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 FAM169B 283777 broad.mit.edu 37 15 99023882 99023882 + Missense_Mutation SNP T T A TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr15:99023882T>A ENST00000558256.1 - 4 380 c.131A>T c.(130-132)aAa>aTa p.K44I FAM169B_ENST00000332908.4_Missense_Mutation_p.K44I NM_182562.2 NP_872368.2 Q8N8A8 F169B_HUMAN family with sequence similarity 169, member B 44 large_intestine(3)|lung(3)|urinary_tract(1) 7 CCACAGGATTTTAGCTTGTTC 0.453000 18 76 0 0 1 0 0 ZFP28 140612 broad.mit.edu 37 19 57050546 57050546 + Silent SNP C C T TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr19:57050546C>T ENST00000301318.3 + 1 230 c.159C>T c.(157-159)ctC>ctT p.L53L ZFP28_ENST00000591844.1_Silent_p.L53L|ZFP28_ENST00000594386.1_3'UTR NM_020828.1 NP_065879.1 Q8NHY6 ZFP28_HUMAN ZFP28 zinc finger protein 53 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 35 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0302) GGAATGGCCTCGCATCCAAAG 0.697000 5 8 0 0 1 0 0 ERBB3 2065 broad.mit.edu 37 12 56495393 56495393 + Missense_Mutation SNP G G A TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr12:56495393G>A ENST00000267101.3 + 28 4023 c.3583G>A c.(3583-3585)Gag>Aag p.E1195K ERBB3_ENST00000549832.1_Missense_Mutation_p.E315K|ERBB3_ENST00000450146.2_Missense_Mutation_p.E552K|ERBB3_ENST00000415288.2_Missense_Mutation_p.E1136K|RP11-603J24.9_ENST00000548861.1_Intron|ERBB3_ENST00000553131.1_Missense_Mutation_p.E436K NM_001982.3 NP_001973.2 P21860 ERBB3_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 1195 cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) AGATGAAGATGAGGAGTATGA 0.532000 13 38 0 0 1 0 0 GAREM 64762 broad.mit.edu 37 18 29848516 29848516 + Missense_Mutation SNP T T A TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr18:29848516T>A ENST00000399218.4 - 6 2001 c.1946A>T c.(1945-1947)tAt>tTt p.Y649F GAREM_ENST00000269209.6_Missense_Mutation_p.Y650F NM_001242409.1|NM_022751.2 NP_001229338.1|NP_073588.1 GRB2 associated, regulator of MAPK1 AGGGTAACTATAACTCCTGCT 0.527000 9 40 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16895685 16895685 + Missense_Mutation SNP C C G TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr1:16895685C>G ENST00000430580.2 - 23 3384 c.2497G>C c.(2497-2499)Gat>Cat p.D833H NBPF1_ENST00000287968.8_3'UTR|NBPF1_ENST00000420031.2_3'UTR|NBPF1_ENST00000432949.1_Intron NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 833 NBPF 4. cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TAACCTTCATCCCAGGACTCC 0.478000 22 344 0 0 1 0 0 ALOX15 246 broad.mit.edu 37 17 4534988 4534988 + Silent SNP G G A TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr17:4534988G>A ENST00000570836.1 - 15 1992 c.1896C>T c.(1894-1896)gcC>gcT p.A632A ALOX15_ENST00000293761.3_Silent_p.A632A|ALOX15_ENST00000574640.1_Silent_p.A593A|ALOX15_ENST00000545513.1_Silent_p.A654A P16050 LOX15_HUMAN arachidonate 15-lipoxygenase 632 Lipoxygenase. inflammatory response|leukotriene biosynthetic process nucleus arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5) 20 READ - Rectum adenocarcinoma(115;0.0327) Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744) CCTTATCCAGGGCAGCCAGCT 0.582000 36 124 0 0 1 0 0 FXYD1 5348 broad.mit.edu 37 19 35632082 35632082 + Silent SNP C C G TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr19:35632082C>G ENST00000588081.1 + 3 199 c.141C>G c.(139-141)ctC>ctG p.L47L CTD-2527I21.4_ENST00000592174.1_RNA|FXYD1_ENST00000589209.1_Silent_p.L47L|FXYD1_ENST00000588715.1_Silent_p.L47L|FXYD1_ENST00000588607.1_Silent_p.L47L|LGI4_ENST00000493050.1_Intron|FXYD1_ENST00000455515.2_Silent_p.L47L|FXYD1_ENST00000351325.4_Silent_p.L47L O00168 PLM_HUMAN FXYD domain containing ion transport regulator 1 47 muscle contraction chloride channel complex|integral to plasma membrane chloride channel activity lung(3) 3 all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162) Epithelial(14;2.32e-21)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;2.43e-18)|LUSC - Lung squamous cell carcinoma(66;0.0849) CCGGGATCCTCTTCATCCTGG 0.647000 9 38 0 0 1 0 0 ZNF280B 140883 broad.mit.edu 37 22 22843645 22843645 + Missense_Mutation SNP C C G TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr22:22843645C>G ENST00000360412.2 - 4 854 c.79G>C c.(79-81)Gat>Cat p.D27H ZNF280B_ENST00000406426.1_Missense_Mutation_p.D27H NM_080764.2 NP_542942.1 Q86YH2 Z280B_HUMAN zinc finger protein 280B 27 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2) 22 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22) READ - Rectum adenocarcinoma(21;0.145) AGCTCAGCATCTTCGTCATCT 0.373000 35 100 0 0 1 0 0 BCL9L 283149 broad.mit.edu 37 11 118772025 118772025 + Silent SNP G G A TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr11:118772025G>A ENST00000334801.3 - 6 3391 c.2427C>T c.(2425-2427)ccC>ccT p.P809P BCL9L_ENST00000526143.1_5'UTR NM_182557.2 NP_872363.1 Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like 809 Met-rich. negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 56 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) TGAGGCCCTGGGGCCCCATCA 0.607000 11 39 0 0 1 0 0 CDKN2A 1029 broad.mit.edu 37 9 21970900 21970900 + Missense_Mutation SNP C C A TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr9:21970900C>A ENST00000497750.1 - 2 379 c.305G>T c.(304-306)gGt>gTt p.G102V CDKN2A_ENST00000498628.2_Splice_Site|CDKN2A_ENST00000578845.2_Splice_Site|CDKN2A_ENST00000479692.2_Splice_Site|CDKN2A_ENST00000530628.2_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000494262.1_Splice_Site|CDKN2A_ENST00000579122.1_Intron|CDKN2A_ENST00000446177.1_Splice_Site|CDKN2A_ENST00000304494.5_Splice_Site|CDKN2A_ENST00000361570.3_Splice_Site|CDKN2A_ENST00000498124.1_Splice_Site|CDKN2A_ENST00000579755.1_Splice_Site P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 0 A -> E (in LFS; somatic mutation).|A -> T (in dbSNP:rs35741010). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(12)|p.0(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) TCAGTCCTCACCTGAGGGACC 0.597000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 13 26 1.61879e-10 1.81821e-10 1 1 0 ZNF224 7767 broad.mit.edu 37 19 44612185 44612185 + Silent SNP C C G TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr19:44612185C>G ENST00000336976.6 + 6 2126 c.1872C>G c.(1870-1872)ctC>ctG p.L624L AC084219.4_ENST00000592946.1_RNA NM_013398.2 NP_037530.2 Q9NZL3 ZN224_HUMAN zinc finger protein 224 624 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1) 19 Prostate(69;0.0435) AAACACCTCTCAAATGTGAGC 0.453000 12 64 0 0 1 0 0 HELZ 9931 broad.mit.edu 37 17 65134094 65134094 + Missense_Mutation SNP T T G TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr17:65134094T>G ENST00000358691.5 - 22 3072 c.2906A>C c.(2905-2907)aAa>aCa p.K969T HELZ_ENST00000580168.1_Missense_Mutation_p.K970T NM_014877.3 NP_055692.2 helicase with zinc finger NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) TAATCTCTTTTTTCGAAGTTC 0.383000 20 76 0 0 1 0 0 IL6ST 3572 broad.mit.edu 37 5 55256304 55256304 + Missense_Mutation SNP C C T TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr5:55256304C>T ENST00000381298.2 - 8 1211 c.899G>A c.(898-900)cGc>cAc p.R300H IL6ST_ENST00000502326.3_Missense_Mutation_p.R300H|IL6ST_ENST00000336909.5_Missense_Mutation_p.R300H|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000536319.1_Missense_Mutation_p.R300H|IL6ST_ENST00000381287.4_Missense_Mutation_p.R300H|IL6ST_ENST00000522633.2_Missense_Mutation_p.R300H|IL6ST_ENST00000381294.3_Missense_Mutation_p.R300H|IL6ST_ENST00000381293.2_Missense_Mutation_p.R134H NM_001190981.1|NM_002184.3|NM_175767.2 NP_001177910.1|NP_002175.2|NP_786943.1 P40189 IL6RB_HUMAN interleukin 6 signal transducer (gp130, oncostatin M receptor) 300 Fibronectin type-III 2. interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223) CTTCATACAGCGAATCCTAAA 0.403000 O hepatocellular ca 13 37 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113651006 113651006 + Missense_Mutation SNP G G C TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr8:113651006G>C ENST00000297405.5 - 21 3689 c.3445C>G c.(3445-3447)Ctc>Gtc p.L1149V CSMD3_ENST00000352409.3_Missense_Mutation_p.L1149V|CSMD3_ENST00000455883.2_Missense_Mutation_p.L1045V|CSMD3_ENST00000343508.3_Missense_Mutation_p.L1109V NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1149 CUB 6. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TTTCCATAGAGACCAGCATTG 0.383000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 14 78 0 0 1 0 0 PCDHB6 56130 broad.mit.edu 37 5 140530440 140530440 + Missense_Mutation SNP G G A TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr5:140530440G>A ENST00000231136.1 + 1 602 c.602G>A c.(601-603)cGc>cAc p.R201H PCDHB6_ENST00000543635.1_Missense_Mutation_p.R65H NM_018939.2 NP_061762.1 Q9Y5E3 PCDB6_HUMAN 201 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding p.R201H(1) cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 84 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCGTTGGACCGCGAGGAGCAG 0.602000 20 63 0 0 1 0 0 TMEM246 84302 broad.mit.edu 37 9 104238191 104238191 + Missense_Mutation SNP C C T TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr9:104238191C>T ENST00000374851.1 - 4 2331 c.1184G>A c.(1183-1185)cGg>cAg p.R395Q RP11-490D19.6_ENST00000425734.1_RNA|RP11-490D19.6_ENST00000450109.1_RNA|RP11-490D19.6_ENST00000431507.1_RNA|RP11-490D19.6_ENST00000424154.1_RNA|TMEM246_ENST00000374847.1_Missense_Mutation_p.R395Q|TMEM246_ENST00000374848.3_Missense_Mutation_p.R395Q Q9BRR3 CI125_HUMAN transmembrane protein 246 395 integral to membrane AAAGTTGTACCGGAGACTGGA 0.483000 6 73 0 0 1 0 0 GRIN2B 2904 broad.mit.edu 37 12 13715930 13715930 + Silent SNP C C T TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr12:13715930C>T ENST00000279593.3 - 13 4451 c.4242G>A c.(4240-4242)gcG>gcA p.A1414A NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 1414 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TGGCTTTCGACGCCCCCGCCA 0.617000 7 22 0 0 1 0 0 NID2 22795 broad.mit.edu 37 14 52481889 52481889 + Missense_Mutation SNP C C A TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr14:52481889C>A ENST00000216286.5 - 15 3132 c.3133G>T c.