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 NR1I3 9970 broad.mit.edu 37 1 161201248 161201248 + Missense_Mutation SNP C C T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr1:161201248C>T ENST00000367983.4 - 6 859 c.565G>A c.(565-567)Gac>Aac p.D189N NR1I3_ENST00000442691.2_Missense_Mutation_p.D189N|NR1I3_ENST00000505005.1_Missense_Mutation_p.D189N|NR1I3_ENST00000506209.1_Missense_Mutation_p.D160N|NR1I3_ENST00000515621.1_Missense_Mutation_p.D114N|NR1I3_ENST00000504010.1_Missense_Mutation_p.D160N|NR1I3_ENST00000367984.4_Missense_Mutation_p.D189N|NR1I3_ENST00000511944.1_Silent_p.K85K|NR1I3_ENST00000512372.1_Missense_Mutation_p.D160N|NR1I3_ENST00000367979.2_Missense_Mutation_p.D189N|NR1I3_ENST00000367980.2_Missense_Mutation_p.D189N|NR1I3_ENST00000508387.1_Silent_p.K56K|NR1I3_ENST00000428574.2_Missense_Mutation_p.D189N|NR1I3_ENST00000367981.3_Missense_Mutation_p.D160N|NR1I3_ENST00000511676.1_Missense_Mutation_p.D160N|NR1I3_ENST00000367982.4_Missense_Mutation_p.D189N|NR1I3_ENST00000508740.1_Missense_Mutation_p.D160N|NR1I3_ENST00000502985.1_Silent_p.K85K|NR1I3_ENST00000437437.2_Missense_Mutation_p.D160N|NR1I3_ENST00000511748.1_Silent_p.K56K|NR1I3_ENST00000412844.2_Missense_Mutation_p.D160N|NR1I3_ENST00000515452.1_Missense_Mutation_p.D189N|NR1I3_ENST00000367985.3_Missense_Mutation_p.D189N Q14994 NR1I3_HUMAN nuclear receptor subfamily 1, group I, member 3 189 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1) 15 all_cancers(52;1.86e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) GAGATCTGGTCTTCAATGGGC 0.473000 16 268 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141986993 141986993 + Silent SNP T T C TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr2:141986993T>C ENST00000389484.3 - 6 1580 c.609A>G c.(607-609)ccA>ccG p.P203P NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 203 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ATAGTATAGGTGGTCTATCTG 0.294000 TSP Lung(27;0.18) 8 15 0 0 1 0 0 RPS6KC1 26750 broad.mit.edu 37 1 213415629 213415629 + Missense_Mutation SNP T T C TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr1:213415629T>C ENST00000366960.3 + 11 2960 c.2810T>C c.(2809-2811)tTg>tCg p.L937S RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.L925S|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.L725S|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.L640S NM_012424.3 NP_036556.2 Q96S38 KS6C1_HUMAN ribosomal protein S6 kinase, 52kDa, polypeptide 1 937 Protein kinase 2. cell communication|signal transduction early endosome|membrane ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3) 43 OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145) AACATCTTATTGAATGATAGA 0.398000 23 133 0 0 1 0 0 NUPL1 9818 broad.mit.edu 37 13 25875885 25875885 + Translation_Start_Site SNP G G A TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr13:25875885G>A ENST00000463407.1 + 0 117 NUPL1_ENST00000381736.3_De_novo_Start_OutOfFrame|NUPL1_ENST00000381718.3_De_novo_Start_OutOfFrame|NUPL1_ENST00000466694.1_3'UTR Q9BVL2 NUPL1_HUMAN nucleoporin like 1 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1) 16 Lung SC(185;0.0225)|Breast(139;0.0351) all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244) ATTTCGCCTTGCTGACGGCGT 0.692000 5 13 0 0 1 0 0 OR13C5 138799 broad.mit.edu 37 9 107361424 107361424 + Missense_Mutation SNP T T G TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr9:107361424T>G ENST00000374779.2 - 1 364 c.271A>C c.(271-273)Acc>Ccc p.T91P NM_001004482.1 NP_001004482.1 Q8NGS8 O13C5_HUMAN olfactory receptor, family 13, subfamily C, member 5 91 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4) 28 AGGGAAATGGTCTTTCTTTCT 0.517000 5 68 0 0 1 0 0 ZNF646 9726 broad.mit.edu 37 16 31089155 31089155 + Missense_Mutation SNP C C A TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr16:31089155C>A ENST00000394979.2 + 1 1933 c.1510C>A c.(1510-1512)Ctc>Atc p.L504I ZNF646_ENST00000300850.5_Missense_Mutation_p.L504I O15015 ZN646_HUMAN zinc finger protein 646 504 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3) 49 GTACCCCAATCTCATGGCCCT 0.627000 8 44 0.000157383 0.000161962 1 1 0 HOMEZ 57594 broad.mit.edu 37 14 23746018 23746018 + Missense_Mutation SNP G G C TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr14:23746018G>C ENST00000357460.5 - 2 583 c.419C>G c.(418-420)tCt>tGt p.S140C HOMEZ_ENST00000561013.1_Missense_Mutation_p.S142C|HOMEZ_ENST00000431326.2_Missense_Mutation_p.S142C NM_020834.2 NP_065885.2 Q8IX15 HOMEZ_HUMAN homeobox and leucine zipper encoding 140 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(5)|lung(7) 12 all_cancers(95;5.54e-06) GBM - Glioblastoma multiforme(265;0.00643) ATGAGTAAAAGAGAGAAGGGA 0.537000 110 80 0 0 1 0 0 LMTK2 22853 broad.mit.edu 37 7 97821353 97821353 + Missense_Mutation SNP G G C TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr7:97821353G>C ENST00000297293.5 + 11 1869 c.1576G>C c.(1576-1578)Ggc>Cgc p.G526R NM_014916.3 NP_055731.2 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 526 early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) AGATGACAGCGGCCAGGATGT 0.502000 31 55 0 0 1 0 0 TRIM17 51127 broad.mit.edu 37 1 228596357 228596357 + Missense_Mutation SNP C C T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr1:228596357C>T ENST00000366697.2 - 6 1935 c.979G>A c.(979-981)Ggg>Agg p.G327R TRIM17_ENST00000295033.3_Missense_Mutation_p.G327R|RP11-245P10.4_ENST00000436779.1_RNA|TRIM17_ENST00000366698.2_Missense_Mutation_p.G327R Q9Y577 TRI17_HUMAN tripartite motif containing 17 327 B30.2/SPRY. protein autoubiquitination intracellular protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1) 10 Prostate(94;0.0724) CTGCAGAACCCACTGCCCTCC 0.622000 20 151 0 0 1 0 0 GAA 2548 broad.mit.edu 37 17 78082309 78082309 + Missense_Mutation SNP A A G TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr17:78082309A>G ENST00000302262.3 + 7 1316 c.1097A>G c.(1096-1098)tAc>tGc p.Y366C GAA_ENST00000390015.3_Missense_Mutation_p.Y366C NM_000152.3 NP_000143.2 P10253 LYAG_HUMAN glucosidase, alpha; acid 366 cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis lysosomal membrane carbohydrate binding|maltose alpha-glucosidase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 21 all_neural(118;0.117) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139) Acarbose(DB00284) ATGCCGCCATACTGGGGCCTG 0.687000 12 34 0 0 1 0 0 CLEC4M 10332 broad.mit.edu 37 19 7828284 7828284 + Missense_Mutation SNP G G T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr19:7828284G>T ENST00000327325.5 + 2 170 c.52G>T c.(52-54)Gat>Tat p.D18Y CLEC4M_ENST00000357361.2_Missense_Mutation_p.D18Y|CLEC4M_ENST00000248228.4_Missense_Mutation_p.D18Y|CLEC4M_ENST00000597522.1_Missense_Mutation_p.D18Y|CLEC4M_ENST00000596363.1_Intron|CLEC4M_ENST00000359059.5_Missense_Mutation_p.D18Y|CLEC4M_ENST00000334806.5_Intron|CLEC4M_ENST00000394122.2_Missense_Mutation_p.D18Y|CLEC4M_ENST00000595496.1_Missense_Mutation_p.D18Y|CLEC4M_ENST00000596707.1_Missense_Mutation_p.D18Y NM_001144909.1|NM_014257.4 NP_001138381.1|NP_055072.3 Q9H2X3 CLC4M_HUMAN C-type lectin domain family 4, member M 18 cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to plasma membrane ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1) 26 TTCAGAAGAAGATCCAACAAC 0.522000 35 113 9.04072e-19 9.99423e-19 1 1 0 KCNQ5 56479 broad.mit.edu 37 6 73332235 73332235 + Silent SNP C C G TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr6:73332235C>G ENST00000342056.2 + 1 716 c.318C>G c.(316-318)gtC>gtG p.V106V KCNQ5_ENST00000370398.1_Silent_p.V106V|KCNQ5_ENST00000355635.3_Silent_p.V106V|KCNQ5_ENST00000355194.4_Silent_p.V106V|KCNQ5_ENST00000403813.2_Silent_p.V106V|KCNQ5_ENST00000402622.2_Silent_p.V106V|KCNQ5_ENST00000414165.2_Silent_p.V106V|KCNQ5_ENST00000370392.1_Silent_p.V106V NM_001160132.1|NM_001160133.1 NP_001153604.1|NP_001153605.1 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 5 106 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) GGCGCAACGTCAAGTACCGGC 0.667000 6 14 0 0 1 0 0 CR1L 1379 broad.mit.edu 37 1 207850847 207850847 + Missense_Mutation SNP G G A TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr1:207850847G>A ENST00000508064.2 + 2 271 c.211G>A c.(211-213)Gga>Aga p.G71R CR1L_ENST00000530905.1_3'UTR NM_175710.1 NP_783641.1 Q2VPA4 CR1L_HUMAN complement component (3b/4b) receptor 1-like 71 Sushi 1. cytoplasm|extracellular region|membrane endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 TGGTTATTCCGGAAGACCGTT 0.473000 31 207 0 0 1 0 0 STXBP5L 9515 broad.mit.edu 37 3 121134743 121134743 + Missense_Mutation SNP G G C TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr3:121134743G>C ENST00000273666.6 + 26 3497 c.3226G>C c.(3226-3228)Gaa>Caa p.E1076Q STXBP5L_ENST00000471454.1_Missense_Mutation_p.E1052Q NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 1076 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) AGAGACACCAGAAGCTCAAAA 0.363000 30 57 0 0 1 0 0 CDH23 64072 broad.mit.edu 37 10 73501457 73501457 + Missense_Mutation SNP G G A TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr10:73501457G>A ENST00000224721.6 + 37 4644 c.4639G>A c.(4639-4641)Ggt>Agt p.G1547S NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 1542 Cadherin 15. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 CCAGAACGTGGGTGGAGGTAC 0.587000 5 6 0 0 1 0 0 NRAP 4892 broad.mit.edu 37 10 115372141 115372141 + Missense_Mutation SNP G G A TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr10:115372141G>A ENST00000369358.4 - 30 3618 c.3374C>T c.(3373-3375)cCg>cTg p.P1125L NRAP_ENST00000359988.3_Missense_Mutation_p.P1117L|NRAP_ENST00000369360.3_Missense_Mutation_p.P1090L|NRAP_ENST00000360478.3_Missense_Mutation_p.P1082L Q86VF7 NRAP_HUMAN nebulin-related anchoring protein 1117 fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) CATGTCCAACGGCAGATGGAA 0.517000 22 59 0 0 1 0 0 KIAA1199 57214 broad.mit.edu 37 15 81213415 81213415 + Silent SNP C C T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr15:81213415C>T ENST00000394685.3 + 16 2465 c.2046C>T c.(2044-2046)ctC>ctT p.L682L KIAA1199_ENST00000220244.3_Silent_p.L682L|KIAA1199_ENST00000356249.5_Silent_p.L682L|RP11-351M8.2_ENST00000560873.1_RNA Q8WUJ3 K1199_HUMAN KIAA1199 682 breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 ACAACAACCTCATCAACTGTG 0.562000 5 20 0 0 1 0 0 MED12 9968 broad.mit.edu 37 X 70349942 70349942 + Missense_Mutation SNP G G A TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chrX:70349942G>A ENST00000333646.6 + 28 4124 c.3925G>A c.(3925-3927)Gac>Aac p.D1309N MED12_ENST00000374080.3_Missense_Mutation_p.D1309N|MED12_ENST00000374102.1_Missense_Mutation_p.D1309N NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 1309 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) TGACCTGCAAGACCCAGTGTT 0.552000 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome 6 7 0 0 1 0 0 ADC 113451 broad.mit.edu 37 1 33567476 33567476 + Missense_Mutation SNP C C G TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr1:33567476C>G ENST00000358680.3 + 8 1185 c.598C>G c.(598-600)Cat>Gat p.H200D ADC_ENST00000373440.1_Missense_Mutation_p.H200D|ADC_ENST00000398167.1_Intron|ADC_ENST00000373441.1_Intron|ADC_ENST00000294517.6_Intron|ADC_ENST00000484656.1_Intron|ADC_ENST00000373443.3_Intron Q96A70 ADC_HUMAN arginine decarboxylase 0 polyamine biosynthetic process|spermatogenesis cytosol arginine decarboxylase activity NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2) 11 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837) L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114) agagtccattcatttcattgc 0.418000 13 11 0 0 1 0 0 BTBD2 55643 broad.mit.edu 37 19 1986969 1986969 + Missense_Mutation SNP G G C TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr19:1986969G>C ENST00000255608.4 - 8 1292 c.1276C>G c.(1276-1278)Cac>Gac p.H426D NM_017797.3 NP_060267.2 Q9BX70 BTBD2_HUMAN BTB (POZ) domain containing 2 426 cytoplasmic mRNA processing body protein binding endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1) 12 Ovarian(11;2.11e-07)|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) CTATCGGTGTGAATAATCTGC 0.667000 37 70 0 0 1 0 0 RALGPS2 55103 broad.mit.edu 37 1 178863109 178863109 + Missense_Mutation SNP C C G TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr1:178863109C>G ENST00000367635.3 + 16 1719 c.1381C>G c.(1381-1383)Caa>Gaa p.Q461E RALGPS2_ENST00000367634.2_Missense_Mutation_p.Q435E|RALGPS2_ENST00000477383.1_3'UTR NM_152663.3 NP_689876.2 Q86X27 RGPS2_HUMAN Ral GEF with PH domain and SH3 binding motif 2 461 PH.|Required for stimulation of nucleotide exchange by RALA (By similarity). small GTPase mediated signal transduction cytoplasm|plasma membrane guanyl-nucleotide exchange factor activity|protein binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 TGTTACTATTCAAGGTGTTCT 0.308000 13 21 0 0 1 0 0 TICRR 90381 broad.mit.edu 37 15 90138788 90138788 + Missense_Mutation SNP A A G TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr15:90138788A>G ENST00000268138.7 + 7 1951 c.1846A>G c.(1846-1848)Aca>Gca p.T616A TICRR_ENST00000560985.1_Missense_Mutation_p.T615A TOPBP1-interacting checkpoint and replication regulator TAGTGGGAGAACAGTGGATAA 0.423000 14 80 0 0 1 0 0 OLFM1 10439 broad.mit.edu 37 9 137987734 137987734 + Nonsense_Mutation SNP G G T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr9:137987734G>T ENST00000252854.4 + 3 458 c.271G>T c.(271-273)Gag>Tag p.E91* OLFM1_ENST00000392991.4_Nonsense_Mutation_p.E109*|OLFM1_ENST00000371793.3_Nonsense_Mutation_p.E109*|OLFM1_ENST00000371796.3_Nonsense_Mutation_p.E82*|OLFM1_ENST00000277415.11_Nonsense_Mutation_p.E91* NM_014279.4 NP_055094.1 Q99784 NOE1_HUMAN olfactomedin 1 109 nervous system development endoplasmic reticulum lumen protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2) 21 Myeloproliferative disorder(178;0.0333) Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07) TCAATCCATAGAGGTCTTGGA 0.517000 48 26 5.73435e-26 6.49128e-26 1 1 0 PLCH1 23007 broad.mit.edu 37 3 155199886 155199886 + Missense_Mutation SNP C C G TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr3:155199886C>G ENST00000460012.1 - 23 4196 c.3839G>C c.(3838-3840)aGt>aCt p.S1280T PLCH1_ENST00000340059.7_Missense_Mutation_p.S1318T|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Missense_Mutation_p.S1280T|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000414191.1_Missense_Mutation_p.S1280T Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 1318 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) CTTGGTAGGACTTTTTGGTAA 0.507000 20 128 0 0 1 0 0 RASSF6 166824 broad.mit.edu 37 4 74442427 74442427 + Missense_Mutation SNP G G C TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr4:74442427G>C ENST00000307439.5 - 9 1037 c.743C>G c.(742-744)aCa>aGa p.T248R RASSF6_ENST00000342081.3_Missense_Mutation_p.T280R|RASSF6_ENST00000395777.2_Missense_Mutation_p.T214R|RASSF6_ENST00000335049.5_Missense_Mutation_p.T236R NM_001270391.1|NM_177532.4 NP_001257320.1|NP_803876.1 Q6ZTQ3 RASF6_HUMAN Ras association (RalGDS/AF-6) domain family member 6 280 Ras-associating. apoptosis|signal transduction protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2) 17 Breast(15;0.00102) all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187) CGGAATGTCTGTCTTCTTTAG 0.393000 6 181 0 0 1 0 0 TBC1D3P2 440452 broad.mit.edu 37 17 60342519 60342519 + RNA SNP G G T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr17:60342519G>T ENST00000581291.1 - 0 1634 breast(2)|kidney(1)|lung(2) 5 TGCAGGGCCGGGAAGTCCATG 0.652000 30 82 3.80469e-20 4.23909e-20 1 1 0 JAKMIP1 152789 broad.mit.edu 37 4 6051566 6051566 + Missense_Mutation SNP C C G TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr4:6051566C>G ENST00000409021.3 - 15 2391 c.1942G>C c.(1942-1944)Gat>Cat p.D648H JAKMIP1_ENST00000409371.3_Missense_Mutation_p.D463H NM_001099433.1 NP_001092903.1 Q96N16 JKIP1_HUMAN janus kinase and microtubule interacting protein 1 421 protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 CCAAGGATATCTAATTTCTTC 0.398000 5 27 0 0 1 0 0 ARHGAP30 257106 broad.mit.edu 37 1 161021247 161021247 + Missense_Mutation SNP G G C TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr1:161021247G>C ENST00000368013.3 - 10 1597 c.1277C>G c.(1276-1278)tCt>tGt p.S426C ARHGAP30_ENST00000368016.3_Missense_Mutation_p.S426C|ARHGAP30_ENST00000368015.1_Missense_Mutation_p.S249C NM_001025598.1|NM_181720.2 NP_001020769.1|NP_859071.2 Q7Z6I6 RHG30_HUMAN Rho GTPase activating protein 30 426 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) ACTGAGGATAGAGGTGATGTG 0.617000 21 293 0 0 1 0 0 SLITRK6 84189 broad.mit.edu 37 13 86368836 86368836 + Missense_Mutation SNP T T G TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr13:86368836T>G ENST00000400286.2 - 2 2406 c.1808A>C c.(1807-1809)gAc>gCc p.D603A NM_032229.2 NP_115605.2 Q9H5Y7 SLIK6_HUMAN SLIT and NTRK-like family, member 6 603 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) TGGCACAGCGTCCGTAAGAGA 0.433000 27 104 0 0 1 0 0 LRRC37A3 374819 broad.mit.edu 37 17 62856223 62856223 + Silent SNP C C A TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr17:62856223C>A ENST00000584306.1 - 11 4571 c.4041G>T c.(4039-4041)gcG>gcT p.A1347A LRRC37A3_ENST00000334962.5_Silent_p.A324A|LRRC37A3_ENST00000319651.5_Silent_p.A1347A|LRRC37A3_ENST00000339474.5_Silent_p.A465A|LRRC37A3_ENST00000400877.3_Silent_p.A385A NM_199340.2 NP_955372.2 O60309 L37A3_HUMAN leucine rich repeat containing 37, member A3 1347 integral to membrane NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 TGAGGCTCTTCGCTGCAGAGA 0.448000 78 107 4.01556e-35 4.61953e-35 1 1 0 KRTAP13-2 337959 broad.mit.edu 37 21 31744483 31744483 + Missense_Mutation SNP C C T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr21:31744483C>T ENST00000399889.2 - 1 74 c.49G>A c.(49-51)Gac>Aac p.D17N NM_181621.3 NP_853652.1 Q52LG2 KR132_HUMAN keratin associated protein 13-2 17 intermediate filament endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 21 CGCAGGTAGTCACCACAGGAG 0.542000 106 99 0 0 1 0 0 HPD 3242 broad.mit.edu 37 12 122277887 122277887 + Missense_Mutation SNP T T C TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr12:122277887T>C ENST00000543163.1 - 14 1350 c.905A>G c.