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 ULK4 54986 broad.mit.edu 37 3 41949428 41949428 + Missense_Mutation SNP C C A TCGA-EJ-5517-01A-01D-1576-08 TCGA-EJ-5517-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087a7f17-690b-460f-a9ce-ab90d316a64c 3a863bfc-2b84-4a57-8049-f41ebba5ab1c g.chr3:41949428C>A ENST00000301831.4 - 12 1553 c.1091G>T c.(1090-1092)cGt>cTt p.R364L ULK4_ENST00000420927.1_Missense_Mutation_p.R364L NM_017886.2 NP_060356.2 Q96C45 ULK4_HUMAN unc-51 like kinase 4 364 ATP binding|protein serine/threonine kinase activity p.R364L(2) breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1) 22 KIRC - Kidney renal clear cell carcinoma(284;0.214) GGGAGTAGGACGAGAACTGAA 0.408000 29 83 3.65163e-15 4.50626e-15 0.706142 1 0 FAM127A 8933 broad.mit.edu 37 X 134166693 134166693 + Missense_Mutation SNP T T A TCGA-EJ-5517-01A-01D-1576-08 TCGA-EJ-5517-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087a7f17-690b-460f-a9ce-ab90d316a64c 3a863bfc-2b84-4a57-8049-f41ebba5ab1c g.chrX:134166693T>A ENST00000257013.7 + 1 361 c.280T>A c.(280-282)Tac>Aac p.Y94N FAM127A_ENST00000464369.1_Intron NM_001078171.1 NP_001071639.1 A6ZKI3 F127A_HUMAN family with sequence similarity 127, member A 94 p.Y94N(1) endometrium(3)|urinary_tract(1) 4 Acute lymphoblastic leukemia(192;0.000127) CCTCAATGATTACCGGGGCTT 0.642000 29 16 0 0 0.760397 0 0 CENPT 80152 broad.mit.edu 37 16 67865092 67865092 + Missense_Mutation SNP G G C TCGA-EJ-5517-01A-01D-1576-08 TCGA-EJ-5517-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087a7f17-690b-460f-a9ce-ab90d316a64c 3a863bfc-2b84-4a57-8049-f41ebba5ab1c g.chr16:67865092G>C ENST00000445712.2 - 6 667 c.421C>G c.(421-423)Ctt>Gtt p.L141V CENPT_ENST00000562947.1_Intron|CENPT_ENST00000562787.1_Intron|CENPT_ENST00000440851.2_Intron|CENPT_ENST00000219172.3_Intron|CENPT_ENST00000564817.1_Intron Q96BT3 CENPT_HUMAN centromere protein T 0 mitotic prometaphase condensed chromosome kinetochore|cytosol|nucleus DNA binding NS(1)|breast(2)|lung(6)|urinary_tract(1) 10 Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124) TTTCCCCAAAGGCCAGCAGGG 0.592000 29 259 0 0 0.750413 0 0 TPCN1 53373 broad.mit.edu 37 12 113733848 113733848 + Silent SNP A A T TCGA-EJ-5517-01A-01D-1576-08 TCGA-EJ-5517-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087a7f17-690b-460f-a9ce-ab90d316a64c 3a863bfc-2b84-4a57-8049-f41ebba5ab1c g.chr12:113733848A>T ENST00000550785.1 + 29 2803 c.2634A>T c.(2632-2634)ccA>ccT p.P878P TPCN1_ENST00000392569.4_Silent_p.P738P|TPCN1_ENST00000335509.6_Silent_p.P806P|TPCN1_ENST00000541517.1_Silent_p.P878P NM_001143819.1 NP_001137291.1 Q9ULQ1 TPC1_HUMAN two pore segment channel 1 806 endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity p.P806P(1) cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1) 40 AGCAGCCCCCAGGCAGCCGCC 0.597000 23 41 0 0 0.667858 0 0 CAPNS2 84290 broad.mit.edu 37 16 55601019 55601019 + Silent SNP C C T TCGA-EJ-5517-01A-01D-1576-08 TCGA-EJ-5517-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087a7f17-690b-460f-a9ce-ab90d316a64c 3a863bfc-2b84-4a57-8049-f41ebba5ab1c g.chr16:55601019C>T ENST00000457326.2 + 1 436 c.351C>T c.(349-351)gaC>gaT p.D117D LPCAT2_ENST00000262134.5_Intron|LPCAT2_ENST00000565056.1_Intron NM_032330.1 NP_115706.1 Q96L46 CPNS2_HUMAN calpain, small subunit 2 117 cytoplasm|plasma membrane calcium ion binding p.D117D(1) central_nervous_system(1)|large_intestine(1)|lung(3)|prostate(2) 7 TTAAGACTGACGGTTTTAGTC 0.448000 7 333 0 0 0.248553 0 0 INADL 10207 broad.mit.edu 37 1 62614008 62614008 + Missense_Mutation SNP C C G TCGA-EJ-5517-01A-01D-1576-08 TCGA-EJ-5517-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087a7f17-690b-460f-a9ce-ab90d316a64c 3a863bfc-2b84-4a57-8049-f41ebba5ab1c g.chr1:62614008C>G ENST00000371158.2 + 42 5438 c.5324C>G c.(5323-5325)tCt>tGt p.S1775C NM_176877.2 NP_795352.2 Q8NI35 INADL_HUMAN InaD-like (Drosophila) 1775 intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding p.S1775C(1) breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3) 103 GAAAACATGTCTACAGGCTAC 0.448000 8 301 0 0 0.307466 0 0 PARD3B 117583 broad.mit.edu 37 2 206050517 206050517 + Missense_Mutation SNP G G C TCGA-EJ-5517-01A-01D-1576-08 TCGA-EJ-5517-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087a7f17-690b-460f-a9ce-ab90d316a64c 3a863bfc-2b84-4a57-8049-f41ebba5ab1c g.chr2:206050517G>C ENST00000406610.2 + 14 2161 c.1954G>C c.