(3133-3135)Gac>Tac p.D1045Y NID2_ENST00000541773.1_Missense_Mutation_p.D944Y NM_007361.3 NP_031387.3 Q14112 NID2_HUMAN nidogen 2 (osteonidogen) 1045 Thyroglobulin type-1 2. basement membrane calcium ion binding|collagen binding NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 87 Breast(41;0.0639)|all_epithelial(31;0.123) TGGCCCAGGTCATCGCACTGG 0.647000 4 50 0.150653 0.151632 1 1 0 ZFPM2 23414 broad.mit.edu 37 8 106811156 106811156 + Missense_Mutation SNP T T A TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr8:106811156T>A ENST00000407775.2 + 7 1194 c.944T>A c.(943-945)aTg>aAg p.M315K ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.M46K|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.M183K|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.M183K|RP11-152P17.2_ENST00000521622.1_RNA NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 315 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) GCTCTAGAAATGCACCTGAAT 0.428000 24 96 0 0 1 0 0 PACS1 55690 broad.mit.edu 37 11 66001279 66001279 + Missense_Mutation SNP C C T TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr11:66001279C>T ENST00000320580.4 + 16 1895 c.1862C>T c.(1861-1863)cCg>cTg p.P621L PACS1_ENST00000529757.1_Missense_Mutation_p.P157L NM_018026.3 NP_060496.2 Q6VY07 PACS1_HUMAN phosphofurin acidic cluster sorting protein 1 621 interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction cytosol protein binding RBM14/PACS1(2) breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1) 37 TCTTCCATGCCGAGGCCAGTG 0.612000 9 45 0 0 1 0 0 SPI1 6688 broad.mit.edu 37 11 47377022 47377022 + Missense_Mutation SNP C C A TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr11:47377022C>A ENST00000378538.3 - 5 791 c.569G>T c.(568-570)tGg>tTg p.W190L SPI1_ENST00000533030.1_3'UTR|SPI1_ENST00000227163.4_Missense_Mutation_p.W191L NM_001080547.1|NM_003120.2 NP_001074016.1|NP_003111.2 P17947 SPI1_HUMAN spleen focus forming virus (SFFV) proviral integration oncogene 190 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation nucleus protein binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1) 8 Lung(87;0.0967) GTCCACCCACCAGATGCTGTC 0.632000 6 50 8.12818e-05 8.62924e-05 1 1 0 GLP2R 9340 broad.mit.edu 37 17 9792828 9792828 + Missense_Mutation SNP C C T TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr17:9792828C>T ENST00000262441.5 + 13 1981 c.1468C>T c.(1468-1470)Ctt>Ttt p.L490F GLP2R_ENST00000574745.1_Missense_Mutation_p.L310F NM_004246.1 NP_004237.1 O95838 GLP2R_HUMAN glucagon-like peptide 2 receptor 490 G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation integral to membrane|plasma membrane endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 44 Glucagon recombinant(DB00040) CGCTGAGAAGCTTCGGAAGCT 0.612000 41 47 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237817654 237817654 + Missense_Mutation SNP A A C TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr1:237817654A>C ENST00000366574.2 + 52 8222 c.7905A>C c.(7903-7905)gaA>gaC p.E2635D RYR2_ENST00000360064.6_Missense_Mutation_p.E2633D|RYR2_ENST00000542537.1_Missense_Mutation_p.E2619D NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 2635 4 X approximate repeats.|Modulator (Potential). 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) CTGCCTCAGAAGAAGAACTTC 0.383000 6 27 0 0 1 0 0 SLFN12 55106 broad.mit.edu 37 17 33749590 33749590 + Missense_Mutation SNP C C G TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr17:33749590C>G ENST00000394562.1 - 4 981 c.458G>C c.(457-459)aGa>aCa p.R153T SLFN12_ENST00000304905.5_Missense_Mutation_p.R153T|SLFN12_ENST00000452764.3_Missense_Mutation_p.R153T Q8IYM2 SLN12_HUMAN schlafen family member 12 153 ATP binding breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 18 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CAATCTCCCTCTAGTCTTTTT 0.408000 9 60 0 0 1 0 0 ZNF2 7549 broad.mit.edu 37 2 95846949 95846949 + Missense_Mutation SNP G G C TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr2:95846949G>C ENST00000398107.2 + 4 772 c.250G>C c.(250-252)Gaa>Caa p.E84Q ZNF2_ENST00000340539.5_Missense_Mutation_p.E126Q|ZNF2_ENST00000295210.6_Missense_Mutation_p.E88Q|ZNF2_ENST00000453539.2_Missense_Mutation_p.E139Q|ZNF2_ENST00000425369.1_Missense_Mutation_p.E46Q NM_001017396.1 NP_001017396.1 Q9BSG1 ZNF2_HUMAN zinc finger protein 2 126 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1) 12 Ovarian(717;0.00768) READ - Rectum adenocarcinoma(193;0.0222) TCCTAAATTTGAAGTTCATAC 0.493000 5 86 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62291818 62291818 + Silent SNP A A G TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr11:62291818A>G ENST00000378024.4 - 5 10345 c.10071T>C c.(10069-10071)ttT>ttC p.F3357F AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 3357 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) CCGAAAAATTAAATTTGGGAA 0.403000 6 95 0 0 1 0 0 INPP5F 22876 broad.mit.edu 37 10 121586558 121586558 + Missense_Mutation SNP C C G TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr10:121586558C>G ENST00000361976.2 + 20 2831 c.2665C>G c.(2665-2667)Ctt>Gtt p.L889V INPP5F_ENST00000369080.3_Missense_Mutation_p.L279V NM_014937.3 NP_055752.1 Q9Y2H2 SAC2_HUMAN inositol polyphosphate-5-phosphatase F 889 phosphoric ester hydrolase activity breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 42 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158) AGATTACGTTCTTCCTAGTTG 0.453000 18 73 0 0 1 0 0 TMCC2 9911 broad.mit.edu 37 1 205210900 205210900 + Missense_Mutation SNP C C T TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr1:205210900C>T ENST00000358024.3 + 2 864 c.475C>T c.(475-477)Ccc>Tcc p.P159S TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000545499.1_Missense_Mutation_p.P81S NM_014858.3 NP_055673.2 O75069 TMCC2_HUMAN transmembrane and coiled-coil domain family 2 159 integral to membrane protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1) 20 Breast(84;0.0871) BRCA - Breast invasive adenocarcinoma(75;0.117) CCGCTCCCGGCCCTCCATCAA 0.716000 7 18 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179428531 179428531 + Missense_Mutation SNP C C T TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr2:179428531C>T ENST00000589042.1 - 326 82552 c.82328G>A c.(82327-82329)cGt>cAt p.R27443H TTN_ENST00000460472.2_Missense_Mutation_p.R18378H|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R18570H|TTN_ENST00000591111.1_Missense_Mutation_p.R25802H|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R24875H|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R18503H NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 25802 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) AGCCATGACACGGAAAATGTA 0.473000 18 86 0 0 1 0 0 USP6 9098 broad.mit.edu 37 17 5072206 5072206 + Missense_Mutation SNP C C A TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr17:5072206C>A ENST00000574788.1 + 35 5603 c.3373C>A c.(3373-3375)Ccc>Acc p.P1125T USP6_ENST00000304328.5_Missense_Mutation_p.P808T|USP6_ENST00000332776.4_3'UTR|USP6_ENST00000250066.6_Missense_Mutation_p.P1125T P35125 UBP6_HUMAN ubiquitin specific peptidase 6 (Tre-2 oncogene) 1125 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 ACCACTCACACCCCAGGGGGA 0.502000 T """COL1A1, CDH11, ZNF9, OMD""" aneurysmal bone cysts 66 69 2.26907e-38 2.68477e-38 1 1 0 FANCM 57697 broad.mit.edu 37 14 45658278 45658278 + Missense_Mutation SNP G G C TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr14:45658278G>C ENST00000267430.5 + 20 5138 c.5053G>C c.(5053-5055)Gaa>Caa p.E1685Q FANCM_ENST00000542564.2_Missense_Mutation_p.E1659Q NM_020937.2 NP_065988.1 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 1685 DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 85 TGATAAAAGAGAATCTAATAT 0.353000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 4 72 0 0 1 0 0 LRCH3 84859 broad.mit.edu 37 3 197556504 197556504 + Missense_Mutation SNP C C G TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr3:197556504C>G ENST00000438796.2 + 6 891 c.847C>G c.(847-849)Ctg>Gtg p.L283V LRCH3_ENST00000414675.2_Missense_Mutation_p.L283V|LRCH3_ENST00000334859.4_Missense_Mutation_p.L283V|LRCH3_ENST00000536618.1_5'UTR|LRCH3_ENST00000425562.2_Missense_Mutation_p.L283V|LRCH3_ENST00000441090.2_Missense_Mutation_p.L157V Q96II8 LRCH3_HUMAN leucine-rich repeats and calponin homology (CH) domain containing 3 283 extracellular region breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.119) TGCTCCAGATCTGCCGGATTA 0.348000 4 75 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25436596 25436596 + RNA SNP G G C TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr15:25436596G>C ENST00000424208.1 + 0 1092 SNHG14_ENST00000414175.1_RNA|SNORD115-12_ENST00000362583.1_RNA NR_003305.1 TTGTCCTGAAGAGAGGTGATG 0.527000 14 437 0 0 1 0 0 NFATC2IP 84901 broad.mit.edu 37 16 28967572 28967572 + Missense_Mutation SNP G G A TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr16:28967572G>A ENST00000320805.4 + 5 835 c.760G>A c.(760-762)Gaa>Aaa p.E254K NFATC2IP_ENST00000564978.1_Intron|NFATC2IP_ENST00000562977.1_Intron NM_032815.3 NP_116204.3 Q8NCF5 NF2IP_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein 254 cytoplasm|nucleus breast(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(2) 11 GGTCTTGGTGGAAGGGCCCAC 0.607000 7 37 0 0 1 0 0 HEATR1 55127 broad.mit.edu 37 1 236717934 236717934 + Silent SNP C C T TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr1:236717934C>T ENST00000366582.3 - 42 6156 c.6042G>A c.(6040-6042)gaG>gaA p.E2014E HEATR1_ENST00000366581.2_Silent_p.E1933E NM_018072.5 NP_060542.4 Q9H583 HEAT1_HUMAN HEAT repeat containing 1 2014 rRNA processing nucleolus|ribonucleoprotein complex protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 87 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) CTTCTGCTCTCTCTTTACTTA 0.408000 15 71 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577058 7577058 + Nonsense_Mutation SNP C C A TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr17:7577058C>A ENST00000420246.2 - 8 1012 c.880G>T c.(880-882)Gag>Tag p.E294* TP53_ENST00000445888.2_Nonsense_Mutation_p.E294*|TP53_ENST00000269305.4_Nonsense_Mutation_p.E294*|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.E294*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E294* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 294 Interaction with E4F1.|Interaction with HIPK1 (By similarity). E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.E294*(46)|p.E294fs*51(9)|p.K291fs*48(8)|p.0?(8)|p.E294K(3)|p.E294fs*12(3)|p.?