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 validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut PARP4 143 broad.mit.edu 37 13 25005568 25005568 + Missense_Mutation SNP A C C TCGA-D3-A51K-06A-11D-A25O-08 TCGA-D3-A51K-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B76091B-1C54-4BF8-8943-3D68FE5C7251 CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC g.chr13:25005568A>C uc001upl.3 - 31 4899 c.4793T>G c.(4792-4794)cTt>cGt p.L1598R NM_006437 NP_006428 Q9UKK3 PARP4_HUMAN Homo sapiens poly (ADP-ribose) polymerase family, member 4 (PARP4), mRNA. 1598 Interaction with the major vault protein. DNA repair|cell death|inflammatory response|protein ADP-ribosylation|response to drug|transport cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule DNA binding|NAD+ ADP-ribosyltransferase activity|enzyme binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195) ATTTGTATTAAGATTTAATAT 0.289000 11 33 0 0 1 0 0 WDR13 64743 broad.mit.edu 37 X 48458075 48458075 + Missense_Mutation SNP C G G TCGA-D3-A51K-06A-11D-A25O-08 TCGA-D3-A51K-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B76091B-1C54-4BF8-8943-3D68FE5C7251 CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC g.chrX:48458075C>G uc004dkj.2 + 3 998 c.493C>G c.(493-495)Cat>Gat p.H165D WDR13_uc004dkk.2_Missense_Mutation_p.H73D|WDR13_uc004dkl.4_Missense_Mutation_p.H73D|WDR13_uc011mme.2_Missense_Mutation_p.H43D NM_017883 NP_001159898 Q9H1Z4 WDR13_HUMAN Homo sapiens WD repeat domain 13 (WDR13), transcript variant 1, mRNA. 165 cytoplasm|nucleus endometrium(1)|large_intestine(4)|lung(4)|ovary(2) 11 GGGCATGTATCATGTTTTTGA 0.597000 34 21 0 0 1 0 0 OR14A16 284532 broad.mit.edu 37 1 247978230 247978230 + Missense_Mutation SNP C T T TCGA-D3-A51K-06A-11D-A25O-08 TCGA-D3-A51K-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B76091B-1C54-4BF8-8943-3D68FE5C7251 CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC g.chr1:247978230C>T uc001idm.1 - 0 802 c.802G>A c.(802-804)Gat>Aat p.D268N NM_001001966 NP_001001966 Q8NHC5 O14AG_HUMAN Homo sapiens olfactory receptor, family 14, subfamily A, member 16 (OR14A16), mRNA. 268 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1) 45 ATTACAGCATCCAAAATAGAA 0.423000 57 9 0 0 1 0 0 DPYD 1806 broad.mit.edu 37 1 97771765 97771765 + Missense_Mutation SNP T G G TCGA-D3-A51K-06A-11D-A25O-08 TCGA-D3-A51K-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B76091B-1C54-4BF8-8943-3D68FE5C7251 CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC g.chr1:97771765T>G uc001drv.3 - 16 2284 c.2147A>C c.(2146-2148)gAt>gCt p.D716A NM_000110 NP_000101 Q12882 DPYD_HUMAN Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA. 716 'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) GCTCACAATATCAGTGACATT 0.458000 194 5 0 0 1 0 0 KCNG2 26251 broad.mit.edu 37 18 77659210 77659210 + Silent SNP G A A TCGA-D3-A51K-06A-11D-A25O-08 TCGA-D3-A51K-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B76091B-1C54-4BF8-8943-3D68FE5C7251 CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC g.chr18:77659210G>A uc010xfl.2 + 1 795 c.795G>A c.(793-795)tcG>tcA p.S265S NM_012283 NP_036415 Q9UJ96 KCNG2_HUMAN Homo sapiens potassium voltage-gated channel, subfamily G, member 2 (KCNG2), mRNA. 265 energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion voltage-gated potassium channel complex delayed rectifier potassium channel activity breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4) 18 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244) TCTACGTGTCGCTGCTGCTGG 0.697000 24 4 0 0 1 0 0 KDR 3791 broad.mit.edu 37 4 55968150 55968150 + Missense_Mutation SNP A C C TCGA-D3-A51K-06A-11D-A25O-08 TCGA-D3-A51K-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B76091B-1C54-4BF8-8943-3D68FE5C7251 CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC g.chr4:55968150A>C uc003has.3 - 14 2482 c.2180T>G c.