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 ZNF208 7757 broad.mit.edu 37 19 22155896 22155896 + Missense_Mutation SNP A A C TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr19:22155896A>C ENST00000397126.4 - 4 2088 c.1940T>G c.(1939-1941)aTt>aGt p.I647S ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) TGAGACCTTAATAAAGGTTTT 0.398000 3 66 0 0 1 0 0 SMARCA5 8467 broad.mit.edu 37 4 144449073 144449073 + Missense_Mutation SNP C C T TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr4:144449073C>T ENST00000283131.3 + 7 1316 c.854C>T c.(853-855)aCa>aTa p.T285I NM_003601.3 NP_003592.3 O60264 SMCA5_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 285 Helicase ATP-binding. CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding EWSR1/SMARCA5(2) endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_hematologic(180;0.158) GTATGTGTAACATCTTATGAA 0.323000 18 44 0 0 1 0 0 CCDC15 80071 broad.mit.edu 37 11 124857652 124857652 + Silent SNP G G A rs111966038 TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr11:124857652G>A ENST00000529051.1 + 8 1789 c.1530G>A c.(1528-1530)ttG>ttA p.L510L CCDC15_ENST00000344762.5_Silent_p.L510L Q0P6D6 CCD15_HUMAN coiled-coil domain containing 15 510 centrosome central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1) 23 all_hematologic(175;0.215) Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413) AGAATTTTTTGTCTAGAGACC 0.388000 3 109 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103444627 103444627 + Missense_Mutation SNP G G A TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr1:103444627G>A ENST00000358392.2 - 33 2997 c.2680C>T c.(2680-2682)Cgt>Tgt p.R894C COL11A1_ENST00000370096.3_Missense_Mutation_p.R882C|COL11A1_ENST00000353414.4_Missense_Mutation_p.R843C|COL11A1_ENST00000512756.1_Missense_Mutation_p.R766C NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 882 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging p.R894G(1)|p.R882G(1) NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) GTTGGACCACGCTGACCCCGA 0.363000 4 49 0 0 1 0 0 TMEM213 155006 broad.mit.edu 37 7 138482839 138482839 + Missense_Mutation SNP C C G TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr7:138482839C>G ENST00000422794.2 + 1 145 c.143C>G c.(142-144)aCa>aGa p.T48R TMEM213_ENST00000442682.2_5'UTR|TMEM213_ENST00000413208.1_5'UTR|TMEM213_ENST00000397602.3_5'UTR|ATP6V0A4_ENST00000353492.4_5'UTR|ATP6V0A4_ENST00000310018.2_5'UTR|TMEM213_ENST00000458494.1_5'UTR A2RRL7 TM213_HUMAN transmembrane protein 213 0 integral to membrane breast(1)|endometrium(3)|kidney(1)|lung(1) 6 GCACTCAGCACAGCCTCCAGC 0.667000 3 5 0 0 1 0 0 ASTL 431705 broad.mit.edu 37 2 96795627 96795627 + Silent SNP C C T TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr2:96795627C>T ENST00000342380.2 - 8 809 c.810G>A c.(808-810)tcG>tcA p.S270S NM_001002036.3 NP_001002036.3 Q6HA08 ASTL_HUMAN astacin-like metallo-endopeptidase (M12 family) 270 proteolysis metalloendopeptidase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2) 30 GGGTGATGTCCGAGGCACTCA 0.647000 4 68 0 0 1 0 0 SEMA3G 56920 broad.mit.edu 37 3 52472026 52472026 + Missense_Mutation SNP C C A TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr3:52472026C>A ENST00000231721.2 - 14 1698 c.1699G>T c.(1699-1701)Ggc>Tgc p.G567C NM_020163.1 NP_064548.1 Q9NS98 SEM3G_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G 567 multicellular organismal development extracellular region|membrane receptor activity kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1) 18 BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333) GCAGGGTTGCCGTGCCGGATG 0.701000 10 35 3.86212e-05 4.3099e-05 1 1 0 CHID1 66005 broad.mit.edu 37 11 899384 899384 + Silent SNP G G T TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr11:899384G>T ENST00000449825.1 - 7 920 c.564C>A c.(562-564)ggC>ggA p.G188G CHID1_ENST00000454838.2_Silent_p.G213G|CHID1_ENST00000336845.5_Silent_p.G213G|CHID1_ENST00000528581.1_Silent_p.G213G|CHID1_ENST00000436108.2_Silent_p.G188G|CHID1_ENST00000429789.2_Silent_p.G188G|CHID1_ENST00000526714.1_5'UTR|CHID1_ENST00000323541.7_Silent_p.G218G|CHID1_ENST00000323578.8_Silent_p.G188G NM_001142675.1 NP_001136147.1 Q9BWS9 CHID1_HUMAN chitinase domain containing 1 188 chitin catabolic process|innate immune response extracellular region|lysosome cation binding|chitinase activity p.G188G(1) endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 13 all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735) CCACCACGAAGCCATCGAAAT 0.622000 4 16 0.014758 0.0153563 1 1 0 RLTPR 146206 broad.mit.edu 37 16 67685160 67685160 + Missense_Mutation SNP G G A TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr16:67685160G>A ENST00000334583.6 + 23 2583 c.2255G>A c.(2254-2256)gGt>gAt p.G752D RLTPR_ENST00000545661.1_Missense_Mutation_p.G716D NM_001013838.1 NP_001013860.1 Q6F5E8 LR16C_HUMAN RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing 752 breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2) 18 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) GGGCCCCAGGGTGAAGCCGCT 0.602000 5 60 0 0 1 0 0 LETM2 137994 broad.mit.edu 37 8 38260146 38260146 + Missense_Mutation SNP G G A TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr8:38260146G>A ENST00000379957.4 + 7 1215 c.1088G>A c.