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 IQGAP1 8826 broad.mit.edu 37 15 91030268 91030268 + Silent SNP C C T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr15:91030268C>T ENST00000268182.5 + 32 4231 c.4107C>T c.(4105-4107)ttC>ttT p.F1369F IQGAP1_ENST00000560738.1_Silent_p.F797F NM_003870.3 NP_003861.1 P46940 IQGA1_HUMAN IQ motif containing GTPase activating protein 1 1369 C2. energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction actin filament|cytoplasm|midbody|nucleus|plasma membrane calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488) BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) CCAACAAGTTCGACGTGCCTG 0.443000 15 76 0 0 1 0 0 BTN2A3P 54718 broad.mit.edu 37 6 26422353 26422353 + RNA SNP C C T rs141013110 TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr6:26422353C>T ENST00000466808.2 + 0 7 p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 4 86 0 0 1 0 0 FAM118A 55007 broad.mit.edu 37 22 45728404 45728404 + Silent SNP C C T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr22:45728404C>T ENST00000216214.3 + 7 1584 c.750C>T c.(748-750)tcC>tcT p.S250S FAM118A_ENST00000441876.2_Silent_p.S250S|FAM118A_ENST00000405548.3_Silent_p.S68S NM_001104595.1 NP_001098065.1 Q9NWS6 F118A_HUMAN family with sequence similarity 118, member A 250 integral to membrane endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1) 11 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178) TTCTTTACTCCGTGCCGAATA 0.478000 26 121 0 0 1 0 0 PNMAL1 55228 broad.mit.edu 37 19 46973192 46973192 + Silent SNP C C T rs149866283 byFrequency TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr19:46973192C>T ENST00000313683.10 - 2 1406 c.1101G>A c.(1099-1101)gtG>gtA p.V367V PNMAL1_ENST00000602246.1_Intron|PNMAL1_ENST00000438932.2_Intron NM_001103149.1|NM_018215.3 NP_001096619.1|NP_060685.2 Q86V59 PNML1_HUMAN paraneoplastic Ma antigen family-like 1 367 cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Ovarian(192;0.00965)|all_neural(266;0.0459) OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427) GGCCCAAGCTCACCTTCTTCT 0.562000 33 195 0 0 1 0 0 EFCAB7 84455 broad.mit.edu 37 1 64017452 64017452 + Missense_Mutation SNP G G A TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr1:64017452G>A ENST00000371088.4 + 8 1249 c.1003G>A c.(1003-1005)Gag>Aag p.E335K NM_032437.2 NP_115813.2 A8K855 EFCB7_HUMAN EF-hand calcium binding domain 7 335 calcium ion binding breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 19 CAAGGAAAATGAGAGTCAAGC 0.308000 5 32 0 0 1 0 0 MDP1 145553 broad.mit.edu 37 14 24683559 24683559 + Missense_Mutation SNP G G C TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr14:24683559G>C ENST00000288087.7 - 5 471 c.360C>G c.(358-360)ttC>ttG p.F120L MDP1_ENST00000532557.1_Intron|NEDD8-MDP1_ENST00000534348.1_Missense_Mutation_p.F137L|AL136419.6_ENST00000565988.1_RNA|MDP1_ENST00000396833.2_Intron NM_001199822.1|NM_138476.3 NP_001186751.1|NP_612485.2 magnesium-dependent phosphatase 1 p.F120L(1) breast(2)|large_intestine(2)|lung(3) 7 CATCATCAAAGAAGATCATCT 0.478000 10 107 0 0 1 0 0 S100A13 6284 broad.mit.edu 37 1 153598850 153598850 + Silent SNP G G A TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr1:153598850G>A ENST00000368699.1 - 4 602 c.99C>T c.(97-99)ctC>ctT p.L33L S100A13_ENST00000440685.2_Silent_p.L33L|S100A13_ENST00000392623.1_Silent_p.L33L|S100A13_ENST00000392622.1_Silent_p.L33L|RP1-178F15.5_ENST00000497086.1_RNA|S100A13_ENST00000491177.1_5'UTR|S100A13_ENST00000339556.4_Silent_p.L33L NM_001024210.1 NP_001019381.1 Q99584 S10AD_HUMAN S100 calcium binding protein A13 33 EF-hand 1. interleukin-1 alpha secretion|mast cell degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade cytosol|extracellular space|nucleus|perinuclear region of cytoplasm calcium ion binding|copper ion binding|fibroblast growth factor 1 binding|lipid binding|protein homodimerization activity|RAGE receptor binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(1)|lung(4) 7 all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) Amlexanox(DB01025) CGTTGACGCTGAGGCTATCCT 0.522000 33 184 0 0 1 0 0 DSPP 1834 broad.mit.edu 37 4 88534236 88534236 + Missense_Mutation SNP G G A TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr4:88534236G>A ENST00000399271.1 + 4 1018 c.898G>A c.(898-900)Gat>Aat p.D300N DSPP_ENST00000282478.7_Missense_Mutation_p.D300N|RP11-742B18.1_ENST00000506480.1_RNA NM_014208.3 NP_055023.2 Q9NZW4 DSPP_HUMAN dentin sialophosphoprotein 300 biomineral tissue development|ossification|skeletal system development proteinaceous extracellular matrix calcium ion binding|collagen binding|extracellular matrix structural constituent breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Hepatocellular(203;0.114)|all_hematologic(202;0.236) OV - Ovarian serous cystadenocarcinoma(123;0.000508) TCAAAATTCAGATAGTAAAGA 0.433000 7 46 0 0 1 0 0 MFAP1 4236 broad.mit.edu 37 15 44107241 44107241 + Missense_Mutation SNP C C T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr15:44107241C>T ENST00000267812.3 - 3 563 c.331G>A c.(331-333)Gaa>Aaa p.E111K NM_005926.2 NP_005917.2 P55081 MFAP1_HUMAN microfibrillar-associated protein 1 111 microfibril breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3) 15 all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;4.33e-07) CCTACCACTTCAGGTTCCACT 0.423000 20 99 0 0 1 0 0 ACSL5 51703 broad.mit.edu 37 10 114177678 114177678 + Silent SNP C C T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr10:114177678C>T ENST00000393081.1 + 14 1600 c.1293C>T c.(1291-1293)ttC>ttT p.F431F ACSL5_ENST00000354273.4_Silent_p.F431F|ACSL5_ENST00000354655.4_Silent_p.F431F|ACSL5_ENST00000356116.1_Silent_p.F487F|ACSL5_ENST00000433418.1_Silent_p.F431F|RP11-324O2.6_ENST00000424422.1_RNA|ACSL5_ENST00000369410.3_Silent_p.F213F NM_203380.1 NP_976314.1 Q9ULC5 ACSL5_HUMAN acyl-CoA synthetase long-chain family member 5 431 fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane ATP binding|long-chain fatty acid-CoA ligase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1) 21 Colorectal(252;0.117)|Breast(234;0.222) Epithelial(162;0.0343)|all cancers(201;0.137) TGACATTCTTCCGGGCAGCAA 0.453000 9 63 0 0 1 0 0 SLC7A1 6541 broad.mit.edu 37 13 30110249 30110249 + Missense_Mutation SNP G G A TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr13:30110249G>A ENST00000380752.5 - 3 463 c.77C>T c.(76-78)aCg>aTg p.T26M NM_003045.4 NP_003036.1 P30825 CTR1_HUMAN solute carrier family 7 (cationic amino acid transporter, y+ system), member 1 26 cellular nitrogen compound metabolic process|ion transport integral to plasma membrane receptor activity endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2) 24 Lung SC(185;0.0257)|Breast(139;0.238) all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) AGACAGCCGCGTCTCCTCCCG 0.607000 7 54 0 0 1 0 0 TAF1B 9014 broad.mit.edu 37 2 10059238 10059238 + Missense_Mutation SNP G G C TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr2:10059238G>C ENST00000263663.5 + 13 1528 c.1340G>C c.(1339-1341)aGa>aCa p.R447T TAF1B_ENST00000396242.3_Missense_Mutation_p.R192T NM_005680.2 NP_005671.2 Q53T94 TAF1B_HUMAN TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa 447 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 14 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) TATAAAAAAAGAGGTAAGTCA 0.338000 6 46 0 0 1 0 0 IBTK 25998 broad.mit.edu 37 6 82900848 82900848 + Missense_Mutation SNP T T A TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr6:82900848T>A ENST00000306270.7 - 25 4066 c.3517A>T c.(3517-3519)Aat>Tat p.N1173Y IBTK_ENST00000503631.1_Missense_Mutation_p.N972Y|IBTK_ENST00000510291.1_Missense_Mutation_p.N1158Y NM_015525.2 NP_056340.2 Q9P2D0 IBTK_HUMAN inhibitor of Bruton agammaglobulinemia tyrosine kinase 1173 negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol cytoplasm|membrane|nucleus protein kinase binding|protein tyrosine kinase inhibitor activity central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 54 all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037) BRCA - Breast invasive adenocarcinoma(397;0.0901) TCCATGCTATTCATTCCTGAA 0.328000 4 27 0 0 1 0 0 HINFP 25988 broad.mit.edu 37 11 119003681 119003681 + Missense_Mutation SNP C C T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr11:119003681C>T ENST00000350777.2 + 8 1046 c.983C>T c.(982-984)tCt>tTt p.S328F HINFP_ENST00000527410.1_Missense_Mutation_p.S328F NM_001243259.1|NM_015517.4|NM_198971.2 NP_001230188.1|NP_056332.2|NP_945322.1 Q9BQA5 HINFP_HUMAN histone H4 transcription factor 328 DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle Cajal body enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 TCCCTCTGCTCTATCAAGTCC 0.532000 31 108 0 0 1 0 0 FEZF1 389549 broad.mit.edu 37 7 121943740 121943740 + Missense_Mutation SNP C C T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr7:121943740C>T ENST00000442488.2 - 1 819 c.752G>A c.(751-753)gGc>gAc p.G251D FEZF1_ENST00000427185.2_Missense_Mutation_p.G201D|FEZF1_ENST00000331178.4_Missense_Mutation_p.G251D|FEZF1-AS1_ENST00000428449.1_RNA NM_001024613.2|NM_001160264.1 NP_001019784.2|NP_001153736.1 A0PJY2 FEZF1_HUMAN FEZ family zinc finger 1 251 cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1) 25 ATTAGGAGAGCCTCGGCTGAA 0.493000 11 100 0 0 1 0 0 LAMC1 3915 broad.mit.edu 37 1 182992966 182992966 + Nonsense_Mutation SNP G G T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr1:182992966G>T ENST00000258341.4 + 1 372 c.115G>T c.(115-117)Gag>Tag p.E39* NM_002293.3 NP_002284.3 P11047 LAMC1_HUMAN laminin, gamma 1 (formerly LAMB2) 39 axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 76 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AGCCATGGACGAGTGCACGGA 0.766000 6 17 1.12685e-05 1.2197e-05 1 1 0 ASCC3 10973 broad.mit.edu 37 6 101100668 101100668 + Missense_Mutation SNP C C G TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr6:101100668C>G ENST00000369162.2 - 18 3265 c.2921G>C c.(2920-2922)gGa>gCa p.G974A NM_006828.2 NP_006819.2 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 3 974 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 92 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) GGAAAAATATCCAGTTCGCTC 0.358000 10 50 0 0 1 0 0 MMAA 166785 broad.mit.edu 37 4 146563519 146563519 + Missense_Mutation SNP G G T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr4:146563519G>T ENST00000281317.5 + 3 1654 c.444G>T c.(442-444)ttG>ttT p.L148F RP11-557J10.4_ENST00000504555.1_RNA|MMAA_ENST00000541599.1_5'UTR NM_172250.2 NP_758454.1 Q8IVH4 MMAA_HUMAN methylmalonic aciduria (cobalamin deficiency) cblA type 148 mitochondrion GTP binding|nucleoside-triphosphatase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1) 17 all_hematologic(180;0.151) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CCGTAGGATTGTCTGGGCCCC 0.378000 15 84 0.0242445 0.0244988 1 1 0 PCDHB15 56121 broad.mit.edu 37 5 140626943 140626943 + Silent SNP C C T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr5:140626943C>T ENST00000231173.3 + 1 1797 c.1797C>T c.(1795-1797)aaC>aaT p.N599N NM_018935.2 NP_061758.1 Q9Y5E8 PCDBF_HUMAN 599 Cadherin 6. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 61 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGGGCCAGAACGCCTGGCTGT 0.726000 6 85 0 0 1 0 0 STAC 6769 broad.mit.edu 37 3 36587704 36587704 + Nonsense_Mutation SNP G G T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr3:36587704G>T ENST00000273183.3 + 11 1432 c.1132G>T c.(1132-1134)Gaa>Taa p.E378* STAC_ENST00000457375.2_Nonsense_Mutation_p.E317* NM_003149.1 NP_003140.1 Q99469 STAC_HUMAN SH3 and cysteine rich domain 378 intracellular signal transduction cytoplasm|soluble fraction metal ion binding endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5) 32 TTCTGAAGAAGAACAAGATGG 0.428000 16 79 1.45105e-14 1.68415e-14 1 1 0 ATP13A4 84239 broad.mit.edu 37 3 193185105 193185105 + Splice_Site SNP C C A TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr3:193185105C>A ENST00000342695.4 - 10 1436 c.1114_splice c.e10+1 p.G372_splice ATP13A4_ENST00000295548.3_Splice_Site_p.G372_splice|ATP13A4_ENST00000392443.3_Splice_Site_p.G372_splice NM_032279.2 NP_115655.2 Q4VNC1 AT134_HUMAN ATPase type 13A4 372 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) GGATGCTAACCAGTCTGCAGT 0.443000 6 49 0.00116845 0.00119745 1 1 0 EEF2 1938 broad.mit.edu 37 19 3983263 3983263 + Missense_Mutation SNP G G A TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr19:3983263G>A ENST00000309311.6 - 3 333 c.245C>T c.(244-246)tCg>tTg p.S82L EEF2_ENST00000600720.1_5'UTR NM_001961.3 NP_001952.1 P13639 EF2_HUMAN eukaryotic translation elongation factor 2 82 cytosol|ribonucleoprotein complex GTP binding|GTPase activity|protein binding|translation elongation factor activity endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18) GTCATTCTCCGAGAGCTCGTA 0.587000 4 18 0 0 1 0 0 ARFGAP3 26286 broad.mit.edu 37 22 43195057 43195057 + Silent SNP C C T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr22:43195057C>T ENST00000263245.5 - 15 1740 c.1521G>A c.(1519-1521)gtG>gtA p.V507V ARFGAP3_ENST00000429508.2_Silent_p.V435V|ARFGAP3_ENST00000437119.2_Silent_p.V463V NM_001142293.1|NM_014570.4 NP_001135765.1|NP_055385.3 Q9NP61 ARFG3_HUMAN ADP-ribosylation factor GTPase activating protein 3 507 intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport cytosol|Golgi membrane ARF GTPase activator activity|protein transporter activity|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1) 11 GAATTGAAGTCACGACTCCAT 0.527000 32 199 0 0 1 0 0 KIF22 3835 broad.mit.edu 37 16 29816601 29816601 + Silent SNP C C G TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr16:29816601C>G ENST00000561482.1 + 14 2401 c.1764C>G c.(1762-1764)ctC>ctG p.L588L KIF22_ENST00000569382.2_Silent_p.L602L|KIF22_ENST00000160827.4_Silent_p.L656L|KIF22_ENST00000400751.5_Silent_p.L588L NM_001256270.1 NP_001243199.1 Q14807 KIF22_HUMAN kinesin family member 22 656 blood coagulation|DNA repair|microtubule-based movement|mitosis cytosol|kinetochore|microtubule|nucleus ATP binding|DNA binding|microtubule motor activity|protein binding endometrium(1)|large_intestine(1)|lung(11)|skin(1) 14 TCCTGGGTCTCGCCGCCGGCC 0.607000 33 191 0 0 1 0 0 HRAS 3265 broad.mit.edu 37 11 534285 534285 + Missense_Mutation SNP C C A rs104894226 TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr11:534285C>A ENST00000417302.1 - 2 225 c.38G>T c.(37-39)gGt>gTt p.G13V HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.G13V|HRAS_ENST00000397596.2_Missense_Mutation_p.G13V|HRAS_ENST00000451590.1_Missense_Mutation_p.G13V|HRAS_ENST00000311189.7_Missense_Mutation_p.G13V NM_176795.3 NP_789765.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 13 G -> C (in FCSS).|G -> D (in FCSS). activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.G13V(14)|p.G13D(10)|p.G12_G13insAG(1) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) CTTGCCCACACCGCCGGCGCC 0.642000 6 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) 7 46 5.18039e-06 5.64956e-06 1 1 0 SMC2 10592 broad.mit.edu 37 9 106864294 106864294 + Missense_Mutation SNP G G T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr9:106864294G>T ENST00000286398.7 + 8 978 c.690G>T c.(688-690)ttG>ttT p.L230F SMC2_ENST00000374793.3_Missense_Mutation_p.L230F|SMC2_ENST00000374787.3_Missense_Mutation_p.L230F|SMC2_ENST00000303219.8_Missense_Mutation_p.L230F NM_001042551.1|NM_001265602.1|NM_006444.2 NP_001036016.1|NP_001252531.1|NP_006435.2 O95347 SMC2_HUMAN structural maintenance of chromosomes 2 230 cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism condensin complex|cytoplasm|nuclear chromosome ATP binding|protein heterodimerization activity breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 48 TAGAACATTTGAGTCGTTTAT 0.313000 10 73 3.86212e-05 4.08847e-05 1 1 0 RPA1 6117 broad.mit.edu 37 17 1782580 1782580 + Silent SNP G G A TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr17:1782580G>A ENST00000254719.5 + 10 941 c.831G>A c.(829-831)gaG>gaA p.E277E RPA1_ENST00000573924.1_3'UTR NM_002945.3 NP_002936.1 P27694 RFA1_HUMAN replication protein A1, 70kDa 277 cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body metal ion binding|protein binding|single-stranded DNA binding breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2) 10 ATGACTACGAGATGACCTTCA 0.468000 Nucleotide excision repair (NER) 7 64 0 0 1 0 0 GABRA5 2558 broad.mit.edu 37 15 27185171 27185171 + Nonsense_Mutation SNP C C G TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr15:27185171C>G ENST00000335625.5 + 9 1712 c.824C>G c.(823-825)tCa>tGa p.S275* GABRA5_ENST00000400081.3_Nonsense_Mutation_p.S275*|GABRA5_ENST00000355395.5_Nonsense_Mutation_p.S275* NM_000810.3 NP_000801.1 P31644 GBRA5_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 5 275 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1) 49 all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227) all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GTGATCTTATCACAGGTGTCC 0.502000 8 26 0 0 1 0 0 OR14I1 401994 broad.mit.edu 37 1 248844948 248844948 + Missense_Mutation SNP A A G TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr1:248844948A>G ENST00000342623.3 - 1 681 c.658T>C c.(658-660)Ttc>Ctc p.F220L NM_001004734.1 NP_001004734.1 A6ND48 O14I1_HUMAN olfactory receptor, family 14, subfamily I, member 1 220 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 35 ACCGTTGAGAAGATTTGGAAA 0.478000 9 85 0 0 1 0 0 NOL10 79954 broad.mit.edu 37 2 10712233 10712233 + Silent SNP C C T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr2:10712233C>T ENST00000345985.3 - 20 1991 c.1881G>A c.(1879-1881)ctG>ctA p.L627L NOL10_ENST00000381685.5_Silent_p.L677L|NOL10_ENST00000542668.1_Silent_p.L627L|NOL10_ENST00000538384.1_Silent_p.L651L NM_001261394.1 NP_001248323.1 Q9BSC4 NOL10_HUMAN nucleolar protein 10 677 nucleolus Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207) GTCTTGACTTCAGGTGTCCGG 0.478000 24 152 0 0 1 0 0 SCN1A 6323 broad.mit.edu 37 2 166852540 166852540 + Missense_Mutation SNP G G C TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr2:166852540G>C ENST00000423058.2 - 24 4581 c.4564C>G c.(4564-4566)Cct>Gct p.P1522A AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.P1494A|SCN1A_ENST00000375405.3_Missense_Mutation_p.P1511A|SCN1A_ENST00000303395.4_Missense_Mutation_p.P1522A NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 1522 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) CGAGGTATAGGCTTTTGCGGT 0.333000 7 58 0 0 1 0 0 HTR6 3362 broad.mit.edu 37 1 19992872 19992872 + Missense_Mutation SNP G G T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr1:19992872G>T ENST00000289753.1 + 1 1093 c.626G>T c.(625-627)tGc>tTc p.C209F NM_000871.1 NP_000862.1 P50406 5HT6R_HUMAN 5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled 209 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane histamine receptor activity|protein binding endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 13 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144) TTCACCTACTGCAGGATCCTG 0.667000 9 55 9.70103e-10 1.08247e-09 1 1 0 FREM2 341640 broad.mit.edu 37 13 39262646 39262646 + Missense_Mutation SNP C C T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr13:39262646C>T ENST00000280481.7 + 1 1381 c.1165C>T c.