(2179-2181)gTg>gGg p.V727G KDR_uc003hat.1_Missense_Mutation_p.V727G NM_002253 NP_002244 P35968 VGFR2_HUMAN Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA. 727 Ig-like C2-type 7. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) CTCCTTCCTCACTCTGCGGAT 0.453000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 36 38 0 0 1 0 0 CCDC158 339965 broad.mit.edu 37 4 77305423 77305423 + Missense_Mutation SNP G T T TCGA-D3-A51K-06A-11D-A25O-08 TCGA-D3-A51K-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B76091B-1C54-4BF8-8943-3D68FE5C7251 CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC g.chr4:77305423G>T uc003hkb.4 - 4 697 c.544C>A c.(544-546)Cat>Aat p.H182N CCDC158_uc003hkd.3_Missense_Mutation_p.H182N NM_001042784 NP_001036249 Q5M9N0 CD158_HUMAN Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA. 182 breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1) 56 ACTCCCTCATGACTAAGCATC 0.408000 46 26 3.01185e-09 3.27957e-09 1 1 0 KIAA0141 9812 broad.mit.edu 37 5 141316848 141316848 + Missense_Mutation SNP A G G TCGA-D3-A51K-06A-11D-A25O-08 TCGA-D3-A51K-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B76091B-1C54-4BF8-8943-3D68FE5C7251 CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC g.chr5:141316848A>G uc003lls.3 + 10 1357 c.1235A>G c.(1234-1236)tAc>tGc p.Y412C KIAA0141_uc003llt.3_Missense_Mutation_p.Y412C NM_001142603 NP_055588 Q14154 DELE_HUMAN Homo sapiens KIAA0141 (KIAA0141), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. 412 apoptosis|regulation of caspase activity mitochondrion protein binding endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3) 16 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTGAGATGTTACCAGCAGTCA 0.557000 65 84 0 0 1 0 0 BC063132 0 broad.mit.edu 37 GL000241.1 25551 25551 + RNA SNP A G G TCGA-D3-A51K-06A-11D-A25O-08 TCGA-D3-A51K-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B76091B-1C54-4BF8-8943-3D68FE5C7251 CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC g.chrGL000241.1:25551A>G uc011mgv.2 - 3 c.441T>C Homo sapiens cDNA clone IMAGE:4673444, containing frame-shift errors. ATCCATTTCAATGGCTATGGT 0.378000 343 16 0 0 1 0 0 NYAP2 57624 broad.mit.edu 37 2 226378288 226378288 + Silent SNP C T T TCGA-D3-A51K-06A-11D-A25O-08 TCGA-D3-A51K-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B76091B-1C54-4BF8-8943-3D68FE5C7251 CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC g.chr2:226378288C>T uc002voe.2 + 2 598 c.423C>T c.(421-423)ccC>ccT p.P141P NYAP2_uc010fxa.1_Intron NM_020864 NP_065915 Q9P242 K1486_HUMAN Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA. 141 AACCACCACCCAAACCCAAGA 0.577000 4 15 0 0 1 0 0 PTDSS2 81490 broad.mit.edu 37 11 488240 488240 + Silent SNP C T T TCGA-D3-A51K-06A-11D-A25O-08 TCGA-D3-A51K-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B76091B-1C54-4BF8-8943-3D68FE5C7251 CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC g.chr11:488240C>T uc001lpj.3 + 6 839 c.663C>T c.(661-663)agC>agT p.S221S NM_030783 NP_110410 Q9BVG9 PTSS2_HUMAN Homo sapiens phosphatidylserine synthase 2 (PTDSS2), mRNA. 221 integral to membrane autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1) 9 all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735) Phosphatidylserine(DB00144) TGATCATCAGCGTGATGTTCG 0.642000 24 15 0 0 1 0 0 ANK1 286 broad.mit.edu 37 8 41548083 41548083 + Missense_Mutation SNP G T T TCGA-D3-A51K-06A-11D-A25O-08 TCGA-D3-A51K-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B76091B-1C54-4BF8-8943-3D68FE5C7251 CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC g.chr8:41548083G>T uc003xok.3 - 31 3977 c.3893C>A c.