(1954-1956)Gag>Cag p.E652Q PARD3B_ENST00000351153.1_Missense_Mutation_p.E652Q|PARD3B_ENST00000349953.3_Missense_Mutation_p.E652Q|PARD3B_ENST00000358768.2_Missense_Mutation_p.E590Q|PARD3B_ENST00000462231.1_Missense_Mutation_p.E652Q NM_057177.6|NM_152526.5|NM_205863.3 NP_476518.4|NP_689739.4|NP_995585.2 Q8TEW8 PAR3L_HUMAN par-3 family cell polarity regulator beta 652 cell cycle|cell division endomembrane system|tight junction p.E591Q(1)|p.E652Q(1)|p.E590Q(1) breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 65 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) CGGATGGGCCGAGAGTGAAGT 0.443000 6 244 0 0 0.248553 0 0 TPTE 7179 broad.mit.edu 37 21 10908828 10908828 + Missense_Mutation SNP T T G TCGA-EJ-5517-01A-01D-1576-08 TCGA-EJ-5517-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087a7f17-690b-460f-a9ce-ab90d316a64c 3a863bfc-2b84-4a57-8049-f41ebba5ab1c g.chr21:10908828T>G ENST00000298232.7 - 22 1830 c.1463A>C c.(1462-1464)aAc>aCc p.N488T TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.N506T|TPTE_ENST00000342420.5_Missense_Mutation_p.N468T NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 506 C2 tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.N488T(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TTCATACCTGTTATTTTCAAT 0.294000 4 129 0 0 0.150653 0 0 CSPP1 79848 broad.mit.edu 37 8 68007736 68007736 + Missense_Mutation SNP T T C TCGA-EJ-5517-01A-01D-1576-08 TCGA-EJ-5517-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087a7f17-690b-460f-a9ce-ab90d316a64c 3a863bfc-2b84-4a57-8049-f41ebba5ab1c g.chr8:68007736T>C ENST00000262210.5 + 6 750 c.719T>C c.(718-720)aTt>aCt p.I240T CSPP1_ENST00000412460.1_5'UTR NM_024790.6 NP_079066.5 Q1MSJ5 CSPP1_HUMAN centrosome and spindle pole associated protein 1 275 centrosome|microtubule|spindle p.I240T(1) NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1) 49 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153) AATAGAAGAATTATTAAAAAA 0.373000 4 161 0 0 0.150653 0 0 PSRC1 84722 broad.mit.edu 37 1 109823645 109823645 + Missense_Mutation SNP C C T TCGA-EJ-5517-01A-01D-1576-08 TCGA-EJ-5517-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087a7f17-690b-460f-a9ce-ab90d316a64c 3a863bfc-2b84-4a57-8049-f41ebba5ab1c g.chr1:109823645C>T ENST00000438534.2 - 5 886 c.748G>A c.(748-750)Gtc>Atc p.V250I PSRC1_ENST00000369904.3_Intron|PSRC1_ENST00000369907.3_Missense_Mutation_p.V220I|PSRC1_ENST00000369909.2_Missense_Mutation_p.V220I|PSRC1_ENST00000409267.1_Missense_Mutation_p.V220I|PSRC1_ENST00000409138.2_Missense_Mutation_p.V250I|PSRC1_ENST00000369903.2_Missense_Mutation_p.V220I NM_001005290.3 NP_001005290.1 Q6PGN9 PSRC1_HUMAN proline/serine-rich coiled-coil 1 250 Pro/Ser-rich. cell division|microtubule bundle formation|mitotic metaphase plate congression|negative regulation of cell growth|positive regulation of microtubule polymerization|positive regulation of transcription, DNA-dependent|regulation of mitotic spindle organization cytosol|midbody|spindle pole microtubule binding p.V250I(1) endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|skin(1) 7 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213) GGGGCCAGGACGGATCTGATG 0.612000 24 42 0 0 0.693898 0 0 PASK 23178 broad.mit.edu 37 2 242079323 242079323 + Missense_Mutation SNP C C G TCGA-EJ-5517-01A-01D-1576-08 TCGA-EJ-5517-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087a7f17-690b-460f-a9ce-ab90d316a64c 3a863bfc-2b84-4a57-8049-f41ebba5ab1c g.chr2:242079323C>G ENST00000403638.3 - 4 668 c.577G>C c.