(1165-1167)Cgg>Tgg p.R389W NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 389 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) GAGGGATCTGCGGCTCCTGAA 0.552000 12 71 0 0 1 0 0 NOTCH3 4854 broad.mit.edu 37 19 15302416 15302416 + Nonsense_Mutation SNP G G T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr19:15302416G>T ENST00000263388.2 - 6 930 c.855C>A c.(853-855)tgC>tgA p.C285* NM_000435.2 NP_000426.2 Q9UM47 NOTC3_HUMAN notch 3 285 EGF-like 7. Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 93 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) CCCCATTGTGGCAGGCGTTGG 0.607000 3 31 0.004672 0.00475425 1 1 0 CTNNA2 1496 broad.mit.edu 37 2 80816547 80816547 + Missense_Mutation SNP A A G TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr2:80816547A>G ENST00000466387.1 + 19 2850 c.2126A>G c.(2125-2127)aAt>aGt p.N709S CTNNA2_ENST00000540488.1_Missense_Mutation_p.N709S|CTNNA2_ENST00000361291.4_Missense_Mutation_p.N743S|CTNNA2_ENST00000541047.1_Missense_Mutation_p.N709S|AC008067.2_ENST00000596887.1_RNA|CTNNA2_ENST00000343114.3_Missense_Mutation_p.N388S|CTNNA2_ENST00000496558.1_Missense_Mutation_p.N709S|AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000402739.4_Missense_Mutation_p.N709S|AC008067.2_ENST00000595478.1_RNA P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 709 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 GACAGCGGCAATGATATCATT 0.478000 12 75 0 0 1 0 0 BRD1 23774 broad.mit.edu 37 22 50191666 50191666 + Nonsense_Mutation SNP C C A TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr22:50191666C>A ENST00000216267.8 - 5 2371 c.1885G>T c.(1885-1887)Gag>Tag p.E629* BRD1_ENST00000542442.1_Nonsense_Mutation_p.E317*|BRD1_ENST00000404034.1_Nonsense_Mutation_p.E629*|BRD1_ENST00000342989.5_Nonsense_Mutation_p.E224*|BRD1_ENST00000404760.1_Nonsense_Mutation_p.E629*|BRD1_ENST00000457780.2_Nonsense_Mutation_p.E629* NM_014577.1 NP_055392.1 O95696 BRD1_HUMAN bromodomain containing 1 629 Bromo. histone H3 acetylation MOZ/MORF histone acetyltransferase complex zinc ion binding endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 37 all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21) TCAAAATCCTCCTCAAACTCA 0.453000 16 81 6.31663e-08 7.02117e-08 1 1 0 COL17A1 1308 broad.mit.edu 37 10 105799374 105799374 + Nonsense_Mutation SNP G G C TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr10:105799374G>C ENST00000353479.5 - 42 3103 c.2813C>G c.(2812-2814)tCa>tGa p.S938* COL17A1_ENST00000369733.3_Intron NM_000494.3 NP_000485.3 Q9UMD9 COHA1_HUMAN collagen, type XVII, alpha 1 938 Triple-helical region. cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 62 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) ACCTGAGGTTGAGAAACCTGG 0.592000 17 50 0 0 1 0 0 SEC14L5 9717 broad.mit.edu 37 16 5053443 5053443 + Missense_Mutation SNP C C T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr16:5053443C>T ENST00000251170.7 + 11 1351 c.1171C>T c.(1171-1173)Cgg>Tgg p.R391W NM_014692.1 NP_055507.1 O43304 S14L5_HUMAN SEC14-like 5 (S. cerevisiae) 391 CRAL-TRIO. integral to membrane|intracellular transporter activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1) 29 ACTCAACATGCGGCACCTGTG 0.637000 7 47 0 0 1 0 0 ARID3B 10620 broad.mit.edu 37 15 74836400 74836400 + Silent SNP G G A TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr15:74836400G>A ENST00000346246.5 + 2 354 c.123G>A c.(121-123)ttG>ttA p.L41L NM_006465.2 NP_006456.1 Q8IVW6 ARI3B_HUMAN AT rich interactive domain 3B (BRIGHT-like) 41 Gln-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2) 14 CCCAGTTCTTGTATGCCCAAA 0.577000 10 36 0 0 1 0 0 NPAS3 64067 broad.mit.edu 37 14 34269118 34269118 + Silent SNP G G A TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr14:34269118G>A ENST00000346562.2 + 11 1583 c.1509G>A c.(1507-1509)tcG>tcA p.S503S NPAS3_ENST00000356141.4_Silent_p.S535S|NPAS3_ENST00000551492.1_Silent_p.S540S|NPAS3_ENST00000357798.5_Silent_p.S522S|NPAS3_ENST00000548645.1_Silent_p.S505S NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2 NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1 Q8IXF0 NPAS3_HUMAN neuronal PAS domain protein 3 535 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 40 Breast(36;0.0102)|Hepatocellular(127;0.133) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968) GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115) TCGAGCACTCGGACTTTGAGA 0.642000 9 34 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367767 145367767 + Missense_Mutation SNP G G A rs77484671 TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr1:145367767G>A ENST00000342960.5 + 83 10398 c.10363G>A c.(10363-10365)Gaa>Aaa p.E3455K NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3455 p.E3455K(5) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) atcaaagaaggaaagaagaag 0.423000 4 51 0 0 1 0 0 TREML1 340205 broad.mit.edu 37 6 41121819 41121819 + Missense_Mutation SNP A A G TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr6:41121819A>G ENST00000373127.4 - 2 101 c.53T>C c.(52-54)aTa>aCa p.I18T TREML1_ENST00000426005.2_Missense_Mutation_p.I18T|TREML1_ENST00000437044.2_Intron NM_001271807.1 NP_001258736.1 Q86YW5 TRML1_HUMAN triggering receptor expressed on myeloid cells-like 1 18 Ig-like V-type. calcium-mediated signaling|innate immune response|platelet activation cell surface|integral to membrane|plasma membrane|platelet alpha granule protein binding|receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1) 13 Ovarian(28;0.0418)|Colorectal(47;0.196) GCTGCCAACTATGCCCTGACC 0.582000 7 50 0 0 1 0 0 NUTM1 256646 broad.mit.edu 37 15 34648868 34648868 + Missense_Mutation SNP C C T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr15:34648868C>T ENST00000537011.1 + 8 3041 c.2659C>T c.(2659-2661)Cca>Tca p.P887S NUTM1_ENST00000438749.3_Missense_Mutation_p.P877S|NUTM1_ENST00000333756.4_Missense_Mutation_p.P859S NUT midline carcinoma, family member 1 AGAAACCCTTCCACCCACATG 0.532000 7 50 0 0 1 0 0 TMEM40 55287 broad.mit.edu 37 3 12779245 12779245 + Missense_Mutation SNP C C T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr3:12779245C>T ENST00000314124.7 - 8 789 c.433G>A c.(433-435)Gag>Aag p.E145K TMEM40_ENST00000476331.1_5'UTR|TMEM40_ENST00000435218.2_Missense_Mutation_p.E115K|TMEM40_ENST00000435575.1_Missense_Mutation_p.E69K|TMEM40_ENST00000264728.8_Missense_Mutation_p.E145K|TMEM40_ENST00000431022.2_Missense_Mutation_p.E161K NM_018306.2 NP_060776.2 Q8WWA1 TMM40_HUMAN transmembrane protein 40 145 integral to membrane breast(1)|large_intestine(3)|lung(5)|urinary_tract(1) 10 TGAGAGGCCTCCACTTCTCCT 0.413000 5 68 0 0 1 0 0 BCLAF1 9774 broad.mit.edu 37 6 136597547 136597547 + Silent SNP C C T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr6:136597547C>T ENST00000531224.1 - 5 1368 c.1116G>A c.(1114-1116)gaG>gaA p.E372E BCLAF1_ENST00000353331.4_Silent_p.E370E|BCLAF1_ENST00000527759.1_Silent_p.E370E|BCLAF1_ENST00000527536.1_Silent_p.E372E|BCLAF1_ENST00000392348.2_Silent_p.E370E|BCLAF1_ENST00000530767.1_Intron NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 372 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) CCCATTCTCCCTCTGCCCTCC 0.433000 29 419 0 0 1 0 0 FZD2 2535 broad.mit.edu 37 17 42636594 42636594 + Missense_Mutation SNP G G A TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr17:42636594G>A ENST00000315323.3 + 1 1670 c.1538G>A c.(1537-1539)cGc>cAc p.R513H NM_001466.3 NP_001457.1 Q14332 FZD2_HUMAN frizzled family receptor 2 513 axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8) 33 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.189) TACACGCCGCGCATGTCGCCC 0.627000 3 34 0 0 1 0 0 CREBBP 1387 broad.mit.edu 37 16 3819189 3819189 + Nonsense_Mutation SNP C C A TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr16:3819189C>A ENST00000262367.5 - 15 3855 c.3046G>T c.(3046-3048)Gag>Tag p.E1016* CREBBP_ENST00000382070.3_Nonsense_Mutation_p.E978* NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 1016 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) GACCTGGGCTCCCCTTTGGAT 0.592000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 16 70 1.56452e-12 1.78011e-12 1 1 0 RRN3P2 653390 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 4 51 0 0 1 0 0 FFAR4 338557 broad.mit.edu 37 10 95347156 95347156 + Silent SNP C C T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr10:95347156C>T ENST00000371483.4 + 4 980 c.924C>T c.(922-924)ttC>ttT p.F308F FFAR4_ENST00000604414.1_Intron|FFAR4_ENST00000371481.4_Silent_p.F292F NM_181745.3 NP_859529.2 free fatty acid receptor 4 TCCAGAACTTCAAGCAAGACC 0.522000 38 191 0 0 1 0 0 CDH13 1012 broad.mit.edu 37 16 83520131 83520131 + Silent SNP C C T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr16:83520131C>T ENST00000566620.1 + 7 1121 c.831C>T c.(829-831)acC>acT p.T277T CDH13_ENST00000268613.10_Silent_p.T324T|CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000428848.3_Silent_p.T238T NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4 NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1 P55290 CAD13_HUMAN cadherin 13 277 Cadherin 2. adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding large_intestine(1) 1 all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09) COAD - Colon adenocarcinoma(5;0.0268) ACCCAGCCACCGATAATGCCC 0.517000 10 60 0 0 1 0 0 ZNF700 90592 broad.mit.edu 37 19 12059116 12059116 + Missense_Mutation SNP G G A TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr19:12059116G>A ENST00000482090.1 + 3 641 c.223G>A c.(223-225)Gaa>Aaa p.E75K ZNF700_ENST00000254321.5_Missense_Mutation_p.E93K|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000590798.1_Intron|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000591944.1_Intron Q9H0M5 ZN700_HUMAN zinc finger protein 700 93 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ZNF700/MAST1_ENST00000251472(2) breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1) 33 GAAAGTCAATGAAATTAAAGA 0.358000 19 128 0 0 1 0 0 PRKAG3 53632 broad.mit.edu 37 2 219694951 219694951 + Missense_Mutation SNP G G C TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr2:219694951G>C ENST00000439262.2 - 4 403 c.308C>G c.(307-309)tCc>tGc p.S103C PRKAG3_ENST00000529249.1_Missense_Mutation_p.S128C|PRKAG3_ENST00000545803.1_5'UTR|PRKAG3_ENST00000392098.3_Missense_Mutation_p.S128C NM_017431.2 NP_059127.2 Q9UGI9 AAKG3_HUMAN protein kinase, AMP-activated, gamma 3 non-catalytic subunit 128 cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation cytosol AMP-activated protein kinase activity|protein kinase binding large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 20 Renal(207;0.0474) Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ATCTGTGCTGGAGCCTGCAGC 0.632000 3 19 0 0 1 0 0 RXFP1 59350 broad.mit.edu 37 4 159568024 159568024 + Missense_Mutation SNP C C A TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr4:159568024C>A ENST00000307765.5 + 16 1678 c.1427C>A c.(1426-1428)gCg>gAg p.A476E RXFP1_ENST00000470033.1_Missense_Mutation_p.A443E|RXFP1_ENST00000343542.5_Missense_Mutation_p.A428E|RXFP1_ENST00000448688.2_Missense_Mutation_p.A371E|RXFP1_ENST00000460056.2_Missense_Mutation_p.A395E NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3 NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2 Q9HBX9 RXFP1_HUMAN relaxin/insulin-like family peptide receptor 1 476 integral to membrane|plasma membrane G-protein coupled receptor activity|metal ion binding p.A476V(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10) 49 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0219) AATAAGCATGCGCAGCTGTGG 0.418000 12 93 4.36969e-10 4.89473e-10 1 1 0 NOTCH1 4851 broad.mit.edu 37 9 139412278 139412278 + Missense_Mutation SNP C C T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr9:139412278C>T ENST00000277541.6 - 8 1442 c.1367G>A c.(1366-1368)tGc>tAc p.C456Y NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 456 EGF-like 12; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GTTCGAGACGCACTCGTTGAC 0.662000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 9 58 0 0 1 0 0 TOX3 27324 broad.mit.edu 37 16 52480095 52480095 + Missense_Mutation SNP C C A TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr16:52480095C>A ENST00000219746.9 - 5 1001 c.717G>T c.(715-717)aaG>aaT p.K239N TOX3_ENST00000407228.3_Missense_Mutation_p.K234N NM_001080430.2 NP_001073899.2 O15405 TOX3_HUMAN TOX high mobility group box family member 3 239 apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1) 24 TCTTGGGCTTCTTGCCAGAGT 0.453000 6 47 3.59834e-05 3.82323e-05 1 1 0 PCDH17 27253 broad.mit.edu 37 13 58298781 58298781 + Nonsense_Mutation SNP C C T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr13:58298781C>T ENST00000377918.3 + 4 2859 c.2833C>T c.(2833-2835)Cga>Tga p.R945* NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 945 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) AGATGAATGCCGAGTGCTTGG 0.423000 11 45 0 0 1 0 0 ZNF99 7652 broad.mit.edu 37 19 22941702 22941702 + Nonsense_Mutation SNP C C A TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr19:22941702C>A ENST00000397104.3 - 5 735 c.736G>T c.(736-738)Gga>Tga p.G246* ZNF99_ENST00000596209.1_Nonsense_Mutation_p.G337* zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) GGTTTCTTTCCAGTATGAATT 0.373000 4 54 1.23904e-05 1.33116e-05 1 1 0 NKRF 55922 broad.mit.edu 37 X 118724262 118724262 + Missense_Mutation SNP A A C TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chrX:118724262A>C ENST00000371527.1 - 2 1778 c.1126T>G c.(1126-1128)Tgg>Ggg p.W376G NKRF_ENST00000542113.1_Missense_Mutation_p.W391G|NKRF_ENST00000487600.1_Intron|NKRF_ENST00000304449.5_Missense_Mutation_p.W376G NM_001173488.1 NP_001166959.1 O15226 NKRF_HUMAN NFKB repressing factor 376 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|double-stranded RNA binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1) 30 CGACAACGCCATGTGCGATTT 0.383000 27 63 0 0 1 0 0 MYH3 4621 broad.mit.edu 37 17 10543998 10543998 + Missense_Mutation SNP C C T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr17:10543998C>T ENST00000583535.1 - 20 2258 c.2171G>A c.(2170-2172)cGa>cAa p.R724Q MYH3_ENST00000226209.7_Missense_Mutation_p.R724Q NM_002470.3 NP_002461.2 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, embryonic 724 Myosin head-like. muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 attcagcactcggtatctgca 0.458000 11 47 0 0 1 0 0 PCOLCE 5118 broad.mit.edu 37 7 100204123 100204123 + Nonsense_Mutation SNP C C A TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr7:100204123C>A ENST00000223061.5 + 6 1090 c.810C>A c.(808-810)taC>taA p.Y270* NM_002593.3 NP_002584.2 Q15113 PCOC1_HUMAN procollagen C-endopeptidase enhancer 270 CUB 2. multicellular organismal development extracellular space collagen binding|heparin binding|peptidase activator activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 23 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) CAGCCTCCTACAAGACCCTGC 0.622000 7 50 0.0293803 0.0295851 1 1 0 PAFAH2 5051 broad.mit.edu 37 1 26303187 26303187 + Silent SNP C C T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr1:26303187C>T ENST00000374282.3 - 8 923 c.744G>A c.(742-744)aaG>aaA p.K248K PAFAH2_ENST00000374284.1_Silent_p.K248K NM_000437.3 NP_000428.2 Q99487 PAFA2_HUMAN platelet-activating factor acetylhydrolase 2, 40kDa 248 lipid catabolic process cytoplasm 1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1) 9 Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649) ATTGGGTCTCCTTGGCCAAAG 0.448000 9 35 0 0 1 0 0 USH1C 10083 broad.mit.edu 37 11 17537815 17537815 + Silent SNP G G A TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr11:17537815G>A ENST00000005226.7 - 15 1232 c.1233C>T c.(1231-1233)taC>taT p.Y411Y USH1C_ENST00000527720.1_Intron|USH1C_ENST00000318024.4_Intron|USH1C_ENST00000527020.1_Intron|USH1C_ENST00000529563.1_Intron NM_153676.3 NP_710142.1 Q9Y6N9 USH1C_HUMAN Usher syndrome 1C (autosomal recessive, severe) 0 equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound apical part of cell|cytoplasm|stereocilium protein binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 48 ATTTGCCATCGTAACGATAAA 0.488000 4 15 0 0 1 0 0 ZNF808 388558 broad.mit.edu 37 19 53056494 53056494 + Missense_Mutation SNP G G C TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr19:53056494G>C ENST00000359798.4 + 5 505 c.325G>C c.(325-327)Gaa>Caa p.E109Q NM_001039886.3 NP_001034975.2 Q8N4W9 ZN808_HUMAN zinc finger protein 808 109 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(8)|kidney(3)|lung(12)|urinary_tract(1) 24 OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213) AATTGAGAAAGAAATTCATAA 0.398000 33 220 0 0 1 0 0 AFF3 3899 broad.mit.edu 37 2 100623782 100623782 + Silent SNP C C T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr2:100623782C>T ENST00000317233.4 - 5 550 c.315G>A c.(313-315)gtG>gtA p.V105V AFF3_ENST00000409236.1_Silent_p.V105V|AFF3_ENST00000356421.2_Silent_p.V130V|AFF3_ENST00000409579.1_Silent_p.V130V NM_002285.2 NP_002276.2 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 105 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 CGATCTTGTTCACAGGAGTCT 0.458000 8 68 0 0 1 0 0 NT5DC1 221294 broad.mit.edu 37 6 116565100 116565100 + Missense_Mutation SNP A A T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr6:116565100A>T ENST00000319550.4 + 12 1363 c.1281A>T c.(1279-1281)agA>agT p.R427S NM_152729.2 NP_689942.2 Q5TFE4 NT5D1_HUMAN 5'-nucleotidase domain containing 1 427 hydrolase activity|metal ion binding large_intestine(2)|lung(2)|prostate(2)|skin(1)|stomach(1) 8 all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469) all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112) AATTTACAAGATTCTCTTCAA 0.348000 7 43 0 0 1 0 0 PCDHAC1 56135 broad.mit.edu 37 5 140308245 140308245 + Missense_Mutation SNP A A T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr5:140308245A>T ENST00000253807.2 + 1 1768 c.1768A>T c.(1768-1770)Agt>Tgt p.S590C PCDHA13_ENST00000289272.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.S590C|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron NM_018898.3 NP_061721.2 NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 65 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGATGCTGACAGTGGTTCTAA 0.517000 13 101 0 0 1 0 0 LPL 4023 broad.mit.edu 37 8 19811639 19811639 + Missense_Mutation SNP C C G TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr8:19811639C>G ENST00000311322.8 + 5 1020 c.550C>G c.(550-552)Cca>Gca p.P184A NM_000237.2 NP_000228.1 P06858 LIPL_HUMAN lipoprotein lipase 184 P -> R (in LPL deficiency; Nijmegen; loss of activity). fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 36 Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216) Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083) AGGCCTCGATCCAGCTGGACC 0.458000 10 72 0 0 1 0 0 MAML3 55534 broad.mit.edu 37 4 140811099 140811099 + Splice_Site SNP C C T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr4:140811099C>T ENST00000398940.1 - 1 107 c.108_splice c.e1+1 p.Q36_splice MAML3_ENST00000509479.2_Silent_p.Q497Q|MAML3_ENST00000327122.5_Silent_p.Q341Q Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 497 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity p.Q497Q(2) breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) gctgctgctgctgctgctgct 0.542000 4 41 0 0 1 0 0 CIRBP 1153 broad.mit.edu 37 19 1271983 1271983 + Silent SNP G G A TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr19:1271983G>A ENST00000444172.2 + 5 410 c.276G>A c.