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 LYG2 254773 broad.mit.edu 37 2 99858848 99858848 + Missense_Mutation SNP G G T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr2:99858848G>T ENST00000333017.2 - 6 730 c.618C>A c.(616-618)ttC>ttA p.F206L LYG2_ENST00000423800.1_3'UTR|LYG2_ENST00000409238.1_Missense_Mutation_p.F206L NM_175735.3 NP_783862.2 Q86SG7 LYG2_HUMAN lysozyme G-like 2 206 cell wall macromolecule catabolic process|peptidoglycan catabolic process extracellular region lysozyme activity large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1) 12 GTCTTTTATAGAACTTAGCTC 0.463000 58 100 1.4709e-25 1.65476e-25 0.870114 1 0 CORO7 79585 broad.mit.edu 37 16 4411441 4411441 + Silent SNP C C T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr16:4411441C>T ENST00000251166.4 - 17 1753 c.1608G>A c.(1606-1608)acG>acA p.T536T CORO7_ENST00000537233.2_Silent_p.T518T|CORO7_ENST00000539968.1_Silent_p.T316T|CORO7-PAM16_ENST00000572467.1_Silent_p.T536T|CORO7_ENST00000574025.1_Silent_p.T451T|CORO7_ENST00000423908.2_3'UTR NM_024535.4 NP_078811.3 coronin 7 breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2) 23 TGGGCAGTGCCGTGTCGGGCA 0.687000 35 95 0 0 0.804634 0 0 IFT122 55764 broad.mit.edu 37 3 129195584 129195584 + Missense_Mutation SNP T T A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr3:129195584T>A ENST00000296266.3 + 12 1432 c.1240T>A c.(1240-1242)Tat>Aat p.Y414N IFT122_ENST00000504021.1_Missense_Mutation_p.Y257N|IFT122_ENST00000440957.2_Missense_Mutation_p.Y154N|IFT122_ENST00000347300.2_Missense_Mutation_p.Y304N|IFT122_ENST00000431818.2_Missense_Mutation_p.Y213N|IFT122_ENST00000349441.2_Missense_Mutation_p.Y252N|IFT122_ENST00000507564.1_Missense_Mutation_p.Y355N|IFT122_ENST00000348417.2_Missense_Mutation_p.Y363N NM_052985.2 NP_443711.2 Q9HBG6 IF122_HUMAN intraflagellar transport 122 homolog (Chlamydomonas) 363 camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure microtubule basal body|photoreceptor connecting cilium breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 CAAGGACCGCTATGCCTACAG 0.547000 54 89 0 0 0.870114 0 0 GNAZ 2781 broad.mit.edu 37 22 23438310 23438310 + Missense_Mutation SNP G G A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr22:23438310G>A ENST00000248996.4 + 2 1094 c.428G>A c.(427-429)cGc>cAc p.R143H RTDR1_ENST00000216036.4_Intron NM_002073.2 NP_002064.1 P19086 GNAZ_HUMAN guanine nucleotide binding protein (G protein), alpha z polypeptide 143 endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1) 19 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.166) TGCTTCAGCCGCTCCAGCGAG 0.657000 7 140 0 0 0.361761 0 0 CSMD3 114788 broad.mit.edu 37 8 113694715 113694715 + Missense_Mutation SNP A A C TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr8:113694715A>C ENST00000297405.5 - 16 2877 c.2633T>G c.(2632-2634)aTg>aGg p.M878R CSMD3_ENST00000455883.2_Missense_Mutation_p.M774R|CSMD3_ENST00000352409.3_Missense_Mutation_p.M878R|CSMD3_ENST00000343508.3_Missense_Mutation_p.M838R NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 878 Sushi 4. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TTTTCCATCCATAAGAATACA 0.358000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 53 114 0 0 0.870114 0 0 LPHN2 23266 broad.mit.edu 37 1 82456786 82456786 + Missense_Mutation SNP G G C TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr1:82456786G>C ENST00000370728.1 + 25 4982 c.4337G>C c.(4336-4338)gGa>gCa p.G1446A LPHN2_ENST00000335786.5_Missense_Mutation_p.G1403A|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000319517.6_Missense_Mutation_p.G1390A|LPHN2_ENST00000370717.2_Missense_Mutation_p.G1461A|LPHN2_ENST00000394879.1_Missense_Mutation_p.G1448A|LPHN2_ENST00000370721.1_Missense_Mutation_p.G1371A|LPHN2_ENST00000370730.1_Missense_Mutation_p.G1403A|LPHN2_ENST00000370727.1_Missense_Mutation_p.G1418A|LPHN2_ENST00000370715.1_3'UTR|LPHN2_ENST00000370723.1_Missense_Mutation_p.G1448A|LPHN2_ENST00000271029.4_Missense_Mutation_p.G1418A|LPHN2_ENST00000370713.1_3'UTR|LPHN2_ENST00000359929.3_Missense_Mutation_p.G1390A|LPHN2_ENST00000370725.1_Missense_Mutation_p.G1461A O95490 LPHN2_HUMAN latrophilin 2 1446 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) attccagAAGGAGATGTTAGA 0.423000 10 9 0 0 0.335167 0 0 PSMD1 5707 broad.mit.edu 37 2 231947666 231947666 + Missense_Mutation SNP G G A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr2:231947666G>A ENST00000308696.6 + 13 1645 c.1483G>A c.(1483-1485)Gat>Aat p.D495N PSMD1_ENST00000409643.1_Missense_Mutation_p.D495N|PSMD1_ENST00000373635.4_Missense_Mutation_p.D495N NM_002807.3 NP_002798.2 Q99460 PSMD1_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 1 495 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome regulatory particle enzyme regulator activity|protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4) 31 Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168) Bortezomib(DB00188) AGATGTTTATGATTTGCTAAA 0.363000 25 40 0 0 0.681144 0 0 ATOH8 84913 broad.mit.edu 37 2 85982034 85982034 + Missense_Mutation SNP C C G TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr2:85982034C>G ENST00000306279.3 + 1 1018 c.722C>G c.(721-723)aCg>aGg p.T241R ATOH8_ENST00000463422.1_3'UTR NM_032827.6 NP_116216.2 Q96SQ7 ATOH8_HUMAN atonal homolog 8 (Drosophila) 241 cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding cervix(1)|endometrium(1)|large_intestine(1)|lung(2) 5 AGGGAGCGGACGCGGGTGCAC 0.706000 70 101 0 0 0.870114 0 0 PSD2 84249 broad.mit.edu 37 5 139215325 139215325 + Missense_Mutation SNP C C G TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr5:139215325C>G ENST00000274710.3 + 9 1582 c.1377C>G c.(1375-1377)atC>atG p.I459M NM_032289.2 NP_115665.1 Q9BQI7 PSD2_HUMAN pleckstrin and Sec7 domain containing 2 459 SEC7. regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2) 38 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACAACTCCATCAAGAATGAAA 0.527000 287 476 0 0 0.870114 0 0 ZNF780B 163131 broad.mit.edu 37 19 40541026 40541026 + Silent SNP G G A rs143352640 by1000genomes TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr19:40541026G>A ENST00000434248.1 - 5 1805 c.1740C>T c.(1738-1740)acC>acT p.T580T ZNF780B_ENST00000221355.6_Silent_p.T432T NM_001005851.2 NP_001005851.1 Q9Y6R6 Z780B_HUMAN zinc finger protein 780B 580 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 23 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) GTTTCTTTCCGGTATGAATAC 0.388000 36 123 0 0 0.796494 0 0 HCN4 10021 broad.mit.edu 37 15 73624589 73624589 + Silent SNP G G T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr15:73624589G>T ENST00000261917.3 - 3 2247 c.1254C>A c.(1252-1254)atC>atA p.I418I NM_005477.2 NP_005468.1 Q9Y3Q4 HCN4_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 4 418 blood circulation|muscle contraction integral to membrane cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 55 COAD - Colon adenocarcinoma(1;0.142) TGAGGTTCACGATGCGCACCA 0.612000 70 96 1.1794e-34 1.36085e-34 0.870114 1 0 SRCAP 10847 broad.mit.edu 37 16 30724634 30724634 + Missense_Mutation SNP G G C TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr16:30724634G>C ENST00000262518.4 + 15 2621 c.2236G>C c.(2236-2238)Gat>Cat p.D746H SRCAP_ENST00000395059.2_Missense_Mutation_p.D746H|SRCAP_ENST00000344771.4_Missense_Mutation_p.D746H NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 746 Helicase ATP-binding. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity p.D746H(1) NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) TCTCATTCTGGATGAGGCGCA 0.527000 96 132 0 0 0.870114 0 0 ZNF234 10780 broad.mit.edu 37 19 44662014 44662014 + Missense_Mutation SNP G G C TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr19:44662014G>C ENST00000426739.2 + 6 2103 c.1845G>C c.(1843-1845)caG>caC p.Q615H ZNF234_ENST00000592437.1_Missense_Mutation_p.Q615H NM_006630.2 NP_006621.1 Q14588 ZN234_HUMAN zinc finger protein 234 615 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1) 23 Prostate(69;0.0435) AACTTCATCAGAGTGTCCACA 0.473000 55 81 0 0 0.870114 0 0 ZFHX4 79776 broad.mit.edu 37 8 77767336 77767336 + Missense_Mutation SNP T T C TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr8:77767336T>C ENST00000521891.2 + 10 8627 c.8179T>C c.(8179-8181)Tac>Cac p.Y2727H ZFHX4_ENST00000518282.1_Missense_Mutation_p.Y2701H|ZFHX4_ENST00000050961.6_Missense_Mutation_p.Y2682H|ZFHX4_ENST00000455469.2_Missense_Mutation_p.Y2682H NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2682 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CCCACAGAAATACATCTATTT 0.428000 HNSCC(33;0.089) 13 40 0 0 0.411799 0 0 ANP32D 23519 broad.mit.edu 37 12 48866717 48866717 + Silent SNP C C T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr12:48866717C>T ENST00000266594.1 + 1 270 c.270C>T c.(268-270)ctC>ctT p.L90L NM_012404.2 NP_036536.2 O95626 AN32D_HUMAN acidic (leucine-rich) nuclear phosphoprotein 32 family, member D 90 central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 9 GTCCAAACCTCATACATCTAA 0.398000 35 53 0 0 0.796494 0 0 KIAA1210 57481 broad.mit.edu 37 X 118220587 118220587 + Missense_Mutation SNP A A G TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chrX:118220587A>G ENST00000402510.2 - 11 4605 c.4606T>C c.(4606-4608)Tct>Cct p.S1536P NM_020721.1 NP_065772.1 Q9ULL0 K1210_HUMAN KIAA1210 1536 breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 64 GCAACGTAAGATATTTTGGTG 0.512000 53 15 0 0 0.870114 0 0 SCG3 29106 broad.mit.edu 37 15 51975502 51975502 + Missense_Mutation SNP G G C TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr15:51975502G>C ENST00000220478.3 + 4 671 c.268G>C c.(268-270)Gaa>Caa p.E90Q SCG3_ENST00000542355.2_5'UTR NM_013243.3 NP_037375.2 Q8WXD2 SCG3_HUMAN secretogranin III 90 platelet activation|platelet degranulation extracellular region|stored secretory granule breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all cancers(107;0.00488) AATTGAGAAAGAAAGACAATC 0.358000 98 144 0 0 0.870114 0 0 MDN1 23195 broad.mit.edu 37 6 90428326 90428326 + Nonsense_Mutation SNP C C T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr6:90428326C>T ENST00000369393.3 - 43 6457 c.6342G>A c.(6340-6342)tgG>tgA p.W2114* MDN1_ENST00000428876.1_Nonsense_Mutation_p.W2114* Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 2114 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) GCAGCCTCCTCCAAGGTCGTA 0.473000 26 53 0 0 0.706142 0 0 SRCAP 10847 broad.mit.edu 37 16 30723437 30723437 + Missense_Mutation SNP G G C TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr16:30723437G>C ENST00000262518.4 + 12 2159 c.1774G>C c.(1774-1776)Gaa>Caa p.E592Q SRCAP_ENST00000395059.2_Missense_Mutation_p.E592Q|SRCAP_ENST00000344771.4_Missense_Mutation_p.E592Q NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 592 interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) TGCAGCAGCTGAAAGTCTCCA 0.542000 42 85 0 0 0.847076 0 0 MEGF6 1953 broad.mit.edu 37 1 3407103 3407103 + Missense_Mutation SNP C C T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr1:3407103C>T ENST00000356575.4 - 37 4841 c.4615G>A c.