(3892-3894)tCt>tAt p.S1298Y NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Missense_Mutation_p.S614Y|ANK1_uc003xoi.3_Missense_Mutation_p.S1298Y|ANK1_uc003xoj.3_Missense_Mutation_p.S1298Y|ANK1_uc003xol.3_Missense_Mutation_p.S1298Y|ANK1_uc003xom.3_Missense_Mutation_p.S1339Y NM_020476 NP_065209 P16157 ANK1_HUMAN Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA. 1298 axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) CAGGTTCCCAGAGAGTTCTGC 0.562000 64 21 6.21321e-17 7.08017e-17 1 1 0 MACF1 23499 broad.mit.edu 37 1 39797463 39797463 + Missense_Mutation SNP G T T TCGA-D3-A51K-06A-11D-A25O-08 TCGA-D3-A51K-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B76091B-1C54-4BF8-8943-3D68FE5C7251 CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC g.chr1:39797463G>T uc021olw.1 + 0 523 c.523G>T c.(523-525)Ggg>Tgg p.G175W MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdb.1_Intron NM_012090 NP_036222 Q9UPN3 MACF1_HUMAN Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA. 1740 Actin-binding.|CH 1. Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing Golgi apparatus|microtubule|ruffle membrane ATPase activity|actin filament binding|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) ACAATTGGCAGGGGGGATGGT 0.493000 29 16 1.3612e-06 1.44998e-06 1 1 0 AK302879 0 broad.mit.edu 37 15 76074431 76074431 + Missense_Mutation SNP C T T rs149323153 by1000genomes TCGA-D3-A51K-06A-11D-A25O-08 TCGA-D3-A51K-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B76091B-1C54-4BF8-8943-3D68FE5C7251 CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC g.chr15:76074431C>T uc010umm.1 + 7 610 c.533C>T c.(532-534)tCg>tTg p.S178L DNM1P35_uc021sqp.1_Intron|DQ582939_uc002bba.1_5'Flank SubName: Full=cDNA FLJ59077, highly similar to Golgin subfamily A member 6; p.S190L(2) CTCCAGTCCTCGAGCTGCAGA 0.547000 12 3 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152694294 152694294 + Nonsense_Mutation SNP C A A TCGA-D3-A51K-06A-11D-A25O-08 TCGA-D3-A51K-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B76091B-1C54-4BF8-8943-3D68FE5C7251 CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC g.chr6:152694294C>A uc021zhb.1 - 56 9608 c.9385G>T c.(9385-9387)Gaa>Taa p.E3129* SYNE1_uc003qot.4_Nonsense_Mutation_p.E3136*|SYNE1_uc003qou.4_Nonsense_Mutation_p.E3129*|SYNE1_uc010kja.2_5'UTR|SYNE1_uc003qov.3_Nonsense_Mutation_p.E207* NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA. 3129 Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CTCAGAAGTTCCCCTTTAGAC 0.363000 HNSCC(10;0.0054) 11 56 1.86277e-20 2.22624e-20 1 1 0 NFATC4 4776 broad.mit.edu 37 14 24842570 24842570 + Missense_Mutation SNP C T T rs144789611 TCGA-D3-A51K-06A-11D-A25O-08 TCGA-D3-A51K-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B76091B-1C54-4BF8-8943-3D68FE5C7251 CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC g.chr14:24842570C>T uc001wpc.3 + 3 1874 c.1553C>T c.(1552-1554)gCg>gTg p.A518V NFATC4_uc010alr.3_Missense_Mutation_p.A581V|NFATC4_uc010tok.2_Missense_Mutation_p.A581V|NFATC4_uc010tol.2_Missense_Mutation_p.A581V|NFATC4_uc010als.2_Missense_Mutation_p.A531V|NFATC4_uc010too.2_Missense_Mutation_p.A531V|NFATC4_uc010tom.2_Missense_Mutation_p.A531V|NFATC4_uc010ton.2_Missense_Mutation_p.A531V|NFATC4_uc010toq.2_Missense_Mutation_p.A550V|NFATC4_uc010alt.3_Missense_Mutation_p.A550V|NFATC4_uc010top.2_Missense_Mutation_p.A550V|NFATC4_uc010alu.3_Missense_Mutation_p.A210V|NFATC4_uc010tor.2_Missense_Mutation_p.A518V|NFATC4_uc010tos.2_Missense_Mutation_p.A448V|NFATC4_uc010tot.2_Missense_Mutation_p.A506V|NFATC4_uc010tou.2_Missense_Mutation_p.A448V|NFATC4_uc010tov.2_Missense_Mutation_p.A506V|NFATC4_uc010tow.2_Missense_Mutation_p.A448V|NFATC4_uc010alv.3_Missense_Mutation_p.A506V|NFATC4_uc010tox.2_Missense_Mutation_p.A448V|NFATC4_uc001wpd.3_Missense_Mutation_p.A53V|NFATC4_uc010toy.2_Missense_Mutation_p.A53V|NFATC4_uc010toz.2_Missense_Mutation_p.A53V|NFATC4_uc010tpa.2_5'Flank|NFATC4_uc010tpb.2_5'Flank