(2)|p.E294Q(2)|p.L265_K305del41(1)|p.E294>*(1)|p.G293fs*1(1)|p.R290fs*50(1)|p.R290_P295>X(1)|p.E294fs*11(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TGGTGAGGCTCCCCTTTCTTG 0.567000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 23 37 1.42536e-11 1.61263e-11 1 1 0 GIT1 28964 broad.mit.edu 37 17 27903261 27903261 + Missense_Mutation SNP G G A TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr17:27903261G>A ENST00000225394.3 - 14 1836 c.1588C>T c.(1588-1590)Cgg>Tgg p.R530W GIT1_ENST00000581348.1_Missense_Mutation_p.R539W|GIT1_ENST00000394869.3_Missense_Mutation_p.R539W|GIT1_ENST00000579937.1_Missense_Mutation_p.R530W|RP11-68I3.2_ENST00000581474.1_RNA NM_014030.3 NP_054749.2 Q9Y2X7 GIT1_HUMAN G protein-coupled receptor kinase interacting ArfGAP 1 530 regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|focal adhesion ARF GTPase activator activity|protein binding|zinc ion binding large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069) GGCTGCAGCCGCGTAGTGAGC 0.642000 37 98 0 0 1 0 0 UAP1 6675 broad.mit.edu 37 1 162546694 162546694 + Missense_Mutation SNP T T G TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr1:162546694T>G ENST00000271469.3 + 3 710 c.408T>G c.(406-408)ttT>ttG p.F136L UAP1_ENST00000367926.4_Missense_Mutation_p.F136L|UAP1_ENST00000367924.1_Missense_Mutation_p.F136L|UAP1_ENST00000367925.1_Missense_Mutation_p.F136L Q16222 UAP1_HUMAN UDP-N-acteylglucosamine pyrophosphorylase 1 136 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol|nucleus|plasma membrane UDP-N-acetylglucosamine diphosphorylase activity breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1) 22 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.126) AGACACTTTTTCAGATTCAAG 0.438000 8 88 0 0 1 0 0 ECI2 10455 broad.mit.edu 37 6 4133832 4133832 + Missense_Mutation SNP T T C TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr6:4133832T>C ENST00000465828.1 - 2 359 c.74A>G c.(73-75)aAg>aGg p.K25R ECI2_ENST00000380118.3_Missense_Mutation_p.K55R|ECI2_ENST00000413766.2_5'UTR|ECI2_ENST00000361538.2_Missense_Mutation_p.K25R|ECI2_ENST00000380125.2_Missense_Mutation_p.K25R O75521 ECI2_HUMAN enoyl-CoA delta isomerase 2 55 fatty acid metabolic process mitochondrion|peroxisomal matrix dodecenoyl-CoA delta-isomerase activity|fatty-acyl-CoA binding endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1) 11 TCCTGGATCCTTTTTCAAGAG 0.398000 4 126 0 0 1 0 0 SLC4A5 57835 broad.mit.edu 37 2 74454158 74454158 + Missense_Mutation SNP G G C rs146665416 byFrequency TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr2:74454158G>C ENST00000394019.2 - 27 3413 c.3016C>G c.(3016-3018)Ctg>Gtg p.L1006V SLC4A5_ENST00000377634.4_Missense_Mutation_p.L1022V|SLC4A5_ENST00000358683.4_Missense_Mutation_p.L904V|SLC4A5_ENST00000346834.4_Intron|SLC4A5_ENST00000423644.1_Missense_Mutation_p.P946R|SLC4A5_ENST00000359484.4_Missense_Mutation_p.L904V|SLC4A5_ENST00000357822.5_Missense_Mutation_p.L1022V|SLC4A5_ENST00000377632.1_Intron|SLC4A5_ENST00000483195.1_5'UTR|RP11-287D1.3_ENST00000451608.2_3'UTR NM_133478.2 NP_597812.1 Q9BY07 S4A5_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 5 1022 apical plasma membrane|integral to membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 ATCTGCACCAGGGTGAAGAGG 0.632000 12 69 0 0 1 0 0 GRAP2 9402 broad.mit.edu 37 22 40365485 40365485 + Missense_Mutation SNP C C T TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr22:40365485C>T ENST00000344138.4 + 7 1024 c.761C>T c.(760-762)gCg>gTg p.A254V GRAP2_ENST00000399090.2_Missense_Mutation_p.A141V|GRAP2_ENST00000543252.1_Missense_Mutation_p.A214V|GRAP2_ENST00000407075.3_Missense_Mutation_p.A254V|GRAP2_ENST00000540310.1_Missense_Mutation_p.A188V|GRAP2_ENST00000544756.1_Missense_Mutation_p.A182V NM_004810.2 NP_004801.1 O75791 GRAP2_HUMAN GRB2-related adaptor protein 2 254 cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway cytosol SH3/SH2 adaptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 14 GAAATGAATGCGGCCCTCATG 0.572000 4 62 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 142004875 142004875 + Missense_Mutation SNP T T C TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr2:142004875T>C ENST00000389484.3 - 5 1483 c.512A>G c.(511-513)aAc>aGc p.N171S NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 171 EGF-like 2; calcium-binding (Potential). 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) TCCATGTGTGTTTCTGCAGGT 0.403000 TSP Lung(27;0.18) 20 76 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56716356 56716356 + Missense_Mutation SNP T T C TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr6:56716356T>C ENST00000370754.5 - 4 463 c.464A>G c.(463-465)gAt>gGt p.D155G RP11-472M19.2_ENST00000426453.1_RNA Q03001 DYST_HUMAN dystonin 0 Actin-binding.|CH 2. cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) ATCGGAAAAATCCGCAGAGGA 0.473000 OREG0017515 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 AGMO 392636 broad.mit.edu 37 7 15599873 15599873 + Missense_Mutation SNP C C G TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr7:15599873C>G ENST00000342526.3 - 2 319 c.150G>C c.(148-150)ttG>ttC p.L50F NM_001004320.1 NP_001004320.1 Q6ZNB7 ALKMO_HUMAN alkylglycerol monooxygenase 50 ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process endoplasmic reticulum membrane|integral to membrane glyceryl-ether monooxygenase activity|iron ion binding breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2) 42 CAAGCAGCATCAAAGAAATGA 0.403000 14 66 0 0 1 0 0 LSM14B 149986 broad.mit.edu 37 20 60705703 60705703 + Missense_Mutation SNP G G A TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr20:60705703G>A ENST00000253001.4 + 6 997 c.791G>A c.(790-792)cGa>cAa p.R264Q LSM14B_ENST00000279068.6_Missense_Mutation_p.R264Q Q9BX40 LS14B_HUMAN LSM14B, SCD6 homolog B (S. cerevisiae) 264 DFDF. multicellular organismal development|regulation of translation ribonucleoprotein complex endometrium(3)|kidney(1)|lung(4) 8 Breast(26;3.97e-09) BRCA - Breast invasive adenocarcinoma(19;1.28e-07) CAGTTCAACCGAGAGGAGCTT 0.398000 8 26 0 0 1 0 0 PDE2A 5138 broad.mit.edu 37 11 72295279 72295279 + Missense_Mutation SNP G G A TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr11:72295279G>A ENST00000334456.5 - 19 1861 c.1616C>T c.(1615-1617)gCc>gTc p.A539V PDE2A_ENST00000418754.2_Missense_Mutation_p.A424V|PDE2A_ENST00000540345.1_Missense_Mutation_p.A530V|PDE2A_ENST00000376450.3_Missense_Mutation_p.A283V|PDE2A_ENST00000444035.2_Missense_Mutation_p.A530V|PDE2A_ENST00000544570.1_Missense_Mutation_p.A532V NM_002599.4 NP_002590.1 O00408 PDE2A_HUMAN phosphodiesterase 2A, cGMP-stimulated 539 GAF 2. platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 36 BRCA - Breast invasive adenocarcinoma(5;3.55e-05) Sildenafil(DB00203)|Sulindac(DB00605) GATGGAGAAGGCCGTCGCCAG 0.637000 10 26 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113668571 113668571 + Splice_Site SNP C C A TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr8:113668571C>A ENST00000297405.5 - 18 3061 c.e18-1 CSMD3_ENST00000352409.3_Splice_Site|CSMD3_ENST00000455883.2_Splice_Site|CSMD3_ENST00000343508.3_Splice_Site NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 integral to membrane|plasma membrane p.?(2) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 AGTCTGAAATCTAAGATTAAA 0.338000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 11 43 0.000978159 0.00100407 1 1 0 HMBS 3145 broad.mit.edu 37 11 118963891 118963891 + Silent SNP G G A TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr11:118963891G>A ENST00000537841.1 + 14 1224 c.933G>A c.(931-933)caG>caA p.Q311Q HMBS_ENST00000392841.1_Silent_p.Q311Q|HMBS_ENST00000278715.3_Silent_p.Q328Q|HMBS_ENST00000544387.1_Silent_p.Q288Q|HMBS_ENST00000442944.2_Silent_p.Q311Q|HMBS_ENST00000542729.1_Silent_p.Q271Q|HMBS_ENST00000543090.1_Silent_p.Q297Q P08397 HEM3_HUMAN hydroxymethylbilane synthase 328 peptidyl-pyrromethane cofactor linkage cytosol hydroxymethylbilane synthase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1) 15 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.72e-05) GAGGGCCCCAGTTGGCTGCCC 0.542000 23 62 0 0 1 0 0 KRT14 3861 broad.mit.edu 37 17 39740159 39740159 + Silent SNP C C G TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr17:39740159C>G ENST00000167586.6 - 4 866 c.780G>C c.(778-780)ctG>ctC p.L260L NM_000526.4 NP_000517.2 P02533 K1C14_HUMAN keratin 14 260 Coil 1B.|Rod. epidermis development|hemidesmosome assembly|intermediate filament bundle assembly cytosol|keratin filament|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1) 25 Breast(137;0.000307) CCTGGCCTCTCAGGGCATTCA 0.577000 4 79 0 0 1 0 0 SMTNL2 342527 broad.mit.edu 37 17 4510712 4510712 + Missense_Mutation SNP G G A TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr17:4510712G>A ENST00000389313.4 + 8 1383 c.1316G>A c.(1315-1317)cGc>cAc p.R439H SMTNL2_ENST00000338859.4_Missense_Mutation_p.R295H NM_001114974.1 NP_001108446.1 Q2TAL5 SMTL2_HUMAN smoothelin-like 2 439 CH. breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1) 13 READ - Rectum adenocarcinoma(115;0.0325) GTGATGGGCCGCAAGCCGGAC 0.582000 4 171 0 0 1 0 0 NCAM1 4684 broad.mit.edu 37 11 113126633 113126633 + Missense_Mutation SNP G G A TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr11:113126633G>A ENST00000316851.7 + 14 1833 c.1833G>A c.(1831-1833)atG>atA p.M611I NCAM1_ENST00000533760.1_Missense_Mutation_p.M493I|NCAM1_ENST00000397957.4_3'UTR NM_001242607.1|NM_181351.4 NP_001229536.1|NP_851996.2 P13591 NCAM1_HUMAN neural cell adhesion molecule 1 621 Fibronectin type-III 2. axon guidance|interferon-gamma-mediated signaling pathway anchored to membrane|extracellular region|Golgi membrane|integral to membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 49 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) AAGGGCAGATGGGAGAGGATG 0.502000 4 13 0 0 1 0 0 GPR141 353345 broad.mit.edu 37 7 37780629 37780629 + Missense_Mutation SNP C C T TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr7:37780629C>T ENST00000447769.1 + 4 923 c.634C>T c.(634-636)Cgc>Tgc p.R212C GPR141_ENST00000461610.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.R212C|EPDR1_ENST00000476620.1_Intron Q7Z602 GP141_HUMAN G protein-coupled receptor 141 212 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 GCAGAAGCTACGCCACTCTTT 0.413000 23 121 0 0 1 0 0 BTN2A3P 54718 broad.mit.edu 37 6 26423441 26423441 + RNA SNP C C G TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr6:26423441C>G ENST00000466808.2 + 0 360 ATAACGGCATCTACCAGTGTT 0.527000 15 55 0 0 1 0 0 FGFR2 2263 broad.mit.edu 37 10 123276852 123276852 + Silent SNP T T C TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr10:123276852T>C ENST00000358487.5 - 8 1337 c.1065A>G c.