(577-579)Gct>Cct p.A193P PASK_ENST00000405260.1_Missense_Mutation_p.A193P|PASK_ENST00000539818.1_Intron|PASK_ENST00000544142.1_Intron|PASK_ENST00000234040.4_Missense_Mutation_p.A193P|PASK_ENST00000358649.4_Missense_Mutation_p.A193P NM_001252124.1 NP_001239053.1 Q96RG2 PASK_HUMAN PAS domain containing serine/threonine kinase 193 regulation of transcription, DNA-dependent Golgi apparatus ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity p.A193P(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2) 53 all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968) ACCACCGCAGCGTGGCCGTCG 0.602000 18 62 0 0 0.575678 0 0 ZNF534 147658 broad.mit.edu 37 19 52937267 52937267 + Silent SNP G G A TCGA-EJ-5517-01A-01D-1576-08 TCGA-EJ-5517-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087a7f17-690b-460f-a9ce-ab90d316a64c 3a863bfc-2b84-4a57-8049-f41ebba5ab1c g.chr19:52937267G>A ENST00000332323.6 + 2 136 c.75G>A c.(73-75)ctG>ctA p.L25L ZNF534_ENST00000432303.2_Silent_p.L25L|ZNF534_ENST00000433050.1_Silent_p.L25L|ZNF534_ENST00000301085.4_Silent_p.L25L NM_001143939.1 NP_001137411.1 Q76KX8 ZN534_HUMAN zinc finger protein 534 25 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.L25L(2) central_nervous_system(1)|lung(1)|prostate(1)|skin(1) 4 GGAAATGCCTGGACCCTGGGC 0.478000 57 116 0 0 0.870114 0 0 SLC6A15 55117 broad.mit.edu 37 12 85266407 85266407 + Missense_Mutation SNP A A T TCGA-EJ-5517-01A-01D-1576-08 TCGA-EJ-5517-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087a7f17-690b-460f-a9ce-ab90d316a64c 3a863bfc-2b84-4a57-8049-f41ebba5ab1c g.chr12:85266407A>T ENST00000266682.5 - 8 1817 c.1276T>A c.(1276-1278)Tgt>Agt p.C426S SLC6A15_ENST00000309283.7_Missense_Mutation_p.C134S|SLC6A15_ENST00000552192.1_Missense_Mutation_p.C319S NM_182767.5 NP_877499.1 Q9H2J7 S6A15_HUMAN solute carrier family 6 (neutral amino acid transporter), member 15 426 cellular nitrogen compound metabolic process|leucine transport|proline transport integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity p.C426S(1) kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 44 TCAATTTTACAGGAATTGAGA 0.318000 4 159 0 0 0.217242 0 0 NKX3-1 4824 broad.mit.edu 37 8 23539003 23539003 + Missense_Mutation SNP G G C TCGA-EJ-5517-01A-01D-1576-08 TCGA-EJ-5517-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087a7f17-690b-460f-a9ce-ab90d316a64c 3a863bfc-2b84-4a57-8049-f41ebba5ab1c g.chr8:23539003G>C ENST00000380871.4 - 2 473 c.436C>G c.(436-438)Cag>Gag p.Q146E NKX3-1_ENST00000523261.1_Missense_Mutation_p.Q71E NM_006167.3 NP_006158.2 Q99801 NKX31_HUMAN NK3 homeobox 1 146 negative regulation of estrogen receptor binding|negative regulation of transcription, DNA-dependent|positive regulation of cell division|positive regulation of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter nucleus estrogen receptor activity|estrogen receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region sequence-specific DNA binding p.Q146E(1) large_intestine(3)|lung(4)|prostate(5)|skin(2) 14 Prostate(55;0.114) Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708) AGGTACTTCTGATGGCTGAAC 0.572000 5 308 0 0 0.184627 0 0 POM121L9P 0 broad.mit.edu 37 22 24659809 24659809 + RNA SNP G G A TCGA-EJ-5517-01A-01D-1576-08 TCGA-EJ-5517-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087a7f17-690b-460f-a9ce-ab90d316a64c 3a863bfc-2b84-4a57-8049-f41ebba5ab1c g.chr22:24659809G>A ENST00000414583.2 + 0 3334 NR_003714.1 CCCTATCTGCGCACCCGGAGG 0.612000 3 13 0 0 0.184627 0 0 KRT6C 286887 broad.mit.edu 37 12 52864359 52864359 + Missense_Mutation SNP T T A TCGA-EJ-5517-01A-01D-1576-08 TCGA-EJ-5517-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087a7f17-690b-460f-a9ce-ab90d316a64c 3a863bfc-2b84-4a57-8049-f41ebba5ab1c g.chr12:52864359T>A ENST00000252250.6 - 6 1180 c.1133A>T c.(1132-1134)aAg>aTg p.K378M NM_173086.4 NP_775109.2 P48668 K2C6C_HUMAN keratin 6C 378 Coil 2.|Rod. cytoskeleton organization keratin filament structural molecule activity p.K378M(1) cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2) 23 BRCA - Breast invasive adenocarcinoma(357;0.0828) AATCTCCTGCTTGGTGTTGCG 0.552000 18 181 0 0 0.557998 0 0 FOXA3 3171 broad.mit.edu 37 19 46375689 46375689 + Missense_Mutation SNP A A T TCGA-EJ-5517-01A-01D-1576-08 TCGA-EJ-5517-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087a7f17-690b-460f-a9ce-ab90d316a64c 3a863bfc-2b84-4a57-8049-f41ebba5ab1c g.chr19:46375689A>T ENST00000302177.2 + 2 623 c.426A>T c.