(904-906)cAg>cGg p.Q302R HPD_ENST00000289004.4_Missense_Mutation_p.Q341R NM_001171993.1 NP_001165464.1 P32754 HPPD_HUMAN 4-hydroxyphenylpyruvate dioxygenase 341 L-phenylalanine catabolic process|tyrosine catabolic process cytosol 4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1) 18 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225) Nitisinone(DB00348) GGGCCGGTCCTGCACCGGTTT 0.627000 25 91 0 0 1 0 0 SRSF4 6429 broad.mit.edu 37 1 29476693 29476693 + Missense_Mutation SNP C C T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr1:29476693C>T ENST00000373795.4 - 5 824 c.590G>A c.(589-591)cGa>cAa p.R197Q SRSF4_ENST00000466448.1_Intron|SRSF4_ENST00000546138.1_Intron NM_005626.4 NP_005617.2 Q08170 SRSF4_HUMAN serine/arginine-rich splicing factor 4 197 Arg/Ser-rich (RS domain). mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nuclear speck nucleotide binding|RNA binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1) 27 ATGTCTGCTTCGAGAGCGAGA 0.398000 71 106 0 0 1 0 0 TRPM6 140803 broad.mit.edu 37 9 77347620 77347620 + Missense_Mutation SNP T T C TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr9:77347620T>C ENST00000451710.3 - 36 6058 c.5821A>G c.(5821-5823)Ata>Gta p.I1941V TRPM6_ENST00000449912.2_Missense_Mutation_p.I1932V|TRPM6_ENST00000376872.3_Missense_Mutation_p.I892V|TRPM6_ENST00000376871.3_Missense_Mutation_p.I774V|TRPM6_ENST00000361255.3_Missense_Mutation_p.I1932V|TRPM6_ENST00000360774.1_Missense_Mutation_p.I1937V Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 1937 Alpha-type protein kinase. response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 TCAGGTTTTATAACAGATGGA 0.244000 17 7 0 0 1 0 0 SLITRK5 26050 broad.mit.edu 37 13 88328772 88328772 + Missense_Mutation SNP G G A TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr13:88328772G>A ENST00000325089.6 + 2 1348 c.1129G>A c.(1129-1131)Gcg>Acg p.A377T SLITRK5_ENST00000400028.3_Missense_Mutation_p.A136T NM_015567.1 NP_056382.1 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 377 LRRNT. integral to membrane breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4) 81 all_neural(89;0.101)|Medulloblastoma(90;0.163) GTGTCCCACCGCGTGCTCTTG 0.582000 18 85 0 0 1 0 0 EPN1 29924 broad.mit.edu 37 19 56204330 56204330 + Silent SNP C C T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr19:56204330C>T ENST00000411543.2 + 9 1996 c.1449C>T c.(1447-1449)ttC>ttT p.F483F EPN1_ENST00000085079.7_Silent_p.F371F|EPN1_ENST00000270460.6_Silent_p.F397F NM_001130071.1 NP_001123543.1 Q9Y6I3 EPN1_HUMAN epsin 1 397 Ala/Gly/Pro-rich. endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|cytoplasm|nucleus|plasma membrane lipid binding endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1) 17 Colorectal(82;0.00244)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.112) CCGGGGGATTCGACACGGAGC 0.697000 22 180 0 0 1 0 0 MED12 9968 broad.mit.edu 37 X 70349569 70349569 + Missense_Mutation SNP G G C TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chrX:70349569G>C ENST00000333646.6 + 27 3930 c.3731G>C c.(3730-3732)gGa>gCa p.G1244A MED12_ENST00000374080.3_Missense_Mutation_p.G1244A|MED12_ENST00000374102.1_Missense_Mutation_p.G1244A NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 1244 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) ACTGTGACAGGAGGAACAGAA 0.587000 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome OREG0019857 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 5 0 0 1 0 0 GRIA4 2893 broad.mit.edu 37 11 105732928 105732928 + Silent SNP A A G TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr11:105732928A>G ENST00000393127.2 + 5 1112 c.666A>G c.(664-666)ttA>ttG p.L222L GRIA4_ENST00000525187.1_Silent_p.L222L|GRIA4_ENST00000530497.1_Silent_p.L222L|GRIA4_ENST00000282499.5_Silent_p.L222L|GRIA4_ENST00000428631.2_Silent_p.L222L|GRIA4_ENST00000393125.2_Silent_p.L222L NM_001077243.2 NP_001070711 P48058 GRIA4_HUMAN glutamate receptor, ionotropic, AMPA 4 222 glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 82 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) AAAACATATTAGAACAGGTAA 0.343000 3 17 0 0 1 0 0 OR4C11 219429 broad.mit.edu 37 11 55371373 55371373 + Silent SNP G G A TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr11:55371373G>A ENST00000302231.4 - 1 501 c.477C>T c.(475-477)atC>atT p.I159I NM_001004700.2 NP_001004700.2 Q6IEV9 OR4CB_HUMAN olfactory receptor, family 4, subfamily C, member 11 159 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1) 33 TTAAGGCCAGGATAATCTGAG 0.453000 12 73 0 0 1 0 0 PICALM 8301 broad.mit.edu 37 11 85733472 85733472 + Nonsense_Mutation SNP A A T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr11:85733472A>T ENST00000526033.1 - 4 706 c.390T>A c.(388-390)taT>taA p.Y130* PICALM_ENST00000393346.3_Nonsense_Mutation_p.Y130*|PICALM_ENST00000528398.1_Nonsense_Mutation_p.Y79*|PICALM_ENST00000356360.5_Nonsense_Mutation_p.Y130*|PICALM_ENST00000532317.1_Nonsense_Mutation_p.Y130*|PICALM_ENST00000528411.1_5'UTR NM_001206946.1|NM_007166.3 NP_001193875.1|NP_009097.2 Q13492 PICAL_HUMAN phosphatidylinositol binding clathrin assembly protein 130 ENTH. clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane 1-phosphatidylinositol binding|clathrin heavy chain binding endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092) TCTCATTTAAATATCTACTAT 0.289000 T """MLLT10, MLL""" """TALL, AML, """ 15 68 0 0 1 0 0 PFKM 5213 broad.mit.edu 37 12 48537551 48537551 + Missense_Mutation SNP C C G TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr12:48537551C>G ENST00000340802.6 + 21 2271 c.2047C>G c.(2047-2049)Ctg>Gtg p.L683V PFKM_ENST00000551804.1_Missense_Mutation_p.L581V|PFKM_ENST00000312352.7_Missense_Mutation_p.L612V|PFKM_ENST00000395233.2_Missense_Mutation_p.L581V|PFKM_ENST00000359794.5_Missense_Mutation_p.L612V|PFKM_ENST00000547587.1_Missense_Mutation_p.L612V NM_001166686.1 NP_001160158.1 P08237 K6PF_HUMAN phosphofructokinase, muscle 612 fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis 6-phosphofructokinase complex|apical plasma membrane 6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 35 TGTTGAACATCTGGTGCAAAA 0.403000 13 70 0 0 1 0 0 TMEM179B 374395 broad.mit.edu 37 11 62557438 62557438 + Silent SNP A A G TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr11:62557438A>G ENST00000333449.4 + 5 584 c.579A>G c.(577-579)ccA>ccG p.P193P TMEM223_ENST00000525631.1_Intron|TMEM223_ENST00000527073.1_Intron|TMEM179B_ENST00000533861.1_3'UTR NM_199337.2 NP_955369.1 Q7Z7N9 T179B_HUMAN transmembrane protein 179B 193 integral to membrane kidney(1)|large_intestine(1)|liver(1)|lung(1) 4 AAGCCACCCCATACCGGCCTC 0.557000 38 124 0 0 1 0 0 CTNNA2 1496 broad.mit.edu 37 2 80835396 80835396 + Missense_Mutation SNP G G C TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr2:80835396G>C ENST00000466387.1 + 21 3107 c.2383G>C c.(2383-2385)Gtg>Ctg p.V795L AC008067.2_ENST00000609950.1_RNA|CTNNA2_ENST00000343114.3_Missense_Mutation_p.V474L|CTNNA2_ENST00000496558.1_Missense_Mutation_p.V795L|CTNNA2_ENST00000361291.4_Missense_Mutation_p.V829L|CTNNA2_ENST00000402739.4_Missense_Mutation_p.V795L|AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000541047.1_Missense_Mutation_p.V795L|CTNNA2_ENST00000540488.1_Intron P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 795 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 CTGCAGCAAGGTGAAGGCAGA 0.448000 6 65 0 0 1 0 0 ITSN1 6453 broad.mit.edu 37 21 35138249 35138249 + Missense_Mutation SNP G G A TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr21:35138249G>A ENST00000381318.3 + 10 1147 c.859G>A c.(859-861)Gat>Aat p.D287N AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Missense_Mutation_p.D287N|ITSN1_ENST00000399355.2_Missense_Mutation_p.D287N|ITSN1_ENST00000381285.4_Missense_Mutation_p.D287N|ITSN1_ENST00000399326.3_Missense_Mutation_p.D287N|ITSN1_ENST00000399353.1_Missense_Mutation_p.D250N|ITSN1_ENST00000399338.4_Missense_Mutation_p.D287N|ITSN1_ENST00000399349.1_Missense_Mutation_p.D287N|ITSN1_ENST00000488166.1_3'UTR|ITSN1_ENST00000399367.3_Missense_Mutation_p.D287N|ITSN1_ENST00000379960.5_Missense_Mutation_p.D287N|ITSN1_ENST00000381291.4_Missense_Mutation_p.D287N|ITSN1_ENST00000399352.1_Missense_Mutation_p.D287N NM_003024.2 NP_003015.2 Q15811 ITSN1_HUMAN intersectin 1 (SH3 domain protein) 287 EF-hand 2.|EH 2. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 67 GCACCTCATTGATGTAGCTAT 0.423000 10 76 0 0 1 0 0 SRP72 6731 broad.mit.edu 37 4 57351016 57351016 + Missense_Mutation SNP A A G TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr4:57351016A>G ENST00000342756.5 + 10 1793 c.1072A>G c.(1072-1074)Ata>Gta p.I358V SRP72_ENST00000510663.1_Missense_Mutation_p.I297V NM_006947.3 NP_008878.3 O76094 SRP72_HUMAN signal recognition particle 72kDa 358 response to drug|SRP-dependent cotranslational protein targeting to membrane cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting 7S RNA binding|signal recognition particle binding breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2) 22 Glioma(25;0.08)|all_neural(26;0.101) CACAAAAGCAATAGAGCTGCT 0.403000 12 36 0 0 1 0 0 RBM25 58517 broad.mit.edu 37 14 73572608 73572608 + Missense_Mutation SNP G G A TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr14:73572608G>A ENST00000261973.7 + 11 1481 c.1196G>A c.(1195-1197)aGa>aAa p.R399K RBM25_ENST00000527432.1_Missense_Mutation_p.R399K NM_021239.2 NP_067062.1 P49756 RBM25_HUMAN RNA binding motif protein 25 399 Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization. apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing cytoplasm|nuclear speck mRNA binding|nucleotide binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1) 31 BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688) gagcgggaaagagagagagag 0.443000 21 16 0 0 1 0 0 ZNF668 79759 broad.mit.edu 37 16 31073359 31073359 + Nonsense_Mutation SNP C C T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr16:31073359C>T ENST00000417110.2 + 1 547 c.547C>T c.(547-549)Cga>Tga p.R183* ZNF668_ENST00000538906.1_Missense_Mutation_p.R297H|ZNF668_ENST00000539836.3_Missense_Mutation_p.R320H|ZNF668_ENST00000426488.2_Missense_Mutation_p.R320H|ZNF668_ENST00000300849.4_Missense_Mutation_p.R297H|ZNF668_ENST00000394983.2_Missense_Mutation_p.R297H|ZNF668_ENST00000535577.1_Missense_Mutation_p.R297H Q96K58 ZN668_HUMAN zinc finger protein 668 262 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 27 GCGCTGGTGGCGACGGAAGCT 0.682000 12 52 0 0 1 0 0 SEPT12 124404 broad.mit.edu 37 16 4835988 4835988 + Silent SNP C C T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr16:4835988C>T ENST00000268231.8 - 3 548 c.285G>A c.(283-285)ctG>ctA p.L95L SEPT12_ENST00000591861.1_5'UTR|SEPT12_ENST00000396693.5_Silent_p.L95L NM_144605.4 NP_653206.2 Q8IYM1 SEP12_HUMAN septin 12 95 cell cycle|cell division cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3) 23 CACCATGGGTCAGTGAATGCA 0.627000 10 23 0 0 1 0 0 PLXNA4 91584 broad.mit.edu 37 7 131888097 131888097 + Missense_Mutation SNP G G A TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr7:131888097G>A ENST00000359827.3 - 11 3342 c.2380C>T c.(2380-2382)Cca>Tca p.P794S PLXNA4_ENST00000321063.4_Missense_Mutation_p.P794S Q9HCM2 PLXA4_HUMAN plexin A4 794 integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 TTCTGAGCTGGGTTGTCAATG 0.582000 34 32 0 0 1 0 0 TRIOBP 11078 broad.mit.edu 37 22 38165183 38165183 + Missense_Mutation SNP C C T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr22:38165183C>T ENST00000406386.3 + 20 6979 c.6724C>T c.(6724-6726)Cgc>Tgc p.R2242C TRIOBP_ENST00000403663.2_Missense_Mutation_p.R529C NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 2242 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) GGAGCTGCTGCGCCACAACCA 0.711000 10 14 0 0 1 0 0 PCDH7 5099 broad.mit.edu 37 4 30921799 30921799 + Missense_Mutation SNP G G C TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr4:30921799G>C ENST00000543491.1 + 2 3199 c.3199G>C c.(3199-3201)Gtt>Ctt p.V1067L PCDH7_ENST00000509925.1_3'UTR O60245 PCDH7_HUMAN protocadherin 7 0 homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 55 GACGTTTTCTGTTGTGAGTCA 0.413000 16 33 0 0 1 0 0 ZNF70 7621 broad.mit.edu 37 22 24086359 24086359 + Silent SNP G G A TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr22:24086359G>A ENST00000341976.3 - 2 1429 c.969C>T c.(967-969)ctC>ctT p.L323L NM_021916.2 NP_068735.1 Q9UC06 ZNF70_HUMAN zinc finger protein 70 323 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1) 21 GGTGCTCAATGAGGTTGGAGC 0.567000 34 36 0 0 1 0 0 LIPG 9388 broad.mit.edu 37 18 47113192 47113192 + Missense_Mutation SNP G G A TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr18:47113192G>A ENST00000261292.4 + 9 1731 c.1453G>A c.(1453-1455)Gat>Aat p.D485N LIPG_ENST00000427224.2_Missense_Mutation_p.D411N NM_006033.2 NP_006024.1 Q9Y5X9 LIPE_HUMAN lipase, endothelial 485 cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport extracellular space heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2) 18 CAAGTGTCGGGATGGCTGGAG 0.512000 19 22 0 0 1 0 0 GUCY1A3 2982 broad.mit.edu 37 4 156618262 156618262 + Silent SNP G G T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr4:156618262G>T ENST00000296518.7 + 3 452 c.243G>T c.(241-243)ctG>ctT p.L81L GUCY1A3_ENST00000455639.2_Silent_p.L81L|GUCY1A3_ENST00000511507.1_Silent_p.L81L|GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000513574.1_Silent_p.L81L|GUCY1A3_ENST00000506455.1_Silent_p.L81L|GUCY1A3_ENST00000511108.1_Silent_p.L81L|GUCY1A3_ENST00000515602.1_3'UTR Q02108 GCYA3_HUMAN guanylate cyclase 1, soluble, alpha 3 81 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) TTTGCAAACTGATTTTCCCAG 0.363000 22 56 3.8784e-16 4.25422e-16 1 1 0 PRKDC 5591 broad.mit.edu 37 8 48719725 48719725 + Missense_Mutation SNP C C T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr8:48719725C>T ENST00000314191.2 - 70 9773 c.9717G>A c.(9715-9717)atG>atA p.M3239I PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.M3239I NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 3240 FAT. cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) CTATCATCTTCATTTTCATGG 0.458000 Non-homologous end-joining 11 72 0 0 1 0 0 KLK14 43847 broad.mit.edu 37 19 51582885 51582885 + Missense_Mutation SNP C C T rs61998181 by1000genomes TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr19:51582885C>T ENST00000391802.1 - 5 553 c.335G>A c.(334-336)cGt>cAt p.R112H KLK14_ENST00000156499.2_Missense_Mutation_p.R112H NM_022046.4 NP_071329.2 Q9P0G3 KLK14_HUMAN kallikrein-related peptidase 14 112 Peptidase S1. epidermis morphogenesis|fertilization|negative regulation of G-protein coupled receptor protein signaling pathway|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis|seminal clot liquefaction extracellular space serine-type endopeptidase activity kidney(4)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1) 11 all_neural(266;0.0199) OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422) CGTCACCTGACGAACCACGCG 0.657000 5 22 0 0 1 0 0 SRSF8 10929 broad.mit.edu 37 11 94801097 94801097 + RNA SNP G G T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr11:94801097G>T ENST00000529911.1 + 0 737 NM_032102.3 NP_115285.1 Q9BRL6 SRSF8_HUMAN serine/arginine-rich splicing factor 8 mRNA processing|RNA splicing nucleus nucleotide binding|RNA binding AGTCCTCCTCGGTCTCCAGGT 0.582000 32 42 4.15321e-07 4.46904e-07 1 1 0 MUC17 140453 broad.mit.edu 37 7 100675761 100675761 + Missense_Mutation SNP C C T rs150423564 byFrequency TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr7:100675761C>T ENST00000306151.4 + 3 1128 c.1064C>T c.(1063-1065)tCa>tTa p.S355L NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 355 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) AGCACACTTTCAATAACTCCT 0.473000 227 168 0 0 1 0 0 NCR1 9437 broad.mit.edu 37 19 55417989 55417989 + Missense_Mutation SNP T T A TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr19:55417989T>A ENST00000594765.1 + 3 204 c.179T>A c.(178-180)cTg>cAg p.L60Q NCR1_ENST00000447255.1_Missense_Mutation_p.L60Q|NCR1_ENST00000598576.1_Missense_Mutation_p.L48Q|NCR1_ENST00000357397.5_Intron|NCR1_ENST00000291890.4_Missense_Mutation_p.L60Q|NCR1_ENST00000338835.5_Missense_Mutation_p.L60Q|NCR1_ENST00000350790.5_Intron O76036 NCTR1_HUMAN natural cytotoxicity triggering receptor 1 60 Ig-like 1. cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity integral to plasma membrane|SWI/SNF complex receptor activity|receptor signaling protein activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1) 18 GBM - Glioblastoma multiforme(193;0.0449) GAATACCAGCTGCACTTTGAA 0.498000 17 97 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27106861 27106861 + Nonsense_Mutation SNP C C T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr1:27106861C>T ENST00000324856.7 + 20 6843 c.6472C>T c.(6472-6474)Cga>Tga p.R2158* ARID1A_ENST00000457599.2_Nonsense_Mutation_p.R1941*|ARID1A_ENST00000540690.1_Nonsense_Mutation_p.R486*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.R1775* NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 2158 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding p.R2158*(3) ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) CCTCAGTGACCGAAAGAACCC 0.597000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 22 119 0 0 1 0 0 MLIP 90523 broad.mit.edu 37 6 53989525 53989525 + Silent SNP T T C TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr6:53989525T>C ENST00000514921.1 + 3 587 c.474T>C c.(472-474)gcT>gcC p.A158A MLIP_ENST00000358276.5_Silent_p.A152A|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000509997.1_Silent_p.A106A|MLIP_ENST00000370877.2_Silent_p.A106A|MLIP_ENST00000274897.5_Silent_p.A158A|MLIP_ENST00000502396.1_Silent_p.A169A|MLIP_ENST00000370876.2_Silent_p.A96A NM_001281746.1 NP_001268675.1 Q5VWP3 MLIP_HUMAN muscular LMNA-interacting protein 158 nuclear envelope|PML body protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1) 34 GCACCGCAGCTGTCCGGCCCA 0.527000 28 96 0 0 1 0 0 HEPH 9843 broad.mit.edu 37 X 65414978 65414978 + Missense_Mutation SNP G G A TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chrX:65414978G>A ENST00000519389.1 + 9 1749 c.1570G>A c.