(1063-1065)gcA>gcG p.A355A FGFR2_ENST00000346997.2_Silent_p.A355A|FGFR2_ENST00000369056.1_Intron|FGFR2_ENST00000360144.3_Intron|FGFR2_ENST00000351936.6_Silent_p.A355A|FGFR2_ENST00000369059.1_Intron|FGFR2_ENST00000457416.2_Intron|FGFR2_ENST00000356226.4_Silent_p.A240A|FGFR2_ENST00000369061.4_Intron|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000478859.1_Silent_p.A127A|FGFR2_ENST00000369060.4_Intron|FGFR2_ENST00000357555.5_Silent_p.A266A NM_000141.4 NP_000132.3 P21802 FGFR2_HUMAN fibroblast growth factor receptor 2 355 Ig-like C2-type 3. angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2) 181 Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107) STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722) all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845) Palifermin(DB00039) CTGTCAACCATGCAGAGTGAA 0.403000 5 Mis """gastric. NSCLC, endometrial""" """Crouzon, Pfeiffer, and Apert syndromes""" Saethre-Chotzen syndrome;Apert syndrome 5 46 0 0 1 0 0 SORL1 6653 broad.mit.edu 37 11 121420792 121420792 + Silent SNP G G A TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr11:121420792G>A ENST00000260197.7 + 15 2304 c.2175G>A c.(2173-2175)acG>acA p.T725T NM_003105.5 NP_003096.1 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 725 cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) ACAGGAGAACGAGAGGGTATG 0.502000 8 31 0 0 1 0 0 KRT31 3881 broad.mit.edu 37 17 39551731 39551731 + Nonsense_Mutation SNP G G A TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr17:39551731G>A ENST00000251645.2 - 4 785 c.733C>T c.(733-735)Caa>Taa p.Q245* NM_002277.2 NP_002268.2 Q15323 K1H1_HUMAN keratin 31 245 Coil 2.|Rod. epidermis development intermediate filament protein binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 31 Breast(137;0.000496) GTGAACCATTGCTCCACTTCC 0.632000 15 82 0 0 1 0 0 TACC3 10460 broad.mit.edu 37 4 1730043 1730043 + Missense_Mutation SNP C C A TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr4:1730043C>A ENST00000313288.4 + 4 1020 c.914C>A c.(913-915)aCc>aAc p.T305N NM_006342.2 NP_006333.1 Q9Y6A5 TACC3_HUMAN transforming, acidic coiled-coil containing protein 3 305 centrosome central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Breast(71;0.212)|all_epithelial(65;0.241) OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126) ACAGCCCCAACCAACCACCTG 0.637000 7 48 0.0381472 0.0386459 1 1 0 SPEN 23013 broad.mit.edu 37 1 16260177 16260177 + Missense_Mutation SNP C C T TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr1:16260177C>T ENST00000375759.3 + 11 7646 c.7442C>T c.(7441-7443)tCa>tTa p.S2481L NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 2481 Pro-rich.|RID. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) GCAAAGCTCTCACCTCCTGTC 0.582000 25 93 0 0 1 0 0 RAB3GAP2 25782 broad.mit.edu 37 1 220364494 220364494 + Missense_Mutation SNP T T C TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr1:220364494T>C ENST00000358951.2 - 14 1519 c.1403A>G c.(1402-1404)tAt>tGt p.Y468C NM_012414.3 NP_036546.2 Q9H2M9 RBGPR_HUMAN RAB3 GTPase activating protein subunit 2 (non-catalytic) 468 intracellular protein transport cytoplasm|soluble fraction GTPase activator activity|protein heterodimerization activity breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1) 39 GBM - Glioblastoma multiforme(131;0.0443) TCTTGGCGCATAGATCACAAG 0.483000 15 67 0 0 1 0 0 GPR50 9248 broad.mit.edu 37 X 150349760 150349760 + Missense_Mutation SNP G G T TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chrX:150349760G>T ENST00000218316.3 + 2 1774 c.1705G>T c.(1705-1707)Gct>Tct p.A569S NM_004224.3 NP_004215.2 Q13585 MTR1L_HUMAN G protein-coupled receptor 50 569 Pro-rich. cell-cell signaling integral to plasma membrane melatonin receptor activity breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 38 Acute lymphoblastic leukemia(192;6.56e-05) TAGCCCTGCCGCTGGGCCCAC 0.602000 28 27 8.24728e-16 9.4691e-16 1 1 0 KCNG1 3755 broad.mit.edu 37 20 49620823 49620823 + Missense_Mutation SNP G G A TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr20:49620823G>A ENST00000371571.4 - 3 1580 c.1295C>T c.(1294-1296)cCc>cTc p.P432L RP5-955M13.4_ENST00000424566.1_RNA|RP5-955M13.3_ENST00000506387.1_RNA NM_002237.3 NP_002228.2 Q9UIX4 KCNG1_HUMAN potassium voltage-gated channel, subfamily G, member 1 432 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 GGTGCTCCTGGGGACCATGTC 0.637000 21 57 0 0 1 0 0 ALDH16A1 126133 broad.mit.edu 37 19 49964134 49964134 + Silent SNP G G A TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr19:49964134G>A ENST00000293350.4 + 5 718 c.555G>A c.(553-555)agG>agA p.R185R ALDH16A1_ENST00000455361.2_Silent_p.R185R|ALDH16A1_ENST00000433981.2_Silent_p.R20R|ALDH16A1_ENST00000540132.1_Silent_p.R22R NM_153329.3 NP_699160.2 Q8IZ83 A16A1_HUMAN aldehyde dehydrogenase 16 family, member A1 185 oxidoreductase activity|protein binding cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3) 20 all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251) TGATGTGGAGGATTTGCCCTG 0.542000 21 58 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126411348 126411348 + Missense_Mutation SNP C C A TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr4:126411348C>A ENST00000394329.3 + 17 13384 c.13371C>A c.(13369-13371)caC>caA p.H4457Q FAT4_ENST00000335110.5_Missense_Mutation_p.H2698Q NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 4457 EGF-like 6. 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 CAGACTCGCACACGGGAAGGA 0.632000 14 92 0.000219431 0.00022981 1 1 0 TACC3 10460 broad.mit.edu 37 4 1730058 1730058 + Missense_Mutation SNP C C A TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr4:1730058C>A ENST00000313288.4 + 4 1035 c.929C>A c.(928-930)gCt>gAt p.A310D NM_006342.2 NP_006333.1 Q9Y6A5 TACC3_HUMAN transforming, acidic coiled-coil containing protein 3 310 centrosome central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Breast(71;0.212)|all_epithelial(65;0.241) OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126) CACCTGGTGGCTGGCAGGGCC 0.597000 7 48 0.27861 0.27861 1 1 0 RNF139 11236 broad.mit.edu 37 8 125498293 125498293 + Missense_Mutation SNP C C G TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr8:125498293C>G ENST00000303545.3 + 2 775 c.403C>G c.(403-405)Cta>Gta p.L135V NM_007218.3 NP_009149.2 Q8WU17 RN139_HUMAN ring finger protein 139 135 negative regulation of cell proliferation|regulation of protein ubiquitination endoplasmic reticulum membrane|integral to membrane protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1) 20 Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) CGTTCTACAGCTAACATTTGG 0.413000 8 102 0 0 1 0 0 TAS2R31 259290 broad.mit.edu 37 12 11183589 11183589 + Missense_Mutation SNP G G A TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr12:11183589G>A ENST00000390675.2 - 1 417 c.346C>T c.(346-348)Ctt>Ttt p.L116F TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron NM_176885.2 NP_795366.2 P59538 T2R31_HUMAN taste receptor, type 2, member 31 116 sensory perception of taste integral to membrane G-protein coupled receptor activity kidney(1)|lung(6) 7 AGAAAAATAAGGTTGGAGAAA 0.393000 4 108 0 0 1 0 0 KRTAP12-4 386684 broad.mit.edu 37 21 46074226 46074226 + Missense_Mutation SNP T T A TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr21:46074226T>A ENST00000391618.1 - 1 350 c.306A>T c.(304-306)agA>agT p.R102S TSPEAR_ENST00000323084.4_Intron NM_198698.1 NP_941971.1 P60329 KR124_HUMAN keratin associated protein 12-4 102 keratin filament lung(4)|ovary(1)|prostate(1) 6 AGGTGACAGGTCTATAGACCA 0.617000 12 52 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228451984 228451984 + Missense_Mutation SNP G G T TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr1:228451984G>T ENST00000570156.2 + 18 5379 c.5305G>T c.(5305-5307)Gtg>Ttg p.V1769L OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.V1585L|OBSCN_ENST00000284548.11_Missense_Mutation_p.V1585L|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.V241L NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 757 Fibronectin type-III 2. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) AATGGAGGCCGTGGGCTGCAC 0.662000 26 73 1.66031e-10 1.85142e-10 1 1 0 PHF3 23469 broad.mit.edu 37 6 64416061 64416061 + Missense_Mutation SNP C C A TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr6:64416061C>A ENST00000262043.3 + 12 3850 c.3510C>A c.(3508-3510)ttC>ttA p.F1170L PHF3_ENST00000393387.1_Missense_Mutation_p.F1170L Q92576 PHF3_HUMAN PHD finger protein 3 1170 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6) 75 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) CTTCTGAATTCTTTGAGGAGG 0.373000 6 47 0.00116845 0.00119151 1 1 0 MINPP1 9562 broad.mit.edu 37 10 89280889 89280889 + Missense_Mutation SNP T T C TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr10:89280889T>C ENST00000371996.4 + 4 1071 c.1030T>C c.(1030-1032)Ttt>Ctt p.F344L MINPP1_ENST00000472891.1_3'UTR|MINPP1_ENST00000371994.4_Intron|MINPP1_ENST00000536010.1_Missense_Mutation_p.F143L NM_004897.4 NP_004888.2 Q9UNW1 MINP1_HUMAN multiple inositol-polyphosphate phosphatase 1 344 F -> S (in Ref. 3; CAB43673). bone mineralization|polyphosphate metabolic process endoplasmic reticulum lumen acid phosphatase activity|bisphosphoglycerate 3-phosphatase activity|multiple inositol-polyphosphate phosphatase activity|phosphohistidine phosphatase activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|urinary_tract(2) 5 Colorectal(252;0.122) UCEC - Uterine corpus endometrioid carcinoma (6;0.00123) TCAGGATATCTTTCAGCACTT 0.318000 4 129 0 0 1 0 0 OR10G9 219870 broad.mit.edu 37 11 123894176 123894176 + Silent SNP C C T TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr11:123894176C>T ENST00000375024.1 + 1 457 c.457C>T c.(457-459)Ctg>Ttg p.L153L NM_001001953.1 NP_001001953.1 Q8NGN4 O10G9_HUMAN olfactory receptor, family 10, subfamily G, member 9 153 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L153V(1) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1) 61 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) CAGTGGCTCTCTGCACTCTGC 0.542000 28 106 0 0 1 0 0 NPAS4 266743 broad.mit.edu 37 11 66188698 66188698 + Missense_Mutation SNP C C G TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr11:66188698C>G ENST00000311034.2 + 1 224 c.48C>G c.