(4615-4617)Gcg>Acg p.A1539T MEGF6_ENST00000294599.4_Missense_Mutation_p.A1227T NM_001409.3 NP_001400.3 O75095 MEGF6_HUMAN multiple EGF-like-domains 6 1539 extracellular region calcium ion binding cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105) all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211) Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213) TAGTGCCTCGCTGGTCCACCG 0.672000 30 58 0 0 0.740014 0 0 SDAD1 55153 broad.mit.edu 37 4 76882456 76882456 + Missense_Mutation SNP T T C TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr4:76882456T>C ENST00000356260.5 - 15 1305 c.1187A>G c.(1186-1188)aAt>aGt p.N396S SDAD1_ENST00000513089.1_5'UTR|SDAD1_ENST00000395711.4_Missense_Mutation_p.N359S NM_018115.2 NP_060585.2 Q9NVU7 SDA1_HUMAN SDA1 domain containing 1 396 N -> S (in Ref. 1; CAH18368). protein transport|ribosomal large subunit biogenesis nucleolus protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 19 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) CTTTATAGCATTGATTCTAGA 0.368000 44 59 0 0 0.864702 0 0 GAA 2548 broad.mit.edu 37 17 78079575 78079575 + Nonsense_Mutation SNP G G T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr17:78079575G>T ENST00000302262.3 + 3 793 c.574G>T c.(574-576)Gag>Tag p.E192* GAA_ENST00000390015.3_Nonsense_Mutation_p.E192* NM_000152.3 NP_000143.2 P10253 LYAG_HUMAN glucosidase, alpha; acid 192 cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis lysosomal membrane carbohydrate binding|maltose alpha-glucosidase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 21 all_neural(118;0.117) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139) Acarbose(DB00284) CAGGCGCTACGAGGTGCCCTT 0.602000 49 193 7.47603e-22 8.25573e-22 0.870114 1 0 MAPK14 1432 broad.mit.edu 37 6 36067964 36067964 + Splice_Site SNP G G A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr6:36067964G>A ENST00000229795.3 + 9 1129 c.e9-1 MAPK14_ENST00000310795.4_Intron|MAPK14_ENST00000229794.4_Intron|MAPK14_ENST00000468133.1_Intron NM_001315.2 NP_001306.1 Q16539 MK14_HUMAN mitogen-activated protein kinase 14 activation of MAPK activity|cellular component movement|cellular response to ionizing radiation|chemotaxis|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of muscle cell differentiation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|signal transduction in response to DNA damage|stress-activated MAPK cascade|stress-induced premature senescence|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase activity|MAP kinase kinase activity|protein binding central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1) 16 AGGCATCTAAGATATTAACCA 0.403000 63 108 0 0 0.870114 0 0 TPM2 7169 broad.mit.edu 37 9 35685657 35685657 + Missense_Mutation SNP C C T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr9:35685657C>T ENST00000378292.3 - 3 1563 c.361G>A c.(361-363)Gat>Aat p.D121N TPM2_ENST00000378300.5_Missense_Mutation_p.D121N|TPM2_ENST00000329305.2_Missense_Mutation_p.D121N|TPM2_ENST00000360958.2_Missense_Mutation_p.D121N NM_213674.1 NP_998839.1 P07951 TPM2_HUMAN tropomyosin 2 (beta) 121 muscle filament sliding|regulation of ATPase activity cytosol|muscle thin filament tropomyosin actin binding|structural constituent of muscle NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_epithelial(49;0.121) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) TCGCTCTCATCAGCCGCCTTC 0.672000 84 112 0 0 0.870114 0 0 BRCA1 672 broad.mit.edu 37 17 41246211 41246211 + Missense_Mutation SNP C C G rs80357978 TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr17:41246211C>G ENST00000309486.4 - 9 1476 c.449G>C c.(448-450)aGa>aCa p.R150T BRCA1_ENST00000346315.3_Missense_Mutation_p.R446T|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.R399T|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.R446T|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000357654.3_Missense_Mutation_p.R446T|BRCA1_ENST00000354071.3_Missense_Mutation_p.R446T NM_007297.3 NP_009228.2 P38398 BRCA1_HUMAN breast cancer 1, early onset 446 androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2) 120 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.126) GGAGTGAACTCTTTCACTTTT 0.378000 """D, Mis, N, F, S""" ovarian """breast, ovarian""" Homologous recombination Hereditary Breast-Ovarian Cancer, BRCA1 type TCGA Ovarian(2;0.000030) 47 70 0 0 0.864702 0 0 ZNF142 7701 broad.mit.edu 37 2 219503085 219503085 + Missense_Mutation SNP G G C TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr2:219503085G>C ENST00000411696.2 - 9 5820 c.5041C>G c.(5041-5043)Ccc>Gcc p.P1681A ZNF142_ENST00000449707.1_Missense_Mutation_p.P1681A P52746 ZN142_HUMAN zinc finger protein 142 1681 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(207;0.0474) Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) CCAGTGTGGGGAGCGGCAGGA 0.627000 14 26 0 0 0.557998 0 0 ABCC5 10057 broad.mit.edu 37 3 183689484 183689484 + Missense_Mutation SNP G G A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr3:183689484G>A ENST00000334444.6 - 11 1868 c.1628C>T c.(1627-1629)gCa>gTa p.A543V ABCC5_ENST00000265586.6_Missense_Mutation_p.A543V NM_005688.2 NP_005679.2 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 5 543 integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) TTTCTGCTCTGCCAGCACCGC 0.597000 49 100 0 0 0.870114 0 0 TTN 7273 broad.mit.edu 37 2 179413427 179413427 + Missense_Mutation SNP C C T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr2:179413427C>T ENST00000589042.1 - 339 93150 c.92926G>A c.(92926-92928)Gat>Aat p.D30976N TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D22036N|TTN_ENST00000460472.2_Missense_Mutation_p.D21911N|TTN_ENST00000342992.6_Missense_Mutation_p.D28408N|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D22103N|TTN_ENST00000591111.1_Missense_Mutation_p.D29335N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 29335 Fibronectin type-III 126. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTGAAGGAATCTGTTGTATGG 0.448000 38 72 0 0 0.812448 0 0 PLIN5 440503 broad.mit.edu 37 19 4523684 4523684 + Silent SNP C C T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr19:4523684C>T ENST00000381848.3 - 8 1328 c.1248G>A c.(1246-1248)caG>caA p.Q416Q NM_001013706.2 NP_001013728.2 Q00G26 PLIN5_HUMAN perilipin 5 416 lipid particle endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1) 10 CCCAGGCTCTCTGCTGGGCCG 0.711000 OREG0025168 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 129 177 0 0 0.870114 0 0 KMT2D 8085 broad.mit.edu 37 12 49427906 49427906 + Nonsense_Mutation SNP C C A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr12:49427906C>A ENST00000301067.7 - 38 10683 c.10684G>T c.(10684-10686)Gag>Tag p.E3562* NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D TTGAGCTTCTCAGCATCAGCT 0.547000 77 113 3.4887e-51 4.13136e-51 0.870114 1 0 PDE4DIP 9659 broad.mit.edu 37 1 144864203 144864203 + Missense_Mutation SNP C C G TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr1:144864203C>G ENST00000369359.4 - 39 6338 c.6300G>C c.(6298-6300)ttG>ttC p.L2100F PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.L2049F|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.L1964F|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.L1964F|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.L1858F Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 1964 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) GCTTCTCCCTCAAGTCTTCCA 0.547000 T PDGFRB MPD 78 444 0 0 0.870114 0 0 HMGXB4 10042 broad.mit.edu 37 22 35684398 35684398 + Missense_Mutation SNP G G A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr22:35684398G>A ENST00000216106.5 + 9 1764 c.1636G>A c.(1636-1638)Gag>Aag p.E546K HMGXB4_ENST00000444518.2_Missense_Mutation_p.E437K NM_001003681.2 NP_001003681.1 Q9UGU5 HMGX4_HUMAN HMG box domain containing 4 546 endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway NURF complex DNA binding breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 GCAGGAAACTGAGGTGAATAC 0.438000 25 53 0 0 0.681144 0 0 SETD3 84193 broad.mit.edu 37 14 99866554 99866554 + Missense_Mutation SNP C C T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr14:99866554C>T ENST00000331768.5 - 12 1379 c.1220G>A c.(1219-1221)aGa>aAa p.R407K NM_032233.2 NP_115609.2 Q86TU7 SETD3_HUMAN SET domain containing 3 407 peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1) 25 all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866) GGTGAAGATTCTATCAATAGC 0.403000 54 102 0 0 0.870114 0 0 TEAD4 7004 broad.mit.edu 37 12 3128321 3128321 + Missense_Mutation SNP C C T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr12:3128321C>T ENST00000359864.2 + 8 758 c.568C>T c.(568-570)Ccg>Tcg p.P190S TEAD4_ENST00000358409.2_Missense_Mutation_p.P147S|TEAD4_ENST00000397122.2_Missense_Mutation_p.P61S NM_003213.3 NP_003204 Q15561 TEAD4_HUMAN TEA domain family member 4 190 hippo signaling cascade|muscle organ development|skeletal system development DNA binding|protein binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1) 10 Ovarian(42;0.211) OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831) TGTCCAGCCTCCGCTGCCTCT 0.682000 67 91 0 0 0.870114 0 0 BMS1P20 96610 broad.mit.edu 37 22 22661312 22661312 + RNA SNP T T C rs3855711 TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr22:22661312T>C ENST00000426066.1 + 0 360 NR_027293.1 TGAATTTGTGTAGAACTTTGA 0.473000 4 99 0 0 0.411799 0 0 ODF1 4956 broad.mit.edu 37 8 103564035 103564035 + Missense_Mutation SNP G G T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr8:103564035G>T ENST00000285402.3 + 1 236 c.80G>T c.(79-81)tGc>tTc p.C27F NM_024410.3 NP_077721.2 Q14990 ODFP1_HUMAN outer dense fiber of sperm tails 1 27 cell differentiation|multicellular organismal development|spermatogenesis outer dense fiber structural molecule activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826) CAACTGAGATGCATCGACGAA 0.483000 79 285 3.12118e-38 3.6246e-38 0.870114 1 0 USP37 57695 broad.mit.edu 37 2 219360635 219360635 + Silent SNP C C A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr2:219360635C>A ENST00000258399.3 - 14 1732 c.1320G>T c.(1318-1320)ctG>ctT p.L440L USP37_ENST00000454775.1_Silent_p.L440L|USP37_ENST00000415516.1_Silent_p.L368L|USP37_ENST00000418019.1_Silent_p.L440L NM_020935.2 NP_065986 Q86T82 UBP37_HUMAN ubiquitin specific peptidase 37 440 ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1) 35 Renal(207;0.0915) Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487) TATCTTCTTTCAGCTGGTCCA 0.343000 36 63 4.62619e-21 5.04675e-21 0.796494 1 0 GRIN2C 2905 broad.mit.edu 37 17 72843023 72843023 + Missense_Mutation SNP A A C TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr17:72843023A>C ENST00000293190.5 - 10 2184 c.2038T>G c.(2038-2040)Ttc>Gtc p.F680V GRIN2C_ENST00000347612.4_Missense_Mutation_p.F680V NM_000835.3 NP_000826.2 Q14957 NMDE3_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2C 680 glutamate signaling pathway cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 33 all_lung(278;0.172)|Lung NSC(278;0.207) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836) ACCGTGCCGAAGCGGAAAGGT 0.612000 104 260 0 0 0.870114 0 0 RPP25 54913 broad.mit.edu 37 15 75248520 75248520 + Silent SNP G G A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr15:75248520G>A ENST00000322177.5 - 1 1285 c.405C>T c.