTGGCCGAGGTGGGCT 0.632000 27 39 0 0 0.729181 0 0 RBM43 375287 broad.mit.edu 37 2 152112091 152112091 + Missense_Mutation SNP G G A TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr2:152112091G>A ENST00000331426.5 - 2 321 c.170C>T c.(169-171)aCa>aTa p.T57I NM_198557.2 NP_940959.1 Q6ZSC3 RBM43_HUMAN RNA binding motif protein 43 57 RRM. nucleotide binding|RNA binding endometrium(2)|large_intestine(3)|lung(2)|ovary(1) 8 BRCA - Breast invasive adenocarcinoma(221;0.131) CTTGGTTCTTGTCGGATATAT 0.318000 45 63 0 0 0.870114 0 0 TP53 7157 broad.mit.edu 37 17 7577094 7577094 + Missense_Mutation SNP G G A rs28934574 TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr17:7577094G>A ENST00000420246.2 - 8 976 c.844C>T c.(844-846)Cgg>Tgg p.R282W TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000269305.4_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000445888.2_Missense_Mutation_p.R282W NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 282 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TCTGTGCGCCGGTCTCTCCCA 0.557000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 28 4 0 0 0.693898 0 0 SEC14L2 23541 broad.mit.edu 37 22 30803469 30803469 + Silent SNP C C T rs144595900 byFrequency TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr22:30803469C>T ENST00000312932.9 + 5 560 c.300C>T c.(298-300)taC>taT p.Y100Y SEC14L2_ENST00000403484.1_Silent_p.Y26Y|SEC14L2_ENST00000402592.3_Intron|SEC14L2_ENST00000459728.1_3'UTR|SEC14L2_ENST00000405717.3_Silent_p.Y100Y NM_012429.3 NP_036561.1 O76054 S14L2_HUMAN SEC14-like 2 (S. cerevisiae) 100 CRAL-TRIO. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus phospholipid binding|transporter activity|vitamin E binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1) 10 Vitamin E(DB00163) CAGTCTGGTACGACATAATTG 0.557000 40 82 0 0 0.853193 0 0 AHSA1 10598 broad.mit.edu 37 14 77926055 77926055 + Silent SNP G G A rs146186794 byFrequency TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr14:77926055G>A ENST00000216479.3 + 2 337 c.177G>A c.(175-177)acG>acA p.T59T AHSA1_ENST00000555517.1_Silent_p.T59T|AHSA1_ENST00000535854.2_Silent_p.T59T NM_012111.2 NP_036243.1 O95433 AHSA1_HUMAN AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast) 59 protein folding|response to stress cytosol|endoplasmic reticulum ATPase activator activity|chaperone binding endometrium(1)|kidney(3)|large_intestine(1)|prostate(1)|skin(1)|stomach(1) 8 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0281) GTGAGGTGACGGAAGTGAGTA 0.448000 74 56 0 0 0.870114 0 0 SETDB1 9869 broad.mit.edu 37 1 150923168 150923168 + Silent SNP A A G TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr1:150923168A>G ENST00000271640.5 + 13 2005 c.1815A>G c.(1813-1815)ctA>ctG p.L605L SETDB1_ENST00000368969.4_Silent_p.L605L|SETDB1_ENST00000459773.1_Intron NM_001145415.1|NM_012432.3 NP_001138887.1|NP_036564.3 Q15047 SETB1_HUMAN SET domain, bifurcated 1 605 MBD. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|Golgi apparatus|nucleus|plasma membrane DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 12 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211) TCCCGTTACTATATGACTTCC 0.517000 37 38 0 0 0.804634 0 0 PLA2G4C 8605 broad.mit.edu 37 19 48578033 48578033 + Missense_Mutation SNP C C T TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr19:48578033C>T ENST00000354276.3 - 12 1324 c.997G>A c.