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 EHBP1L1 254102 broad.mit.edu 37 11 65349567 65349567 + Missense_Mutation SNP C C T TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr11:65349567C>T ENST00000309295.4 + 9 1689 c.1424C>T c.(1423-1425)cCc>cTc p.P475L NM_001099409.1 NP_001092879.1 Q8N3D4 EH1L1_HUMAN EH domain binding protein 1-like 1 475 central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 GATGAGGCTCCCTCAGGCCTG 0.687000 15 15 0 0 0.000308642 0 0 SPHKAP 80309 broad.mit.edu 37 2 228882591 228882591 + Silent SNP C C T TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr2:228882591C>T ENST00000392056.3 - 7 3025 c.2979G>A c.(2977-2979)agG>agA p.R993R SPHKAP_ENST00000344657.5_Silent_p.R993R NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 993 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) GCTTGTGTTTCCTCACAGCGG 0.537000 24 46 0 0 0.000720815 0 0 KCNJ6 3763 broad.mit.edu 37 21 39212975 39212975 + Silent SNP G G A TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr21:39212975G>A ENST00000400482.3 - 2 599 c.10C>T c.(10-12)Ctg>Ttg p.L4L KCNJ6_ENST00000288309.6_Silent_p.L4L NM_002240.3 NP_002231.1 P48051 IRK6_HUMAN potassium inwardly-rectifying channel, subfamily J, member 6 4 synaptic transmission Golgi apparatus|voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 22 Halothane(DB01159) GATTCTGTCAGCTTGGCCATT 0.338000 192 326 0 0 0.000781405 0 0 KIAA2022 340533 broad.mit.edu 37 X 73963454 73963454 + Missense_Mutation SNP C C T TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chrX:73963454C>T ENST00000373468.1 - 3 1589 c.938G>A c.(937-939)cGa>cAa p.R313Q KIAA2022_ENST00000055682.5_Missense_Mutation_p.R313Q Q5QGS0 K2022_HUMAN KIAA2022 313 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 GGATTCATATCGAATTTTCAG 0.423000 34 131 0 0 0.00111076 0 0 KDM5A 5927 broad.mit.edu 37 12 402016 402016 + Missense_Mutation SNP G G A TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr12:402016G>A ENST00000399788.2 - 27 5137 c.4775C>T c.(4774-4776)cCc>cTc p.P1592L KDM5A_ENST00000540838.1_5'UTR|KDM5A_ENST00000382815.4_Missense_Mutation_p.P1592L NM_001042603.1 NP_001036068.1 P29375 KDM5A_HUMAN lysine (K)-specific demethylase 5A 1592 chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2) 77 ATACTTTGAGGGGATGTCCAG 0.483000 T NUP98 AML 41 87 0 0 0.00170553 0 0 PRKAG3 53632 broad.mit.edu 37 2 219694899 219694899 + Nonsense_Mutation SNP C C T TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr2:219694899C>T ENST00000439262.2 - 4 455 c.360G>A c.(358-360)tgG>tgA p.W120* PRKAG3_ENST00000392098.3_Nonsense_Mutation_p.W145*|PRKAG3_ENST00000545803.1_5'UTR|PRKAG3_ENST00000529249.1_Nonsense_Mutation_p.W145* NM_017431.2 NP_059127.2 Q9UGI9 AAKG3_HUMAN protein kinase, AMP-activated, gamma 3 non-catalytic subunit 145 cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation cytosol AMP-activated protein kinase activity|protein kinase binding large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 20 Renal(207;0.0474) Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GCTCACACTCCCAGGCCTCTG 0.637000 14 21 0 0 0.00185496 0 0 RABGAP1L 9910 broad.mit.edu 37 1 174200433 174200433 + Missense_Mutation SNP C C T TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr1:174200433C>T ENST00000251507.4 + 4 656 c.482C>T c.(481-483)tCc>tTc p.S161F RABGAP1L_ENST00000367689.3_5'UTR|RABGAP1L_ENST00000357444.6_Missense_Mutation_p.S124F NM_014857.4 NP_055672.3 Q5R372 RBG1L_HUMAN RAB GTPase activating protein 1-like 161 PID. regulation of protein localization early endosome|Golgi apparatus|nucleus Rab GTPase activator activity NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2) 45 ATGAAATCTTCCAGTCAATAC 0.383000 109 38 0 0 0.000781405 0 0 KDM5A 5927 broad.mit.edu 37 12 402015 402015 + Silent SNP G G A TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr12:402015G>A ENST00000399788.2 - 27 5138 c.4776C>T c.(4774-4776)ccC>ccT p.P1592P KDM5A_ENST00000540838.1_5'UTR|KDM5A_ENST00000382815.4_Silent_p.P1592P NM_001042603.1 NP_001036068.1 P29375 KDM5A_HUMAN lysine (K)-specific demethylase 5A 1592 chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2) 77 CATACTTTGAGGGGATGTCCA 0.478000 T NUP98 AML 39 86 0 0 0.00128727 0 0 MYOF 26509 broad.mit.edu 37 10 95161231 95161231 + Missense_Mutation SNP G G A TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr10:95161231G>A ENST00000371501.4 - 12 1183 c.1061C>T c.(1060-1062)gCc>gTc p.A354V MYOF_ENST00000359263.4_Missense_Mutation_p.A354V|MYOF_ENST00000358334.5_Missense_Mutation_p.A354V|MYOF_ENST00000371502.4_Missense_Mutation_p.A354V|MYOF_ENST00000371489.1_Missense_Mutation_p.A354V Q9NZM1 MYOF_HUMAN myoferlin 354 C2 3. blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 CCACCGGAGGGCAATGCCAGC 0.443000 29 15 0 0 0.00106085 0 0 CR2 1380 broad.mit.edu 37 1 207644140 207644140 + Silent SNP C C T TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr1:207644140C>T ENST00000367057.3 + 7 1470 c.1281C>T c.(1279-1281)gtC>gtT p.V427V CR2_ENST00000458541.2_Silent_p.V427V|CR2_ENST00000367059.3_Silent_p.V427V|CR2_ENST00000367058.3_Silent_p.V427V NM_001006658.2 NP_001006659.1 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) receptor 2 427 Sushi 7. complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1) 69 GACACATGGTCCGCTTTGACC 0.443000 51 13 0 0 0.000781405 0 0 EPB41L2 2037 broad.mit.edu 37 6 131201339 131201339 + Missense_Mutation SNP G G A TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr6:131201339G>A ENST00000337057.3 - 13 2022 c.1841C>T c.(1840-1842)tCc>tTc p.S614F EPB41L2_ENST00000529208.1_Intron|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000527659.1_Intron|EPB41L2_ENST00000368128.2_Missense_Mutation_p.S614F|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000524581.1_Intron|EPB41L2_ENST00000530481.1_Intron|EPB41L2_ENST00000531410.1_Missense_Mutation_p.S13F|EPB41L2_ENST00000530757.1_Missense_Mutation_p.S13F|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000527411.1_Intron|EPB41L2_ENST00000525193.1_Intron NM_001431.3 NP_001422.1 O43491 E41L2_HUMAN erythrocyte membrane protein band 4.1-like 2 614 Spectrin--actin-binding. cortical actin cytoskeleton organization extrinsic to membrane|plasma membrane|spectrin actin binding|structural molecule activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2) 44 Breast(56;0.0639) OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355) TACTCTCAAGGAATTTTTCTG 0.383000 5 17 0 0 0.000602214 0 0 FAM47B 170062 broad.mit.edu 37 X 34962607 34962607 + Silent SNP C C T TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chrX:34962607C>T ENST00000329357.5 + 1 1695 c.1659C>T c.(1657-1659)ttC>ttT p.F553F NM_152631.2 NP_689844.2 Q8NA70 FA47B_HUMAN family with sequence similarity 47, member B 553 breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 CATGGTACTTCGAGCCTAAGT 0.488000 53 35 0 0 0.000781405 0 0 RP3-368A4.5 0 broad.mit.edu 37 X 73423472 73423472 + RNA SNP C C T TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chrX:73423472C>T ENST00000603037.1 - 0 488 TGAACGAAGTCCTTTCCCACT 0.443000 19 31 0 0 0.00074312 0 0 HRASLS 57110 broad.mit.edu 37 3 192980846 192980846 + Missense_Mutation SNP G G A TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr3:192980846G>A ENST00000264735.2 + 3 636 c.542G>A c.(541-543)gGa>gAa p.G181E HRASLS_ENST00000602513.1_Missense_Mutation_p.G76E NM_020386.4 NP_065119.2 Q9HDD0 HRSL1_HUMAN HRAS-like suppressor 76 breast(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2) 10 all_cancers(143;9.1e-09)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000159) GATGTTGTGGGAAATGACACA 0.433000 56 33 0 0 0.000781405 0 0 IRGC 56269 broad.mit.edu 37 19 44223374 44223374 + Missense_Mutation SNP C C T TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr19:44223374C>T ENST00000244314.5 + 2 863 c.664C>T c.(664-666)Cgc>Tgc p.R222C NM_019612.3 NP_062558.1 Q6NXR0 IIGP5_HUMAN immunity-related GTPase family, cinema 222 membrane GTP binding|hydrolase activity, acting on acid anhydrides central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2) 25 Prostate(69;0.0435) CTCGCCGGCCCGCTACGACTT 0.701000 13 15 0 0 0.00185496 0 0 STIL 6491 broad.mit.edu 37 1 47746773 47746773 + Missense_Mutation SNP G G A TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr1:47746773G>A ENST00000360380.3 - 13 1720 c.1357C>T c.(1357-1359)Cct>Tct p.P453S STIL_ENST00000337817.5_Missense_Mutation_p.P453S|STIL_ENST00000371877.3_Missense_Mutation_p.P453S|STIL_ENST00000396221.2_Missense_Mutation_p.P453S|STIL_ENST00000243182.6_Missense_Mutation_p.P453S Q15468 STIL_HUMAN SCL/TAL1 interrupting locus 453 cell proliferation|multicellular organismal development centrosome|cytosol central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 36 Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444) ATCAAAGGAGGATTTTCATTA 0.428000 49 68 0 0 0.000781405 0 0 STAT4 6775 broad.mit.edu 37 2 191903927 191903927 + Missense_Mutation SNP G G T TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr2:191903927G>T ENST00000392320.2 - 16 1746 c.1432C>A c.(1432-1434)Cag>Aag p.Q478K STAT4_ENST00000358470.4_Missense_Mutation_p.Q478K|STAT4_ENST00000470708.1_5'UTR NM_003151.3 NP_003142.1 Q14765 STAT4_HUMAN signal transducer and activator of transcription 4 478 JAK-STAT cascade cytoplasm|nucleus calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204) GAGTCTACCTGGGAATCGTTG 0.433000 7 79 0.000157383 0.00309253 0.000157383 1 0 TAS2R39 259285 broad.mit.edu 37 7 142881273 142881273 + Missense_Mutation SNP G G A TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr7:142881273G>A ENST00000446620.1 + 1 762 c.762G>A c.(760-762)atG>atA p.M254I NM_176881.2 NP_795362.2 P59534 T2R39_HUMAN taste receptor, type 2, member 39 254 sensory perception of taste integral to membrane G-protein coupled receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 Melanoma(164;0.059) ACCCCAGCATGGAGGCTCACA 0.488000 31 113 0 0 0.00111076 0 0 AIFM3 150209 broad.mit.edu 37 22 21331325 21331325 + Missense_Mutation SNP A A T TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr22:21331325A>T ENST00000399167.2 + 14 1463 c.1223A>T c.