(403-405)ctC>ctT p.L135L RPP25_ENST00000499788.2_Silent_p.L135L NM_017793.2 NP_060263.2 Q9BUL9 RPP25_HUMAN ribonuclease P/MRP 25kDa subunit 135 tRNA processing nucleus protein binding|ribonuclease P activity|RNA binding breast(1)|lung(1) 2 GTAGGATGGCGAGGCCGGGCA 0.697000 15 19 0 0 0.479597 0 0 TECTA 7007 broad.mit.edu 37 11 121028601 121028601 + Missense_Mutation SNP C C T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr11:121028601C>T ENST00000392793.1 + 14 4628 c.4357C>T c.(4357-4359)Cgt>Tgt p.R1453C TECTA_ENST00000264037.2_Missense_Mutation_p.R1453C O75443 TECTA_HUMAN tectorin alpha 1453 cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) CCGCTGTTTCCGTCGCAACGT 0.602000 9 177 0 0 0.361761 0 0 MED24 9862 broad.mit.edu 37 17 38178227 38178227 + Silent SNP G G T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr17:38178227G>T ENST00000394126.1 - 22 3097 c.2679C>A c.(2677-2679)gcC>gcA p.A893A MED24_ENST00000356271.3_Silent_p.A855A|MED24_ENST00000394128.2_Silent_p.A868A|MED24_ENST00000394127.2_Silent_p.A855A|MED24_ENST00000501516.3_Silent_p.A887A O75448 MED24_HUMAN mediator complex subunit 24 868 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 41 Colorectal(19;0.000442) AAAGGATGTTGGCATCGTCCT 0.587000 75 129 8.79861e-51 1.03513e-50 0.870114 1 0 DNA2 1763 broad.mit.edu 37 10 70190242 70190242 + Missense_Mutation SNP G G A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr10:70190242G>A ENST00000399180.2 - 14 2416 c.2417C>T c.(2416-2418)tCa>tTa p.S806L DNA2_ENST00000358410.3_Missense_Mutation_p.S720L|DNA2_ENST00000399179.2_Intron P51530 DNA2L_HUMAN DNA replication helicase/nuclease 2 720 base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication mitochondrial nucleoid|nucleoplasm 5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1) 20 AATGGACTTTGATCTGCAAAT 0.348000 7 13 0 0 0.278610 0 0 DOCK10 55619 broad.mit.edu 37 2 225653783 225653783 + Missense_Mutation SNP C C G TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr2:225653783C>G ENST00000409592.3 - 48 5511 c.5398G>C c.(5398-5400)Gag>Cag p.E1800Q DOCK10_ENST00000258390.7_Missense_Mutation_p.E1806Q Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 1806 DHR-2. GTP binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) GGTCTAACCTCATTGTATGGT 0.393000 6 21 0 0 0.217242 0 0 GBP6 163351 broad.mit.edu 37 1 89849217 89849217 + Missense_Mutation SNP G G C TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr1:89849217G>C ENST00000370456.4 + 9 1465 c.1372G>C c.(1372-1374)Gag>Cag p.E458Q GBP6_ENST00000535065.1_Missense_Mutation_p.E328Q NM_198460.2 NP_940862.2 Q6ZN66 GBP6_HUMAN guanylate binding protein family, member 6 458 GTP binding|GTPase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 42 Lung NSC(277;0.0908) all cancers(265;0.0108)|Epithelial(280;0.0398) ATAGGCAAAAGAGGTCTTCCA 0.408000 23 24 0 0 0.667858 0 0 NSD1 64324 broad.mit.edu 37 5 176709524 176709524 + Missense_Mutation SNP G G T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr5:176709524G>T ENST00000439151.2 + 19 5996 c.5951G>T c.(5950-5952)cGa>cTa p.R1984L NSD1_ENST00000347982.4_Missense_Mutation_p.R1715L|NSD1_ENST00000361032.4_Missense_Mutation_p.R1881L|NSD1_ENST00000354179.4_Missense_Mutation_p.R1715L NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 1984 SET. R -> Q (in SOTOSS; loss of enzyme activity). negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding p.R1984Q(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) TGCAGAGCTCGAATTCGCTAT 0.373000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 76 111 4.09166e-32 4.69107e-32 0.870114 1 0 INHA 3623 broad.mit.edu 37 2 220439578 220439578 + Missense_Mutation SNP C C A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr2:220439578C>A ENST00000243786.2 + 2 611 c.431C>A c.(430-432)gCc>gAc p.A144D INHA_ENST00000489456.1_3'UTR NM_002191.3 NP_002182.1 P05111 INHA_HUMAN inhibin, alpha 144 cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development inhibin A complex|inhibin-betaglycan-ActRII complex cytokine activity|growth factor activity|hormone activity|signal transducer activity large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1) 10 Renal(207;0.0183) Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802) GGCACAGCAGCCTCCAATAGC 0.642000 52 61 7.34454e-26 8.31458e-26 0.870114 1 0 DTWD1 56986 broad.mit.edu 37 15 49926748 49926748 + Missense_Mutation SNP C C A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr15:49926748C>A ENST00000251250.6 + 5 631 c.424C>A c.(424-426)Cct>Act p.P142T DTWD1_ENST00000558653.1_Missense_Mutation_p.P142T|DTWD1_ENST00000559223.1_3'UTR|DTWD1_ENST00000415425.1_Missense_Mutation_p.P55T|DTWD1_ENST00000403028.3_Missense_Mutation_p.P142T NM_020234.5 NP_064619.2 Q8N5C7 DTWD1_HUMAN DTW domain containing 1 142 endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 9 all_lung(180;0.0384) all cancers(107;3.27e-08)|GBM - Glioblastoma multiforme(94;7.6e-05) ACTCATTTTTCCTGGACCTCA 0.308000 35 51 8.16277e-20 8.8512e-20 0.827153 1 0 DENND4B 9909 broad.mit.edu 37 1 153907303 153907303 + Silent SNP C C T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr1:153907303C>T ENST00000361217.4 - 18 3124 c.2706G>A c.(2704-2706)caG>caA p.Q902Q NM_014856.2 NP_055671.2 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B 902 Gln-rich. NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 36 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) gctgctgctgctgttgctgct 0.642000 5 69 0 0 0.248553 0 0 P2RX2 22953 broad.mit.edu 37 12 133196152 133196152 + Missense_Mutation SNP C C A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr12:133196152C>A ENST00000389110.3 + 2 338 c.301C>A c.(301-303)Ccc>Acc p.P101T P2RX2_ENST00000351222.4_Intron|P2RX2_ENST00000348800.5_Missense_Mutation_p.P101T|P2RX2_ENST00000343948.4_Missense_Mutation_p.P101T|P2RX2_ENST00000352418.4_Missense_Mutation_p.A78D|P2RX2_ENST00000449132.2_Missense_Mutation_p.P101T|P2RX2_ENST00000350048.5_Missense_Mutation_p.P101T NM_170682.2|NM_170683.2|NM_174873.1 NP_733782.1|NP_733783.1|NP_777362.1 Q9UBL9 P2RX2_HUMAN purinergic receptor P2X, ligand-gated ion channel, 2 101 positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization integral to membrane ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3) 20 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0767) OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06) GTACGTGAAGCCCCCCGAGGT 0.721000 46 88 3.05275e-18 3.2708e-18 0.864702 1 0 KIAA1430 57587 broad.mit.edu 37 4 186111887 186111887 + Missense_Mutation SNP G G C TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr4:186111887G>C ENST00000458385.2 - 2 583 c.464C>G c.(463-465)tCt>tGt p.S155C KIAA1430_ENST00000296775.6_Missense_Mutation_p.S155C|KIAA1430_ENST00000514798.1_Missense_Mutation_p.S155C NM_020827.1 NP_065878.1 Q9P2B7 K1430_HUMAN KIAA1430 155 endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1) 11 all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243) all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165) AACGTTAGTAGATGGTTTAGC 0.383000 7 15 0 0 0.278610 0 0 AR 367 broad.mit.edu 37 X 66765006 66765006 + Silent SNP G G A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chrX:66765006G>A ENST00000374690.3 + 1 542 c.18G>A c.(16-18)ggG>ggA p.G6G AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Silent_p.G6G|AR_ENST00000504326.1_Silent_p.G6G NM_000044.3 NP_000035.2 P10275 ANDR_HUMAN androgen receptor 6 Modulating. cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport cytoplasm|nuclear chromatin|nucleoplasm androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3) 67 all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102) all_lung(315;1.3e-11) Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624) TGCAGTTAGGGCTGGGAAGGG 0.577000 Androgen Insensitivity Syndrome 37 8 0 0 0.827153 0 0 ADAMTS17 170691 broad.mit.edu 37 15 100673517 100673517 + Silent SNP G G A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr15:100673517G>A ENST00000268070.4 - 11 1582 c.1477C>T c.(1477-1479)Cta>Tta p.L493L NM_139057.2 NP_620688.2 Q8TE56 ATS17_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 17 493 Disintegrin. proteolysis intracellular|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2) 50 Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571) OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161) COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219) gcacacattagatgctGCAGG 0.547000 6 18 0 0 0.248553 0 0 SMARCC2 6601 broad.mit.edu 37 12 56567574 56567574 + Missense_Mutation SNP C C T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr12:56567574C>T ENST00000394023.3 - 17 1661 c.1556G>A c.(1555-1557)cGa>cAa p.R519Q SMARCC2_ENST00000550164.1_Missense_Mutation_p.R519Q|SMARCC2_ENST00000267064.4_Missense_Mutation_p.R519Q|SMARCC2_ENST00000347471.4_Missense_Mutation_p.R519Q|RP11-977G19.5_ENST00000553176.1_RNA NM_001130420.1 NP_001123892.1 Q8TAQ2 SMRC2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 519 SWIRM. chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex DNA binding|protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(18;0.123) TGGGGTTGGTCGACTCTCAGC 0.577000 141 233 0 0 0.870114 0 0 PNMAL1 55228 broad.mit.edu 37 19 46973800 46973800 + Missense_Mutation SNP C C G TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr19:46973800C>G ENST00000313683.10 - 2 798 c.493G>C c.(493-495)Gat>Cat p.D165H PNMAL1_ENST00000438932.2_Missense_Mutation_p.D165H|PNMAL1_ENST00000602246.1_Intron NM_001103149.1|NM_018215.3 NP_001096619.1|NP_060685.2 Q86V59 PNML1_HUMAN paraneoplastic Ma antigen family-like 1 165 cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Ovarian(192;0.00965)|all_neural(266;0.0459) OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427) ATCTCGGCATCCATGCAGAAG 0.622000 121 175 0 0 0.870114 0 0 MRGPRE 116534 broad.mit.edu 37 11 3249613 3249613 + Silent SNP C C T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr11:3249613C>T ENST00000389832.5 - 2 723 c.417G>A c.(415-417)ctG>ctA p.L139L AC109309.4_ENST00000418995.2_RNA|MRGPRE_ENST00000436689.2_Silent_p.L138L Q86SM8 MRGRE_HUMAN MAS-related GPR, member E 138 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 19 Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19) CACAGGTGGTCAGGTGGCGTG 0.706000 13 18 0 0 0.479597 0 0 TLL2 7093 broad.mit.edu 37 10 98155634 98155634 + Missense_Mutation SNP C C G TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr10:98155634C>G ENST00000357947.3 - 12 1753 c.1528G>C c.(1528-1530)Gag>Cag p.E510Q TLL2_ENST00000469598.1_5'UTR NM_012465.3 NP_036597.1 Q9Y6L7 TLL2_HUMAN tolloid-like 2 510 CUB 2. cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 58 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) GCACTCACCTCAAAAGCTTGG 0.478000 OREG0020398 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 42 61 0 0 0.859065 0 0 FAM71E1 112703 broad.mit.edu 37 19 50978631 50978631 + Silent SNP A A G TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr19:50978631A>G ENST00000600100.1 - 3 854 c.490T>C c.(490-492)Ttg>Ctg p.L164L FAM71E1_ENST00000595790.1_Silent_p.L148L Q6IPT2 F71E1_HUMAN family with sequence similarity 71, member E1 164 breast(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026) GCCAGAAGCAATAGGTCCGGG 0.647000 14 36 0 0 0.457914 0 0 LTN1 26046 broad.mit.edu 37 21 30365173 30365173 + Missense_Mutation SNP C C A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr21:30365173C>A ENST00000389194.2 - 1 97 c.92G>T c.