NM_004554 NP_001185895 Q14934 NFAC4_HUMAN Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 (NFATC4), transcript variant 2, mRNA. 518 RHD. cell differentiation|inflammatory response|transcription from RNA polymerase II promoter cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2) 34 GBM - Glioblastoma multiforme(265;0.018) AACAACATGGCGGCCAAGTAA 0.547000 8 10 0 0 1 0 0 NOXRED1 122945 broad.mit.edu 37 14 77873092 77873092 + Silent SNP T C C TCGA-D3-A51K-06A-11D-A25O-08 TCGA-D3-A51K-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B76091B-1C54-4BF8-8943-3D68FE5C7251 CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC g.chr14:77873092T>C uc001xtr.3 - 3 824 c.657A>G c.(655-657)caA>caG p.Q219Q NOXRED1_uc010tvi.2_Silent_p.Q219Q NM_001113475 NP_001106946 Q6NXP6 CN148_HUMAN Homo sapiens NADP-dependent oxidoreductase domain containing 1 (NOXRED1), mRNA. 219 proline biosynthetic process binding|pyrroline-5-carboxylate reductase activity NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3) 9 GACAGGTAGCTTGAAGAATCG 0.448000 22 18 0 0 1 0 0 MGAT4C 25834 broad.mit.edu 37 12 86373411 86373411 + Missense_Mutation SNP C G G TCGA-D3-A51K-06A-11D-A25O-08 TCGA-D3-A51K-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B76091B-1C54-4BF8-8943-3D68FE5C7251 CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC g.chr12:86373411C>G uc010sum.2 - 5 1324 c.1165G>C c.(1165-1167)Gat>Cat p.D389H MGAT4C_uc001tal.4_Missense_Mutation_p.D365H|MGAT4C_uc001taj.4_Missense_Mutation_p.D365H|MGAT4C_uc001tak.4_Missense_Mutation_p.D365H|MGAT4C_uc001tai.4_Missense_Mutation_p.D365H|MGAT4C_uc001tah.4_Missense_Mutation_p.D365H NM_013244 NP_037376 Q9UBM8 MGT4C_HUMAN Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) (MGAT4C), mRNA. 365 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 AAGTACTCATCAACACTACTG 0.353000 14 9 0 0 1 0 0 LUC7L3 51747 broad.mit.edu 37 17 48822059 48822059 + Missense_Mutation SNP A C C TCGA-D3-A51K-06A-11D-A25O-08 TCGA-D3-A51K-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B76091B-1C54-4BF8-8943-3D68FE5C7251 CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC g.chr17:48822059A>C uc002isq.3 + 6 746 c.578A>C c.(577-579)gAa>gCa p.E193A LUC7L3_uc002isp.2_Non-coding_Transcript|LUC7L3_uc010wmw.2_Missense_Mutation_p.E117A|LUC7L3_uc002isr.3_Missense_Mutation_p.E193A|LUC7L3_uc002iss.3_Missense_Mutation_p.E193A NM_016424 NP_057508 O95232 LC7L3_HUMAN Homo sapiens LUC7-like 3 (S. cerevisiae) (LUC7L3), transcript variant 1, mRNA. 193 RNA splicing|apoptosis|mRNA processing|response to stress focal adhesion|nuclear speck DNA binding|mRNA binding|protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1) 12 GAAGTTTGTGAAGTATGTGGA 0.373000 25 18 0 0 1 0 0 KIT 3815 broad.mit.edu 37 4 55593661 55593661 + Missense_Mutation SNP T C C rs121913513 TCGA-D3-A51K-06A-11D-A25O-08 TCGA-D3-A51K-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B76091B-1C54-4BF8-8943-3D68FE5C7251 CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC g.chr4:55593661T>C uc010igr.3 + 10 1814 c.1727T>C c.