(1222-1224)aAg>aTg p.K408M AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000399163.2_Missense_Mutation_p.K408M|AIFM3_ENST00000440238.2_Missense_Mutation_p.K408M|AIFM3_ENST00000405089.1_Missense_Mutation_p.K414M|AIFM3_ENST00000335375.5_Missense_Mutation_p.K396M|AIFM3_ENST00000333607.6_Missense_Mutation_p.K408M NM_144704.2 NP_653305.1 apoptosis-inducing factor, mitochondrion-associated, 3 breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 21 all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0367) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) CCACAGCTGAAGGAGGTTGTG 0.617000 22 27 0 0 0.00047179 0 0 DNM2 1785 broad.mit.edu 37 19 10940994 10940994 + Missense_Mutation SNP C C T TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr19:10940994C>T ENST00000314646.5 + 20 2647 c.2483C>T c.(2482-2484)cCg>cTg p.P828L DNM2_ENST00000408974.4_Missense_Mutation_p.P824L|DNM2_ENST00000389253.4_Missense_Mutation_p.P828L|DNM2_ENST00000359692.6_Missense_Mutation_p.P824L|DNM2_ENST00000355667.6_Missense_Mutation_p.P828L|DNM2_ENST00000585892.1_Missense_Mutation_p.P828L P50570 DYN2_HUMAN dynamin 2 828 Pro-rich. G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane GTP binding|GTPase activity|microtubule binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 42 Epithelial(33;4.17e-05)|all cancers(31;8.48e-05) TTCCCAGCCCCGCCTCAGATC 0.677000 """F, N, Splice, Mis, O""" ETP ALL 30 27 0 0 0.00178596 0 0 CFC1 55997 broad.mit.edu 37 2 131356273 131356273 + Silent SNP C C T TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr2:131356273C>T ENST00000259216.4 - 3 451 c.189G>A c.(187-189)ggG>ggA p.G63G NM_032545.3 NP_115934.1 P0CG37 CFC1_HUMAN cripto, FRL-1, cryptic family 1 63 determination of left/right symmetry|gastrulation anchored to membrane|extracellular region|plasma membrane endometrium(1)|lung(4) 5 Colorectal(110;0.1) CCTCGGCGCTCCCAGTCACCT 0.617000 13 55 0 0 0.00074312 0 0 DCC 1630 broad.mit.edu 37 18 51025778 51025778 + Nonsense_Mutation SNP C C T TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr18:51025778C>T ENST00000442544.2 + 27 4625 c.4009C>T c.(4009-4011)Cga>Tga p.R1337* RP11-671P2.1_ENST00000582064.1_RNA|DCC_ENST00000581580.1_Nonsense_Mutation_p.R970* NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 1337 apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) AGCTTGTGTTCGACCAACTCA 0.532000 30 56 0 0 0.00209593 0 0 LMAN2 10960 broad.mit.edu 37 5 176759165 176759165 + Silent SNP G G A TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr5:176759165G>A ENST00000303127.7 - 8 1197 c.993C>T c.(991-993)ctC>ctT p.L331L LMAN2_ENST00000515209.1_3'UTR NM_006816.2 NP_006807.1 Q12907 LMAN2_HUMAN lectin, mannose-binding 2 331 protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane metal ion binding|sugar binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1) 16 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CGATGCCCAGGAGAGCGCACA 0.687000 16 16 0 0 0.000958276 0 0 TIAM2 26230 broad.mit.edu 37 6 155469378 155469378 + Silent SNP G G A TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr6:155469378G>A ENST00000461783.3 + 9 3211 c.1938G>A c.(1936-1938)aaG>aaA p.K646K TIAM2_ENST00000360366.4_Silent_p.K646K|TIAM2_ENST00000529824.2_Silent_p.K646K|TIAM2_ENST00000456144.1_Silent_p.K646K|TIAM2_ENST00000318981.5_Silent_p.K646K|TIAM2_ENST00000367174.2_5'UTR Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 646 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity p.K646N(1) breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 65 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) TGCTTCAGAAGATAGACATGG 0.502000 19 25 0 0 0.00121646 0 0 CCDC129 223075 broad.mit.edu 37 7 31682949 31682949 + Missense_Mutation SNP C C G TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr7:31682949C>G ENST00000319386.3 + 11 2514 c.1521C>G c.(1519-1521)gaC>gaG p.D507E CCDC129_ENST00000409210.1_Missense_Mutation_p.D563E|CCDC129_ENST00000407970.3_Missense_Mutation_p.D655E|CCDC129_ENST00000451887.2_Missense_Mutation_p.D681E Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 655 cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31) 44 ATGCAACTGACCTTGCTCAAA 0.488000 40 40 0 0 0.000680045 0 0 PPT2-EGFL8 100532746 broad.mit.edu 37 6 32122816 32122816 + Missense_Mutation SNP G G T TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr6:32122816G>T ENST00000422437.1 + 3 384 c.193G>T c.(193-195)Ggg>Tgg p.G65W PPT2_ENST00000375143.2_Missense_Mutation_p.G65W|PPT2_ENST00000445576.2_Missense_Mutation_p.G65W|PPT2_ENST00000324816.6_Missense_Mutation_p.G65W|PPT2_ENST00000395523.1_Missense_Mutation_p.G65W|PPT2_ENST00000437001.2_Intron|PPT2_ENST00000493548.1_3'UTR|PPT2_ENST00000375137.2_Missense_Mutation_p.G65W|PPT2-EGFL8_ENST00000453656.2_3'UTR|PPT2_ENST00000361568.2_Missense_Mutation_p.G71W GACACACCCCGGGACTGTGGT 0.622000 8 177 0.000157383 0.00309253 0.000157383 1 0 PCDH10 57575 broad.mit.edu 37 4 134072765 134072765 + Silent SNP G G A TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr4:134072765G>A ENST00000264360.4 + 1 2296 c.1470G>A c.(1468-1470)cgG>cgA p.R490R NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 490 Cadherin 5. 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) CCACCGACCGGGATGAGGGCG 0.592000 25 44 0 0 0.00047179 0 0 NFIX 4784 broad.mit.edu 37 19 13184813 13184813 + Missense_Mutation SNP G G A TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr19:13184813G>A ENST00000358552.3 + 4 788 c.788G>A c.(787-789)cGg>cAg p.R263Q NFIX_ENST00000360105.4_Missense_Mutation_p.R267Q|NFIX_ENST00000592199.1_Missense_Mutation_p.R264Q|NFIX_ENST00000588228.1_Missense_Mutation_p.R217Q|NFIX_ENST00000587260.1_Missense_Mutation_p.R263Q|NFIX_ENST00000397661.2_Missense_Mutation_p.R264Q|NFIX_ENST00000585575.1_Missense_Mutation_p.R256Q|NFIX_ENST00000587760.1_Missense_Mutation_p.R256Q|NFIX_ENST00000588680.1_3'UTR Q14938 NFIX_HUMAN nuclear factor I/X (CCAAT-binding transcription factor) 264 DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(19;8.2e-22) CTGGGGCGGCGGTCCATCACC 0.627000 23 46 0 0 0.00106085 0 0 IPCEF1 26034 broad.mit.edu 37 6 154544362 154544362 + Missense_Mutation SNP C C T TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr6:154544362C>T ENST00000265198.4 - 6 414 c.259G>A c.(259-261)Gga>Aga p.G87R IPCEF1_ENST00000367220.4_Missense_Mutation_p.G88R|IPCEF1_ENST00000519344.1_Missense_Mutation_p.G59R|OPRM1_ENST00000337049.4_Intron|IPCEF1_ENST00000422970.2_Missense_Mutation_p.G88R NM_001130700.1|NM_015553.2 NP_001124172.1|NP_056368.1 interaction protein for cytohesin exchange factors 1 breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 12 TTGACAAATCCATCAGCTTTC 0.398000 5 27 0 0 0.00198382 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000404276.1_Silent_p.S372S NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 5 60 0 0 0.000274275 0 0 CARTPT 9607 broad.mit.edu 37 5 71016376 71016376 + Silent SNP G G A TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr5:71016376G>A ENST00000296777.4 + 3 416 c.285G>A c.(283-285)agG>agA p.R95R CARTPT_ENST00000513096.1_3'UTR NM_004291.3 NP_004282.1 Q16568 CART_HUMAN CART prepropeptide 95 activation of MAPKK activity|adult feeding behavior|cellular glucose homeostasis|cellular response to starvation|circadian regulation of gene expression|negative regulation of appetite|negative regulation of bone resorption|negative regulation of osteoclast differentiation|neuropeptide signaling pathway|positive regulation of blood pressure|positive regulation of epinephrine secretion|positive regulation of transmission of nerve impulse|synaptic transmission extracellular space large_intestine(1)|lung(2)|ovary(1) 4 Lung NSC(167;0.00153)|Ovarian(174;0.0175)|Prostate(74;0.11)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;8.4e-56) Amphetamine(DB00182) AAGGGGCAAGGATCGGGAAGC 0.532000 6 18 0 0 0.00116845 0 0 AAED1 195827 broad.mit.edu 37 9 99408252 99408252 + Nonsense_Mutation SNP C C T TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr9:99408252C>T ENST00000375234.3 - 5 475 c.476G>A c.(475-477)tGg>tAg p.W159* NM_153698.1 NP_714542.1 Q7RTV5 CI021_HUMAN AhpC/TSA antioxidant enzyme domain containing 1 159 antioxidant activity|oxidoreductase activity CACTGCCCGCCACAGGCTCTG 0.453000 46 67 0 0 0.00222228 0 0 SCN2A 6326 broad.mit.edu 37 2 166231233 166231233 + Silent SNP C C T TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr2:166231233C>T ENST00000375437.2 + 22 4301 c.4011C>T c.(4009-4011)atC>atT p.I1337I SCN2A_ENST00000375427.2_Silent_p.I1337I|SCN2A_ENST00000357398.3_Silent_p.I1337I|SCN2A_ENST00000283256.6_Silent_p.I1337I NM_001040142.1 NP_001035232.1 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 1337 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) TTCCATCTATCATGAATGTAC 0.343000 31 73 0 0 0.0024448 0 0 DEAF1 10522 broad.mit.edu 37 11 654046 654046 + Silent SNP G G A TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr11:654046G>A ENST00000382409.3 - 11 1993 c.1509C>T c.(1507-1509)tcC>tcT p.S503S DEAF1_ENST00000525904.1_5'UTR|DEAF1_ENST00000338675.6_Silent_p.S428S NM_021008.2 NP_066288.2 O75398 DEAF1_HUMAN DEAF1 transcription factor 503 embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|extracellular region|nucleus protein binding|zinc ion binding breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 24 all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075) AGTTAACGCAGGACTGCTGCA 0.622000 12 14 0 0 0.000978159 0 0 NAV3 89795 broad.mit.edu 37 12 78225316 78225316 + Silent SNP G G A TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr12:78225316G>A ENST00000397909.2 + 1 248 c.75G>A c.(73-75)ccG>ccA p.P25P NAV3_ENST00000536525.2_Silent_p.P25P|NAV3_ENST00000266692.7_Silent_p.P25P|NAV3_ENST00000228327.6_Silent_p.P25P Q8IVL0 NAV3_HUMAN neuron navigator 3 25 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 CTGCTCTTCCGATACCAAATC 0.463000 HNSCC(70;0.22) 52 104 0 0 0.000781405 0 0 SPEF2 79925 broad.mit.edu 37 5 35793345 35793345 + Missense_Mutation SNP C C T TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr5:35793345C>T ENST00000440995.2 + 32 4624 c.4624C>T c.(4624-4626)Ccc>Tcc p.P1542S SPEF2_ENST00000303129.4_Missense_Mutation_p.P344S|SPEF2_ENST00000356031.3_Missense_Mutation_p.P1547S|CTD-2113L7.1_ENST00000510433.1_RNA Q9C093 SPEF2_HUMAN sperm flagellar 2 1547 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AATGCCTTGGCCCATTCCCTT 0.468000 30 59 0 0 0.00178596 0 0 NHLH1 4807 broad.mit.edu 37 1 160340839 160340839 + Silent SNP C C T TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr1:160340839C>T ENST00000302101.5 + 2 764 c.318C>T c.