(1570-1572)Gtg>Atg p.V524M HEPH_ENST00000374727.3_Missense_Mutation_p.V473M|HEPH_ENST00000441993.2_Missense_Mutation_p.V473M|HEPH_ENST00000419594.1_Missense_Mutation_p.V473M|HEPH_ENST00000343002.2_Missense_Mutation_p.V470M|HEPH_ENST00000336279.5_Missense_Mutation_p.V203M Q9BQS7 HEPH_HUMAN hephaestin 470 Plastocyanin-like 3. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 CACCATTCAGGTGGTCTTCTA 0.507000 15 12 0 0 1 0 0 OVCH1 341350 broad.mit.edu 37 12 29596409 29596409 + Silent SNP A A G TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr12:29596409A>G ENST00000318184.5 - 25 3041 c.3042T>C c.(3040-3042)ccT>ccC p.P1014P OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron NM_183378.2 NP_899234.2 Q7RTY7 OVCH1_HUMAN ovochymase 1 1014 proteolysis extracellular region metal ion binding|serine-type endopeptidase activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3) 92 Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155) TGTGATTTAAAGGGGCTACTA 0.343000 80 98 0 0 1 0 0 LY9 4063 broad.mit.edu 37 1 160794030 160794030 + Silent SNP G G A TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr1:160794030G>A ENST00000368037.5 + 9 1962 c.1848G>A c.(1846-1848)cgG>cgA p.R616R LY9_ENST00000392203.4_Silent_p.R540R|LY9_ENST00000368040.1_Intron|LY9_ENST00000263285.6_Silent_p.R630R|LY9_ENST00000341032.4_Silent_p.R496R|LY9_ENST00000368041.2_Silent_p.R500R NM_001261456.1|NM_002348.3 NP_001248385.1|NP_002339.2 Q9HBG7 LY9_HUMAN lymphocyte antigen 9 cell adhesion|immunoglobulin mediated immune response integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) GCTCCATACGGAAACCTCAGG 0.488000 19 276 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7580988 7580988 + Missense_Mutation SNP C C G TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr6:7580988C>G ENST00000379802.3 + 23 4906 c.4565C>G c.(4564-4566)aCg>aGg p.T1522R DSP_ENST00000418664.2_Intron NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 1522 Central fibrous rod domain. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) AGTAGTGCGACGGAGACAATA 0.473000 33 180 0 0 1 0 0 PCDHB13 56123 broad.mit.edu 37 5 140596021 140596021 + Missense_Mutation SNP C C T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr5:140596021C>T ENST00000341948.4 + 1 2513 c.2326C>T c.(2326-2328)Ccc>Tcc p.P776S NM_018933.2 NP_061756.1 Q9Y5F0 PCDBD_HUMAN 776 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 66 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CAACTTCCCTCCCCAGTGCCC 0.473000 17 76 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178948096 178948096 + Missense_Mutation SNP G G C TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr3:178948096G>C ENST00000263967.3 + 20 3025 c.2868G>C c.(2866-2868)ttG>ttC p.L956F NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 956 PI3K/PI4K. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) CATTTGTTTTGACACAGGATT 0.323000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 24 74 0 0 1 0 0 FAM9C 171484 broad.mit.edu 37 X 13061301 13061301 + Missense_Mutation SNP A A T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chrX:13061301A>T ENST00000542843.1 - 3 338 c.128T>A c.(127-129)gTa>gAa p.V43E FAM9C_ENST00000333995.3_Missense_Mutation_p.V43E|FAM9C_ENST00000380625.3_Missense_Mutation_p.V43E Q8IZT9 FAM9C_HUMAN family with sequence similarity 9, member C 43 nucleus NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1) 5 CTCATCAGTTACATCTCCCTC 0.398000 26 82 0 0 1 0 0 GRIA4 2893 broad.mit.edu 37 11 105795396 105795396 + Missense_Mutation SNP A A T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr11:105795396A>T ENST00000393127.2 + 12 2194 c.1748A>T c.(1747-1749)gAa>gTa p.E583V GRIA4_ENST00000525187.1_Missense_Mutation_p.E583V|GRIA4_ENST00000530497.1_Missense_Mutation_p.E583V|GRIA4_ENST00000282499.5_Missense_Mutation_p.E583V NM_001077243.2 NP_001070711 P48058 GRIA4_HUMAN glutamate receptor, ionotropic, AMPA 4 583 glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 82 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) GACGGAAAGGAAGGACCCAGC 0.488000 12 38 0 0 1 0 0 MAGEC3 139081 broad.mit.edu 37 X 140984520 140984520 + Missense_Mutation SNP G G A TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chrX:140984520G>A ENST00000544766.1 + 5 609 c.82G>A c.(82-84)Gca>Aca p.A28T MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000409007.1_Missense_Mutation_p.A28T|MAGEC3_ENST00000298296.1_Intron|MAGEC3_ENST00000536088.1_Missense_Mutation_p.A28T NM_177456.2 NP_803251.1 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 0 NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2) 69 Acute lymphoblastic leukemia(192;6.56e-05) CTTGGTAGATGCACAGGATTC 0.517000 38 67 0 0 1 0 0 RIPK4 54101 broad.mit.edu 37 21 43164042 43164042 + Splice_Site SNP C C T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr21:43164042C>T ENST00000352483.2 - 8 1403 c.1339G>A c.(1339-1341)Gat>Aat p.D447N RIPK4_ENST00000332512.3_Splice_Site_p.D399N|RIPK4_ENST00000544709.1_Splice_Site_p.D336N|RIPK4_ENST00000542057.1_Splice_Site_p.D336N Q96T11 Q96T11_HUMAN receptor-interacting serine-threonine kinase 4 399 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 CCCCACTCACCGCTGGTTGAA 0.597000 13 89 0 0 1 0 0 NAV2 89797 broad.mit.edu 37 11 20112513 20112513 + Silent SNP C C G TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr11:20112513C>G ENST00000396085.1 + 28 5971 c.5610C>G c.(5608-5610)ctC>ctG p.L1870L NAV2_ENST00000540292.1_Silent_p.L1857L|NAV2_ENST00000360655.4_Silent_p.L1803L|NAV2_ENST00000396087.3_Silent_p.L1926L|NAV2_ENST00000311043.8_Silent_p.L931L|NAV2_ENST00000533917.1_Silent_p.L931L|NAV2_ENST00000349880.4_Silent_p.L1867L|NAV2_ENST00000527559.2_Silent_p.L1855L NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 1926 nucleus ATP binding|helicase activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 TAGAAGCTCTCAGTTCTGCCC 0.537000 9 39 0 0 1 0 0 CCND2 894 broad.mit.edu 37 12 4409158 4409158 + Missense_Mutation SNP C C T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr12:4409158C>T ENST00000261254.3 + 5 1122 c.853C>T c.(853-855)Cgg>Tgg p.R285W NM_001759.3 NP_001750.1 P30279 CCND2_HUMAN cyclin D2 285 cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus protein kinase binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 17 all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206) TACAGACGTGCGGGATATCGA 0.532000 T IGL@ """NHL,CLL""" 4 43 0 0 1 0 0 KCND2 3751 broad.mit.edu 37 7 119915151 119915151 + Missense_Mutation SNP C C A TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr7:119915151C>A ENST00000331113.4 + 1 1430 c.465C>A c.(463-465)gaC>gaA p.D155E NM_012281.2 NP_036413.1 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 2 155 regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 75 all_neural(327;0.117) CGGATACCGACACCGCTGGGG 0.622000 49 75 7.88023e-25 8.84962e-25 1 1 0 MAD2L1 4085 broad.mit.edu 37 4 120982076 120982076 + Missense_Mutation SNP C C T rs78047690 TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr4:120982076C>T ENST00000296509.6 - 4 737 c.398G>A c.(397-399)aGa>aAa p.R133K NM_002358.3 NP_002349.1 Q13257 MD2L1_HUMAN MAD2 mitotic arrest deficient-like 1 (yeast) HORMA. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of apoptosis|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of mitotic cell cycle spindle assembly checkpoint condensed chromosome kinetochore|cytosol|nucleus|perinuclear region of cytoplasm protein homodimerization activity p.R133K(1) breast(2)|kidney(2)|large_intestine(2)|lung(3) 9 TGTGATCTGTCTGATCACTGA 0.353000 5 15 0 0 1 0 0 ZNF70 7621 broad.mit.edu 37 22 24086128 24086128 + Silent SNP G G A TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr22:24086128G>A ENST00000341976.3 - 2 1660 c.1200C>T c.(1198-1200)ttC>ttT p.F400F NM_021916.2 NP_068735.1 Q9UC06 ZNF70_HUMAN zinc finger protein 70 400 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1) 21 ACCGGTGCCGGAAGGCTTTGC 0.592000 82 66 0 0 1 0 0 ARMC8 25852 broad.mit.edu 37 3 137991854 137991854 + Nonsense_Mutation SNP C C T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr3:137991854C>T ENST00000469044.1 + 17 1796 c.1525C>T c.(1525-1527)Cga>Tga p.R509* ARMC8_ENST00000491704.1_Nonsense_Mutation_p.R467*|ARMC8_ENST00000461822.1_Nonsense_Mutation_p.R442*|NME9_ENST00000383180.2_Intron|NME9_ENST00000484930.1_Intron|NME9_ENST00000536478.1_Intron|NME9_ENST00000317876.4_Intron|ARMC8_ENST00000485396.1_Nonsense_Mutation_p.R436*|NME9_ENST00000341790.5_Intron|ARMC8_ENST00000538260.1_Nonsense_Mutation_p.R478*|ARMC8_ENST00000481646.1_Nonsense_Mutation_p.R495*|ARMC8_ENST00000393058.3_Nonsense_Mutation_p.R499* NM_001267041.1|NM_001267042.1 NP_001253970.1|NP_001253971.1 Q8IUR7 ARMC8_HUMAN armadillo repeat containing 8 509 binding endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1) 16 AGATATTTTACGAAGCTTGAG 0.338000 8 52 0 0 1 0 0 BAZ2B 29994 broad.mit.edu 37 2 160181350 160181350 + Missense_Mutation SNP T T C TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr2:160181350T>C ENST00000392783.2 - 36 6820 c.6325A>G c.(6325-6327)Aca>Gca p.T2109A BAZ2B_ENST00000392782.1_Missense_Mutation_p.T2073A|BAZ2B_ENST00000343439.5_Missense_Mutation_p.T2009A|BAZ2B_ENST00000355831.2_Missense_Mutation_p.T2075A NM_013450.2 NP_038478.2 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 2109 Bromo. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1) 82 TCTCTAATTGTGGAAAAATCC 0.328000 7 27 0 0 1 0 0 MATN4 8785 broad.mit.edu 37 20 43929838 43929838 + Missense_Mutation SNP G G C TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr20:43929838G>C ENST00000537548.1 - 6 1037 c.793C>G c.(793-795)Cat>Gat p.H265D MATN4_ENST00000372754.1_Missense_Mutation_p.H306D|MATN4_ENST00000353917.5_Intron|MATN4_ENST00000342716.4_Missense_Mutation_p.H265D|MATN4_ENST00000372756.1_Missense_Mutation_p.H265D|MATN4_ENST00000360607.6_Missense_Mutation_p.H224D|MATN4_ENST00000372751.4_Missense_Mutation_p.H116D O95460 MATN4_HUMAN matrilin 4 306 EGF-like 2. extracellular region protein binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 Myeloproliferative disorder(115;0.0122) TGACAGCTATGGTTCCCAAAG 0.587000 OREG0025977 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 144 0 0 1 0 0 MAGEB18 286514 broad.mit.edu 37 X 26157474 26157474 + Silent SNP G G A TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chrX:26157474G>A ENST00000325250.1 + 2 559 c.372G>A c.(370-372)acG>acA p.T124T NM_173699.3 NP_775970 Q96M61 MAGBI_HUMAN melanoma antigen family B, 18 124 MAGE. protein binding p.T124T(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2) 33 AGTATGAAACGAAAGAGCCAA 0.423000 7 3 0 0 1 0 0 TBC1D28 254272 broad.mit.edu 37 17 18541224 18541224 + Missense_Mutation SNP G G C TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr17:18541224G>C ENST00000345096.4 - 8 1149 c.450C>G c.(448-450)agC>agG p.S150R TBC1D28_ENST00000405044.1_Missense_Mutation_p.S150R Q2M2D7 TBC28_HUMAN TBC1 domain family, member 28 150 Rab-GAP TBC. intracellular Rab GTPase activator activity breast(1)|large_intestine(5)|lung(2)|ovary(1) 9 GCAGGGTGTGGCTGACATCTA 0.542000 27 70 0 0 1 0 0 DBX2 440097 broad.mit.edu 37 12 45410226 45410226 + Missense_Mutation SNP C C G TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr12:45410226C>G ENST00000332700.6 - 4 1034 c.863G>C c.(862-864)aGt>aCt p.S288T NM_001004329.2 NP_001004329.2 Q6ZNG2 DBX2_HUMAN developing brain homeobox 2 288 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 22 Lung SC(27;0.192) Lung NSC(34;0.142) GBM - Glioblastoma multiforme(48;0.0515) CCATCTTGGACTTGAGTGCTG 0.512000 20 112 0 0 1 0 0 ADAMTSL1 92949 broad.mit.edu 37 9 18777400 18777400 + Missense_Mutation SNP C C T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr9:18777400C>T ENST00000380548.4 + 19 3512 c.3173C>T c.(3172-3174)cCg>cTg p.P1058L NM_001040272.5 NP_001035362.3 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 1058 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) GAGGAGGACCCGGGTGCAGAG 0.692000 4 14 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105419747 105419747 + Nonsense_Mutation SNP T T A TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr14:105419747T>A ENST00000333244.5 - 7 2160 c.2041A>T c.(2041-2043)Aag>Tag p.K681* AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 681 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) AATGGCATCTTGAACTTGGGC 0.502000 195 131 0 0 1 0 0 CLRN1 7401 broad.mit.edu 37 3 150690430 150690430 + Silent SNP G G T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr3:150690430G>T ENST00000327047.1 - 1 356 c.66C>A c.(64-66)ctC>ctA p.L22L CLRN1-AS1_ENST00000476886.1_RNA|CLRN1_ENST00000328863.4_Silent_p.L22L|RP11-166N6.2_ENST00000469268.1_RNA NM_174878.2 NP_777367.1 P58418 CLRN1_HUMAN clarin 1 22 equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound integral to membrane autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2) 14 LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) TCACAACTCCGAGGGCACATG 0.527000 9 119 1.12685e-05 1.17242e-05 1 1 0 GRID1 2894 broad.mit.edu 37 10 87487628 87487628 + Missense_Mutation SNP C C T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr10:87487628C>T ENST00000327946.7 - 10 1602 c.1517G>A c.(1516-1518)gGg>gAg p.G506E GRID1_ENST00000536331.1_Missense_Mutation_p.G77E NM_017551.2 NP_060021.1 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 506 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) GATGAGCTCCCCGATCATCCC 0.542000 Multiple Myeloma(13;0.14) 56 54 0 0 1 0 0 LCP2 3937 broad.mit.edu 37 5 169697867 169697867 + Missense_Mutation SNP C C T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr5:169697867C>T ENST00000046794.5 - 7 994 c.379G>A c.(379-381)Gac>Aac p.D127N NM_005565.3 NP_005556.1 Q13094 LCP2_HUMAN lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa) 127 immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway cytosol protein binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 23 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0109)|all_neural(177;0.0146) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) OV - Ovarian serous cystadenocarcinoma(192;0.247) GACTCATAGTCTCCATCATCC 0.532000 9 23 0 0 1 0 0 LRRC30 339291 broad.mit.edu 37 18 7231328 7231328 + Silent SNP C C T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr18:7231328C>T ENST00000383467.2 + 1 206 c.192C>T c.(190-192)ccC>ccT p.P64P NM_001105581.1 NP_001099051.1 A6NM36 LRC30_HUMAN leucine rich repeat containing 30 64 central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3) 31 CAGACATCCCCGACTTTCTGT 0.617000 12 59 0 0 1 0 0 COL4A3 1285 broad.mit.edu 37 2 228113232 228113232 + Missense_Mutation SNP C C A TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr2:228113232C>A ENST00000396578.3 + 9 704 c.542C>A c.(541-543)cCc>cAc p.P181H AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000606119.1_RNA|AC097662.2_ENST00000396588.2_RNA NM_000091.4 NP_000082.2 Q01955 CO4A3_HUMAN collagen, type IV, alpha 3 (Goodpasture antigen) 181 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) GCTCCAGGACCCCAGGTACAG 0.463000 16 25 3.52763e-06 3.69748e-06 1 1 0 NAV3 89795 broad.mit.edu 37 12 78582523 78582523 + Silent SNP T T G TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr12:78582523T>G ENST00000397909.2 + 33 6194 c.6021T>G c.(6019-6021)gtT>gtG p.V2007V NAV3_ENST00000266692.7_Silent_p.V1808V|NAV3_ENST00000536525.2_Silent_p.V1985V|NAV3_ENST00000552300.1_Intron|NAV3_ENST00000228327.6_Silent_p.V1985V Q8IVL0 NAV3_HUMAN neuron navigator 3 2007 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 GATACCTTGTTGGAGATAATA 0.398000 HNSCC(70;0.22) 5 182 0 0 1 0 0 IL7R 3575 broad.mit.edu 37 5 35876144 35876144 + Missense_Mutation SNP T T A TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr5:35876144T>A ENST00000303115.3 + 8 1065 c.936T>A c.(934-936)gaT>gaA p.D312E IL7R_ENST00000343305.4_3'UTR NM_002185.3 NP_002176.2 P16871 IL7RA_HUMAN interleukin 7 receptor 312 immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3) 126 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) ATAGGGTGGATGACATTCAAG 0.433000 """Mis, O""" """ALL, ETP ALL""" Severe combined immune deficiency 9 44 0 0 1 0 0 SBF1 6305 broad.mit.edu 37 22 50899676 50899676 + Missense_Mutation SNP G G A TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr22:50899676G>A ENST00000380817.3 - 23 3062 c.2879C>T c.(2878-2880)gCg>gTg p.A960V SBF1_ENST00000348911.6_Missense_Mutation_p.A961V|SBF1_ENST00000390679.3_Missense_Mutation_p.A960V NM_002972.2 NP_002963.2 O95248 MTMR5_HUMAN SET binding factor 1 GRAM. protein dephosphorylation integral to membrane|nucleus protein tyrosine/serine/threonine phosphatase activity breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 43 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247) CTTGGTCAGCGCAGCCACCGG 0.657000 20 13 0 0 1 0 0 RNASET2 8635 broad.mit.edu 37 6 167343133 167343133 + Silent SNP C C G TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr6:167343133C>G ENST00000366855.6 - 10 1275 c.600G>C c.(598-600)ctG>ctC p.L200L RNASET2_ENST00000508775.1_Silent_p.L238L|RP11-514O12.4_ENST00000507747.1_Intron|RNASET2_ENST00000476238.2_Silent_p.L238L O00584 RNT2_HUMAN ribonuclease T2 238 RNA catabolic process extracellular region ribonuclease T2 activity|RNA binding large_intestine(4)|lung(4) 8 Breast(66;1.53e-05)|Ovarian(120;0.0606) OV - Ovarian serous cystadenocarcinoma(33;1.53e-19)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00665) CACAGACTCTCAGACCCCGGC 0.537000 63 285 0 0 1 0 0 TNIP3 79931 broad.mit.edu 37 4 122085262 122085262 + Missense_Mutation SNP C C A TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr4:122085262C>A ENST00000454328.1 - 3 246 c.19G>T c.(19-21)Ggc>Tgc p.G7C TNIP3_ENST00000057513.3_Missense_Mutation_p.G7C|TNIP3_ENST00000509841.1_Missense_Mutation_p.G84C|TNIP3_ENST00000507879.1_Missense_Mutation_p.G77C Q96KP6 TNIP3_HUMAN TNFAIP3 interacting protein 3 7 NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2) 24 CTAGATGTGCCCTGTACAAAA 0.408000 12 47 7.93312e-07 8.47197e-07 1 1 0 ANKRD34A 284615 broad.mit.edu 37 1 145474702 145474702 + Silent SNP G G A TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr1:145474702G>A ENST00000323397.4 + 4 2667 c.1374G>A c.(1372-1374)gcG>gcA p.A458A NM_001039888.2 NP_001034977.1 Q69YU3 AN34A_HUMAN ankyrin repeat domain 34A 458 Pro-rich. endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 20 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) ATGCCGGGGCGCCAGGCTCTC 0.652000 31 41 0 0 1 0 0 SH3BP4 23677 broad.mit.edu 37 2 235950598 235950598 + Missense_Mutation SNP G G A TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr2:235950598G>A ENST00000409212.1 + 4 1692 c.1185G>A c.