(274-276)cgG>cgA p.R92R CIRBP_ENST00000591935.1_Silent_p.R145R|CIRBP_ENST00000588090.1_Silent_p.R145R|CIRBP_ENST00000586773.1_Silent_p.R145R|CIRBP_ENST00000413636.2_Silent_p.R111R|CIRBP_ENST00000586472.1_Silent_p.R145R|CIRBP_ENST00000587896.1_Silent_p.R145R|CIRBP_ENST00000320936.5_Silent_p.R145R|CIRBP_ENST00000585630.1_Silent_p.R145R|CIRBP_ENST00000587323.1_Silent_p.R145R|CIRBP_ENST00000589660.1_Silent_p.R145R|CIRBP_ENST00000589686.1_Silent_p.R145R|CIRBP_ENST00000589710.1_Silent_p.R145R|CIRBP_ENST00000588230.1_Silent_p.R145R|CIRBP_ENST00000588030.1_Silent_p.R145R|CIRBP_ENST00000589235.1_Silent_p.R145R Q14011 CIRBP_HUMAN cold inducible RNA binding protein 145 Gly-rich. mRNA stabilization|positive regulation of translation|response to cold|response to UV|stress granule assembly nucleoplasm|stress granule mRNA 3'-UTR binding|nucleotide binding|protein binding|SSU rRNA binding|translation repressor activity endometrium(1)|large_intestine(1)|lung(3) 5 Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000332)|all_lung(49;0.000498)|Breast(49;0.0014) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTTGCAGCCGGAGTCAGAGTG 0.602000 17 72 0 0 1 0 0 GBA2 57704 broad.mit.edu 37 9 35738153 35738153 + Missense_Mutation SNP G G A TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr9:35738153G>A ENST00000378088.1 - 1 479 c.97C>T c.(97-99)Cca>Tca p.P33S GBA2_ENST00000545786.1_Intron|GBA2_ENST00000378094.4_Intron|GBA2_ENST00000467252.1_Intron|GBA2_ENST00000378103.3_Intron Q9HCG7 GBA2_HUMAN glucosidase, beta (bile acid) 2 255 bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum beta-glucosidase activity|glucosylceramidase activity NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3) 21 all_epithelial(49;0.167) Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) TAGCGGCCTGGAGTCGAGGAA 0.532000 7 34 0 0 1 0 0 EEF2 1938 broad.mit.edu 37 19 3983151 3983151 + Silent SNP G G C TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr19:3983151G>C ENST00000309311.6 - 3 445 c.357C>G c.(355-357)ctC>ctG p.L119L NM_001961.3 NP_001952.1 P13639 EF2_HUMAN eukaryotic translation elongation factor 2 119 cytosol|ribonucleoprotein complex GTP binding|GTPase activity|protein binding|translation elongation factor activity endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18) CGGTGACTCGGAGGGCAGCAG 0.617000 7 57 0 0 1 0 0 ARHGEF12 23365 broad.mit.edu 37 11 120347948 120347948 + Missense_Mutation SNP G G A TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr11:120347948G>A ENST00000397843.2 + 35 3552 c.3386G>A c.(3385-3387)cGg>cAg p.R1129Q ARHGEF12_ENST00000532993.1_Missense_Mutation_p.R1026Q|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.R1110Q NM_015313.2 NP_056128.1 Q9NZN5 ARHGC_HUMAN Rho guanine nucleotide exchange factor (GEF) 12 1129 PH. apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2) 61 Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231) CTAATCTGTCGGATGGCTGCA 0.388000 T MLL AML 5 45 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176709227 176709227 + Missense_Mutation SNP G G A TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr1:176709227G>A ENST00000367662.3 + 14 5210 c.4046G>A c.(4045-4047)cGg>cAg p.R1349Q NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1349 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding p.R1349P(1) NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 TCATCCCCACGGGTCGGCATC 0.522000 12 99 0 0 1 0 0 DYSF 8291 broad.mit.edu 37 2 71740879 71740879 + Missense_Mutation SNP G G A TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr2:71740879G>A ENST00000258104.3 + 6 768 c.491G>A c.(490-492)gGa>gAa p.G164E DYSF_ENST00000409762.1_Missense_Mutation_p.G195E|DYSF_ENST00000409651.1_Missense_Mutation_p.G196E|DYSF_ENST00000409366.1_Missense_Mutation_p.G165E|DYSF_ENST00000394120.2_Missense_Mutation_p.G165E|DYSF_ENST00000413539.2_Missense_Mutation_p.G195E|DYSF_ENST00000410020.3_Missense_Mutation_p.G196E|DYSF_ENST00000410041.1_Missense_Mutation_p.G196E|DYSF_ENST00000409582.3_Missense_Mutation_p.G195E|DYSF_ENST00000409744.1_Missense_Mutation_p.G165E|DYSF_ENST00000429174.2_Missense_Mutation_p.G164E NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 164 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 GAGGACCAGGGACTCACTGGA 0.642000 4 34 0 0 1 0 0 TAF5 6877 broad.mit.edu 37 10 105133311 105133311 + Silent SNP C C T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr10:105133311C>T ENST00000369839.3 + 2 779 c.756C>T c.(754-756)gtC>gtT p.V252V TAF5_ENST00000351396.4_Silent_p.V252V NM_006951.3 NP_008882.2 Q15542 TAF5_HUMAN TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa 252 histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2) 15 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198) TGGAGCTAGTCTACAATCAAC 0.393000 7 51 0 0 1 0 0 CASP8 841 broad.mit.edu 37 2 202151270 202151270 + Nonsense_Mutation SNP C C T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr2:202151270C>T ENST00000358485.4 + 9 1766 c.1570C>T c.(1570-1572)Cag>Tag p.Q524* CASP8_ENST00000432109.2_Nonsense_Mutation_p.Q465*|CASP8_ENST00000264275.5_Nonsense_Mutation_p.Q482*|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000323492.7_Nonsense_Mutation_p.Q450*|CASP8_ENST00000264274.9_Nonsense_Mutation_p.Q381*|CASP8_ENST00000392259.2_3'UTR NM_001080125.1 NP_001073594.1 Q14790 CASP8_HUMAN caspase 8, apoptosis-related cysteine peptidase 465 activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding p.Q482*(1) breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3) 52 ACAGATGCCTCAGCCTACTTT 0.373000 HNSCC(4;0.00038) 11 62 0 0 1 0 0 IFT122 55764 broad.mit.edu 37 3 129183550 129183550 + Silent SNP C C T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr3:129183550C>T ENST00000296266.3 + 8 834 c.642C>T c.(640-642)ggC>ggT p.G214G IFT122_ENST00000507564.1_Silent_p.G214G|IFT122_ENST00000504021.1_Silent_p.G116G|IFT122_ENST00000440957.2_Silent_p.G13G|IFT122_ENST00000431818.2_Silent_p.G13G|IFT122_ENST00000349441.2_Silent_p.G111G|IFT122_ENST00000347300.2_Silent_p.G163G|IFT122_ENST00000348417.2_Silent_p.G163G NM_052985.2 NP_443711.2 Q9HBG6 IF122_HUMAN intraflagellar transport 122 homolog (Chlamydomonas) 163 camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure microtubule basal body|photoreceptor connecting cilium breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 ACAAAAATGGCGAGGAGAAAG 0.507000 31 117 0 0 1 0 0 TSPAN18 90139 broad.mit.edu 37 11 44950696 44950696 + Missense_Mutation SNP C C G TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr11:44950696C>G ENST00000340160.3 + 9 953 c.714C>G c.(712-714)atC>atG p.I238M TSPAN18_ENST00000520358.2_Missense_Mutation_p.I238M NM_130783.4 NP_570139.3 Q96SJ8 TSN18_HUMAN tetraspanin 18 238 integral to membrane endometrium(1)|large_intestine(6)|lung(3) 10 TCGCCATGATCTTTGCCATGT 0.592000 20 90 0 0 1 0 0 TMEM161B 153396 broad.mit.edu 37 5 87502921 87502921 + Missense_Mutation SNP C C T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr5:87502921C>T ENST00000296595.6 - 6 647 c.523G>A c.(523-525)Gga>Aga p.G175R TMEM161B_ENST00000511218.1_5'UTR|TMEM161B_ENST00000509387.1_Missense_Mutation_p.G48R|TMEM161B_ENST00000506536.1_5'UTR|TMEM161B_ENST00000514135.1_Missense_Mutation_p.G175R|TMEM161B_ENST00000512429.1_Missense_Mutation_p.G164R NM_153354.3 NP_699185.1 Q8NDZ6 T161B_HUMAN transmembrane protein 161B 175 integral to membrane endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1) 20 all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1) OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26) AAAAAAAATCCAAAGGTGACA 0.318000 7 51 0 0 1 0 0 SSH3 54961 broad.mit.edu 37 11 67075902 67075902 + Missense_Mutation SNP C C A TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr11:67075902C>A ENST00000308127.4 + 10 1212 c.1034C>A c.(1033-1035)gCa>gAa p.A345E SSH3_ENST00000376757.5_Missense_Mutation_p.A345E|SSH3_ENST00000308298.7_Intron|SSH3_ENST00000532181.1_3'UTR NM_017857.3 NP_060327.3 Q8TE77 SSH3_HUMAN slingshot protein phosphatase 3 345 Tyrosine-protein phosphatase. regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton|nucleus actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) TGGAACGCAGCAAACCTGGAG 0.647000 10 16 2.17888e-05 2.33221e-05 1 1 0 SLC4A5 57835 broad.mit.edu 37 2 74531626 74531626 + Silent SNP G G A TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr2:74531626G>A ENST00000394019.2 - 7 658 c.261C>T c.(259-261)atC>atT p.I87I SLC4A5_ENST00000423644.1_Silent_p.I87I|SLC4A5_ENST00000377632.1_Silent_p.I87I|SLC4A5_ENST00000377634.4_Silent_p.I87I|SLC4A5_ENST00000359484.4_Intron|SLC4A5_ENST00000357822.5_Silent_p.I87I|SLC4A5_ENST00000346834.4_Silent_p.I87I|SLC4A5_ENST00000483195.1_Intron|SLC4A5_ENST00000358683.4_Intron|RP11-287D1.3_ENST00000451608.2_3'UTR NM_133478.2 NP_597812.1 Q9BY07 S4A5_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 5 87 apical plasma membrane|integral to membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 GAGTCCTGCTGATAAGATCCA 0.597000 18 97 0 0 1 0 0 ZNF518B 85460 broad.mit.edu 37 4 10446619 10446619 + Missense_Mutation SNP G G C TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr4:10446619G>C ENST00000326756.3 - 3 1772 c.1334C>G c.(1333-1335)tCt>tGt p.S445C NM_053042.2 NP_444270.2 Q9C0D4 Z518B_HUMAN zinc finger protein 518B 445 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 42 GTGCACACTAGAATTTGGCAT 0.328000 8 74 0 0 1 0 0 BCKDK 10295 broad.mit.edu 37 16 31121413 31121413 + Missense_Mutation SNP C C T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr16:31121413C>T ENST00000394951.1 + 6 1014 c.391C>T c.(391-393)Cgt>Tgt p.R131C BCKDK_ENST00000287507.3_Missense_Mutation_p.R131C|BCKDK_ENST00000219794.6_Missense_Mutation_p.R131C|BCKDK_ENST00000394950.3_Missense_Mutation_p.R131C O14874 BCKD_HUMAN branched chain ketoacid dehydrogenase kinase 131 branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation mitochondrial alpha-ketoglutarate dehydrogenase complex [3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|ATP binding|protein binding|protein serine/threonine kinase activity|two-component sensor activity breast(1)|stomach(1) 2 GCTATATATCCGTGCCTTCCA 0.587000 16 73 0 0 1 0 0 PWWP2B 170394 broad.mit.edu 37 10 134219519 134219519 + Silent SNP G G A TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr10:134219519G>A ENST00000305233.5 + 2 1574 c.1515G>A c.(1513-1515)ccG>ccA p.P505P PWWP2B_ENST00000368609.4_Intron NM_138499.3 NP_612508.3 Q6NUJ5 PWP2B_HUMAN PWWP domain containing 2B 505 PWWP. central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1) 9 all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224) OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186) CTTGGTGGCCGGCGCGTGTTC 0.597000 12 98 0 0 1 0 0 C16orf89 146556 broad.mit.edu 37 16 5112513 5112513 + Missense_Mutation SNP G G A TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr16:5112513G>A ENST00000315997.5 - 2 472 c.271C>T c.(271-273)Cgc>Tgc p.R91C C16orf89_ENST00000422873.1_Missense_Mutation_p.R129C|C16orf89_ENST00000474471.3_Missense_Mutation_p.R91C|C16orf89_ENST00000350219.4_Missense_Mutation_p.R129C|C16orf89_ENST00000472572.3_Missense_Mutation_p.R91C|ALG1_ENST00000588623.1_Intron NM_152459.4 NP_689672.4 Q6UX73 CP089_HUMAN chromosome 16 open reading frame 89 91 extracellular region breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 12 ATCCCCACGCGCAGGCTCAGC 0.567000 12 66 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152583231 152583231 + Missense_Mutation SNP T T C TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr6:152583231T>C ENST00000367255.5 - 101 19509 c.18908A>G c.(18907-18909)cAt>cGt p.H6303R SYNE1_ENST00000341594.5_Missense_Mutation_p.H5915R|SYNE1_ENST00000448038.1_Missense_Mutation_p.H6232R|SYNE1_ENST00000356820.4_Missense_Mutation_p.H827R|SYNE1_ENST00000423061.1_Missense_Mutation_p.H6232R|SYNE1_ENST00000265368.4_Missense_Mutation_p.H6303R NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 6303 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) AAATTCTTGATGTAGGCTTTC 0.373000 HNSCC(10;0.0054) 7 48 0 0 1 0 0 GBA2 57704 broad.mit.edu 37 9 35738164 35738164 + Missense_Mutation SNP G G A TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr9:35738164G>A ENST00000378088.1 - 1 468 c.86C>T c.(85-87)tCt>tTt p.S29F GBA2_ENST00000545786.1_Intron|GBA2_ENST00000378094.4_Intron|GBA2_ENST00000467252.1_Intron|GBA2_ENST00000378103.3_Intron Q9HCG7 GBA2_HUMAN glucosidase, beta (bile acid) 2 0 bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum beta-glucosidase activity|glucosylceramidase activity NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3) 21 all_epithelial(49;0.167) Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) AGTCGAGGAAGAGAAAAATAA 0.527000 9 46 0 0 1 0 0 LAMB2 3913 broad.mit.edu 37 3 49168546 49168546 + Missense_Mutation SNP C C T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr3:49168546C>T ENST00000418109.1 - 8 916 c.752G>A c.(751-753)cGt>cAt p.R251H LAMB2_ENST00000305544.4_Missense_Mutation_p.R251H NM_002292.3 NP_002283.3 P55268 LAMB2_HUMAN laminin, beta 2 (laminin S) 251 Laminin N-terminal. cell adhesion laminin-11 complex|laminin-3 complex structural molecule activity NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CGTGTGTAGACGAGTCAGGTT 0.582000 11 56 0 0 1 0 0 GMDS 2762 broad.mit.edu 37 6 1742748 1742748 + Missense_Mutation SNP G G A TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr6:1742748G>A ENST00000380815.4 - 8 1113 c.844C>T c.(844-846)Cgg>Tgg p.R282W GMDS_ENST00000530927.1_Missense_Mutation_p.R252W NM_001500.3 NP_001491.1 O60547 GMDS_HUMAN GDP-mannose 4,6-dehydratase 282 'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion coenzyme binding|GDP-mannose 4,6-dehydratase activity GMDS/PDE8B(2) breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1) 21 Ovarian(93;0.0733) all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802) Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563) ACAAATTCCCGGACACTATGG 0.453000 15 69 0 0 1 0 0 ARHGAP31 57514 broad.mit.edu 37 3 119101981 119101981 + Missense_Mutation SNP C C T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr3:119101981C>T ENST00000264245.4 + 6 1122 c.590C>T c.(589-591)gCa>gTa p.A197V NM_020754.2 NP_065805.2 Q2M1Z3 RHG31_HUMAN Rho GTPase activating protein 31 197 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion|lamellipodium GTPase activator activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 67 GCCTTCCTTGCAGTCCGGGTC 0.453000 24 110 0 0 1 0 0 VNN3 55350 broad.mit.edu 37 6 133055617 133055617 + Missense_Mutation SNP A A T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr6:133055617A>T ENST00000417437.2 - 1 214 c.215T>A c.(214-216)gTa>gAa p.V72E VNN3_ENST00000427187.2_Splice_Site|VNN3_ENST00000425515.2_Splice_Site|VNN3_ENST00000392393.3_Splice_Site|VNN3_ENST00000367927.5_Splice_Site|VNN3_ENST00000423615.2_Splice_Site|VNN3_ENST00000275223.3_Splice_Site|VNN3_ENST00000519686.2_Splice_Site|VNN3_ENST00000509351.1_Splice_Site|VNN3_ENST00000450865.2_Splice_Site|VNN3_ENST00000414302.2_Splice_Site|VNN3_ENST00000392394.2_Splice_Site|VNN3_ENST00000207771.3_Splice_Site vanin 3 cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1) 8 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168) AAAGGGTAATACCTGCTTCGC 0.403000 4 60 0 0 1 0 0 HELB 92797 broad.mit.edu 37 12 66703855 66703855 + Missense_Mutation SNP G G A rs144350290 TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr12:66703855G>A ENST00000247815.4 + 4 1206 c.1147G>A c.(1147-1149)Gaa>Aaa p.E383K NM_033647.3 NP_387467.2 Q8NG08 HELB_HUMAN helicase (DNA) B 383 DNA replication, synthesis of RNA primer ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(2;0.000142) GBM - Glioblastoma multiforme(28;0.0265) TGTCGATGTCGAAAAGGTGCT 0.418000 24 216 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62294685 62294685 + Missense_Mutation SNP C C G TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr11:62294685C>G ENST00000378024.4 - 5 7478 c.7204G>C c.(7204-7206)Gga>Cga p.G2402R AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 2402 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TCCACCTCTCCTTTTGCCTTG 0.483000 22 101 0 0 1 0 0 RARG 5916 broad.mit.edu 37 12 53609533 53609533 + Missense_Mutation SNP G G A TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr12:53609533G>A ENST00000425354.2 - 4 717 c.230C>T c.(229-231)tCg>tTg p.S77L RARG_ENST00000394426.1_Missense_Mutation_p.S77L|RARG_ENST00000338561.5_Missense_Mutation_p.S66L|RARG_ENST00000327550.3_Missense_Mutation_p.S5L|RARG_ENST00000543726.1_Intron|RARG_ENST00000543762.1_Intron NM_000966.5 NP_000957.1 P13631 RARG_HUMAN retinoic acid receptor, gamma 77 Modulating. canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid integral to membrane|transcription factor complex retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755) GGGCGAGGGCGAGCTGGGCAC 0.617000 8 75 0 0 1 0 0 C1orf174 339448 broad.mit.edu 37 1 3807459 3807459 + Missense_Mutation SNP C C T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr1:3807459C>T ENST00000361605.3 - 3 390 c.292G>A c.(292-294)Gaa>Aaa p.E98K C1orf174_ENST00000486765.1_5'UTR NM_207356.2 NP_997239.2 Q8IYL3 CA174_HUMAN chromosome 1 open reading frame 174 98 endometrium(1)|large_intestine(5)|lung(4)|prostate(1) 11 all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227) all_cancers(23;5.09e-25)|all_epithelial(116;9.35e-17)|all_lung(118;1.09e-06)|Lung NSC(185;0.000139)|all_neural(13;0.00287)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0219)|all_hematologic(16;0.027)|Colorectal(325;0.0276)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127) Epithelial(90;1.55e-39)|OV - Ovarian serous cystadenocarcinoma(86;5.99e-23)|GBM - Glioblastoma multiforme(42;2.22e-17)|Colorectal(212;1.08e-05)|COAD - Colon adenocarcinoma(227;5.49e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000365)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.19) GCACTGCCTTCAGCAAACTCA 0.522000 13 62 0 0 1 0 0 GOLGA8IP 283796 broad.mit.edu 37 15 23261911 23261911 + Missense_Mutation SNP G G C TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr15:23261911G>C ENST00000450802.3 + 12 1121 c.1023G>C c.(1021-1023)gaG>gaC p.E341D GACAAGAAGAGAGGATTCGGG 0.567000 8 58 0 0 1 0 0 WASF2 10163 broad.mit.edu 37 1 27744792 27744792 + Missense_Mutation SNP G G T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr1:27744792G>T ENST00000430629.2 - 4 612 c.397C>A c.(397-399)Ctc>Atc p.L133I WASF2_ENST00000536657.1_Missense_Mutation_p.L133I NM_001201404.1|NM_006990.3 NP_001188333.1|NP_008921.1 Q9Y6W5 WASF2_HUMAN WAS protein family, member 2 133 actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger actin cytoskeleton|lamellipodium actin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 18 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481) AGATTGTTGAGAGGGGGAGGA 0.423000 11 63 0.0692343 0.0694747 1 1 0 TOMM20 9804 broad.mit.edu 37 1 235292010 235292010 + Silent SNP G G A TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr1:235292010G>A ENST00000366607.4 - 1 241 c.21C>T c.(19-21)gcC>gcT p.A7A NM_014765.2 NP_055580.1 Q15388 TOM20_HUMAN translocase of outer mitochondrial membrane 20 homolog (yeast) 7 protein targeting to mitochondrion integral to membrane|mitochondrial outer membrane translocase complex P-P-bond-hydrolysis-driven protein transmembrane transporter activity|unfolded protein binding lung(2)|prostate(1) 3 Ovarian(103;0.0398) all_cancers(173;0.177)|Prostate(94;0.0166) OV - Ovarian serous cystadenocarcinoma(106;6.33e-05)|Epithelial(3;8.26e-05) CGGCGGCGATGGCGCTGTTCC 0.612000 21 111 0 0 1 0 0 PHACTR1 221692 broad.mit.edu 37 6 13206093 13206093 + Silent SNP G G A TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr6:13206093G>A ENST00000379350.1 + 7 840 c.711G>A c.