(997-999)Gaa>Aaa p.E333K PLA2G4C_ENST00000599921.1_Missense_Mutation_p.E333K|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.E343K|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.E333K NM_001159323.1 NP_001152795.1 Q9UP65 PA24C_HUMAN phospholipase A2, group IVC (cytosolic, calcium-independent) 333 PLA2c. arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition cytosol|membrane calcium-independent phospholipase A2 activity|phospholipid binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3) 38 all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717) CCTTTCCTTTCGGGGTCCTCA 0.562000 39 125 0 0 0.847076 0 0 ASPM 259266 broad.mit.edu 37 1 197111689 197111689 + Missense_Mutation SNP A A T TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr1:197111689A>T ENST00000367409.4 - 3 1949 c.1693T>A c.(1693-1695)Tct>Act p.S565T ASPM_ENST00000294732.7_Missense_Mutation_p.S565T NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 565 mitosis cytoplasm|nucleus calmodulin binding breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 GTTGTCGAAGAGGGTGTTACC 0.343000 27 83 0 0 0.667858 0 0 SLC22A16 85413 broad.mit.edu 37 6 110777895 110777895 + Missense_Mutation SNP C C T TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr6:110777895C>T ENST00000368919.3 - 2 445 c.379G>A c.(379-381)Gat>Aat p.D127N SLC22A16_ENST00000439654.1_Missense_Mutation_p.D127N|SLC22A16_ENST00000456137.2_Missense_Mutation_p.D127N|SLC22A16_ENST00000330550.4_Missense_Mutation_p.D93N|SLC22A16_ENST00000461487.1_5'UTR NM_033125.3 NP_149116.2 Q86VW1 S22AG_HUMAN solute carrier family 22 (organic cation/carnitine transporter), member 16 127 acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis integral to membrane carnitine transporter activity breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101) OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115) ATGTAGCCATCCACACAAGGA 0.488000 55 77 0 0 0.870114 0 0 TRIO 7204 broad.mit.edu 37 5 14378176 14378176 + Missense_Mutation SNP G G A TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr5:14378176G>A ENST00000344204.4 + 20 3411 c.3387G>A c.(3385-3387)atG>atA p.M1129I TRIO_ENST00000509967.2_Missense_Mutation_p.M1080I|TRIO_ENST00000537187.1_Missense_Mutation_p.M1129I NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 1129 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity p.M1129I(1) NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) ACTGGACCATGAGGAAGAGAC 0.493000 4 8 0 0 0.150653 0 0 FJX1 24147 broad.mit.edu 37 11 35641069 35641069 + Silent SNP C C T rs77030854 TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr11:35641069C>T ENST00000317811.4 + 1 1335 c.885C>T c.(883-885)ttC>ttT p.F295F NM_014344.3 NP_055159.2 Q86VR8 FJX1_HUMAN four jointed box 1 (Drosophila) 295 extracellular space lung(1)|urinary_tract(1) 2 all_cancers(35;0.177)|all_lung(20;0.0238)|Lung NSC(22;0.0494)|all_epithelial(35;0.0739) all_hematologic(20;0.107) TAATCCTTTTCGACTACCTGA 0.647000 7 38 0 0 0.361761 0 0 PTPRN 5798 broad.mit.edu 37 2 220164844 220164844 + Silent SNP G G A TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr2:220164844G>A ENST00000295718.2 - 9 1539 c.1299C>T c.(1297-1299)ccC>ccT p.P433P PTPRN_ENST00000423636.2_Silent_p.P343P|PTPRN_ENST00000409251.3_Silent_p.P433P|AC114803.3_ENST00000417355.1_RNA NM_002846.3 NP_002837.1 Q16849 PTPRN_HUMAN protein tyrosine phosphatase, receptor type, N 433 response to reactive oxygen species integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Renal(207;0.0474) Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875) TGGCAGCTTTGGGAGGCTCAG 0.652000 31 52 0 0 0.769981 0 0 FOXB2 442425 broad.mit.edu 37 9 79635500 79635500 + Silent SNP C C T TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr9:79635500C>T ENST00000376708.1 + 1 930 c.930C>T c.