(424-426)gaA>gaT p.E142D NM_004497.2 NP_004488.2 P55318 FOXA3_HUMAN forkhead box A3 142 brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding p.E142D(1) breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1) 13 Ovarian(192;0.0308)|all_neural(266;0.0476) OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236) CCTTGAGTGAAATCTACCAGT 0.567000 18 257 0 0 0.557998 0 0 DCHS2 54798 broad.mit.edu 37 4 155242138 155242138 + Silent SNP C C T TCGA-EJ-5517-01A-01D-1576-08 TCGA-EJ-5517-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087a7f17-690b-460f-a9ce-ab90d316a64c 3a863bfc-2b84-4a57-8049-f41ebba5ab1c g.chr4:155242138C>T ENST00000357232.3 - 14 3047 c.3048G>A c.(3046-3048)acG>acA p.T1016T NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 1016 Cadherin 8. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.T1016T(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) AATGAGATGTCGTCTCATAAT 0.378000 30 341 0 0 0.717897 0 0 TMEM132B 114795 broad.mit.edu 37 12 126068419 126068419 + Missense_Mutation SNP C C T TCGA-EJ-5517-01A-01D-1576-08 TCGA-EJ-5517-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087a7f17-690b-460f-a9ce-ab90d316a64c 3a863bfc-2b84-4a57-8049-f41ebba5ab1c g.chr12:126068419C>T ENST00000299308.3 + 5 1309 c.1301C>T c.(1300-1302)gCc>gTc p.A434V NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 434 integral to membrane p.A434V(1) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) TTGAACACTGCCATTCTCACT 0.542000 8 476 0 0 0.278610 0 0 COL11A2 1302 broad.mit.edu 37 6 33135619 33135619 + Missense_Mutation SNP C C A TCGA-EJ-5517-01A-01D-1576-08 TCGA-EJ-5517-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087a7f17-690b-460f-a9ce-ab90d316a64c 3a863bfc-2b84-4a57-8049-f41ebba5ab1c g.chr6:33135619C>A ENST00000341947.2 - 55 4198 c.3971G>T c.(3970-3972)gGc>gTc p.G1324V COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000395197.1_Missense_Mutation_p.G1264V|COL11A2_ENST00000374708.4_Missense_Mutation_p.G1238V|COL11A2_ENST00000357486.1_Missense_Mutation_p.G1303V|COL11A2_ENST00000361917.1_Missense_Mutation_p.G1217V|COL11A2_ENST00000374712.1_Missense_Mutation_p.G1243V|COL11A2_ENST00000374713.1_Missense_Mutation_p.G1277V|COL11A2_ENST00000374714.1_Missense_Mutation_p.G1298V NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 1324 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging p.G1324V(1) biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 ACCAGGCGAGCCAGCAGGACC 0.637000 3 37 0.00909568 0.0103441 0.150653 1 0 CCT6P1 0 broad.mit.edu 37 7 65222986 65222986 + RNA SNP G G T TCGA-EJ-5517-01A-01D-1576-08 TCGA-EJ-5517-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087a7f17-690b-460f-a9ce-ab90d316a64c 3a863bfc-2b84-4a57-8049-f41ebba5ab1c g.chr7:65222986G>T ENST00000442266.1 + 0 578 GAATTCTGGCGTTTTTTACAA 0.289000 3 26 0.150653 0.164866 0.150653 1 0 TNXB 7148 broad.mit.edu 37 6 32018029 32018029 + Missense_Mutation SNP C C T TCGA-EJ-5517-01A-01D-1576-08 TCGA-EJ-5517-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087a7f17-690b-460f-a9ce-ab90d316a64c 3a863bfc-2b84-4a57-8049-f41ebba5ab1c g.chr6:32018029C>T ENST00000375244.3 - 27 9386 c.9185G>A c.(9184-9186)cGc>cAc p.R3062H TNXB_ENST00000375247.2_Missense_Mutation_p.R3060H P22105 TENX_HUMAN tenascin XB 3107 Fibronectin type-III 22. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding p.R3127H(2) endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 CTCCCCCAGGCGAGGCTTGAT 0.627000 42 85 0 0 0.870114 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161578 90161578 + RNA SNP G G A rs13337896 by1000genomes TCGA-EJ-5517-01A-01D-1576-08 TCGA-EJ-5517-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087a7f17-690b-460f-a9ce-ab90d316a64c 3a863bfc-2b84-4a57-8049-f41ebba5ab1c g.chr16:90161578G>A ENST00000564451.1 + 0 931 TUBB8P7_ENST00000567960.1_RNA p.R105H(3) GCCAAGGGACGCTACACCGAA 0.587000 4 40 0 0 0.184627 0 0 EPC2 26122 broad.mit.edu 37 2 149526724 149526724 + Missense_Mutation SNP T T G TCGA-EJ-5517-01A-01D-1576-08 TCGA-EJ-5517-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087a7f17-690b-460f-a9ce-ab90d316a64c 3a863bfc-2b84-4a57-8049-f41ebba5ab1c g.chr2:149526724T>G ENST00000258484.6 + 8 1179 c.1145T>G c.