(1183-1185)atG>atA p.M395I SH3BP4_ENST00000344528.4_Missense_Mutation_p.M395I|SH3BP4_ENST00000392011.2_Missense_Mutation_p.M395I Q9P0V3 SH3B4_HUMAN SH3-domain binding protein 4 395 endocytosis clathrin-coated vesicle|coated pit|nucleus protein binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2) 44 Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419) Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237) TCTTGGAGATGAAAGTGTCAG 0.537000 33 39 0 0 1 0 0 SUGP2 10147 broad.mit.edu 37 19 19136927 19136927 + Missense_Mutation SNP C C T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr19:19136927C>T ENST00000601879.1 - 3 527 c.230G>A c.(229-231)aGa>aAa p.R77K SUGP2_ENST00000452918.2_Missense_Mutation_p.R77K|SUGP2_ENST00000598202.1_5'UTR|SUGP2_ENST00000600377.1_Missense_Mutation_p.R91K|SUGP2_ENST00000456085.2_5'UTR|SUGP2_ENST00000337018.6_Missense_Mutation_p.R77K Q8IX01 SUGP2_HUMAN SURP and G patch domain containing 2 77 mRNA processing|RNA splicing nucleus RNA binding NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 CAGGCCTTCTCTTCCGGCATC 0.517000 14 71 0 0 1 0 0 ZDBF2 57683 broad.mit.edu 37 2 207175585 207175585 + Silent SNP G G A TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr2:207175585G>A ENST00000374423.3 + 5 6719 c.6333G>A c.(6331-6333)ccG>ccA p.P2111P NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 2111 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 TGGCAGTGCCGGCAAGATATG 0.433000 11 54 0 0 1 0 0 MGAT5B 146664 broad.mit.edu 37 17 74921141 74921141 + Missense_Mutation SNP G G C TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr17:74921141G>C ENST00000569840.2 + 9 1693 c.1119G>C c.(1117-1119)caG>caC p.Q373H MGAT5B_ENST00000428789.2_Missense_Mutation_p.Q384H|MGAT5B_ENST00000301618.4_Missense_Mutation_p.Q373H NM_001199172.1 NP_001186101.1 Q3V5L5 MGT5B_HUMAN mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B 373 Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GCCTGCAGCAGATGAAGCGGC 0.632000 48 71 0 0 1 0 0 LOC101243545 101243545 broad.mit.edu 37 3 161147105 161147105 + RNA SNP T T C TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr3:161147105T>C ENST00000473595.1 + 0 1231 RP11-3P17.5_ENST00000602890.1_lincRNA NR_102265.1 CACAAGTGTGTTGTTGTCTTC 0.463000 9 73 0 0 1 0 0 FBN3 84467 broad.mit.edu 37 19 8161843 8161843 + Missense_Mutation SNP C C T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr19:8161843C>T ENST00000600128.1 - 43 5749 c.5335G>A c.(5335-5337)Gac>Aac p.D1779N FBN3_ENST00000601739.1_Missense_Mutation_p.D1779N|FBN3_ENST00000270509.2_Missense_Mutation_p.D1779N Q75N90 FBN3_HUMAN fibrillin 3 1779 EGF-like 27; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 TTGATGCAGTCAGCATTCTGC 0.592000 25 90 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38941541 38941541 + Silent SNP A A T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr6:38941541A>T ENST00000359357.3 + 82 12233 c.11979A>T c.(11977-11979)gtA>gtT p.V3993V DNAH8_ENST00000441566.1_Silent_p.V3957V dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 CTTTCCGAGTATGGATAACTA 0.398000 28 44 0 0 1 0 0 PLCZ1 89869 broad.mit.edu 37 12 18858182 18858182 + Missense_Mutation SNP G G C TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr12:18858182G>C ENST00000447925.2 - 7 1045 c.776C>G c.(775-777)gCa>gGa p.A259G PLCZ1_ENST00000541695.1_Missense_Mutation_p.A124G|PLCZ1_ENST00000538330.1_Missense_Mutation_p.A2G|PLCZ1_ENST00000266505.7_Missense_Mutation_p.A261G|PLCZ1_ENST00000539875.1_Missense_Mutation_p.A68G|PLCZ1_ENST00000542762.1_5'UTR|PLCZ1_ENST00000435379.1_Missense_Mutation_p.A66G NM_033123.3 NP_149114.2 Q86YW0 PLCZ1_HUMAN phospholipase C, zeta 1 261 PI-PLC X-box. intracellular signal transduction|lipid catabolic process|multicellular organismal development nucleus|perinuclear region of cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) CAAATTGTCTGCCATTACTTC 0.398000 15 154 0 0 1 0 0 GABRQ 55879 broad.mit.edu 37 X 151821098 151821098 + Missense_Mutation SNP C C T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chrX:151821098C>T ENST00000370306.2 + 9 1273 c.1253C>T c.(1252-1254)aCg>aTg p.T418M NM_018558.2 NP_061028.3 Q9UN88 GBRT_HUMAN gamma-aminobutyric acid (GABA) A receptor, theta 418 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 52 Acute lymphoblastic leukemia(192;6.56e-05) GGTTCTTTGACGTCCACCTCC 0.637000 29 60 0 0 1 0 0 SRSF8 10929 broad.mit.edu 37 11 94801096 94801096 + RNA SNP C C A TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr11:94801096C>A ENST00000529911.1 + 0 736 NM_032102.3 NP_115285.1 Q9BRL6 SRSF8_HUMAN serine/arginine-rich splicing factor 8 mRNA processing|RNA splicing nucleus nucleotide binding|RNA binding AAGTCCTCCTCGGTCTCCAGG 0.577000 35 43 2.20262e-25 2.48343e-25 1 1 0 ITPKB 3707 broad.mit.edu 37 1 226829730 226829730 + Silent SNP G G A TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr1:226829730G>A ENST00000429204.1 - 5 2670 c.2343C>T c.(2341-2343)ccC>ccT p.P781P ITPKB_ENST00000272117.3_Silent_p.P781P NM_002221.3 NP_002212.3 P27987 IP3KB_HUMAN inositol-trisphosphate 3-kinase B 781 ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1) 30 Prostate(94;0.0773) CCTCCTCGGTGGGGGCCTCGG 0.632000 150 118 0 0 1 0 0 RAVER1 125950 broad.mit.edu 37 19 10431424 10431424 + Missense_Mutation SNP G G C TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr19:10431424G>C ENST00000293677.6 - 9 1809 c.1728C>G c.(1726-1728)ttC>ttG p.F576L NM_133452.2 NP_597709.2 Q8IY67 RAVR1_HUMAN ribonucleoprotein, PTB-binding 1 433 cytoplasm|nucleus nucleotide binding|protein binding|RNA binding breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 18 OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06) ACTTGAGCTGGAAGGCTTTGC 0.706000 5 9 0 0 1 0 0 GPR125 166647 broad.mit.edu 37 4 22425867 22425867 + Missense_Mutation SNP G G A TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr4:22425867G>A ENST00000334304.5 - 11 1821 c.1552C>T c.(1552-1554)Ctt>Ttt p.L518F GPR125_ENST00000508133.1_Missense_Mutation_p.L292F|GPR125_ENST00000502482.1_Missense_Mutation_p.L518F|GPR125_ENST00000282943.5_5'UTR NM_145290.3 NP_660333.2 Q8IWK6 GP125_HUMAN G protein-coupled receptor 125 518 neuropeptide signaling pathway integral to membrane G-protein coupled receptor activity breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 56 Breast(46;0.198) ATGCGCTGAAGACACTGCACA 0.473000 17 49 0 0 1 0 0 MGLL 11343 broad.mit.edu 37 3 127454638 127454638 + Missense_Mutation SNP A A T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr3:127454638A>T ENST00000398101.3 - 1 562 c.64T>A c.(64-66)Ttt>Att p.F22I MGLL_ENST00000265052.5_Intron|MGLL_ENST00000398104.1_Intron|MGLL_ENST00000434178.2_Intron|MGLL_ENST00000453507.2_Intron Q99685 MGLL_HUMAN monoglyceride lipase 0 arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process plasma membrane acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2) 6 AAATGTATAAATTCTGGCATT 0.488000 12 102 0 0 1 0 0 NRXN1 9378 broad.mit.edu 37 2 50758469 50758469 + Missense_Mutation SNP G G T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr2:50758469G>T ENST00000404971.1 - 12 3702 c.2363C>A c.(2362-2364)tCc>tAc p.S788Y NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Missense_Mutation_p.S748Y|NRXN1_ENST00000406859.3_Missense_Mutation_p.S748Y|NRXN1_ENST00000405472.3_Missense_Mutation_p.S740Y|NRXN1_ENST00000406316.2_Missense_Mutation_p.S748Y|NRXN1_ENST00000402717.3_Missense_Mutation_p.S740Y NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 748 Laminin G-like 4. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) TGCACGCTGGGATCGGAACCG 0.517000 10 23 0.0809354 0.0815114 1 1 0 FOXE1 2304 broad.mit.edu 37 9 100616370 100616370 + Nonsense_Mutation SNP C C A TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr9:100616370C>A ENST00000375123.3 + 1 835 c.174C>A c.(172-174)taC>taA p.Y58* NM_004473.3 NP_004464.2 O00358 FOXE1_HUMAN forkhead box E1 (thyroid transcription factor 2) 58 cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation transcription factor complex DNA bending activity|double-stranded DNA binding|promoter 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 central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1) 5 Acute lymphoblastic leukemia(62;0.158) CCTACAGCTACATCGCGCTCA 0.756000 5 21 0.000602214 0.000615259 1 1 0 HIP1 3092 broad.mit.edu 37 7 75187038 75187038 + Nonsense_Mutation SNP G G A TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr7:75187038G>A ENST00000336926.6 - 16 1527 c.1501C>T c.(1501-1503)Caa>Taa p.Q501* HIP1_ENST00000434438.2_Nonsense_Mutation_p.Q501* NM_005338.5 NP_005329.3 O00291 HIP1_HUMAN huntingtin interacting protein 1 501 activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 ACCTGGGCTTGTCTGGCCATG 0.532000 T PDGFRB CMML 53 102 0 0 1 0 0 AMDHD2 51005 broad.mit.edu 37 16 2578324 2578324 + Missense_Mutation SNP G G C TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr16:2578324G>C ENST00000302956.4 + 7 899 c.805G>C c.(805-807)Gat>Cat p.D269H CEMP1_ENST00000382350.1_Intron|AMDHD2_ENST00000293971.6_Missense_Mutation_p.D269H|AMDHD2_ENST00000413459.3_Missense_Mutation_p.D269H|AMDHD2_ENST00000565570.1_Intron Q9Y303 NAGA_HUMAN amidohydrolase domain containing 2 269 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 GATGATTGCAGATGGCACGCA 0.687000 41 59 0 0 1 0 0 NUP210P1 255330 broad.mit.edu 37 3 126386070 126386070 + RNA SNP A A G TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr3:126386070A>G ENST00000357061.3 + 0 522 NR_034158.1 ATGTCCATCTATATCACCTGG 0.587000 26 49 0 0 1 0 0 VPS52 6293 broad.mit.edu 37 6 33236822 33236822 + Missense_Mutation SNP C C G TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr6:33236822C>G ENST00000445902.2 - 6 735 c.517G>C c.(517-519)Gat>Cat p.D173H VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000436044.2_Missense_Mutation_p.D48H|VPS52_ENST00000478934.1_5'UTR NM_022553.4 NP_072047.4 Q8N1B4 VPS52_HUMAN vacuolar protein sorting 52 homolog (S. cerevisiae) 173 protein transport endosome membrane|Golgi apparatus endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1) 28 ACCAGACCATCAACAAGCTCC 0.532000 24 140 0 0 1 0 0 NCOR1 9611 broad.mit.edu 37 17 15952194 15952194 + Silent SNP G G A TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr17:15952194G>A ENST00000268712.3 - 41 6758 c.6501C>T c.(6499-6501)ctC>ctT p.L2167L NCOR1_ENST00000395851.1_Silent_p.L2064L|NCOR1_ENST00000395857.3_Silent_p.L751L NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 2167 Interaction with C1D (By similarity). cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) TCTGAGACAAGAGCAGCAAGC 0.552000 25 41 0 0 1 0 0 COL4A5 1287 broad.mit.edu 37 X 107840708 107840708 + Silent SNP G G A TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chrX:107840708G>A ENST00000328300.6 + 24 1933 c.1689G>A c.(1687-1689)ttG>ttA p.L563L COL4A5_ENST00000361603.2_Silent_p.L563L NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 563 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 AAGGAGAGTTGGGTTCCCCTG 0.557000 Alport syndrome with Diffuse Leiomyomatosis 22 14 0 0 1 0 0 MYH9 4627 broad.mit.edu 37 22 36681343 36681343 + Missense_Mutation SNP C C A TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr22:36681343C>A ENST00000216181.5 - 38 5537 c.5307G>T c.(5305-5307)gaG>gaT p.E1769D MYH9_ENST00000475726.1_5'UTR NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 1769 actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 CGTGGCTGCGCTCCAGGTTCA 0.612000 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 42 89 9.39024e-22 1.05037e-21 1 1 0 TSSC2 650368 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 4 59 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152326143 152326143 + Silent SNP A A T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr1:152326143A>T ENST00000388718.5 - 3 4191 c.4119T>A c.(4117-4119)gcT>gcA p.A1373A FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1373 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) GTTGAGATCCAGCTTGGCTGT 0.493000 171 375 0 0 1 0 0 CCKBR 887 broad.mit.edu 37 11 6292065 6292065 + Silent SNP C C A rs1800843 by1000genomes TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr11:6292065C>A ENST00000525462.1 + 4 846 c.843C>A c.(841-843)ggC>ggA p.G281G CCKBR_ENST00000334619.2_Intron|CCKBR_ENST00000532715.1_Intron|CCKBR_ENST00000532396.1_Intron P32239 GASR_HUMAN cholecystokinin B receptor 241 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception 1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139) Pentagastrin(DB00183) AAAATCTGGGCGAGGCGGAGC 0.622000 11 24 1.58986e-06 1.68514e-06 1 1 0 UNC93A 54346 broad.mit.edu 37 6 167704998 167704998 + Silent SNP C C T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr6:167704998C>T ENST00000230256.3 + 1 196 c.21C>T c.(19-21)aaC>aaT p.N7N UNC93A_ENST00000366829.2_Silent_p.N7N|UNC93A_ENST00000366830.2_3'UTR NM_018974.3 NP_061847.2 Q86WB7 UN93A_HUMAN unc-93 homolog A (C. elegans) 7 integral to membrane|plasma membrane breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 40 Breast(66;7.62e-05)|Ovarian(120;0.105) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) GTCTAAGGAACGTCCTTGTGG 0.448000 19 70 0 0 1 0 0 SPG20 23111 broad.mit.edu 37 13 36903500 36903500 + Splice_Site SNP C C T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr13:36903500C>T ENST00000451493.1 - 4 1380 c.1163G>A c.(1162-1164)aGg>aAg p.R388K SPG20_ENST00000438666.2_Splice_Site_p.R388K|SPG20_ENST00000355182.4_Splice_Site_p.R388K|SPG20_ENST00000495510.1_5'UTR|SPG20_ENST00000494062.2_Splice_Site_p.R388K NM_001142295.1 NP_001135767.1 Q8N0X7 SPG20_HUMAN spastic paraplegia 20 (Troyer syndrome) 388 cell death cytoplasm ubiquitin protein ligase binding breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 27 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026) TTTATTTACCCTTTTTCCACG 0.378000 26 128 0 0 1 0 0 SUPT3H 8464 broad.mit.edu 37 6 45073659 45073659 + Splice_Site SNP C C A TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr6:45073659C>A ENST00000371460.1 - 5 536 c.219G>T c.(217-219)ctG>ctT p.L73L SUPT3H_ENST00000371459.1_Splice_Site_p.L62L|SUPT3H_ENST00000371461.2_Splice_Site_p.L73L|SUPT3H_ENST00000306867.5_Splice_Site_p.L62L NM_181356.2 NP_852001.1 O75486 SUPT3_HUMAN suppressor of Ty 3 homolog (S. cerevisiae) 144 histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent STAGA complex|transcription factor TFTC complex DNA binding|transcription coactivator activity breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1) 12 ATGCTCTTACCAGATTAATTA 0.328000 9 59 0.00448238 0.00454664 1 1 0 FAM178A 55719 broad.mit.edu 37 10 102683740 102683740 + Missense_Mutation SNP A A C TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr10:102683740A>C ENST00000238961.4 + 5 1524 c.982A>C c.(982-984)Aag>Cag p.K328Q FAM178A_ENST00000370269.3_Missense_Mutation_p.K328Q|FAM178A_ENST00000370271.3_Missense_Mutation_p.K328Q NM_018121.3 NP_060591.3 Q8IX21 F178A_HUMAN family with sequence similarity 178, member A AGCAGGCTCTAAGCAGAATAA 0.328000 3 32 0 0 1 0 0 APLP1 333 broad.mit.edu 37 19 36369507 36369507 + Missense_Mutation SNP C C A TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr19:36369507C>A ENST00000221891.4 + 14 1793 c.1601C>A c.(1600-1602)gCa>gAa p.A534E APLP1_ENST00000537454.2_Missense_Mutation_p.A494E|APLP1_ENST00000586861.1_Missense_Mutation_p.A527E NM_001024807.1|NM_005166.3 NP_001019978.1|NP_005157.1 P51693 APLP1_HUMAN amyloid beta (A4) precursor-like protein 1 533 apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 33 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CAAGATGCTGCATCCCCTGAG 0.493000 15 63 1.15088e-07 1.24312e-07 1 1 0 GPR4 2828 broad.mit.edu 37 19 46095008 46095008 + Silent SNP C C T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr19:46095008C>T ENST00000323040.4 - 2 1061 c.117G>A c.(115-117)ctG>ctA p.L39L OPA3_ENST00000544371.1_Intron NM_005282.2 NP_005273.1 P46093 GPR4_HUMAN G protein-coupled receptor 4 39 integral to plasma membrane G-protein coupled receptor activity breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223) AGGCCGCCCACAGAGCCAGGC 0.647000 40 78 0 0 1 0 0 DGKH 160851 broad.mit.edu 37 13 42739569 42739569 + Splice_Site SNP G G T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr13:42739569G>T ENST00000261491.5 + 8 979 c.958G>T c.(958-960)Ggt>Tgt p.G320C DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000536612.1_Splice_Site_p.G184C|DGKH_ENST00000337343.4_Splice_Site_p.G320C|DGKH_ENST00000540693.1_Splice_Site_p.G320C|DGKH_ENST00000379274.2_Splice_Site_p.G184C|DGKH_ENST00000538674.1_Splice_Site_p.G75C NM_152910.4 NP_690874.2 Q86XP1 DGKH_HUMAN diacylglycerol kinase, eta activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization endosome|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109) CGATTCCGATGGTATGTAGCA 0.333000 13 43 4.3838e-07 4.6993e-07 1 1 0 HUNK 30811 broad.mit.edu 37 21 33297040 33297040 + Silent SNP A A T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr21:33297040A>T ENST00000270112.2 + 2 882 c.522A>T c.(520-522)gtA>gtT p.V174V NM_014586.1 NP_055401.1 P57058 HUNK_HUMAN hormonally up-regulated Neu-associated kinase 174 Protein kinase. multicellular organismal development|signal transduction ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1) 30 TCTCTGCCGTAGAGCACCTGC 0.637000 29 178 0 0 1 0 0 SLC17A3 10786 broad.mit.edu 37 6 25845528 25845528 + Splice_Site SNP T T C TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr6:25845528T>C ENST00000397060.4 - 13 1609 c.e13-2 SLC17A3_ENST00000361703.6_Splice_Site|SLC17A3_ENST00000360657.3_Splice_Site NM_001098486.1 NP_001091956.1 O00476 NPT4_HUMAN solute carrier family 17 (organic anion transporter), member 3 glucose-6-phosphate transport|urate metabolic process apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1) 20 GTGGGATAACTAAGAAAGGAA 0.338000 19 22 0 0 1 0 0 KMT2A 4297 broad.mit.edu 37 11 118348833 118348833 + Missense_Mutation SNP G G C TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr11:118348833G>C ENST00000534358.1 + 5 3509 c.3486G>C c.