(928-930)gtC>gtT p.V310V NM_001013735.1 NP_001013757.1 Q5VYV0 FOXB2_HUMAN forkhead box B2 310 brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|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 breast(1)|lung(8)|ovary(1) 10 GCAACGTCGTCAGCTCCGTGT 0.721000 6 9 0 0 0.217242 0 0 RNASE13 440163 broad.mit.edu 37 14 21502302 21502302 + Missense_Mutation SNP C C T rs146892669 by1000genomes TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr14:21502302C>T ENST00000382951.3 - 2 283 c.146G>A c.(145-147)cGg>cAg p.R49Q NDRG2_ENST00000403829.3_Intron NM_001012264.3 NP_001012264.1 Q5GAN3 RNS13_HUMAN ribonuclease, RNase A family, 13 (non-active) 49 extracellular region nucleic acid binding|pancreatic ribonuclease activity p.R49Q(1) cervix(1)|endometrium(1)|lung(5)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 12 all_cancers(95;0.000759) OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08) GBM - Glioblastoma multiforme(265;0.019) ACAATAGCCCCGGAAACCCTT 0.468000 78 44 0 0 0.870114 0 0 SH3RF3 344558 broad.mit.edu 37 2 109964267 109964267 + Silent SNP C C T TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr2:109964267C>T ENST00000309415.6 + 2 711 c.711C>T c.(709-711)caC>caT p.H237H NM_001099289.1 NP_001092759.1 Q8TEJ3 SH3R3_HUMAN SH3 domain containing ring finger 3 237 SH3 1. zinc ion binding endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2) 18 GCGAGCTGCACGGCACACAGG 0.587000 6 20 0 0 0.217242 0 0 C2CD2 25966 broad.mit.edu 37 21 43327154 43327154 + Missense_Mutation SNP G G A TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr21:43327154G>A ENST00000380486.3 - 10 1506 c.1265C>T c.(1264-1266)gCt>gTt p.A422V C2CD2_ENST00000329623.7_Missense_Mutation_p.A267V NM_015500.1 NP_056315.1 Q9Y426 CU025_HUMAN C2 calcium-dependent domain containing 2 422 cytosol|extracellular region|nucleus endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1) 15 GGTCTTCACAGCAGTGACAGT 0.582000 15 27 0 0 0.457914 0 0 PRKDC 5591 broad.mit.edu 37 8 48852134 48852134 + Missense_Mutation SNP G G A TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr8:48852134G>A ENST00000314191.2 - 11 1146 c.1090C>T c.(1090-1092)Cgt>Tgt p.R364C PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.R364C NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 364 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) CCATATCCACGGATAGCAATA 0.338000 Non-homologous end-joining 28 87 0 0 0.740014 0 0 STK38 11329 broad.mit.edu 37 6 36485513 36485513 + Missense_Mutation SNP G G C TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr6:36485513G>C ENST00000229812.7 - 6 780 c.495C>G c.(493-495)atC>atG p.I165M NM_007271.2 NP_009202.1 Q15208 STK38_HUMAN serine/threonine kinase 38 165 Protein kinase. intracellular protein kinase cascade|negative regulation of MAP kinase activity cytoplasm|MLL5-L complex ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity p.I165M(1) NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 GGAACTCCATGATTAGGTAGA 0.423000 21 56 0 0 0.624587 0 0 HSF5 124535 broad.mit.edu 37 17 56536136 56536136 + Silent SNP C C T TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr17:56536136C>T ENST00000323777.3 - 5 1822 c.1713G>A c.(1711-1713)aaG>aaA p.K571K NM_001080439.1 NP_001073908.1 Q4G112 HSF5_HUMAN heat shock transcription factor family member 5 571 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1) 16 Medulloblastoma(34;0.127)|all_neural(34;0.237) TACCAGGGGACTTTCCTTGTT 0.418000 16 28 0 0 0.500413 0 0 FOCAD 54914 broad.mit.edu 37 9 20944734 20944734 + Silent SNP C C T TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr9:20944734C>T ENST00000380249.1 + 31 3880 c.3516C>T c.