(91-93)cGt>cTt p.R31L LTN1_ENST00000389195.2_Missense_Mutation_p.R31L|LTN1_ENST00000361371.5_5'UTR NM_015565.2 NP_056380.2 O94822 LTN1_HUMAN listerin E3 ubiquitin protein ligase 1 0 ligase activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2) 60 CCGGTTGACACGTCCGGGACA 0.622000 22 44 0.000229342 0.000235894 0.608945 1 0 SNX30 401548 broad.mit.edu 37 9 115600917 115600917 + Silent SNP C C T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr9:115600917C>T ENST00000374232.3 + 6 1118 c.954C>T c.(952-954)gaC>gaT p.D318D NM_001012994.1 NP_001013012.1 Q5VWJ9 SNX30_HUMAN sorting nexin family member 30 318 cell communication|protein transport cytoplasm phosphatidylinositol binding large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 TGACAGATGACATGACAGAAG 0.483000 38 98 0 0 0.827153 0 0 KMT2D 8085 broad.mit.edu 37 12 49438595 49438595 + Nonsense_Mutation SNP G G C TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr12:49438595G>C ENST00000301067.7 - 19 4894 c.4895C>G c.(4894-4896)tCa>tGa p.S1632* NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D AAGGGCATCTGAGGGCTCAGA 0.607000 86 122 0 0 0.870114 0 0 GAB1 2549 broad.mit.edu 37 4 144359278 144359278 + Missense_Mutation SNP G G A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr4:144359278G>A ENST00000262995.4 + 4 1147 c.720G>A c.(718-720)atG>atA p.M240I GAB1_ENST00000505913.1_Missense_Mutation_p.M137I|GAB1_ENST00000262994.4_Missense_Mutation_p.M240I NM_207123.2 NP_997006.1 Q13480 GAB1_HUMAN GRB2-associated binding protein 1 240 cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway cytosol SH3/SH2 adaptor activity breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 30 all_hematologic(180;0.158) AGCAGCAAATGATATACGACT 0.448000 23 42 0 0 0.654019 0 0 BACE1 23621 broad.mit.edu 37 11 117164662 117164662 + Silent SNP G G C TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr11:117164662G>C ENST00000313005.6 - 4 1090 c.630C>G c.(628-630)ctC>ctG p.L210L BACE1_ENST00000392937.6_Silent_p.L110L|BACE1_ENST00000428381.2_Intron|BACE1_ENST00000514464.1_5'UTR|BACE1_ENST00000528053.1_Silent_p.L210L|BACE1_ENST00000510630.1_Intron|BACE1_ENST00000513780.1_Intron|BACE1_ENST00000445823.2_Silent_p.L166L NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3 NP_036236|NP_620427.1|NP_620428.1|NP_620429.1 P56817 BACE1_HUMAN beta-site APP-cleaving enzyme 1 210 beta-amyloid metabolic process|membrane protein ectodomain proteolysis cell surface|cytoplasmic vesicle membrane|endoplasmic reticulum|endosome|integral to plasma membrane|trans-Golgi network aspartic-type endopeptidase activity|beta-aspartyl-peptidase activity|protein binding breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1) 19 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032) GCAGGGAGAAGAGGTTGGGAA 0.567000 57 73 0 0 0.870114 0 0 KMT2D 8085 broad.mit.edu 37 12 49425078 49425078 + Missense_Mutation SNP C C G TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr12:49425078C>G ENST00000301067.7 - 39 13409 c.13410G>C c.(13408-13410)aaG>aaC p.K4470N NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D GTTGCACATTCTTTGCCCGGA 0.617000 92 135 0 0 0.870114 0 0 FOS 2353 broad.mit.edu 37 14 75745827 75745827 + Splice_Site SNP G G A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr14:75745827G>A ENST00000303562.4 + 1 350 c.e1+1 FOS_ENST00000555242.1_Splice_Site|FOS_ENST00000556324.2_3'UTR|FOS_ENST00000535987.1_Splice_Site|FOS_ENST00000554617.1_Splice_Site NM_005252.3 NP_005243.1 P01100 FOS_HUMAN FBJ murine osteosarcoma viral oncogene homolog cellular response to reactive oxygen species|DNA methylation|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway protein dimerization activity|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112) BRCA - Breast invasive adenocarcinoma(234;0.0117) CAACGCGCAGGTAAGGCTGGC 0.692000 41 62 0 0 0.870114 0 0 HOXC11 3227 broad.mit.edu 37 12 54367330 54367330 + Missense_Mutation SNP G G A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr12:54367330G>A ENST00000546378.1 + 1 421 c.305G>A c.(304-306)cGg>cAg p.R102Q HOTAIR_ENST00000455246.1_RNA|HOXC11_ENST00000243082.4_Missense_Mutation_p.R102Q|HOTAIR_ENST00000424518.1_RNA O43248 HXC11_HUMAN homeobox C11 102 endoderm development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|ovary(1) 2 CTTATGCACCGGGAGTGCCTG 0.672000 T NUP98 AML 205 294 0 0 0.870114 0 0 SCN10A 6336 broad.mit.edu 37 3 38739749 38739749 + Silent SNP G G A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr3:38739749G>A ENST00000449082.2 - 27 4961 c.4962C>T c.(4960-4962)ctC>ctT p.L1654L NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1654 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) TAATCTGGAAGAGGCACAGCA 0.582000 48 88 0 0 0.870114 0 0 AZIN1 51582 broad.mit.edu 37 8 103851004 103851004 + Silent SNP C C T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr8:103851004C>T ENST00000337198.5 - 5 1580 c.417G>A c.(415-417)ttG>ttA p.L139L AZIN1_ENST00000522311.1_5'UTR|AZIN1_ENST00000347770.4_Silent_p.L139L NM_148174.2 NP_680479.1 O14977 AZIN1_HUMAN antizyme inhibitor 1 139 polyamine biosynthetic process|regulation of cellular amino acid metabolic process cytosol catalytic activity|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|stomach(1) 9 Lung NSC(17;0.000143)|all_lung(17;0.000294) OV - Ovarian serous cystadenocarcinoma(57;0.000196)|STAD - Stomach adenocarcinoma(118;0.0414) CAATTTTCTTCAATTCAATTT 0.328000 22 79 0 0 0.624587 0 0 NFE2L2 4780 broad.mit.edu 37 2 178098953 178098953 + Missense_Mutation SNP C C G TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr2:178098953C>G ENST00000397062.3 - 2 646 c.92G>C c.(91-93)gGa>gCa p.G31A NFE2L2_ENST00000446151.2_Missense_Mutation_p.G15A|NFE2L2_ENST00000464747.1_Missense_Mutation_p.G15A|NFE2L2_ENST00000397063.4_Missense_Mutation_p.G15A|NFE2L2_ENST00000423513.1_Missense_Mutation_p.G15A NM_006164.4 NP_006155.2 Q16236 NF2L2_HUMAN nuclear factor, erythroid 2-like 2 31 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.G31A(5) central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 158 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) TCGACTTACTCCAAGATCTAT 0.363000 Mis """NSCLC, HNSCC""" HNSCC(56;0.16) 22 39 0 0 0.608945 0 0 MRPL14 64928 broad.mit.edu 37 6 44081613 44081613 + Silent SNP G G A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr6:44081613G>A ENST00000372014.3 - 3 536 c.405C>T c.(403-405)tcC>tcT p.S135S NM_032111.2 NP_115487.2 Q6P1L8 RM14_HUMAN mitochondrial ribosomal protein L14 135 translation mitochondrion|ribosome structural constituent of ribosome breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 12 all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0181) CCAGCACCTTGGAATACTCGC 0.552000 46 63 0 0 0.859065 0 0 ALOX12B 242 broad.mit.edu 37 17 7976982 7976982 + Missense_Mutation SNP G G T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr17:7976982G>T ENST00000319144.4 - 13 2008 c.1748C>A c.(1747-1749)aCa>aAa p.T583K ALOX12B_ENST00000577351.1_Intron NM_001139.2 NP_001130.1 O75342 LX12B_HUMAN arachidonate 12-lipoxygenase, 12R type 583 Lipoxygenase. epidermis development|leukotriene biosynthetic process arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1) 16 TACCTGGCCTGTGTTGACAGC 0.572000 Multiple Myeloma(8;0.094) OREG0024152 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 33 63 2.20262e-25 2.46256e-25 0.769981 1 0 BRD2 6046 broad.mit.edu 37 6 32944408 32944408 + Missense_Mutation SNP C C T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr6:32944408C>T ENST00000395289.2 + 7 2496 c.895C>T c.(895-897)Cca>Tca p.P299S BRD2_ENST00000449085.2_Missense_Mutation_p.P252S|BRD2_ENST00000374825.4_Missense_Mutation_p.P299S|BRD2_ENST00000443797.2_Missense_Mutation_p.P179S|BRD2_ENST00000374831.4_Missense_Mutation_p.P299S|BRD2_ENST00000395287.1_Missense_Mutation_p.P299S P25440 BRD2_HUMAN bromodomain containing 2 299 spermatogenesis nucleus protein serine/threonine kinase activity central_nervous_system(3)|stomach(2) 5 TCCTGGTTCTCCAGCTAGCCC 0.552000 82 141 0 0 0.870114 0 0 OLFM3 118427 broad.mit.edu 37 1 102302527 102302527 + Missense_Mutation SNP C C T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr1:102302527C>T ENST00000370103.4 - 2 337 c.124G>A c.(124-126)Gat>Aat p.D42N OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000536598.1_5'UTR|OLFM3_ENST00000338858.5_Missense_Mutation_p.D62N|OLFM3_ENST00000359814.3_Missense_Mutation_p.D62N NM_058170.2 NP_477518.2 Q96PB7 NOE3_HUMAN olfactomedin 3 62 extracellular region breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 43 all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189) all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145) CACCGCCCATCAGGATCCTGA 0.488000 36 39 0 0 0.796494 0 0 PCDHB3 56132 broad.mit.edu 37 5 140482583 140482583 + Missense_Mutation SNP G G A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr5:140482583G>A ENST00000231130.2 + 1 2350 c.2350G>A c.(2350-2352)Gag>Aag p.E784K NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 784 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding p.E784K(1) NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GAGGGTTAGCGAGGCAAATCC 0.458000 105 187 0 0 0.870114 0 0 SLC4A1AP 22950 broad.mit.edu 37 2 27898484 27898484 + Silent SNP G G A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr2:27898484G>A ENST00000326019.6 + 6 1713 c.1431G>A c.(1429-1431)ctG>ctA p.L477L NM_018158.2 NP_060628.2 Q9BWU0 NADAP_HUMAN solute carrier family 4 (anion exchanger), member 1, adaptor protein 477 cytoplasm|nucleus double-stranded RNA binding|protein binding breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(172;0.155) GGACTGGCCTGATTGAGAAGA 0.398000 30 61 0 0 0.729181 0 0 PROS1 5627 broad.mit.edu 37 3 93646147 93646147 + Missense_Mutation SNP C C T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr3:93646147C>T ENST00000394236.3 - 2 497 c.181G>A c.(181-183)Gaa>Aaa p.E61K PROS1_ENST00000407433.1_5'UTR NM_000313.3 NP_000304.2 P07225 PROS_HUMAN protein S (alpha) 61 Gla. leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen calcium ion binding|endopeptidase inhibitor activity endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1) 46 Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170) TTGCACAGTTCTTCGATGCAT 0.413000 31 75 0 0 0.740014 0 0 GPR157 80045 broad.mit.edu 37 1 9164616 9164616 + Silent SNP G G C TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr1:9164616G>C ENST00000377411.4 - 4 1012 c.870C>G c.(868-870)ctC>ctG p.L290L GPR157_ENST00000414642.2_Silent_p.L225L NM_024980.4 NP_079256.4 Q5UAW9 GP157_HUMAN G protein-coupled receptor 157 290 integral to membrane|plasma membrane G-protein coupled receptor activity lung(4)|prostate(1) 5 all_lung(157;0.185) all_epithelial(116;5.02e-20)|all_lung(118;3.6e-06)|Lung NSC(185;7.93e-06)|Renal(390;0.000147)|Breast(348;0.000688)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.16e-07)|COAD - Colon adenocarcinoma(227;7.73e-05)|Kidney(185;0.000252)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.00178)|BRCA - Breast invasive adenocarcinoma(304;0.00186)|READ - Rectum adenocarcinoma(331;0.0642) AGAGAGAGAAGAGCCGAGTTC 0.612000 19 64 0 0 0.740014 0 0 TTN 7273 broad.mit.edu 37 2 179412928 179412928 + Missense_Mutation SNP C C T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr2:179412928C>T ENST00000589042.1 - 339 93649 c.93425G>A c.