(1087-1089)cGa>cAa p.R363Q LETM2_ENST00000524874.1_Missense_Mutation_p.R315Q|LETM2_ENST00000528827.1_3'UTR|LETM2_ENST00000523983.2_Missense_Mutation_p.R316Q|LETM2_ENST00000527710.1_Missense_Mutation_p.R149Q|LETM2_ENST00000297720.5_Missense_Mutation_p.R268Q NM_001199659.1 NP_001186588.1 Q2VYF4 LETM2_HUMAN leucine zipper-EF-hand containing transmembrane protein 2 363 LETM1. integral to membrane|mitochondrial inner membrane NS(1)|large_intestine(1)|lung(3)|prostate(2) 7 all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202) all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175) Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114) GAACAACTGCGACAACAGCTC 0.537000 4 57 0 0 1 0 0 LEPR 3953 broad.mit.edu 37 1 66081866 66081866 + Missense_Mutation SNP T T C TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr1:66081866T>C ENST00000349533.6 + 15 2356 c.2171T>C c.(2170-2172)gTt>gCt p.V724A LEPR_ENST00000344610.8_Missense_Mutation_p.V724A|LEPR_ENST00000371060.3_Missense_Mutation_p.V724A|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371058.1_Missense_Mutation_p.V724A|LEPR_ENST00000371059.3_Missense_Mutation_p.V724A NM_002303.5 NP_002294.2 P48357 LEPR_HUMAN leptin receptor 724 Fibronectin type-III 3. energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2) 36 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) GGTGCTTCTGTTGCAAATTTT 0.388000 4 56 0 0 1 0 0 ALX3 257 broad.mit.edu 37 1 110607211 110607211 + Nonsense_Mutation SNP G G A TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr1:110607211G>A ENST00000369792.4 - 2 679 c.592C>T c.(592-594)Cag>Tag p.Q198* NM_006492.2 NP_006483.2 O95076 ALX3_HUMAN ALX homeobox 3 198 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 6 all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135) GCCCTCACCTGTACCCGGGCC 0.612000 4 46 0 0 1 0 0 NDUFV1 4723 broad.mit.edu 37 11 67375932 67375932 + Silent SNP C C T TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr11:67375932C>T ENST00000322776.6 + 2 291 c.138C>T c.(136-138)taC>taT p.Y46Y NDUFV1_ENST00000532303.1_Intron|NDUFV1_ENST00000415352.2_Silent_p.Y39Y|NDUFV1_ENST00000529927.1_Silent_p.Y37Y NM_001166102.1|NM_007103.3 NP_001159574.1|NP_009034.2 P49821 NDUV1_HUMAN NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa 46 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I 4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2) 16 NADH(DB00157) CCAACCTGTACGGCCGCCATG 0.552000 4 227 0 0 1 0 0 TJP3 27134 broad.mit.edu 37 19 3730081 3730081 + Missense_Mutation SNP G G A rs140801428 byFrequency TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr19:3730081G>A ENST00000541714.2 + 4 676 c.214G>A c.(214-216)Gcg>Acg p.A72T TJP3_ENST00000589378.1_Missense_Mutation_p.A81T|TJP3_ENST00000382008.3_Missense_Mutation_p.A72T|TJP3_ENST00000587686.1_Missense_Mutation_p.A91T|TJP3_ENST00000262968.9_Missense_Mutation_p.A91T|TJP3_ENST00000539908.2_Missense_Mutation_p.A36T NM_001267560.1 NP_001254489.1 O95049 ZO3_HUMAN tight junction protein 3 72 PDZ 1. tight junction protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18) TGCCACCTCCGCGTTTGCCAT 0.597000 6 148 0 0 1 0 0 LTBP1 4052 broad.mit.edu 37 2 33488411 33488411 + Missense_Mutation SNP G G A TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr2:33488411G>A ENST00000404816.2 + 15 2922 c.2569G>A c.(2569-2571)Gct>Act p.A857T LTBP1_ENST00000404525.1_Missense_Mutation_p.A478T|LTBP1_ENST00000402934.1_Missense_Mutation_p.A478T|LTBP1_ENST00000390003.4_Missense_Mutation_p.A532T|LTBP1_ENST00000407925.1_Missense_Mutation_p.A531T|LTBP1_ENST00000354476.3_Missense_Mutation_p.A858T|LTBP1_ENST00000418533.2_Missense_Mutation_p.A531T Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 857 negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) AGCTCCTGAAGCTTCTACGTC 0.428000 13 89 0 0 1 0 0 ASIC2 40 broad.mit.edu 37 17 31355331 31355331 + Missense_Mutation SNP G G A TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr17:31355331G>A ENST00000225823.2 - 4 1939 c.1067C>T c.(1066-1068)aCc>aTc p.T356I ASIC2_ENST00000359872.6_Missense_Mutation_p.T305I|ASIC2_ENST00000448983.1_5'UTR NM_183377.1 NP_899233.1 Q16515 ACCN1_HUMAN acid-sensing (proton-gated) ion channel 2 305 central nervous system development|peripheral nervous system development|synaptic transmission integral to plasma membrane ligand-gated sodium channel activity|protein binding Amiloride(DB00594) CCTACAGGCGGTGATGCTGTA 0.582000 3 64 0 0 1 0 0 PHF3 23469 broad.mit.edu 37 6 64404530 64404530 + Silent SNP G G A rs141874226 TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr6:64404530G>A ENST00000262043.3 + 6 2896 c.2556G>A c.(2554-2556)caG>caA p.Q852Q PHF3_ENST00000393387.1_Silent_p.Q852Q Q92576 PHF3_HUMAN PHD finger protein 3 852 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6) 75 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) AAAAATGGCAGCTAGCTCCTC 0.363000 3 171 0 0 1 0 0 PTH2 113091 broad.mit.edu 37 19 49926533 49926533 + Missense_Mutation SNP G G C TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr19:49926533G>C ENST00000270631.1 - 1 165 c.64C>G c.