(3484-3486)caG>caC p.Q1162H KMT2A_ENST00000389506.5_Missense_Mutation_p.Q1162H|KMT2A_ENST00000354520.4_Missense_Mutation_p.Q1162H NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A CCGGCTGCCAGGTGCCTGAGG 0.498000 41 202 0 0 1 0 0 MOGAT2 80168 broad.mit.edu 37 11 75439859 75439859 + Silent SNP C C A TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr11:75439859C>A ENST00000526712.1 + 4 1202 c.429C>A c.(427-429)tcC>tcA p.S143S MOGAT2_ENST00000198801.5_Silent_p.S225S Q3SYC2 MOGT2_HUMAN monoacylglycerol O-acyltransferase 2 225 glycerol metabolic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 20 Ovarian(111;0.103) CAATCTTCTCCTTCGGGGAGA 0.537000 10 62 1.58986e-06 1.68514e-06 1 1 0 CXorf48 54967 broad.mit.edu 37 X 134294477 134294477 + Missense_Mutation SNP C C A TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chrX:134294477C>A ENST00000344129.2 - 3 509 c.283G>T c.(283-285)Gat>Tat p.D95Y CXorf48_ENST00000276241.6_Missense_Mutation_p.D95Y NM_017863.2 NP_060333.1 Q8WUE5 CX048_HUMAN chromosome X open reading frame 48 95 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3) 5 Acute lymphoblastic leukemia(192;0.000127) GGCACAACATCCACCTGTAAG 0.313000 6 14 2.0095e-06 2.12197e-06 1 1 0 PYGO1 26108 broad.mit.edu 37 15 55839210 55839210 + Missense_Mutation SNP G G C TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr15:55839210G>C ENST00000302000.6 - 3 365 c.271C>G c.(271-273)Ctt>Gtt p.L91V PYGO1_ENST00000563719.1_Missense_Mutation_p.L91V NM_015617.1 NP_056432.1 Q9Y3Y4 PYGO1_HUMAN pygopus family PHD finger 1 91 Pro-rich. Wnt receptor signaling pathway nucleus zinc ion binding endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 27 all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18) CCAGGGCCAAGATATGGATTT 0.443000 33 66 0 0 1 0 0 CCKBR 887 broad.mit.edu 37 11 6292053 6292053 + Missense_Mutation SNP G G C TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr11:6292053G>C ENST00000525462.1 + 4 834 c.831G>C c.(829-831)gaG>gaC p.E277D CCKBR_ENST00000334619.2_Intron|CCKBR_ENST00000532715.1_Intron|CCKBR_ENST00000532396.1_Intron P32239 GASR_HUMAN cholecystokinin B receptor 237 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception 1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139) Pentagastrin(DB00183) GACCACGTGAGCAAAATCTGG 0.607000 11 23 0 0 1 0 0 PLEKHF2 79666 broad.mit.edu 37 8 96166657 96166657 + Missense_Mutation SNP T T C TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr8:96166657T>C ENST00000315367.3 + 2 626 c.385T>C c.(385-387)Tgt>Cgt p.C129R PLEKHF2_ENST00000519516.1_Missense_Mutation_p.C129R NM_024613.3 NP_078889.1 Q9H8W4 PKHF2_HUMAN pleckstrin homology domain containing, family F (with FYVE domain) member 2 129 PH. transport vesicle metal ion binding|protein binding breast(1)|large_intestine(1)|lung(1)|ovary(2) 5 Breast(36;3.18e-05) TATAAATAAATGTGTTACTGA 0.408000 93 92 0 0 1 0 0 IGHG3 3502 broad.mit.edu 37 14 106235604 106235604 + RNA SNP C C T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr14:106235604C>T ENST00000390551.2 - 0 1102 AGAGGCTCTTCTGCGTGAAGC 0.637000 58 87 0 0 1 0 0 NR0B2 8431 broad.mit.edu 37 1 27240326 27240326 + Missense_Mutation SNP G G A TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr1:27240326G>A ENST00000254227.3 - 1 131 c.106C>T c.(106-108)Cgt>Tgt p.R36C NM_021969.2 NP_068804.1 Q15466 NR0B2_HUMAN nuclear receptor subfamily 0, group B, member 2 36 cholesterol metabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm DNA binding|protein domain specific binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity NS(1)|large_intestine(1)|lung(3) 5 all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.01e-51)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419) CAGCGGCTACGGGGTCGGGGG 0.657000 35 68 0 0 1 0 0 RAI2 10742 broad.mit.edu 37 X 17819601 17819601 + Missense_Mutation SNP G G A TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chrX:17819601G>A ENST00000545871.1 - 3 990 c.530C>T c.(529-531)cCg>cTg p.P177L RAI2_ENST00000451717.1_Missense_Mutation_p.P177L|RAI2_ENST00000415486.3_Missense_Mutation_p.P127L|RAI2_ENST00000360011.1_Missense_Mutation_p.P177L|RAI2_ENST00000331511.1_Missense_Mutation_p.P177L NM_001172739.1|NM_001172743.1 NP_001166210|NP_001166214 Q9Y5P3 RAI2_HUMAN retinoic acid induced 2 177 embryo development breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1) 22 Hepatocellular(33;0.183) GGGCTCCTGCGGCTGGCTGGG 0.642000 30 52 0 0 1 0 0 ATAD2 29028 broad.mit.edu 37 8 124340703 124340703 + Missense_Mutation SNP C C T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr8:124340703C>T ENST00000287394.5 - 25 3702 c.3595G>A c.(3595-3597)Gag>Aag p.E1199K ATAD2_ENST00000521903.1_Missense_Mutation_p.E517K NM_014109.3 NP_054828.2 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 1199 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) GTATCACTCTCAATTTTGTGA 0.398000 28 124 0 0 1 0 0 LCT 3938 broad.mit.edu 37 2 136575148 136575148 + Silent SNP C C T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr2:136575148C>T ENST00000264162.2 - 6 1480 c.1470G>A c.(1468-1470)gaG>gaA p.E490E NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 490 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity p.E490D(1) breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) TGGCCATGGGCTCGATGCCCG 0.627000 14 53 0 0 1 0 0 KCNS2 3788 broad.mit.edu 37 8 99440702 99440702 + Silent SNP C C A TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr8:99440702C>A ENST00000287042.4 + 2 845 c.495C>A c.(493-495)ccC>ccA p.P165P KCNS2_ENST00000521839.1_Silent_p.P165P NM_020697.2 NP_065748.1 Q9ULS6 KCNS2_HUMAN potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2 165 voltage-gated potassium channel complex voltage-gated potassium channel activity autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 31 Breast(36;2.4e-06) OV - Ovarian serous cystadenocarcinoma(57;0.0448) ATGGGCAGCCCCTCGGCAACT 0.602000 6 81 8.12818e-05 8.42592e-05 1 1 0 OR4M2 390538 broad.mit.edu 37 15 22369285 22369285 + Missense_Mutation SNP G G T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr15:22369285G>T ENST00000332663.2 + 1 808 c.710G>T c.(709-711)aGg>aTg p.R237M RP11-69H14.6_ENST00000558896.1_RNA NM_001004719.2 NP_001004719.2 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, member 2 237 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 63 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) AATACCAACAGGGCCATGTCC 0.463000 46 319 3.10996e-30 3.54887e-30 1 1 0 SLCO1C1 53919 broad.mit.edu 37 12 20885908 20885908 + Silent SNP A A C TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr12:20885908A>C ENST00000381552.1 + 10 1620 c.1252A>C c.(1252-1254)Aga>Cga p.R418R SLCO1C1_ENST00000545102.1_Silent_p.R300R|SLCO1C1_ENST00000266509.2_Silent_p.R418R|SLCO1C1_ENST00000540354.1_Silent_p.R369R|SLCO1C1_ENST00000545604.1_Silent_p.R418R Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, member 1C1 418 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 60 Esophageal squamous(101;0.149) GAAAAAATTCAGAATCAGTGT 0.408000 17 110 0 0 1 0 0 NAV2 89797 broad.mit.edu 37 11 20112542 20112542 + Missense_Mutation SNP G G T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr11:20112542G>T ENST00000396085.1 + 28 6000 c.5639G>T c.(5638-5640)cGg>cTg p.R1880L NAV2_ENST00000540292.1_Missense_Mutation_p.R1867L|NAV2_ENST00000360655.4_Missense_Mutation_p.R1813L|NAV2_ENST00000396087.3_Missense_Mutation_p.R1936L|NAV2_ENST00000311043.8_Missense_Mutation_p.R941L|NAV2_ENST00000533917.1_Missense_Mutation_p.R941L|NAV2_ENST00000349880.4_Missense_Mutation_p.R1877L|NAV2_ENST00000527559.2_Missense_Mutation_p.R1865L NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 1936 nucleus ATP binding|helicase activity p.R1936Q(1) NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 GACCAGCTCCGGGAGGCCATG 0.567000 12 33 6.49762e-13 7.07241e-13 1 1 0 FKBPL 63943 broad.mit.edu 37 6 32096866 32096866 + Missense_Mutation SNP C C T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr6:32096866C>T ENST00000375156.3 - 2 962 c.692G>A c.(691-693)cGa>cAa p.R231Q NM_022110.3 NP_071393.2 Q9UIM3 FKBPL_HUMAN FK506 binding protein like 231 response to radiation membrane|nucleus FK506 binding|peptidyl-prolyl cis-trans isomerase activity p.R231Q(1) TCCATAGCATCGGGCAGCTCC 0.587000 55 81 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179498207 179498207 + Silent SNP A A T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr2:179498207A>T ENST00000589042.1 - 232 43103 c.42879T>A c.(42877-42879)ctT>ctA p.L14293L TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Silent_p.L11725L|TTN_ENST00000342175.6_Silent_p.L5420L|TTN_ENST00000591111.1_Silent_p.L12652L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.L5353L|TTN_ENST00000460472.2_Silent_p.L5228L|TTN-AS1_ENST00000589830.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 12652 Fibronectin type-III 3. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTTTATCTTTAAGGTCCGCCT 0.418000 16 39 0 0 1 0 0 OSGEPL1 64172 broad.mit.edu 37 2 190615371 190615371 + Missense_Mutation SNP C C G TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr2:190615371C>G ENST00000264151.5 - 8 1280 c.1178G>C c.(1177-1179)gGa>gCa p.G393A OSGEPL1_ENST00000522700.1_Missense_Mutation_p.G393A|OSGEPL1_ENST00000519810.1_3'UTR NM_022353.2 NP_071748.2 Q9H4B0 OSGP2_HUMAN O-sialoglycoprotein endopeptidase-like 1 393 proteolysis|tRNA processing metalloendopeptidase activity large_intestine(2)|upper_aerodigestive_tract(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0293)|all cancers(119;0.0831) TATGTCTACTCCAAGAGGACA 0.343000 3 5 0 0 1 0 0 AATK 9625 broad.mit.edu 37 17 79095819 79095819 + Missense_Mutation SNP G G C TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr17:79095819G>C ENST00000326724.4 - 11 1941 c.1917C>G c.(1915-1917)ttC>ttG p.F639L AATK_ENST00000417379.1_Missense_Mutation_p.F536L NM_001080395.2 NP_001073864.2 Q6ZMQ8 LMTK1_HUMAN apoptosis-associated tyrosine kinase 639 integral to membrane|mitochondrion|perinuclear region of cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1) 21 all_neural(118;0.101) BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524) GTGGGTCCTCGAAGAAGGCAG 0.721000 13 31 0 0 1 0 0 OR5D14 219436 broad.mit.edu 37 11 55563189 55563189 + Missense_Mutation SNP T T C TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr11:55563189T>C ENST00000335605.1 + 1 158 c.158T>C c.(157-159)aTt>aCt p.I53T NM_001004735.1 NP_001004735.1 Q8NGL3 OR5DE_HUMAN olfactory receptor, family 5, subfamily D, member 14 53 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1) 48 all_epithelial(135;0.196) ATAATCAAGATTAACCCCAAA 0.388000 15 65 0 0 1 0 0 SCN11A 11280 broad.mit.edu 37 3 38950677 38950677 + Silent SNP A A T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr3:38950677A>T ENST00000450244.1 - 9 1308 c.1110T>A c.(1108-1110)cgT>cgA p.R370R SCN11A_ENST00000456224.3_Silent_p.R370R|SCN11A_ENST00000444237.2_Silent_p.R370R|SCN11A_ENST00000302328.3_Silent_p.R370R Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 370 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) GCCCAGTAGTACGCAGGGTCT 0.453000 47 76 0 0 1 0 0 PRPF3 9129 broad.mit.edu 37 1 150305477 150305477 + Missense_Mutation SNP G G A TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr1:150305477G>A ENST00000324862.6 + 6 700 c.535G>A c.(535-537)Gaa>Aaa p.E179K PRPF3_ENST00000543398.1_Missense_Mutation_p.E44K|PRPF3_ENST00000467329.1_3'UTR|PRPF3_ENST00000414970.2_Missense_Mutation_p.E130K NM_004698.2 NP_004689.1 O43395 PRPF3_HUMAN pre-mRNA processing factor 3 179 nuclear mRNA splicing, via spliceosome Cajal body|cytoplasm|nuclear speck|spliceosomal complex protein binding breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) Colorectal(1306;0.0149) CTCCCAACCAGAACGACTTCC 0.453000 41 66 0 0 1 0 0 ERBB4 2066 broad.mit.edu 37 2 212522505 212522505 + Silent SNP G G T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr2:212522505G>T ENST00000342788.4 - 16 2230 c.1920C>A c.(1918-1920)ggC>ggA p.G640G ERBB4_ENST00000436443.1_Silent_p.G640G|ERBB4_ENST00000402597.1_Intron NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 640 cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) AAGTGGAATGGCCCGTCCATG 0.428000 TSP Lung(8;0.080) 36 50 1.36161e-19 1.51113e-19 1 1 0 SOX1 6656 broad.mit.edu 37 13 112722046 112722046 + Missense_Mutation SNP C C G TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr13:112722046C>G ENST00000330949.1 + 1 134 c.74C>G c.(73-75)cCc>cGc p.P25R NM_005986.2 NP_005977.2 O00570 SOX1_HUMAN SRY (sex determining region Y)-box 1 25 chromatin organization nucleus core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity lung(4) 4 all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231) OV - Ovarian serous cystadenocarcinoma(48;0.132) CTCTCGGGCCCCGCCGGGGCg 0.776000 5 6 0 0 1 0 0 AASDH 132949 broad.mit.edu 37 4 57221467 57221467 + Silent SNP G G A TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr4:57221467G>A ENST00000205214.6 - 6 1164 c.984C>T c.(982-984)ctC>ctT p.L328L AASDH_ENST00000434343.2_5'UTR|AASDH_ENST00000502617.1_Silent_p.L328L|AASDH_ENST00000510762.1_5'UTR|AASDH_ENST00000602986.1_Silent_p.L175L|AASDH_ENST00000513376.1_Silent_p.L228L|AASDH_ENST00000451613.1_Silent_p.L328L NM_181806.2 NP_861522.2 Q4L235 ACSF4_HUMAN aminoadipate-semialdehyde dehydrogenase 328 fatty acid metabolic process acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 40 Glioma(25;0.08)|all_neural(26;0.101) all_hematologic(202;0.0017) TCCAGCTTCTGAGAACTGTCA 0.408000 25 62 0 0 1 0 0 CTNND2 1501 broad.mit.edu 37 5 11346614 11346614 + Missense_Mutation SNP C C T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr5:11346614C>T ENST00000304623.8 - 9 1687 c.1498G>A c.(1498-1500)Gcg>Acg p.A500T CTNND2_ENST00000511377.1_Missense_Mutation_p.A409T|CTNND2_ENST00000503622.1_Missense_Mutation_p.A163T|CTNND2_ENST00000359640.2_Missense_Mutation_p.A500T|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Missense_Mutation_p.A67T NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 500 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 TAGGGGTCCGCGTAATTGGAG 0.662000 28 118 0 0 1 0 0 HERC2P2 400322 broad.mit.edu 37 15 23318694 23318694 + RNA SNP C C T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr15:23318694C>T ENST00000560464.1 - 0 2389 TCTTCCTCAACGCTGTCACAA 0.488000 22 117 0 0 1 0 0 HYAL3 8372 broad.mit.edu 37 3 50331102 50331102 + Silent SNP G G A TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr3:50331102G>A ENST00000336307.1 - 3 1217 c.945C>T c.(943-945)ggC>ggT p.G315G HYAL3_ENST00000359051.3_Intron|HYAL3_ENST00000450982.1_Intron|HYAL3_ENST00000513170.1_Intron|HYAL3_ENST00000415204.1_Silent_p.G66G NM_001200029.1|NM_003549.3 NP_001186958.1|NP_003540.2 O43820 HYAL3_HUMAN hyaluronoglucosaminidase 3 315 carbohydrate metabolic process extracellular region|lysosome hyalurononglucosaminidase activity central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) AGAGCACCACGCCGGCTGCCC 0.627000 21 74 0 0 1 0 0 ELP4 26610 broad.mit.edu 37 11 31616365 31616365 + Missense_Mutation SNP G G A TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr11:31616365G>A ENST00000395934.2 + 4 437 c.430G>A c.(430-432)Gaa>Aaa p.E144K ELP4_ENST00000379163.5_Missense_Mutation_p.E144K|ELP4_ENST00000350638.5_Missense_Mutation_p.E144K Q96EB1 ELP4_HUMAN elongator acetyltransferase complex subunit 4 144 histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3) 20 Lung SC(675;0.225) GGAATTTGATGAAGATGTATA 0.308000 7 49 0 0 1 0 0 MYH7B 57644 broad.mit.edu 37 20 33588234 33588234 + Silent SNP C C T rs143766988 by1000genomes TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr20:33588234C>T ENST00000262873.7 + 37 5138 c.5046C>T c.(5044-5046)acC>acT p.T1682T NM_020884.3 NP_065935.2 A7E2Y1 MYH7B_HUMAN myosin, heavy chain 7B, cardiac muscle, beta 1640 membrane|myosin filament actin binding|ATP binding|motor activity NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 BRCA - Breast invasive adenocarcinoma(18;0.00691) GCCATGCCACCCGTCAGGCCA 0.677000 23 63 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151949141 151949141 + Missense_Mutation SNP G G T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr7:151949141G>T ENST00000355193.2 - 11 1722 c.1504C>A c.(1504-1506)Cat>Aat p.H502N KMT2C_ENST00000262189.6_Missense_Mutation_p.H502N lysine (K)-specific methyltransferase 2C TCCAGTTCATGATCTGTTGGT 0.398000 8 4 1.12685e-05 1.17242e-05 1 1 0 XPO7 23039 broad.mit.edu 37 8 21848377 21848377 + Missense_Mutation SNP G G T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr8:21848377G>T ENST00000434536.1 + 18 2117 c.2015G>T c.(2014-2016)cGg>cTg p.R672L XPO7_ENST00000433566.4_Missense_Mutation_p.R664L|XPO7_ENST00000252512.9_Missense_Mutation_p.R663L Q9UIA9 XPO7_HUMAN exportin 7 663 mRNA transport|protein export from nucleus|transmembrane transport cytoplasm|nuclear pore nuclear export signal receptor activity|protein transporter activity p.R663Q(1) autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724) ACAGACATGCGGTGTCGGACT 0.423000 43 88 1.89013e-27 2.14822e-27 1 1 0 BMS1P20 96610 broad.mit.edu 37 22 22664056 22664056 + RNA SNP T T C rs3178309 TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr22:22664056T>C ENST00000426066.1 + 0 623 NR_027293.1 ATAAAGTATATGATTTTGTGT 0.348000 3 47 0 0 1 0 0 RDH5 5959 broad.mit.edu 37 12 56115489 56115489 + Silent SNP G G A TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr12:56115489G>A ENST00000550412.1 + 4 384 c.368G>A c.(367-369)tGa>tAa p.*123* RP11-644F5.10_ENST00000549424.1_Silent_p.*45*|RDH5_ENST00000548082.1_Silent_p.V109V|RDH5_ENST00000553160.1_Intron|RDH5_ENST00000257895.5_Silent_p.V109V|RDH5_ENST00000547072.1_Silent_p.V12V endometrium(1)|lung(1) 2 TTGGTCTGGTGAATAATGCTG 0.562000 11 47 0 0 1 0 0 NTRK2 4915 broad.mit.edu 37 9 87570363 87570363 + Silent SNP G G A TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr9:87570363G>A ENST00000376214.1 + 19 3041 c.2103G>A c.(2101-2103)ggG>ggA p.G701G NTRK2_ENST00000323115.4_Silent_p.G685G|NTRK2_ENST00000277120.3_Silent_p.G701G|NTRK2_ENST00000376213.1_Silent_p.G685G NM_006180.3 NP_006171.2 Q16620 NTRK2_HUMAN neurotrophic tyrosine kinase, receptor, type 2 685 Protein kinase. activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 46 GCCTGGTCGGGGAGAACTTGC 0.592000 TSP Lung(25;0.17) 6 35 0 0 1 0 0 CNTN1 1272 broad.mit.edu 37 12 41337510 41337510 + Silent SNP A A G TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr12:41337510A>G ENST00000551295.2 + 13 1608 c.1491A>G c.