(46-48)atC>atG p.I16M NM_178864.3 NP_849195.2 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 16 Helix-loop-helix motif. transcription, DNA-dependent DNA binding|signal transducer activity breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3) 49 GGGACCAGATCAACGCCGAGA 0.677000 9 23 0 0 1 0 0 ANGPTL5 253935 broad.mit.edu 37 11 101762128 101762128 + Missense_Mutation SNP G G C TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr11:101762128G>C ENST00000334289.3 - 9 1644 c.1049C>G c.(1048-1050)tCt>tGt p.S350C NM_178127.4 NP_835228.2 Q86XS5 ANGL5_HUMAN angiopoietin-like 5 350 Fibrinogen C-terminal. signal transduction extracellular space receptor binding breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3) 29 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043) BRCA - Breast invasive adenocarcinoma(274;0.0328) CAATTTTCCAGAGAAGTGATG 0.418000 32 94 0 0 1 0 0 REEP4 80346 broad.mit.edu 37 8 21997501 21997501 + Missense_Mutation SNP T T G TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr8:21997501T>G ENST00000306306.3 - 4 746 c.278A>C c.(277-279)cAc>cCc p.H93P REEP4_ENST00000523293.1_Missense_Mutation_p.H93P|REEP4_ENST00000334530.5_Missense_Mutation_p.H93P NM_025232.2 NP_079508.2 Q9H6H4 REEP4_HUMAN receptor accessory protein 4 93 integral to membrane kidney(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 7 Colorectal(74;0.00187)|COAD - Colon adenocarcinoma(73;0.061)|READ - Rectum adenocarcinoma(644;0.0993) CAGGGACGGGTGGACAAACTT 0.587000 4 2 0 0 1 0 0 PHF12 57649 broad.mit.edu 37 17 27233293 27233293 + Missense_Mutation SNP C C T TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr17:27233293C>T ENST00000332830.4 - 15 3733 c.2923G>A c.(2923-2925)Gat>Aat p.D975N PHF12_ENST00000577226.1_3'UTR NM_001033561.1 NP_001028733.1 Q96QT6 PHF12_HUMAN PHD finger protein 12 975 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01) Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05) AGGCTGGCATCGCCTTTGGGC 0.597000 7 41 0 0 1 0 0 SHC4 399694 broad.mit.edu 37 15 49160017 49160017 + Missense_Mutation SNP C C T TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr15:49160017C>T ENST00000332408.4 - 6 1372 c.944G>A c.(943-945)cGa>cAa p.R315Q SHC4_ENST00000537958.1_Missense_Mutation_p.R29Q|SHC4_ENST00000396535.3_Missense_Mutation_p.R72Q NM_203349.3 NP_976224.3 Q6S5L8 SHC4_HUMAN SHC (Src homology 2 domain containing) family, member 4 315 PID. intracellular signal transduction cell junction|postsynaptic membrane breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1) 29 all_lung(180;0.00466) all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07) TTCCATACCTCGTTGATTAAC 0.333000 9 58 0 0 1 0 0 HIVEP2 3097 broad.mit.edu 37 6 143095507 143095507 + Silent SNP C C A TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr6:143095507C>A ENST00000367603.2 - 5 1111 c.369G>T c.(367-369)ccG>ccT p.P123P HIVEP2_ENST00000012134.2_Silent_p.P123P|HIVEP2_ENST00000367604.1_Silent_p.P123P NM_006734.3 NP_006725.3 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer binding protein 2 123 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 100 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) GGAAAAGCCACGGAGGACCTT 0.507000 29 88 2.61193e-14 2.97683e-14 1 1 0 MT-CO3 4514 broad.mit.edu 37 MT 9535 9535 + Missense_Mutation SNP C C T TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chrM:9535C>T ENST00000362079.2 + 1 329 c.329C>T c.(328-330)cCc>cTc p.110_110insL mitochondrially encoded cytochrome c oxidase III breast(1)|endometrium(10)|kidney(14)|lung(1)|urinary_tract(1) 27 AGCCCCTACCCCCCAACTAGG 0.493000 15 78 0 0 1 0 0 GLP2R 9340 broad.mit.edu 37 17 9774131 9774131 + Missense_Mutation SNP G G T TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr17:9774131G>T ENST00000262441.5 + 10 1637 c.1124G>T c.(1123-1125)tGc>tTc p.C375F GLP2R_ENST00000574745.1_Missense_Mutation_p.C195F NM_004246.1 NP_004237.1 O95838 GLP2R_HUMAN glucagon-like peptide 2 receptor 375 G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation integral to membrane|plasma membrane endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 44 Glucagon recombinant(DB00040) CATCAAATGTGCTTCAGAGAT 0.413000 45 164 3.05275e-18 3.55771e-18 1 1 0 ASCC3 10973 broad.mit.edu 37 6 101073102 101073102 + Missense_Mutation SNP T T C TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr6:101073102T>C ENST00000369162.2 - 30 5095 c.4751A>G c.(4750-4752)gAt>gGt p.D1584G NM_006828.2 NP_006819.2 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 3 1584 Helicase C-terminal 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 92 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) CTGCTTTGGATCTTCTTCAGT 0.378000 5 26 0 0 1 0 0 PRSS35 167681 broad.mit.edu 37 6 84233607 84233607 + Silent SNP G G A TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr6:84233607G>A ENST00000536636.1 + 3 792 c.447G>A c.(445-447)aaG>aaA p.K149K PRSS35_ENST00000369700.3_Silent_p.K149K NM_001170423.1 NP_001163894.1 Q8N3Z0 PRS35_HUMAN protease, serine, 35 149 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 32 all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0768) CAGCTGTGAAGCTTTCCACGG 0.463000 19 72 0 0 1 0 0 NLRP7 199713 broad.mit.edu 37 19 55450612 55450612 + Silent SNP G G A TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr19:55450612G>A ENST00000588756.1 - 6 2061 c.1575C>T c.(1573-1575)ctC>ctT p.L525L NLRP7_ENST00000592784.1_Silent_p.L525L|NLRP7_ENST00000590030.1_Silent_p.L525L|NLRP7_ENST00000340844.2_Silent_p.L525L|NLRP7_ENST00000328092.5_Silent_p.L525L|NLRP7_ENST00000448121.2_Silent_p.L525L|NLRP7_ENST00000446217.1_Silent_p.L553L Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 525 ATP binding p.L525L(1) autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) TCTCGTTAGCGAGGCCGAATA 0.527000 13 70 0 0 1 0 0 B3GNT3 10331 broad.mit.edu 37 19 17922559 17922559 + Nonsense_Mutation SNP G G A TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr19:17922559G>A ENST00000318683.6 + 3 894 c.747G>A c.(745-747)tgG>tgA p.W249* B3GNT3_ENST00000595387.1_Nonsense_Mutation_p.W249* NM_014256.3 NP_055071.2 Q9Y2A9 B3GN3_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 249 protein glycosylation Golgi membrane|integral to plasma membrane galactosyltransferase activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 21 GGGCTTTTTGGAGCAAGTACT 0.592000 4 62 0 0 1 0 0 MUC2 4583 broad.mit.edu 37 11 1096359 1096359 + Silent SNP C C A TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr11:1096359C>A ENST00000441003.2 + 34 6411 c.6384C>A c.(6382-6384)gtC>gtA p.V2128V MUC2_ENST00000361558.6_Silent_p.V266V NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 4490 inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) CGCACTATGTCACCTTCGACG 0.642000 11 38 1.58986e-06 1.73541e-06 1 1 0 SHROOM3 57619 broad.mit.edu 37 4 77691933 77691933 + Missense_Mutation SNP G G A TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr4:77691933G>A ENST00000296043.6 + 10 6457 c.5504G>A c.(5503-5505)aGg>aAg p.R1835K RP11-359D14.3_ENST00000449007.1_RNA NM_020859.3 NP_065910.3 Q8TF72 SHRM3_HUMAN shroom family member 3 1835 ASD2. apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 60 Lung(101;0.0903) GACAAGTATAGGATGTTCATA 0.552000 22 81 0 0 1 0 0 EPHA8 2046 broad.mit.edu 37 1 22915727 22915727 + Missense_Mutation SNP G G A TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr1:22915727G>A ENST00000374644.4 + 5 1415 c.1343G>A c.(1342-1344)cGt>cAt p.R448H EPHA8_ENST00000538803.1_Missense_Mutation_p.R448H|EPHA8_ENST00000166244.3_Intron NM_001006943.1 NP_001006944.1 P29322 EPHA8_HUMAN EPH receptor A8 0 Fibronectin type-III 2. integral to plasma membrane ATP binding|ephrin receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) GTCCCGCAGCGTCCTGGTCCC 0.672000 11 41 0 0 1 0 0 PCDH10 57575 broad.mit.edu 37 4 134073649 134073649 + Missense_Mutation SNP C C T TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr4:134073649C>T ENST00000264360.4 + 1 3180 c.2354C>T c.(2353-2355)tCa>tTa p.S785L NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 785 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) CTCAGCAAGTCAGACATCATG 0.627000 10 26 0 0 1 0 0 WDR44 54521 broad.mit.edu 37 X 117527030 117527030 + Nonsense_Mutation SNP G G T TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chrX:117527030G>T ENST00000254029.3 + 4 1017 c.622G>T c.(622-624)Gaa>Taa p.E208* WDR44_ENST00000371825.3_Nonsense_Mutation_p.E208*|WDR44_ENST00000493448.1_3'UTR|WDR44_ENST00000371822.5_Nonsense_Mutation_p.E183* NM_019045.4 NP_061918.3 Q5JSH3 WDR44_HUMAN WD repeat domain 44 208 cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 33 CGCTGTGGAAGAAGTGGCCCC 0.493000 4 64 0.00024832 0.000256597 1 1 0 VCAN 1462 broad.mit.edu 37 5 82835881 82835881 + Silent SNP G G A rs148008263 TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr5:82835881G>A ENST00000265077.3 + 8 7624 c.7059G>A c.(7057-7059)acG>acA p.T2353T VCAN_ENST00000342785.4_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Silent_p.T1366T|VCAN_ENST00000512590.2_Intron NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 2353 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) CTTTCTCCACGGACATCGGAC 0.448000 5 41 0 0 1 0 0 MT-CO3 4514 broad.mit.edu 37 MT 9548 9548 + Missense_Mutation SNP G G A TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chrM:9548G>A ENST00000362079.2 + 1 342 c.342G>A c.(340-342)ggG>ggA p.114_114insG mitochondrially encoded cytochrome c oxidase III breast(1)|endometrium(10)|kidney(14)|lung(1)|urinary_tract(1) 27 CAACTAGGAGGGCACTGGCCC 0.493000 7 74 0 0 1 0 0 TSPAN1 10103 broad.mit.edu 37 1 46650727 46650727 + Silent SNP C C T TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr1:46650727C>T ENST00000372003.1 + 7 998 c.534C>T c.