(709-711)tcG>tcA p.S237S PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000457702.2_Silent_p.S92S|PHACTR1_ENST00000332995.7_Silent_p.S237S Q9C0D0 PHAR1_HUMAN phosphatase and actin regulator 1 237 cell junction|cytoplasm|synapse actin binding|protein phosphatase inhibitor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 26 Breast(50;0.0427)|Ovarian(93;0.12) all_hematologic(90;0.122)|Lung SC(78;0.195) Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239) TGAAACTGTCGCCTCCGCTAC 0.572000 11 72 0 0 1 0 0 THPO 7066 broad.mit.edu 37 3 184090793 184090793 + Silent SNP G G C TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr3:184090793G>C ENST00000204615.7 - 6 784 c.570C>G c.(568-570)ctC>ctG p.L190L EIF2B5_ENST00000444495.1_Intron|THPO_ENST00000421442.2_Intron|THPO_ENST00000477594.1_Intron|THPO_ENST00000445696.2_Silent_p.L186L NM_000460.2|NM_001177597.1|NM_001177598.1 NP_000451.1|NP_001171068.1|NP_001171069.1 P40225 TPO_HUMAN thrombopoietin 190 cell proliferation|platelet activation extracellular space cytokine activity|growth factor activity|hormone activity NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1) 16 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CGTTCAGTGTGAGGACTAGAG 0.577000 32 67 0 0 1 0 0 ADAMTS8 11095 broad.mit.edu 37 11 130281428 130281428 + Missense_Mutation SNP C C T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr11:130281428C>T ENST00000257359.6 - 6 2340 c.1634G>A c.(1633-1635)gGa>gAa p.G545E NM_007037.4 NP_008968.4 Q9UP79 ATS8_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 8 545 TSP type-1 1. negative regulation of cell proliferation|proteolysis proteinaceous extracellular matrix heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 10 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;0.039)|Lung(977;0.213) AAACTGTACTCCTCCTCCACA 0.587000 9 59 0 0 1 0 0 PPIP5K2 23262 broad.mit.edu 37 5 102490547 102490547 + Missense_Mutation SNP G G C TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr5:102490547G>C ENST00000321521.9 + 13 1876 c.1303G>C c.(1303-1305)Gat>Cat p.D435H PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000358359.3_Missense_Mutation_p.D435H|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.D435H O43314 VIP2_HUMAN diphosphoinositol pentakisphosphate kinase 2 435 inositol metabolic process cytosol acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 GGAAGTGCTAGATATTGCACG 0.279000 8 55 0 0 1 0 0 MYH6 4624 broad.mit.edu 37 14 23855643 23855643 + Silent SNP G G A TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr14:23855643G>A ENST00000405093.3 - 33 4910 c.4840C>T c.(4840-4842)Ctg>Ttg p.L1614L MYH6_ENST00000356287.3_Silent_p.L1614L NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 1614 adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) TTCACCCTCAGGACCTCGTTG 0.602000 25 140 0 0 1 0 0 CHST6 4166 broad.mit.edu 37 16 75513163 75513163 + Silent SNP G G C TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr16:75513163G>C ENST00000332272.4 - 3 743 c.564C>G c.(562-564)ctC>ctG p.L188L CHST6_ENST00000390664.2_Silent_p.L188L|RP11-77K12.4_ENST00000530512.3_RNA NM_021615.4 NP_067628.1 Q9GZX3 CHST6_HUMAN carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 188 keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process Golgi membrane|integral to membrane N-acetylglucosamine 6-O-sulfotransferase activity central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 CGGGGTCGCTGAGCAGCGGGT 0.692000 11 61 0 0 1 0 0 ST8SIA5 29906 broad.mit.edu 37 18 44260196 44260196 + Missense_Mutation SNP C C T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr18:44260196C>T ENST00000315087.7 - 7 1600 c.940G>A c.(940-942)Gag>Aag p.E314K ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000538168.1_Missense_Mutation_p.E350K|ST8SIA5_ENST00000536490.1_Missense_Mutation_p.E283K NM_013305.4 NP_037437.2 O15466 SIA8E_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 314 glycosphingolipid biosynthetic process|protein glycosylation integral to Golgi membrane kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2) 22 TGCACCTCCTCACAGAGCTCC 0.627000 15 96 0 0 1 0 0 MDGA2 161357 broad.mit.edu 37 14 47426671 47426671 + Silent SNP G G A TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr14:47426671G>A ENST00000426342.1 - 9 1847 c.1101C>T c.(1099-1101)taC>taT p.Y367Y MDGA2_ENST00000439988.2_Silent_p.Y596Y|MDGA2_ENST00000357362.3_Silent_p.Y367Y|MDGA2_ENST00000399232.2_Silent_p.Y665Y NM_182830.3 NP_878250.2 Q7Z553 MDGA2_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 2 596 Ig-like 4. spinal cord motor neuron differentiation anchored to membrane|plasma membrane breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5) 76 TCTTCACAGCGTACTCTGTGT 0.443000 14 56 0 0 1 0 0 HLA-DQB1 3119 broad.mit.edu 37 6 32629142 32629142 + Missense_Mutation SNP G G A rs9273626 TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr6:32629142G>A ENST00000399084.1 - 5 932 c.754C>T c.(754-756)Cgt>Tgt p.R252C HLA-DQB1_ENST00000374943.4_Missense_Mutation_p.R252C|HLA-DQB1_ENST00000399082.3_Intron|HLA-DQB1_ENST00000399079.3_Intron|XXbac-BPG254F23.6_ENST00000443574.1_RNA|HLA-DQB1_ENST00000434651.2_Missense_Mutation_p.R252C P01920 DQB1_HUMAN major histocompatibility complex, class II, DQ beta 1 252 H -> R (in allele DQB1*05:01, allele DQB1*05:02, allele DQB1*05:03, allele DQB1*06:01, allele DQB1*06:02, allele DQB1*06:03, allele DQB1*06:04, allele DQB1*06:09, allele DQB1*06:12 and allele DQB1*06:36; dbSNP:rs1140342). antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity breast(1)|large_intestine(1)|lung(1)|pancreas(1) 4 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CTCCTTTGACGGATGATAAGG 0.557000 T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia 4 39 0 0 1 0 0 TIMP4 7079 broad.mit.edu 37 3 12198897 12198897 + Silent SNP G G T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr3:12198897G>T ENST00000287814.4 - 2 735 c.225C>A c.(223-225)atC>atA p.I75I SYN2_ENST00000432424.2_RNA NM_003256.3 NP_003247.1 Q99727 TIMP4_HUMAN TIMP metallopeptidase inhibitor 4 75 NTR. metal ion binding|metalloendopeptidase inhibitor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 11 TTATCTGTTTGATTTCATACC 0.512000 3 38 2.56e-06 2.82382e-06 1 1 0 PTPN12 5782 broad.mit.edu 37 7 77256106 77256106 + Silent SNP C C G TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr7:77256106C>G ENST00000248594.6 + 13 1382 c.1110C>G c.(1108-1110)ccC>ccG p.P370P PTPN12_ENST00000435495.2_Silent_p.P240P|PTPN12_ENST00000415482.2_Silent_p.P251P NM_002835.3 NP_002826.3 Q05209 PTN12_HUMAN protein tyrosine phosphatase, non-receptor type 12 370 Interaction with TGFB1I1 (By similarity). soluble fraction non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 39 CACCTTCTCCCCCTTCAGCTT 0.458000 8 52 0 0 1 0 0 DYRK1A 1859 broad.mit.edu 37 21 38884218 38884218 + Missense_Mutation SNP G G A rs144190333 byFrequency TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr21:38884218G>A ENST00000339659.3 + 11 3119 c.1649G>A c.(1648-1650)cGt>cAt p.R550H DYRK1A_ENST00000398960.2_Missense_Mutation_p.R559H|DYRK1A_ENST00000338785.3_3'UTR|DYRK1A_ENST00000398956.2_Silent_p.A517A|DYRK1A_ENST00000455387.2_Missense_Mutation_p.R331H NM_130436.2 NP_569120.1 Q13627 DYR1A_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A 559 nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation nuclear speck ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 TTTCAGGTGCGTCAGCAATTT 0.413000 10 46 0 0 1 0 0 BSX 390259 broad.mit.edu 37 11 122848393 122848393 + Silent SNP G G A TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr11:122848393G>A ENST00000343035.2 - 3 714 c.666C>T c.(664-666)gaC>gaT p.D222D NM_001098169.1 NP_001091639.1 Q3C1V8 BSH_HUMAN brain-specific homeobox 222 endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2) 10 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361) GCTCCCCCTCGTCTCCAATGT 0.731000 8 56 0 0 1 0 0 DNAJC13 23317 broad.mit.edu 37 3 132222148 132222148 + Missense_Mutation SNP C C T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr3:132222148C>T ENST00000260818.6 + 41 5055 c.4807C>T c.(4807-4809)Cca>Tca p.P1603S NM_015268.3 NP_056083.3 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 1603 heat shock protein binding breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1) 34 TCCAGAAAATCCAACCATAAG 0.473000 4 78 0 0 1 0 0 CRY1 1407 broad.mit.edu 37 12 107415954 107415954 + Missense_Mutation SNP G G C TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr12:107415954G>C ENST00000008527.5 - 2 1042 c.175C>G c.(175-177)Ctt>Gtt p.L59V NM_004075.3 NP_004066.1 Q16526 CRY1_HUMAN cryptochrome 1 (photolyase-like) 59 DNA photolyase. DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1) 29 AGATCCTCAAGACACTGAAGC 0.313000 18 102 0 0 1 0 0 RANBP2 5903 broad.mit.edu 37 2 109399178 109399178 + Silent SNP C C T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr2:109399178C>T ENST00000283195.6 + 28 9355 c.9229C>T c.(9229-9231)Cta>Tta p.L3077L NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 3077 PPIase cyclophilin-type. carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 CGGTGAACCTCTAGGGCGGAT 0.423000 28 180 0 0 1 0 0 COG2 22796 broad.mit.edu 37 1 230795361 230795361 + Nonsense_Mutation SNP C C G TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr1:230795361C>G ENST00000534989.1 + 2 382 c.47C>G c.(46-48)tCa>tGa p.S16* COG2_ENST00000535166.1_5'UTR|COG2_ENST00000366668.3_Nonsense_Mutation_p.S75*|COG2_ENST00000366669.4_Nonsense_Mutation_p.S75*|COG2_ENST00000494371.1_3'UTR Q14746 COG2_HUMAN component of oligomeric golgi complex 2 75 Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation Golgi membrane|Golgi stack|Golgi transport complex protein binding|protein transporter activity NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3) 27 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.178) GTCAATCTTTCAACAAACTTG 0.353000 12 52 0 0 1 0 0 UGT1A10 54575 broad.mit.edu 37 2 234545887 234545887 + Missense_Mutation SNP C C T rs149598882 byFrequency TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr2:234545887C>T ENST00000344644.5 + 1 788 c.719C>T c.(718-720)aCg>aTg p.T240M UGT1A10_ENST00000373445.1_Missense_Mutation_p.T240M|UGT1A8_ENST00000373450.4_Intron NM_019075.2 NP_061948.1 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3) 32 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008) ACCCCTGTCACGGCATATGAT 0.433000 123 312 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113562942 113562942 + Missense_Mutation SNP C C T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr8:113562942C>T ENST00000297405.5 - 27 4766 c.4522G>A c.(4522-4524)Gat>Aat p.D1508N CSMD3_ENST00000343508.3_Missense_Mutation_p.D1468N|CSMD3_ENST00000352409.3_Missense_Mutation_p.D1508N|CSMD3_ENST00000455883.2_Missense_Mutation_p.D1404N NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1508 CUB 8. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 ATATAAAAATCCGTGTCAAAC 0.313000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 8 55 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113213614 113213614 + Missense_Mutation SNP C C T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr9:113213614C>T ENST00000401783.2 - 23 4192 c.3856G>A c.(3856-3858)Gat>Aat p.D1286N SVEP1_ENST00000302728.8_Missense_Mutation_p.D1286N|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.D1263N NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 1286 EGF-like 3; calcium-binding (Potential). cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 GCCACACCATCAACACAGATT 0.393000 4 49 0 0 1 0 0 TMTC3 160418 broad.mit.edu 37 12 88588999 88588999 + Missense_Mutation SNP G G T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr12:88588999G>T ENST00000266712.6 + 14 2538 c.2318G>T c.(2317-2319)gGa>gTa p.G773V NM_181783.3 NP_861448.2 Q6ZXV5 TMTC3_HUMAN transmembrane and tetratricopeptide repeat containing 3 774 integral to membrane binding NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1) 31 AATGTGCAAGGAAAACACAAT 0.318000 13 52 5.50884e-06 5.98516e-06 1 1 0 KIAA0319L 79932 broad.mit.edu 37 1 35900587 35900587 + Missense_Mutation SNP C C G TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr1:35900587C>G ENST00000325722.3 - 21 3292 c.3058G>C c.(3058-3060)Gag>Cag p.E1020Q KIAA0319L_ENST00000373266.4_Missense_Mutation_p.E457Q NM_024874.4 NP_079150.3 Q8IZA0 K319L_HUMAN KIAA0319-like 1020 cytoplasmic vesicle part|integral to membrane protein binding breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 34 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) TTGCCCTTCTCTCGGTCTGGC 0.572000 14 61 0 0 1 0 0 RAI1 10743 broad.mit.edu 37 17 17697199 17697199 + Missense_Mutation SNP C C T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr17:17697199C>T ENST00000353383.1 + 3 1406 c.937C>T c.(937-939)Cac>Tac p.H313Y RAI1_ENST00000261641.6_Missense_Mutation_p.H313Y NM_030665.3 NP_109590.3 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 313 Gln-rich. cytoplasm|nucleus zinc ion binding breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7) 48 READ - Rectum adenocarcinoma(1115;0.0276) CAAGTATCAGCACTACGGGCA 0.637000 26 106 0 0 1 0 0 THAP2 83591 broad.mit.edu 37 12 72068160 72068160 + Missense_Mutation SNP T T G TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr12:72068160T>G ENST00000308086.2 + 2 1750 c.249T>G c.(247-249)tgT>tgG p.C83W RP11-293I14.2_ENST00000548802.1_Missense_Mutation_p.C59W NM_031435.3 NP_113623.1 Q9H0W7 THAP2_HUMAN THAP domain containing, apoptosis associated protein 2 83 nucleolus DNA binding|metal ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1) 10 TTGATTTTTGTACCCATATAA 0.333000 12 63 0 0 1 0 0 CUX2 23316 broad.mit.edu 37 12 111746110 111746110 + Silent SNP G G T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr12:111746110G>T ENST00000261726.6 + 13 1285 c.1131G>T c.(1129-1131)ctG>ctT p.L377L NM_015267.3 NP_056082.2 O14529 CUX2_HUMAN cut-like homeobox 2 377 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 CCATGAAGCTGGCCTCCAGCA 0.652000 31 107 2.47316e-13 2.83628e-13 1 1 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 5 105 0 0 1 0 0 CSGALNACT1 55790 broad.mit.edu 37 8 19277993 19277993 + Silent SNP C C T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr8:19277993C>T ENST00000454498.2 - 7 2003 c.990G>A c.(988-990)ctG>ctA p.L330L CSGALNACT1_ENST00000518542.1_5'UTR|CSGALNACT1_ENST00000332246.6_Silent_p.L330L|CSGALNACT1_ENST00000544602.1_Silent_p.L330L|CSGALNACT1_ENST00000522854.1_Silent_p.L330L|CSGALNACT1_ENST00000311540.4_Silent_p.L330L NM_001130518.1 NP_001123990.1 Q8TDX6 CGAT1_HUMAN chondroitin sulfate N-acetylgalactosaminyltransferase 1 330 anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process Golgi cisterna membrane|integral to Golgi membrane|soluble fraction glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Colorectal(111;0.182) ATTCTCCATTCAGCTGGATGA 0.483000 28 144 0 0 1 0 0 ZNF99 7652 broad.mit.edu 37 19 22941701 22941701 + Missense_Mutation SNP C C A TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr19:22941701C>A ENST00000397104.3 - 5 736 c.737G>T c.(736-738)gGa>gTa p.G246V ZNF99_ENST00000596209.1_Missense_Mutation_p.G337V zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) GGGTTTCTTTCCAGTATGAAT 0.373000 4 52 1.23904e-05 1.33116e-05 1 1 0 POLR2J4 84820 broad.mit.edu 37 7 44005513 44005513 + RNA SNP G G A rs2595699 by1000genomes TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr7:44005513G>A ENST00000427076.1 - 0 1379 NR_003655.2 GCCGGAACCAGCCCTCCTCCT 0.637000 4 37 0 0 1 0 0 IL1RL2 8808 broad.mit.edu 37 2 102805656 102805656 + Missense_Mutation SNP C C G TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr2:102805656C>G ENST00000264257.2 + 3 305 c.179C>G c.(178-180)tCt>tGt p.S60C IL1RL2_ENST00000441515.2_Intron|IL1RL2_ENST00000539491.1_Missense_Mutation_p.S60C|IL1RL2_ENST00000481806.1_Intron NM_003854.2 NP_003845.2 Q9HB29 ILRL2_HUMAN interleukin 1 receptor-like 2 60 Ig-like C2-type 1. cellular defense response|innate immune response integral to plasma membrane interleukin-1, Type I, activating receptor activity breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1) 26 TATAAAAATTCTAGCAAAATC 0.413000 9 54 0 0 1 0 0 IBSP 3381 broad.mit.edu 37 4 88732603 88732603 + Silent SNP C C T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr4:88732603C>T ENST00000226284.5 + 7 562 c.495C>T c.(493-495)agC>agT p.S165S NM_004967.3 NP_004958.2 P21815 SIAL_HUMAN integrin-binding sialoprotein 165 Asp/Glu-rich (acidic). biomineral tissue development|cell adhesion|ossification p.S165S(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10) 21 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154) acgaagaaagcgaagcagaag 0.458000 6 41 0 0 1 0 0 DNM1P47 100216544 broad.mit.edu 37 15 102304772 102304772 + RNA SNP T T C TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr15:102304772T>C ENST00000561463.1 + 0 12818 CACAGCGGCGTGACGAGACTC 0.587000 3 12 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195516850 195516850 + Missense_Mutation SNP G G C TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr3:195516850G>C ENST00000463781.3 - 2 2060 c.1601C>G c.(1600-1602)tCt>tGt p.S534C MUC4_ENST00000475231.1_Missense_Mutation_p.S534C|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 539 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) TGAGACCTTAGAGGGGACCCT 0.542000 38 107 0 0 1 0 0 ZNF385A 25946 broad.mit.edu 37 12 54764735 54764735 + Silent SNP G G A TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr12:54764735G>A ENST00000546970.1 - 7 1039 c.750C>T c.(748-750)gtC>gtT p.V250V ZNF385A_ENST00000552382.1_5'UTR|ZNF385A_ENST00000352268.6_Silent_p.V189V|RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|ZNF385A_ENST00000551771.1_Silent_p.V169V|ZNF385A_ENST00000551109.1_Silent_p.V250V|ZNF385A_ENST00000338010.5_Silent_p.V270V|ZNF385A_ENST00000394313.2_Silent_p.V250V Q96PM9 Z385A_HUMAN zinc finger protein 385A 250 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(1) 15 CCTCCGAGTTGACCTTGACAT 0.597000 OREG0021894 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 120 0 0 1 0 0 GUCY2D 3000 broad.mit.edu 37 17 7917290 7917290 + Nonsense_Mutation SNP C C T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr17:7917290C>T ENST00000254854.4 + 12 2506 c.2356C>T c.(2356-2358)Cag>Tag p.Q786* NM_000180.3 NP_000171.1 Q02846 GUC2D_HUMAN guanylate cyclase 2D, membrane (retina-specific) 786 Protein kinase. intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity skin(1) 1 Prostate(122;0.157) CCTGATGAAGCAGTGCTGGGC 0.647000 11 63 0 0 1 0 0 HK3 3101 broad.mit.edu 37 5 176317843 176317843 + Missense_Mutation SNP G G A TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr5:176317843G>A ENST00000292432.5 - 5 605 c.514C>T c.(514-516)Cac>Tac p.H172Y NM_002115.2 NP_002106.2 P52790 HXK3_HUMAN hexokinase 3 (white cell) 172 Glucose-binding (Potential).|Regulatory. glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCCGTCTGGTGACAAGGGAAA 0.587000 7 69 0 0 1 0 0 SDK1 221935 broad.mit.edu 37 7 4116726 4116726 + Missense_Mutation SNP C C T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr7:4116726C>T ENST00000404826.2 + 21 3246 c.3107C>T c.(3106-3108)tCa>tTa p.S1036L SDK1_ENST00000389531.3_Missense_Mutation_p.S1036L NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 1036 Fibronectin type-III 4. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) CAAGGCCTCTCATCTCTCACC 0.577000 7 49 0 0 1 0 0 SPATA31E1 286234 broad.mit.edu 37 9 90500020 90500020 + Silent SNP G G A TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr9:90500020G>A ENST00000325643.5 + 4 684 c.618G>A c.(616-618)ccG>ccA p.P206P NM_178828.4 NP_849150.3 SPATA31 subfamily E, member 1 CACCAGGCCCGATGACCTTCT 0.622000 22 137 0 0 1 0 0 COL6A1 1291 broad.mit.edu 37 21 47422559 47422559 + Missense_Mutation SNP A A G TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr21:47422559A>G ENST00000361866.3 + 33 2483 c.2369A>G c.(2368-2370)aAg>aGg p.K790R COL6A1_ENST00000498614.1_3'UTR NM_001848.2 NP_001839.2 P12109 CO6A1_HUMAN collagen, type VI, alpha 1 790 C-terminal globular domain.|VWFA 2. axon guidance|cell adhesion|protein heterotrimerization collagen type VI|protein complex platelet-derived growth factor binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 all_hematologic(128;0.24) Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649) Palifermin(DB00039) TCGCTGGTCAAGGAGAACTAT 0.592000 18 76 0 0 1 0 0 RAP2B 5912 broad.mit.edu 37 3 152880888 152880888 + Missense_Mutation SNP G G A TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr3:152880888G>A ENST00000323534.2 + 1 860 c.406G>A c.(406-408)Gag>Aag p.E136K NM_002886.2 NP_002877.2 P61225 RAP2B_HUMAN RAP2B, member of RAS oncogene family 136 Rap protein signal transduction|regulation of protein tyrosine kinase activity recycling endosome membrane GTP binding|GTPase activity NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1) 7 LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11) GGCCCTGGCTGAGGAGTGGAG 0.627000 3 28 0 0 1 0 0 DIXDC1 85458 broad.mit.edu 37 11 111839271 111839271 + Silent SNP C C T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr11:111839271C>T ENST00000440460.2 + 3 522 c.225C>T c.(223-225)ccC>ccT p.P75P DIXDC1_ENST00000531396.1_Silent_p.P75P|DIXDC1_ENST00000529225.1_Silent_p.P74P|DIXDC1_ENST00000389821.4_3'UTR NM_001037954.2 NP_001033043.1 Q155Q3 DIXC1_HUMAN DIX domain containing 1 75 CH. multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytosol|focal adhesion actin binding|gamma-tubulin binding|signal transducer activity cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1) 17 all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548) AGCTGAGTCCCGGTAACCAAC 0.438000 11 17 0 0 1 0 0 VPS13C 54832 broad.mit.edu 37 15 62234017 62234017 + Missense_Mutation SNP G G C TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr15:62234017G>C ENST00000261517.5 - 46 5471 c.5398C>G c.(5398-5400)Ctt>Gtt p.L1800V VPS13C_ENST00000249837.3_Missense_Mutation_p.L1757V|VPS13C_ENST00000395898.3_Missense_Mutation_p.L1757V|VPS13C_ENST00000395896.4_Missense_Mutation_p.L1800V NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 1800 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 ACTGGAGGAAGAGAATAATGT 0.348000 12 64 0 0 1 0 0 RIMS1 22999 broad.mit.edu 37 6 72596767 72596767 + Missense_Mutation SNP C C T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr6:72596767C>T ENST00000264839.7 + 1 41 c.41C>T c.(40-42)aCg>aTg p.T14M RIMS1_ENST00000491071.2_Missense_Mutation_p.T14M|RIMS1_ENST00000520567.1_Missense_Mutation_p.T14M|RIMS1_ENST00000518273.1_Missense_Mutation_p.T14M|RIMS1_ENST00000522291.1_Missense_Mutation_p.T14M|RIMS1_ENST00000517960.1_Missense_Mutation_p.T14M|RIMS1_ENST00000348717.5_Missense_Mutation_p.T14M|RIMS1_ENST00000521978.1_Missense_Mutation_p.T14M Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 14 calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 102 all_epithelial(107;0.179)|all_hematologic(105;0.212) CGCCCACCCACGGTGCCTCCC 0.657000 3 28 0 0 1 0 0 FOXD4 2298 broad.mit.edu 37 9 117664 117664 + Silent SNP G G A TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr9:117664G>A ENST00000382500.2 - 1 753 c.456C>T c.(454-456)atC>atT p.I152I NM_207305.4 NP_997188.2 Q12950 FOXD4_HUMAN forkhead box D4 152 I -> V (in dbSNP:rs7031810). axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3) 14 all_lung(41;0.218) all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06) Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157) all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154) GGTTGTGGCGGATGCTGTTCT 0.657000 23 292 0 0 1 0 0 CYP4A11 1579 broad.mit.edu 37 1 47400677 47400677 + Missense_Mutation SNP T T G TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr1:47400677T>G ENST00000310638.4 - 6 816 c.785A>C c.(784-786)cAc>cCc p.H262P CYP4A11_ENST00000371905.1_Missense_Mutation_p.H262P|CYP4A11_ENST00000475477.1_Intron|CYP4A11_ENST00000457840.2_Intron|CYP4A11_ENST00000371904.4_Missense_Mutation_p.H262P NM_000778.3 NP_000769.2 Q02928 CP4AB_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 11 262 long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 36 NADH(DB00157) AGAACCTGTGTGCTGATGGGC 0.577000 18 96 0 0 1 0 0 RHOA 387 broad.mit.edu 37 3 49412948 49412948 + Silent SNP G G A rs147354494 TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr3:49412948G>A ENST00000418115.1 - 2 459 c.75C>T c.(73-75)ttC>ttT p.F25F RHOA_ENST00000422781.1_Silent_p.F25F|RHOA_ENST00000454011.2_Silent_p.F25F NM_001664.2 NP_001655.1 P61586 RHOA_HUMAN ras homolog family member A 25 axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis cytoskeleton|cytosol|plasma membrane GTP binding|GTPase activity|myosin binding cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 12 BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) Atorvastatin(DB01076)|Simvastatin(DB00641) GGTCCTTGCTGAAGACTATGA 0.453000 11 102 0 0 1 0 0 PTPRG 5793 broad.mit.edu 37 3 62254725 62254725 + Missense_Mutation SNP T T C TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr3:62254725T>C ENST00000474889.1 + 20 3267 c.2890T>C c.(2890-2892)Tat>Cat p.Y964H PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.Y935H|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA NM_002841.3 NP_002832.3 P23470 PTPRG_HUMAN protein tyrosine phosphatase, receptor type, G 964 Tyrosine-protein phosphatase 1. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane identical protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065) ATGTGATCAGTATTGGCCAAC 0.358000 16 57 0 0 1 0 0 ATP10A 57194 broad.mit.edu 37 15 25924905 25924905 + Silent SNP G G T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr15:25924905G>T ENST00000356865.6 - 21 4194 c.4083C>A c.(4081-4083)gtC>gtA p.V1361V NM_024490.3 NP_077816.1 O60312 AT10A_HUMAN ATPase, class V, type 10A 1361 ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 103 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) CCAGGGAGCAGACCGGCTGCT 0.662000 8 95 0.000157383 0.000164796 1 1 0 SLC44A3 126969 broad.mit.edu 37 1 95310851 95310851 + Missense_Mutation SNP G G C TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr1:95310851G>C ENST00000271227.6 + 9 1005 c.903G>C c.(901-903)ttG>ttC p.L301F SLC44A3_ENST00000530397.1_3'UTR|SLC44A3_ENST00000467909.1_Missense_Mutation_p.L253F|SLC44A3_ENST00000446120.2_Missense_Mutation_p.L265F|SLC44A3_ENST00000532427.1_Missense_Mutation_p.L221F|SLC44A3_ENST00000529450.1_Missense_Mutation_p.L269F|SLC44A3_ENST00000527077.1_Missense_Mutation_p.L233F|RP11-465K1.2_ENST00000422162.1_RNA NM_001114106.2|NM_001258340.1|NM_001258341.1 NP_001107578.1|NP_001245269.1|NP_001245270.1 Q8N4M1 CTL3_HUMAN solute carrier family 44, member 3 301 integral to membrane|plasma membrane choline transmembrane transporter activity p.L301F(1)|p.L253F(1) breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1) 23 all_lung(203;0.000712)|Lung NSC(277;0.00316) all cancers(265;0.039)|Epithelial(280;0.124) Choline(DB00122) TGCTCGTCTTGATTTTTGTTC 0.408000 13 89 0 0 1 0 0 EFNB1 1947 broad.mit.edu 37 X 68058576 68058576 + Missense_Mutation SNP G G C TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chrX:68058576G>C ENST00000204961.4 + 2 1025 c.245G>C c.(244-246)cGg>cCg p.R82P NM_004429.4 NP_004420.1 P98172 EFNB1_HUMAN ephrin-B1 82 cell adhesion|cell-cell signaling integral to plasma membrane|soluble fraction|synapse ephrin receptor binding breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1) 22 TACCTGGTGCGGCCTGAGCAG 0.552000 3 12 0 0 1 0 0 UTP11L 51118 broad.mit.edu 37 1 38485030 38485030 + Missense_Mutation SNP G G C TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr1:38485030G>C ENST00000373014.4 + 6 603 c.542G>C c.(541-543)gGa>gCa p.G181A UTP11L_ENST00000488453.1_3'UTR|UTP11L_ENST00000537711.1_Intron NM_016037.3 NP_057121.2 Q9Y3A2 UTP11_HUMAN UTP11-like, U3 small nucleolar ribonucleoprotein, (yeast) 181 induction of apoptosis|nerve growth factor receptor signaling pathway|nervous system development|rRNA processing cytoplasm|extracellular space|nucleolus|small-subunit processome protein binding NS(1)|cervix(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 5 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) AAAGTGAAAGGAGTTACCAAT 0.408000 19 89 0 0 1 0 0 CASP8 841 broad.mit.edu 37 2 202149538 202149538 + Splice_Site SNP G G C TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr2:202149538G>C ENST00000358485.4 + 8 1175 c.e8-1 CASP8_ENST00000432109.2_Splice_Site|CASP8_ENST00000264275.5_Splice_Site|CASP8_ENST00000392266.3_Splice_Site|CASP8_ENST00000323492.7_Splice_Site|CASP8_ENST00000264274.9_Splice_Site|CASP8_ENST00000392259.2_Splice_Site NM_001080125.1 NP_001073594.1 Q14790 CASP8_HUMAN caspase 8, apoptosis-related cysteine peptidase activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3) 52 TCACTTTTCAGGGGCTTTGAC 0.418000 HNSCC(4;0.00038) 8 41 0 0 1 0 0 ATP8A1 10396 broad.mit.edu 37 4 42524296 42524296 + Missense_Mutation SNP C C G TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr4:42524296C>G ENST00000381668.5 - 22 2059 c.1828G>C c.(1828-1830)Gct>Cct p.A610P ATP8A1_ENST00000264449.10_Missense_Mutation_p.A595P NM_006095.2 NP_006086.1 Q9Y2Q0 AT8A1_HUMAN ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 610 ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Phosphatidylserine(DB00144) TCAGCCACAGCAAAACATAAA 0.423000 4 61 0 0 1 0 0 MED16 10025 broad.mit.edu 37 19 881615 881615 + Missense_Mutation SNP G G A TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr19:881615G>A ENST00000312090.6 - 7 1235 c.1085C>T c.(1084-1086)tCg>tTg p.S362L MED16_ENST00000589119.1_Missense_Mutation_p.S362L|MED16_ENST00000325464.1_Missense_Mutation_p.S362L|MED16_ENST00000269814.4_Missense_Mutation_p.S362L|MED16_ENST00000395808.3_Missense_Mutation_p.S362L|MED16_ENST00000606828.1_Intron Q9Y2X0 MED16_HUMAN mediator complex subunit 16 362 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 21 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GTTGGTGAGCGAGATGGGCAG 0.632000 15 79 0 0 1 0 0 MAP3K6 9064 broad.mit.edu 37 1 27690449 27690449 + Missense_Mutation SNP C C T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr1:27690449C>T ENST00000493901.1 - 6 1062 c.823G>A c.(823-825)Gac>Aac p.D275N MAP3K6_ENST00000357582.2_Missense_Mutation_p.D275N|MAP3K6_ENST00000374040.3_Missense_Mutation_p.D267N NM_004672.3 NP_004663.3 O95382 M3K6_HUMAN mitogen-activated protein kinase kinase kinase 6 275 activation of JUN kinase activity ATP binding|magnesium ion binding|MAP kinase kinase kinase activity breast(4)|central_nervous_system(2)|lung(3)|ovary(1) 10 all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) ATGATGATGTCGGGGCTCAGC 0.632000 6 24 0 0 1 0 0 SORCS1 114815 broad.mit.edu 37 10 108923961 108923961 + Silent SNP C C T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr10:108923961C>T ENST00000263054.6 - 1 331 c.324G>A c.(322-324)agG>agA p.R108R SORCS1_ENST00000344440.6_Silent_p.R108R NM_001206570.1|NM_052918.4 NP_001193499.1|NP_443150.3 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 108 integral to membrane neuropeptide receptor activity|protein binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) CGCTCCGTCTCCTCCGGCCGG 0.706000 8 31 0 0 1 0 0 CTCF 10664 broad.mit.edu 37 16 67650654 67650654 + Missense_Mutation SNP G G A TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr16:67650654G>A ENST00000264010.4 + 5 1403 c.959G>A c.(958-960)cGt>cAt p.R320H CTCF_ENST00000401394.1_5'UTR NM_006565.3 NP_006556.1 P49711 CTCF_HUMAN CCCTC-binding factor (zinc finger protein) 320 chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 79 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577) CTAGGTACTCGTCCTCACAAG 0.488000 23 214 0 0 1 0 0 ZNF212 7988 broad.mit.edu 37 7 148950826 148950826 + Missense_Mutation SNP C C G TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr7:148950826C>G ENST00000335870.2 + 5 936 c.808C>G c.(808-810)Cta>Gta p.L270V NM_012256.3 NP_036388.2 Q9UDV6 ZN212_HUMAN zinc finger protein 212 270 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|identical protein binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1) 9 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00171) GGACTCTACTCTAGAGGAGCC 0.557000 16 80 0 0 1 0 0 ETAA1 54465 broad.mit.edu 37 2 67631576 67631576 + Missense_Mutation SNP G G A TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr2:67631576G>A ENST00000272342.5 + 5 1892 c.1762G>A c.(1762-1764)Gaa>Aaa p.E588K ETAA1_ENST00000462772.1_Intron NM_019002.3 NP_061875.2 Q9NY74 ETAA1_HUMAN Ewing tumor-associated antigen 1 588 cytoplasm|nucleus autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1) 33 ATTTGCCAATGAAATTATTAA 0.348000 15 88 0 0 1 0 0 HIPK2 28996 broad.mit.edu 37 7 139258011 139258011 + Missense_Mutation SNP G G C TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr7:139258011G>C ENST00000406875.3 - 15 3353 c.3259C>G c.(3259-3261)Ctg>Gtg p.L1087V HIPK2_ENST00000428878.2_Missense_Mutation_p.L1060V NM_022740.4 NP_073577.3 Q9H2X6 HIPK2_HUMAN homeodomain interacting protein kinase 2 1087 Autoinhibitory domain (AID). apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction centrosome|nuclear membrane|PML body ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Melanoma(164;0.205) GCTGCAGCCAGATGCGGGTGC 0.706000 9 56 0 0 1 0 0 PLBD1 79887 broad.mit.edu 37 12 14689560 14689560 + Missense_Mutation SNP C C T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr12:14689560C>T ENST00000240617.5 - 5 1295 c.643G>A c.(643-645)Ggc>Agc p.G215S NM_024829.5 NP_079105.4 Q6P4A8 PLBL1_HUMAN phospholipase B domain containing 1 215 lipid catabolic process extracellular region hydrolase activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 16 TTTAGGCTGCCGTTTTTTGTG 0.448000 17 97 0 0 1 0 0 MROH6 642475 broad.mit.edu 37 8 144654286 144654286 + Missense_Mutation SNP C C T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr8:144654286C>T ENST00000398882.3 - 2 620 c.364G>A c.(364-366)Gag>Aag p.E122K NM_001100878.1 NP_001094348.1 maestro heat-like repeat family member 6 AAGCCAGCCTCCTCCAGGCAG 0.662000 5 30 0 0 1 0 0 KCNH2 3757 broad.mit.edu 37 7 150648846 150648846 + Silent SNP G G A TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr7:150648846G>A ENST00000392968.2 - 5 2467 c.1347C>T c.(1345-1347)taC>taT p.Y449Y KCNH2_ENST00000262186.5_Silent_p.Y545Y|KCNH2_ENST00000430723.3_Silent_p.Y545Y|KCNH2_ENST00000330883.4_Silent_p.Y205Y Q12809 KCNH2_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 2 545 blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 42 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) CGGCCGCGCCGTACTCTGAGT 0.647000 6 33 0 0 1 0 0 OR2T2 401992 broad.mit.edu 37 1 248616180 248616180 + Missense_Mutation SNP C C G TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr1:248616180C>G ENST00000342927.3 + 1 104 c.82C>G c.(82-84)Ctc>Gtc p.L28V NM_001004136.1 NP_001004136.1 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, member 2 28 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 37 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CCCCGGGCTTCTCTTTGCAAT 0.527000 24 233 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237802319 237802319 + Missense_Mutation SNP G G C TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr1:237802319G>C ENST00000366574.2 + 46 7250 c.6933G>C c.(6931-6933)gaG>gaC p.E2311D RYR2_ENST00000360064.6_Missense_Mutation_p.E2309D|RYR2_ENST00000542537.1_Missense_Mutation_p.E2295D NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 2311 4 X approximate repeats. E -> D (in CPVT1). cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CTTTAGGGGAGAGTGTGGAGG 0.388000 3 28 0 0 1 0 0 FAM193B 54540 broad.mit.edu 37 5 176959554 176959554 + Missense_Mutation SNP C C T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr5:176959554C>T ENST00000443375.2 - 6 2384 c.826G>A c.(826-828)Gag>Aag p.E276K FAM193B_ENST00000508298.1_5'UTR|FAM193B_ENST00000514747.1_Missense_Mutation_p.E389K|FAM193B_ENST00000329540.5_5'UTR Q6IPW0 Q6IPW0_HUMAN family with sequence similarity 193, member B 414 kidney(1)|large_intestine(3) 4 TCCTCTTCCTCACCCAGCCCC 0.607000 4 9 0 0 1 0 0 ARHGAP24 83478 broad.mit.edu 37 4 86844894 86844894 + Missense_Mutation SNP G G A TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr4:86844894G>A ENST00000395184.1 + 4 828 c.362G>A c.(361-363)cGc>cAc p.R121H ARHGAP24_ENST00000503995.1_Missense_Mutation_p.R121H|ARHGAP24_ENST00000395183.2_Missense_Mutation_p.R26H NM_001025616.2 NP_001020787.2 Q8N264 RHG24_HUMAN Rho GTPase activating protein 24 121 PH. angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell projection|cytoskeleton|cytosol|focal adhesion GTPase activator activity|protein binding breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1) 24 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000571) AAGTCAATCCGCCGAGTCATA 0.483000 6 48 0 0 1 0 0 KCNMB2 10242 broad.mit.edu 37 3 178560474 178560474 + Missense_Mutation SNP G G A TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr3:178560474G>A ENST00000432997.1 + 5 809 c.457G>A c.(457-459)Gaa>Aaa p.E153K RP11-385J1.2_ENST00000425330.1_RNA|RP11-385J1.2_ENST00000432385.1_RNA|KCNMB2_ENST00000452583.1_Missense_Mutation_p.E153K|RP11-385J1.2_ENST00000437488.1_RNA|KCNMB2_ENST00000420517.2_Missense_Mutation_p.E153K|KCNMB2_ENST00000358316.3_Missense_Mutation_p.E153K|RP11-385J1.2_ENST00000451742.1_RNA NM_005832.3 NP_005823.1 Q9Y691 KCMB2_HUMAN potassium large conductance calcium-activated channel, subfamily M, beta member 2 153 detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction voltage-gated potassium channel complex calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 12 all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125) OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841) AAAAAATTTTGAAGAATCCAT 0.398000 35 98 0 0 1 0 0 CEP192 55125 broad.mit.edu 37 18 13113697 13113697 + Missense_Mutation SNP C C G TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr18:13113697C>G ENST00000506447.1 + 41 7240 c.7160C>G c.(7159-7161)tCt>tGt p.S2387C CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000430049.2_Missense_Mutation_p.S1912C|CEP192_ENST00000325971.8_Missense_Mutation_p.S1791C NM_032142.3 NP_115518.3 B7ZMF0 B7ZMF0_HUMAN centrosomal protein 192kDa 1982 NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 TTCCAACTCTCTGGACAAGTG 0.378000 8 25 0 0 1 0 0 KMT2B 9757 broad.mit.edu 37 19 36211939 36211939 + Nonsense_Mutation SNP C C T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr19:36211939C>T ENST00000420124.1 + 3 1690 c.1690C>T c.(1690-1692)Cga>Tga p.R564* WBP7_ENST00000222270.7_Nonsense_Mutation_p.R564*|KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000341701.1_Intron ACCTGTCCTGCGACCTCCCAT 0.622000 8 6 0 0 1 0 0 RRNAD1 51093 broad.mit.edu 37 1 156704058 156704058 + Silent SNP G G A TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr1:156704058G>A ENST00000368216.4 + 6 1524 c.894G>A c.