(1489-1491)ggA>ggG p.G497G CNTN1_ENST00000347616.1_Silent_p.G497G|CNTN1_ENST00000348761.2_Silent_p.G486G|CNTN1_ENST00000360099.3_Silent_p.G497G|CNTN1_ENST00000547702.1_Silent_p.G497G|CNTN1_ENST00000547849.1_Silent_p.G497G NM_001843.3 NP_001834.2 Q12860 CNTN1_HUMAN contactin 1 497 Ig-like C2-type 5. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 90 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) ATAGCACTGGAACCCTTGTTA 0.353000 6 40 0 0 1 0 0 NAV3 89795 broad.mit.edu 37 12 78604227 78604227 + Missense_Mutation SNP A A T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr12:78604227A>T ENST00000397909.2 + 40 7261 c.7088A>T c.(7087-7089)cAa>cTa p.Q2363L NAV3_ENST00000266692.7_Missense_Mutation_p.Q2164L|NAV3_ENST00000536525.2_Missense_Mutation_p.Q2341L|NAV3_ENST00000541270.1_Missense_Mutation_p.Q193L|NAV3_ENST00000228327.6_Missense_Mutation_p.Q2341L Q8IVL0 NAV3_HUMAN neuron navigator 3 2363 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 TCGAGCACACAAAGCTGCGAC 0.413000 HNSCC(70;0.22) 14 207 0 0 1 0 0 DGCR14 8220 broad.mit.edu 37 22 19124897 19124897 + Missense_Mutation SNP G G A TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr22:19124897G>A ENST00000252137.6 - 8 1017 c.974C>T c.(973-975)cCc>cTc p.P325L NM_022719.2 NP_073210.1 Q96DF8 DGC14_HUMAN DiGeorge syndrome critical region gene 14 325 nervous system development catalytic step 2 spliceosome breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1) 16 Colorectal(54;0.0993) AACTCTCAAGGGTGTGTTCTC 0.602000 84 104 0 0 1 0 0 LANCL3 347404 broad.mit.edu 37 X 37514951 37514951 + Missense_Mutation SNP C C T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chrX:37514951C>T ENST00000378621.3 + 2 886 c.584C>T c.(583-585)cCa>cTa p.P195L TM4SF2_ENST00000465127.1_Intron|LANCL3_ENST00000378619.3_Missense_Mutation_p.P195L NM_198511.2 NP_940913.1 Q6ZV70 LANC3_HUMAN LanC lantibiotic synthetase component C-like 3 (bacterial) 195 catalytic activity lung(4)|pancreas(1) 5 GTGCTGACTCCAGCACAGATC 0.413000 11 7 0 0 1 0 0 LTBP4 8425 broad.mit.edu 37 19 41105136 41105136 + Missense_Mutation SNP G G A TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr19:41105136G>A ENST00000204005.9 + 2 50 c.50G>A c.(49-51)cGt>cAt p.R17H LTBP4_ENST00000308370.7_Silent_p.T60T|LTBP4_ENST00000545697.1_5'UTR|LTBP4_ENST00000602240.1_3'UTR NM_003573.2 NP_003564.2 Q8N2S1 LTBP4_HUMAN latent transforming growth factor beta binding protein 4 0 growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity central_nervous_system(1) 1 Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384) CGGGCCAGACGTCTAGGAGGA 0.587000 OREG0025473 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 23 0 0 1 0 0 H1FNT 341567 broad.mit.edu 37 12 48723478 48723478 + Missense_Mutation SNP C C T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr12:48723478C>T ENST00000335017.1 + 1 716 c.404C>T c.(403-405)gCg>gTg p.A135V NM_181788.1 NP_861453.1 Q75WM6 H1FNT_HUMAN H1 histone family, member N, testis-specific 135 Arg-rich. chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation nuclear chromatin ATP binding|DNA binding endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 13 CCGGGACGCGCGAGGCAAGAG 0.746000 10 21 0 0 1 0 0 NCKAP5 344148 broad.mit.edu 37 2 133543163 133543163 + Silent SNP C C T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr2:133543163C>T ENST00000409261.1 - 14 1594 c.1221G>A c.(1219-1221)aaG>aaA p.K407K NCKAP5_ENST00000317721.6_Silent_p.K407K|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 407 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 GCTTCTGTAGCTTTCTTAGCC 0.408000 17 49 0 0 1 0 0 GDA 9615 broad.mit.edu 37 9 74842885 74842885 + Silent SNP C C T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr9:74842885C>T ENST00000358399.3 + 9 942 c.849C>T c.(847-849)ctC>ctT p.L283L GDA_ENST00000238018.4_Silent_p.L283L|GDA_ENST00000376986.1_Silent_p.L205L|GDA_ENST00000376989.3_Silent_p.L222L|GDA_ENST00000477618.1_3'UTR|GDA_ENST00000545168.1_Silent_p.L209L NM_001242505.2|NM_001242506.2|NM_004293.4 NP_001229434.1|NP_001229435.1|NP_004284.1 Q9Y2T3 GUAD_HUMAN guanine deaminase 283 nervous system development|purine base metabolic process|purine nucleotide catabolic process cytosol guanine deaminase activity|zinc ion binding central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1) 32 Myeloproliferative disorder(762;0.0122) Lung(182;0.0583) GCTGCTACCTCTCTGCAGAAG 0.448000 12 7 0 0 1 0 0 BTBD8 284697 broad.mit.edu 37 1 92613277 92613277 + Silent SNP G G A TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr1:92613277G>A ENST00000342818.3 + 9 1292 c.1056G>A c.(1054-1056)gaG>gaA p.E352E BTBD8_ENST00000540648.1_3'UTR NM_183242.3 NP_899065.2 Q5XKL5 BTBD8_HUMAN BTB (POZ) domain containing 8 352 nucleus breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1) 16 all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222) all cancers(265;0.0153)|Epithelial(280;0.0982) TTTGGTCTGAGAGAAGCTTTG 0.303000 4 35 0 0 1 0 0 CBX6 23466 broad.mit.edu 37 22 39263132 39263132 + Silent SNP C C T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr22:39263132C>T ENST00000407418.3 - 5 444 c.321G>A c.(319-321)tcG>tcA p.S107S CBX6_ENST00000216083.6_Silent_p.S89S O95503 CBX6_HUMAN chromobox homolog 6 107 chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent PcG protein complex large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 6 Melanoma(58;0.04) GCAGCTTGGGCGAGGAGGCAC 0.716000 6 4 0 0 1 0 0 NXPE2 120406 broad.mit.edu 37 11 114569243 114569243 + Silent SNP C C T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr11:114569243C>T ENST00000375475.5 + 3 707 c.609C>T c.(607-609)ctC>ctT p.L203L NXPE2_ENST00000389586.4_Silent_p.L203L neurexophilin and PC-esterase domain family, member 2 TATCAGCTCTCTGGAGGGCAA 0.532000 5 42 0 0 1 0 0 ABCC5 10057 broad.mit.edu 37 3 183705701 183705701 + Nonsense_Mutation SNP C C A TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr3:183705701C>A ENST00000334444.6 - 5 688 c.448G>T c.(448-450)Gag>Tag p.E150* ABCC5_ENST00000382494.2_Nonsense_Mutation_p.E150*|ABCC5_ENST00000392579.2_Nonsense_Mutation_p.E150*|ABCC5_ENST00000265586.6_Nonsense_Mutation_p.E150*|ABCC5_ENST00000427120.2_Nonsense_Mutation_p.E150* NM_005688.2 NP_005679.2 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 5 150 integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) CACAGTCTCTCTAGTCTTAAC 0.557000 32 74 3.99451e-17 4.39862e-17 1 1 0 SLC6A15 55117 broad.mit.edu 37 12 85255542 85255542 + Missense_Mutation SNP G G C TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr12:85255542G>C ENST00000266682.5 - 12 2603 c.2062C>G c.(2062-2064)Cca>Gca p.P688A SLC6A15_ENST00000552192.1_Missense_Mutation_p.P581A|SLC6A15_ENST00000309283.7_3'UTR NM_182767.5 NP_877499.1 Q9H2J7 S6A15_HUMAN solute carrier family 6 (neutral amino acid transporter), member 15 688 cellular nitrogen compound metabolic process|leucine transport|proline transport integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 44 CCAAAATTTGGAGATGGCATC 0.443000 14 161 0 0 1 0 0 ABCC9 10060 broad.mit.edu 37 12 22068721 22068721 + Missense_Mutation SNP T T C TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr12:22068721T>C ENST00000261200.4 - 5 696 c.697A>G c.(697-699)Aca>Gca p.T233A ABCC9_ENST00000261201.4_Missense_Mutation_p.T233A|ABCC9_ENST00000345162.2_Missense_Mutation_p.T233A NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 233 defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) ATAATAAGTGTGTTCATCCAC 0.388000 8 91 0 0 1 0 0 TRIM9 114088 broad.mit.edu 37 14 51464808 51464808 + Silent SNP G G A TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr14:51464808G>A ENST00000298355.3 - 7 2684 c.1563C>T c.(1561-1563)gtC>gtT p.V521V TRIM9_ENST00000360392.4_Silent_p.V521V|TRIM9_ENST00000338969.5_Silent_p.V517V NM_015163.5 NP_055978.4 Q9C026 TRIM9_HUMAN tripartite motif containing 9 521 Fibronectin type-III. proteasomal ubiquitin-dependent protein catabolic process cell junction|cytoskeleton|dendrite|synaptic vesicle protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_epithelial(31;0.00418)|Breast(41;0.148) TGTACGGGCTGACTCCTGTTT 0.542000 17 16 0 0 1 0 0 TIE1 7075 broad.mit.edu 37 1 43779505 43779505 + Nonsense_Mutation SNP C C T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr1:43779505C>T ENST00000372476.3 + 14 2354 c.2275C>T c.(2275-2277)Cag>Tag p.Q759* TIE1_ENST00000433781.2_Nonsense_Mutation_p.Q404*|TIE1_ENST00000473014.1_3'UTR NM_001253357.1|NM_005424.4 NP_001240286.1|NP_005415.1 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and EGF-like domains 1 759 mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 70 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GGGCCTGGATCAGCAGCTGAT 0.642000 8 36 0 0 1 0 0 PSTK 118672 broad.mit.edu 37 10 124742270 124742270 + Nonsense_Mutation SNP C C T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr10:124742270C>T ENST00000405485.1 + 2 304 c.238C>T c.(238-240)Cga>Tga p.R80* PSTK_ENST00000368887.3_Nonsense_Mutation_p.R80*|PSTK_ENST00000497219.1_3'UTR Q8IV42 PSTK_HUMAN phosphoseryl-tRNA kinase 80 ATP binding|kinase activity endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|skin(1)|stomach(2) 13 all_neural(114;0.169)|Glioma(114;0.222) Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725) GAAATTGCTTCGACAGGAACT 0.493000 10 53 0 0 1 0 0 SYNJ1 8867 broad.mit.edu 37 21 34051071 34051071 + Missense_Mutation SNP T T C TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr21:34051071T>C ENST00000382499.2 - 12 1510 c.1511A>G c.(1510-1512)aAt>aGt p.N504S SYNJ1_ENST00000357345.3_Missense_Mutation_p.N465S|SYNJ1_ENST00000322229.7_Missense_Mutation_p.N465S|SYNJ1_ENST00000382491.3_Missense_Mutation_p.N468S|SYNJ1_ENST00000433931.2_Missense_Mutation_p.N504S NM_203446.2 NP_982271.2 O43426 SYNJ1_HUMAN synaptojanin 1 465 Catalytic (Potential). inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 57 AAAGAAGTTATTCTGAATTGT 0.383000 61 40 0 0 1 0 0 SLC12A4 6560 broad.mit.edu 37 16 68002376 68002376 + Missense_Mutation SNP G G T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr16:68002376G>T ENST00000422611.2 - 1 221 c.182C>A c.(181-183)aCt>aAt p.T61N SLC12A4_ENST00000572010.1_Intron|SLC12A4_ENST00000572037.1_Missense_Mutation_p.T11N|SLC12A4_ENST00000338335.3_Missense_Mutation_p.D27E|SLC12A4_ENST00000316341.3_Missense_Mutation_p.D27E|SLC12A4_ENST00000576616.1_Missense_Mutation_p.D27E NM_001145962.1 NP_001139434.1 Q9UP95 S12A4_HUMAN solute carrier family 12 (potassium/chloride transporter), member 4 0 cell volume homeostasis|potassium ion transport|sodium ion transport integral to plasma membrane|membrane fraction potassium:chloride symporter activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3) 29 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) Bumetanide(DB00887)|Potassium Chloride(DB00761) GCTCCCCGTAGTCCACCCAAC 0.741000 6 56 0.00116845 0.00118946 1 1 0 MSL3P1 151507 broad.mit.edu 37 2 234776993 234776993 + RNA SNP C C A TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr2:234776993C>A ENST00000438684.1 - 0 97 NR_024322.1 AGGCCTCCTCCGTCGGCGGCT 0.716000 3 1 0.115264 0.115264 1 1 0 CTNNA3 29119 broad.mit.edu 37 10 67829086 67829086 + Missense_Mutation SNP C C A TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr10:67829086C>A ENST00000433211.2 - 15 2313 c.2139G>T c.(2137-2139)atG>atT p.M713I CTNNA3_ENST00000373735.1_5'UTR|CTNNA3_ENST00000373744.4_Missense_Mutation_p.M713I NM_013266.2 NP_037398.2 Q9UI47 CTNA3_HUMAN catenin (cadherin-associated protein), alpha 3 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 95 CTGTCATCTCCATCATGATCA 0.363000 40 98 1.30475e-32 1.49491e-32 1 1 0 LRIF1 55791 broad.mit.edu 37 1 111495160 111495160 + Missense_Mutation SNP C C G TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr1:111495160C>G ENST00000369763.4 - 2 736 c.346G>C c.(346-348)Gaa>Caa p.E116Q RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000485275.2_Intron|LRIF1_ENST00000494675.1_5'UTR NM_018372.3 NP_060842.3 Q5T3J3 LRIF1_HUMAN ligand dependent nuclear receptor interacting factor 1 116 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix protein binding endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2) 28 CTACCTTTTTCTGATGTATCT 0.383000 36 47 0 0 1 0 0 NOTCH1 4851 broad.mit.edu 37 9 139395037 139395037 + Silent SNP C C T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr9:139395037C>T ENST00000277541.6 - 31 5976 c.5901G>A c.(5899-5901)gcG>gcA p.A1967A NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 1967 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) CAGACACAGCCGCATGCAGCG 0.682000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 27 185 0 0 1 0 0 MRPL44 65080 broad.mit.edu 37 2 224822290 224822290 + Missense_Mutation SNP G G A TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr2:224822290G>A ENST00000258383.3 + 1 170 c.101G>A c.(100-102)gGa>gAa p.G34E NM_022915.3 NP_075066.1 Q9H9J2 RM44_HUMAN mitochondrial ribosomal protein L44 34 RNA processing mitochondrion|ribosome double-stranded RNA binding|protein binding|ribonuclease III activity breast(1)|central_nervous_system(1)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 13 all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189) Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008) GTGAAGAAGGGATTCCGCGCC 0.682000 12 84 0 0 1 0 0 ZFAND6 54469 broad.mit.edu 37 15 80414101 80414101 + Missense_Mutation SNP G G A TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr15:80414101G>A ENST00000261749.6 + 4 624 c.202G>A c.(202-204)Gat>Aat p.D68N ZFAND6_ENST00000559835.1_Missense_Mutation_p.D68N|ZFAND6_ENST00000559157.1_Missense_Mutation_p.D56N|ZFAND6_ENST00000558688.1_Missense_Mutation_p.D68N|ZFAND6_ENST00000558494.1_Missense_Mutation_p.D68N|ZFAND6_ENST00000559775.1_Missense_Mutation_p.D68N|ZFAND6_ENST00000558087.1_Missense_Mutation_p.D68N|ZFAND6_ENST00000561060.1_Missense_Mutation_p.D68N NM_001242913.1|NM_001242914.1|NM_019006.3 NP_001229842.1|NP_001229843.1|NP_061879.2 Q6FIF0 ZFAN6_HUMAN zinc finger, AN1-type domain 6 68 Ser-rich. DNA binding|zinc ion binding cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1) 11 TCAATGCACAGATGGCAGTGT 0.423000 5 21 0 0 1 0 0 KCNS2 3788 broad.mit.edu 37 8 99440700 99440700 + Missense_Mutation SNP C C G TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr8:99440700C>G ENST00000287042.4 + 2 843 c.493C>G c.(493-495)Ccc>Gcc p.P165A KCNS2_ENST00000521839.1_Missense_Mutation_p.P165A NM_020697.2 NP_065748.1 Q9ULS6 KCNS2_HUMAN potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2 165 voltage-gated potassium channel complex voltage-gated potassium channel activity autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 31 Breast(36;2.4e-06) OV - Ovarian serous cystadenocarcinoma(57;0.0448) CGATGGGCAGCCCCTCGGCAA 0.602000 6 79 0 0 1 0 0 CLASP2 23122 broad.mit.edu 37 3 33686800 33686800 + Missense_Mutation SNP C C T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr3:33686800C>T ENST00000539981.1 - 1 7 c.8G>A c.(7-9)cGa>cAa p.R3Q CLASP2_ENST00000482896.1_Intron|CLASP2_ENST00000461133.3_Intron|CLASP2_ENST00000487200.1_Missense_Mutation_p.R3Q|CLASP2_ENST00000399362.4_Intron|CLASP2_ENST00000468888.2_Intron|CLASP2_ENST00000480013.1_Intron|CLASP2_ENST00000359576.5_Intron|CLASP2_ENST00000307312.7_Intron|CLASP2_ENST00000313350.6_Missense_Mutation_p.R3Q B2RTR1 B2RTR1_HUMAN cytoplasmic linker associated protein 2 0 breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 48 GCAAATCAGTCGCCTCATTCC 0.438000 22 101 0 0 1 0 0 ALMS1 7840 broad.mit.edu 37 2 73679650 73679650 + Missense_Mutation SNP C C T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr2:73679650C>T ENST00000264448.6 + 8 6104 c.5993C>T c.(5992-5994)tCa>tTa p.S1998L ALMS1_ENST00000377715.1_Missense_Mutation_p.S1998L|ALMS1_ENST00000409009.1_Missense_Mutation_p.S1956L NM_015120.4 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 1998 34 X 47 AA approximate tandem repeat. G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 CTCAAGATTTCAACTGTGCAT 0.408000 46 130 0 0 1 0 0 AOX1 316 broad.mit.edu 37 2 201477419 201477419 + Nonsense_Mutation SNP G G T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr2:201477419G>T ENST00000374700.2 + 14 1592 c.1351G>T c.(1351-1353)Gaa>Taa p.E451* AOX1_ENST00000485106.1_3'UTR NM_001159.3 NP_001150.3 Q06278 ADO_HUMAN aldehyde oxidase 1 451 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 81 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) CTTTTTTGGAGAAGGGGATGG 0.473000 19 73 8.28177e-16 9.04919e-16 1 1 0 DNAH5 1767 broad.mit.edu 37 5 13793680 13793680 + Missense_Mutation SNP T T A TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr5:13793680T>A ENST00000265104.4 - 49 8272 c.8168A>T c.(8167-8169)cAg>cTg p.Q2723L NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2723 AAA 3 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TATAGAGAACTGCCTCTTGAG 0.498000 Kartagener syndrome 50 59 0 0 1 0 0 SUPT16H 11198 broad.mit.edu 37 14 21831229 21831229 + Missense_Mutation SNP C C T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr14:21831229C>T ENST00000216297.2 - 13 1813 c.1475G>A c.(1474-1476)cGa>cAa p.R492Q NM_007192.3 NP_009123.1 Q9Y5B9 SP16H_HUMAN suppressor of Ty 16 homolog (S. cerevisiae) 492 DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|nucleoplasm GTP binding breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_cancers(95;0.00115) Epithelial(56;1.62e-06)|all cancers(55;1.49e-05) GBM - Glioblastoma multiforme(265;0.0159) TTCAGTCAATCGCCTCTTTGC 0.433000 46 36 0 0 1 0 0 MSL3P1 151507 broad.mit.edu 37 2 234776992 234776992 + RNA SNP C C G TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr2:234776992C>G ENST00000438684.1 - 0 98 NR_024322.1 AAGGCCTCCTCCGTCGGCGGC 0.711000 3 1 0 0 1 0 0 VSTM1 284415 broad.mit.edu 37 19 54567012 54567012 + Missense_Mutation SNP G G A TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr19:54567012G>A ENST00000338372.2 - 1 195 c.20C>T c.