(64-66)Ctg>Gtg p.L22V NM_178449.3 NP_848544.1 Q96A98 TIP39_HUMAN parathyroid hormone 2 22 neuropeptide signaling pathway extracellular region p.L22V(2) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836) GGCACCACcagcagcagcagc 0.692000 3 15 0 0 1 0 0 SCN2B 6327 broad.mit.edu 37 11 118039353 118039353 + Nonsense_Mutation SNP G G A TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr11:118039353G>A ENST00000278947.5 - 2 425 c.184C>T c.(184-186)Cag>Tag p.Q62* NM_004588.4 NP_004579.1 O60939 SCN2B_HUMAN sodium channel, voltage-gated, type II, beta subunit 62 Ig-like C2-type. synaptic transmission voltage-gated sodium channel complex voltage-gated sodium channel activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2) 7 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117) AGGGAGAACTGTTTGTGGTTC 0.592000 7 348 0 0 1 0 0 PDE4C 5143 broad.mit.edu 37 19 18322726 18322726 + Missense_Mutation SNP G G A TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr19:18322726G>A ENST00000355502.3 - 18 2505 c.1634C>T c.(1633-1635)gCt>gTt p.A545V AC068499.10_ENST00000594805.2_RNA|PDE4C_ENST00000447275.2_Missense_Mutation_p.A439V|PDE4C_ENST00000262805.11_Missense_Mutation_p.A513V|PDE4C_ENST00000539010.1_Missense_Mutation_p.A314V|PDE4C_ENST00000594465.2_Missense_Mutation_p.A545V|PDE4C_ENST00000594617.2_Missense_Mutation_p.A545V Q08493 PDE4C_HUMAN phosphodiesterase 4C, cAMP-specific 545 signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Dyphylline(DB00651) GCTCAGATCAGCACAGTGCAC 0.642000 3 80 0 0 1 0 0 SULF2 55959 broad.mit.edu 37 20 46295212 46295212 + Missense_Mutation SNP G G A rs140175454 TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr20:46295212G>A ENST00000359930.4 - 12 2448 c.1597C>T c.(1597-1599)Cgc>Tgc p.R533C SULF2_ENST00000361612.4_Missense_Mutation_p.R533C|SULF2_ENST00000484875.1_Missense_Mutation_p.R533C|SULF2_ENST00000467815.1_Missense_Mutation_p.R533C NM_018837.3 NP_061325.1 Q8IWU5 SULF2_HUMAN sulfatase 2 533 bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 GAGCGACTGCGGACATAGCTG 0.627000 3 156 0 0 1 0 0 COL27A1 85301 broad.mit.edu 37 9 116968050 116968050 + Silent SNP A A G TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr9:116968050A>G ENST00000356083.3 + 9 2572 c.2181A>G c.(2179-2181)ggA>ggG p.G727G NM_032888.2 NP_116277.2 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 727 Collagen-like 2.|Pro-rich.|Triple-helical region. cell adhesion extracellular matrix structural constituent central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 GGCAGCCAGGACCTGAGGGCA 0.587000 22 55 0 0 1 0 0 IMP4 92856 broad.mit.edu 37 2 131102232 131102232 + Missense_Mutation SNP G G A rs34815785 byFrequency TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr2:131102232G>A ENST00000259239.3 + 3 851 c.143G>A c.(142-144)cGa>cAa p.R48Q IMP4_ENST00000409935.1_Missense_Mutation_p.R48Q NM_033416.1 NP_219484.1 Q96G21 IMP4_HUMAN IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast) 48 Arg-rich. rRNA processing|translation nucleolus|ribonucleoprotein complex aminoacyl-tRNA ligase activity|ATP binding|protein binding central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1) 18 Colorectal(110;0.1) GAGTTACGCCGAGAGGCTCTG 0.552000 5 82 0 0 1 0 0 GPRASP2 114928 broad.mit.edu 37 X 101972035 101972035 + Silent SNP T T G TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chrX:101972035T>G ENST00000543253.1 + 5 3157 c.2238T>G c.(2236-2238)tcT>tcG p.S746S GPRASP2_ENST00000535209.1_Silent_p.S746S|GPRASP2_ENST00000332262.5_Silent_p.S746S NM_001004051.3|NM_001184874.2|NM_001184876.2 NP_001004051.1|NP_001171803.1|NP_001171805.1 G protein-coupled receptor associated sorting protein 2 breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 30 TGAATTTGTCTGAAAATCCTG 0.368000 5 53 0 0 1 0 0 CAMSAP3 57662 broad.mit.edu 37 19 7673045 7673045 + Missense_Mutation SNP C C T TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr19:7673045C>T ENST00000446248.2 + 7 837 c.736C>T c.(736-738)Cgt>Tgt p.R246C CAMSAP3_ENST00000160298.4_Missense_Mutation_p.R219C NM_001080429.2 NP_001073898.1 Q9P1Y5 CAMP3_HUMAN calmodulin regulated spectrin-associated protein family, member 3 219 CH. epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance cytoplasm|microtubule|zonula adherens microtubule minus-end binding cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2) 19 GGTGGCGCGACGTGCCCCCTG 0.682000 6 73 0 0 1 0 0 FREM2 341640 broad.mit.edu 37 13 39357215 39357215 + Missense_Mutation SNP G G T TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr13:39357215G>T ENST00000280481.7 + 5 5866 c.5650G>T c.