(892-894)ctG>ctA p.L298L RRNAD1_ENST00000476229.1_Intron|RRNAD1_ENST00000368218.4_Intron NM_015997.3 NP_057081.3 Q96FB5 RRNAD_HUMAN ribosomal RNA adenine dimethylase domain containing 1 298 integral to membrane rRNA (adenine-N6,N6-)-dimethyltransferase activity NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3) 9 GCTACCCACTGAGTCAGTGGG 0.622000 13 46 0 0 1 0 0 DMPK 1760 broad.mit.edu 37 19 46281393 46281393 + Missense_Mutation SNP C C G TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr19:46281393C>G ENST00000600757.1 - 5 1384 c.697G>C c.(697-699)Gat>Cat p.D233H DMPK_ENST00000458663.2_Missense_Mutation_p.D223H|DMPK_ENST00000291270.4_Missense_Mutation_p.D223H|DMPK_ENST00000343373.4_Missense_Mutation_p.D233H|DMPK_ENST00000354227.5_Missense_Mutation_p.D223H|DMPK_ENST00000447742.2_Missense_Mutation_p.D223H Q09013 DMPK_HUMAN dystrophia myotonica-protein kinase 233 Protein kinase. regulation of heart contraction ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2) 16 Ovarian(192;0.0308)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24) ACCGTTCCATCTGCCCGCAGC 0.617000 4 12 0 0 1 0 0 SLC2A12 154091 broad.mit.edu 37 6 134312437 134312437 + Silent SNP C C T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr6:134312437C>T ENST00000275230.5 - 5 1865 c.1710G>A c.(1708-1710)gtG>gtA p.V570V NM_145176.2 NP_660159.1 Q8TD20 GTR12_HUMAN solute carrier family 2 (facilitated glucose transporter), member 12 570 endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 17 Breast(56;0.214)|Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123) TGTTGTTTTTCACATAGTTCC 0.368000 10 75 0 0 1 0 0 SEMA4G 57715 broad.mit.edu 37 10 102739712 102739712 + Missense_Mutation SNP G G A TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr10:102739712G>A ENST00000210633.3 + 9 1169 c.1091G>A c.(1090-1092)cGc>cAc p.R364H MRPL43_ENST00000370241.3_Intron|MRPL43_ENST00000318325.2_Intron|SEMA4G_ENST00000370250.4_Missense_Mutation_p.R364H|MRPL43_ENST00000370242.4_Intron|SEMA4G_ENST00000517724.1_Missense_Mutation_p.R364H Q9NTN9 SEM4G_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G 364 Sema. cell differentiation|nervous system development integral to membrane receptor activity breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Colorectal(252;0.234) Epithelial(162;3.71e-09)|all cancers(201;2.1e-07) CGCTGGGGTCGCTATGAGGGT 0.637000 20 147 0 0 1 0 0 TMEM132D 121256 broad.mit.edu 37 12 130185231 130185231 + Missense_Mutation SNP C C A TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr12:130185231C>A ENST00000422113.2 - 2 418 c.92G>T c.(91-93)cGa>cTa p.R31L NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 31 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) AAGGATCCCTCGACCTTCCGT 0.547000 5 54 1 1 1 1 0 MAB21L1 4081 broad.mit.edu 37 13 36049604 36049604 + Silent SNP C C T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr13:36049604C>T ENST00000379919.4 - 1 1228 c.672G>A c.(670-672)tcG>tcA p.S224S NBEA_ENST00000310336.4_Intron|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000379939.2_Intron NM_005584.4 NP_005575.1 Q13394 MB211_HUMAN mab-21-like 1 (C. elegans) 224 anatomical structure morphogenesis nucleus breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 20 Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202) all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115) CGCTCTCCGCCGAGCTCTGCT 0.612000 11 94 0 0 1 0 0 HHAT 55733 broad.mit.edu 37 1 210637960 210637960 + Missense_Mutation SNP G G A TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr1:210637960G>A ENST00000367010.1 + 8 1195 c.968G>A c.(967-969)cGc>cAc p.R323H HHAT_ENST00000391905.3_Missense_Mutation_p.R323H|HHAT_ENST00000261458.3_Missense_Mutation_p.R323H|HHAT_ENST00000308852.6_Missense_Mutation_p.R278H|HHAT_ENST00000413764.2_Missense_Mutation_p.R323H|HHAT_ENST00000545781.1_Missense_Mutation_p.R260H|HHAT_ENST00000367009.1_Missense_Mutation_p.R13H|HHAT_ENST00000545154.1_Missense_Mutation_p.R324H|HHAT_ENST00000541565.1_Missense_Mutation_p.R186H|HHAT_ENST00000537898.1_Missense_Mutation_p.R258H NM_001170580.1 NP_001164051.1 Q5VTY9 HHAT_HUMAN hedgehog acyltransferase 323 multicellular organismal development endoplasmic reticulum membrane|integral to membrane GTP binding breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215) GCCCTCCCCCGCTGCGTGAGC 0.592000 11 65 0 0 1 0 0 PKP4 8502 broad.mit.edu 37 2 159519946 159519946 + Missense_Mutation SNP G G C TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr2:159519946G>C ENST00000389757.3 + 15 2691 c.2566G>C c.(2566-2568)Ggc>Cgc p.G856R PKP4_ENST00000389759.3_Missense_Mutation_p.G856R|PKP4_ENST00000495123.1_3'UTR|AC005042.4_ENST00000342892.4_RNA NM_001005476.1 NP_001005476.1 Q99569 PKP4_HUMAN plakophilin 4 856 G -> S (in Ref. 1; CAA57478). cell adhesion desmosome protein binding breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 61 CCTCTCTGCTGGCAACTGGAA 0.453000 HNSCC(62;0.18) 8 50 0 0 1 0 0 GHSR 2693 broad.mit.edu 37 3 172166087 172166087 + Silent SNP G G A TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr3:172166087G>A ENST00000241256.2 - 1 159 c.117C>T c.(115-117)ccC>ccT p.P39P GHSR_ENST00000427970.1_Silent_p.P39P NM_198407.2 NP_940799.1 Q92847 GHSR_HUMAN growth hormone secretagogue receptor 39 actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 33 Ovarian(172;0.00143)|Breast(254;0.197) Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) GCAGCGGCGCGGGGAAGAGCT 0.687000 7 42 0 0 1 0 0 PENK 5179 broad.mit.edu 37 8 57354189 57354189 + Missense_Mutation SNP G G A TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr8:57354189G>A ENST00000314922.3 - 2 522 c.446C>T c.(445-447)tCg>tTg p.S149L PENK_ENST00000523274.1_5'UTR|PENK_ENST00000451791.2_Missense_Mutation_p.S149L NM_006211.3 NP_006202.1 P01210 PENK_HUMAN proenkephalin 149 neuropeptide signaling pathway extracellular region neuropeptide hormone activity|opioid peptide activity central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 21 all_lung(136;0.229) Epithelial(17;0.000873)|all cancers(17;0.0069) ATTGGCCAGCGAGTCGTCCTC 0.537000 21 99 0 0 1 0 0 CECR2 27443 broad.mit.edu 37 22 18022239 18022239 + Missense_Mutation SNP C C T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr22:18022239C>T ENST00000262608.8 + 15 2344 c.2344C>T c.(2344-2346)Cgc>Tgc p.R782C CECR2_ENST00000400585.2_Missense_Mutation_p.R640C|CECR2_ENST00000400573.4_Missense_Mutation_p.R781C NM_031413.3 NP_113601.2 Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 823 chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 59 all_epithelial(15;0.139) Lung(27;0.146) TCACCAGCCTCGCACTCTCGG 0.592000 9 47 0 0 1 0 0 ZBBX 79740 broad.mit.edu 37 3 167023497 167023497 + Silent SNP G G T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr3:167023497G>T ENST00000392766.2 - 17 1999 c.1659C>A c.(1657-1659)tcC>tcA p.S553S ZBBX_ENST00000392767.2_Silent_p.S553S|ZBBX_ENST00000455345.2_Silent_p.S553S|ZBBX_ENST00000307529.5_Silent_p.S553S|ZBBX_ENST00000392764.1_Silent_p.S524S NM_001199201.1|NM_024687.3 NP_001186130.1|NP_078963.2 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 553 intracellular zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 70 TCAATTCCAAGGATTCTTTGA 0.328000 4 59 0.014758 0.0149651 1 1 0 NCAM1 4684 broad.mit.edu 37 11 113130973 113130973 + Missense_Mutation SNP G G A TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr11:113130973G>A ENST00000316851.7 + 15 2029 c.2029G>A c.(2029-2031)Gag>Aag p.E677K NCAM1_ENST00000533760.1_Missense_Mutation_p.E559K|NCAM1_ENST00000397957.4_3'UTR NM_001242607.1|NM_181351.4 NP_001229536.1|NP_851996.2 P13591 NCAM1_HUMAN neural cell adhesion molecule 1 687 Fibronectin type-III 2. axon guidance|interferon-gamma-mediated signaling pathway anchored to membrane|extracellular region|Golgi membrane|integral to membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 49 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) CGTGGTGGCTGAGAACCAGCA 0.557000 13 81 0 0 1 0 0 BCL6 604 broad.mit.edu 37 3 187447612 187447612 + Missense_Mutation SNP G G C TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr3:187447612G>C ENST00000406870.2 - 5 947 c.581C>G c.(580-582)tCt>tGt p.S194C BCL6_ENST00000232014.4_Missense_Mutation_p.S194C|RP11-211G3.3_ENST00000437407.1_Intron|RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000450123.2_Missense_Mutation_p.S194C NM_001706.4 NP_001697.2 P41182 BCL6_HUMAN B-cell CLL/lymphoma 6 194 negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 40 all_cancers(143;9.45e-12)|Ovarian(172;0.0418) OV - Ovarian serous cystadenocarcinoma(80;1.76e-18) GBM - Glioblastoma multiforme(93;0.0141) CATGGAATAAGAGGCTGGCGG 0.617000 """T, Mis""" """IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R, POU2AF1, ARHH, EIF4A2, SFRS3""" """NHL, CLL""" 12 78 0 0 1 0 0 RFX7 64864 broad.mit.edu 37 15 56393610 56393610 + Missense_Mutation SNP T T C TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr15:56393610T>C ENST00000423270.1 - 7 757 c.758A>G c.(757-759)tAt>tGt p.Y253C RFX7_ENST00000317318.6_Missense_Mutation_p.Y253C|RFX7_ENST00000422057.1_Missense_Mutation_p.Y156C|RFX7_ENST00000559447.2_Missense_Mutation_p.Y156C NM_022841.5 NP_073752.5 Q2KHR2 RFX7_HUMAN regulatory factor X, 7 156 regulation of transcription, DNA-dependent nucleus DNA binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 GGTGCCTATATAGTGACTTTT 0.453000 6 19 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11058168 11058168 + RNA SNP A A T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr21:11058168A>T ENST00000470054.1 - 0 479 B melanoma antigen family, member 2 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) TACATCTTTCAGGAGCTTGGT 0.388000 4 97 0 0 1 0 0 SLC5A10 125206 broad.mit.edu 37 17 18922828 18922828 + Missense_Mutation SNP C C T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr17:18922828C>T ENST00000317977.6 + 12 1815 c.1244C>T c.(1243-1245)tCa>tTa p.S415L SLC5A10_ENST00000417251.2_Missense_Mutation_p.S409L|SLC5A10_ENST00000395643.2_Missense_Mutation_p.S418L|SLC5A10_ENST00000395645.3_Missense_Mutation_p.S445L|SLC5A10_ENST00000395647.2_Missense_Mutation_p.S461L|SLC5A10_ENST00000395642.1_Missense_Mutation_p.S415L A0PJK1 SC5AA_HUMAN solute carrier family 5 (sodium/sugar cotransporter), member 10 445 sodium ion transport|transmembrane transport integral to membrane transporter activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3) 24 TACATGCAGTCAGTGACCAGC 0.632000 4 27 0 0 1 0 0 WNT8B 7479 broad.mit.edu 37 10 102239703 102239703 + Missense_Mutation SNP G G T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr10:102239703G>T ENST00000343737.5 + 3 303 c.175G>T c.(175-177)Gcc>Tcc p.A59S NM_003393.3 NP_003384.2 Q93098 WNT8B_HUMAN wingless-type MMTV integration site family, member 8B 59 anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|determination of dorsal identity|endoderm development|eye development|gastrulation|hypothalamus development|negative regulation of anterior neural cell fate commitment of the neural plate by Wnt receptor signaling pathway|otic placode formation|positive regulation of gene expression|response to estradiol stimulus|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|signal transducer activity breast(1)|large_intestine(1)|ovary(1)|skin(1) 4 Colorectal(252;0.117) Epithelial(162;1.87e-10)|all cancers(201;1.64e-08) GTATCAGTTTGCCTGGGACCG 0.547000 7 50 5.18039e-06 5.64956e-06 1 1 0 BMS1P20 96610 broad.mit.edu 37 22 22664056 22664056 + RNA SNP T T C rs3178309 TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr22:22664056T>C ENST00000426066.1 + 0 623 NR_027293.1 ATAAAGTATATGATTTTGTGT 0.348000 4 41 0 0 1 0 0 CYP4A11 1579 broad.mit.edu 37 1 47400197 47400197 + Missense_Mutation SNP C C G TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr1:47400197C>G ENST00000310638.4 - 7 856 c.825G>C c.(823-825)caG>caC p.Q275H CYP4A11_ENST00000371905.1_Missense_Mutation_p.Q275H|CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000457840.2_Missense_Mutation_p.E120Q|CYP4A11_ENST00000371904.4_Missense_Mutation_p.Q276H NM_000778.3 NP_000769.2 Q02928 CP4AB_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 11 275 long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 36 NADH(DB00157) CCCCCTCCTTCTGTAGTTGAG 0.532000 11 77 0 0 1 0 0 TRMT2B 79979 broad.mit.edu 37 X 100275562 100275562 + Missense_Mutation SNP G G A TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chrX:100275562G>A ENST00000338687.7 - 10 1752 c.947C>T c.(946-948)tCt>tTt p.S316F TRMT2B_ENST00000372935.1_Missense_Mutation_p.S361F|TRMT2B_ENST00000372939.1_Missense_Mutation_p.S316F|TRMT2B_ENST00000372936.3_Missense_Mutation_p.S361F|TRMT2B_ENST00000372931.5_Missense_Mutation_p.S361F|TRMT2B_ENST00000545398.1_Missense_Mutation_p.S361F Q96GJ1 TRM2_HUMAN tRNA methyltransferase 2 homolog B (S. cerevisiae) 361 tRNA (uracil-5-)-methyltransferase activity breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 24 CTGAGCCAGAGAGAGGCCAAT 0.438000 22 42 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152325211 152325211 + Nonsense_Mutation SNP G G T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr1:152325211G>T ENST00000388718.5 - 3 5123 c.5051C>A c.(5050-5052)tCa>tAa p.S1684* FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1684 calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TATGGATTCTGACTGTCCATG 0.488000 56 350 1.63038e-21 1.89992e-21 1 1 0 CRAT 1384 broad.mit.edu 37 9 131860841 131860841 + Missense_Mutation SNP C C T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr9:131860841C>T ENST00000318080.2 - 9 1468 c.1174G>A c.(1174-1176)Gac>Aac p.D392N RP11-247A12.1_ENST00000434250.1_RNA NM_000755.3|NM_001257363.1 NP_000746.2|NP_001244292.1 P43155 CACP_HUMAN carnitine O-acetyltransferase 392 energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix carnitine O-acetyltransferase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2) 13 UCEC - Uterine corpus endometrioid carcinoma (4;0.0178) L-Carnitine(DB00583) TTCTCGATGTCGCTCTTGATC 0.602000 30 135 0 0 1 0 0 UFL1 23376 broad.mit.edu 37 6 97000466 97000466 + Silent SNP C C G TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr6:97000466C>G ENST00000369278.4 + 18 2160 c.2094C>G c.(2092-2094)acC>acG p.T698T NM_015323.4 NP_056138.1 O94874 UFL1_HUMAN UFM1-specific ligase 1 698 negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation endoplasmic reticulum|nucleus protein binding|UFM1 conjugating enzyme activity AGTTTTCAACCCACAGCATGC 0.423000 6 42 0 0 1 0 0 LIFR 3977 broad.mit.edu 37 5 38481728 38481728 + Missense_Mutation SNP G G T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr5:38481728G>T ENST00000263409.4 - 20 3425 c.3263C>A c.(3262-3264)aCa>aAa p.T1088K LIFR_ENST00000453190.2_Missense_Mutation_p.T1088K NM_002310.5 NP_002301.1 P42702 LIFR_HUMAN leukemia inhibitory factor receptor alpha 1088 positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2) 78 all_lung(31;0.00021) AAAAAAGTTTGTAAAGGACCA 0.413000 T PLAG1 salivary adenoma 27 128 4.87955e-14 5.64076e-14 1 1 0 SGSM1 129049 broad.mit.edu 37 22 25264420 25264420 + Missense_Mutation SNP C C A TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr22:25264420C>A ENST00000400358.4 + 11 1129 c.1072C>A c.(1072-1074)Cac>Aac p.H358N SGSM1_ENST00000400359.4_Missense_Mutation_p.H358N NM_001098497.1|NM_001098498.1 NP_001091967.1|NP_001091968.1 Q2NKQ1 SGSM1_HUMAN small G protein signaling modulator 1 358 Golgi apparatus Rab GTPase activator activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 41 CAAGGGCGGGCACCTCCTGCA 0.647000 13 62 9.05144e-12 1.02583e-11 1 1 0 STOML3 161003 broad.mit.edu 37 13 39546701 39546701 + Missense_Mutation SNP A A C TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr13:39546701A>C ENST00000379631.4 - 4 604 c.260T>G c.(259-261)gTg>gGg p.V87G STOML3_ENST00000423210.1_Missense_Mutation_p.V78G NM_145286.2 NP_660329.1 Q8TAV4 STML3_HUMAN stomatin (EPB72)-like 3 87 integral to membrane|plasma membrane breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1) 11 Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743) all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137) TTTGACAAACACATCTATGCA 0.368000 18 111 0 0 1 0 0 DCAF12L1 139170 broad.mit.edu 37 X 125685553 125685553 + Nonsense_Mutation SNP G G A TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chrX:125685553G>A ENST00000371126.1 - 1 1281 c.1039C>T c.(1039-1041)Cga>Tga p.R347* NM_178470.4 NP_848565.2 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 347 breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 CCACCCTCTCGAGAACACAGG 0.612000 14 37 0 0 1 0 0 USP19 10869 broad.mit.edu 37 3 49152992 49152992 + Missense_Mutation SNP C C G TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr3:49152992C>G ENST00000453664.1 - 12 2055 c.1737G>C c.(1735-1737)gaG>gaC p.E579D USP19_ENST00000434032.2_Missense_Mutation_p.E589D|USP19_ENST00000398888.2_Missense_Mutation_p.E488D|USP19_ENST00000417901.1_Missense_Mutation_p.E591D|USP19_ENST00000398892.3_Missense_Mutation_p.E528D|USP19_ENST00000398896.1_Missense_Mutation_p.E296D|USP19_ENST00000398898.2_Missense_Mutation_p.E528D NM_001199161.1|NM_001199162.1 NP_001186090.1|NP_001186091.1 O94966 UBP19_HUMAN ubiquitin specific peptidase 19 488 ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy endoplasmic reticulum membrane|integral to membrane ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) ACAccttcttctcttcctctt 0.552000 12 36 0 0 1 0 0 P2RY2 5029 broad.mit.edu 37 11 72945652 72945652 + Missense_Mutation SNP G G T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr11:72945652G>T ENST00000311131.2 + 3 915 c.448G>T c.(448-450)Gct>Tct p.A150S P2RY2_ENST00000393597.2_Missense_Mutation_p.A150S|P2RY2_ENST00000393596.2_Missense_Mutation_p.A150S NM_002564.2|NM_176072.1 NP_002555.2|NP_788086.1 P41231 P2RY2_HUMAN purinergic receptor P2Y, G-protein coupled, 2 150 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2) 25 Suramin(DB04786) GGCCCGCTACGCTCGCCGGGT 0.701000 17 59 3.41278e-10 3.83772e-10 1 1 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr1:145367739A>G ENST00000342960.5 + 83 10370 c.10335A>G c.(10333-10335)aaA>aaG p.K3445K NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3445 p.K3445K(4) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ggaaggggaaaaaaagaaggg 0.413000 4 79 0 0 1 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43769222 43769222 + Silent SNP G G A TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr12:43769222G>A ENST00000389420.3 - 36 5405 c.5406C>T c.(5404-5406)ttC>ttT p.F1802F NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 1802 GON. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) TTATTTTGCTGAAAACAGTGT 0.343000 9 53 0 0 1 0 0 MED1 5469 broad.mit.edu 37 17 37563838 37563838 + Missense_Mutation SNP T T C rs149053045 byFrequency TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr17:37563838T>C ENST00000300651.6 - 17 4859 c.4636A>G c.(4636-4638)Atg>Gtg p.M1546V MED1_ENST00000394287.3_Intron NM_004774.3 NP_004765.2 Q15648 MED1_HUMAN mediator complex subunit 1 1546 androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1) 59 Ovarian(249;1.78e-06)|Lung SC(565;0.0262) Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146) UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649) TTACTTGTCATAGACAAGGAC 0.473000 HNSCC(31;0.082) 17 118 0 0 1 0 0 LRRC15 131578 broad.mit.edu 37 3 194080244 194080244 + Missense_Mutation SNP C C T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr3:194080244C>T ENST00000347624.3 - 2 1614 c.1529G>A c.