(93424-93426)gGc>gAc p.G31142D TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G22202D|TTN_ENST00000460472.2_Missense_Mutation_p.G22077D|TTN_ENST00000342992.6_Missense_Mutation_p.G28574D|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G22269D|TTN_ENST00000591111.1_Missense_Mutation_p.G29501D|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 29501 Ig-like 139. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GATCCGGCTGCCTCCATCGTG 0.498000 74 130 0 0 0.870114 0 0 C19orf80 55908 broad.mit.edu 37 19 11350372 11350372 + Missense_Mutation SNP C C T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr19:11350372C>T ENST00000252453.8 + 1 78 c.59C>T c.(58-60)tCa>tTa p.S20L DOCK6_ENST00000294618.7_Intron|C19orf80_ENST00000591200.1_Intron NM_018687.6 NP_061157.3 Q6UXH0 TD26_HUMAN chromosome 19 open reading frame 80 20 extracellular region NS(1)|breast(1)|endometrium(2) 4 CGGCCTGCCTCAGCGGCCCCC 0.642000 37 53 0 0 0.796494 0 0 CTNNA3 29119 broad.mit.edu 37 10 68381455 68381455 + Missense_Mutation SNP G G A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr10:68381455G>A ENST00000433211.2 - 10 1543 c.1369C>T c.(1369-1371)Cca>Tca p.P457S CTNNA3_ENST00000373744.4_Missense_Mutation_p.P457S NM_013266.2 NP_037398.2 Q9UI47 CTNA3_HUMAN catenin (cadherin-associated protein), alpha 3 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 95 CATACCTGTGGACACAAGGTT 0.284000 11 25 0 0 0.387290 0 0 PPARGC1A 10891 broad.mit.edu 37 4 23815883 23815883 + Missense_Mutation SNP C C G TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr4:23815883C>G ENST00000264867.2 - 8 1342 c.1223G>C c.(1222-1224)aGa>aCa p.R408T PPARGC1A_ENST00000509702.1_5'UTR NM_013261.3 NP_037393.1 Q9UBK2 PRGC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 alpha 408 androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5) 51 Breast(46;0.0503) TTCTAGTTGTCTAGAGTCTTG 0.448000 22 40 0 0 0.608945 0 0 CECR6 27439 broad.mit.edu 37 22 17600373 17600373 + Nonsense_Mutation SNP G G A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr22:17600373G>A ENST00000331437.3 - 1 1770 c.1645C>T c.(1645-1647)Cag>Tag p.Q549* CECR6_ENST00000399875.1_Nonsense_Mutation_p.Q194* NM_031890.3 NP_114096.1 Q9BXQ6 CECR6_HUMAN cat eye syndrome chromosome region, candidate 6 549 haematopoietic_and_lymphoid_tissue(1) 1 all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132) Colorectal(9;0.221) GAGCCTCCCTGAGGTGGTGGC 0.687000 8 20 0 0 0.335167 0 0 BAI1 575 broad.mit.edu 37 8 143565371 143565371 + Missense_Mutation SNP G G C TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr8:143565371G>C ENST00000517894.1 + 12 3058 c.2164G>C c.(2164-2166)Gag>Cag p.E722Q BAI1_ENST00000323289.5_Missense_Mutation_p.E722Q O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 722 axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7) 57 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) CCTGTTGGCAGAGGAGAATCG 0.587000 93 461 0 0 0.870114 0 0 POLA2 23649 broad.mit.edu 37 11 65046238 65046238 + Nonsense_Mutation SNP C C T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr11:65046238C>T ENST00000265465.3 + 6 1030 c.499C>T c.(499-501)Cga>Tga p.R167* POLA2_ENST00000541089.1_5'UTR NM_002689.2 NP_002680.2 Q14181 DPOA2_HUMAN polymerase (DNA directed), alpha 2, accessory subunit 167 DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication nucleoplasm DNA binding endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1) 11 Dacarbazine(DB00851) ACGAAGTAACCGAGGAGAAGT 0.453000 66 169 0 0 0.870114 0 0 GCC2 9648 broad.mit.edu 37 2 109103046 109103046 + Missense_Mutation SNP C C T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr2:109103046C>T ENST00000309863.6 + 16 4586 c.3872C>T c.(3871-3873)aCg>aTg p.T1291M NM_181453.3 NP_852118 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain containing 2 1291 Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 CACCAGCGTACGCTAAGTGCA 0.502000 40 43 0 0 0.812448 0 0 FGG 2266 broad.mit.edu 37 4 155530854 155530854 + Silent SNP C C T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr4:155530854C>T ENST00000404648.3 - 6 833 c.594G>A c.(592-594)ctG>ctA p.L198L FGG_ENST00000405164.1_Silent_p.L206L|FGG_ENST00000336098.3_Silent_p.L198L|FGG_ENST00000407946.1_Silent_p.L206L NM_000509.4 NP_000500.2 P02679 FIBG_HUMAN fibrinogen gamma chain 198 Fibrinogen C-terminal. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) GGTTAGCTTTCAGAGGTTTAA 0.393000 36 76 0 0 0.796494 0 0 OR51S1 119692 broad.mit.edu 37 11 4870194 4870194 + Missense_Mutation SNP A A T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr11:4870194A>T ENST00000322101.2 - 1 320 c.245T>A c.(244-246)gTc>gAc p.V82D MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001004758.1 NP_001004758.1 Q8NGJ8 O51S1_HUMAN olfactory receptor, family 51, subfamily S, member 1 82 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) CAGGGCAGTGACCAATCCAAT 0.547000 21 65 0 0 0.608945 0 0 TBC1D12 23232 broad.mit.edu 37 10 96162370 96162370 + Translation_Start_Site SNP G G A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr10:96162370G>A ENST00000225235.4 + 0 110 NM_015188.1 NP_056003.1 O60347 TBC12_HUMAN TBC1 domain family, member 12 intracellular Rab GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2) 20 Colorectal(252;0.0429) CCCACCCCCAGATGGTGGGTC 0.697000 31 51 0 0 0.804634 0 0 ABCC12 94160 broad.mit.edu 37 16 48177903 48177903 + Missense_Mutation SNP C C T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr16:48177903C>T ENST00000311303.3 - 2 538 c.193G>A c.(193-195)Gtg>Atg p.V65M ABCC12_ENST00000416054.1_Missense_Mutation_p.V65M|ABCC12_ENST00000448542.1_Missense_Mutation_p.V65M NM_033226.2 NP_150229.2 Q96J65 MRP9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 12 65 integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1) 90 all_cancers(37;0.0474)|all_lung(18;0.047) TAGCCTTTCACCATCACCGGC 0.547000 38 65 0 0 0.788014 0 0 TMEM50B 757 broad.mit.edu 37 21 34823156 34823156 + Missense_Mutation SNP T T C TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr21:34823156T>C ENST00000542230.2 - 7 660 c.446A>G c.(445-447)aAa>aGa p.K149R NM_006134.6 NP_006125.2 P56557 TM50B_HUMAN transmembrane protein 50B 149 endoplasmic reticulum|integral to membrane|plasma membrane breast(1)|kidney(1)|ovary(1)|skin(1) 4 TCTTCCAAATTTGTAGATCAG 0.348000 38 45 0 0 0.840704 0 0 POLK 51426 broad.mit.edu 37 5 74865308 74865308 + Missense_Mutation SNP G G C TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr5:74865308G>C ENST00000241436.4 + 4 571 c.399G>C c.(397-399)atG>atC p.M133I POLK_ENST00000352007.5_Missense_Mutation_p.M133I|POLK_ENST00000508526.1_Missense_Mutation_p.M133I|POLK_ENST00000504026.1_Missense_Mutation_p.M133I|POLK_ENST00000380481.3_Missense_Mutation_p.M43I|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000515295.1_Missense_Mutation_p.M133I NM_016218.2 NP_057302.1 Q9UBT6 POLK_HUMAN polymerase (DNA directed) kappa 133 UmuC. DNA replication|nucleotide-excision repair, DNA gap filling nucleus damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 27 all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42) TAGGATCAATGAGTATGCTGG 0.368000 DNA polymerases (catalytic subunits) 20 33 0 0 0.592651 0 0 EFEMP1 2202 broad.mit.edu 37 2 56108800 56108800 + Missense_Mutation SNP G G T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr2:56108800G>T ENST00000394555.2 - 5 1022 c.587C>A c.(586-588)tCc>tAc p.S196Y EFEMP1_ENST00000355426.3_Missense_Mutation_p.S196Y|EFEMP1_ENST00000394554.1_Missense_Mutation_p.S196Y|EFEMP1_ENST00000424836.2_Missense_Mutation_p.S138Y NM_001039348.2|NM_001039349.2 NP_001034437.1|NP_001034438.1 Q12805 FBLN3_HUMAN EGF containing fibulin-like extracellular matrix protein 1 196 EGF-like 2; calcium-binding (Potential). negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception extracellular space|proteinaceous extracellular matrix calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) ACATGCAAAGGATCCCCGTAA 0.507000 27 48 7.76418e-22 8.52167e-22 0.693898 1 0 CNPY4 245812 broad.mit.edu 37 7 99722457 99722457 + Silent SNP A A G TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr7:99722457A>G ENST00000262932.3 + 6 825 c.693A>G c.(691-693)ggA>ggG p.G231G RP11-506M12.1_ENST00000494221.1_RNA|CNPY4_ENST00000480692.1_3'UTR NM_152755.1 NP_689968.1 Q8N129 CNPY4_HUMAN canopy FGF signaling regulator 4 231 extracellular region breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 7 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) aggaaggggGAGACAAGATGA 0.547000 181 260 0 0 0.870114 0 0 CDH15 1013 broad.mit.edu 37 16 89261395 89261395 + Silent SNP G G A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr16:89261395G>A ENST00000289746.2 + 14 2342 c.2277G>A c.(2275-2277)gaG>gaA p.E759E NM_004933.2 NP_004924.1 P55291 CAD15_HUMAN cadherin 15, type 1, M-cadherin (myotubule) 759 adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane calcium ion binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(80;0.0261) AGGGCGATGAGGACCAGGACT 0.657000 28 32 0 0 0.706142 0 0 ALG2 85365 broad.mit.edu 37 9 101984145 101984145 + Missense_Mutation SNP G G A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr9:101984145G>A ENST00000476832.1 - 1 93 c.32C>T c.(31-33)tCg>tTg p.S11L NM_033087.3 NP_149078.1 Q9H553 ALG2_HUMAN ALG2, alpha-1,3/1,6-mannosyltransferase 11 S -> P (in dbSNP:rs11545137). dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in endoplasmic reticulum|protein N-linked glycosylation via asparagine|response to calcium ion endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein anchor|protein heterodimerization activity|protein N-terminus binding breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2) 22 Acute lymphoblastic leukemia(62;0.0559) CTTGGGAACCGAGTCCCGTTC 0.726000 18 27 0 0 0.557998 0 0 ZADH2 284273 broad.mit.edu 37 18 72913894 72913894 + Missense_Mutation SNP C C A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr18:72913894C>A ENST00000322342.3 - 2 900 c.611G>T c.(610-612)tGc>tTc p.C204F ZADH2_ENST00000537114.2_Missense_Mutation_p.C81F NM_175907.4 NP_787103.1 Q8N4Q0 ZADH2_HUMAN zinc binding alcohol dehydrogenase domain containing 2 204 peroxisome oxidoreductase activity|zinc ion binding endometrium(3)|large_intestine(3)|lung(8)|skin(1) 15 Esophageal squamous(42;0.131)|Prostate(75;0.155) READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216) ATCAGAAGAGCAGGTTCCAAT 0.468000 324 838 1.47391e-114 1.75698e-114 0.870114 1 0 MB21D2 151963 broad.mit.edu 37 3 192516318 192516318 + Missense_Mutation SNP C C G TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr3:192516318C>G ENST00000392452.2 - 2 1653 c.1333G>C c.(1333-1335)Ggg>Cgg p.G445R NM_178496.3 NP_848591.2 Q8IYB1 M21D2_HUMAN Mab-21 domain containing 2 445 endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 31 TTGGGGTCCCCTCCGTCAGAC 0.567000 69 217 0 0 0.870114 0 0 SP140 11262 broad.mit.edu 37 2 231113635 231113635 + Missense_Mutation SNP G G A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr2:231113635G>A ENST00000392045.3 + 9 1042 c.928G>A c.