(316-318)ccC>ccT p.P106P NM_005598.3 NP_005589.1 Q02575 HEN1_HUMAN nescient helix loop helix 1 106 Helix-loop-helix motif. cell differentiation|central nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1) 7 all_cancers(52;7.11e-19)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CTACGCTGCCCCCCGACAAGA 0.617000 26 27 0 0 0.000878237 0 0 RP3-368A4.5 0 broad.mit.edu 37 X 73423469 73423469 + RNA SNP A A C TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chrX:73423469A>C ENST00000603037.1 - 0 491 CTATGAACGAAGTCCTTTCCC 0.443000 18 30 0 0 0.000566183 0 0 ZNF385B 151126 broad.mit.edu 37 2 180348096 180348096 + Silent SNP C C T TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr2:180348096C>T ENST00000410066.1 - 6 1176 c.573G>A c.(571-573)acG>acA p.T191T ZNF385B_ENST00000409343.1_Silent_p.T115T|ZNF385B_ENST00000409692.1_Silent_p.T89T|ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000336917.5_Silent_p.T89T NM_152520.4 NP_689733.3 Q569K4 Z385B_HUMAN zinc finger protein 385B 191 nucleus nucleic acid binding|zinc ion binding p.T191T(1) breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 26 Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201) GTTTATTTTTCGTTGCGTCTA 0.468000 19 30 0 0 0.00121646 0 0 MLF2 8079 broad.mit.edu 37 12 6859170 6859170 + Missense_Mutation SNP G G A TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr12:6859170G>A ENST00000203630.5 - 7 1047 c.403C>T c.(403-405)Cgg>Tgg p.R135W MLF2_ENST00000435120.1_Missense_Mutation_p.R135W|MLF2_ENST00000539187.1_Missense_Mutation_p.R135W|MLF2_ENST00000542154.1_Missense_Mutation_p.R135W Q15773 MLF2_HUMAN myeloid leukemia factor 2 135 defense response cytoplasm|nucleus protein binding kidney(2)|large_intestine(3)|lung(4) 9 CGTGTCTCCCGGATCTGGGAT 0.582000 11 21 0 0 0.00136819 0 0 NXF3 56000 broad.mit.edu 37 X 102339391 102339391 + Missense_Mutation SNP T T C TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chrX:102339391T>C ENST00000395065.3 - 3 331 c.230A>G c.(229-231)aAa>aGa p.K77R NXF3_ENST00000425644.1_5'UTR|NXF3_ENST00000425463.2_5'UTR NM_022052.1 NP_071335.1 Q9H4D5 NXF3_HUMAN nuclear RNA export factor 3 77 cytoplasm|nuclear RNA export factor complex nucleocytoplasmic transporter activity|nucleotide binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 AAAACTGCCTTTCCGATTATA 0.433000 50 122 0 0 0.000781405 0 0 COL5A3 50509 broad.mit.edu 37 19 10079359 10079359 + Missense_Mutation SNP C C T TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr19:10079359C>T ENST00000264828.3 - 58 4283 c.4198G>A c.(4198-4200)Ggg>Agg p.G1400R NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 1400 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) ACCTTTTCCCCCTTGGGGCCA 0.577000 8 15 0 0 0.000442599 0 0 MLF2 8079 broad.mit.edu 37 12 6859171 6859171 + Silent SNP G G A TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr12:6859171G>A ENST00000203630.5 - 7 1046 c.402C>T c.(400-402)atC>atT p.I134I MLF2_ENST00000435120.1_Silent_p.I134I|MLF2_ENST00000539187.1_Silent_p.I134I|MLF2_ENST00000542154.1_Silent_p.I134I Q15773 MLF2_HUMAN myeloid leukemia factor 2 134 defense response cytoplasm|nucleus protein binding kidney(2)|large_intestine(3)|lung(4) 9 GTGTCTCCCGGATCTGGGATG 0.577000 10 21 0 0 0.000978159 0 0 WWC2 80014 broad.mit.edu 37 4 184210777 184210777 + Missense_Mutation SNP G G A TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr4:184210777G>A ENST00000403733.3 + 21 3572 c.3373G>A c.(3373-3375)Gct>Act p.A1125T WWC2_ENST00000448232.2_Missense_Mutation_p.A1149T|WWC2_ENST00000508747.1_Missense_Mutation_p.A253T|WWC2_ENST00000504005.1_Missense_Mutation_p.A807T|WWC2_ENST00000513834.1_Missense_Mutation_p.A1076T NM_024949.5 NP_079225.5 Q6AWC2 WWC2_HUMAN WW and C2 domain containing 2 1125 NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3) 32 all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202) all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242) TCTGAAGCAAGCTGAGAAGCA 0.527000 17 43 0 0 0.00152264 0 0 TMEM164 84187 broad.mit.edu 37 X 109247307 109247307 + Missense_Mutation SNP C C A TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chrX:109247307C>A ENST00000372073.1 + 2 641 c.305C>A c.(304-306)aCc>aAc p.T102N TMEM164_ENST00000372068.2_Missense_Mutation_p.T102N|TMEM164_ENST00000288381.4_Missense_Mutation_p.T102N|TMEM164_ENST00000372072.3_Intron Q5U3C3 TM164_HUMAN transmembrane protein 164 102 integral to membrane cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|skin(1) 14 CTGTGCCTGACCTTCGGGGTG 0.587000 50 41 1.61863e-15 3.32898e-14 0.000781405 1 0 THBS2 7058 broad.mit.edu 37 6 169637839 169637839 + Missense_Mutation SNP G G A TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr6:169637839G>A ENST00000366787.3 - 9 1430 c.1181C>T c.(1180-1182)tCc>tTc p.S394F XXyac-YX65C7_A.2_ENST00000444188.1_RNA NM_003247.2 NP_003238.2 P35442 TSP2_HUMAN thrombospondin 2 394 TSP type-1 1. cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 111 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) ACACGTCACGGAGCACTGGGT 0.652000 13 16 0 0 0.000308642 0 0 DENND5B 160518 broad.mit.edu 37 12 31577541 31577541 + Silent SNP C C T TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr12:31577541C>T ENST00000389082.5 - 10 2583 c.2319G>A c.(2317-2319)gaG>gaA p.E773E DENND5B_ENST00000536562.1_Silent_p.E808E|DENND5B_ENST00000306833.6_Silent_p.E808E NM_144973.3 NP_659410.3 Q6ZUT9 DEN5B_HUMAN DENN/MADD domain containing 5B 773 RUN 1. integral to membrane NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 AGGTGTTCTCCTCCAGGCCGG 0.517000 62 89 0 0 0.000781405 0 0 INHBC 3626 broad.mit.edu 37 12 57843480 57843480 + Missense_Mutation SNP G G A TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr12:57843480G>A ENST00000309668.2 + 2 861 c.734G>A c.(733-735)aGg>aAg p.R245K INHBC_ENST00000550133.1_Intron NM_005538.2 NP_005529.1 P55103 INHBC_HUMAN inhibin, beta C 245 growth extracellular region growth factor activity|hormone activity|transforming growth factor beta receptor binding breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1) 16 GGAGGGTCCAGGATGTGCTGT 0.577000 21 20 0 0 0.00152264 0 0 TDRD3 81550 broad.mit.edu 37 13 61102738 61102738 + Missense_Mutation SNP C C T TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr13:61102738C>T ENST00000196169.3 + 11 1888 c.1100C>T c.(1099-1101)tCt>tTt p.S367F TDRD3_ENST00000535286.1_Missense_Mutation_p.S460F|TDRD3_ENST00000377881.2_Missense_Mutation_p.S367F|TDRD3_ENST00000377894.2_Missense_Mutation_p.S367F NM_001146071.1|NM_030794.2 NP_001139543.1|NP_110421.1 Q9H7E2 TDRD3_HUMAN tudor domain containing 3 367 chromatin modification cytoplasm|nucleus chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 40 Prostate(109;0.173)|Breast(118;0.174) GBM - Glioblastoma multiforme(99;0.000291) TCTTCAGTATCTGAAGTATGG 0.373000 25 42 0 0 0.000720815 0 0 BACH2 60468 broad.mit.edu 37 6 90642327 90642327 + Missense_Mutation SNP G G A TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr6:90642327G>A ENST00000257749.4 - 9 3033 c.2326C>T c.(2326-2328)Ccc>Tcc p.P776S BACH2_ENST00000343122.3_Missense_Mutation_p.P776S|BACH2_ENST00000537989.1_Missense_Mutation_p.P776S NM_021813.2 NP_068585.1 Q9BYV9 BACH2_HUMAN BTB and CNC homology 1, basic leucine zipper transcription factor 2 776 nucleus protein dimerization activity|sequence-specific DNA binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 45 all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063) BRCA - Breast invasive adenocarcinoma(108;0.0799) GGTCCGGGGGGAGCCGCGCCT 0.632000 25 36 0 0 0.000586117 0 0 SCN5A 6331 broad.mit.edu 37 3 38645368 38645368 + Silent SNP C C T TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr3:38645368C>T ENST00000413689.1 - 12 1918 c.1725G>A c.(1723-1725)caG>caA p.Q575Q SCN5A_ENST00000450102.2_Silent_p.Q575Q|SCN5A_ENST00000451551.2_Silent_p.Q575Q|SCN5A_ENST00000333535.4_Silent_p.Q575Q|SCN5A_ENST00000425664.1_Silent_p.Q575Q|SCN5A_ENST00000449557.2_Silent_p.Q575Q|SCN5A_ENST00000455624.2_Silent_p.Q575Q|SCN5A_ENST00000443581.1_Silent_p.Q575Q|SCN5A_ENST00000423572.2_Silent_p.Q575Q|SCN5A_ENST00000414099.2_Silent_p.Q575Q NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 575 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) CGGGACTGGGCTGTCCCTGGG 0.627000 33 74 0 0 0.00128727 0 0 FGD2 221472 broad.mit.edu 37 6 36995237 36995237 + Silent SNP G G A TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr6:36995237G>A ENST00000274963.8 + 15 1809 c.1638G>A c.(1636-1638)ctG>ctA p.L546L NM_173558.3 NP_775829.2 Q7Z6J4 FGD2_HUMAN FYVE, RhoGEF and PH domain containing 2 546 PH 2. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 25 ACCAGAGCCTGATGTGCAGCT 0.622000 47 75 0 0 0.000781405 0 0 KIF21A 55605 broad.mit.edu 37 12 39760859 39760859 + Silent SNP T T C TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr12:39760859T>C ENST00000395670.3 - 5 1127 c.708A>G c.(706-708)caA>caG p.Q236Q KIF21A_ENST00000361961.3_Silent_p.Q236Q|KIF21A_ENST00000361418.5_Silent_p.Q236Q|KIF21A_ENST00000541463.2_Silent_p.Q236Q|KIF21A_ENST00000544797.2_Silent_p.Q236Q Q7Z4S6 KI21A_HUMAN kinesin family member 21A 236 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 86 Lung NSC(34;0.179)|all_lung(34;0.213) ACACTCTGGTTTGACACACAT 0.383000 27 38 0 0 0.00209593 0 0 OSBPL10 114884 broad.mit.edu 37 3 31710306 31710306 + Missense_Mutation SNP C C T TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr3:31710306C>T ENST00000396556.2 - 10 2046 c.1924G>A c.(1924-1926)Gaa>Aaa p.E642K OSBPL10_ENST00000438237.2_Missense_Mutation_p.E578K NM_017784.4 NP_060254.2 Q9BXB5 OSB10_HUMAN oxysterol binding protein-like 10 642 lipid transport lipid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 STAD - Stomach adenocarcinoma(1;0.00406) TGCTTCACTTCTGCGGTAACC 0.378000 6 113 0 0 0.00198382 0 0 FGF23 8074 broad.mit.edu 37 12 4488629 4488629 + Silent SNP G G A TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr12:4488629G>A ENST00000237837.1 - 1 265 c.120C>T c.(118-120)atC>atT p.I40I NM_020638.2 NP_065689.1 Q9GZV9 FGF23_HUMAN fibroblast growth factor 23 40 cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process extracellular space growth factor activity NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 22 Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206) TGTACAGGTGGATCAGGCCAC 0.602000 22 42 0 0 0.000586117 0 0 LAMB4 22798 broad.mit.edu 37 7 107738881 107738881 + Missense_Mutation SNP C C T TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr7:107738881C>T ENST00000388781.3 - 11 1410 c.1327G>A c.