(5650-5652)Gtg>Ttg p.V1884L NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 1884 Calx-beta 2. cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) AGAGCCAACTGTGTTTATTCC 0.408000 4 120 0.00024832 0.000273152 1 1 0 GUSBP1 0 broad.mit.edu 37 5 21491446 21491446 + RNA SNP G G T rs150396680 by1000genomes TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr5:21491446G>T ENST00000607545.1 + 0 179 NR_027026.1 TGAATTACCAGATCTCCGTCA 0.532000 3 15 0.00909568 0.00959407 1 1 0 ADAMTS15 170689 broad.mit.edu 37 11 130343428 130343428 + Silent SNP C C T TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr11:130343428C>T ENST00000299164.2 + 8 2565 c.2565C>T c.(2563-2565)tgC>tgT p.C855C NM_139055.2 NP_620686.1 Q8TE58 ATS15_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 15 855 TSP type-1 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1) 36 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215) CCGCGAGCTGCGGCAGTGGCC 0.721000 17 26 0 0 1 0 0 CPAMD8 27151 broad.mit.edu 37 19 17081776 17081776 + Missense_Mutation SNP G G T TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr19:17081776G>T ENST00000443236.1 - 18 2310 c.2279C>A c.(2278-2280)aCc>aAc p.T760N CPAMD8_ENST00000388925.4_Missense_Mutation_p.H502Q NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 713 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 AGCCTCATCGGTGTAGAGGCC 0.612000 21 48 3.62473e-10 4.36101e-10 1 1 0 LRRC8C 84230 broad.mit.edu 37 1 90178503 90178503 + Missense_Mutation SNP A A C TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr1:90178503A>C ENST00000370454.4 + 3 629 c.374A>C c.(373-375)aAg>aCg p.K125T RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron NM_032270.4 NP_115646.2 Q8TDW0 LRC8C_HUMAN leucine rich repeat containing 8 family, member C 125 endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 28 all_lung(203;0.126) all cancers(265;0.00756)|Epithelial(280;0.0313) TGGTATGCCAAGTATTTCCCT 0.433000 3 159 0 0 1 0 0 ATL2 64225 broad.mit.edu 37 2 38546101 38546101 + Missense_Mutation SNP C C T TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr2:38546101C>T ENST00000378954.4 - 3 425 c.424G>A c.(424-426)Ggc>Agc p.G142S ATL2_ENST00000332337.4_Missense_Mutation_p.G124S|ATL2_ENST00000546051.1_5'UTR|ATL2_ENST00000539122.1_5'UTR|ATL2_ENST00000452935.2_Missense_Mutation_p.G124S|ATL2_ENST00000406122.1_5'UTR|ATL2_ENST00000402054.1_5'UTR|ATL2_ENST00000419554.2_Missense_Mutation_p.G142S NM_001135673.1|NM_022374.2 NP_001129145.1|NP_071769.2 Q8NHH9 ATLA2_HUMAN atlastin GTPase 2 142 endoplasmic reticulum organization|Golgi organization|protein homooligomerization endoplasmic reticulum membrane|integral to membrane GTP binding|GTPase activity|identical protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 22 CTTTCACAGCCACCTCGCCAT 0.348000 24 240 0 0 1 0 0 NLRP6 171389 broad.mit.edu 37 11 281566 281566 + Missense_Mutation SNP A A G TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr11:281566A>G ENST00000534750.1 + 4 2037 c.1832A>G c.(1831-1833)gAg>gGg p.E611G NLRP6_ENST00000312165.5_Missense_Mutation_p.E611G NM_001276700.1 NP_001263629.1 P59044 NALP6_HUMAN NLR family, pyrin domain containing 6 611 Poly-Glu. cytoplasm ATP binding breast(1)|skin(1)|upper_aerodigestive_tract(2) 4 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122) GAGGAGGAGGAGGGAGAGGAG 0.662000 4 156 0 0 1 0 0 GPR108 56927 broad.mit.edu 37 19 6731293 6731293 + Splice_Site SNP C C A TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr19:6731293C>A ENST00000264080.7 - 16 1377 c.1350_splice c.e16-1 p.V451_splice GPR108_ENST00000430424.4_Splice_Site_p.V209_splice|GPR108_ENST00000598626.1_5'UTR NM_001080452.1 NP_001073921.1 Q9NPR9 GP108_HUMAN G protein-coupled receptor 108 451 integral to membrane breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1) 13 TAGCAGATGACCTGCAGGGGC 0.677000 9 44 2.17888e-05 2.46726e-05 1 1 0 DHCR7 1717 broad.mit.edu 37 11 71153385 71153385 + Silent SNP C C A TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr11:71153385C>A ENST00000355527.3 - 5 612 c.336G>T c.(334-336)acG>acT p.T112T DHCR7_ENST00000407721.2_Silent_p.T112T NM_001163817.1|NM_001360.2 NP_001157289.1|NP_001351.2 Q9UBM7 DHCR7_HUMAN 7-dehydrocholesterol reductase 112 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane 7-dehydrocholesterol reductase activity|protein binding endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1) 19 NADH(DB00157) CAGGGAGAGACGTGTACAGAA 0.587000 Smith-Lemli-Opitz syndrome 5 25 0.0381472 0.0386492 1 1 0 HLA-DQB2 3120 broad.mit.edu 37 6 32725596 32725596 + Silent SNP C C G rs115565146 by1000genomes TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr6:32725596C>G ENST00000435145.2 - 4 772 c.711G>C c.(709-711)ctG>ctC p.L237L HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000437316.2_Silent_p.L237L Q5SR06 Q5SR06_HUMAN major histocompatibility complex, class II, DQ beta 2 216 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response integral to membrane|MHC class II protein complex endometrium(1)|kidney(1)|lung(1)|prostate(2) 5 CGAGGAAGATCAGCCCCAGCA 0.562000 4 38 0 0 1 0 0 PRPF8 10594 broad.mit.edu 37 17 1563822 1563822 + Silent SNP G G A rs148287873 byFrequency TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr17:1563822G>A ENST00000572621.1 - 29 4954 c.4689C>T c.