(928-930)Gaa>Aaa p.E310K SP140_ENST00000417495.3_Missense_Mutation_p.E257K|SP140_ENST00000420434.3_Missense_Mutation_p.E310K|SP140_ENST00000343805.6_Missense_Mutation_p.E284K|SP140_ENST00000350136.5_Missense_Mutation_p.E240K|SP140_ENST00000486687.2_Missense_Mutation_p.E234K NM_007237.4 NP_009168.4 Q13342 LY10_HUMAN SP140 nuclear body protein 310 defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) AGTCACTAATGAAGGAGAACC 0.398000 30 66 0 0 0.740014 0 0 SLC25A19 60386 broad.mit.edu 37 17 73269536 73269536 + Missense_Mutation SNP C C T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr17:73269536C>T ENST00000402418.3 - 6 1868 c.959G>A c.(958-960)cGc>cAc p.R320H SLC25A19_ENST00000416858.2_Missense_Mutation_p.R320H|RP11-649A18.12_ENST00000582668.1_RNA|SLC25A19_ENST00000442286.2_Missense_Mutation_p.R320H|RP11-649A18.12_ENST00000585075.1_RNA|SLC25A19_ENST00000375261.4_Missense_Mutation_p.R263H|SLC25A19_ENST00000580994.1_Missense_Mutation_p.R320H|SLC25A19_ENST00000320362.3_Missense_Mutation_p.R320H Q9HC21 TPC_HUMAN solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19 320 integral to membrane|mitochondrial inner membrane binding|deoxynucleotide transmembrane transporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1) 9 all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08) all cancers(21;6.82e-07)|Epithelial(20;6.86e-06) CTGCACTCAGCGCTGGCTGGC 0.567000 46 185 0 0 0.870114 0 0 CHD2 1106 broad.mit.edu 37 15 93563313 93563313 + Missense_Mutation SNP G G T rs61752830 TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr15:93563313G>T ENST00000394196.4 + 38 6046 c.4978G>T c.(4978-4980)Gac>Tac p.D1660Y CHD2_ENST00000557381.1_Missense_Mutation_p.D1660Y NM_001271.3 NP_001262.3 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 1660 regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 47 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) ATGGGGAAGCGACAGGCACCA 0.512000 25 42 1.1804e-14 1.24983e-14 0.667858 1 0 TNFAIP3 7128 broad.mit.edu 37 6 138192400 138192400 + Missense_Mutation SNP G G C TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr6:138192400G>C ENST00000237289.4 + 2 102 c.36G>C c.(34-36)ttG>ttC p.L12F NM_001270507.1|NM_001270508.1|NM_006290.3 NP_001257436.1|NP_001257437.1|NP_006281.1 P21580 TNAP3_HUMAN tumor necrosis factor, alpha-induced protein 3 12 anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide centrosome|cytosol|nucleus caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding p.0?(25) breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 225 Breast(32;0.135)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468) CTTTGTATTTGAGCAATATGC 0.388000 """D, N, F""" """marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma""" OREG0031869 type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET) 88 136 0 0 0.870114 0 0 TAF2 6873 broad.mit.edu 37 8 120807793 120807793 + Missense_Mutation SNP C C A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr8:120807793C>A ENST00000378164.2 - 9 1468 c.1170G>T c.(1168-1170)gaG>gaT p.E390D NM_003184.3 NP_003175 Q6P1X5 TAF2_HUMAN TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa 390 G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor TFIID complex|transcription factor TFTC complex metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 49 Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) AATGGCGGTACTCATTAACAC 0.343000 17 74 8.60227e-14 9.00238e-14 0.500413 1 0 LILRP2 79166 broad.mit.edu 37 19 55220844 55220844 + RNA SNP C C T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr19:55220844C>T ENST00000413439.1 + 0 833 CCCACTCTCTCAGCCCTGCCG 0.532000 34 31 0 0 0.779181 0 0 SFRP5 6425 broad.mit.edu 37 10 99527601 99527601 + Silent SNP G G T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr10:99527601G>T ENST00000266066.3 - 3 742 c.624C>A c.(622-624)atC>atA p.I208I NM_003015.3 NP_003006.2 Q5T4F7 SFRP5_HUMAN secreted frizzled-related protein 5 208 NTR. apoptosis|brain development|cell differentiation|embryo development|establishment or maintenance of cell polarity|gonad development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of protein kinase B signaling cascade|negative regulation of sequence-specific DNA binding transcription factor activity|vasculature development|visual perception cytoplasm|extracellular space|plasma membrane PDZ domain binding|Wnt receptor activity|Wnt-protein binding large_intestine(1)|lung(4) 5 Colorectal(252;0.234) Epithelial(162;4.98e-10)|all cancers(201;3.58e-08) TGATCTCCTTGATGCGCATTT 0.542000 107 228 2.96211e-45 3.46221e-45 0.870114 1 0 CYP4A11 1579 broad.mit.edu 37 1 47407091 47407091 + Silent SNP C C G TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr1:47407091C>G ENST00000310638.4 - 1 46 c.15G>C c.(13-15)gtG>gtC p.V5V CYP4A11_ENST00000462347.1_Silent_p.V5V|CYP4A11_ENST00000371904.4_Silent_p.V5V|CYP4A11_ENST00000457840.2_5'UTR|CYP4A11_ENST00000371905.1_Silent_p.V5V NM_000778.3 NP_000769.2 Q02928 CP4AB_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 11 5 V -> A (in Ref. 8; AA sequence). long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 36 NADH(DB00157) TGGGGCTCAGCACAGAGACAC 0.587000 7 127 0 0 0.335167 0 0 C16orf91 283951 broad.mit.edu 37 16 1476162 1476162 + Missense_Mutation SNP G G T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr16:1476162G>T ENST00000310355.1 - 3 460 c.461C>A c.(460-462)gCt>gAt p.A154D Q4G0I0 CSMT1_HUMAN chromosome 16 open reading frame 91 127 integral to membrane breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 11 GGACCTGGGAGCACCCACTGT 0.637000 43 270 2.59497e-14 2.73155e-14 0.834066 1 0 KCNT2 343450 broad.mit.edu 37 1 196434452 196434452 + Silent SNP T T A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr1:196434452T>A ENST00000367433.5 - 8 710 c.609A>T c.(607-609)atA>atT p.I203I KCNT2_ENST00000367431.4_Silent_p.I203I|KCNT2_ENST00000451324.2_5'UTR|KCNT2_ENST00000294725.9_Silent_p.I203I|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000609185.1_Silent_p.I203I NM_198503.2 NP_940905.2 Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 203 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 GTAATGTAGATATTAAAATCA 0.269000 5 68 0 0 0.217242 0 0 IMMP1L 196294 broad.mit.edu 37 11 31455050 31455050 + Missense_Mutation SNP C C A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr11:31455050C>A ENST00000278200.1 - 6 584 c.389G>T c.(388-390)gGa>gTa p.G130V IMMP1L_ENST00000526776.1_Missense_Mutation_p.G58V|IMMP1L_ENST00000534812.1_Missense_Mutation_p.G21V|IMMP1L_ENST00000533642.1_Missense_Mutation_p.G21V|IMMP1L_ENST00000532287.1_Missense_Mutation_p.G130V NM_144981.1 NP_659418.1 Q96LU5 IMP1L_HUMAN IMP1 inner mitochondrial membrane peptidase-like (S. cerevisiae) 130 proteolysis mitochondrial inner membrane serine-type peptidase activity breast(1)|cervix(1)|large_intestine(1)|lung(4) 7 Lung SC(675;0.225) TGGAATAGGTCCATAGCACCT 0.368000 36 56 7.04047e-22 7.82275e-22 0.812448 1 0 ZNF142 7701 broad.mit.edu 37 2 219503172 219503172 + Nonsense_Mutation SNP G G A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr2:219503172G>A ENST00000411696.2 - 9 5733 c.4954C>T c.(4954-4956)Cag>Tag p.Q1652* ZNF142_ENST00000449707.1_Nonsense_Mutation_p.Q1652* P52746 ZN142_HUMAN zinc finger protein 142 1652 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(207;0.0474) Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) CCCACACCCTGGTTTGGGTCG 0.622000 30 66 0 0 0.788014 0 0 SYT1 6857 broad.mit.edu 37 12 79611344 79611344 + Silent SNP C C A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr12:79611344C>A ENST00000261205.4 + 4 702 c.45C>A c.(43-45)gtC>gtA p.V15V SYT1_ENST00000393240.3_Silent_p.V15V|SYT1_ENST00000457153.2_Silent_p.V15V|SYT1_ENST00000552744.1_Silent_p.V15V NM_005639.2 NP_005630.1 P21579 SYT1_HUMAN synaptotagmin I 15 detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane 1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6) 25 CCCCGCCTGTCACCACTGTCG 0.517000 18 25 3.08376e-08 3.20854e-08 0.654019 1 0 SORCS1 114815 broad.mit.edu 37 10 108439408 108439408 + Missense_Mutation SNP T T C TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr10:108439408T>C ENST00000263054.6 - 11 1652 c.1645A>G c.(1645-1647)Agc>Ggc p.S549G SORCS1_ENST00000369698.1_Missense_Mutation_p.S84G|SORCS1_ENST00000344440.6_Missense_Mutation_p.S549G NM_001206570.1|NM_052918.4 NP_001193499.1|NP_443150.3 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 549 integral to membrane neuropeptide receptor activity|protein binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) ACTATGATGCTTGGAGCTGTG 0.413000 15 17 0 0 0.539581 0 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389561.2_Silent_p.Q2725Q Q96L91 EP400_HUMAN E1A binding protein p400 2761 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2724Q(16)|p.Q2725Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcagcaacaacagc 0.562000 6 66 0 0 0.278610 0 0 TTN 7273 broad.mit.edu 37 2 179413248 179413248 + Silent SNP C C T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr2:179413248C>T ENST00000589042.1 - 339 93329 c.93105G>A c.(93103-93105)ttG>ttA p.L31035L TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.L22095L|TTN_ENST00000460472.2_Silent_p.L21970L|TTN_ENST00000342992.6_Silent_p.L28467L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Silent_p.L22162L|TTN_ENST00000591111.1_Silent_p.L29394L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 29394 Fibronectin type-III 126. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CATCCCACATCAATGTAGCAG 0.507000 99 175 0 0 0.870114 0 0 KMT2B 9757 broad.mit.edu 37 19 36223287 36223287 + Missense_Mutation SNP C C T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr19:36223287C>T ENST00000222270.7 + 28 5837 c.5837C>T c.(5836-5838)tCa>tTa p.S1946L KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.S1946L NM_014727.1 NP_055542.1 lysine (K)-specific methyltransferase 2B CCTCCTACCTCAGTCGTCACA 0.677000 24 29 0 0 0.693898 0 0 SRCAP 10847 broad.mit.edu 37 16 30724116 30724116 + Missense_Mutation SNP G G A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr16:30724116G>A ENST00000262518.4 + 14 2495 c.2110G>A c.(2110-2112)Gag>Aag p.E704K SRCAP_ENST00000395059.2_Missense_Mutation_p.E704K|SRCAP_ENST00000344771.4_Missense_Mutation_p.E704K NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 704 Helicase ATP-binding. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) AGCCCAGAAAGAGAGGAAGCT 0.463000 77 125 0 0 0.870114 0 0 TAS2R13 50838 broad.mit.edu 37 12 11061864 11061864 + Missense_Mutation SNP C C G TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr12:11061864C>G ENST00000390677.2 - 1 297 c.34G>C c.(34-36)Gta>Cta p.V12L PRR4_ENST00000536668.1_Intron NM_023920.2 NP_076409.1 Q9NYV9 T2R13_HUMAN taste receptor, type 2, member 13 12 sensory perception of taste integral to membrane taste receptor activity breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1) 9 GCAATTATTACAAGAGTGAAG 0.388000 12 27 0 0 0.457914 0 0 PRAMEF18 391003 broad.mit.edu 37 1 13475073 13475073 + Silent SNP C C T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr1:13475073C>T ENST00000376126.2 - 3 1055 c.1056G>A c.