(1327-1329)Gga>Aga p.G443R LAMB4_ENST00000388780.3_Missense_Mutation_p.G443R|LAMB4_ENST00000205386.4_Missense_Mutation_p.G443R|LAMB4_ENST00000414450.2_Missense_Mutation_p.G443R NM_007356.2 NP_031382.2 A4D0S4 LAMB4_HUMAN laminin, beta 4 443 Laminin EGF-like 3. cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 GCGCTTAGTCCGTAGTGGTTG 0.577000 27 54 0 0 0.00283554 0 0 FER1L5 90342 broad.mit.edu 37 2 97363400 97363400 + RNA SNP G G A TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr2:97363400G>A ENST00000457909.1 + 0 3641 A0AVI2 FR1L5_HUMAN fer-1-like 5 (C. elegans) integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2) 38 CTGCCAGGATGAGTATGAGCA 0.562000 13 17 0 0 0.00136819 0 0 SEC14L4 284904 broad.mit.edu 37 22 30886142 30886142 + Missense_Mutation SNP C C T rs146895070 byFrequency TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr22:30886142C>T ENST00000392772.2 - 12 1332 c.1055G>A c.(1054-1056)aGg>aAg p.R352K SEC14L4_ENST00000540456.1_Silent_p.E376E|SEC14L4_ENST00000381982.3_Intron|SEC14L4_ENST00000255858.7_Silent_p.E391E Q9UDX3 S14L4_HUMAN SEC14-like 4 (S. cerevisiae) 0 GOLD. integral to membrane|intracellular lipid binding|transporter activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1) 21 Vitamin E(DB00163) GCAGCGTCTCCTCAGAGGCCT 0.592000 16 34 0 0 0.000958276 0 0 SLC18A1 6570 broad.mit.edu 37 8 20004873 20004873 + Missense_Mutation SNP C C T TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr8:20004873C>T ENST00000440926.1 - 16 1830 c.1360G>A c.(1360-1362)Gcc>Acc p.A454T SLC18A1_ENST00000265808.7_Missense_Mutation_p.A422T|SLC18A1_ENST00000519026.1_Missense_Mutation_p.A422T|SLC18A1_ENST00000276373.5_Missense_Mutation_p.A454T|SLC18A1_ENST00000437980.1_Intron|SLC18A1_ENST00000381608.4_Intron NM_001135691.2 NP_001129163.1 P54219 VMAT1_HUMAN solute carrier family 18 (vesicular monoamine transporter), member 1 454 neurotransmitter transport clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction drug transmembrane transporter activity|monoamine transmembrane transporter activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 29 Colorectal(74;0.0747) AAACCGATGGCCTTTACAATG 0.537000 18 12 0 0 0.00188189 0 0 FAM193B 54540 broad.mit.edu 37 5 176951979 176951979 + Silent SNP G G A TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr5:176951979G>A ENST00000329540.5 - 9 3210 c.381C>T c.(379-381)ggC>ggT p.G127G FAM193B_ENST00000443375.2_Silent_p.G468G|FAM193B_ENST00000514747.1_Silent_p.G501G Q6IPW0 Q6IPW0_HUMAN family with sequence similarity 193, member B 177 kidney(1)|large_intestine(3) 4 CCTTAGAGAAGCCATTGCTGT 0.557000 16 29 0 0 0.000566183 0 0 FFAR3 2865 broad.mit.edu 37 19 35850670 35850670 + Missense_Mutation SNP G G A TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr19:35850670G>A ENST00000327809.4 + 2 1079 c.878G>A c.(877-879)aGg>aAg p.R293K FFAR3_ENST00000594310.1_Missense_Mutation_p.R293K NM_005304.3 NP_005295.1 O14843 FFAR3_HUMAN free fatty acid receptor 3 293 integral to plasma membrane G-protein coupled receptor activity|lipid binding endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1) 17 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221) CTGCTGAGGAGGTTGTGTGGG 0.592000 6 37 0 0 0.00178596 0 0 FRMD4B 23150 broad.mit.edu 37 3 69231777 69231777 + Silent SNP G G T TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr3:69231777G>T ENST00000542259.1 - 21 2300 c.1849C>A c.(1849-1851)Cga>Aga p.R617R FRMD4B_ENST00000398540.3_Silent_p.R671R|FRMD4B_ENST00000478263.1_Silent_p.R323R Q9Y2L6 FRM4B_HUMAN FERM domain containing 4B 671 cytoplasm|cytoskeleton binding NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2) 19 Lung NSC(201;0.0138)|Prostate(884;0.11) BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182) TAGGCGTTTCGGGTAAGAACT 0.502000 19 797 0.000375601 0.00724206 0.00278032 1 0 CLRN1 7401 broad.mit.edu 37 3 150659495 150659495 + Missense_Mutation SNP G G A TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr3:150659495G>A ENST00000327047.1 - 2 597 c.307C>T c.(307-309)Ctc>Ttc p.L103F CLRN1-AS1_ENST00000476886.1_RNA|RP11-166N6.2_ENST00000469268.1_RNA|CLRN1_ENST00000295911.2_Missense_Mutation_p.L27F|CLRN1_ENST00000328863.4_Missense_Mutation_p.L103F|RP11-166N6.3_ENST00000569170.1_Silent_p.F12F NM_174878.2 NP_777367.1 P58418 CLRN1_HUMAN clarin 1 103 equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound integral to membrane autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2) 14 LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) GCAGAGAAGAGAATGACATTG 0.418000 16 9 0 0 0.000422831 0 0 TRBV5-1 28614 broad.mit.edu 37 7 142021110 142021110 + RNA SNP G G A TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr7:142021110G>A ENST00000390381.3 + 0 399 CAAGATATCTGATCAAAACGA 0.547000 28 19 0 0 0.00209593 0 0 DIS3L2 129563 broad.mit.edu 37 2 233194675 233194675 + Missense_Mutation SNP C C T TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr2:233194675C>T ENST00000325385.7 + 15 2168 c.1892C>T c.(1891-1893)cCc>cTc p.P631L DIS3L2_ENST00000409307.1_Missense_Mutation_p.P631L|DIS3L2_ENST00000273009.6_Intron NM_152383.4 NP_689596.4 Q8IYB7 DI3L2_HUMAN DIS3 mitotic control homolog (S. cerevisiae)-like 2 631 exonuclease activity|ribonuclease activity|RNA binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1) 40 all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136) Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149) ATGGGGCTGCCCGTGGACTTC 0.657000 24 34 0 0 0.00058488 0 0 MUC1 4582 broad.mit.edu 37 1 155160286 155160286 + Silent SNP G G T TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr1:155160286G>T ENST00000368395.1 - 5 1064 c.993C>A c.(991-993)acC>acA p.T331T MUC1_ENST00000342482.4_Intron|MUC1_ENST00000368396.4_Intron|MUC1_ENST00000368392.3_Silent_p.T120T|MUC1_ENST00000462215.1_5'UTR|MUC1_ENST00000343256.5_Intron|MUC1_ENST00000337604.5_Silent_p.T129T|MUC1_ENST00000438413.1_Silent_p.T85T|MUC1_ENST00000368398.3_Silent_p.T86T|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000457295.2_Silent_p.T120T|MUC1_ENST00000368393.3_Silent_p.T129T|MUC1_ENST00000368390.3_Silent_p.T111T|MUC1_ENST00000338684.5_Silent_p.T80T NM_001204285.1|NM_001204286.1 NP_001191214.1|NP_001191215.1 P15941 MUC1_HUMAN mucin 1, cell surface associated 1111 42 X 20 AA approximate tandem repeats of P-A-P-G-S-T-A-P-P-A-H-G-V-T-S-A-P-D-T-R. apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus protein binding breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2) 10 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) GGACATTGATGGTACCTTCTC 0.537000 T IGH@ B-NHL 29 5 2.12542e-12 4.34232e-11 0.00106085 1 0 TMEM259 91304 broad.mit.edu 37 19 1013313 1013313 + Silent SNP C C A TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr19:1013313C>A ENST00000356663.3 - 3 655 c.534G>T c.(532-534)gtG>gtT p.V178V TMEM259_ENST00000333175.5_Silent_p.V178V NM_001033026.1 NP_001028198.1 transmembrane protein 259 GCGGCTTGAACACCTTGGGCT 0.637000 21 36 4.4004e-07 8.81509e-06 0.00047179 1 0 CLCA1 1179 broad.mit.edu 37 1 86959145 86959145 + Missense_Mutation SNP G G T TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr1:86959145G>T ENST00000234701.3 + 11 1894 c.1543G>T c.(1543-1545)Gac>Tac p.D515Y CLCA1_ENST00000394711.1_Missense_Mutation_p.D515Y A8K7I4 CLCA1_HUMAN chloride channel accessory 1 515 calcium ion transport extracellular space|integral to plasma membrane chloride channel activity NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 Lung NSC(277;0.239) all cancers(265;0.0249)|Epithelial(280;0.0476) CGTGGGAAAGGACACTTTGTT 0.483000 49 9 7.06795e-37 1.47328e-35 0.000781405 1 0 SEL1L3 23231 broad.mit.edu 37 4 25835070 25835070 + Splice_Site SNP C C T TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr4:25835070C>T ENST00000399878.3 - 4 1104 c.982_splice c.e4+1 p.G328_splice SEL1L3_ENST00000502949.1_Splice_Site_p.G175_splice|SEL1L3_ENST00000264868.5_Splice_Site_p.G293_splice|SEL1L3_ENST00000513364.1_5'UTR NM_015187.3 NP_056002.2 Q68CR1 SE1L3_HUMAN sel-1 suppressor of lin-12-like 3 (C. elegans) 328 integral to membrane binding breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2) 14 TTATACTCACCCTCTTCCGTA 0.373000 10 34 0 0 0.00136819 0 0 PHF2 5253 broad.mit.edu 37 9 96418822 96418822 + Silent SNP C C T TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr9:96418822C>T ENST00000359246.4 + 9 1459 c.1092C>T c.(1090-1092)ccC>ccT p.P364P PHF2_ENST00000375376.4_Intron NM_005392.3 NP_005383.3 O75151 PHF2_HUMAN PHD finger protein 2 364 liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;9.11e-28) CTCAGTTTCCCAACTTTGAAA 0.552000 178 42 0 0 0.000781405 0 0 NFIX 4784 broad.mit.edu 37 19 13184814 13184814 + Silent SNP G G A TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr19:13184814G>A ENST00000358552.3 + 4 789 c.789G>A c.(787-789)cgG>cgA p.R263R NFIX_ENST00000360105.4_Silent_p.R267R|NFIX_ENST00000592199.1_Silent_p.R264R|NFIX_ENST00000588228.1_Silent_p.R217R|NFIX_ENST00000587260.1_Silent_p.R263R|NFIX_ENST00000397661.2_Silent_p.R264R|NFIX_ENST00000585575.1_Silent_p.R256R|NFIX_ENST00000587760.1_Silent_p.R256R|NFIX_ENST00000588680.1_3'UTR Q14938 NFIX_HUMAN nuclear factor I/X (CCAAT-binding transcription factor) 264 DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(19;8.2e-22) TGGGGCGGCGGTCCATCACCT 0.627000 24 45 0 0 0.00106085 0 0 TTN 7273 broad.mit.edu 37 2 179632581 179632581 + Missense_Mutation SNP T T C TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr2:179632581T>C ENST00000589042.1 - 40 9600 c.9376A>G c.(9376-9378)Aag>Gag p.K3126E TTN_ENST00000342992.6_Missense_Mutation_p.K3126E|TTN_ENST00000359218.5_Missense_Mutation_p.K3080E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K3080E|TTN_ENST00000460472.2_Missense_Mutation_p.K3080E|TTN_ENST00000360870.5_Missense_Mutation_p.K3126E|TTN_ENST00000591111.1_Missense_Mutation_p.K3126E NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 2863 Ig-like 18. 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) ACTGTGTACTTCCCAGCATCA 0.448000 27 42 0 0 0.000720815 0 0 SERPINB13 5275 broad.mit.edu 37 18 61262349 61262349 + Silent SNP G G A TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr18:61262349G>A ENST00000344731.5 + 7 804 c.702G>A c.