(3514-3516)caC>caT p.H1172H FOCAD_ENST00000338382.6_Silent_p.H1172H|FOCAD_ENST00000605086.1_Silent_p.H608H NM_017794.3 NP_060264.3 Q5VW36 K1797_HUMAN focadhesin 1172 integral to membrane binding TGTCTGCGCACGTAGATGACA 0.512000 10 20 0 0 0.387290 0 0 PRSS54 221191 broad.mit.edu 37 16 58324903 58324903 + Missense_Mutation SNP C C T rs142664927 byFrequency TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr16:58324903C>T ENST00000219301.4 - 4 617 c.223G>A c.(223-225)Gag>Aag p.E75K PRSS54_ENST00000543437.1_Intron|PRSS54_ENST00000567164.1_Missense_Mutation_p.E75K NM_001080492.1 NP_001073961.1 Q6PEW0 PRS54_HUMAN protease, serine, 54 75 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity p.E75K(1) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 ACCCAGAACTCGCTCAGGATG 0.647000 15 54 0 0 0.479597 0 0 GOLGA2P9 440518 broad.mit.edu 37 19 22785506 22785506 + RNA SNP C C T TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr19:22785506C>T ENST00000600260.1 + 0 1595 NR_033899.1 CAGACACCATCGGTGAGGCGG 0.622000 31 76 0 0 0.804634 0 0 PTCH2 8643 broad.mit.edu 37 1 45292686 45292686 + Silent SNP G G T TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr1:45292686G>T ENST00000447098.2 - 17 2594 c.2583C>A c.(2581-2583)acC>acA p.T861T PTCH2_ENST00000372192.3_Silent_p.T861T NM_001166292.1 NP_001159764.1 Q9Y6C5 PTC2_HUMAN patched 2 861 protein complex assembly|spermatogenesis integral to plasma membrane hedgehog receptor activity NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 50 Acute lymphoblastic leukemia(166;0.155) TCACCCACACGGTCAGCCCCA 0.622000 Basal Cell Nevus syndrome 39 189 4.14481e-20 4.59973e-20 0.819951 1 0 TBP 6908 broad.mit.edu 37 6 170871082 170871082 + Silent SNP G G A TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr6:170871082G>A ENST00000392092.2 + 3 537 c.258G>A c.(256-258)caG>caA p.Q86Q TBP_ENST00000540980.1_Silent_p.Q66Q|TBP_ENST00000230354.6_Silent_p.Q86Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 86 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding p.Q86Q(2) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcagcagcagcagcagcagc 0.612000 3 19 0 0 0.115264 0 0 PAX1 5075 broad.mit.edu 37 20 21695343 21695343 + Missense_Mutation SNP C C T TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr20:21695343C>T ENST00000398485.2 + 5 1561 c.1507C>T c.(1507-1509)Cgc>Tgc p.R503C PAX1_ENST00000444366.2_3'UTR NM_001257096.1|NM_006192.4 NP_001244025.1|NP_006183.2 P15863 PAX1_HUMAN paired box 1 503 regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter nucleus DNA binding autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 38 GCGGGGTGCACGCCCAGCCAG 0.682000 5 22 0 0 0.184627 0 0 ZNF816 125893 broad.mit.edu 37 19 53453768 53453768 + Silent SNP A A T TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr19:53453768A>T ENST00000357666.4 - 5 1560 c.1260T>A c.(1258-1260)acT>acA p.T420T ZNF816_ENST00000434371.2_Intron|ZNF816_ENST00000444460.2_Silent_p.T420T|ZNF321P_ENST00000391777.3_Intron NM_001031665.2 NP_001026835.1 Q0VGE8 ZN816_HUMAN zinc finger protein 816 420 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2) 27 ATCCCTCTCCAGTATGAATCT 0.388000 50 38 0 0 0.870114 0 0 RGAG4 340526 broad.mit.edu 37 X 71350464 71350464 + Missense_Mutation SNP T T G TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chrX:71350464T>G ENST00000545866.1 - 1 1294 c.927A>C c.