(1528-1530)aGc>aAc p.S510N LRRC15_ENST00000428839.1_Missense_Mutation_p.S516N|LRRC15_ENST00000439944.2_Missense_Mutation_p.S516N NM_130830.4 NP_570843.2 Q8TF66 LRC15_HUMAN leucine rich repeat containing 15 510 integral to membrane biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.94e-05) TTCCACAGGGCTGGTTAGCTC 0.577000 9 52 0 0 1 0 0 CDH4 1002 broad.mit.edu 37 20 60508098 60508098 + Silent SNP G G A TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr20:60508098G>A ENST00000360469.5 + 14 2383 c.2295G>A c.(2293-2295)acG>acA p.T765T CDH4_ENST00000543233.1_Silent_p.T691T NM_001794.3 NP_001785.2 P55283 CADH4_HUMAN cadherin 4, type 1, R-cadherin (retinal) 765 adherens junction organization|cell junction assembly calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) AGCGCCACACGAAGCAGCTGC 0.642000 6 52 0 0 1 0 0 TMED4 222068 broad.mit.edu 37 7 44619144 44619144 + Silent SNP G G A TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr7:44619144G>A ENST00000457408.2 - 5 670 c.618C>T c.(616-618)ctC>ctT p.L206L TMED4_ENST00000289577.5_Silent_p.L157L NM_182547.2 NP_872353.2 Q7Z7H5 TMED4_HUMAN transmembrane emp24 protein transport domain containing 4 206 positive regulation of I-kappaB kinase/NF-kappaB cascade|transport endoplasmic reticulum membrane|integral to membrane signal transducer activity breast(1)|endometrium(1)|large_intestine(2)|lung(2) 6 CAGTGAGGATGAGGATGACAG 0.532000 8 68 0 0 1 0 0 MKX 283078 broad.mit.edu 37 10 27964480 27964480 + Missense_Mutation SNP G G A TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr10:27964480G>A ENST00000375790.5 - 6 1274 c.842C>T c.(841-843)aCt>aTt p.T281I MKX_ENST00000419761.1_Missense_Mutation_p.T281I Q8IYA7 MKX_HUMAN mohawk homeobox 281 muscle organ development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2) 16 GTTTTCCAGAGTGTCTGTAAA 0.378000 3 35 0 0 1 0 0 SLC13A4 26266 broad.mit.edu 37 7 135378967 135378967 + Silent SNP G G A TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr7:135378967G>A ENST00000354042.4 - 10 1725 c.1036C>T c.(1036-1038)Ctg>Ttg p.L346L NM_012450.2 NP_036582.2 Q9UKG4 S13A4_HUMAN solute carrier family 13 (sodium/sulfate symporter), member 4 346 integral to plasma membrane sodium:sulfate symporter activity p.L346L(1) breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2) 24 TTCTTGCTCAGAGAGCAGGTC 0.388000 8 50 0 0 1 0 0 CHST14 113189 broad.mit.edu 37 15 40764195 40764195 + Silent SNP C C G TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr15:40764195C>G ENST00000306243.5 + 1 1036 c.783C>G c.(781-783)ccC>ccG p.P261P CHST14_ENST00000559991.1_Silent_p.P236P NM_130468.3 NP_569735.1 Q8NCH0 CHSTE_HUMAN carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14 261 carbohydrate biosynthetic process|dermatan sulfate proteoglycan metabolic process Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity|phosphate binding cervix(1)|large_intestine(1)|prostate(2) 4 all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781) TCACATTCCCCGAGTTCCTGA 0.602000 29 134 0 0 1 0 0 OPRM1 4988 broad.mit.edu 37 6 154412438 154412438 + Missense_Mutation SNP G G A TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr6:154412438G>A ENST00000414028.2 + 3 1045 c.995G>A c.(994-996)tGc>tAc p.C332Y OPRM1_ENST00000522236.1_Missense_Mutation_p.C232Y|OPRM1_ENST00000337049.4_Missense_Mutation_p.C332Y|OPRM1_ENST00000428397.2_Missense_Mutation_p.C332Y|OPRM1_ENST00000434900.2_Missense_Mutation_p.C425Y|OPRM1_ENST00000229768.5_Missense_Mutation_p.C332Y|OPRM1_ENST00000518759.1_Missense_Mutation_p.C251Y|OPRM1_ENST00000330432.7_Missense_Mutation_p.C332Y|OPRM1_ENST00000522555.1_Missense_Mutation_p.C232Y|OPRM1_ENST00000452687.2_Missense_Mutation_p.C332Y|OPRM1_ENST00000360422.4_Missense_Mutation_p.C332Y|OPRM1_ENST00000524163.1_Missense_Mutation_p.C332Y|OPRM1_ENST00000520708.1_Missense_Mutation_p.C232Y|OPRM1_ENST00000435918.2_Missense_Mutation_p.C332Y|OPRM1_ENST00000419506.2_Missense_Mutation_p.C332Y NM_001145284.2 NP_001138756.1 P35372 OPRM_HUMAN opioid receptor, mu 1 332 behavior|negative regulation of cell proliferation|sensory perception endoplasmic reticulum|Golgi apparatus|integral to plasma membrane mu-opioid receptor activity|protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 33 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154) Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193) ACAAACAGCTGCCTCAACCCA 0.428000 20 97 0 0 1 0 0 MUC6 4588 broad.mit.edu 37 11 1016697 1016697 + Missense_Mutation SNP G G A TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr11:1016697G>A ENST00000421673.2 - 31 6154 c.6104C>T c.(6103-6105)tCt>tTt p.S2035F NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 2035 Thr-rich. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GATGGAGGCAGAAGTGGCCAT 0.567000 39 353 0 0 1 0 0 RHOV 171177 broad.mit.edu 37 15 41165441 41165441 + Missense_Mutation SNP C C T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr15:41165441C>T ENST00000220507.4 - 3 675 c.526G>A c.(526-528)Gag>Aag p.E176K NM_133639.3 NP_598378.3 Q96L33 RHOV_HUMAN ras homolog family member V 176 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|endosome membrane|plasma membrane GTP binding|metal ion binding central_nervous_system(1)|large_intestine(1) 2 all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163) CGGATCTTCTCGGCCAGACCC 0.592000 13 125 0 0 1 0 0 KIR3DL2 3812 broad.mit.edu 37 19 55378172 55378172 + Missense_Mutation SNP G G C TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr19:55378172G>C ENST00000326321.3 + 9 1387 c.1354G>C c.(1354-1356)Gag>Cag p.E452Q KIR3DL2_ENST00000270442.5_Missense_Mutation_p.E435Q|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.E452Q NM_006737.3 NP_006728.2 P43630 KI3L2_HUMAN killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 452 cellular defense response|regulation of immune response integral to plasma membrane receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 23 GBM - Glioblastoma multiforme(193;0.0192) GTCAGGTCTTGAGGGGGTTTT 0.522000 31 194 0 0 1 0 0 TPD52L2 7165 broad.mit.edu 37 20 62521284 62521284 + Missense_Mutation SNP C C T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr20:62521284C>T ENST00000217121.5 + 9 748 c.676C>T c.(676-678)Ccc>Tcc p.P226S TPD52L2_ENST00000369927.4_Missense_Mutation_p.P160S|TPD52L2_ENST00000352482.4_Missense_Mutation_p.P217S|TPD52L2_ENST00000348257.5_Missense_Mutation_p.P183S|TPD52L2_ENST00000358548.4_Missense_Mutation_p.P197S|TPD52L2_ENST00000346249.4_Missense_Mutation_p.P203S|TPD52L2_ENST00000351424.4_Missense_Mutation_p.P206S NM_199360.2 NP_955392.1 O43399 TPD54_HUMAN tumor protein D52-like 2 203 regulation of cell proliferation perinuclear region of cytoplasm protein binding|protein homodimerization activity endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 8 all_cancers(38;1.3e-12)|all_epithelial(29;2.23e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09) CCTGTCGGATCCCGCACCTTT 0.592000 6 42 0 0 1 0 0 PES1 23481 broad.mit.edu 37 22 30975207 30975207 + Missense_Mutation SNP C C T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr22:30975207C>T ENST00000402281.1 - 15 2012 c.1021G>A c.(1021-1023)Gag>Aag p.E341K PES1_ENST00000354694.6_Missense_Mutation_p.E480K|PES1_ENST00000402284.3_Missense_Mutation_p.E463K|PES1_ENST00000405677.1_Missense_Mutation_p.E341K|PES1_ENST00000335214.6_Missense_Mutation_p.E475K O00541 PESC_HUMAN pescadillo ribosomal biogenesis factor 1 480 BRCT.|Sufficient for interaction with MAP1B (By similarity). cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor protein binding breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 29 tcttcctcctcctcctcattt 0.537000 8 31 0 0 1 0 0 ADAMTS5 11096 broad.mit.edu 37 21 28338337 28338337 + Missense_Mutation SNP C C T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr21:28338337C>T ENST00000284987.5 - 1 495 c.374G>A c.(373-375)cGc>cAc p.R125H NM_007038.3 NP_008969.2 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 5 125 proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 72 GCTCCGGTGGCGCCAGGGCGC 0.672000 6 38 0 0 1 0 0 GTDC1 79712 broad.mit.edu 37 2 144704677 144704677 + Missense_Mutation SNP G G T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr2:144704677G>T ENST00000409214.1 - 12 1597 c.1319C>A c.(1318-1320)gCa>gAa p.A440E AC016910.1_ENST00000422799.1_RNA|GTDC1_ENST00000392869.1_Missense_Mutation_p.A440E|GTDC1_ENST00000392867.3_Missense_Mutation_p.A355E|GTDC1_ENST00000463875.2_Missense_Mutation_p.A311E|GTDC1_ENST00000542155.1_Missense_Mutation_p.A440E|GTDC1_ENST00000409298.1_Missense_Mutation_p.A322E|GTDC1_ENST00000241391.5_Missense_Mutation_p.A355E|GTDC1_ENST00000344850.4_Missense_Mutation_p.A440E NM_001006636.3 NP_001006637.1 Q4AE62 GTDC1_HUMAN glycosyltransferase-like domain containing 1 440 biosynthetic process transferase activity, transferring glycosyl groups central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1) 25 BRCA - Breast invasive adenocarcinoma(221;0.0914) ATGTAGGGCTGCCCAAGAAAA 0.448000 8 43 0.00307968 0.00314497 1 1 0 UTP11L 51118 broad.mit.edu 37 1 38484767 38484767 + Missense_Mutation SNP G G A TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr1:38484767G>A ENST00000373014.4 + 5 440 c.379G>A c.(379-381)Gat>Aat p.D127N UTP11L_ENST00000488453.1_3'UTR|UTP11L_ENST00000537711.1_Missense_Mutation_p.D127N NM_016037.3 NP_057121.2 Q9Y3A2 UTP11_HUMAN UTP11-like, U3 small nucleolar ribonucleoprotein, (yeast) 127 induction of apoptosis|nerve growth factor receptor signaling pathway|nervous system development|rRNA processing cytoplasm|extracellular space|nucleolus|small-subunit processome protein binding NS(1)|cervix(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 5 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) CCATCTGCTGGATTTCCAGGG 0.373000 6 66 0 0 1 0 0 GFM2 84340 broad.mit.edu 37 5 74035904 74035904 + Missense_Mutation SNP C C G TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr5:74035904C>G ENST00000296805.3 - 12 1446 c.989G>C c.(988-990)gGa>gCa p.G330A GFM2_ENST00000509430.1_Missense_Mutation_p.G330A|GFM2_ENST00000427854.2_Missense_Mutation_p.G330A|GFM2_ENST00000345239.2_Missense_Mutation_p.G330A NM_032380.3 NP_115756.2 Q969S9 RRF2M_HUMAN G elongation factor, mitochondrial 2 330 mitochondrial translation|ribosome disassembly mitochondrion GTP binding|GTPase activity breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1) 14 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231) OV - Ovarian serous cystadenocarcinoma(47;1.86e-56) CAGGGCACTTCCACAAAGCAC 0.418000 5 47 0 0 1 0 0 TBC1D10A 83874 broad.mit.edu 37 22 30690932 30690932 + Nonsense_Mutation SNP C C A TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr22:30690932C>A ENST00000215790.7 - 5 801 c.637G>T c.(637-639)Gag>Tag p.E213* TBC1D10A_ENST00000403362.1_Nonsense_Mutation_p.E125*|TBC1D10A_ENST00000403477.3_Nonsense_Mutation_p.E220*|RP1-130H16.18_ENST00000447976.1_Nonsense_Mutation_p.E87* NM_031937.2 NP_114143.1 Q9BXI6 TB10A_HUMAN TBC1 domain family, member 10A 213 Rab-GAP TBC. intracellular|microvillus guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 GGTGGTACCTCAGCAGGCATA 0.657000 14 67 1.3612e-06 1.50723e-06 1 1 0 SBNO2 22904 broad.mit.edu 37 19 1122254 1122254 + Nonsense_Mutation SNP C C A TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr19:1122254C>A ENST00000361757.3 - 11 1270 c.1033G>T c.(1033-1035)Gag>Tag p.E345* SBNO2_ENST00000587024.1_Nonsense_Mutation_p.E345*|SBNO2_ENST00000438103.2_Nonsense_Mutation_p.E288* NM_014963.2 NP_055778.2 Q9Y2G9 SBNO2_HUMAN strawberry notch homolog 2 (Drosophila) 345 macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGGACGCCCTCTGAGGTAGTG 0.647000 3 10 0.00024832 0.000259078 1 1 0 ANGPT2 285 broad.mit.edu 37 8 6372251 6372251 + Nonsense_Mutation SNP G G A TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr8:6372251G>A ENST00000325203.5 - 6 1453 c.979C>T c.(979-981)Cga>Tga p.R327* ANGPT2_ENST00000338312.6_Nonsense_Mutation_p.R275*|ANGPT2_ENST00000523120.1_Nonsense_Mutation_p.R326*|ANGPT2_ENST00000415216.1_Nonsense_Mutation_p.R326*|MCPH1_ENST00000344683.5_Intron O15123 ANGP2_HUMAN angiopoietin 2 327 Fibrinogen C-terminal. angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway extracellular space metal ion binding|receptor tyrosine kinase binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 Hepatocellular(245;0.0663) Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226) TCCTCACGTCGCTGAATAATT 0.478000 38 192 0 0 1 0 0 GBA2 57704 broad.mit.edu 37 9 35737723 35737723 + Missense_Mutation SNP G G C TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr9:35737723G>C ENST00000378088.1 - 2 812 c.430C>G c.(430-432)Ctc>Gtc p.L144V GBA2_ENST00000545786.1_Intron|GBA2_ENST00000378094.4_Intron|GBA2_ENST00000378103.3_Intron Q9HCG7 GBA2_HUMAN glucosidase, beta (bile acid) 2 0 bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum beta-glucosidase activity|glucosylceramidase activity NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3) 21 all_epithelial(49;0.167) Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) ATGGTGGAGAGATGGGAAAAG 0.493000 7 55 0 0 1 0 0 CCR3 1232 broad.mit.edu 37 3 46307450 46307450 + Missense_Mutation SNP C C G TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr3:46307450C>G ENST00000357422.2 + 4 1344 c.801C>G c.(799-801)atC>atG p.I267M CCR3_ENST00000541018.1_Missense_Mutation_p.I267M|CCR3_ENST00000545097.1_Missense_Mutation_p.I288M|CCR3_ENST00000395940.2_Missense_Mutation_p.I267M|CCR3_ENST00000395942.2_Missense_Mutation_p.I267M P51677 CCR3_HUMAN chemokine (C-C motif) receptor 3 267 cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis integral to plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216) ATCAATCCATCTTATTTGGAA 0.488000 22 65 0 0 1 0 0 RUNX2 860 broad.mit.edu 37 6 45405688 45405688 + Missense_Mutation SNP G G C TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr6:45405688G>C ENST00000371438.1 + 4 943 c.585G>C c.(583-585)aaG>aaC p.K195N RUNX2_ENST00000576263.1_Missense_Mutation_p.K195N|RUNX2_ENST00000352853.5_Missense_Mutation_p.K263N|RUNX2_ENST00000371432.3_Missense_Mutation_p.K181N|RUNX2_ENST00000371436.6_Missense_Mutation_p.K195N|RUNX2_ENST00000541979.1_Missense_Mutation_p.K263N|RUNX2_ENST00000359524.5_Missense_Mutation_p.K181N|RUNX2_ENST00000465038.2_Missense_Mutation_p.K195N NM_001024630.3 NP_001019801.3 Q13950 RUNX2_HUMAN runt-related transcription factor 2 195 Runt. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 CTGCAGGCAAGAGTTTCACCT 0.388000 20 133 0 0 1 0 0 IQCG 84223 broad.mit.edu 37 3 197665571 197665571 + Silent SNP C C T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr3:197665571C>T ENST00000265239.6 - 5 787 c.363G>A c.(361-363)ccG>ccA p.P121P IQCG_ENST00000480302.1_5'UTR|IQCG_ENST00000455191.1_Silent_p.P121P|IQCG_ENST00000453254.1_Silent_p.P121P NM_032263.3 NP_115639.1 Q9H095 IQCG_HUMAN IQ motif containing G 121 autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.149) CAGTTATTAACGGACTGGGTA 0.388000 80 281 0 0 1 0 0 AMDHD2 51005 broad.mit.edu 37 16 2578096 2578096 + Missense_Mutation SNP G G T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr16:2578096G>T ENST00000302956.4 + 6 758 c.664G>T c.(664-666)Gct>Tct p.A222S AMDHD2_ENST00000293971.6_Missense_Mutation_p.A222S|AMDHD2_ENST00000413459.3_Missense_Mutation_p.A222S|CEMP1_ENST00000382350.1_Intron|AMDHD2_ENST00000565570.1_Intron Q9Y303 NAGA_HUMAN amidohydrolase domain containing 2 222 N-acetylglucosamine metabolic process N-acetylglucosamine-6-phosphate deacetylase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2) 19 GGCAGAGGATGCTGTGTGGAG 0.687000 13 104 1.36491e-13 1.57155e-13 1 1 0 ASPA 443 broad.mit.edu 37 17 3392544 3392544 + Missense_Mutation SNP C C A TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr17:3392544C>A ENST00000263080.2 + 4 700 c.542C>A c.(541-543)cCt>cAt p.P181H SPATA22_ENST00000541913.1_Intron|ASPA_ENST00000456349.2_Missense_Mutation_p.P181H NM_000049.2 NP_000040.1 P45381 ACY2_HUMAN aspartoacylase 181 P -> T (in CAND). aspartate catabolic process cytoplasm|nucleus aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1) 17 L-Aspartic Acid(DB00128) GAAGTTGGTCCTCAGCCTCAA 0.308000 11 95 0.000673444 0.00069509 1 1 0 ARPC1B 10095 broad.mit.edu 37 7 98988876 98988876 + Splice_Site SNP G G A TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr7:98988876G>A ENST00000451682.1 + 9 1092 c.783_splice c.e9+1 p.A261_splice ARPC1B_ENST00000252725.5_Splice_Site_p.A261_splice O15143 ARC1B_HUMAN actin related protein 2/3 complex, subunit 1B, 41kDa 261 cellular component movement|regulation of actin filament polymerization Arp2/3 protein complex|cytoplasm actin binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1) 11 all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) TGGTGGCAGCGGTGAGGAATA 0.612000 6 17 0 0 1 0 0 LATS2 26524 broad.mit.edu 37 13 21549414 21549414 + Silent SNP G G A TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr13:21549414G>A ENST00000382592.4 - 8 3267 c.2862C>T c.(2860-2862)tcC>tcT p.S954S LATS2_ENST00000542899.1_Silent_p.S954S NM_014572.2 NP_055387.2 Q9NRM7 LATS2_HUMAN large tumor suppressor kinase 2 954 Protein kinase. cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity microtubule organizing center|nucleus|spindle pole ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2) 45 all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104) GGTGGTCTGCGGAGCAGCACA 0.617000 6 45 0 0 1 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102469281 102469281 + Missense_Mutation SNP G G C TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr14:102469281G>C ENST00000360184.4 + 23 5026 c.4862G>C c.(4861-4863)aGa>aCa p.R1621T NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 1621 Stem (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 TATCTGGAAAGAGAGCGGTCA 0.453000 10 46 0 0 1 0 0 MOK 5891 broad.mit.edu 37 14 102732227 102732227 + Silent SNP G G T rs141604419 TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr14:102732227G>T ENST00000361847.2 - 3 376 c.145C>A c.(145-147)Cga>Aga p.R49R MOK_ENST00000193029.6_5'UTR|MOK_ENST00000524214.1_Intron|MOK_ENST00000522874.1_Silent_p.R49R NM_014226.1 NP_055041.1 Q9UQ07 MOK_HUMAN MOK protein kinase 49 Protein kinase. signal transduction Golgi apparatus ATP binding|cyclin-dependent protein kinase activity|protein binding TGGATCTCTCGTAGGTTGTTG 0.378000 8 52 0.000274275 0.000285128 1 1 0 MAP3K12 7786 broad.mit.edu 37 12 53876704 53876704 + Missense_Mutation SNP C C T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr12:53876704C>T ENST00000267079.2 - 12 2009 c.1784G>A c.(1783-1785)cGt>cAt p.R595H MAP3K12_ENST00000547035.1_Missense_Mutation_p.R628H|MAP3K12_ENST00000547488.1_Missense_Mutation_p.R628H NM_001193511.1|NM_006301.3 NP_001180440.1|NP_006292.3 Q12852 M3K12_HUMAN mitogen-activated protein kinase kinase kinase 12 595 histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation cytosol|membrane fraction|plasma membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 37 ATGAAGCCCACGGAGGGCGGG 0.672000 9 59 0 0 1 0 0 CPAMD8 27151 broad.mit.edu 37 19 17115116 17115116 + Missense_Mutation SNP C C T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr19:17115116C>T ENST00000443236.1 - 8 812 c.781G>A c.