(1726-1728)cTt>cCt p.L576P KIT_uc010igs.3_Missense_Mutation_p.L572P|KIT_uc010igt.2_Missense_Mutation_p.L25P NM_000222 NP_000213 P10721 KIT_HUMAN Homo sapiens v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (KIT), transcript variant 1, mRNA. 576 male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway extracellular space|integral to membrane ATP binding|protein binding|receptor signaling protein tyrosine kinase activity p.L576P(204)|p.V560_L576del(26)|p.Y570_L576del(25)|p.V569_L576del(20)|p.L576del(18)|p.N564_L576del(15)|p.W557_Q575del(7)|p.I563_L576del(6)|p.N564_Y578del(6)|p.Q556_L576del(5)|p.I571_L576del(5)|p.L576F(4)|p.L576_P577insQL(4)|p.Q575_P577>T(4)|p.Y570_Y578del(4)|p.N564_P577del(3)|p.V555_Q575del(2)|p.L576_P577insTQL(2)|p.N567_L576>E(2)|p.T574_Q575insPT(2)|p.E561_P577del(2)|p.N567_L576>KV(2)|p.I571_N587del(2)|p.G565_D579>V(2)|p.L576_P577insPTQL(2)|p.V559_L576del(2)|p.V569_L576>G(2)|p.V560_Y578del(2)|p.I563_P577>TI(1)|p.W557_T575>CP(1)|p.Q575del(1)|p.Y568_Q575>E(1)|p.Y568_L576>CV(1)|p.K558_L576>N(1)|p.N567_N576>KE(1)|p.E561_Y578del(1)|p.Q575_L576ins17(1)|p.E554_L576>DNCSHLSPQQP(1)|p.K558_Q575del(1)|p.E561_D579>P(1)|p.Q575_K581del(1)|p.L576_P577del(1)|p.V559_S590del(1)|p.Q556_L576>H(1)|p.Q575_W582>L(1)|p.(550_592)ins7(1)|p.N567_P577del(1)|p.Q575_W582>R(1)|p.V569_P577del(1)|p.V569_Q575>E(1)|p.P573_D579del(1)|p.T574_F584del(1)|p.L576_G592del(1)|p.K558_L576>NV(1)|p.K558_L576del(1)|p.Y553_L576>NCLHLYSSQ(1)|p.Y570_L576>R(1)|p.V569_Q575del(1)|p.N567_Y578>ED(1)|p.Y570_L576delYIDPTQL(1)|p.L576_P577insPT(1)|p.Q575_L576ins15(1)|p.T574_Q575ins12(1)|p.Q575_D579del(1)|p.T574_K581del(1)|p.T574_H580del(1)|p.L576_P577ins15(1)|p.V569_Y578del(1)|p.N567_L576>I(1)|p.Q556_Q575del(1)|p.N567_L576del(1) NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1) 6411 all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209) Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171) Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) CCAACACAACTTCCTTATGAT 0.408000 1 """Mis, O""" """GIST, AML, TGCT, mastocytosis, mucosal melanoma""" """GIST, epithelioma""" Piebald trait Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors 24 491 0 0 1 0 0 SPATC1 375686 broad.mit.edu 37 8 145095490 145095490 + Missense_Mutation SNP C T T TCGA-D3-A51K-06A-11D-A25O-08 TCGA-D3-A51K-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B76091B-1C54-4BF8-8943-3D68FE5C7251 CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC g.chr8:145095490C>T uc011lkw.2 + 2 890 c.788C>T c.(787-789)cCc>cTc p.P263L SPATC1_uc011lkx.2_Missense_Mutation_p.P263L NM_198572 NP_940974 Q76KD6 SPERI_HUMAN Homo sapiens spermatogenesis and centriole associated 1 (SPATC1), transcript variant 1, mRNA. 263 NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 15 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) ACTGAGCCCCCCCAGTCGACC 0.617000 151 25 0 0 1 0 0 TMEM173 340061 broad.mit.edu 37 5 138860911 138860911 + Missense_Mutation SNP A G G TCGA-D3-A51K-06A-11D-A25O-08 TCGA-D3-A51K-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B76091B-1C54-4BF8-8943-3D68FE5C7251 CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC g.chr5:138860911A>G uc003lep.3 - 3 546 c.244T>C c.(244-246)Tgg>Cgg p.W82R NM_198282 NP_938023 Q86WV6 TM173_HUMAN Homo sapiens transmembrane protein 173 (TMEM173), nuclear gene encoding mitochondrial protein, mRNA. 82 activation of innate immune response|apoptosis|cellular response to exogenous dsRNA|defense response to virus|innate immune response|interferon-beta production|positive regulation of defense response to virus by host|positive regulation of protein binding|positive regulation of protein import into nucleus, translocation|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane|perinuclear region of cytoplasm|plasma