(925-927)agA>agC p.R309S NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000479991.1_Missense_Mutation_p.R309S Q5HYW3 RGAG4_HUMAN retrotransposon gag domain containing 4 309 cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1) 24 Renal(35;0.156) CGCGCACTTTTCTTTCTATCT 0.483000 40 74 0 0 0.834066 0 0 HJURP 55355 broad.mit.edu 37 2 234750497 234750497 + Frame_Shift_Del DEL C C - TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr2:234750497delC ENST00000411486.2 - 8 994 c.929delG c.(928-930)tcfs p.C310fs HJURP_ENST00000432087.1_Frame_Shift_Del_p.C256fs|HJURP_ENST00000441687.1_Frame_Shift_Del_p.C225fs NM_018410.3 NP_060880.3 Q8NCD3 HJURP_HUMAN Holliday junction recognition protein 310 cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm DNA binding|histone binding NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128) Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829) GGCTCCTTTGCAATATGTTTT 0.468 10 23 --- --- --- --- CLDN22 53842 broad.mit.edu 37 4 184241208 184241209 + Frame_Shift_Del DEL AC AC - TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr4:184241208_184241209delAC ENST00000323319.5 - 1 718_719 c.163_164delGT c.(163-165)cfs p.V55fs WWC2_ENST00000403733.3_3'UTR NM_001111319.1 NP_001104789.1 Q8N7P3 CLD22_HUMAN claudin 22 55 calcium-independent cell-cell adhesion|tight junction assembly integral to membrane|tight junction identical protein binding|structural molecule activity cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(1) 7 all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.0172)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|Esophageal squamous(56;0.176) all cancers(43;4.1e-26)|Epithelial(43;6.45e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|Colorectal(24;5.87e-06)|GBM - Glioblastoma multiforme(59;6.5e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155) CTCTTGGATGACACAGGTTTGC 0.465 23 37 --- --- --- --- HLA-B 3106 broad.mit.edu 37 6 31322969 31322970 + Frame_Shift_Del DEL CA CA - TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr6:31322969_31322970delCA ENST00000412585.2 - 5 954_955 c.926_927delTG c.(925-927)gfs p.V309fs NM_005514.6 NP_005505.2 major histocompatibility complex, class I, B endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2) 27 CAACAATGCCCACGATGGGGAC 0.589 Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of 20 32 --- --- --- --- TNRC18 84629 broad.mit.edu 37 7 5353056 5353057 + Frame_Shift_Ins INS - - C TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr7:5353056_5353057insC ENST00000399537.4 - 27 7813_7814 c.7465_7466insG c.(7465-7467)gggfs p.G2489fs TNRC18_ENST00000430969.1_Frame_Shift_Ins_p.G2489fs O15417 TNC18_HUMAN trinucleotide repeat containing 18 2489 DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8) 11 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) CCAGCCCCCCGCCCCCGGATCC 0.688 5 9 --- --- --- --- CDKN2A 1029 broad.mit.edu 37 9 21974755 21974758 + Frame_Shift_Del DEL CCGA CCGA - rs104894097 TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr9:21974755_21974758delCCGA ENST00000304494.5 - 1 339_342 c.69_72delTCGG c.(67-72)ggfs p.GR23fs CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.GR23fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.GR23fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.GR23fs NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 23 G -> D (in a pancreas tumor and a melanoma; loss of CDK4 binding). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(23)|p.R24P(2)|p.0(1)|p.R24fs*20(1)|p.R22fs*14(1)|p.G23G(1)|p.R24Q(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CCTCCTCTACCCGACCCCGGGCCG 0.740 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 11 17 --- --- --- --- MYBPC3 4607 broad.mit.edu 37 11 47354867 47354867 + Frame_Shift_Del DEL G G - TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr11:47354867delG ENST00000399249.2 - 29 3262 c.3208delC c.(3208-3210)agfs p.Q1070fs MYBPC3_ENST00000256993.4_Frame_Shift_Del_p.Q1069fs|MYBPC3_ENST00000545968.1_Frame_Shift_Del_p.Q1070fs Q14896 MYPC3_HUMAN myosin binding protein C, cardiac 1069 Fibronectin type-III 3. cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis C zone|cytosol|striated muscle myosin thick filament actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2) 42 Lung(87;0.176) CGGAGATCCTGGGGAGGACTT 0.637 2 4 --- --- --- --- ARAP1 116985 broad.mit.edu 37 11 72412741 72412741 + Frame_Shift_Del DEL T T - TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr11:72412741delT ENST00000359373.5 - 16 3106 c.2255delA c.(2254-2256)agfs p.K752fs ARAP1_ENST00000426523.1_Frame_Shift_Del_p.K507fs|ARAP1_ENST00000429686.1_Frame_Shift_Del_p.K446fs|ARAP1_ENST00000334211.8_Frame_Shift_Del_p.K507fs|ARAP1_ENST00000393605.3_Frame_Shift_Del_p.K512fs|ARAP1_ENST00000455638.2_Frame_Shift_Del_p.K752fs|ARAP1_ENST00000393609.3_Frame_Shift_Del_p.K752fs|ARAP1-AS2_ENST00000500163.2_RNA Q96P48 ARAP1_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 752 PH 3. actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction cytosol|Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1) 27 AGAGGCAGTCTTGTAGAGGAA 0.627 279 195 --- --- --- --- ANKRD49 54851 broad.mit.edu 37 11 94230120 94230120 + Frame_Shift_Del DEL A A - TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr11:94230120delA ENST00000544253.1 + 2 379 c.261delA c.(259-261)gtfs p.V87fs ANKRD49_ENST00000302755.4_Intron|ANKRD49_ENST00000540349.1_Frame_Shift_Del_p.V87fs|ANKRD49_ENST00000544612.1_Intron Q8WVL7 ANR49_HUMAN ankyrin repeat domain 49 87 positive regulation of transcription, DNA-dependent autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1) 12 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) AAAATCGGGTAAAAAAAAAAA 0.393 13 414 --- --- --- --- CDC42BPB 9578 broad.mit.edu 37 14 103452874 103452875 + In_Frame_Ins INS - - TCA TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr14:103452874_103452875insTCA ENST00000361246.2 - 6 927_928 c.639_640insTGA c.(637-642)catccg>caTGAtccg p.213_214HP>HDP NM_006035.3 NP_006026.3 Q9Y5S2 MRCKB_HUMAN CDC42 binding protein kinase beta (DMPK-like) 213 Protein kinase. actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm|cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 49 Melanoma(154;0.155) Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199) GCCAGGCGGATATGACCATTCA 0.376 87 69 --- --- --- --- NFIC 4782 broad.mit.edu 37 19 3453868 3453869 + Frame_Shift_Ins INS - - C rs150025045 by1000genomes TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx b848fbad-1eb3-4bc2-9006-2d0ca559cee8 1c5d37a1-9387-42cb-9d2f-623b97247fad g.chr19:3453868_3453869insC ENST00000589123.1 + 9 1470_1471 c.1350_1351insC c.(1348-1353)aaccgcfs p.R451fs NFIC_ENST00000590282.1_Intron|NFIC_ENST00000586919.1_Intron|NFIC_ENST00000443272.2_Frame_Shift_Ins_p.R460fs|NFIC_ENST00000346156.5_Intron|NFIC_ENST00000341919.3_Intron|NFIC_ENST00000395111.3_Intron NM_001245005.1|NM_205843.2 NP_001231934.1|NP_995315.1 P08651 NFIC_HUMAN nuclear factor I/C (CCAAT-binding transcription factor) 460 DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191) CTGCCACCAAACCCGCCACCAC 0.698 2 4 --- --- --- ---