(4687-4689)caC>caT p.H1563H PRPF8_ENST00000304992.6_Silent_p.H1563H Q6P2Q9 PRP8_HUMAN pre-mRNA processing factor 8 1563 catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 77 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) GGATCTTGCCGTGCATGAAGA 0.498000 4 177 0 0 1 0 0 FBXO46 23403 broad.mit.edu 37 19 46215458 46215458 + Silent SNP G G A TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr19:46215458G>A ENST00000317683.3 - 2 1429 c.1296C>T c.(1294-1296)ccC>ccT p.P432P NM_001080469.1 NP_001073938.1 Q6PJ61 FBX46_HUMAN F-box protein 46 432 protein binding breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1) 15 Ovarian(192;0.179)|all_neural(266;0.224) OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201) CGTCTGGGCCGGGCGCAGTGG 0.716000 2 6 0 0 1 0 0 DCHS2 54798 broad.mit.edu 37 4 155253865 155253865 + Silent SNP G G A TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr4:155253865G>A ENST00000357232.3 - 9 1997 c.1998C>T c.(1996-1998)ccC>ccT p.P666P DCHS2_ENST00000339452.1_Silent_p.P1165P NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 666 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 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) ATCCGTCCTCGGGGATCCAAG 0.443000 7 148 0 0 1 0 0 GCK 2645 broad.mit.edu 37 7 44186174 44186174 + Missense_Mutation SNP G G A TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr7:44186174G>A ENST00000403799.3 - 8 1376 c.907C>T c.(907-909)Cgg>Tgg p.R303W GCK_ENST00000437084.1_Missense_Mutation_p.R286W|GCK_ENST00000345378.2_Missense_Mutation_p.R304W|GCK_ENST00000395796.3_Missense_Mutation_p.R302W NM_000162.3 NP_000153.1 P35557 HXK4_HUMAN glucokinase (hexokinase 4) 303 cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport cytosol|nucleoplasm ATP binding|glucokinase activity|glucose binding|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 37 AGCACAAGCCGCACCAGCTCG 0.622000 3 111 0 0 1 0 0 OR56A1 120796 broad.mit.edu 37 11 6048918 6048918 + Missense_Mutation SNP G G C TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr11:6048918G>C ENST00000316650.5 - 1 53 c.17C>G c.(16-18)gCg>gGg p.A6G NM_001001917.2 NP_001001917.2 Q8NGH5 O56A1_HUMAN olfactory receptor, family 56, subfamily A, member 1 6 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A6V(1) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2) 33 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCTGGGTGACGCCATAGGCTG 0.488000 31 65 0 0 1 0 0 LAMC3 10319 broad.mit.edu 37 9 133952674 133952674 + Missense_Mutation SNP G G A rs113975085 byFrequency TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr9:133952674G>A ENST00000361069.4 + 22 3863 c.3730G>A c.(3730-3732)Gca>Aca p.A1244T LAMC3_ENST00000480883.1_Intron NM_006059.3 NP_006050.3 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 1244 Domain II and I. cell adhesion basement membrane|membrane structural molecule activity endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 69 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) GCAAGTTGGCGCAGATACAGC 0.617000 5 99 0 0 1 0 0 HAO1 54363 broad.mit.edu 37 20 7875791 7875791 + Missense_Mutation SNP C C T TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr20:7875791C>T ENST00000378789.3 - 5 853 c.802G>A c.(802-804)Gtg>Atg p.V268M NM_017545.2 NP_060015.1 Q9UJM8 HAOX1_HUMAN hydroxyacid oxidase (glycolate oxidase) 1 268 FMN hydroxy acid dehydrogenase. cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process peroxisomal matrix FMN binding|glycolate oxidase activity|glyoxylate oxidase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 GTGGCTGGCACCCCATCGAGT 0.488000 35 107 0 0 1 0 0 OR2H2 7932 broad.mit.edu 37 6 29555896 29555896 + Missense_Mutation SNP T T G TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr6:29555896T>G ENST00000383640.2 + 1 214 c.175T>G c.(175-177)Ttt>Gtt p.F59V GABBR1_ENST00000355973.3_Intron NM_007160.3 NP_009091.3 O95918 OR2H2_HUMAN olfactory receptor, family 2, subfamily H, member 2 59 defense response|mating|sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1) 14 TCCAATGTACTTTTTCCTCTC 0.527000 15 108 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628245 29628245 + Missense_Mutation SNP G G A TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr20:29628245G>A ENST00000278882.3 + 6 627 c.247G>A c.(247-249)Gcc>Acc p.A83T FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T p.A83T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGCTTTGTTGGCCTCAAATAG 0.353000 4 151 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628243 29628243 + Missense_Mutation SNP T T C TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr20:29628243T>C ENST00000278882.3 + 6 625 c.245T>C c.(244-246)tTg>tCg p.L82S FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S p.L82S(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGGCTTTGTTGGCCTCAAAT 0.363000 4 151 0 0 1 0 0 PCDHGA3 0 broad.mit.edu 37 5 140725804 140725804 + Missense_Mutation SNP C C T TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr5:140725804C>T ENST00000253812.6 + 1 2204 c.2204C>T c.