(1144-1146)tTg>tGg p.L382W NM_015630.3 NP_056445.3 Q52LR7 EPC2_HUMAN enhancer of polycomb homolog 2 (Drosophila) 382 chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus p.L382W(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.0516) GTCTAGGTATTGTCCCCAGTA 0.378000 5 33 0 0 0.217242 0 0 TRAF3IP3 80342 broad.mit.edu 37 1 209948722 209948722 + Missense_Mutation SNP T T A TCGA-EJ-5517-01A-01D-1576-08 TCGA-EJ-5517-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087a7f17-690b-460f-a9ce-ab90d316a64c 3a863bfc-2b84-4a57-8049-f41ebba5ab1c g.chr1:209948722T>A ENST00000367024.1 + 10 1319 c.803T>A c.(802-804)gTa>gAa p.V268E TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.V248E|TRAF3IP3_ENST00000477431.1_Missense_Mutation_p.V4E|TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.V248E|TRAF3IP3_ENST00000367023.1_Missense_Mutation_p.V4E|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.V268E|TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.V248E Q9Y228 T3JAM_HUMAN TRAF3 interacting protein 3 268 integral to membrane protein binding p.V248E(1) breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 OV - Ovarian serous cystadenocarcinoma(81;0.045) ATGAAAAAAGTACTACTGGAG 0.428000 10 35 0 0 0.387290 0 0 CORIN 10699 broad.mit.edu 37 4 47679997 47679997 + Missense_Mutation SNP C C T TCGA-EJ-5517-01A-01D-1576-08 TCGA-EJ-5517-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087a7f17-690b-460f-a9ce-ab90d316a64c 3a863bfc-2b84-4a57-8049-f41ebba5ab1c g.chr4:47679997C>T ENST00000273857.4 - 9 1206 c.1207G>A c.(1207-1209)Gag>Aag p.E403K CORIN_ENST00000505909.1_Missense_Mutation_p.E366K|CORIN_ENST00000504584.1_Missense_Mutation_p.E366K|CORIN_ENST00000508498.1_Missense_Mutation_p.E264K|CORIN_ENST00000502252.1_Missense_Mutation_p.E336K NM_006587.2 NP_006578.2 Q9Y5Q5 CORIN_HUMAN corin, serine peptidase 403 LDL-receptor class A 4. peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity p.E403K(1) NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 79 TTGCAGTCCTCGTCACCATCA 0.512000 5 157 0 0 0.184627 0 0 DAAM2 23500 broad.mit.edu 37 6 39828787 39828787 + Silent SNP G G A TCGA-EJ-5517-01A-01D-1576-08 TCGA-EJ-5517-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087a7f17-690b-460f-a9ce-ab90d316a64c 3a863bfc-2b84-4a57-8049-f41ebba5ab1c g.chr6:39828787G>A ENST00000538976.1 + 3 434 c.252G>A c.(250-252)aaG>aaA p.K84K DAAM2_ENST00000494405.1_3'UTR|DAAM2_ENST00000405961.3_Silent_p.K84K|DAAM2_ENST00000398904.2_Silent_p.K84K|DAAM2_ENST00000274867.4_Silent_p.K84K NM_015345.3 NP_056160.2 Q86T65 DAAM2_HUMAN dishevelled associated activator of morphogenesis 2 84 GBD/FH3. actin cytoskeleton organization actin binding|Rho GTPase binding p.K84K(1) NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5) 49 Ovarian(28;0.0355)|Colorectal(47;0.196) ACTGCAGCAAGAAGAAGGTGC 0.502000 7 22 0 0 0.278610 0 0 PRR5 55615 broad.mit.edu 37 22 45128196 45128196 + Silent SNP G G C TCGA-EJ-5517-01A-01D-1576-08 TCGA-EJ-5517-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087a7f17-690b-460f-a9ce-ab90d316a64c 3a863bfc-2b84-4a57-8049-f41ebba5ab1c g.chr22:45128196G>C ENST00000403581.1 + 8 1158 c.549G>C c.(547-549)gtG>gtC p.V183V ARHGAP8_ENST00000517296.3_Silent_p.V160V|ARHGAP8_ENST00000389773.5_Intron|PRR5-ARHGAP8_ENST00000352766.7_Silent_p.V160V|PRR5_ENST00000336985.6_Silent_p.V160V|PRR5_ENST00000477331.1_3'UTR|PRR5-ARHGAP8_ENST00000361473.5_Intron NM_001198721.1 NP_001185650.1 proline rich 5 (renal) p.V160V(1)|p.V151V(1) central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1) 11 all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647) UCEC - Uterine corpus endometrioid carcinoma (28;0.168) CCCTCAGTGTGAAGCTAGAGG 0.682000 3 120 0 0 0.115264 0 0 SLC28A1 9154 broad.mit.edu 37 15 85447467 85447467 + Missense_Mutation SNP G G T TCGA-EJ-5517-01A-01D-1576-08 TCGA-EJ-5517-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087a7f17-690b-460f-a9ce-ab90d316a64c 3a863bfc-2b84-4a57-8049-f41ebba5ab1c g.chr15:85447467G>T ENST00000394573.1 + 7 803 c.601G>T c.