membrane protein homodimerization activity|protein kinase binding|transcription factor binding endometrium(1)|kidney(1)|lung(6)|upper_aerodigestive_tract(1) 9 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) ACAGTCCTCCAGTAGCTGCCC 0.662000 10 22 0 0 1 0 0 LOC399753 399753 broad.mit.edu 37 10 49218498 49218498 + Silent SNP A G G TCGA-D3-A51K-06A-11D-A25O-08 TCGA-D3-A51K-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B76091B-1C54-4BF8-8943-3D68FE5C7251 CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC g.chr10:49218498A>G uc001jgd.3 - 7 1800 c.1641T>C c.(1639-1641)tcT>tcC p.S547S DQ588224_uc001jge.1_5'Flank Homo sapiens uncharacterized LOC399753 (LOC399753), non-coding RNA. GCTGGCCCAGAGACAGCTCAG 0.582000 9 5 0 0 1 0 0 LOC220729 220729 broad.mit.edu 37 3 197348674 197348674 + RNA SNP A G G rs144273946 by1000genomes TCGA-D3-A51K-06A-11D-A25O-08 TCGA-D3-A51K-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B76091B-1C54-4BF8-8943-3D68FE5C7251 CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC g.chr3:197348674A>G uc011bug.2 - 3 c.417T>C LOC220729_uc003fxy.3_Non-coding_Transcript|LOC220729_uc010iao.2_Intron Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein (Fp) pseudogene (LOC220729), non-coding RNA. GGCTCTGTCCACCAAATGCAC 0.478000 79 5 0 0 1 0 0 RDH5 5959 broad.mit.edu 37 12 56118106 56118106 + Splice_Site SNP A G G TCGA-D3-A51K-06A-11D-A25O-08 TCGA-D3-A51K-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B76091B-1C54-4BF8-8943-3D68FE5C7251 CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC g.chr12:56118106A>G uc001shk.3 + 5 917 c.734_splice c.e5-1 p.Y245_splice RDH5_uc021qyt.1_Splice_Site_p.Y108_splice|RDH5_uc001shl.3_Splice_Site_p.Y245_splice NM_002905 NP_002896 Q92781 RDH1_HUMAN Homo sapiens retinol dehydrogenase 5 (11-cis/9-cis) (RDH5), transcript variant 2, mRNA. 245 response to stimulus|visual perception membrane binding|retinol dehydrogenase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1) 12 NADH(DB00157)|Vitamin A(DB00162) GGGGCTGCAGACCTGAAAATG 0.577000 OREG0021908 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 20 0 0 1 0 0 PCNXL2 80003 broad.mit.edu 37 1 233135047 233135047 + Missense_Mutation SNP G A A TCGA-D3-A51K-06A-11D-A25O-08 TCGA-D3-A51K-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B76091B-1C54-4BF8-8943-3D68FE5C7251 CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC g.chr1:233135047G>A uc001hvl.2 - 30 5642 c.5407C>T c.(5407-5409)Cgc>Tgc p.R1803C PCNXL2_uc001hvk.1_Missense_Mutation_p.R455C|PCNXL2_uc001hvm.1_Non-coding_Transcript NM_014801 NP_055616 A6NKB5 PCX2_HUMAN Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA. 1803 integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) ATACTGCCGCGCTCCGGATTG 0.557000 18 3 0 0 1 0 0 OR4S1 256148 broad.mit.edu 37 11 48328357 48328357 + Missense_Mutation SNP C G G TCGA-D3-A51K-06A-11D-A25O-08 TCGA-D3-A51K-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B76091B-1C54-4BF8-8943-3D68FE5C7251 CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC g.chr11:48328357C>G uc010rhu.2 + 0 583 c.583C>G c.(583-585)Ctc>Gtc p.L195V NM_001004725 NP_001004725 Q8NGB4 OR4S1_HUMAN Homo sapiens olfactory receptor, family 4, subfamily S, member 1 (OR4S1), mRNA. 195 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3) 21 CATGGTAGGTCTCATCGTGGT 0.448000 44 23 0 0 1 0 0 OR5T2 219464 broad.mit.edu 37 11 55999650 55999650 + Missense_Mutation SNP C T T TCGA-D3-A51K-06A-11D-A25O-08 TCGA-D3-A51K-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B76091B-1C54-4BF8-8943-3D68FE5C7251 CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC g.chr11:55999650C>T uc010rjc.2 - 0 1012 c.1012G>A c.