(2203-2205)aCg>aTg p.T735M PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018916.3|NM_032011.1 NP_061739.2|NP_114400.1 breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTGGCGAGTACGCCCGGCTCG 0.672000 5 93 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168105325 168105325 + Missense_Mutation SNP A A T TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr2:168105325A>T ENST00000409195.1 + 9 7512 c.7423A>T c.(7423-7425)Acg>Tcg p.T2475S XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.T2253S|XIRP2_ENST00000295237.9_Missense_Mutation_p.T2475S|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2300 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 CAGTGAACACACGGAGACAAA 0.403000 5 47 0 0 1 0 0 KCNN3 3782 broad.mit.edu 37 1 154841766 154841766 + Silent SNP C C T TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr1:154841766C>T ENST00000271915.3 - 1 990 c.675G>A c.(673-675)gaG>gaA p.E225E NM_002249.5 NP_002240.3 Q9UGI6 KCNN3_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 230 integral to membrane calmodulin binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1) 28 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) CATGGTTGTCCTCCCGGGAGG 0.647000 3 56 0 0 1 0 0 FAM47A 158724 broad.mit.edu 37 X 34150170 34150170 + Missense_Mutation SNP A A T TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chrX:34150170A>T ENST00000346193.3 - 1 277 c.226T>A c.(226-228)Ttt>Att p.F76I NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 76 NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 GGGAGTAAAAACTCGTCACGG 0.532000 7 28 0 0 1 0 0 OR5D18 219438 broad.mit.edu 37 11 55587340 55587340 + Missense_Mutation SNP G G A rs142474714 byFrequency TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr11:55587340G>A ENST00000333976.4 + 1 255 c.235G>A c.(235-237)Gct>Act p.A79T NM_001001952.1 NP_001001952.1 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, member 18 79 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A79S(1) NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_epithelial(135;0.208) CTCCATCATTGCTCCCAAGAT 0.408000 17 218 0 0 1 0 0 ZP1 22917 broad.mit.edu 37 11 60640728 60640728 + Silent SNP C C T rs151198562 TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr11:60640728C>T ENST00000278853.5 + 7 1206 c.1206C>T c.(1204-1206)ccC>ccT p.P402P NM_207341.2 NP_997224.2 P60852 ZP1_HUMAN zona pellucida glycoprotein 1 (sperm receptor) 402 ZP. single fertilization integral to membrane|plasma membrane|proteinaceous extracellular matrix p.P402P(1) breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 26 TGACCCAGCCCGGCCCCCTGC 0.602000 33 184 0 0 1 0 0 RP11-119F19.2 0 broad.mit.edu 37 10 81443821 81443821 + RNA SNP C C G rs150975459 by1000genomes TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr10:81443821C>G ENST00000600376.1 - 0 54 RP11-119F19.2_ENST00000596088.1_RNA GCAGCACCATCGCCTCAGACC 0.612000 3 27 0 0 1 0 0 FBXL2 25827 broad.mit.edu 37 3 33414823 33414823 + Missense_Mutation SNP C C A TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr3:33414823C>A ENST00000484457.1 + 7 522 c.431C>A c.(430-432)aCa>aAa p.T144K FBXL2_ENST00000538181.1_Missense_Mutation_p.T60K|FBXL2_ENST00000507198.1_Intron|FBXL2_ENST00000446237.3_5'UTR|FBXL2_ENST00000283627.6_3'UTR|FBXL2_ENST00000542085.1_5'UTR|FBXL2_ENST00000538892.1_Intron NM_012157.3 NP_036289.3 Q9UKC9 FBXL2_HUMAN F-box and leucine-rich repeat protein 2 144 interspecies interaction between organisms|proteolysis cytoplasm|membrane protein binding|ubiquitin-protein ligase activity endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1) 15 GTGTCTATTACAAACAGCTCC 0.428000 17 243 5.35267e-07 6.24478e-07 1 1 0 SERPINA6 866 broad.mit.edu 37 14 94776106 94776106 + Missense_Mutation SNP G G A TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr14:94776106G>A ENST00000341584.3 - 3 997 c.851C>T c.(850-852)aCg>aTg p.T284M NM_001756.3 NP_001747.2 P08185 CBG_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 284 regulation of proteolysis|transport extracellular space serine-type endopeptidase inhibitor activity|steroid binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 26 all_cancers(154;0.0482)|all_epithelial(191;0.166) COAD - Colon adenocarcinoma(157;0.211) Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620) CCTGTTAATCGTGTCCCGGCT 0.552000 5 145 0 0 1 0 0 ADAM9 8754 broad.mit.edu 37 8 38880740 38880740 + Silent SNP G G A TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr8:38880740G>A ENST00000487273.2 + 9 888 c.810G>A c.(808-810)ctG>ctA p.L270L NM_003816.2 NP_003807.1 Q13443 ADAM9_HUMAN ADAM metallopeptidase domain 9 270 Peptidase M12B. activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway extracellular space|integral to membrane|intrinsic to external side of plasma membrane collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153) LUSC - Lung squamous cell carcinoma(45;2.74e-07) ATGGAAACCTGATCAACATAG 0.413000 5 94 0 0 1 0 0 KIAA0930 23313 broad.mit.edu 37 22 45595785 45595785 + Silent SNP G G A TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr22:45595785G>A ENST00000336156.4 - 8 1049 c.984C>T c.