(532-534)aaC>aaT p.N178N TSPAN1_ENST00000498443.1_3'UTR NM_005727.3 NP_005718.2 O60635 TSN1_HUMAN tetraspanin 1 178 integral to membrane|lysosomal membrane kidney(1)|large_intestine(1)|lung(5)|ovary(1) 8 Acute lymphoblastic leukemia(166;0.155) Medulloblastoma(700;0.00498)|all_neural(321;0.0212) GCAATGACAACGTCACCAACA 0.502000 17 82 0 0 1 0 0 PPFIA2 8499 broad.mit.edu 37 12 81778024 81778024 + Splice_Site SNP C C A TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr12:81778024C>A ENST00000550584.2 - 8 1058 c.e8-1 PPFIA2_ENST00000550359.2_Splice_Site|PPFIA2_ENST00000443686.3_Splice_Site|PPFIA2_ENST00000549325.1_Splice_Site|PPFIA2_ENST00000549396.1_Splice_Site|PPFIA2_ENST00000548586.1_Splice_Site|PPFIA2_ENST00000552948.1_Splice_Site|PPFIA2_ENST00000545296.2_Splice_Site|PPFIA2_ENST00000407050.4_Splice_Site|RP11-315E17.1_ENST00000546936.1_RNA|PPFIA2_ENST00000333447.7_Splice_Site NM_001220473.1 NP_001207402.1 B7Z663 B7Z663_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 TGGACAAACGCTGCAGAAATA 0.308000 4 17 0.00024832 0.000256597 1 1 0 RECQL 5965 broad.mit.edu 37 12 21624400 21624400 + Silent SNP C C T TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr12:21624400C>T ENST00000444129.2 - 13 2097 c.1629G>A c.(1627-1629)gaG>gaA p.E543E RECQL_ENST00000421138.2_Silent_p.E543E NM_002907.3|NM_032941.2 NP_002898.2|NP_116559.1 P46063 RECQ1_HUMAN RecQ protein-like (DNA helicase Q1-like) 543 DNA recombination|DNA repair|DNA replication nucleus ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 17 CAATAATCTTCTCCAGATCTT 0.378000 Other identified genes with known or suspected DNA repair function 13 49 0 0 1 0 0 FNIP2 57600 broad.mit.edu 37 4 159789958 159789958 + Missense_Mutation SNP T T G TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr4:159789958T>G ENST00000264433.6 + 13 2245 c.2170T>G c.(2170-2172)Ttt>Gtt p.F724V FNIP2_ENST00000379346.3_Missense_Mutation_p.F747V NM_020840.1 NP_065891.1 Q9P278 FNIP2_HUMAN folliculin interacting protein 2 724 Interaction with PRKAA1. DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation cytoplasm protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1) 9 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.00936) GATTGGAAGCTTTGCATCTCC 0.542000 22 59 0 0 1 0 0 KCNE2 9992 broad.mit.edu 37 21 35742922 35742922 + Missense_Mutation SNP G G A TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr21:35742922G>A ENST00000290310.2 + 2 285 c.145G>A c.(145-147)Gtc>Atc p.V49I NM_172201.1 NP_751951.1 Q9Y6J6 KCNE2_HUMAN potassium voltage-gated channel, Isk-related family, member 2 49 blood circulation|muscle contraction|regulation of heart contraction lysosome|voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(1)|large_intestine(1) 2 CTTCTACTATGTCATCCTGTA 0.458000 16 70 0 0 1 0 0 MUC6 4588 broad.mit.edu 37 11 1016922 1016922 + Missense_Mutation SNP C C G rs71472140 TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr11:1016922C>G ENST00000421673.2 - 31 5929 c.5879G>C c.(5878-5880)aGc>aCc p.S1960T NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 1960 Thr-rich. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GGGTAGCCTGCTGCTGCTGGC 0.582000 6 954 0 0 1 0 0 MGRN1 23295 broad.mit.edu 37 16 4723654 4723654 + Silent SNP G G A TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr16:4723654G>A ENST00000399577.5 + 10 1044 c.951G>A c.(949-951)cgG>cgA p.R317R MGRN1_ENST00000588015.1_3'UTR|MGRN1_ENST00000415496.1_Silent_p.R318R|MGRN1_ENST00000586183.1_Silent_p.R317R|MGRN1_ENST00000262370.7_Silent_p.R317R|MGRN1_ENST00000588994.1_Silent_p.R317R NM_001142290.2 NP_001135762.1 O60291 MGRN1_HUMAN mahogunin ring finger 1, E3 ubiquitin protein ligase 317 endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination cytosol|early endosome|nucleus|plasma membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 CCATCTGCCGGCTGCGTGAGT 0.652000 16 44 0 0 1 0 0 PILRB 29990 broad.mit.edu 37 7 99964984 99964984 + Missense_Mutation SNP C C T TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr7:99964984C>T ENST00000310771.4 + 18 3164 c.668C>T c.(667-669)cCa>cTa p.P223L PILRB_ENST00000452089.1_Missense_Mutation_p.P223L|PILRB_ENST00000444874.1_3'UTR|PILRB_ENST00000448382.1_3'UTR|PILRB_ENST00000444073.1_Missense_Mutation_p.P223L Q9UKJ0 PILRB_HUMAN paired immunoglobin-like type 2 receptor beta 223 activation of transmembrane receptor protein tyrosine kinase activity integral to plasma membrane protein binding|receptor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 13 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) agcagggcgccaagcagtgac 0.542000 14 58 0 0 1 0 0 MT-CO1 4512 broad.mit.edu 37 MT 6138 6138 + Missense_Mutation SNP G G A TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chrM:6138G>A ENST00000361624.2 + 1 235 c.235G>A c.(235-237)Ggc>Agc p.79_79insS mitochondrially encoded cytochrome c oxidase I breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3) 54 TCGGAGGCTTTGGCAACTGAC 0.458000 40 16 0 0 1 0 0 RBPMS 11030 broad.mit.edu 37 8 30402090 30402090 + Silent SNP G G A rs146741990 TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr8:30402090G>A ENST00000320203.4 + 6 1059 c.477G>A c.(475-477)gcG>gcA p.A159A RBPMS_ENST00000397323.4_Silent_p.A159A|RBPMS_ENST00000520161.1_Silent_p.A55A|RBPMS_ENST00000519647.1_Silent_p.A55A|RBPMS_ENST00000517860.1_Silent_p.A159A|RBPMS_ENST00000339877.4_Silent_p.A159A|RBPMS_ENST00000287771.5_Silent_p.A159A|RBPMS_ENST00000538486.1_Intron|RBPMS_ENST00000520191.1_Silent_p.A55A NM_006867.2 NP_006858.1 Q93062 RBPMS_HUMAN RNA binding protein with multiple splicing 159 positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent cytoplasm|nucleus nucleotide binding|poly(A) RNA binding|protein binding|transcription coactivator activity autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 13 KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172) CGGAGTTAGCGCCTGCTCTAC 0.557000 19 60 0 0 1 0 0 NODAL 4838 broad.mit.edu 37 10 72195488 72195488 + Missense_Mutation SNP C C T TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr10:72195488C>T ENST00000287139.3 - 2 444 c.445G>A c.(445-447)Ggc>Agc p.G149S AC022532.1_ENST00000420338.2_Silent_p.A145A NM_018055.4 NP_060525.3 Q96S42 NODAL_HUMAN nodal growth differentiation factor 149 growth extracellular space cytokine activity|growth factor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2) 15 ACCATGCTGCCCAAGGAAAAG 0.577000 6 47 0 0 1 0 0 UBQLNL 143630 broad.mit.edu 37 11 5537120 5537120 + Silent SNP A A T TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr11:5537120A>T ENST00000380184.1 - 1 815 c.552T>A c.(550-552)ctT>ctA p.L184L HBG2_ENST00000380259.2_Intron NM_145053.4 NP_659490.4 Q8IYU4 UBQLN_HUMAN ubiquilin-like 184 endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 33 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136) TGTTGGACAGAAGCCGCTGGA 0.488000 45 125 0 0 1 0 0 RBL1 5933 broad.mit.edu 37 20 35696405 35696405 + Nonsense_Mutation SNP G G A TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr20:35696405G>A ENST00000373664.3 - 3 541 c.475C>T c.(475-477)Cga>Tga p.R159* RBL1_ENST00000344359.3_Nonsense_Mutation_p.R159* NM_002895.2 NP_002886.2 P28749 RBL1_HUMAN retinoblastoma-like 1 (p107) 159 cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent transcription factor binding NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 42 Myeloproliferative disorder(115;0.00878) TTCCGGCTTCGTGGTAACTTT 0.299000 10 45 0 0 1 0 0 TAGAP 117289 broad.mit.edu 37 6 159464620 159464620 + Splice_Site SNP C C A TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr6:159464620C>A ENST00000367066.3 - 4 480 c.e4+1 RP1-111C20.4_ENST00000606470.1_RNA|TAGAP_ENST00000338313.5_Splice_Site|TAGAP_ENST00000326965.6_Splice_Site NM_054114.3 NP_473455.2 Q8N103 TAGAP_HUMAN T-cell activation RhoGTPase activating protein regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|guanyl-nucleotide exchange factor activity NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1) 23 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) TTAAAACTCACCAATGAGCTG 0.363000 41 125 9.58827e-17 1.10909e-16 1 1 0 CSPG4 1464 broad.mit.edu 37 15 75968110 75968110 + Missense_Mutation SNP G G C TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr15:75968110G>C ENST00000308508.5 - 10 6842 c.6750C>G c.(6748-6750)aaC>aaG p.N2250K NM_001897.4 NP_001888.2 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 2250 angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4) 48 TGCCCGTCTTGTTGCGTTTTC 0.607000 22 82 0 0 1 0 0 LOC220729 220729 broad.mit.edu 37 3 197348668 197348668 + RNA SNP C C G rs79940815 by1000genomes TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr3:197348668C>G ENST00000418868.1 - 0 591 NR_003266.2 ACTTGAGGCTCTGTCCACCAA 0.488000 5 86 0 0 1 0 0 SCNN1A 6337 broad.mit.edu 37 12 6483990 6483990 + Missense_Mutation SNP T T C TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr12:6483990T>C ENST00000360168.3 - 1 400 c.137A>G c.(136-138)gAg>gGg p.E46G SCNN1A_ENST00000538979.1_Intron|SCNN1A_ENST00000358945.3_5'UTR|SCNN1A_ENST00000228916.2_5'UTR|SCNN1A_ENST00000543768.1_Missense_Mutation_p.E10G NM_001159576.1 NP_001153048.1 P37088 SCNNA_HUMAN sodium channel, non-voltage-gated 1 alpha subunit 0 excretion|response to stimulus|sensory perception of taste apical plasma membrane WW domain binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 Amiloride(DB00594)|Triamterene(DB00384) GTCCTGCTCCTCCAGCTTGTT 0.627000 14 44 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 144991311 144991311 + Silent SNP C C T TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr8:144991311C>T ENST00000322810.4 - 32 13258 c.13089G>A c.(13087-13089)acG>acA p.T4363T PLEC_ENST00000527096.1_Silent_p.T4249T|PLEC_ENST00000356346.3_Silent_p.T4212T|PLEC_ENST00000398774.2_Silent_p.T4194T|PLEC_ENST00000354958.2_Silent_p.T4204T|PLEC_ENST00000436759.2_Silent_p.T4253T|PLEC_ENST00000357649.2_Silent_p.T4230T|PLEC_ENST00000345136.3_Silent_p.T4226T|PLEC_ENST00000354589.3_Silent_p.T4226T NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 4363 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 TGATGGAGAGCGTGCCGGCGC 0.652000 5 102 0 0 1 0 0 PSMD5 5711 broad.mit.edu 37 9 123595678 123595678 + Missense_Mutation SNP G G A TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr9:123595678G>A ENST00000210313.3 - 2 304 c.230C>T c.(229-231)cCg>cTg p.P77L PSMD5_ENST00000373904.5_Missense_Mutation_p.P77L|PSMD5-AS1_ENST00000589026.1_RNA NM_001270427.1|NM_005047.3 NP_001257356.1|NP_005038.1 Q16401 PSMD5_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 5 77 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction proteasome complex protein binding endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|prostate(1) 10 CACGTGAACCGGTTCCATAGC 0.453000 25 64 0 0 1 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5239807 5239807 + Missense_Mutation SNP G G A TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr5:5239807G>A ENST00000274181.7 + 16 2430 c.2292G>A c.