(1012-1014)Gac>Aac p.D338N NM_001004746 NP_001004746 Q8NGG2 OR5T2_HUMAN Homo sapiens olfactory receptor, family 5, subfamily T, member 2 (OR5T2), mRNA. 338 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3) 41 Esophageal squamous(21;0.00448) TTCATTGAGTCTTTTACATCT 0.333000 23 19 0 0 1 0 0 TUSC5 286753 broad.mit.edu 37 17 1198820 1198820 + Silent SNP C T T TCGA-D3-A51K-06A-11D-A25O-08 TCGA-D3-A51K-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B76091B-1C54-4BF8-8943-3D68FE5C7251 CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC g.chr17:1198820C>T uc002fsi.1 + 1 762 c.423C>T c.(421-423)ggC>ggT p.G141G NM_172367 NP_758955 Q8IXB3 TUSC5_HUMAN Homo sapiens tumor suppressor candidate 5 (TUSC5), mRNA. 141 response to biotic stimulus integral to membrane endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2) 15 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) ACGTGGACGGCGCCCGGAGGC 0.622000 81 70 0 0 1 0 0 SLC7A14 57709 broad.mit.edu 37 3 170244647 170244647 + Missense_Mutation SNP G T T TCGA-D3-A51K-06A-11D-A25O-08 TCGA-D3-A51K-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B76091B-1C54-4BF8-8943-3D68FE5C7251 CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC g.chr3:170244647G>T uc003fgz.2 - 1 395 c.79C>A c.(79-81)Cta>Ata p.L27I CLDN11_uc011bpt.1_Intron|CLDN11_uc003fha.1_Intron NM_020949 NP_066000 Q8TBB6 S7A14_HUMAN Homo sapiens solute carrier family 7 (orphan transporter), member 14 (SLC7A14), mRNA. 27 integral to membrane amino acid transmembrane transporter activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4) 53 all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137) Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12) TTGGTGCGTAGGATCCTGGAG 0.587000 9 6 0.00116845 0.00121817 1 1 0 FBXO33 254170 broad.mit.edu 37 14 39870734 39870734 + Missense_Mutation SNP G T T TCGA-D3-A51K-06A-11D-A25O-08 TCGA-D3-A51K-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B76091B-1C54-4BF8-8943-3D68FE5C7251 CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC g.chr14:39870734G>T uc001wvk.3 - 2 1380 c.1042C>A c.(1042-1044)Cac>Aac p.H348N NM_203301 NP_976046 Q7Z6M2 FBX33_HUMAN Homo sapiens F-box protein 33 (FBXO33), mRNA. 348 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1) 9 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169) GBM - Glioblastoma multiforme(112;0.0425) AGAGACTTGTGCATTACAGAA 0.428000 47 23 1.55469e-16 1.73136e-16 1 1 0 PTRF 284119 broad.mit.edu 37 17 40557304 40557304 + Missense_Mutation SNP G T T TCGA-D3-A51K-06A-11D-A25O-08 TCGA-D3-A51K-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B76091B-1C54-4BF8-8943-3D68FE5C7251 CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC g.chr17:40557304G>T uc002hzo.3 - 1 797 c.574C>A c.(574-576)Ccc>Acc p.P192T PTRF_uc010wgi.2_Missense_Mutation_p.P174T NM_012232 NP_036364 Q6NZI2 PTRF_HUMAN Homo sapiens polymerase I and transcript release factor (PTRF), mRNA. 192 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm protein binding|rRNA primary transcript binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1) 17 all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134) BRCA - Breast invasive adenocarcinoma(366;0.193) TCCTCCTCGGGCCGCTCGCCC 0.647000 97 62 8.3131e-28 1.01835e-27 1 1 0 LOC220729 220729 broad.mit.edu 37 3 197348739 197348739 + Splice_Site SNP G C C TCGA-D3-A51K-06A-11D-A25O-08 TCGA-D3-A51K-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B76091B-1C54-4BF8-8943-3D68FE5C7251 CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC g.chr3:197348739G>C uc011bug.2 - 4 c.352_splice c.e4-1 LOC220729_uc003fxy.3_Splice_Site|LOC220729_uc010iao.2_Intron Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein (Fp) pseudogene (LOC220729), non-coding RNA. TAATTTTCTAGCTGTGAAAGA 0.398000 76 5 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152324558 152324559 + Frame_Shift_Del DEL TG - - rs140875805 byFrequency TCGA-D3-A51K-06A-11D-A25O-08 TCGA-D3-A51K-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B76091B-1C54-4BF8-8943-3D68FE5C7251 CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC g.chr1:152324558_152324559delTG uc001ezw.4 - 2 5776_5777 c.5703_5704delCA c.