(982-984)agC>agT p.S328S KIAA0930_ENST00000391627.2_Silent_p.S294S|KIAA0930_ENST00000443310.3_Silent_p.S310S|KIAA0930_ENST00000474515.1_5'UTR|KIAA0930_ENST00000251993.7_Silent_p.S333S NM_001009880.1 NP_001009880.1 Q6ICG6 K0930_HUMAN KIAA0930 328 protein binding endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1) 15 AGAACTCCTCGCTGTCGTTGG 0.612000 12 118 0 0 1 0 0 DDX60 55601 broad.mit.edu 37 4 169227602 169227602 + Silent SNP T T C TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr4:169227602T>C ENST00000393743.3 - 5 825 c.534A>G c.(532-534)caA>caG p.Q178Q NM_017631.5 NP_060101.3 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 178 ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4) 63 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) CATCAGATTCTTGCCCTGAGG 0.398000 6 47 0 0 1 0 0 KIAA1468 57614 broad.mit.edu 37 18 59919898 59919898 + Splice_Site SNP C C A TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr18:59919898C>A ENST00000256858.6 + 12 1983 c.1733_splice c.e12-1 p.Q579_splice KIAA1468_ENST00000398130.2_Splice_Site_p.Q579_splice Q9P260 K1468_HUMAN KIAA1468 579 binding p.Q579K(3) autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 47 Colorectal(73;0.186) ATTTTTCAGGCAAATGATACT 0.383000 6 48 2.0095e-06 2.30942e-06 1 1 0 CD209 30835 broad.mit.edu 37 19 7810767 7810767 + Missense_Mutation SNP G G A rs146082308 TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr19:7810767G>A ENST00000315599.7 - 4 407 c.385C>T c.(385-387)Cgg>Tgg p.R129W CD209_ENST00000354397.6_Missense_Mutation_p.R129W|CD209_ENST00000315591.8_Missense_Mutation_p.R105W|CD209_ENST00000602261.1_Missense_Mutation_p.R129W|CD209_ENST00000601951.1_Missense_Mutation_p.R105W|CD209_ENST00000601256.1_Missense_Mutation_p.R105W|CD209_ENST00000593821.1_Missense_Mutation_p.R85W|CD209_ENST00000394173.4_Intron|CD209_ENST00000593660.1_Missense_Mutation_p.R105W|CD209_ENST00000204801.8_Missense_Mutation_p.R85W|CD209_ENST00000301357.8_Missense_Mutation_p.R85W|CD209_ENST00000394161.5_Intron NM_001144895.1|NM_001144897.1|NM_021155.3 NP_001138367.1|NP_001138369.1|NP_066978.1 Q9NNX6 CD209_HUMAN CD209 molecule 129 7 X approximate tandem repeats. cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding p.R129W(4) endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 GCCTTCAGCCGGGTCAGCTCC 0.567000 3 146 0 0 1 0 0 ZNF652 22834 broad.mit.edu 37 17 47394309 47394309 + Missense_Mutation SNP A A G TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr17:47394309A>G ENST00000362063.2 - 2 1097 c.779T>C c.(778-780)cTg>cCg p.L260P ZNF652_ENST00000430262.2_Missense_Mutation_p.L260P NM_014897.2 NP_055712.1 Q9Y2D9 ZN652_HUMAN zinc finger protein 652 260 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 20 all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17) BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05) GTGCTTCTCCAGGTACCAGCG 0.478000 10 59 0 0 1 0 0 TGM4 7047 broad.mit.edu 37 3 44943340 44943340 + Silent SNP C C T TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr3:44943340C>T ENST00000296125.4 + 8 956 c.888C>T c.(886-888)caC>caT p.H296H NM_003241.3 NP_003232.2 P49221 TGM4_HUMAN transglutaminase 4 296 peptide cross-linking|protein polyamination acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 38 BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686) L-Glutamine(DB00130) ATTCAGCTCACGACACAGAAA 0.552000 9 37 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100681323 100681323 + Missense_Mutation SNP G G A TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr7:100681323G>A ENST00000306151.4 + 3 6690 c.6626G>A c.(6625-6627)aGc>aAc p.S2209N NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2209 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GAAGGTACCAGCATGCCAACC 0.498000 63 464 0 0 1 0 0 ADAM9 8754 broad.mit.edu 37 8 38880724 38880724 + Nonsense_Mutation SNP G G A TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr8:38880724G>A ENST00000487273.2 + 9 872 c.794G>A c.(793-795)tGg>tAg p.W265* NM_003816.2 NP_003807.1 Q13443 ADAM9_HUMAN ADAM metallopeptidase domain 9 265 Peptidase M12B. activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway extracellular space|integral to membrane|intrinsic to external side of plasma membrane collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153) LUSC - Lung squamous cell carcinoma(45;2.74e-07) CTGGAGATTTGGACCAATGGA 0.393000 4 84 0 0 1 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33630978 33630978 + Silent SNP C C T TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr5:33630978C>T ENST00000504830.1 - 13 2264 c.1929G>A c.(1927-1929)caG>caA p.Q643Q ADAMTS12_ENST00000352040.3_Intron|ADAMTS12_ENST00000504582.1_5'UTR NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 643 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 TCTCAGAAAACTGGCCATCTA 0.463000 HNSCC(64;0.19) 8 48 0 0 1 0 0 OLFM4 10562 broad.mit.edu 37 13 53624777 53624777 + Missense_Mutation SNP C C G TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr13:53624777C>G ENST00000219022.2 + 5 1482 c.1404C>G c.