(601-603)Gca>Tca p.A201S SLC28A1_ENST00000537624.1_Missense_Mutation_p.A201S|SLC28A1_ENST00000538177.1_Missense_Mutation_p.A201S|SLC28A1_ENST00000537703.1_Missense_Mutation_p.A123S|SLC28A1_ENST00000286749.3_Missense_Mutation_p.A201S|SLC28A1_ENST00000537216.1_Missense_Mutation_p.A201S NM_004213.3 NP_004204.3 O00337 S28A1_HUMAN solute carrier family 28 (concentrative nucleoside transporter), member 1 201 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding p.A201S(1) breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(143;0.0587) GCATCATTGCGCAGTGAGTGC 0.582000 5 229 0.184627 0.198303 0.184627 1 0 AMDHD2 51005 broad.mit.edu 37 16 2570856 2570856 + Missense_Mutation SNP A A G TCGA-EJ-5517-01A-01D-1576-08 TCGA-EJ-5517-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087a7f17-690b-460f-a9ce-ab90d316a64c 3a863bfc-2b84-4a57-8049-f41ebba5ab1c g.chr16:2570856A>G ENST00000302956.4 + 2 264 c.170A>G c.(169-171)gAc>gGc p.D57G ATP6C_ENST00000569317.1_Intron|AMDHD2_ENST00000293971.6_Missense_Mutation_p.D57G|AMDHD2_ENST00000413459.3_Missense_Mutation_p.D57G Q9Y303 NAGA_HUMAN amidohydrolase domain containing 2 57 N-acetylglucosamine metabolic process N-acetylglucosamine-6-phosphate deacetylase activity p.D57G(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2) 19 GAGCGGCGGGACTGCGGGGGC 0.692000 5 21 0 0 0.729181 0 0 PUM2 23369 broad.mit.edu 37 2 20490511 20490511 + Missense_Mutation SNP T T C TCGA-EJ-5517-01A-01D-1576-08 TCGA-EJ-5517-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087a7f17-690b-460f-a9ce-ab90d316a64c 3a863bfc-2b84-4a57-8049-f41ebba5ab1c g.chr2:20490511T>C ENST00000361078.2 - 9 1215 c.1193A>G c.(1192-1194)aAt>aGt p.N398S PUM2_ENST00000319801.5_Missense_Mutation_p.N398S|PUM2_ENST00000536417.1_Missense_Mutation_p.N342S|PUM2_ENST00000338086.5_Missense_Mutation_p.N398S|PUM2_ENST00000403432.1_Missense_Mutation_p.N398S Q8TB72 PUM2_HUMAN pumilio RNA-binding family member 2 398 Ala-rich.|Gln-rich. regulation of translation perinuclear region of cytoplasm|stress granule protein binding|RNA binding p.N398S(1) breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3) 42 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTGACCCTGATTGGGAGTAAG 0.443000 10 123 0 0 0.387290 0 0 TTC18 118491 broad.mit.edu 37 10 75072385 75072385 + Missense_Mutation SNP C C T TCGA-EJ-5517-01A-01D-1576-08 TCGA-EJ-5517-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087a7f17-690b-460f-a9ce-ab90d316a64c 3a863bfc-2b84-4a57-8049-f41ebba5ab1c g.chr10:75072385C>T ENST00000401621.2 - 11 1259 c.1139G>A c.(1138-1140)aGc>aAc p.S380N TTC18_ENST00000340329.3_Intron|TTC18_ENST00000394865.1_Missense_Mutation_p.S380N|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000310715.3_Missense_Mutation_p.S380N Q5T0N1 TTC18_HUMAN tetratricopeptide repeat domain 18 380 binding p.S380N(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Prostate(51;0.0119) CCGGAACAAGCTCAATAAACA 0.294000 9 292 0 0 0.307466 0 0 TAF1D 79101 broad.mit.edu 37 11 93471531 93471531 + Missense_Mutation SNP G G A TCGA-EJ-5517-01A-01D-1576-08 TCGA-EJ-5517-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087a7f17-690b-460f-a9ce-ab90d316a64c 3a863bfc-2b84-4a57-8049-f41ebba5ab1c g.chr11:93471531G>A ENST00000448108.2 - 3 853 c.203C>T c.(202-204)tCa>tTa p.S68L NM_024116.3 NP_077021.1 Q9H5J8 TAF1D_HUMAN TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa 68 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding p.S68L(1) large_intestine(1)|lung(3)|prostate(1)|skin(2) 7 TTCAAAAGATGAGTCACTTGA 0.363000 93 178 0 0 0.870114 0 0 PCDHGB7 0 broad.mit.edu 37 5 140798265 140798265 + Missense_Mutation SNP C C T TCGA-EJ-5517-01A-01D-1576-08 TCGA-EJ-5517-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087a7f17-690b-460f-a9ce-ab90d316a64c 3a863bfc-2b84-4a57-8049-f41ebba5ab1c g.chr5:140798265C>T ENST00000398594.2 + 1 839 c.839C>T c.(838-840)tCc>tTc p.S280F PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron NM_018927.3 NP_061750.1 p.S280F(1) central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3) 56 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATCACTTATTCCTTCTTTGGT 0.493000 30 43 0 0 0.729181 0 0 USP9X 8239 broad.mit.edu 37 X 41000651 41000651 + Silent SNP G G A TCGA-EJ-5517-01A-01D-1576-08 TCGA-EJ-5517-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087a7f17-690b-460f-a9ce-ab90d316a64c 3a863bfc-2b84-4a57-8049-f41ebba5ab1c g.chrX:41000651G>A ENST00000324545.7 + 9 1761 c.1128G>A c.