(2290-2292)atG>atA p.M764I NM_139056.2 NP_620687.2 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 16 764 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 ATTATCACATGGTCACCATTC 0.458000 34 130 0 0 1 0 0 METTL16 79066 broad.mit.edu 37 17 2323740 2323740 + Missense_Mutation SNP C C T TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr17:2323740C>T ENST00000263092.5 - 10 1340 c.1213G>A c.(1213-1215)Gcc>Acc p.A405T METTL16_ENST00000571669.1_5'UTR|METTL16_ENST00000538844.1_Missense_Mutation_p.A187T NM_024086.3 NP_076991.3 Q86W50 MET16_HUMAN methyltransferase like 16 405 methyltransferase activity kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1) 19 TCTTCCAAGGCCTGAATGACG 0.557000 21 120 0 0 1 0 0 AP2A1 160 broad.mit.edu 37 19 50309133 50309133 + Missense_Mutation SNP C C G TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr19:50309133C>G ENST00000354293.5 + 21 2756 c.2590C>G c.(2590-2592)Caa>Gaa p.Q864E AP2A1_ENST00000359032.5_Missense_Mutation_p.Q886E NM_130787.2 NP_570603.2 O95782 AP2A1_HUMAN adaptor-related protein complex 2, alpha 1 subunit 886 axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol protein binding|protein transporter activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2) 19 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157) CCCCAGCCCTCAACAGGAGGC 0.652000 16 80 0 0 1 0 0 MDN1 23195 broad.mit.edu 37 6 90494817 90494817 + Nonsense_Mutation SNP G G A TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr6:90494817G>A ENST00000369393.3 - 9 1478 c.1363C>T c.(1363-1365)Cga>Tga p.R455* MDN1_ENST00000428876.1_Nonsense_Mutation_p.R455* Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 455 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) TTTAGCGGTCGATACCAATTT 0.388000 4 130 0 0 1 0 0 CEACAM5 1048 broad.mit.edu 37 19 42218891 42218891 + Splice_Site SNP G G T TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr19:42218891G>T ENST00000221992.6 + 3 540 c.424_splice c.e3-1 p.P142_splice CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Splice_Site_p.P142_splice|CEACAM5_ENST00000405816.1_Splice_Site_p.P142_splice NM_004363.2 NP_004354.2 P06731 CEAM5_HUMAN carcinoembryonic antigen-related cell adhesion molecule 5 142 Ig-like 1. anchored to membrane|basolateral plasma membrane|integral to plasma membrane breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 34 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) TCTGCACAGCGGAGCTGCCCA 0.552000 12 175 6.40141e-05 6.89041e-05 1 1 0 VPS45 11311 broad.mit.edu 37 1 150049207 150049207 + Silent SNP A A T TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr1:150049207A>T ENST00000369130.3 + 6 1020 c.474A>T c.(472-474)acA>acT p.T158T VPS45_ENST00000369128.5_Intron|VPS45_ENST00000535106.1_Intron NM_007259.3 NP_009190.2 Q9NRW7 VPS45_HUMAN vacuolar protein sorting 45 homolog (S. cerevisiae) 158 blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis endosome membrane|Golgi membrane|integral to membrane of membrane fraction breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 21 Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) TATCTAGAACAACTCAAGGGC 0.383000 12 58 0 0 1 0 0 LRRTM3 347731 broad.mit.edu 37 10 68686951 68686951 + Missense_Mutation SNP G G C TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr10:68686951G>C ENST00000361320.4 + 2 855 c.277G>C c.(277-279)Gac>Cac p.D93H CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000433211.1_Intron NM_178011.3 NP_821079.3 Q86VH5 LRRT3_HUMAN leucine rich repeat transmembrane neuronal 3 93 integral to membrane p.D93H(2) breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 41 GCTATACCTTGACCATAACCA 0.373000 28 97 0 0 1 0 0 COL14A1 7373 broad.mit.edu 37 8 121228647 121228647 + Missense_Mutation SNP G G A TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr8:121228647G>A ENST00000297848.3 + 14 1925 c.1655G>A c.(1654-1656)cGa>cAa p.R552Q COL14A1_ENST00000247781.3_Missense_Mutation_p.R457Q|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.R552Q NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 552 Fibronectin type-III 4. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) AACAGTGCTCGATTAACCTGG 0.378000 9 98 0 0 1 0 0 KCNC1 3746 broad.mit.edu 37 11 17793572 17793572 + Missense_Mutation SNP C C T TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr11:17793572C>T ENST00000379472.3 + 2 961 c.931C>T c.(931-933)Cgc>Tgc p.R311C KCNC1_ENST00000265969.6_Missense_Mutation_p.R311C NM_004976.4 NP_004967.1 P48547 KCNC1_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 1 311 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 33 GGGCTTCCTGCGCGTCGTCCG 0.632000 18 44 0 0 1 0 0 ACTL8 81569 broad.mit.edu 37 1 18152993 18152993 + Nonsense_Mutation SNP T T A TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr1:18152993T>A ENST00000375406.1 + 3 1296 c.1080T>A c.(1078-1080)taT>taA p.Y360* NM_030812.2 NP_110439.2 Q9H568 ACTL8_HUMAN actin-like 8 360 cytoplasm|cytoskeleton NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 28 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) GAGAGGAGTATGGTGAGCATA 0.517000 OREG0013157 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 35 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54860076 54860076 + Missense_Mutation SNP G G T TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr15:54860076G>T ENST00000545554.1 + 29 6037 c.6037G>T c.(6037-6039)Gct>Tct p.A2013S UNC13C_ENST00000260323.11_Missense_Mutation_p.A2013S|UNC13C_ENST00000537900.1_Missense_Mutation_p.A2011S Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 2013 MHD2. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) TCTGAGATATGCTCTCAGTCT 0.368000 6 10 8.12818e-05 8.62924e-05 1 1 0 NEK5 341676 broad.mit.edu 37 13 52684488 52684488 + Missense_Mutation SNP C C G TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr13:52684488C>G ENST00000355568.4 - 7 594 c.455G>C c.(454-456)aGa>aCa p.R152T NM_199289.1 NP_954983.1 Q6P3R8 NEK5_HUMAN NIMA-related kinase 5 152 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 39 Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;3.7e-08) ATTCAGGACTCTTGCTATACC 0.308000 6 46 0 0 1 0 0 ZNF639 51193 broad.mit.edu 37 3 179052196 179052196 + Missense_Mutation SNP C C T TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr3:179052196C>T ENST00000326361.3 + 7 1889 c.1444C>T c.(1444-1446)Cat>Tat p.H482Y ZNF639_ENST00000484866.1_Missense_Mutation_p.H482Y|ZNF639_ENST00000496856.1_Missense_Mutation_p.H482Y NM_016331.1 NP_057415.1 Q9UID6 ZN639_HUMAN zinc finger protein 639 482 initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent nucleus protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1) 16 all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923) CCTTCCAGTCCATGAGACAAC 0.323000 10 55 0 0 1 0 0 ACAA2 10449 broad.mit.edu 37 18 47323932 47323932 + Missense_Mutation SNP A A T TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr18:47323932A>T ENST00000285093.10 - 3 691 c.216T>A c.(214-216)caT>caA p.H72Q RP11-886H22.1_ENST00000590532.2_3'UTR|ACAA2_ENST00000589432.1_Missense_Mutation_p.H17Q|ACAA2_ENST00000587994.1_Missense_Mutation_p.H69Q NM_006111.2 NP_006102.2 P42765 THIM_HUMAN acetyl-CoA acyltransferase 2 72 anti-apoptosis|cholesterol biosynthetic process acetyl-CoA C-acyltransferase activity|protein binding large_intestine(2)|lung(7)|ovary(1) 10 GCAAACCAACATGCCTTGCCA 0.388000 15 42 0 0 1 0 0 UACA 55075 broad.mit.edu 37 15 70959891 70959891 + Missense_Mutation SNP C C G TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr15:70959891C>G ENST00000322954.6 - 16 3317 c.3132G>C c.(3130-3132)ttG>ttC p.L1044F UACA_ENST00000560441.1_Missense_Mutation_p.L1029F|UACA_ENST00000539319.1_Missense_Mutation_p.L935F|UACA_ENST00000379983.2_Missense_Mutation_p.L1031F NM_018003.2 NP_060473.2 Q9BZF9 UACA_HUMAN uveal autoantigen with coiled-coil domains and ankyrin repeats 1044 cytoskeleton|extracellular region breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2) 50 TCTTATCTCTCAAATCTTTCT 0.353000 29 70 0 0 1 0 0 KIAA1257 57501 broad.mit.edu 37 3 128707593 128707593 + Missense_Mutation SNP A A G TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr3:128707593A>G ENST00000265068.5 - 3 598 c.431T>C c.(430-432)gTa>gCa p.V144A KIAA1257_ENST00000510149.1_5'UTR|KIAA1257_ENST00000515659.1_Missense_Mutation_p.V32A|KIAA1257_ENST00000511438.1_Missense_Mutation_p.V144A NM_020741.2 NP_065792.1 Q9ULG3 K1257_HUMAN KIAA1257 144 breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2) 14 CTCCAGGAATACTTTGGCCAC 0.443000 7 44 0 0 1 0 0 PCDHB13 56123 broad.mit.edu 37 5 140595705 140595705 + Silent SNP C C T TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr5:140595705C>T ENST00000341948.4 + 1 2197 c.2010C>T c.(2008-2010)taC>taT p.Y670Y NM_018933.2 NP_061756.1 Q9Y5F0 PCDBD_HUMAN 670 Cadherin 6. 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) CCCAGCCCTACCTGCCTCTCC 0.677000 40 68 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216260136 216260136 + Missense_Mutation SNP T T C TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr1:216260136T>C ENST00000366943.2 - 24 5298 c.4912A>G c.(4912-4914)Act>Gct p.T1638A RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.T1638A|RP11-22M7.2_ENST00000446411.1_RNA O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 1638 Laminin G-like 1. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CCAATAACAGTACTACCATTC 0.418000 HNSCC(13;0.011) 22 43 0 0 1 0 0 NRAP 4892 broad.mit.edu 37 10 115365936 115365936 + Splice_Site SNP C C T TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr10:115365936C>T ENST00000369358.4 - 33 4076 c.e33+1 NRAP_ENST00000360478.3_Splice_Site|NRAP_ENST00000359988.3_Splice_Site|NRAP_ENST00000369360.3_Splice_Site Q86VF7 NRAP_HUMAN nebulin-related anchoring protein 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) AAAGGGCTTACGTCACTCAGG 0.473000 5 64 0 0 1 0 0 UBR4 23352 broad.mit.edu 37 1 19421412 19421412 + Silent SNP C C T TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr1:19421412C>T ENST00000375267.2 - 94 13737 c.13734G>A c.(13732-13734)ctG>ctA p.L4578L UBR4_ENST00000375226.2_Silent_p.L4554L|UBR4_ENST00000375254.3_Silent_p.L4578L|UBR4_ENST00000375217.2_Silent_p.L4571L|UBR4_ENST00000543981.1_Silent_p.L242L|UBR4_ENST00000467272.2_5'UTR|UBR4_ENST00000429347.2_Intron|UBR4_ENST00000375224.1_Silent_p.L285L Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 4578 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) TGTCCTCACTCAGGGGCTCAG 0.557000 4 62 0 0 1 0 0 FAM167A 83648 broad.mit.edu 37 8 11301803 11301803 + Missense_Mutation SNP C C G TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr8:11301803C>G ENST00000284486.4 - 2 656 c.118G>C c.