(700-702)ggG>ggA p.G234G SERPINB13_ENST00000269489.5_Intron NM_012397.3 NP_036529.1 Q9UIV8 SPB13_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 13 234 regulation of proteolysis|response to UV cytoplasm|extracellular region serine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1) 25 AAATTCTAGGGATTCCATATA 0.423000 39 63 0 0 0.00148497 0 0 FBN2 2201 broad.mit.edu 37 5 127666379 127666379 + Missense_Mutation SNP C C T TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr5:127666379C>T ENST00000508053.1 - 39 5205 c.4231G>A c.(4231-4233)Gaa>Aaa p.E1411K FBN2_ENST00000507835.1_Missense_Mutation_p.E261K|FBN2_ENST00000508989.1_Missense_Mutation_p.E1378K|FBN2_ENST00000262464.4_Missense_Mutation_p.E1411K P35556 FBN2_HUMAN fibrillin 2 1411 EGF-like 23; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent p.E1411Q(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) TTAGAACATTCGTCCAGATCT 0.428000 13 21 0 0 0.000308642 0 0 SPAG8 26206 broad.mit.edu 37 9 35811380 35811380 + Silent SNP C C T TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr9:35811380C>T ENST00000340291.2 - 2 787 c.663G>A c.(661-663)gtG>gtA p.V221V SPAG8_ENST00000479751.1_5'UTR|SPAG8_ENST00000396638.2_Silent_p.V221V|SPAG8_ENST00000484764.1_Silent_p.V219V NM_172312.1 NP_758516.1 Q99932 SPAG8_HUMAN sperm associated antigen 8 221 acrosomal vesicle|membrane NS(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_epithelial(49;0.161) LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194) CCCGATCTGCCACCAGGTTTC 0.582000 88 32 0 0 0.000781405 0 0 OR2T3 343173 broad.mit.edu 37 1 248637452 248637452 + Silent SNP G G A TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr1:248637452G>A ENST00000359594.2 + 1 826 c.801G>A c.(799-801)ccG>ccA p.P267P NM_001005495.1 NP_001005495.1 Q8NH03 OR2T3_HUMAN olfactory receptor, family 2, subfamily T, member 3 267 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3) 31 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ACATGCTCCCGAGTTCCTACC 0.547000 128 169 0 0 0.000781405 0 0 LAMA2 3908 broad.mit.edu 37 6 129609164 129609164 + Missense_Mutation SNP G G A TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr6:129609164G>A ENST00000421865.2 + 19 2759 c.2710G>A c.(2710-2712)Gga>Aga p.G904R NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 904 Laminin EGF-like 8. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) CTGTGCTGATGGATATTTTGG 0.478000 66 96 0 0 0.000781405 0 0 DIS3L2 129563 broad.mit.edu 37 2 233194676 233194676 + Silent SNP C C T TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr2:233194676C>T ENST00000325385.7 + 15 2169 c.1893C>T c.(1891-1893)ccC>ccT p.P631P DIS3L2_ENST00000409307.1_Silent_p.P631P|DIS3L2_ENST00000273009.6_Intron NM_152383.4 NP_689596.4 Q8IYB7 DI3L2_HUMAN DIS3 mitotic control homolog (S. cerevisiae)-like 2 631 exonuclease activity|ribonuclease activity|RNA binding p.P631P(1) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1) 40 all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136) Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149) TGGGGCTGCCCGTGGACTTCA 0.652000 24 34 0 0 0.00058488 0 0 CDH20 28316 broad.mit.edu 37 18 59212367 59212367 + Silent SNP G G A TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr18:59212367G>A ENST00000262717.4 + 10 2036 c.1638G>A c.(1636-1638)agG>agA p.R546R CDH20_ENST00000538374.1_Silent_p.R546R|CDH20_ENST00000536675.2_Silent_p.R546R Q9HBT6 CAD20_HUMAN cadherin 20, type 2 546 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3) 61 Colorectal(73;0.186) TTACCATAAGGGACAACCAAG 0.488000 31 72 0 0 0.00128727 0 0 ADSSL1 122622 broad.mit.edu 37 14 105201410 105201410 + Silent SNP C C T TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr14:105201410C>T ENST00000332972.5 + 2 534 c.375C>T c.(373-375)ttC>ttT p.F125F ADSSL1_ENST00000330877.2_Silent_p.F82F NM_199165.1 NP_954634.1 Q8N142 PURA1_HUMAN adenylosuccinate synthase like 1 82 AMP biosynthetic process|immune system process|purine base metabolic process cytosol adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1) 11 all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.18) L-Aspartic Acid(DB00128) AGTACGACTTCCACCTGCTGC 0.612000 8 10 0 0 0.000274275 0 0 STAB1 23166 broad.mit.edu 37 3 52551984 52551984 + Missense_Mutation SNP G G A TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr3:52551984G>A ENST00000321725.6 + 45 4802 c.4726G>A c.(4726-4728)Ggg>Agg p.G1576R NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 1576 EGF-like 13. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) CCACACCGTGGGGGACGGCCT 0.617000 25 22 0 0 0.001512 0 0 PALM2-AKAP2 445815 broad.mit.edu 37 9 112778263 112778263 + Missense_Mutation SNP G G A TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr9:112778263G>A ENST00000374530.3 + 7 706 c.526G>A c.(526-528)Gaa>Aaa p.E176K AKAP2_ENST00000555236.1_Missense_Mutation_p.E176K|AKAP2_ENST00000510514.5_Missense_Mutation_p.E176K|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.E176K NM_007203.4|NM_147150.2 NP_009134.1|NP_671492.1 Q9Y2D5 AKAP2_HUMAN 0 enzyme binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 44 GCTGCTAAAGGAAGGTGAGTC 0.453000 24 24 0 0 0.000878237 0 0 GRIK3 2899 broad.mit.edu 37 1 37267467 37267467 + Silent SNP G G A TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr1:37267467G>A ENST00000373091.3 - 16 2761 c.2745C>T c.(2743-2745)gcC>gcT p.A915A NM_000831.3 NP_000822.2 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 915 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) GGAACACAGGGGCTAAGGATG 0.612000 39 13 0 0 0.00222228 0 0 C6orf165 154313 broad.mit.edu 37 6 88173915 88173915 + Missense_Mutation SNP G G A TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr6:88173915G>A ENST00000507897.1 + 13 1899 c.1816G>A c.(1816-1818)Gaa>Aaa p.E606K C6orf165_ENST00000506888.1_3'UTR|C6ORF165_ENST00000369562.4_Missense_Mutation_p.E606K Q8IYR0 CF165_HUMAN chromosome 6 open reading frame 165 606 NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0419) AGGAAAGAGCGAAATCACCGA 0.458000 17 19 0 0 0.000566183 0 0 SLC8A3 6547 broad.mit.edu 37 14 70633363 70633363 + Missense_Mutation SNP C C T TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr14:70633363C>T ENST00000381269.2 - 2 2530 c.1777G>A c.(1777-1779)Gaa>Aaa p.E593K SLC8A3_ENST00000356921.2_Missense_Mutation_p.E593K|SLC8A3_ENST00000534137.1_Missense_Mutation_p.E593K|SLC8A3_ENST00000528359.1_Missense_Mutation_p.E593K|SLC8A3_ENST00000357887.3_Missense_Mutation_p.E593K NM_058240.2|NM_183002.1 NP_489479.1|NP_892114.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 593 Calx-beta 2. cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) TACACAGTTTCATCATTCTTG 0.468000 12 45 0 0 0.000978159 0 0 SLC22A9 114571 broad.mit.edu 37 11 63138704 63138704 + Missense_Mutation SNP C C T TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr11:63138704C>T ENST00000279178.3 + 2 749 c.500C>T c.(499-501)tCa>tTa p.S167L SLC22A9_ENST00000310969.4_Missense_Mutation_p.S167L NM_080866.2 NP_543142.2 Q8IVM8 S22A9_HUMAN solute carrier family 22 (organic anion transporter), member 9 167 transmembrane transport integral to membrane breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 18 GGTCATTTATCAGACAGGTGA 0.393000 15 33 0 0 0.000566183 0 0 DNM2 1785 broad.mit.edu 37 19 10941011 10941011 + Silent SNP C C A TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr19:10941011C>A ENST00000314646.5 + 20 2664 c.2500C>A c.(2500-2502)Cgg>Agg p.R834R DNM2_ENST00000408974.4_Silent_p.R830R|DNM2_ENST00000389253.4_Silent_p.R834R|DNM2_ENST00000359692.6_Silent_p.R830R|DNM2_ENST00000355667.6_Silent_p.R834R|DNM2_ENST00000585892.1_Silent_p.R834R P50570 DYN2_HUMAN dynamin 2 834 Pro-rich. G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane GTP binding|GTPase activity|microtubule binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 42 Epithelial(33;4.17e-05)|all cancers(31;8.48e-05) GATCCCATCTCGGCCAGTTCG 0.672000 """F, N, Splice, Mis, O""" ETP ALL 23 21 1.96895e-08 3.99619e-07 0.00278032 1 0 TEKT3 64518 broad.mit.edu 37 17 15234335 15234335 + Missense_Mutation SNP C C T TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr17:15234335C>T ENST00000395930.1 - 3 754 c.568G>A c.(568-570)Gcc>Acc p.A190T TEKT3_ENST00000338696.2_Missense_Mutation_p.A190T NM_031898.2 NP_114104.1 Q9BXF9 TEKT3_HUMAN tektin 3 190 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 23 UCEC - Uterine corpus endometrioid carcinoma (92;0.0877) TGAAGAGGGGCTTCAGTCTCC 0.368000 15 9 0 0 0.000566183 0 0 MGAM 8972 broad.mit.edu 37 7 141773958 141773958 + Missense_Mutation SNP G G A TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr7:141773958G>A ENST00000475668.2 + 45 5314 c.5260G>A c.(5260-5262)Gat>Aat p.D1754N MGAM_ENST00000549489.2_Intron O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1754 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) TTTCTGGGATGATGGGCAAAC 0.453000 12 24 0 0 0.00244969 0 0 SSTR1 6751 broad.mit.edu 37 14 38678811 38678811 + Silent SNP C C T TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr14:38678811C>T ENST00000267377.2 + 3 834 c.217C>T c.(217-219)Ctg>Ttg p.L73L NM_001049.2 NP_001040.1 P30872 SSR1_HUMAN somatostatin receptor 1 73 digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient integral to plasma membrane somatostatin receptor activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00444) Octreotide(DB00104) CCTGGTGGGGCTGTGTGGGAA 0.567000 18 36 0 0 0.00074312 0 0 SPTB 6710 broad.mit.edu 37 14 65260293 65260293 + Silent SNP G G A TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr14:65260293G>A ENST00000389722.3 - 13 2141 c.2088C>T c.(2086-2088)atC>atT p.I696I SPTB_ENST00000556626.1_Silent_p.I696I|SPTB_ENST00000389721.5_Silent_p.I696I|SPTB_ENST00000542895.1_Silent_p.I696I|SPTB_ENST00000389720.3_Silent_p.I696I NM_001024858.2 NP_001020029.1 P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 696 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) CCTCCTGGAAGATCTGCTCCA 0.587000 15 13 0 0 0.000422831 0 0 RGR 5995 broad.mit.edu 37 10 86018377 86018377 + Missense_Mutation SNP G G T TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr10:86018377G>T ENST00000359452.4 + 7 908 c.870G>T c.