(1126-1128)gaG>gaA p.E376E USP9X_ENST00000378308.2_Silent_p.E376E NM_001039590.2|NM_001039591.2 NP_001034679.2|NP_001034680.2 Q93008 USP9X_HUMAN ubiquitin specific peptidase 9, X-linked 376 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity p.E369E(1) NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 GTAATCCTGAGGAGGAAGAGT 0.363000 13 36 0 0 0.411799 0 0 FOXA2 3170 broad.mit.edu 37 20 22562683 22562683 + Missense_Mutation SNP G G C TCGA-EJ-5517-01A-01D-1576-08 TCGA-EJ-5517-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087a7f17-690b-460f-a9ce-ab90d316a64c 3a863bfc-2b84-4a57-8049-f41ebba5ab1c g.chr20:22562683G>C ENST00000419308.2 - 2 1381 c.1179C>G c.(1177-1179)caC>caG p.H393Q FOXA2_ENST00000377115.4_Missense_Mutation_p.H393Q|FOXA2_ENST00000319993.4_Missense_Mutation_p.H399Q NM_021784.4 NP_068556.2 Q9Y261 FOXA2_HUMAN forkhead box A2 393 Transactivation domain 2 (By similarity). cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6 cytoplasm|transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding p.H393Q(1) breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1) 22 Lung NSC(19;0.188) GTtggtggtggtggtggctgt 0.617000 3 91 0 0 0.115264 0 0 FAM13B 0 broad.mit.edu 37 5 137277736 137277736 + Splice_Site SNP T T C TCGA-EJ-5517-01A-01D-1576-08 TCGA-EJ-5517-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087a7f17-690b-460f-a9ce-ab90d316a64c 3a863bfc-2b84-4a57-8049-f41ebba5ab1c g.chr5:137277736T>C ENST00000033079.3 - 22 2974 c.e22-2 PKD2L2_ENST00000508883.1_Intron|FAM13B_ENST00000425075.2_Splice_Site|FAM13B_ENST00000420893.2_Splice_Site NM_016603.2 NP_057687.2 Q9NYF5 FA13B_HUMAN family with sequence similarity 13, member B regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity p.?(1) endometrium(4)|kidney(2)|lung(5) 11 AATTCAGGCCTAGAATTGAAA 0.368000 3 118 0 0 0.115264 0 0 DPP6 1804 broad.mit.edu 37 7 154667655 154667655 + Silent SNP C C T TCGA-EJ-5517-01A-01D-1576-08 TCGA-EJ-5517-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087a7f17-690b-460f-a9ce-ab90d316a64c 3a863bfc-2b84-4a57-8049-f41ebba5ab1c g.chr7:154667655C>T ENST00000404039.1 + 20 2318 c.1731C>T c.(1729-1731)ttC>ttT p.F577F DPP6_ENST00000377770.3_Silent_p.F641F|DPP6_ENST00000427557.1_Silent_p.F534F|DPP6_ENST00000332007.3_Silent_p.F579F NM_001039350.1|NM_001936.3|NM_130797.2 NP_001034439.1|NP_001927.3|NP_570629.2 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 641 cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity p.F577F(1)|p.F641F(1) NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) CTGAGAAGTTCGAGGTGAGCT 0.652000 4 19 0 0 0.184627 0 0 ZBTB3 79842 broad.mit.edu 37 11 62519844 62519844 + Missense_Mutation SNP G G C TCGA-EJ-5517-01A-01D-1576-08 TCGA-EJ-5517-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087a7f17-690b-460f-a9ce-ab90d316a64c 3a863bfc-2b84-4a57-8049-f41ebba5ab1c g.chr11:62519844G>C ENST00000394807.3 - 2 1568 c.1443C>G c.(1441-1443)ttC>ttG p.F481L NM_024784.3 NP_079060.1 Q9H5J0 ZBTB3_HUMAN zinc finger and BTB domain containing 3 481 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.F481L(1) breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2) 24 AAGAGCATGAGAAGGTCTTCC 0.552000 16 106 0 0 0.539581 0 0 PCDHB8 0 broad.mit.edu 37 5 140558062 140558062 + Silent SNP T T A TCGA-EJ-5517-01A-01D-1576-08 TCGA-EJ-5517-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087a7f17-690b-460f-a9ce-ab90d316a64c 3a863bfc-2b84-4a57-8049-f41ebba5ab1c g.chr5:140558062T>A ENST00000239444.2 + 1 692 c.447T>A c.(445-447)ccT>ccA p.P149P NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 149 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.P149P(1) NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCAGTCCTCCTGGGACTGCGT 0.413000 91 395 0 0 0.870114 0 0 OR2M3 127062 broad.mit.edu 37 1 248367150 248367150 + Missense_Mutation SNP C C T rs147728074 byFrequency TCGA-EJ-5517-01A-01D-1576-08 TCGA-EJ-5517-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087a7f17-690b-460f-a9ce-ab90d316a64c 3a863bfc-2b84-4a57-8049-f41ebba5ab1c g.chr1:248367150C>T ENST00000456743.1 + 1 819 c.781C>T c.