(118-120)Gag>Cag p.E40Q FAM167A_ENST00000528897.1_Missense_Mutation_p.E40Q|FAM167A_ENST00000534308.1_Missense_Mutation_p.E40Q NM_053279.2 NP_444509.2 Q96KS9 F167A_HUMAN family with sequence similarity 167, member A 40 breast(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1) 9 CTGCGGGTCTCCAGCCTCAGT 0.677000 21 59 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124268630 124268630 + Missense_Mutation SNP C C A TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr12:124268630C>A ENST00000409039.3 + 8 978 c.953C>A c.(952-954)gCt>gAt p.A318D NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 318 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) ATGCTTGTGGCTAATCTGCAG 0.468000 15 66 0.000219431 0.00022981 1 1 0 PTPN6 5777 broad.mit.edu 37 12 7064379 7064379 + Missense_Mutation SNP C C G TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr12:7064379C>G ENST00000456013.1 + 5 824 c.582C>G c.(580-582)ttC>ttG p.F194L PTPN6_ENST00000399448.1_Missense_Mutation_p.F196L|PTPN6_ENST00000447931.2_Missense_Mutation_p.F155L|PTPN6_ENST00000318974.9_Missense_Mutation_p.F194L NM_080549.3 NP_536859.1 P29350 PTN6_HUMAN protein tyrosine phosphatase, non-receptor type 6 194 SH2 2. apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway cytosol|membrane|nucleus protein binding|protein tyrosine phosphatase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3) 18 TGGAGCATTTCAAGAAGACGG 0.617000 30 114 0 0 1 0 0 ABCG4 64137 broad.mit.edu 37 11 119029033 119029033 + Silent SNP C C T TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr11:119029033C>T ENST00000307417.3 + 10 1522 c.1158C>T c.(1156-1158)ctC>ctT p.L386L ABCG4_ENST00000531739.1_Silent_p.L386L|ABCG4_ENST00000449422.2_Silent_p.L386L NM_022169.4 NP_071452.2 Q9H172 ABCG4_HUMAN ATP-binding cassette, sub-family G (WHITE), member 4 386 ABC transmembrane type-2. cholesterol efflux integral to membrane ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity p.L386L(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1) 44 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) TGTCCATCCTCAGGGACACGG 0.582000 72 160 0 0 1 0 0 PDE11A 50940 broad.mit.edu 37 2 178565870 178565870 + Silent SNP G G C rs149627351 byFrequency TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr2:178565870G>C ENST00000286063.5 - 14 2540 c.2223C>G c.(2221-2223)gcC>gcG p.A741A PDE11A_ENST00000409504.1_Silent_p.A383A|PDE11A_ENST00000358450.4_Silent_p.A491A|PDE11A_ENST00000389683.3_Silent_p.A297A|PDE11A_ENST00000449286.2_Silent_p.A383A|AC012499.1_ENST00000412133.1_RNA|AC012499.1_ENST00000450227.1_RNA|PDE11A_ENST00000497003.1_5'UTR NM_016953.3 NP_058649.3 Q9HCR9 PDE11_HUMAN phosphodiesterase 11A 741 Catalytic (By similarity). platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02) GGATCATCACGGCGTGGTTGA 0.512000 Primary Pigmented Nodular Adrenocortical Disease, Familial 9 11 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144941937 144941937 + Missense_Mutation SNP C C T TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr8:144941937C>T ENST00000525985.1 - 2 5556 c.5485G>A c.(5485-5487)Gaa>Aaa p.E1829K P58107 EPIPL_HUMAN epiplakin 1 1829 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GTGATGATTTCCAGCAATTTC 0.537000 11 228 0 0 1 0 0 GIT1 28964 broad.mit.edu 37 17 27904726 27904726 + Silent SNP C C A TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr17:27904726C>A ENST00000225394.3 - 10 1166 c.918G>T c.(916-918)gtG>gtT p.V306V GIT1_ENST00000581348.1_Silent_p.V315V|GIT1_ENST00000394869.3_Silent_p.V315V|GIT1_ENST00000579937.1_Silent_p.V306V|RP11-68I3.2_ENST00000581474.1_RNA NM_014030.3 NP_054749.2 Q9Y2X7 GIT1_HUMAN G protein-coupled receptor kinase interacting ArfGAP 1 306 ARHGEF6-binding (By similarity).|PTK2-binding (By similarity). regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|focal adhesion ARF GTPase activator activity|protein binding|zinc ion binding large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069) TGCGCTCTGTCACCAGAGTGC 0.642000 26 91 1.30897e-18 1.53705e-18 1 1 0 MUC6 4588 broad.mit.edu 37 11 1017429 1017429 + Missense_Mutation SNP C C G TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr11:1017429C>G ENST00000421673.2 - 31 5422 c.5372G>C c.(5371-5373)aGc>aCc p.S1791T NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 1791 Approximate repeats.|Thr-rich. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GGGTAGCCTGCTGCTGGTGGC 0.592000 7 952 0 0 1 0 0 LOC100294341 100294341 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 3 38 0 0 1 0 0 LINC00971 440970 broad.mit.edu 37 3 84740860 84740861 + RNA INS - - AT TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr3:84740860_84740861insAT ENST00000484892.1 - 0 2354 NR_033860.1 GGTGACCTACAATAGGCAGCAC 0.446 8 22 --- --- --- --- RRP36 88745 broad.mit.edu 37 6 42989414 42989419 + In_Frame_Del DEL GCCGGG GCCGGG - rs60664426 TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr6:42989414_42989419delGCCGGG ENST00000244496.5 + 1 32_37 c.22_27delGCCGGG c.(22-27)del p.AG14del NM_033112.2 NP_149103.1 Q96EU6 RRP36_HUMAN ribosomal RNA processing 36 homolog (S. cerevisiae) 14 ribosomal small subunit biogenesis|rRNA processing nucleolus p.A8_G9delAG(2) NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1) 11 TAACTAccgcgccggggccggggccg 0.777 3 6 --- --- --- --- CUX1 1523 broad.mit.edu 37 7 101892133 101892135 + In_Frame_Del DEL CAG CAG - TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr7:101892133_101892135delCAG ENST00000360264.3 + 24 4382_4384 c.4362_4364delCAG c.(4360-4365)aac>aa p.NS1454del CUX1_ENST00000393824.3_Intron|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000292535.7_In_Frame_Del_p.NS1443del|CUX1_ENST00000556210.1_In_Frame_Del_p.NS1285del|CUX1_ENST00000550008.2_In_Frame_Del_p.NS1387del|CUX1_ENST00000549414.2_In_Frame_Del_p.NS1421del|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000546411.2_In_Frame_Del_p.NS1341del NM_001202543.1 NP_001189472.1 P39880 CUX1_HUMAN cut-like homeobox 1 1443 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 CGCCCAGCAACAGCAGCAGCAGC 0.823 2 4 --- --- --- --- SMARCA2 6595 broad.mit.edu 37 9 2123926 2123926 + Frame_Shift_Del DEL C C - TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr9:2123926delC ENST00000382203.1 + 27 4179 c.3970delC c.(3970-3972)agfs p.Q1324fs SMARCA2_ENST00000349721.2_Frame_Shift_Del_p.Q1324fs|SMARCA2_ENST00000382194.1_Frame_Shift_Del_p.Q1324fs|SMARCA2_ENST00000357248.2_Frame_Shift_Del_p.Q1324fs P51531 SMCA2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 1324 chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) CACGGAGAAGCAGTGGCTAAG 0.547 2 4 --- --- --- --- LINC01410 103352539 broad.mit.edu 37 9 66464331 66464332 + RNA INS - - A rs142894132 TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr9:66464331_66464332insA ENST00000424345.1 + 0 224 GCACAATAGACAAAATATTCTC 0.332 5 2 --- --- --- --- KMT2D 8085 broad.mit.edu 37 12 49420547 49420565 + Frame_Shift_Del DEL CCGTGGACCAAAGGGCACA CCGTGGACCAAAGGGCACA - TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr12:49420547_49420565delCCGTGGACCAAAGGGCACA ENST00000301067.7 - 48 15183_15201 c.15184_15202delTGTGCCCTTTGGTCCACGG c.(15184-15204)agfs p.CALWSTE5062fs NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D TCATACACCTCCGTGGACCAAAGGGCACAGTTGAGGTGC 0.621 9 49 --- --- --- --- UBE2Q2P2 100134869 broad.mit.edu 37 15 83081482 83081483 + RNA INS - - G TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr15:83081482_83081483insG ENST00000558477.1 + 0 510 NR_004847.2 AAATGttttttttttttttttt 0.327 2 4 --- --- --- --- THAP11 57215 broad.mit.edu 37 16 67876538 67876538 + Frame_Shift_Del DEL A A - TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr16:67876538delA ENST00000303596.1 + 1 326 c.81delA c.(79-81)ccfs p.P27fs CENPT_ENST00000562787.1_Intron NM_020457.2 NP_065190.2 Q96EK4 THA11_HUMAN THAP domain containing 11 27 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|identical protein binding|metal ion binding cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1) 8 Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118) ACACGTTTCCAAAGGACGCTG 0.652 2 4 --- --- --- --- GHDC 84514 broad.mit.edu 37 17 40345560 40345562 + In_Frame_Del DEL GCA GCA - TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr17:40345560_40345562delGCA ENST00000301671.8 - 2 479_481 c.38_40delTGC c.(37-42)cca>c p.LP13del GHDC_ENST00000436923.2_In_Frame_Del_p.LP13del|GHDC_ENST00000428494.2_In_Frame_Del_p.LP13del|GHDC_ENST00000587427.1_In_Frame_Del_p.LP13del|GHDC_ENST00000414034.3_In_Frame_Del_p.LP13del|GHDC_ENST00000590520.1_5'UTR|GHDC_ENST00000593209.1_In_Frame_Del_p.LP13del Q8N2G8 GHDC_HUMAN GH3 domain containing 13 endoplasmic reticulum|nuclear envelope central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304) BRCA - Breast invasive adenocarcinoma(366;0.124) GCCAATGTTGgcagcagcagcag 0.631 2 4 --- --- --- --- NFE2L1 4779 broad.mit.edu 37 17 46136269 46136276 + Frame_Shift_Del DEL GACTCTGA GACTCTGA - TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr17:46136269_46136276delGACTCTGA ENST00000362042.3 + 6 2201_2208 c.1585_1592delGACTCTGA c.(1585-1593)gfs p.DSE529fs NFE2L1_ENST00000582155.1_Frame_Shift_Del_p.DSE341fs|NFE2L1_ENST00000536222.1_Frame_Shift_Del_p.DSE373fs|NFE2L1_ENST00000585291.1_Frame_Shift_Del_p.DSE499fs|NFE2L1_ENST00000583378.1_Frame_Shift_Del_p.DSE330fs|NFE2L1_ENST00000361665.3_Frame_Shift_Del_p.DSE518fs|NFE2L1_ENST00000357480.5_Frame_Shift_Del_p.DSE499fs NM_003204.2 NP_003195.1 Q14494 NF2L1_HUMAN nuclear factor, erythroid 2-like 1 529 anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 CTACAGCTCTGACTCTGAGACCCTGGAT 0.553 7 49 --- --- --- --- CTD-2245F17.3 0 broad.mit.edu 37 19 53703995 53703995 + RNA DEL T T - rs113703393 TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr19:53703995delT ENST00000597550.1 + 0 232 TGTTTCCCCCttttttttttt 0.473 5 1 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11061392 11061394 + RNA DEL AAG AAG - rs60312601 by1000genomes TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a72d565e-2838-42f8-a155-14ff51a727d7 adb6404c-5964-4af7-a7c7-3c0404e4281c g.chr21:11061392_11061394delAAG ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) AGAACACAATAAGAACAACAAAA 0.251 2 4 --- --- --- ---