(5701-5706)cacagcfs p.H1901fs AK056431_uc001ezv.3_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN Homo sapiens filaggrin family member 2 (FLG2), mRNA. 1901 calcium ion binding|structural molecule activity p.H1901fs*30(2) NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGGCTTGGCTGTGTGTGTGTC 0.515 --- 387 --- --- 11 --- ADD3 120 broad.mit.edu 37 10 111893350 111893350 + Frame_Shift_Del DEL A - - TCGA-D3-A51K-06A-11D-A25O-08 TCGA-D3-A51K-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B76091B-1C54-4BF8-8943-3D68FE5C7251 CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC g.chr10:111893350delA uc001kyu.3 + 14 2251 c.2095delA c.(2095-2097)aaafs p.K699fs ADD3_uc001kyt.4_Frame_Shift_Del_p.K699fs|ADD3_uc001kys.4_Frame_Shift_Del_p.K667fs|ADD3_uc001kyv.3_Frame_Shift_Del_p.K699fs|ADD3_uc001kyw.3_Frame_Shift_Del_p.K667fs|ADD3_uc001kyx.3_Frame_Shift_Del_p.K272fs NM_016824 NP_058432 Q9UEY8 ADDG_HUMAN Homo sapiens adducin 3 (gamma) (ADD3), transcript variant 1, mRNA. 699 Interaction with calmodulin (Potential). cytoskeleton actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton p.N698K(1) central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 29 Breast(234;0.052)|Lung NSC(174;0.223) Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742) GAAAAAGAACAAAAAAAAGGA 0.333 --- 367 --- --- 8 --- TBC1D17 79735 broad.mit.edu 37 19 50391745 50391745 + Frame_Shift_Del DEL C - - TCGA-D3-A51K-06A-11D-A25O-08 TCGA-D3-A51K-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B76091B-1C54-4BF8-8943-3D68FE5C7251 CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC g.chr19:50391745delC uc002pqo.3 + 16 2110 c.1811delC c.(1810-1812)tcgfs p.S604fs TBC1D17_uc010ybg.2_Frame_Shift_Del_p.S571fs|TBC1D17_uc002pqp.3_Frame_Shift_Del_p.S255fs|TBC1D17_uc002pqr.3_Frame_Shift_Del_p.S255fs|IL4I1_uc002pqt.1_3'UTR|IL4I1_uc021uxy.1_3'UTR|IL4I1_uc002pqu.2_3'UTR|IL4I1_uc010eno.2_3'UTR|IL4I1_uc002pqv.2_3'UTR NM_024682 NP_078958 Q9HA65 TBC17_HUMAN Homo sapiens TBC1 domain family, member 17 (TBC1D17), transcript variant 1, mRNA. 604 Pro-rich. intracellular Rab GTPase activator activity NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 15 all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017) CACAGCCCCTCGCCCACCGCC 0.736 --- 4 --- --- 2 --- GAGE2B 645037 broad.mit.edu 37 X 49208295 49208296 + In_Frame_Ins INS - TAT TAT TCGA-D3-A51K-06A-11D-A25O-08 TCGA-D3-A51K-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B76091B-1C54-4BF8-8943-3D68FE5C7251 CA87B7AF-4D8D-4BEB-BC55-BD54A4823BEC g.chrX:49208295_49208296insTAT uc004dnv.4 + 1 140_141 c.24_25insTAT c.(22-27)insTAT p.9_10insY GAGE2B_uc004dnl.4_Intron|GAGE2B_uc022bwc.1_Intron|GAGE2B_uc011mne.2_Intron|GAGE2B_uc004dnn.4_Intron|GAGE2B_uc011mnf.2_Intron|GAGE2B_uc004dnq.4_Intron|GAGE2B_uc004dnr.4_Intron|GAGE2B_uc004dnk.4_Intron|GAGE2B_uc004dno.4_Intron|GAGE2B_uc004dnp.4_Intron|GAGE2B_uc010njc.3_In_Frame_Ins_p.9_10insY|GAGE2B_uc004dnt.4_In_Frame_Ins_p.9_10insY|GAGE2B_uc004dnu.4_In_Frame_Ins_p.9_10insY NM_001127212 NP_001091881 Homo sapiens G antigen 2A (GAGE2A), mRNA. GAAGATCGACCTATCGGCCTAG 0.465 --- 4 --- --- 3 ---