(1402-1404)gaC>gaG p.D468E NM_006418.4 NP_006409.3 Q6UX06 OLFM4_HUMAN olfactomedin 4 468 Olfactomedin-like. cell adhesion extracellular space breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1) 39 Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.13e-08) GCAAACTAGACATTGTAATGC 0.383000 21 33 0 0 1 0 0 MYBPHL 343263 broad.mit.edu 37 1 109840068 109840068 + Missense_Mutation SNP C C T rs34962971 TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr1:109840068C>T ENST00000357155.1 - 3 455 c.406G>A c.(406-408)Gcc>Acc p.A136T MYBPHL_ENST00000477962.1_Intron NM_001010985.2|NM_001265613.1 NP_001010985.2|NP_001252542.1 A2RUH7 MBPHL_HUMAN myosin binding protein H-like 136 Ig-like C2-type 1. central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2) 14 all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822) Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225) TCAATGGTGGCGGTGGCCTCC 0.612000 9 73 0 0 1 0 0 LDLRAD1 388633 broad.mit.edu 37 1 54474773 54474773 + Missense_Mutation SNP C C A TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr1:54474773C>A ENST00000371360.1 - 6 517 c.500G>T c.(499-501)tGg>tTg p.W167L LDLRAD1_ENST00000420619.1_Missense_Mutation_p.W128L|LDLRAD1_ENST00000545928.1_Missense_Mutation_p.W124L|LDLRAD1_ENST00000371362.3_Missense_Mutation_p.W78L NM_001010978.2 NP_001010978.2 Q5T700 LRAD1_HUMAN low density lipoprotein receptor class A domain containing 1 167 LDL-receptor class A 3; atypical. integral to membrane receptor activity large_intestine(3)|prostate(1)|skin(3) 7 ACAGCGCCACCACCCAGGGCC 0.592000 3 158 0.0215528 0.0221275 1 1 0 CXXC5 51523 broad.mit.edu 37 5 139060933 139060933 + Nonsense_Mutation SNP C C A TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr5:139060933C>A ENST00000302517.3 + 2 1539 c.825C>A c.(823-825)tgC>tgA p.C275* CXXC5_ENST00000511048.1_Nonsense_Mutation_p.C275*|CXXC5_ENST00000515038.1_3'UTR NM_016463.7 NP_057547.5 Q7LFL8 CXXC5_HUMAN CXXC finger protein 5 275 positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|nucleus DNA binding|signal transducer activity|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCATCAACTGCGAGCAGTGCA 0.567000 3 109 1 1 1 1 0 RP11-423O2.5 0 broad.mit.edu 37 1 142810433 142810433 + RNA DEL C C - TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr1:142810433delC ENST00000423385.1 - 0 88 actttgggagcccaaggtggg 0.473 8 49 --- --- --- --- BZW1 9689 broad.mit.edu 37 2 201684782 201684782 + Frame_Shift_Del DEL T T - TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr2:201684782delT ENST00000409600.1 + 10 1499 c.1044delT c.(1042-1044)tafs p.Y348fs BZW1_ENST00000409226.1_Frame_Shift_Del_p.Y352fs|BZW1_ENST00000452790.2_Frame_Shift_Del_p.Y380fs NM_001207067.1|NM_014670.3 NP_001193996.1|NP_055485.2 Q7L1Q6 BZW1_HUMAN basic leucine zipper and W2 domains 1 348 W2. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm protein binding breast(1)|kidney(2)|large_intestine(1)|lung(2) 6 TTCAGGAGTATTGCTATGACA 0.338 2 4 --- --- --- --- CUBN 8029 broad.mit.edu 37 10 16955876 16955876 + Frame_Shift_Del DEL C C - TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr10:16955876delC ENST00000377833.4 - 48 7532 c.7467delG c.(7465-7467)cgfs p.R2489fs NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 2489 CUB 18. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TTAGGGTGATCCGCCTTCCCT 0.517 41 246 --- --- --- --- PNLIPRP2 5408 broad.mit.edu 37 10 118396278 118396279 + RNA INS - - T rs11197776 by1000genomes TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr10:118396278_118396279insT ENST00000537242.1 + 0 962 PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA NM_005396.4 NP_005387.2 P54317 LIPR2_HUMAN pancreatic lipase-related protein 2 galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process extracellular space acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity endometrium(1)|large_intestine(1)|lung(11)|prostate(3) 16 all cancers(201;0.015) ACAAATTATGGTTTTTTTTTTC 0.426 5 5 --- --- --- --- RP11-812E19.9 0 broad.mit.edu 37 16 33647495 33647495 + Frame_Shift_Del DEL C C - TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr16:33647495delC ENST00000558425.1 - 2 104 c.105delG c.(103-105)ggfs p.G35fs GTCTCAGGGACCCCCCAGGCT 0.567 8 112 --- --- --- --- KCTD19 146212 broad.mit.edu 37 16 67337079 67337089 + Frame_Shift_Del DEL CGATGAGGGCC CGATGAGGGCC - TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr16:67337079_67337089delCGATGAGGGCC ENST00000304372.5 - 4 658_668 c.603_613delGGCCCTCATCG c.(601-615)gtagfs p.VALIE201fs KCTD19_ENST00000562860.1_5'UTR NM_001100915.1 NP_001094385.1 Q17RG1 KCD19_HUMAN potassium channel tetramerization domain containing 19 201 voltage-gated potassium channel complex voltage-gated potassium channel activity p.A202T(1) endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3) 23 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906) CACTCGCACTCGATGAGGGCCACCGTCTCAG 0.607 8 56 --- --- --- --- RP5-963E22.4 0 broad.mit.edu 37 20 61798838 61798838 + RNA DEL T T - TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr20:61798838delT ENST00000423020.1 - 0 188 ctcagccccctcctcagcccc 0.687 2 4 --- --- --- ---