(1054-1056)caG>caA p.Q352Q NM_001099850.1 NP_001093320.1 Q5VWM3 PRA18_HUMAN PRAME family member 18 352 lung(2)|ovary(1) 3 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) AGAAGAGGGTCTGAAGAGTGG 0.547000 145 223 0 0 0.870114 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144864168 144864168 + Missense_Mutation SNP T T G TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr1:144864168T>G ENST00000369359.4 - 39 6373 c.6335A>C c.(6334-6336)gAg>gCg p.E2112A PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.E2061A|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.E1976A|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.E1976A|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.E1870A Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 1976 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) AAGACGTTCCTCCCTGAAATG 0.478000 T PDGFRB MPD 106 453 0 0 0.870114 0 0 PPARGC1A 10891 broad.mit.edu 37 4 23814419 23814419 + Missense_Mutation SNP C C T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr4:23814419C>T ENST00000264867.2 - 10 2089 c.1970G>A c.(1969-1971)cGa>cAa p.R657Q PPARGC1A_ENST00000509702.1_5'UTR NM_013261.3 NP_037393.1 Q9UBK2 PRGC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 alpha 657 androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5) 51 Breast(46;0.0503) CTCAGACTCTCGCTTCTCATA 0.453000 68 97 0 0 0.870114 0 0 MBOAT7 79143 broad.mit.edu 37 19 54677813 54677813 + Silent SNP A A C TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr19:54677813A>C ENST00000245615.1 - 8 1824 c.1344T>G c.(1342-1344)ggT>ggG p.G448G MBOAT7_ENST00000431666.2_Silent_p.G375G|MBOAT7_ENST00000338624.6_Silent_p.G375G NM_024298.3 NP_077274.3 Q96N66 MBOA7_HUMAN membrane bound O-acyltransferase domain containing 7 448 phospholipid biosynthetic process integral to membrane acyltransferase activity endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 10 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GGCTGCCCCCACCTAAAGCCA 0.662000 10 105 0 0 0.479597 0 0 NPAP1 23742 broad.mit.edu 37 15 24921378 24921378 + Missense_Mutation SNP A A C TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr15:24921378A>C ENST00000329468.2 + 1 838 c.364A>C c.(364-366)Atg>Ctg p.M122L NM_018958.2 NP_061831.2 nuclear pore associated protein 1 TCCCAGCCGCATGTTCACTCT 0.647000 65 129 0 0 0.870114 0 0 PBLD 64081 broad.mit.edu 37 10 70048339 70048339 + Missense_Mutation SNP G G C TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr10:70048339G>C ENST00000358769.2 - 8 794 c.592C>G c.(592-594)Ctt>Gtt p.L198V PBLD_ENST00000336578.1_Missense_Mutation_p.L165V|PBLD_ENST00000432941.1_Missense_Mutation_p.L198V|PBLD_ENST00000309049.4_Missense_Mutation_p.L198V|PBLD_ENST00000495025.2_Missense_Mutation_p.L198V NM_022129.3 NP_071412.2 P30039 PBLD_HUMAN phenazine biosynthesis-like protein domain containing 198 biosynthetic process isomerase activity endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 21 TTAAGGGTAAGAATAAGCCCT 0.468000 58 61 0 0 0.870114 0 0 TTN 7273 broad.mit.edu 37 2 179412881 179412881 + Missense_Mutation SNP C C G TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr2:179412881C>G ENST00000589042.1 - 339 93696 c.93472G>C c.(93472-93474)Gac>Cac p.D31158H TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D22218H|TTN_ENST00000460472.2_Missense_Mutation_p.D22093H|TTN_ENST00000342992.6_Missense_Mutation_p.D28590H|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D22285H|TTN_ENST00000591111.1_Missense_Mutation_p.D29517H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 29517 Fibronectin type-III 127. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACCCAGAAGTCAGATCCCTTT 0.468000 88 163 0 0 0.870114 0 0 SVIL 6840 broad.mit.edu 37 10 29752434 29752434 + Silent SNP G G C TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr10:29752434G>C ENST00000375398.2 - 37 6713 c.6264C>G c.(6262-6264)ctC>ctG p.L2088L PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000455774.1_RNA|SVIL_ENST00000535393.1_Silent_p.L1002L|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000445521.1_RNA|PTCHD3P1_ENST00000446807.1_RNA|SVIL_ENST00000375400.3_Silent_p.L1662L|SVIL_ENST00000355867.4_Silent_p.L2088L O95425 SVIL_HUMAN supervillin 2088 cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 112 Breast(68;0.103) TGCAGTACTGGAGCACAGTCT 0.617000 12 43 0 0 0.435327 0 0 NIF3L1 60491 broad.mit.edu 37 2 201756682 201756682 + Missense_Mutation SNP G G A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr2:201756682G>A ENST00000409020.1 + 2 310 c.16G>A c.(16-18)Gta>Ata p.V6I NIF3L1_ENST00000409357.1_Missense_Mutation_p.V6I|NIF3L1_ENST00000409588.1_Missense_Mutation_p.V6I|NIF3L1_ENST00000359683.4_Intron|NIF3L1_ENST00000416651.1_Missense_Mutation_p.V6I Q9GZT8 NIF3L_HUMAN NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae) 6 positive regulation of transcription, DNA-dependent transcription factor binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(2) 13 GTCATCTTGCGTACGCCCAGT 0.438000 15 24 0 0 0.457914 0 0 UBE3C 9690 broad.mit.edu 37 7 157060438 157060438 + Missense_Mutation SNP G G C TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr7:157060438G>C ENST00000348165.5 + 23 3601 c.3241G>C c.(3241-3243)Gag>Cag p.E1081Q NM_014671.2 NP_055486.2 Q15386 UBE3C_HUMAN ubiquitin protein ligase E3C 1081 HECT. protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus|proteasome complex protein binding|ubiquitin-protein ligase activity central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1) 63 all_hematologic(28;0.0185)|all_epithelial(9;0.0664) OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.19) CGCTGGCTTTGAGCTGAGCTG 0.547000 104 130 0 0 0.870114 0 0 MAGI2 9863 broad.mit.edu 37 7 77797280 77797280 + Missense_Mutation SNP C C T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr7:77797280C>T ENST00000354212.4 - 15 2802 c.2549G>A c.(2548-2550)cGc>cAc p.R850H MAGI2_ENST00000419488.1_Missense_Mutation_p.R836H|MAGI2_ENST00000522391.1_Missense_Mutation_p.R850H NM_012301.3 NP_036433.2 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 2 850 PDZ 4. cell junction|synapse|synaptosome phosphatase binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) CTGCCCATTGCGGGCTGCGTG 0.547000 82 145 0 0 0.870114 0 0 ZNF250 58500 broad.mit.edu 37 8 146108082 146108082 + Silent SNP C C G TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr8:146108082C>G ENST00000292579.7 - 6 617 c.501G>C c.(499-501)ctG>ctC p.L167L ZNF250_ENST00000543949.1_Intron|ZNF250_ENST00000417550.2_Silent_p.L162L|ZNF250_ENST00000342660.6_Intron NM_001109689.3|NM_021061.4 NP_001103159.1|NP_066405.1 P15622 ZN250_HUMAN zinc finger protein 250 167 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(2)|lung(8)|skin(1) 15 all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.0654) AGTTTGGACTCAGACAGAAGC 0.478000 110 371 0 0 0.870114 0 0 PCF11 51585 broad.mit.edu 37 11 82877720 82877720 + Missense_Mutation SNP C C T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr11:82877720C>T ENST00000298281.4 + 5 2233 c.1781C>T c.(1780-1782)gCc>gTc p.A594V NM_015885.3 NP_056969.2 O94913 PCF11_HUMAN PCF11 cleavage and polyadenylation factor subunit 594 mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage factor complex cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1) 33 TCCAAGTCTGCCAAAAGATGG 0.358000 43 78 0 0 0.840704 0 0 GGA3 23163 broad.mit.edu 37 17 73235616 73235616 + Silent SNP G G A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr17:73235616G>A ENST00000245541.6 - 14 1836 c.1620C>T c.(1618-1620)ctC>ctT p.L540L GGA3_ENST00000582717.1_Silent_p.L468L|GGA3_ENST00000578348.1_Silent_p.L418L|GGA3_ENST00000582486.1_Silent_p.L468L|GGA3_ENST00000351904.7_Silent_p.L507L|GGA3_ENST00000538886.1_Silent_p.L418L NM_138619.2 NP_619525.1 Q9NZ52 GGA3_HUMAN golgi-associated, gamma adaptin ear containing, ARF binding protein 3 540 Unstructured hinge. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|endosome membrane|trans-Golgi network ADP-ribosylation factor binding breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 20 all cancers(21;2.39e-06)|Epithelial(20;2.38e-05) TGGTGGGGATGAGAGGGGAGG 0.667000 OREG0024729 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 24 0 0 0.278610 0 0 TTN 7273 broad.mit.edu 37 2 179412782 179412782 + Missense_Mutation SNP C C T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr2:179412782C>T ENST00000589042.1 - 339 93795 c.93571G>A c.(93571-93573)Gat>Aat p.D31191N TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D22251N|TTN_ENST00000460472.2_Missense_Mutation_p.D22126N|TTN_ENST00000342992.6_Missense_Mutation_p.D28623N|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D22318N|TTN_ENST00000591111.1_Missense_Mutation_p.D29550N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 29550 Fibronectin type-III 127. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TAGCCAGCATCATTCTTGGCC 0.458000 34 68 0 0 0.750413 0 0 LMOD2 442721 broad.mit.edu 37 7 123302716 123302716 + Missense_Mutation SNP G G A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr7:123302716G>A ENST00000458573.2 + 2 1233 c.1076G>A c.(1075-1077)cGt>cAt p.R359H LMOD2_ENST00000456238.2_Intron NM_207163.1 NP_997046.1 Q6P5Q4 LMOD2_HUMAN leiomodin 2 (cardiac) 359 cytoskeleton actin binding|tropomyosin binding p.R359H(2) AGGCAAAAACGTTTGCAGGAG 0.463000 58 77 0 0 0.870114 0 0 KIAA0930 23313 broad.mit.edu 37 22 45601515 45601515 + Missense_Mutation SNP G G T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr22:45601515G>T ENST00000336156.5 - 4 475 c.410C>A c.(409-411)tCt>tAt p.S137Y KIAA0930_ENST00000443310.3_Missense_Mutation_p.S119Y|KIAA0930_ENST00000251993.7_Missense_Mutation_p.S142Y|KIAA0930_ENST00000391627.2_Missense_Mutation_p.S103Y NM_001009880.1 NP_001009880.1 Q6ICG6 K0930_HUMAN KIAA0930 protein binding endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1) 15 GCTCACCTGAGATTTCTTCTT 0.597000 41 81 7.63091e-17 8.1276e-17 0.834066 1 0 SF3B1 23451 broad.mit.edu 37 2 198267484 198267484 + Missense_Mutation SNP G G A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr2:198267484G>A ENST00000335508.6 - 14 1964 c.1873C>T c.(1873-1875)Cgt>Tgt p.R625C NM_012433.2 NP_036565.2 O75533 SF3B1_HUMAN splicing factor 3b, subunit 1, 155kDa nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex protein binding p.R625C(5) NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 633 OV - Ovarian serous cystadenocarcinoma(117;0.246) GTTGTGTTACGGACATACTCA 0.433000 Mis myelodysplastic syndrome 30 49 0 0 0.740014 0 0 SCN4A 6329 broad.mit.edu 37 17 62020234 62020234 + Missense_Mutation SNP C C T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr17:62020234C>T ENST00000435607.1 - 23 4316 c.4240G>A c.(4240-4242)Gtt>Att p.V1414I SCN4A_ENST00000578147.1_Missense_Mutation_p.V1414I NM_000334.4 NP_000325.4 P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 1414 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) TTCCAGCCAACGGTGAAGTAG 0.572000 63 190 0 0 0.870114 0 0 FAM171A1 221061 broad.mit.edu 37 10 15326047 15326047 + Missense_Mutation SNP G G A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr10:15326047G>A ENST00000378116.4 - 2 161 c.155C>T c.