(868-870)gaG>gaT p.E290D RGR_ENST00000358110.5_Missense_Mutation_p.E248D|RGR_ENST00000479725.1_3'UTR NM_001012720.1|NM_002921.3 NP_001012738.1|NP_002912.2 P47804 RGR_HUMAN retinal G protein coupled receptor 286 phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity|protein binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1) 17 AGAAGAGGGAGAAGGACCGAA 0.602000 15 6 6.31663e-08 1.27365e-06 0.000308642 1 0 IRAK1 3654 broad.mit.edu 37 X 153284759 153284759 + Missense_Mutation SNP G G A TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chrX:153284759G>A ENST00000369980.3 - 3 492 c.325C>T c.(325-327)Ccg>Tcg p.P109S IRAK1_ENST00000369974.2_Missense_Mutation_p.P109S|IRAK1_ENST00000393682.1_Missense_Mutation_p.P135S|IRAK1_ENST00000393687.2_Missense_Mutation_p.P109S|IRAK1_ENST00000429936.2_Missense_Mutation_p.P135S NM_001025242.1|NM_001569.3 NP_001020413.1|NP_001560.2 P51617 IRAK1_HUMAN interleukin-1 receptor-associated kinase 1 109 activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway cytosol|endosome membrane|interleukin-1 receptor complex ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2) 25 all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CCTGGGGACGGAAGCGGGGCG 0.741000 7 15 0 0 0.000442599 0 0 ARL5A 26225 broad.mit.edu 37 2 152670746 152670746 + Missense_Mutation SNP C C G TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr2:152670746C>G ENST00000295087.8 - 3 503 c.192G>C c.(190-192)atG>atC p.M64I ARL5A_ENST00000428992.2_Missense_Mutation_p.M27I NM_001037174.1|NM_012097.3 NP_001032251.1|NP_036229.1 Q9Y689 ARL5A_HUMAN ADP-ribosylation factor-like 5A 64 small GTPase mediated signal transduction intracellular GTP binding breast(1)|large_intestine(2)|liver(1)|lung(2) 6 BRCA - Breast invasive adenocarcinoma(221;0.153) CAATATCCCACATTAGGAAAC 0.328000 9 148 0 0 0.000274275 0 0 TENM4 26011 broad.mit.edu 37 11 78380792 78380792 + Missense_Mutation SNP C C T TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr11:78380792C>T ENST00000278550.7 - 32 7060 c.6598G>A c.(6598-6600)Ggc>Agc p.G2200S NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 TGCAGCTGGCCGTCAGCATCA 0.542000 21 37 0 0 0.00121646 0 0 TP63 8626 broad.mit.edu 37 3 189526072 189526072 + Silent SNP G G A TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr3:189526072G>A ENST00000264731.3 + 4 425 c.336G>A c.(334-336)acG>acA p.T112T TP63_ENST00000392460.3_Silent_p.T112T|TP63_ENST00000418709.2_Silent_p.T112T|TP63_ENST00000449992.1_Intron|TP63_ENST00000440651.2_Silent_p.T112T|TP63_ENST00000456148.1_Silent_p.T18T|TP63_ENST00000437221.1_Silent_p.T18T|TP63_ENST00000392463.2_Silent_p.T18T|TP63_ENST00000382063.4_Intron|TP63_ENST00000354600.5_Silent_p.T18T|TP63_ENST00000392461.3_Silent_p.T18T|TP63_ENST00000320472.5_Silent_p.T112T NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 112 anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) CACAGTACACGAACCTGGGGC 0.547000 HNSCC(45;0.13) 22 14 0 0 0.000720815 0 0 FGF23 8074 broad.mit.edu 37 12 4488628 4488628 + Missense_Mutation SNP G G A TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr12:4488628G>A ENST00000237837.1 - 1 266 c.121C>T c.(121-123)Cac>Tac p.H41Y NM_020638.2 NP_065689.1 Q9GZV9 FGF23_HUMAN fibroblast growth factor 23 41 cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process extracellular space growth factor activity NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 22 Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206) GTGTACAGGTGGATCAGGCCA 0.602000 22 42 0 0 0.000720815 0 0 FLCN 201163 broad.mit.edu 37 17 17122455 17122455 + Missense_Mutation SNP G G A TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr17:17122455G>A ENST00000285071.4 - 9 1394 c.940C>T c.(940-942)Cca>Tca p.P314S RP11-45M22.4_ENST00000427497.3_Intron NM_144997.5 NP_659434.2 Q8NFG4 FLCN_HUMAN folliculin 314 regulation of protein phosphorylation cytoplasm|nucleus|plasma membrane protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 GTACTCTCTGGCAACACAGGG 0.562000 Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome 71 58 0 0 0.000781405 0 0 SPAM1 6677 broad.mit.edu 37 7 123594215 123594215 + Silent SNP G G A TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr7:123594215G>A ENST00000340011.5 + 3 948 c.591G>A c.(589-591)aaG>aaA p.K197K SPAM1_ENST00000402183.2_Silent_p.K197K|SPAM1_ENST00000223028.7_Silent_p.K197K|SPAM1_ENST00000460182.1_Silent_p.K197K|SPAM1_ENST00000439500.1_Silent_p.K197K NM_003117.4 NP_003108.2 P38567 HYALP_HUMAN sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) 197 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 Hyaluronidase(DB00070) AGGCAGGGAAGGATTTCCTGG 0.373000 26 73 0 0 0.00106085 0 0 EPB41L4B 54566 broad.mit.edu 37 9 111976086 111976086 + Missense_Mutation SNP C C T TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr9:111976086C>T ENST00000374566.3 - 17 2163 c.1646G>A c.(1645-1647)gGa>gAa p.G549E NM_019114.3 NP_061987.3 Q9H329 E41LB_HUMAN erythrocyte membrane protein band 4.1 like 4B 549 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|structural constituent of cytoskeleton NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GGCAGGTGTTCCTGGACTCAG 0.502000 45 10 0 0 0.000781405 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 45 48 0 0 0.000781405 0 0 RFX6 222546 broad.mit.edu 37 6 117198636 117198636 + Silent SNP G G A TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr6:117198636G>A ENST00000332958.2 + 1 214 c.198G>A c.(196-198)ccG>ccA p.P66P NM_173560.3 NP_775831.2 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 66 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 GCGAAGACCCGGAGCTGCCGG 0.617000 4 5 0 0 0.00024832 0 0 ARAP1 116985 broad.mit.edu 37 11 72412700 72412700 + Silent SNP G G T rs145351119 byFrequency TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr11:72412700G>T ENST00000359373.5 - 16 3147 c.2296C>A c.(2296-2298)Cgg>Agg p.R766R ARAP1_ENST00000393609.3_Silent_p.R766R|ARAP1-AS2_ENST00000500163.2_RNA|ARAP1_ENST00000393605.3_Silent_p.R526R|ARAP1_ENST00000426523.1_Silent_p.R521R|ARAP1_ENST00000455638.2_Silent_p.R766R|ARAP1_ENST00000429686.1_Silent_p.R460R|ARAP1_ENST00000334211.8_Silent_p.R521R Q96P48 ARAP1_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 766 PH 3. actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction cytosol|Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1) 27 CCACCTTCCCGGGCCCGGCGG 0.637000 8 266 0.000274275 0.00532163 0.000274275 1 0 TNPO3 23534 broad.mit.edu 37 7 128615931 128615931 + Missense_Mutation SNP A A C TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr7:128615931A>C ENST00000393245.1 - 17 2595 c.2222T>G c.(2221-2223)cTt>cGt p.L741R TNPO3_ENST00000471166.1_Missense_Mutation_p.L741R|TNPO3_ENST00000265388.5_Missense_Mutation_p.L707R|TNPO3_ENST00000482320.1_Missense_Mutation_p.L641R|TNPO3_ENST00000471234.1_Missense_Mutation_p.L643R NM_012470.3 NP_036602.1 Q9Y5L0 TNPO3_HUMAN transportin 3 707 splicing factor protein import into nucleus cytoplasm|nucleus protein binding|receptor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3) 22 TTCATCCACAAGGATACTGCC 0.478000 22 26 0 0 0.00188189 0 0 CD163 9332 broad.mit.edu 37 12 7639175 7639175 + Missense_Mutation SNP G G A TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr12:7639175G>A ENST00000359156.4 - 10 2580 c.2378C>T c.(2377-2379)tCc>tTc p.S793F CD163_ENST00000541972.1_Missense_Mutation_p.S781F|CD163_ENST00000432237.2_Missense_Mutation_p.S793F|CD163_ENST00000396620.3_Missense_Mutation_p.S826F NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 793 SRCR 7. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 CCAAATGCGGGATTCTTTTCC 0.512000 78 102 0 0 0.000781405 0 0 GRIA4 2893 broad.mit.edu 37 11 105774667 105774667 + Missense_Mutation SNP C C T TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr11:105774667C>T ENST00000393127.2 + 8 1459 c.1013C>T c.(1012-1014)cCa>cTa p.P338L GRIA4_ENST00000530497.1_Missense_Mutation_p.P338L|GRIA4_ENST00000428631.2_Missense_Mutation_p.P338L|GRIA4_ENST00000525187.1_Missense_Mutation_p.P338L|GRIA4_ENST00000282499.5_Missense_Mutation_p.P338L|GRIA4_ENST00000393125.2_Missense_Mutation_p.P338L NM_001077243.2 NP_001070711.2 P48058 GRIA4_HUMAN glutamate receptor, ionotropic, AMPA 4 338 glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 82 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) CCTGCTGCTCCATGGGGCCAG 0.423000 43 74 0 0 0.00285205 0 0 NPAS3 64067 broad.mit.edu 37 14 34269592 34269592 + Silent SNP C C T TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr14:34269592C>T ENST00000346562.2 + 11 2057 c.1983C>T c.(1981-1983)tcC>tcT p.S661S NPAS3_ENST00000551492.1_Silent_p.S698S|NPAS3_ENST00000548645.1_Silent_p.S663S|NPAS3_ENST00000357798.5_Silent_p.S680S|NPAS3_ENST00000356141.4_Silent_p.S693S NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2 NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1 Q8IXF0 NPAS3_HUMAN neuronal PAS domain protein 3 693 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 40 Breast(36;0.0102)|Hepatocellular(127;0.133) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968) GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115) ACTTCCCGTCCCCGCAGGGCG 0.726000 22 26 0 0 0.00229938 0 0 WDR90 197335 broad.mit.edu 37 16 705369 705369 + Missense_Mutation SNP C C T TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr16:705369C>T ENST00000549091.1 + 15 1711 c.1619C>T c.(1618-1620)tCc>tTc p.S540F LA16c-349E10.1_ENST00000573609.1_RNA|WDR90_ENST00000293879.4_Missense_Mutation_p.S540F NM_145294.4 NP_660337.3 Q96KV7 WDR90_HUMAN WD repeat domain 90 540 endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 37 Hepatocellular(780;0.0218) GTGCTGCGTTCCTGCCCCGTG 0.701000 14 15 0 0 0.000308642 0 0 EVA1C 59271 broad.mit.edu 37 21 33887456 33887456 + Missense_Mutation SNP G G T TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr21:33887456G>T ENST00000300255.2 + 8 1755 c.1282G>T c.(1282-1284)Ggt>Tgt p.G428C EVA1C_ENST00000382699.3_Missense_Mutation_p.G425C|EVA1C_ENST00000485488.1_3'UTR|EVA1C_ENST00000401402.3_Missense_Mutation_p.G380C NM_058187.3 NP_478067.2 eva-1 homolog C (C. elegans) GATGAACAGTGGTTTGGACAC 0.458000 7 123 7.48243e-07 1.48924e-05 0.000442599 1 0 COL19A1 1310 broad.mit.edu 37 6 70894614 70894614 + Missense_Mutation SNP G G A TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr6:70894614G>A ENST00000322773.4 + 45 2897 c.2795G>A c.