(781-783)Gcg>Acg p.A261T CPAMD8_ENST00000388925.4_Missense_Mutation_p.A214T NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 214 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 TTGTTGTACGCGTGGCCTTGC 0.463000 10 66 0 0 1 0 0 PDE7B 27115 broad.mit.edu 37 6 136470273 136470273 + Missense_Mutation SNP G G A TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr6:136470273G>A ENST00000308191.6 + 5 670 c.367G>A c.(367-369)Gat>Aat p.D123N RP13-143G15.4_ENST00000585946.1_RNA|RP13-143G15.4_ENST00000417643.1_RNA|RP13-143G15.4_ENST00000591521.1_RNA NM_018945.3 NP_061818.1 Q9NP56 PDE7B_HUMAN phosphodiesterase 7B 123 signal transduction|synaptic transmission cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Colorectal(23;0.24) OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147) Dyphylline(DB00651)|Ketotifen(DB00920) TTTCTTGTTTGATCGCTTGAC 0.333000 9 41 0 0 1 0 0 LRRC8A 56262 broad.mit.edu 37 9 131670253 131670253 + Silent SNP C C T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr9:131670253C>T ENST00000259324.5 + 3 1333 c.810C>T c.(808-810)atC>atT p.I270I LRRC8A_ENST00000372599.3_Silent_p.I270I|LRRC8A_ENST00000372600.4_Silent_p.I270I NM_001127244.1 NP_001120716.1 Q8IWT6 LRC8A_HUMAN leucine rich repeat containing 8 family, member A 270 pre-B cell differentiation integral to membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3) 28 AGACCATCATCAAGGTGATCA 0.542000 22 110 0 0 1 0 0 NR0B1 190 broad.mit.edu 37 X 30326446 30326446 + Silent SNP C C A TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chrX:30326446C>A ENST00000378970.4 - 1 1269 c.1035G>T c.(1033-1035)ccG>ccT p.P345P NR0B1_ENST00000378963.1_Silent_p.P50P|NR0B1_ENST00000453287.1_Silent_p.P345P NM_000475.4 NP_000466.2 P51843 NR0B1_HUMAN nuclear receptor subfamily 0, group B, member 1 345 Ligand-binding (By similarity). adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2) 24 Dexamethasone(DB01234)|Tretinoin(DB00755) CCTCCGCCGGCGGTGCCAAAT 0.637000 OREG0019719 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 16 0.000978159 0.00100601 1 1 0 P2RY2 5029 broad.mit.edu 37 11 72945651 72945651 + Silent SNP C C T rs147817701 byFrequency TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr11:72945651C>T ENST00000311131.2 + 3 914 c.447C>T c.(445-447)taC>taT p.Y149Y P2RY2_ENST00000393597.2_Silent_p.Y149Y|P2RY2_ENST00000393596.2_Silent_p.Y149Y NM_002564.2|NM_176072.1 NP_002555.2|NP_788086.1 P41231 P2RY2_HUMAN purinergic receptor P2Y, G-protein coupled, 2 149 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2) 25 Suramin(DB04786) GGGCCCGCTACGCTCGCCGGG 0.697000 17 57 0 0 1 0 0 PTENP1 11191 broad.mit.edu 37 9 33676094 33676094 + RNA SNP C C G rs7853346 by1000genomes TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr9:33676094C>G ENST00000532280.1 - 0 1403 NR_023917.1 CTATAATCCACATGATTCTTT 0.423000 5 110 0 0 1 0 0 ZDHHC15 158866 broad.mit.edu 37 X 74670646 74670646 + Nonsense_Mutation SNP C C A TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chrX:74670646C>A ENST00000541184.1 - 3 820 c.343G>T c.(343-345)Gga>Tga p.G115* ZDHHC15_ENST00000373367.3_Nonsense_Mutation_p.G124*|ZDHHC15_ENST00000373361.3_Nonsense_Mutation_p.G124* NM_001146256.1 NP_001139728.1 Q96MV8 ZDH15_HUMAN zinc finger, DHHC-type containing 15 124 integral to membrane zinc ion binding central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2) 26 CCTCCACTTCCAGTTCTTGTG 0.438000 14 53 6.49762e-13 7.42218e-13 1 1 0 MRPL4 51073 broad.mit.edu 37 19 10363274 10363274 + Missense_Mutation SNP C C G TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr19:10363274C>G ENST00000393733.2 + 3 199 c.172C>G c.(172-174)Cat>Gat p.H58D MRPL4_ENST00000590669.1_Missense_Mutation_p.H58D|MRPL4_ENST00000307422.5_Missense_Mutation_p.H58D|MRPL4_ENST00000253099.6_Missense_Mutation_p.H58D|MRPL4_ENST00000588502.1_Missense_Mutation_p.H57D|CTD-2369P2.5_ENST00000592893.1_RNA Q9BYD3 RM04_HUMAN mitochondrial ribosomal protein L4 58 translation mitochondrion|ribosome structural constituent of ribosome p.H58D(1) breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 11 Renal(1328;0.0112) OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06) Lung(535;0.00705) GGTACCCACTCATCGACGCCC 0.677000 7 65 0 0 1 0 0 ETV5 2119 broad.mit.edu 37 3 185797649 185797649 + Missense_Mutation SNP T T C TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr3:185797649T>C ENST00000306376.5 - 7 853 c.607A>G c.(607-609)Atg>Gtg p.M203V ETV5_ENST00000537818.1_Missense_Mutation_p.M245V|ETV5-AS1_ENST00000453370.1_RNA|ETV5_ENST00000434744.1_Missense_Mutation_p.M203V NM_004454.2 NP_004445.1 P41161 ETV5_HUMAN ets variant 5 203 cellular response to oxidative stress nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 28 all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.62e-24) ATCTTTGGCATCTGCAGGGGC 0.562000 T """TMPRSS2, SCL45A3""" Prostate 15 100 0 0 1 0 0 SAMHD1 25939 broad.mit.edu 37 20 35559199 35559199 + Missense_Mutation SNP G G C TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr20:35559199G>C ENST00000262878.4 - 5 788 c.589C>G c.(589-591)Ctc>Gtc p.L197V SAMHD1_ENST00000373694.5_5'UTR NM_015474.3 NP_056289.2 Q9Y3Z3 SAMH1_HUMAN SAM domain and HD domain 1 197 HD. defense response to virus|innate immune response|regulation of innate immune response nucleus metal ion binding|phosphoric diester hydrolase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1) 20 Myeloproliferative disorder(115;0.00878) TGAACACAGAGAACATCTCGT 0.418000 17 120 0 0 1 0 0 ATP8A2 51761 broad.mit.edu 37 13 26273442 26273442 + Missense_Mutation SNP C C A TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr13:26273442C>A ENST00000381655.2 + 25 2485 c.2343C>A c.(2341-2343)ttC>ttA p.F781L ATP8A2_ENST00000255283.8_Missense_Mutation_p.F741L|ATP8A2_ENST00000491840.1_3'UTR NM_016529.4 NP_057613.4 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter, class I, type 8A, member 2 741 ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1) 72 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) GGAGGAGTTTCCTGGATTTGG 0.542000 5 35 0.000602214 0.000623799 1 1 0 KRTAP13-2 337959 broad.mit.edu 37 21 31744353 31744353 + Missense_Mutation SNP C C A TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr21:31744353C>A ENST00000399889.2 - 1 204 c.179G>T c.(178-180)tGc>tTc p.C60F NM_181621.3 NP_853652.1 Q52LG2 KR132_HUMAN keratin associated protein 13-2 60 5 X 10 AA approximate repeats. intermediate filament endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 21 GGGCTCCCAGCAGATCTCCTG 0.607000 12 87 3.07112e-06 3.37473e-06 1 1 0 NDUFV3 4731 broad.mit.edu 37 21 44317044 44317044 + Missense_Mutation SNP T T A TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr21:44317044T>A ENST00000354250.2 + 2 125 c.56T>A c.(55-57)cTc>cAc p.L19H NDUFV3_ENST00000460259.1_3'UTR|NDUFV3_ENST00000340344.3_Missense_Mutation_p.L19H NM_021075.3 NP_066553.3 P56181 NDUV3_HUMAN NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa 19 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I|nucleus NADH dehydrogenase (ubiquinone) activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1) 10 STAD - Stomach adenocarcinoma(101;0.0606) NADH(DB00157) CAGACTATGCTCCAGGAAGCC 0.373000 16 94 0 0 1 0 0 CLTCL1 8218 broad.mit.edu 37 22 19196585 19196585 + Missense_Mutation SNP C C G TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr22:19196585C>G ENST00000263200.10 - 21 3361 c.3289G>C c.(3289-3291)Gag>Cag p.E1097Q CLTCL1_ENST00000353891.5_Missense_Mutation_p.E1097Q|CLTCL1_ENST00000427926.1_Missense_Mutation_p.E1097Q NM_007098.3 NP_009029.3 P53675 CLH2_HUMAN clathrin, heavy chain-like 1 1097 Heavy chain arm.|Proximal segment. anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network protein binding|signal transducer activity|structural molecule activity breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Colorectal(54;0.0993) TCCGCAAACTCATATGCCCGG 0.502000 T ? ALCL 3 11 0 0 1 0 0 NCF2 4688 broad.mit.edu 37 1 183556034 183556034 + Missense_Mutation SNP C C T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr1:183556034C>T ENST00000413720.1 - 2 527 c.253G>A c.(253-255)Gag>Aag p.E85K NCF2_ENST00000367536.1_Missense_Mutation_p.E85K|NCF2_ENST00000418089.1_Missense_Mutation_p.E85K|NCF2_ENST00000367535.3_Missense_Mutation_p.E85K NM_001190794.1 NP_001177723.1 P19878 NCF2_HUMAN neutrophil cytosolic factor 2 85 cellular defense response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex|nucleolus electron carrier activity|protein C-terminus binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 ACTTACTTCTCTGTCTGGTAG 0.507000 6 87 0 0 1 0 0 PIPOX 51268 broad.mit.edu 37 17 27380585 27380585 + Missense_Mutation SNP G G A rs76753427 byFrequency TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr17:27380585G>A ENST00000323372.4 + 4 958 c.632G>A c.(631-633)cGt>cAt p.R211H PIPOX_ENST00000583215.1_3'UTR NM_016518.2 NP_057602.2 Q9P0Z9 SOX_HUMAN pipecolic acid oxidase 211 tetrahydrofolate metabolic process peroxisome L-pipecolate oxidase activity|sarcosine oxidase activity endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 10 Lung NSC(42;0.015) Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) Glycine(DB00145) CAGCTCCTCCGTCCCCTGGGC 0.542000 10 58 0 0 1 0 0 ATRNL1 26033 broad.mit.edu 37 10 116881500 116881500 + Missense_Mutation SNP G G T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr10:116881500G>T ENST00000355044.3 + 3 541 c.415G>T c.(415-417)Gct>Tct p.A139S ATRNL1_ENST00000527407.1_Missense_Mutation_p.A139S|ATRNL1_ENST00000529665.1_3'UTR NM_207303.2 NP_997186.1 Q5VV63 ATRN1_HUMAN attractin-like 1 139 CUB. integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) CAATCATTTTGCTACAGAATG 0.274000 23 103 1.66031e-10 1.87433e-10 1 1 0 ASPH 444 broad.mit.edu 37 8 62496531 62496531 + Missense_Mutation SNP A A T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr8:62496531A>T ENST00000541428.1 - 15 1107 c.947T>A c.(946-948)cTt>cAt p.L316H ASPH_ENST00000523897.1_5'UTR|ASPH_ENST00000379454.4_Missense_Mutation_p.L345H NM_001164750.1 NP_001158222.1 Q12797 ASPH_HUMAN aspartate beta-hydroxylase 345 muscle contraction integral to endoplasmic reticulum membrane calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 Lung SC(2;0.153) Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101) L-Aspartic Acid(DB00128)|Succinic acid(DB00139) TGCAGCATCAAGTTCAGCTTT 0.269000 9 35 0 0 1 0 0 ACTB 60 broad.mit.edu 37 7 5567464 5567464 + Missense_Mutation SNP G G C TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr7:5567464G>C ENST00000331789.5 - 6 1234 c.1043C>G c.(1042-1044)tCg>tGg p.S348W ACTB_ENST00000464611.1_5'UTR NM_001101.3 NP_001092.1 P60709 ACTB_HUMAN actin, beta 348 'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2) 8 Ovarian(82;0.0606) UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37) GGTGGACAGCGAGGCCAGGAT 0.587000 19 132 0 0 1 0 0 ABCC1 4363 broad.mit.edu 37 16 16146637 16146637 + Silent SNP C C A TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr16:16146637C>A ENST00000399408.2 + 11 1612 c.1437C>A c.(1435-1437)gtC>gtA p.V479V ABCC1_ENST00000346370.5_Silent_p.V479V|ABCC1_ENST00000345148.5_Silent_p.V479V|ABCC1_ENST00000351154.5_Silent_p.V479V|ABCC1_ENST00000399410.3_Silent_p.V479V|ABCC1_ENST00000349029.5_Silent_p.V479V P33527 MRP1_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 1 479 ABC transmembrane type-1 1. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3) 56 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) TGGTGCCCGTCAATGCTGTGA 0.572000 7 52 0.000157383 0.000164796 1 1 0 URI1 8725 broad.mit.edu 37 19 30502098 30502098 + Missense_Mutation SNP C C G rs149845017 TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr19:30502098C>G ENST00000392271.1 + 9 1430 c.905C>G c.(904-906)tCt>tGt p.S302C URI1_ENST00000360605.4_Missense_Mutation_p.S360C|URI1_ENST00000542441.2_Missense_Mutation_p.S378C|URI1_ENST00000312051.6_Missense_Mutation_p.S338C NM_003796.3 NP_003787.2 O94763 RMP_HUMAN URI1, prefoldin-like chaperone 378 Poly-Asp. protein folding|regulation of transcription from RNA polymerase II promoter|response to virus DNA-directed RNA polymerase II, core complex|prefoldin complex transcription corepressor activity|unfolded protein binding AGTGGCCACTCTGCCCAGGAG 0.512000 12 104 0 0 1 0 0 PLAG1 5324 broad.mit.edu 37 8 57079803 57079803 + Missense_Mutation SNP G G T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr8:57079803G>T ENST00000316981.3 - 5 981 c.502C>A c.(502-504)Cac>Aac p.H168N PLAG1_ENST00000429357.2_Missense_Mutation_p.H168N|PLAG1_ENST00000423799.2_Missense_Mutation_p.H86N NM_001114634.1|NM_002655.2 NP_001108106.1|NP_002646.2 Q6DJT9 PLAG1_HUMAN pleiomorphic adenoma gene 1 168 Decreased nuclear import with localization in the nucleus but also in the cytoplasm. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3) breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125) Epithelial(17;0.00179)|all cancers(17;0.0125) GATTTAAGGTGCTCCAGAAGC 0.488000 T """TCEA1, LIFR, CTNNB1, CHCHD7""" salivary adenoma 6 30 3.59834e-05 3.82323e-05 1 1 0 C2orf57 165100 broad.mit.edu 37 2 232458247 232458247 + Missense_Mutation SNP G G C TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr2:232458247G>C ENST00000313965.2 + 1 673 c.585G>C c.(583-585)gaG>gaC p.E195D NM_152614.2 NP_689827.2 Q53QW1 CB057_HUMAN chromosome 2 open reading frame 57 195 endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2) 19 Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014) CTGCTGAGGAGAAAGCTGAGC 0.582000 15 75 0 0 1 0 0 NOTCH1 4851 broad.mit.edu 37 9 139412235 139412235 + Silent SNP C C T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr9:139412235C>T ENST00000277541.6 - 8 1485 c.1410G>A c.(1408-1410)caG>caA p.Q470Q NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 470 EGF-like 12; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) ACTCCCCAATCTGGTCCAGGC 0.682000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 5 66 0 0 1 0 0 ADH1C 126 broad.mit.edu 37 4 100261040 100261041 + RNA INS - - A rs138827617 by1000genomes TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr4:100261040_100261041insA ENST00000515683.1 - 0 1316 NM_000669.3 NP_000660.1 P00326 ADH1G_HUMAN alcohol dehydrogenase 1C (class I), gamma polypeptide ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|zinc ion binding OV - Ovarian serous cystadenocarcinoma(123;1.08e-07) Fomepizole(DB01213)|NADH(DB00157) AGTGCTTTCACAAAAAAAATCA 0.327 4 8 --- --- --- --- BTNL8 79908 broad.mit.edu 37 5 180374749 180374750 + Frame_Shift_Ins INS - - A TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr5:180374749_180374750insA ENST00000231229.4 + 4 1145_1146 c.911_912insA c.(910-912)caafs p.Q304fs BTNL8_ENST00000511704.1_Intron|BTNL8_ENST00000400707.3_Intron|BTNL8_ENST00000508408.1_Frame_Shift_Ins_p.Q304fs|BTNL8_ENST00000533815.2_Intron|BTNL8_ENST00000340184.4_Intron|BTNL8_ENST00000505126.1_Intron NM_001159708.1|NM_024850.2 NP_001153180.1|NP_079126.1 Q6UX41 BTNL8_HUMAN butyrophilin-like 8 165 B30.2/SPRY. integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGCCCAGGCCCAAAAAAGTAAT 0.480 35 216 --- --- --- --- PCLO 27445 broad.mit.edu 37 7 82584850 82584851 + Frame_Shift_Ins INS - - T TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr7:82584850_82584851insT ENST00000423517.2 - 5 5755_5756 c.5418_5419insA c.(5416-5421)aacaaafs p.NK1806fs PCLO_ENST00000333891.8_Frame_Shift_Ins_p.NK1806fs NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1737 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TCTTTCTTTGATTTTTTACTAG 0.396 18 116 --- --- --- --- STOML2 30968 broad.mit.edu 37 9 35101723 35101724 + Frame_Shift_Del DEL AG AG - TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr9:35101723_35101724delAG ENST00000356493.5 - 5 489_490 c.427_428delCT c.(427-429)gfs p.L143fs STOML2_ENST00000452248.2_Frame_Shift_Del_p.L143fs NM_013442.1 NP_038470.1 Q9UJZ1 STML2_HUMAN stomatin (EPB72)-like 2 143 cytoskeleton receptor binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1) 16 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) GACTTTGTCCAGAGAGAGTTTG 0.505 39 206 --- --- --- --- KMT2A 4297 broad.mit.edu 37 11 118369144 118369158 + In_Frame_Del DEL CAGCAACTATCACTT CAGCAACTATCACTT - TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr11:118369144_118369158delCAGCAACTATCACTT ENST00000534358.1 + 22 5885_5899 c.5862_5876delCAGCAACTATCACTT c.(5860-5877)acc>ac p.TSNYHF1954del KMT2A_ENST00000354520.4_In_Frame_Del_p.TSNYHF1913del|KMT2A_ENST00000389506.5_In_Frame_Del_p.TSNYHF1951del NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A CATCCTGCACCAGCAACTATCACTTCATGTGTTCC 0.437 27 303 --- --- --- --- GPR135 64582 broad.mit.edu 37 14 59931664 59931682 + Frame_Shift_Del DEL GCCGCCTCCGGGCCTAGCG GCCGCCTCCGGGCCTAGCG - TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr14:59931664_59931682delGCCGCCTCCGGGCCTAGCG ENST00000395116.1 - 1 378_396 c.263_281delCGCTAGGCCCGGAGGCGGC c.(262-282)cgfs p.PLGPEAA88fs NM_022571.5 NP_072093.2 Q8IZ08 GP135_HUMAN G protein-coupled receptor 135 88 integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(108;0.134) CAGCAGcggcgccgcctccgggcctagcggccgcctcac 0.758 3 5 --- --- --- --- ZFHX3 463 broad.mit.edu 37 16 72821609 72821610 + In_Frame_Ins INS - - CCG TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr16:72821609_72821610insCCG ENST00000268489.5 - 10 11237_11238 c.10565_10566insCGG c.(10564-10566)ggg>gCGGgg p.3521_3522insA AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_In_Frame_Ins_p.2607_2608insA NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3521 Poly-Gly. muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) cgccgccgccgccgccgccacc 0.698 9 49 --- --- --- --- LOC100131347 100131347 broad.mit.edu 37 17 37213527 37213528 + RNA INS - - TTG rs71141752 TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr17:37213527_37213528insTTG ENST00000583447.1 + 0 141 NR_036551.1 GAAGGACTCttttttttttttt 0.550 3 4 --- --- --- --- CTC-260E6.6 0 broad.mit.edu 37 19 20262849 20262850 + RNA INS - - T rs142097873 TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr19:20262849_20262850insT ENST00000593655.1 - 0 337 CTC-260E6.6_ENST00000586657.1_RNA TTTCttttttcttttttttttt 0.470 5 4 --- --- --- --- ZNF880 400713 broad.mit.edu 37 19 52877717 52877717 + Frame_Shift_Del DEL T T - rs77187934 TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr19:52877717delT ENST00000597976.1 + 3 325 c.305delT c.(304-306)atfs p.I102fs ZNF880_ENST00000600321.1_Intron|ZNF880_ENST00000422689.2_Intron|ZNF880_ENST00000344085.5_Intron|ZNF880_ENST00000424032.2_Intron Q6PDB4 ZN880_HUMAN zinc finger protein 880 0 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1) 10 GGCCCCATAAttttttttttt 0.473 4 6 --- --- --- --- MCM8 84515 broad.mit.edu 37 20 5974999 5974999 + Frame_Shift_Del DEL A A - TCGA-CQ-5333-01A-01D-2394-08 TCGA-CQ-5333-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e776b7da-dc5f-41f4-88c6-45748de4bfd4 8d9ea53d-9752-4f6b-baaa-afdef0442db3 g.chr20:5974999delA ENST00000378896.3 + 19 2862 c.2485delA c.(2485-2487)aafs p.K830fs MCM8_ENST00000378886.2_Frame_Shift_Del_p.K870fs|MCM8_ENST00000265187.4_Frame_Shift_Del_p.K814fs|MCM8_ENST00000378883.1_Frame_Shift_Del_p.K783fs NM_032485.4|NM_182802.1 NP_115874.3|NP_877954.1 Q9UJA3 MCM8_HUMAN minichromosome maintenance complex component 8 830 cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|nucleoside-triphosphatase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 23 TTACCTCTTGAAAAAAGGCCC 0.378 14 52 --- --- --- ---