(19-21)tCc>tTc p.S7F VSTM1_ENST00000376626.1_Missense_Mutation_p.S7F|VSTM1_ENST00000425006.2_Missense_Mutation_p.S7F|VSTM1_ENST00000366170.2_5'UTR NM_198481.3 NP_940883.2 Q6UX27 VSTM1_HUMAN V-set and transmembrane domain containing 1 7 integral to membrane breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.165) GCAAAGCAGGGAGAGGAATTC 0.607000 64 160 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237872220 237872220 + Silent SNP T T C TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr1:237872220T>C ENST00000366574.2 + 69 10281 c.9964T>C c.(9964-9966)Tta>Cta p.L3322L RYR2_ENST00000542537.1_Silent_p.L3306L|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Silent_p.L3320L NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 3322 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) TTTCTTGCCGTTAATGGAGAA 0.438000 21 17 0 0 1 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121652005 121652005 + Missense_Mutation SNP A A T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr7:121652005A>T ENST00000393386.2 + 12 3316 c.2905A>T c.(2905-2907)Ata>Tta p.I969L PTPRZ1_ENST00000483028.1_Intron|PTPRZ1_ENST00000449182.1_Intron NM_001206838.1|NM_002851.2 NP_001193767.1|NP_002842.2 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, Z polypeptide 1 969 central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 CCCTAGCCATATACCAATACC 0.463000 50 35 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237632487 237632487 + Splice_Site SNP G G A TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr1:237632487G>A ENST00000366574.2 + 17 2025 c.1708G>A c.(1708-1710)Ggc>Agc p.G570S RYR2_ENST00000542537.1_Splice_Site_p.G554S|RYR2_ENST00000360064.6_Splice_Site_p.G568S NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 570 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) AGCTTCTTCAGGTATGTTTTC 0.358000 30 31 0 0 1 0 0 FAM179B 23116 broad.mit.edu 37 14 45542577 45542577 + Missense_Mutation SNP G G A TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr14:45542577G>A ENST00000361462.2 + 20 5318 c.5135G>A c.(5134-5136)gGa>gAa p.G1712E FAM179B_ENST00000382233.2_3'UTR|FAM179B_ENST00000361577.3_Missense_Mutation_p.G1659E Q9Y4F4 F179B_HUMAN family with sequence similarity 179, member B 1659 binding endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 45 CATCTCTTAGGAAATATGACA 0.388000 6 22 0 0 1 0 0 BTBD8 284697 broad.mit.edu 37 1 92613275 92613275 + Nonsense_Mutation SNP G G T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr1:92613275G>T ENST00000342818.3 + 9 1290 c.1054G>T c.(1054-1056)Gag>Tag p.E352* BTBD8_ENST00000540648.1_3'UTR NM_183242.3 NP_899065.2 Q5XKL5 BTBD8_HUMAN BTB (POZ) domain containing 8 352 nucleus breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1) 16 all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222) all cancers(265;0.0153)|Epithelial(280;0.0982) GTTTTGGTCTGAGAGAAGCTT 0.299000 4 34 0.00024832 0.000254618 1 1 0 PXDNL 137902 broad.mit.edu 37 8 52320772 52320772 + Missense_Mutation SNP C C T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr8:52320772C>T ENST00000356297.4 - 17 3512 c.3412G>A c.(3412-3414)Gct>Act p.A1138T PXDNL_ENST00000543296.1_Missense_Mutation_p.A1138T NM_144651.4 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 1138 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) ATGGTGGCAGCCGAATCCACG 0.522000 14 187 0 0 1 0 0 TLL1 7092 broad.mit.edu 37 4 166915565 166915565 + Missense_Mutation SNP G G A TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr4:166915565G>A ENST00000061240.2 + 4 1041 c.394G>A c.(394-396)Gta>Ata p.V132I TLL1_ENST00000513213.1_Missense_Mutation_p.V132I|TLL1_ENST00000507499.1_Missense_Mutation_p.V132I NM_012464.4 NP_036596.3 O43897 TLL1_HUMAN tolloid-like 1 132 cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding p.V132L(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) TAAGGGAAAAGTACCTCTACA 0.413000 5 21 0 0 1 0 0 SKOR1 390598 broad.mit.edu 37 15 68119288 68119288 + Silent SNP G G A TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr15:68119288G>A ENST00000380035.2 + 2 1180 c.1122G>A c.(1120-1122)gtG>gtA p.V374V SKOR1_ENST00000554054.1_Silent_p.V346V|SKOR1_ENST00000341418.5_Silent_p.V481V|SKOR1_ENST00000554240.1_Silent_p.V335V|SKOR1_ENST00000389002.1_Silent_p.V330V P84550 SKOR1_HUMAN SKI family transcriptional corepressor 1 374 negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent cytoplasm|dendrite|neuronal cell body|nucleus nucleotide binding|SMAD binding|transcription repressor activity endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1) 23 GCTACCCGGTGATCCCGGTGC 0.697000 7 13 0 0 1 0 0 DLG2 1740 broad.mit.edu 37 11 84027905 84027905 + Missense_Mutation SNP T T C TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr11:84027905T>C ENST00000280241.8 - 1 283 c.284A>G c.(283-285)cAt>cGt p.H95R DLG2_ENST00000532653.1_Intron|DLG2_ENST00000376104.2_Intron|DLG2_ENST00000543673.1_Intron|DLG2_ENST00000524982.1_Intron|DLG2_ENST00000398301.2_Missense_Mutation_p.H95R|DLG2_ENST00000398309.2_Intron NM_001206769.1 NP_001193698.1 Q15700 DLG2_HUMAN discs, large homolog 2 (Drosophila) 0 cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) GCAGGTACAATGCTCCCCACA 0.537000 11 26 0 0 1 0 0 YIPF3 25844 broad.mit.edu 37 6 43481336 43481336 + Missense_Mutation SNP T T C TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr6:43481336T>C ENST00000372422.2 - 4 613 c.431A>G c.(430-432)aAc>aGc p.N144S YIPF3_ENST00000506469.1_Missense_Mutation_p.N150S NM_015388.3 NP_056203.2 Q9GZM5 YIPF3_HUMAN Yip1 domain family, member 3 144 cell differentiation integral to membrane|plasma membrane|transport vesicle large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1) 9 all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711) CTGGGGGAAGTTGACCATCTT 0.572000 28 30 0 0 1 0 0 MYOC 4653 broad.mit.edu 37 1 171605550 171605550 + Missense_Mutation SNP C C G TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr1:171605550C>G ENST00000037502.6 - 3 1101 c.1030G>C c.(1030-1032)Gtc>Ctc p.V344L NM_000261.1 NP_000252.1 Q99972 MYOC_HUMAN myocilin, trabecular meshwork inducible glucocorticoid response Olfactomedin-like. anatomical structure morphogenesis cilium|extracellular space|rough endoplasmic reticulum structural molecule activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2) 28 all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) TATCTTATGACAGTTCTGGAC 0.537000 19 146 0 0 1 0 0 DIP2C 22982 broad.mit.edu 37 10 403791 403791 + Missense_Mutation SNP C C T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr10:403791C>T ENST00000280886.6 - 23 2968 c.2881G>A c.(2881-2883)Gaa>Aaa p.E961K DIP2C_ENST00000540204.1_Missense_Mutation_p.E282K|DIP2C_ENST00000381496.3_3'UTR NM_014974.2 NP_055789.1 Q9Y2E4 DIP2C_HUMAN DIP2 disco-interacting protein 2 homolog C (Drosophila) 961 nucleus catalytic activity|transcription factor binding breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) TCGTTATCTTCGATCTGACCC 0.602000 37 46 0 0 1 0 0 GPATCH2 55105 broad.mit.edu 37 1 217793546 217793546 + Missense_Mutation SNP C C T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr1:217793546C>T ENST00000366935.3 - 2 462 c.352G>A c.(352-354)Gat>Aat p.D118N GPATCH2_ENST00000366934.3_Missense_Mutation_p.D118N NM_018040.2 NP_060510.1 Q9NW75 GPTC2_HUMAN G patch domain containing 2 118 intracellular nucleic acid binding NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1) 35 OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872) ATTTGGTCATCAGAGTCACTG 0.388000 8 78 0 0 1 0 0 PDE9A 5152 broad.mit.edu 37 21 44182246 44182246 + Missense_Mutation SNP C C T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr21:44182246C>T ENST00000291539.6 + 14 1199 c.1139C>T c.(1138-1140)cCg>cTg p.P380L PDE9A_ENST00000380328.2_Missense_Mutation_p.P327L|PDE9A_ENST00000328862.6_Missense_Mutation_p.P354L|PDE9A_ENST00000398224.3_Missense_Mutation_p.P253L|PDE9A_ENST00000335440.6_Missense_Mutation_p.P278L|PDE9A_ENST00000398236.3_Missense_Mutation_p.P294L|PDE9A_ENST00000349112.3_Missense_Mutation_p.P252L|PDE9A_ENST00000335512.4_Missense_Mutation_p.P320L|PDE9A_ENST00000398229.3_Missense_Mutation_p.P246L|PDE9A_ENST00000398232.3_Missense_Mutation_p.P313L|PDE9A_ENST00000398234.3_Missense_Mutation_p.P279L|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398225.3_Missense_Mutation_p.P339L|PDE9A_ENST00000398227.3_Missense_Mutation_p.P220L|PDE9A_ENST00000539837.1_Missense_Mutation_p.P252L NM_002606.2 NP_002597.1 O76083 PDE9A_HUMAN phosphodiesterase 9A 380 Catalytic (By similarity). platelet activation|signal transduction cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 GACATCTCACCGCTGGAGAAC 0.602000 4 82 0 0 1 0 0 ZNF608 57507 broad.mit.edu 37 5 123979304 123979304 + Missense_Mutation SNP A A G TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr5:123979304A>G ENST00000306315.5 - 6 4631 c.4196T>C c.(4195-4197)gTc>gCc p.V1399A ZNF608_ENST00000513985.1_5'UTR|ZNF608_ENST00000504926.1_Missense_Mutation_p.V972A NM_020747.2 NP_065798.2 Q9ULD9 ZN608_HUMAN zinc finger protein 608 1399 intracellular zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1) 46 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) GCTGGTATTGACTTTCTCTGT 0.458000 14 22 0 0 1 0 0 EYA1 2138 broad.mit.edu 37 8 72123472 72123472 + Silent SNP C C T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr8:72123472C>T ENST00000340726.3 - 17 2256 c.1617G>A c.(1615-1617)gaG>gaA p.E539E EYA1_ENST00000388742.4_Silent_p.E539E|EYA1_ENST00000388740.3_Silent_p.E506E|EYA1_ENST00000388743.2_Silent_p.E538E|EYA1_ENST00000419131.1_Silent_p.E504E|EYA1_ENST00000388741.2_Silent_p.E505E|EYA1_ENST00000303824.7_Silent_p.E533E NM_000503.4 NP_000494.2 Q99502 EYA1_HUMAN eyes absent homolog 1 (Drosophila) 539 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 44 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) GAATTATTCTCTCAAAACAGC 0.333000 36 196 0 0 1 0 0 SF3B3 23450 broad.mit.edu 37 16 70594456 70594456 + Missense_Mutation SNP G G A TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr16:70594456G>A ENST00000302516.5 + 16 2306 c.2095G>A c.(2095-2097)Gtg>Atg p.V699M NM_012426.4 NP_036558.3 Q15393 SF3B3_HUMAN splicing factor 3b, subunit 3, 130kDa 699 protein complex assembly catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex nucleic acid binding|protein binding breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 53 Ovarian(137;0.0694) GTCCCGTCCTGTGAAGCTCTT 0.527000 21 80 0 0 1 0 0 DMXL1 1657 broad.mit.edu 37 5 118503550 118503550 + Missense_Mutation SNP G G C TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr5:118503550G>C ENST00000311085.8 + 23 5469 c.5389G>C c.(5389-5391)Gag>Cag p.E1797Q DMXL1_ENST00000539542.1_Missense_Mutation_p.E1797Q NM_005509.4 NP_005500.4 Q9Y485 DMXL1_HUMAN Dmx-like 1 1797 breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1) 86 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) ACCTATCAGAGAGAATGATGG 0.353000 11 8 0 0 1 0 0 PLEKHA5 54477 broad.mit.edu 37 12 19489476 19489476 + Missense_Mutation SNP G G A TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr12:19489476G>A ENST00000538714.1 + 18 2345 c.2341G>A c.(2341-2343)Gat>Aat p.D781N PLEKHA5_ENST00000539256.1_Missense_Mutation_p.D481N|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.D781N|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.D654N|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.D642N|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.D723N|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.D826N|PLEKHA5_ENST00000299275.6_Missense_Mutation_p.D723N|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.D723N NM_001143821.2 NP_001137293.2 Q9HAU0 PKHA5_HUMAN pleckstrin homology domain containing, family A member 5 723 1-phosphatidylinositol binding|protein binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804) GAGAGAATATGATAAGTTAGA 0.348000 7 63 0 0 1 0 0 NOX3 50508 broad.mit.edu 37 6 155732475 155732475 + Missense_Mutation SNP C C G TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr6:155732475C>G ENST00000159060.2 - 11 1430 c.1328G>C c.(1327-1329)tGc>tCc p.C443S NM_015718.2 NP_056533.1 Q9HBY0 NOX3_HUMAN NADPH oxidase 3 443 electron carrier activity|flavin adenine dinucleotide binding|iron ion binding cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1) 45 Breast(66;0.0183) OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815) TGCATCCCGGCAAATCCAGTA 0.413000 5 39 0 0 1 0 0 SMARCC2 6601 broad.mit.edu 37 12 56558280 56558280 + Silent SNP G G A TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr12:56558280G>A ENST00000550164.1 - 28 3482 c.3468C>T c.(3466-3468)ttC>ttT p.F1156F SMARCC2_ENST00000347471.4_Intron|SMARCC2_ENST00000394023.3_Intron|SMARCC2_ENST00000267064.4_Silent_p.F1125F|RP11-977G19.5_ENST00000553176.1_RNA Q8TAQ2 SMRC2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 1125 Pro-rich. chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex DNA binding|protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(18;0.123) TGCCCGGGGCGAACGGGAGAT 0.587000 58 87 0 0 1 0 0 TSC2 7249 broad.mit.edu 37 16 2136340 2136340 + Silent SNP C C T rs147578602 TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr16:2136340C>T ENST00000219476.3 + 37 5439 c.4809C>T c.(4807-4809)gaC>gaT p.D1603D TSC2_ENST00000350773.4_Silent_p.D1580D|TSC2_ENST00000401874.2_Silent_p.D1536D|TSC2_ENST00000568454.1_Silent_p.D1547D|TSC2_ENST00000382538.6_Silent_p.D1488D|TSC2_ENST00000353929.4_Silent_p.D1560D|TSC2_ENST00000439673.2_Silent_p.D1500D NM_000548.3 NP_000539.2 P49815 TSC2_HUMAN tuberous sclerosis 2 1603 Rap-GAP. cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex GTPase activator activity|protein homodimerization activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1) 56 Hepatocellular(780;0.0202) GTGGTGAGGACGGCCAGTTCA 0.657000 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 19 42 0 0 1 0 0 NUP210 23225 broad.mit.edu 37 3 13438885 13438885 + Missense_Mutation SNP C C A TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr3:13438885C>A ENST00000254508.5 - 3 490 c.408G>T c.(406-408)gaG>gaT p.E136D NM_024923.2 NP_079199.2 Q8TEM1 PO210_HUMAN nucleoporin 210kDa 136 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_neural(104;0.187) GGATCTTCAGCTCCAGGGGGG 0.607000 13 69 0.00010058 0.000103884 1 1 0 MZT2A 653784 broad.mit.edu 37 2 132241740 132241740 + Missense_Mutation SNP C C T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr2:132241740C>T ENST00000309451.6 - 3 416 c.371G>A c.(370-372)cGc>cAc p.R124H MZT2A_ENST00000410036.2_5'UTR NM_001085365.1 NP_001078834.1 Q6P582 MZT2A_HUMAN mitotic spindle organizing protein 2A 124 centrosome|gamma-tubulin ring complex|spindle breast(1)|lung(1) 2 GTGGTTGCTGCGTTCCGCCAG 0.637000 26 105 0 0 1 0 0 CACNA1G 8913 broad.mit.edu 37 17 48676977 48676977 + Silent SNP G G A TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr17:48676977G>A ENST00000352832.5 + 16 3750 c.3378G>A c.(3376-3378)gaG>gaA p.E1126E CACNA1G_ENST00000502264.1_Silent_p.E1126E|CACNA1G_ENST00000513689.2_Silent_p.E1149E|CACNA1G_ENST00000507609.1_Silent_p.E1149E|CACNA1G_ENST00000515411.1_Silent_p.E1149E|CACNA1G_ENST00000513964.1_Silent_p.E1149E|CACNA1G_ENST00000503485.1_Silent_p.E1149E|CACNA1G_ENST00000515765.1_Silent_p.E1149E|CACNA1G_ENST00000512389.1_Silent_p.E1149E|CACNA1G_ENST00000514717.1_Silent_p.E1126E|CACNA1G_ENST00000360761.4_Silent_p.E1126E|CACNA1G_ENST00000515165.1_Silent_p.E1149E|CACNA1G_ENST00000507510.2_Silent_p.E1149E|CACNA1G_ENST00000358244.5_Silent_p.E1126E|CACNA1G_ENST00000442258.2_Silent_p.E1126E|CACNA1G_ENST00000429973.2_Silent_p.E1149E|CACNA1G_ENST00000505165.1_Silent_p.E1149E|CACNA1G_ENST00000354983.4_Silent_p.E1126E|CACNA1G_ENST00000416767.4_Silent_p.E1149E|CACNA1G_ENST00000510366.1_Silent_p.E1149E|CACNA1G_ENST00000507896.1_Silent_p.E1149E|CACNA1G_ENST00000514181.1_Silent_p.E1149E|CACNA1G_ENST00000359106.5_Silent_p.E1149E|CACNA1G_ENST00000510115.1_Silent_p.E1126E|CACNA1G_ENST00000514079.1_Silent_p.E1149E|CACNA1G_ENST00000507336.1_Silent_p.E1149E NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2 NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 1149 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) CAGAAGAGGAGCGGGCCAGCC 0.657000 10 34 0 0 1 0 0 C12orf55 144535 broad.mit.edu 37 12 97102420 97102420 + Missense_Mutation SNP C C T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr12:97102420C>T ENST00000524981.4 + 48 6586 c.6563C>T c.(6562-6564)gCa>gTa p.A2188V chromosome 12 open reading frame 55 GGCTTGCCTGCAGTTCTGGTT 0.303000 22 26 0 0 1 0 0 POTEE 445582 broad.mit.edu 37 2 132021837 132021837 + Missense_Mutation SNP G G C TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr2:132021837G>C ENST00000356920.5 + 15 2903 c.2809G>C c.(2809-2811)Gag>Cag p.E937Q POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron NM_001083538.1 NP_001077007.1 Q6S8J3 POTEE_HUMAN POTE ankyrin domain family, member E 937 Actin-like. ATP binding p.E937K(1) CTCCTCCCTAGAGAAGAGCTA 0.627000 58 235 0 0 1 0 0 OCLN 100506658 broad.mit.edu 37 5 68805247 68805247 + Silent SNP C C A TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr5:68805247C>A ENST00000355237.2 + 3 766 c.330C>A c.(328-330)ggC>ggA p.G110G OCLN_ENST00000380766.2_Silent_p.G110G|OCLN_ENST00000396442.2_Silent_p.G110G|OCLN_ENST00000538151.1_Intron|OCLN_ENST00000542132.1_Intron NM_002538.3 NP_002529.1 Q16625 OCLN_HUMAN occludin 110 Gly/Tyr-rich.|MARVEL. cellular component disassembly involved in apoptosis|protein complex assembly integral to membrane|tight junction protein binding|structural molecule activity endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1) 6 Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174) GAGGAAGTGGCTTTGGTAGCT 0.527000 17 67 1.02788e-11 1.11453e-11 1 1 0 CASP8AP2 9994 broad.mit.edu 37 6 90564591 90564591 + RNA SNP G G C TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr6:90564591G>C ENST00000551025.1 + 0 1617 Q9UKL3 C8AP2_HUMAN caspase 8 associated protein 2 cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|nucleus caspase activator activity|death receptor binding|transcription corepressor activity NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2) 51 all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0953) TATATGAAGAGATCCTGACTG 0.343000 7 22 0 0 1 0 0 PGBD5 79605 broad.mit.edu 37 1 230461091 230461091 + Silent SNP C C T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr1:230461091C>T ENST00000321327.2 - 8 1433 c.1434G>A c.