(2794-2796)gGa>gAa p.G932E COL19A1_ENST00000393344.1_Missense_Mutation_p.G554E NM_001858.4 NP_001849.2 Q14993 COJA1_HUMAN collagen, type XIX, alpha 1 932 Triple-helical region 5 (COL5). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 109 GGAAAAGATGGAATACCAGGT 0.313000 35 58 0 0 0.000692331 0 0 HJURP 55355 broad.mit.edu 37 2 234749971 234749971 + Silent SNP C C T TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr2:234749971C>T ENST00000411486.2 - 8 1520 c.1455G>A c.(1453-1455)ctG>ctA p.L485L HJURP_ENST00000432087.1_Silent_p.L431L|HJURP_ENST00000441687.1_Silent_p.L400L NM_018410.3 NP_060880.3 Q8NCD3 HJURP_HUMAN Holliday junction recognition protein 485 cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm DNA binding|histone binding NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128) Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829) AAGGTAAACTCAGCCTGCGGG 0.547000 26 41 0 0 0.000878237 0 0 PCNXL2 80003 broad.mit.edu 37 1 233136157 233136157 + Missense_Mutation SNP G G A TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr1:233136157G>A ENST00000258229.8 - 30 5456 c.5222C>T c.(5221-5223)tCc>tTc p.S1741F PCNXL2_ENST00000344698.2_Missense_Mutation_p.S393F NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) 1741 integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) TTCCTTGTTGGACAGCACTGC 0.607000 50 22 0 0 0.000781405 0 0 TBC1D32 221322 broad.mit.edu 37 6 121625979 121625979 + Splice_Site SNP C C T TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr6:121625979C>T ENST00000275159.6 - 6 690 c.690_splice c.e6-1 p.D231_splice TBC1D32_ENST00000398212.2_Splice_Site_p.D231_splice TBC1 domain family, member 32 AAAATCCGGTCCTACGGAAAT 0.299000 33 64 0 0 0.000692331 0 0 NACC1 112939 broad.mit.edu 37 19 13247126 13247126 + Missense_Mutation SNP C C T TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr19:13247126C>T ENST00000292431.4 + 3 1153 c.1027C>T c.(1027-1029)Ctc>Ttc p.L343F NM_052876.3 NP_443108.1 Q96RE7 NACC1_HUMAN nucleus accumbens associated 1, BEN and BTB (POZ) domain containing 343 negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent cytoplasm|nuclear body endometrium(3)|large_intestine(2)|lung(3)|skin(1) 9 CCTGGCGTCTCTCCCGGCTGA 0.647000 17 45 0 0 0.000958276 0 0 ADCY8 114 broad.mit.edu 37 8 131859680 131859680 + Missense_Mutation SNP G G A TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr8:131859680G>A ENST00000286355.5 - 11 4584 c.2492C>T c.(2491-2493)tCc>tTc p.S831F ADCY8_ENST00000377928.3_Intron NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 831 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) CTCTGGGTAGGAGCAGATATC 0.413000 HNSCC(32;0.087) 26 50 0 0 0.00106085 0 0 SEMA3E 9723 broad.mit.edu 37 7 83032082 83032082 + Nonsense_Mutation SNP G G A TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr7:83032082G>A ENST00000307792.3 - 10 1476 c.1009C>T c.(1009-1011)Cga>Tga p.R337* SEMA3E_ENST00000427262.1_Nonsense_Mutation_p.R277* NM_012431.2 NP_036563.1 O15041 SEM3E_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E 337 Sema. axon guidance extracellular space|membrane receptor activity p.R337*(1) breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 51 Medulloblastoma(109;0.109) GCATGCCCTCGAAAAATATTA 0.403000 24 27 0 0 0.00278032 0 0 RAB1A 5861 broad.mit.edu 37 2 65315800 65315800 + Missense_Mutation SNP G G A TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr2:65315800G>A ENST00000409784.3 - 6 635 c.445C>T c.(445-447)Ccg>Tcg p.P149S RAB1A_ENST00000356214.7_Missense_Mutation_p.P117S|RAB1A_ENST00000494188.1_Intron|RAB1A_ENST00000398529.3_Missense_Mutation_p.P73S|RAB1A_ENST00000260638.8_Missense_Mutation_p.P73S|RAB1A_ENST00000409751.1_Missense_Mutation_p.P117S|RAB1A_ENST00000409892.1_Missense_Mutation_p.P85S NM_004161.4 NP_004152.1 P62820 RAB1A_HUMAN RAB1A, member RAS oncogene family 149 protein transport|small GTPase mediated signal transduction|vesicle-mediated transport endoplasmic reticulum|Golgi apparatus GTP binding|GTPase activity endometrium(1)|kidney(1)|lung(3)|prostate(1) 6 TCCAAAAACGGAATTCCAAGG 0.393000 5 10 0 0 0.000602214 0 0 PROL1 58503 broad.mit.edu 37 4 71275483 71275483 + Silent SNP C C T TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr4:71275483C>T ENST00000399575.2 + 3 612 c.438C>T c.(436-438)atC>atT p.I146I PROL1_ENST00000514338.1_3'UTR NM_021225.4 NP_067048.4 Q99935 PROL1_HUMAN proline rich, lacrimal 1 146 regulation of sensory perception of pain extracellular region endopeptidase inhibitor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3) 15 all_hematologic(202;0.196) AAATAAACATCACCACCGCAG 0.448000 17 42 0 0 0.000566183 0 0 USP44 84101 broad.mit.edu 37 12 95914926 95914926 + Missense_Mutation SNP C C T TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr12:95914926C>T ENST00000258499.3 - 5 2074 c.1786G>A c.(1786-1788)Gaa>Aaa p.E596K USP44_ENST00000552440.1_Intron|USP44_ENST00000393091.2_Missense_Mutation_p.E596K|USP44_ENST00000537435.2_Missense_Mutation_p.E596K NM_001278393.1|NM_032147.2 NP_001265322.1|NP_115523.2 Q9H0E7 UBP44_HUMAN ubiquitin specific peptidase 44 596 anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 36 TTTAAGATTTCCTCAAAGCCA 0.443000 54 65 0 0 0.000781405 0 0 HRG 3273 broad.mit.edu 37 3 186390628 186390628 + Missense_Mutation SNP C C T TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr3:186390628C>T ENST00000232003.4 + 5 691 c.611C>T c.(610-612)cCc>cTc p.P204L NM_000412.2 NP_000403.1 P04196 HRG_HUMAN histidine-rich glycoprotein 204 Cystatin 2. P -> S (in dbSNP:rs9898). fibrinolysis|platelet activation|platelet degranulation extracellular region|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0683) CGGAACTGCCCCAGACACCAT 0.443000 30 20 0 0 0.00283554 0 0 CDH20 28316 broad.mit.edu 37 18 59212366 59212366 + Missense_Mutation SNP G G A TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr18:59212366G>A ENST00000262717.4 + 10 2035 c.1637G>A c.(1636-1638)aGg>aAg p.R546K CDH20_ENST00000538374.1_Missense_Mutation_p.R546K|CDH20_ENST00000536675.2_Missense_Mutation_p.R546K Q9HBT6 CAD20_HUMAN cadherin 20, type 2 546 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3) 61 Colorectal(73;0.186) TTTACCATAAGGGACAACCAA 0.488000 32 73 0 0 0.00148497 0 0 ATRN 8455 broad.mit.edu 37 20 3578567 3578567 + Missense_Mutation SNP G G A TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr20:3578567G>A ENST00000262919.5 + 22 3552 c.3484G>A c.(3484-3486)Gac>Aac p.D1162N ATRN_ENST00000446916.2_Missense_Mutation_p.D1162N NM_139321.2 NP_647537.1 O75882 ATRN_HUMAN attractin 1162 inflammatory response extracellular space|integral to plasma membrane receptor activity|sugar binding breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 59 TCTTCTTATTGACTATCAGTT 0.333000 74 111 0 0 0.000781405 0 0 WNT1 7471 broad.mit.edu 37 12 49375301 49375301 + Missense_Mutation SNP G G A TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr12:49375301G>A ENST00000293549.3 + 4 1027 c.991G>A c.(991-993)Ggc>Agc p.G331S NM_005430.3 NP_005421.1 P04628 WNT1_HUMAN wingless-type MMTV integration site family, member 1 331 brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of DNA damage checkpoint|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of Notch signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to wounding|signal transduction in response to DNA damage|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix cytokine activity|frizzled-2 binding|transcription regulatory region DNA binding endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1) 11 BRCA - Breast invasive adenocarcinoma(357;0.244) GCTCTGCTGCGGCAGGGGCCA 0.711000 2 0 0 0 6.4e-05 0 0 ACE 1636 broad.mit.edu 37 17 61568584 61568584 + Silent SNP G G A rs145809210 byFrequency TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr17:61568584G>A ENST00000577647.1 + 8 1077 c.1032G>A c.(1030-1032)agG>agA p.R344R ACE_ENST00000413513.3_Silent_p.R344R|ACE_ENST00000290863.6_Silent_p.R344R|ACE_ENST00000290866.4_Silent_p.R918R|ACE_ENST00000421982.2_Silent_p.R164R|ACE_ENST00000490216.2_Silent_p.R344R|ACE_ENST00000428043.1_Silent_p.R918R P12821 ACE_HUMAN angiotensin I converting enzyme 918 Peptidase M2 1. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) GGACGCCCAGGAGGATGTTTA 0.617000 7 8 0 0 0.000157383 0 0 C2CD3 26005 broad.mit.edu 37 11 73748584 73748584 + Silent SNP C C A TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr11:73748584C>A ENST00000334126.7 - 30 6046 c.5820G>T c.(5818-5820)ggG>ggT p.G1940G C2CD3_ENST00000313663.7_Silent_p.G1940G Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 1940 centrosome p.G1940G(2) NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3) 64 Breast(11;4.16e-06) TACACTGGCTCCCAGGGTCTA 0.527000 66 103 7.75977e-34 1.60664e-32 0.000781405 1 0 STAT4 6775 broad.mit.edu 37 2 191894583 191894583 + Missense_Mutation SNP G G A TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr2:191894583G>A ENST00000392320.2 - 24 2544 c.2230C>T c.(2230-2232)Cct>Tct p.P744S AC067945.4_ENST00000456176.1_RNA|STAT4_ENST00000358470.4_Missense_Mutation_p.P744S NM_003151.3 NP_003142.1 Q14765 STAT4_HUMAN signal transducer and activator of transcription 4 744 JAK-STAT cascade cytoplasm|nucleus calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204) GCAGAATAAGGAGACTTCATC 0.323000 52 127 0 0 0.000781405 0 0 OSTCP1 202459 broad.mit.edu 37 6 159262893 159262893 + RNA SNP G G A TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr6:159262893G>A ENST00000522287.1 - 0 450 NR_028496.1 CATCGGTCCAGGAATATGAAA 0.393000 34 64 0 0 0.000692331 0 0 DENND5B 160518 broad.mit.edu 37 12 31577540 31577540 + Missense_Mutation SNP C C T TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr12:31577540C>T ENST00000389082.5 - 10 2584 c.2320G>A c.(2320-2322)Gag>Aag p.E774K DENND5B_ENST00000536562.1_Missense_Mutation_p.E809K|DENND5B_ENST00000306833.6_Missense_Mutation_p.E809K NM_144973.3 NP_659410.3 Q6ZUT9 DEN5B_HUMAN DENN/MADD domain containing 5B 774 RUN 1. integral to membrane NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 AAGGTGTTCTCCTCCAGGCCG 0.517000 61 88 0 0 0.000781405 0 0 MYOF 26509 broad.mit.edu 37 10 95161230 95161230 + Silent SNP G G A TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr10:95161230G>A ENST00000371501.4 - 12 1184 c.1062C>T c.