(781-783)Cgg>Tgg p.R261W NM_001004689.1 NP_001004689.1 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, member 3 261 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R261W(1) endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 50 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) CATGTACATACGGCCCACATC 0.502000 61 385 0 0 0.870114 0 0 MT-RNR2 0 broad.mit.edu 37 MT 3061 3061 + RNA SNP G G A TCGA-EJ-5517-01A-01D-1576-08 TCGA-EJ-5517-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087a7f17-690b-460f-a9ce-ab90d316a64c 3a863bfc-2b84-4a57-8049-f41ebba5ab1c g.chrM:3061G>A ENST00000387347.2 + 0 1391 NR_039705.1 TTAAAGTCCTACGTGATCTGA 0.443000 2 1 0 0 0.115264 0 0 AIM2 9447 broad.mit.edu 37 1 159033322 159033322 + Frame_Shift_Del DEL T T - TCGA-EJ-5517-01A-01D-1576-08 TCGA-EJ-5517-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087a7f17-690b-460f-a9ce-ab90d316a64c 3a863bfc-2b84-4a57-8049-f41ebba5ab1c g.chr1:159033322delT ENST00000368130.4 - 5 1247 c.959delA c.(958-960)atfs p.N320fs AIM2_ENST00000481829.1_5'UTR NM_004833.1 NP_004824.1 O14862 AIM2_HUMAN absent in melanoma 2 320 HIN-200. cellular response to drug|immune response|interleukin-1 beta secretion mitochondrion|nucleus breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1) 16 all_hematologic(112;0.0429) TTTTTCTCCATTTTTTGACAG 0.408 209 379 --- --- --- --- TPR 7175 broad.mit.edu 37 1 186307316 186307316 + Frame_Shift_Del DEL T T - TCGA-EJ-5517-01A-01D-1576-08 TCGA-EJ-5517-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087a7f17-690b-460f-a9ce-ab90d316a64c 3a863bfc-2b84-4a57-8049-f41ebba5ab1c g.chr1:186307316delT ENST00000367478.3 - 31 4507 c.4211delA c.(4210-4212)atfs p.N1404fs NM_003292.2 NP_003283.2 P12270 TPR_HUMAN translocated promoter region, nuclear basket protein 1404 carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8) 123 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) TCTTACTTTATTTAGATCTTC 0.294 T NTRK1 papillary thyroid 27 195 --- --- --- --- AC007246.3 0 broad.mit.edu 37 2 39728670 39728670 + RNA DEL T T - rs76231821 TCGA-EJ-5517-01A-01D-1576-08 TCGA-EJ-5517-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087a7f17-690b-460f-a9ce-ab90d316a64c 3a863bfc-2b84-4a57-8049-f41ebba5ab1c g.chr2:39728670delT ENST00000449569.1 + 0 282 AC007246.3_ENST00000446698.1_RNA|AC007246.3_ENST00000443038.1_RNA|AC007246.3_ENST00000426083.1_RNA|AC007246.3_ENST00000422128.1_RNA NR_037875.1 CCCCCCCCCCttttttttttt 0.473 2 4 --- --- --- --- CNTN6 27255 broad.mit.edu 37 3 1262421 1262422 + Frame_Shift_Ins INS - - T TCGA-EJ-5517-01A-01D-1576-08 TCGA-EJ-5517-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087a7f17-690b-460f-a9ce-ab90d316a64c 3a863bfc-2b84-4a57-8049-f41ebba5ab1c g.chr3:1262421_1262422insT ENST00000446702.2 + 3 733_734 c.106_107insT c.(106-108)tttfs p.F36fs CNTN6_ENST00000350110.2_Frame_Shift_Ins_p.F36fs|CNTN6_ENST00000539053.1_5'UTR Q9UQ52 CNTN6_HUMAN contactin 6 36 Ig-like C2-type 1. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) ACATGATGTCATTTTTCCTTTG 0.401 8 324 --- --- --- --- SLC22A4 6583 broad.mit.edu 37 5 131676278 131676278 + Frame_Shift_Del DEL C C - TCGA-EJ-5517-01A-01D-1576-08 TCGA-EJ-5517-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087a7f17-690b-460f-a9ce-ab90d316a64c 3a863bfc-2b84-4a57-8049-f41ebba5ab1c g.chr5:131676278delC ENST00000200652.3 + 9 1639 c.1465delC c.(1465-1467)ccfs p.P489fs AC034220.3_ENST00000417795.1_RNA|AC034220.3_ENST00000437091.1_RNA NM_003059.2 NP_003050.2 Q9H015 S22A4_HUMAN solute carrier family 22 (organic cation/zwitterion transporter), member 4 489 body fluid secretion|sodium ion transport apical plasma membrane|integral to plasma membrane|mitochondrion ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1) 16 all_cancers(142;0.0752)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Carnitine(DB00583) CAGAATGCTGCCCTACATCGT 0.458 15 665 --- --- --- --- PMS2P4 0 broad.mit.edu 37 7 66762432 66762432 + RNA DEL G G - rs60169909 TCGA-EJ-5517-01A-01D-1576-08 TCGA-EJ-5517-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087a7f17-690b-460f-a9ce-ab90d316a64c 3a863bfc-2b84-4a57-8049-f41ebba5ab1c g.chr7:66762432delG ENST00000414507.1 - 0 184 gtctcaaaaagaaaaaaaaaa 0.408 4 9 --- --- --- ---