(154-156)gCg>gTg p.A52V NM_001010924.1 NP_001010924.1 Q5VUB5 F1711_HUMAN family with sequence similarity 171, member A1 52 integral to membrane p.A52V(1) breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 52 CTCGATGAGCGCATCTGCTAC 0.552000 33 45 0 0 0.779181 0 0 UBR5 51366 broad.mit.edu 37 8 103277452 103277452 + Missense_Mutation SNP C C G TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr8:103277452C>G ENST00000520539.1 - 53 8083 c.7477G>C c.(7477-7479)Gat>Cat p.D2493H UBR5_ENST00000518205.1_Missense_Mutation_p.D221H|UBR5_ENST00000521922.1_Missense_Mutation_p.D2486H|UBR5_ENST00000220959.4_Missense_Mutation_p.D2492H NM_001282873.1|NM_015902.5 NP_001269802.1|NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 2493 Asp/Glu-rich (acidic).|HECT. cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) TCTGTATCATCTAAATCCATA 0.423000 78 38 0 0 0.870114 0 0 TNR 7143 broad.mit.edu 37 1 175324643 175324643 + Missense_Mutation SNP C C T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr1:175324643C>T ENST00000367674.2 - 17 3953 c.3245G>A c.(3244-3246)cGc>cAc p.R1082H TNR_ENST00000263525.2_Missense_Mutation_p.R1082H Q92752 TENR_HUMAN tenascin R Fibronectin type-III 9. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) TCTCACCTTGCGGCTTCCATC 0.512000 35 66 0 0 0.804634 0 0 ZC3H13 23091 broad.mit.edu 37 13 46539484 46539484 + Missense_Mutation SNP C C T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr13:46539484C>T ENST00000242848.4 - 16 4750 c.4402G>A c.(4402-4404)Gaa>Aaa p.E1468K ZC3H13_ENST00000282007.3_Missense_Mutation_p.E1469K|ZC3H13_ENST00000378921.2_Missense_Mutation_p.E424K Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 1468 nucleic acid binding|zinc ion binding cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 79 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) TCATCTAGTTCGTCATCACTG 0.438000 9 124 0 0 0.307466 0 0 IL5RA 3568 broad.mit.edu 37 3 3144421 3144421 + Missense_Mutation SNP G G C TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr3:3144421G>C ENST00000446632.2 - 4 740 c.166C>G c.(166-168)Caa>Gaa p.Q56E IL5RA_ENST00000256452.3_Missense_Mutation_p.Q56E|IL5RA_ENST00000383846.1_Missense_Mutation_p.Q56E|IL5RA_ENST00000418488.2_Missense_Mutation_p.Q56E|IL5RA_ENST00000430514.2_Missense_Mutation_p.Q56E|IL5RA_ENST00000456302.1_Missense_Mutation_p.Q56E|IL5RA_ENST00000445864.2_Missense_Mutation_p.Q56E|IL5RA_ENST00000438560.1_Missense_Mutation_p.Q56E|IL5RA_ENST00000311981.8_Missense_Mutation_p.Q56E NM_175726.3 NP_783853.1 Q01344 IL5RA_HUMAN interleukin 5 receptor, alpha 56 cell proliferation extracellular space|integral to membrane|plasma membrane interleukin-5 receptor activity cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2) 24 Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944) CTTTGCTCTTGATCAGGATTT 0.333000 20 27 0 0 0.575678 0 0 MTFP1 51537 broad.mit.edu 37 22 30822725 30822725 + Missense_Mutation SNP G G A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr22:30822725G>A ENST00000439838.1 + 7 604 c.604G>A c.(604-606)Gag>Aag p.E202K MTFP1_ENST00000266263.5_Missense_Mutation_p.E30K|MTFP1_ENST00000407550.3_Missense_Mutation_p.E30K|MTFP1_ENST00000355143.4_Missense_Mutation_p.E30K TGAGGTGGGCGAGGCTTTCCG 0.602000 OREG0026460 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 37 73 0 0 0.870114 0 0 ERF 2077 broad.mit.edu 37 19 42752674 42752674 + Silent SNP C C A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr19:42752674C>A ENST00000222329.4 - 4 1747 c.1590G>T c.(1588-1590)gtG>gtT p.V530V AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_Silent_p.V455V NM_006494.2 NP_006485.2 P50548 ERF_HUMAN Ets2 repressor factor 530 cell proliferation|regulation of transcription from RNA polymerase II promoter nucleus ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1) 17 Prostate(69;0.00682) GGTCAGAGCTCACCCGCCTTG 0.711000 48 72 2.68985e-26 3.06439e-26 0.870114 1 0 CROCCP3 114819 broad.mit.edu 37 1 16809717 16809735 + RNA DEL CCACTGATGTTATGCCCAG CCACTGATGTTATGCCCAG - rs142465067 by1000genomes TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr1:16809717_16809735delCCACTGATGTTATGCCCAG ENST00000263511.4 - 0 2004 NR_023386.1 GCATAAGGCTCCACTGATGTTATGCCCAGCCGCCGACTT 0.516 3 5 --- --- --- --- ARID1A 8289 broad.mit.edu 37 1 27105930 27105931 + Frame_Shift_Ins INS - - G rs140055856 TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr1:27105930_27105931insG ENST00000324856.7 + 20 5912_5913 c.5541_5542insG c.(5542-5544)gggfs p.G1848fs ARID1A_ENST00000540690.1_Frame_Shift_Ins_p.G176fs|ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.G1631fs|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.G1465fs NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 1848 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding p.G1848fs*6(3) ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) GGCGGATTGGTGGGGGGGACAC 0.579 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 70 100 --- --- --- --- POTEI 653269 broad.mit.edu 37 2 131258174 131258174 + Frame_Shift_Del DEL T T - TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr2:131258174delT ENST00000451531.2 - 4 1282 c.852delA c.(850-852)aaafs p.K284fs NM_001277406.1 NP_001264335.1 POTE ankyrin domain family, member I lung(11) 11 CCACTTGCTGTTTTTGCTCAT 0.343 26 179 --- --- --- --- POTEJ 653781 broad.mit.edu 37 2 131377655 131377655 + Frame_Shift_Del DEL A A - TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr2:131377655delA ENST00000409602.1 + 4 789 c.737delA c.(736-738)caafs p.Q246fs NM_001277083.1 NP_001264012.1 POTE ankyrin domain family, member J lung(5) 5 GTACATGAGCAAAAACAGCAA 0.333 4 8 --- --- --- --- TBP 6908 broad.mit.edu 37 6 170871013 170871014 + In_Frame_Ins INS - - CAG rs72320253 TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr6:170871013_170871014insCAG ENST00000392092.2 + 3 468_469 c.189_190insCAG c.(190-192)cag>CAGcag p.64_64Q>QQ TBP_ENST00000540980.1_In_Frame_Ins_p.44_44Q>QQ|TBP_ENST00000230354.6_In_Frame_Ins_p.64_64Q>QQ NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 64 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.Q63_Q64insQ(1)|p.Q63Q(1) 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) agcaacaacaacagcagcagca 0.550 34 83 --- --- --- --- TRGC2 6967 broad.mit.edu 37 7 38284884 38284885 + RNA INS - - GG rs138091320 by1000genomes TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr7:38284884_38284885insGG ENST00000436911.2 - 0 330 TTATTTGTCAAGgtgtgtgtgt 0.391 13 218 --- --- --- --- KMT2C 58508 broad.mit.edu 37 7 151873966 151873967 + Frame_Shift_Ins INS - - AG TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr7:151873966_151873967insAG ENST00000355193.2 - 38 8789_8790 c.8571_8572insCT c.(8569-8574)tctgctfs p.A2858fs KMT2C_ENST00000262189.6_Frame_Shift_Ins_p.A2858fs lysine (K)-specific methyltransferase 2C TCTGAGTGAGCAGAAGCCTGTG 0.411 48 118 --- --- --- --- OSR2 116039 broad.mit.edu 37 8 99961401 99961402 + Frame_Shift_Ins INS - - G TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr8:99961401_99961402insG ENST00000297565.4 + 2 717_718 c.221_222insG c.(220-225)gcggcgfs p.A75fs OSR2_ENST00000522510.1_Frame_Shift_Ins_p.A75fs|OSR2_ENST00000435298.2_Frame_Shift_Ins_p.A75fs|OSR2_ENST00000457907.2_Frame_Shift_Ins_p.A196fs|OSR2_ENST00000523368.1_Frame_Shift_Ins_p.A75fs NM_001142462.1 NP_001135934.1 Q8N2R0 OSR2_HUMAN odd-skipped related transciption factor 2 75 bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Breast(36;4.14e-07) OV - Ovarian serous cystadenocarcinoma(57;0.0136) GAGATGGCGGCGGCGCAGGGCC 0.649 8 510 --- --- --- --- LURAP1L 286343 broad.mit.edu 37 9 12775861 12775862 + In_Frame_Ins INS - - GGCGGCGGC rs3833707 by1000genomes TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr9:12775861_12775862insGGCGGCGGC ENST00000319264.3 + 1 842_843 c.147_148insGGCGGCGGC c.(148-150)ggc>GGCGGCGGCggc p.50_50G>GGGG RP11-3L8.3_ENST00000417638.1_RNA|LURAP1L_ENST00000489107.1_3'UTR NM_203403.1 NP_981948.1 Q8IV03 CI150_HUMAN leucine rich adaptor protein 1-like 50 Gly-rich. p.G49_G50insGGG(2)|p.G50_G52delGGG(1) gcggtggtggtggcggcggcgg 0.688 10 11 --- --- --- --- SLC24A1 9187 broad.mit.edu 37 15 65918024 65918025 + Frame_Shift_Ins INS - - T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr15:65918024_65918025insT ENST00000261892.6 + 2 1893_1894 c.1606_1607insT c.(1606-1608)attfs p.I536fs SLC24A1_ENST00000537259.1_Frame_Shift_Ins_p.I536fs|SLC24A1_ENST00000399033.4_Frame_Shift_Ins_p.I536fs|SLC24A1_ENST00000544319.2_Frame_Shift_Ins_p.I536fs|SLC24A1_ENST00000546330.1_Frame_Shift_Ins_p.I536fs|SLC24A1_ENST00000339868.6_Frame_Shift_Ins_p.I536fs NM_001254740.1|NM_004727.2 NP_001241669.1|NP_004718.1 O60721 NCKX1_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 536 response to light intensity|visual perception integral to plasma membrane|membrane fraction|outer membrane calcium, potassium:sodium antiporter activity|protein binding|symporter activity breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 TGTGTTCAACATTCTCTTTGTC 0.525 69 148 --- --- --- --- CNOT1 23019 broad.mit.edu 37 16 58619315 58619316 + Frame_Shift_Del DEL CT CT - TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr16:58619315_58619316delCT ENST00000317147.5 - 8 1064_1065 c.732_733delAG c.(730-735)ggagggfs p.GG244fs CNOT1_ENST00000441024.2_Frame_Shift_Del_p.GG244fs|CNOT1_ENST00000569240.1_Frame_Shift_Del_p.GG244fs NM_001265612.1|NM_016284.4 NP_001252541.1|NP_057368.3 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 244 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 87 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) TTAGCTACCCCTCCGGAATCAG 0.465 62 169 --- --- --- --- AFG3L1P 172 broad.mit.edu 37 16 90053811 90053811 + RNA DEL A A - TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr16:90053811delA ENST00000437774.1 + 0 731 NR_003226.1 gaggaggtggaggaggtggag 0.637 2 4 --- --- --- --- VEZF1 7716 broad.mit.edu 37 17 56056586 56056587 + In_Frame_Ins INS - - TGT TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr17:56056586_56056587insTGT ENST00000584396.1 - 5 1125_1126 c.1037_1038insACA c.(1036-1038)cat>caACAt p.345_346insQ VEZF1_ENST00000581208.1_In_Frame_Ins_p.354_355insQ Q14119 VEZF1_HUMAN vascular endothelial zinc finger 1 354 Poly-Gln. cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1) 10 AGCTTGTCACAtgttgttgttg 0.475 7 479 --- --- --- --- DOCK6 57572 broad.mit.edu 37 19 11348960 11348960 + Frame_Shift_Del DEL G G - rs12609039 by1000genomes TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr19:11348960delG ENST00000294618.7 - 15 1675 c.1664delC c.(1663-1665)ccgfs p.P555fs C19orf80_ENST00000591200.1_Intron NM_020812.3 NP_065863.2 Q96HP0 DOCK6_HUMAN dedicator of cytokinesis 6 555 DHR-1. P -> L (in dbSNP:rs12609039). blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 39 GAGGCTGTGCGGGTACACGTA 0.647 22 48 --- --- --- --- FFAR2 2867 broad.mit.edu 37 19 35940788 35940790 + In_Frame_Del DEL CTG CTG - TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr19:35940788_35940790delCTG ENST00000599180.2 + 2 252_254 c.172_174delCTG c.(172-174)ctgdel p.L62del FFAR2_ENST00000246549.2_In_Frame_Del_p.L62del|FFAR2_ENST00000601590.1_Intron O15552 FFAR2_HUMAN free fatty acid receptor 2 integral to plasma membrane G-protein coupled receptor activity|lipid binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1) 22 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) CGACCTCCTCCTGCTGCTGCTGC 0.645 7 135 --- --- --- ---