(1432-1434)ctG>ctA p.L478L PGBD5_ENST00000391860.1_Silent_p.L333L|PGBD5_ENST00000530424.1_5'UTR|PGBD5_ENST00000525115.1_Silent_p.L379L Q8N414 PGBD5_HUMAN piggyBac transposable element derived 5 379 integral to membrane biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1) 33 Breast(184;0.0397) Prostate(94;0.167) GBM - Glioblastoma multiforme(131;0.201) AGATGTAGCTCAGGTGAGCGG 0.532000 103 102 0 0 1 0 0 GXYLT2 727936 broad.mit.edu 37 3 73004478 73004478 + Missense_Mutation SNP G G A TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr3:73004478G>A ENST00000389617.4 + 4 991 c.830G>A c.(829-831)cGg>cAg p.R277Q NM_001080393.1 NP_001073862.1 A0PJZ3 GXLT2_HUMAN glucoside xylosyltransferase 2 277 O-glycan processing integral to membrane UDP-xylosyltransferase activity NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 18 AATTTAACTCGGATAAGAAGT 0.433000 9 35 0 0 1 0 0 TONSL 4796 broad.mit.edu 37 8 145657806 145657806 + Silent SNP G G A TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr8:145657806G>A ENST00000409379.3 - 23 3626 c.3597C>T c.(3595-3597)aaC>aaT p.N1199N NM_013432.4 NP_038460.4 Q96HA7 TONSL_HUMAN tonsoku-like, DNA repair protein 1199 cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing cytoplasm|nuclear replication fork histone binding|transcription corepressor activity biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1) 26 CTCCCAGGGCGTTGTAGGACA 0.667000 31 194 0 0 1 0 0 MMP8 4317 broad.mit.edu 37 11 102589157 102589157 + Missense_Mutation SNP G G C TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr11:102589157G>C ENST00000236826.3 - 5 870 c.772C>G c.(772-774)Cag>Gag p.Q258E NM_002424.2 NP_002415.1 P22894 MMP8_HUMAN matrix metallopeptidase 8 (neutrophil collagenase) 258 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1) 32 all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189) BRCA - Breast invasive adenocarcinoma(274;0.0141) TAGATGGCCTGAATGCCATCG 0.488000 3 11 0 0 1 0 0 ABR 29 broad.mit.edu 37 17 995085 995085 + Missense_Mutation SNP C C T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr17:995085C>T ENST00000544583.2 - 4 812 c.213G>A c.(211-213)atG>atA p.M71I ABR_ENST00000302538.5_Missense_Mutation_p.M117I|ABR_ENST00000574437.1_Missense_Mutation_p.M71I|ABR_ENST00000291107.2_Missense_Mutation_p.M80I NM_001159746.2 NP_001153218.1 Q12979 ABR_HUMAN active BCR-related 117 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 UCEC - Uterine corpus endometrioid carcinoma (25;0.0228) TCAGGGGTTTCATGGGCTGGG 0.592000 22 106 0 0 1 0 0 DPPA5 340168 broad.mit.edu 37 6 74063703 74063703 + Silent SNP G G A TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr6:74063703G>A ENST00000370370.3 - 2 234 c.165C>T c.(163-165)ctC>ctT p.L55L NM_001025290.2 NP_001020461.1 A6NC42 DPPA5_HUMAN developmental pluripotency associated 5 55 KH; atypical. multicellular organismal development cytoplasm RNA binding NS(1)|endometrium(1)|lung(5) 7 CCTTCAGCTCGAGCATGGCCT 0.587000 50 57 0 0 1 0 0 DMPK 1760 broad.mit.edu 37 19 46280973 46280973 + Missense_Mutation SNP G G C TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr19:46280973G>C ENST00000600757.1 - 6 1551 c.864C>G c.(862-864)ttC>ttG p.F288L DMPK_ENST00000291270.4_Missense_Mutation_p.F278L|DMPK_ENST00000354227.5_Missense_Mutation_p.F278L|DMPK_ENST00000458663.2_Missense_Mutation_p.F278L|DMPK_ENST00000447742.2_Missense_Mutation_p.F278L|DMPK_ENST00000343373.4_Missense_Mutation_p.F288L Q09013 DMPK_HUMAN dystrophia myotonica-protein kinase 288 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) AATCCGCGTAGAAGGGCGTCT 0.642000 82 164 0 0 1 0 0 ZNF25 219749 broad.mit.edu 37 10 38241544 38241544 + Missense_Mutation SNP G G C TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr10:38241544G>C ENST00000302609.7 - 6 1094 c.882C>G c.(880-882)ttC>ttG p.F294L ZNF25_ENST00000374633.1_5'UTR NM_145011.2 NP_659448.1 P17030 ZNF25_HUMAN zinc finger protein 25 294 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157) TCCTAGAGAAGAATTTCCCAC 0.433000 10 63 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126402879 126402879 + Missense_Mutation SNP T T C TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr4:126402879T>C ENST00000394329.3 + 15 12815 c.12802T>C c.(12802-12804)Tac>Cac p.Y4268H FAT4_ENST00000335110.5_Missense_Mutation_p.Y2509H NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 4268 Laminin G-like 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 AAGCAGCAATTACACTACTGT 0.423000 14 38 0 0 1 0 0 CEP152 22995 broad.mit.edu 37 15 49034173 49034173 + Missense_Mutation SNP T T A TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr15:49034173T>A ENST00000380950.2 - 25 4147 c.3960A>T c.(3958-3960)caA>caT p.Q1320H CEP152_ENST00000325747.5_Missense_Mutation_p.Q1227H|CEP152_ENST00000399334.3_Missense_Mutation_p.Q1264H NM_001194998.1|NM_014985.3 NP_001181927.1|NP_055800.2 O94986 CE152_HUMAN centrosomal protein 152kDa 1264 centrosome duplication|G2/M transition of mitotic cell cycle centrosome|cytosol protein kinase binding breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2) 63 all_lung(180;0.0428) all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06) GCAAAATCTGTTGGAGGCAAA 0.413000 22 87 0 0 1 0 0 BBS9 27241 broad.mit.edu 37 7 33423321 33423321 + Silent SNP C C T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr7:33423321C>T ENST00000242067.6 + 18 2354 c.1833C>T c.(1831-1833)ctC>ctT p.L611L BBS9_ENST00000354265.4_Silent_p.L576L|BBS9_ENST00000350941.3_Silent_p.L571L|BBS9_ENST00000355070.2_Silent_p.L606L|BBS9_ENST00000396127.2_Silent_p.L576L NM_198428.2 NP_940820.1 Q3SYG4 PTHB1_HUMAN Bardet-Biedl syndrome 9 611 fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding BBS9/PKD1L1(2) NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(11;0.0894) ATCTTTGGCTCATAACCAATG 0.338000 Bardet-Biedl syndrome 6 8 0 0 1 0 0 DPP10 57628 broad.mit.edu 37 2 116283482 116283482 + Missense_Mutation SNP C C A TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr2:116283482C>A ENST00000410059.1 + 5 855 c.375C>A c.(373-375)ttC>ttA p.F125L DPP10_ENST00000393147.2_Missense_Mutation_p.F129L|DPP10_ENST00000488208.1_3'UTR|DPP10_ENST00000409163.1_Missense_Mutation_p.F75L|DPP10_ENST00000310323.8_Missense_Mutation_p.F118L NM_001178037.1|NM_020868.3 NP_001171508.1|NP_065919 Q8N608 DPP10_HUMAN dipeptidyl-peptidase 10 (non-functional) 125 proteolysis integral to membrane|membrane fraction serine-type peptidase activity breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1) 101 AGGTAACCTTCAAAGCATCAA 0.284000 5 10 0.014758 0.0149161 1 1 0 FAM126A 84668 broad.mit.edu 37 7 22985519 22985519 + Missense_Mutation SNP C C G TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr7:22985519C>G ENST00000432176.2 - 11 1487 c.1255G>C c.(1255-1257)Gag>Cag p.E419Q FAM126A_ENST00000409923.1_3'UTR NM_032581.3 NP_115970.2 Q9BYI3 HYCCI_HUMAN family with sequence similarity 126, member A 419 cytoplasm|membrane signal transducer activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2) 23 GAGAGAAGCTCAAGATTCTCA 0.423000 51 46 0 0 1 0 0 DPP3 10072 broad.mit.edu 37 11 66259056 66259056 + Missense_Mutation SNP C C T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr11:66259056C>T ENST00000532677.1 + 8 1348 c.947C>T c.(946-948)tCc>tTc p.S316F DPP3_ENST00000530165.1_Missense_Mutation_p.S267F|DPP3_ENST00000360510.2_Missense_Mutation_p.S297F|DPP3_ENST00000541961.1_Missense_Mutation_p.S297F|DPP3_ENST00000453114.1_Missense_Mutation_p.S297F|DPP3_ENST00000531863.1_Missense_Mutation_p.S317F NM_001256670.1|NM_005700.4|NM_130443.3 NP_001243599.1|NP_005691.2|NP_569710.2 Q9NY33 DPP3_HUMAN dipeptidyl-peptidase 3 297 proteolysis cytoplasm aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1) 23 AAGAGGGGCTCCCGCTTCTGG 0.652000 OREG0021109 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 59 0 0 1 0 0 CELSR2 1952 broad.mit.edu 37 1 109805452 109805452 + Silent SNP G G C TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr1:109805452G>C ENST00000271332.3 + 7 4630 c.4569G>C c.(4567-4569)ctG>ctC p.L1523L NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 1523 Laminin G-like 1. dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) CGGGGCCCCTGCTACTAGGCG 0.672000 27 85 0 0 1 0 0 TGS1 96764 broad.mit.edu 37 8 56686266 56686266 + Missense_Mutation SNP G G A TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr8:56686266G>A ENST00000260129.5 + 1 566 c.89G>A c.(88-90)aGg>aAg p.R30K NM_024831.6 NP_079107.6 Q96RS0 TGS1_HUMAN trimethylguanosine synthase 1 30 cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent Cajal body|cytosol RNA trimethylguanosine synthase activity breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147) Epithelial(17;0.00027)|all cancers(17;0.00251) CTTTGCTCCAGGGCATTTGTG 0.458000 6 65 0 0 1 0 0 AOC4P 90586 broad.mit.edu 37 17 41020643 41020643 + RNA SNP T T A TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr17:41020643T>A ENST00000585538.1 + 0 1482 NR_002773.1 CTACTCCCACTACTTTGGGGG 0.532000 12 22 0 0 1 0 0 IKZF2 22807 broad.mit.edu 37 2 214012392 214012393 + Frame_Shift_Del DEL AC AC - TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr2:214012392_214012393delAC ENST00000442445.1 - 3 253_254 c.196_197delGT c.(196-198)gtcfs p.V66fs IKZF2_ENST00000374319.4_Intron|IKZF2_ENST00000451136.2_Intron|IKZF2_ENST00000457361.1_Intron|IKZF2_ENST00000413091.3_Intron|IKZF2_ENST00000342002.2_Intron|IKZF2_ENST00000421754.2_Intron|IKZF2_ENST00000434687.1_Intron|IKZF2_ENST00000374327.4_Intron Q9UKS7 IKZF2_HUMAN IKAROS family zinc finger 2 (Helios) 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Esophageal squamous(248;0.0559)|Renal(323;0.218) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792) TGCTGGAGAGACACACACACAC 0.401 7 90 --- --- --- --- PLCD1 5333 broad.mit.edu 37 3 38061753 38061754 + Frame_Shift_Ins INS - - AG TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr3:38061753_38061754insAG ENST00000463876.1 - 2 540_541 c.187_188insCT c.(187-189)tacfs p.Y63fs PLCD1_ENST00000334661.4_Frame_Shift_Ins_p.Y42fs NM_001130964.1 NP_001124436.1 P51178 PLCD1_HUMAN phospholipase C, delta 1 42 PH. intracellular signal transduction|lipid catabolic process|phospholipid metabolic process cytoplasm calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1) 24 KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653) CTGCAACTTGTAGAAGCGCTCT 0.604 24 60 --- --- --- --- ALG1L2 644974 broad.mit.edu 37 3 129814807 129814807 + RNA DEL G G - rs71158106 TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr3:129814807delG ENST00000507643.1 + 0 456 C9J202 AG1L2_HUMAN biosynthetic process transferase activity, transferring glycosyl groups CACTCCCCTCGGGGGGTGTTG 0.607 3 4 --- --- --- --- CCT6P1 643253 broad.mit.edu 37 7 65226569 65226569 + RNA DEL T T - TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr7:65226569delT ENST00000442266.1 + 0 1167 gcccggccCCttttttttttt 0.413 2 4 --- --- --- --- MUC17 140453 broad.mit.edu 37 7 100681960 100681960 + Frame_Shift_Del DEL T T - TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr7:100681960delT ENST00000306151.4 + 3 7327 c.7263delT c.(7261-7263)cctfs p.P2421fs NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2421 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CCACAACTCCTGTTGACACCA 0.507 289 465 --- --- --- --- ANK3 288 broad.mit.edu 37 10 61831368 61831368 + Frame_Shift_Del DEL T T - TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr10:61831368delT ENST00000280772.2 - 37 9462 c.9271delA c.(9271-9273)actfs p.T3091fs ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 ACGGGTAAAGTTTTTATCTCT 0.408 31 163 --- --- --- --- LOXL4 84171 broad.mit.edu 37 10 100019161 100019161 + Frame_Shift_Del DEL C C - TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr10:100019161delC ENST00000260702.3 - 5 838 c.688delG c.(688-690)gacfs p.D230fs NM_032211.6 NP_115587.6 Q96JB6 LOXL4_HUMAN lysyl oxidase-like 4 230 SRCR 2. extracellular space|membrane copper ion binding|protein binding|scavenger receptor activity breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2) 26 Colorectal(252;0.234) Epithelial(162;2.14e-11)|all cancers(201;2.49e-09) GACTTAGGGTCCCTCATCTTC 0.567 25 22 --- --- --- --- HSPA12A 259217 broad.mit.edu 37 10 118460503 118460503 + Frame_Shift_Del DEL T T - TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr10:118460503delT ENST00000369209.3 - 4 496 c.392delA c.(391-393)aagfs p.K131fs NM_025015.2 NP_079291.2 O43301 HS12A_HUMAN heat shock 70kDa protein 12A 131 ATP binding breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 32 all cancers(201;0.0158) CAGCCACTGCTTGGCCTCATT 0.582 20 115 --- --- --- --- MARK2 2011 broad.mit.edu 37 11 63671582 63671582 + Frame_Shift_Del DEL C C - TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr11:63671582delC ENST00000402010.2 + 15 2218 c.1639delC c.(1639-1641)cccfs p.P548fs MARK2_ENST00000377809.4_Frame_Shift_Del_p.P548fs|MARK2_ENST00000425897.2_Frame_Shift_Del_p.P468fs|MARK2_ENST00000508192.1_Intron|MARK2_ENST00000408948.3_Intron|MARK2_ENST00000513765.2_Frame_Shift_Del_p.P515fs|MARK2_ENST00000350490.7_Intron|MARK2_ENST00000361128.5_Intron|MARK2_ENST00000315032.8_Frame_Shift_Del_p.P548fs|MARK2_ENST00000509502.2_Frame_Shift_Del_p.P514fs|MARK2_ENST00000413835.2_Intron|MARK2_ENST00000502399.3_Frame_Shift_Del_p.P547fs|MARK2_ENST00000377810.3_Intron NM_001039469.2 NP_001034558.2 Q7KZI7 MARK2_HUMAN MAP/microtubule affinity-regulating kinase 2 548 cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress plasma membrane ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 CTCTGGGCTGCCCCCCACGGA 0.687 8 10 --- --- --- --- KRTAP5-11 440051 broad.mit.edu 37 11 71293671 71293671 + Frame_Shift_Del DEL C C - TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr11:71293671delC ENST00000398530.1 - 1 250 c.213delG c.(211-213)gggfs p.G71fs AP000867.1_ENST00000343767.3_Intron|KRTAP5-11_ENST00000526239.1_Intron NM_001005405.2 NP_001005405.1 Q6L8G4 KR511_HUMAN keratin associated protein 5-11 71 6 X 4 AA repeats of C-C-X-P. keratin filament endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 CCTTGGAGCTCCCACAAGAGC 0.617 62 231 --- --- --- --- KIF21A 55605 broad.mit.edu 37 12 39696876 39696876 + Frame_Shift_Del DEL G G - TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr12:39696876delG ENST00000395670.3 - 35 5044 c.4625delC c.(4624-4626)cctfs p.P1542fs KIF21A_ENST00000544797.2_Frame_Shift_Del_p.P1504fs|KIF21A_ENST00000361961.3_Frame_Shift_Del_p.P1528fs|KIF21A_ENST00000361418.5_Frame_Shift_Del_p.P1541fs|KIF21A_ENST00000541463.2_Frame_Shift_Del_p.P1488fs Q7Z4S6 KI21A_HUMAN kinesin family member 21A 1541 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 86 Lung NSC(34;0.179)|all_lung(34;0.213) ATCATAATGAGGGGGTTCAAA 0.388 16 67 --- --- --- --- SMARCC2 6601 broad.mit.edu 37 12 56558395 56558397 + In_Frame_Del DEL GGC GGC - rs75924441 byFrequency TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr12:56558395_56558397delGGC ENST00000550164.1 - 28 3365_3367 c.3351_3353delGCC c.(3349-3354)ccgcct>cct p.1117_1118PP>P SMARCC2_ENST00000347471.4_Intron|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000394023.3_Intron|SMARCC2_ENST00000267064.4_In_Frame_Del_p.1086_1087PP>P Q8TAQ2 SMRC2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 1086 Pro-rich. HGHHHHLPFA -> MGSPPSPVR (in Ref. 1; AAC50694). chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex DNA binding|protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(18;0.123) AGGAGGAGGAGGCGGCATGCCAA 0.581 14 41 --- --- --- --- IRAK3 11213 broad.mit.edu 37 12 66610954 66610954 + Frame_Shift_Del DEL A A - TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr12:66610954delA ENST00000261233.4 + 6 1013 c.592delA c.(592-594)aaafs p.K199fs IRAK3_ENST00000457197.2_Frame_Shift_Del_p.K138fs NM_007199.2 NP_009130.2 Q9Y616 IRAK3_HUMAN interleukin-1 receptor-associated kinase 3 199 Protein kinase. interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan cytoplasm|nucleus ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(28;0.0203) TATGTAGGAGAAAAAAATGCA 0.363 7 1467 --- --- --- --- TOX4 9878 broad.mit.edu 37 14 21961060 21961062 + In_Frame_Del DEL GCT GCT - TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr14:21961060_21961062delGCT ENST00000405508.1 + 8 1561_1563 c.1285_1287delGCT c.(1285-1287)gctdel p.A434del TOX4_ENST00000448790.2_In_Frame_Del_p.A411del|TOX4_ENST00000262709.3_In_Frame_Del_p.A434del O94842 TOX4_HUMAN TOX high mobility group box family member 4 434 Gln/Pro-rich.|Poly-Ala. chromatin|nucleus|PTW/PP1 phosphatase complex DNA binding|protein binding p.A429A(1) large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(95;0.000465) Epithelial(56;6.61e-06)|all cancers(55;5.15e-05) GBM - Glioblastoma multiforme(265;0.0149) GGCAGCAGCAGCTGCTGCTGCTG 0.581 7 284 --- --- --- --- PLEKHG3 26030 broad.mit.edu 37 14 65203590 65203604 + In_Frame_Del DEL CAGGCAACTCAACGA CAGGCAACTCAACGA - TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr14:65203590_65203604delCAGGCAACTCAACGA ENST00000247226.7 + 11 1505_1519 c.1197_1211delCAGGCAACTCAACGA c.(1195-1212)ctcaggcaactcaacgag>ctg p.RQLNE400del PLEKHG3_ENST00000394691.1_In_Frame_Del_p.RQLNE456del NM_015549.1 NP_056364.1 A1L390 PKHG3_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 3 456 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity p.N403N(1)|p.Q401H(1) endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2) 29 all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485) AACACCTGCTCAGGCAACTCAACGAGAAAGGTGAG 0.628 9 23 --- --- --- --- AP003900.6 0 broad.mit.edu 37 21 11181165 11181165 + RNA DEL G G - TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr21:11181165delG ENST00000603265.1 + 0 231 AGGGTATCCTGGATGCGAGCT 0.498 10 408 --- --- --- --- TPTEP1 387590 broad.mit.edu 37 22 17131536 17131537 + RNA INS - - CTG rs34452519 TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr22:17131536_17131537insCTG ENST00000426585.1 + 0 2562_2563 TGCCCACTCTTCTGGTCTCATG 0.540 2 4 --- --- --- --- ISX-AS1 101926957 broad.mit.edu 37 22 35411462 35411462 + RNA DEL A A - TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce49c32-403b-4bc1-9184-ec12016ef096 1654d4f6-c0ea-4a54-85f4-ce8ee96f432f g.chr22:35411462delA ENST00000448318.4 - 0 836 cctggaagagaaaaaggaTGC 0.522 2 4 --- --- --- ---