(1060-1062)gcC>gcT p.A354A MYOF_ENST00000359263.4_Silent_p.A354A|MYOF_ENST00000358334.5_Silent_p.A354A|MYOF_ENST00000371502.4_Silent_p.A354A|MYOF_ENST00000371489.1_Silent_p.A354A Q9NZM1 MYOF_HUMAN myoferlin 354 C2 3. blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 CCCACCGGAGGGCAATGCCAG 0.448000 30 14 0 0 0.001512 0 0 P4HA3 283208 broad.mit.edu 37 11 74015355 74015355 + Silent SNP C C T TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr11:74015355C>T ENST00000331597.4 - 2 348 c.303G>A c.(301-303)agG>agA p.R101R P4HA3_ENST00000427714.2_Silent_p.R101R NM_182904.3 NP_878907.1 Q7Z4N8 P4HA3_HUMAN prolyl 4-hydroxylase, alpha polypeptide III 101 endoplasmic reticulum lumen iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1) 15 Breast(11;2.31e-05) GTACCACATTCCTCCAGTCAG 0.493000 110 164 0 0 0.000781405 0 0 TENM4 26011 broad.mit.edu 37 11 78372617 78372617 + Silent SNP G G A TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr11:78372617G>A ENST00000278550.7 - 33 7890 c.7428C>T c.(7426-7428)ctC>ctT p.L2476L NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 ATCCAAAGGTGAGCAGCCAGC 0.507000 10 16 0 0 0.00185496 0 0 PDE4A 5141 broad.mit.edu 37 19 10574558 10574558 + Silent SNP C C T TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr19:10574558C>T ENST00000380702.2 + 15 1767 c.1767C>T c.(1765-1767)gcC>gcT p.A589A PDE4A_ENST00000440014.2_Silent_p.A550A|PDE4A_ENST00000293683.5_Silent_p.A585A|PDE4A_ENST00000592685.1_Silent_p.A589A|PDE4A_ENST00000344979.3_Silent_p.A372A|PDE4A_ENST00000352831.6_Silent_p.A611A P27815 PDE4A_HUMAN phosphodiesterase 4A, cAMP-specific 611 Catalytic. signal transduction cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06) Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277) GCATCATGGCCGAGTTCTTCC 0.617000 20 31 0 0 0.00152264 0 0 ZNF280C 55609 broad.mit.edu 37 X 129370208 129370208 + Missense_Mutation SNP G G A TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chrX:129370208G>A ENST00000370978.4 - 8 904 c.751C>T c.(751-753)Cct>Tct p.P251S NM_017666.4 NP_060136.1 Q8ND82 Z280C_HUMAN zinc finger protein 280C 251 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 26 TATTTCAAAGGATCCAAAAGA 0.299000 30 101 0 0 0.00058488 0 0 OR51V1 283111 broad.mit.edu 37 11 5221880 5221880 + Silent SNP C C T TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr11:5221880C>T ENST00000321255.1 - 1 50 c.51G>A c.(49-51)acG>acA p.T17T NM_001004760.2 NP_001004760.2 Q9H2C8 O51V1_HUMAN olfactory receptor, family 51, subfamily V, member 1 17 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T17T(1) endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGGAAGAATTCGTGCTGGTGC 0.428000 17 63 0 0 0.000422831 0 0 ZNF681 148213 broad.mit.edu 37 19 23927190 23927190 + Missense_Mutation SNP G G A TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr19:23927190G>A ENST00000402377.3 - 4 1303 c.1162C>T c.(1162-1164)Cat>Tat p.H388Y ZNF681_ENST00000395385.3_Missense_Mutation_p.H319Y NM_138286.2 NP_612143.2 Q96N22 ZN681_HUMAN zinc finger protein 681 388 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3) 21 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) TCTCCAGTATGAATTATCTTA 0.398000 15 27 0 0 0.000308642 0 0 SLC22A10 387775 broad.mit.edu 37 11 63072194 63072194 + Silent SNP G G A TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr11:63072194G>A ENST00000332793.6 + 9 1433 c.1431G>A c.(1429-1431)agG>agA p.R477R SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000544661.1_3'UTR NM_001039752.3 NP_001034841.3 Q63ZE4 S22AA_HUMAN solute carrier family 22, member 10 477 integral to membrane transmembrane transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 CGGCTAGTAGGATTGGAGCAG 0.383000 41 67 0 0 0.000781405 0 0 ALPK2 115701 broad.mit.edu 37 18 56204264 56204264 + Missense_Mutation SNP G G A TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr18:56204264G>A ENST00000361673.3 - 5 3368 c.3155C>T c.(3154-3156)cCt>cTt p.P1052L RP11-1151B14.4_ENST00000591360.1_RNA NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 1052 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 CACTTGGGAAGGAAATTGGGA 0.493000 27 55 0 0 0.00106085 0 0 ANKRD30BP2 149992 broad.mit.edu 37 21 14414855 14414855 + RNA SNP A A G rs141732548 by1000genomes TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr21:14414855A>G ENST00000507941.1 + 0 95 GCCAATGGCCATGCAGAAGTA 0.448000 4 51 0 0 0.00116845 0 0 UMOD 7369 broad.mit.edu 37 16 20360463 20360463 + Missense_Mutation SNP C C T TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr16:20360463C>T ENST00000396134.2 - 4 382 c.259G>A c.(259-261)Gag>Aag p.E87K UMOD_ENST00000570689.1_Missense_Mutation_p.E54K|UMOD_ENST00000424589.1_Missense_Mutation_p.E87K|UMOD_ENST00000396138.4_Missense_Mutation_p.E103K|UMOD_ENST00000302509.4_Missense_Mutation_p.E54K|UMOD_ENST00000396142.2_Missense_Mutation_p.E54K NM_001278614.1 NP_001265543.1 P07911 UROM_HUMAN uromodulin 54 EGF-like 2; calcium-binding (Potential). cellular defense response|negative regulation of cell proliferation anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole calcium ion binding endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 GTGAAGCCCTCCTGACAGGTG 0.602000 10 8 0 0 0.000978159 0 0 PDE4A 5141 broad.mit.edu 37 19 10574557 10574557 + Missense_Mutation SNP C C T TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr19:10574557C>T ENST00000380702.2 + 15 1766 c.1766C>T c.(1765-1767)gCc>gTc p.A589V PDE4A_ENST00000440014.2_Missense_Mutation_p.A550V|PDE4A_ENST00000293683.5_Missense_Mutation_p.A585V|PDE4A_ENST00000592685.1_Missense_Mutation_p.A589V|PDE4A_ENST00000344979.3_Missense_Mutation_p.A372V|PDE4A_ENST00000352831.6_Missense_Mutation_p.A611V P27815 PDE4A_HUMAN phosphodiesterase 4A, cAMP-specific 611 Catalytic. signal transduction cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06) Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277) CGCATCATGGCCGAGTTCTTC 0.612000 20 32 0 0 0.00188189 0 0 DNAH5 1767 broad.mit.edu 37 5 13716799 13716799 + Splice_Site SNP C C T TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr5:13716799C>T ENST00000265104.4 - 74 12810 c.12705_splice c.e74-1 p.G4236_splice NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4236 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CAGGAGACACCCTGGGAAATT 0.398000 Kartagener syndrome 22 17 0 0 0.000586117 0 0 ZNF557 79230 broad.mit.edu 37 19 7083402 7083402 + Missense_Mutation SNP C C T TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr19:7083402C>T ENST00000414706.1 + 8 1413 c.940C>T c.(940-942)Cat>Tat p.H314Y ZNF557_ENST00000252840.6_Missense_Mutation_p.H314Y|ZNF557_ENST00000439035.2_Missense_Mutation_p.H307Y NM_001044387.1|NM_001044388.1|NM_024341.2 NP_001037852.1|NP_001037853.1|NP_077317.2 Q8N988 ZN557_HUMAN zinc finger protein 557 307 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 17 Lung(535;0.179) CTATAGCATTCATACAGGGGA 0.473000 47 90 0 0 0.000781405 0 0 ZSCAN30 100101467 broad.mit.edu 37 18 32834207 32834207 + Missense_Mutation SNP C C T TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr18:32834207C>T ENST00000420878.3 - 5 1147 c.692G>A c.(691-693)gGt>gAt p.G231D ZNF397_ENST00000592264.1_Intron|ZNF397_ENST00000589420.1_3'UTR|ZSCAN30_ENST00000333206.5_Missense_Mutation_p.G231D|ZNF397_ENST00000261333.6_Missense_Mutation_p.P220S|ZNF397_ENST00000355632.4_Missense_Mutation_p.P190S NM_001166012.1 NP_001159484.1 Q86W11 ZSC30_HUMAN zinc finger and SCAN domain containing 30 231 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(5)|lung(3)|urinary_tract(1) 9 GTTGTCCAGACCTCCCAAAGC 0.463000 47 86 0 0 0.000781405 0 0 SLC22A7 10864 broad.mit.edu 37 6 43270055 43270055 + Silent SNP C C T TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr6:43270055C>T ENST00000372585.5 + 8 1274 c.1179C>T c.(1177-1179)gtC>gtT p.V393V SLC22A7_ENST00000372589.3_Silent_p.V391V|SLC22A7_ENST00000372574.3_Silent_p.V391V NM_153320.2 NP_696961.2 Q9Y694 S22A7_HUMAN solute carrier family 22 (organic anion transporter), member 7 393 basolateral plasma membrane|integral to plasma membrane|membrane fraction anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3) 26 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305) AGCTGCTGGTCTACTTGTCGG 0.632000 8 10 0 0 0.000274275 0 0 DNASE2B 58511 broad.mit.edu 37 1 84864322 84864322 + Frame_Shift_Del DEL G G - TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr1:84864322delG ENST00000370665.3 + 1 108 c.75delG c.(73-75)ctfs p.L25fs NM_021233.2 NP_067056.2 Q8WZ79 DNS2B_HUMAN deoxyribonuclease II beta 25 DNA metabolic process lysosome deoxyribonuclease II activity endometrium(1)|lung(4)|skin(1) 6 all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808) TTGGGGTGCTGGGGGCAGCAA 0.463 7 3535 --- --- --- --- WDR63 126820 broad.mit.edu 37 1 85547084 85547084 + Frame_Shift_Del DEL A A - TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr1:85547084delA ENST00000294664.6 + 4 451 c.271delA c.(271-273)aafs p.K92fs WDR63_ENST00000370596.1_Frame_Shift_Del_p.K92fs|WDR63_ENST00000326813.8_Frame_Shift_Del_p.K92fs NM_145172.3 NP_660155.2 Q8IWG1 WDR63_HUMAN WD repeat domain 63 92 NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3) 36 all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166) CCACCCAGTCAAAAAAATTGT 0.383 8 1386 --- --- --- --- VPS8 23355 broad.mit.edu 37 3 184573590 184573593 + Frame_Shift_Del DEL TTGT TTGT - TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr3:184573590_184573593delTTGT ENST00000287546.4 + 13 1298_1301 c.1127_1130delTTGT c.(1126-1131)gtfs p.VV376fs VPS8_ENST00000446204.2_Frame_Shift_Del_p.VV374fs|VPS8_ENST00000437079.3_Frame_Shift_Del_p.VV376fs|VPS8_ENST00000436792.2_Frame_Shift_Del_p.VV374fs NM_015303.3 NP_056118.2 Q8N3P4 VPS8_HUMAN vacuolar protein sorting 8 homolog (S. cerevisiae) 376 zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22) AGAGGAGATGTTGTTCATTTTCTA 0.387 60 65 --- --- --- --- INTS4P2 644619 broad.mit.edu 37 7 65150824 65150825 + RNA INS - - G TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr7:65150824_65150825insG ENST00000430126.2 + 0 757 TCACCCCCCCCCCCGTTAAAAT 0.470 3 6 --- --- --- --- NOX4 50507 broad.mit.edu 37 11 89106662 89106663 + Splice_Site INS - - A rs56022003 TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr11:89106662_89106663insA ENST00000535633.1 - 12 1313 c.e12-2 NOX4_ENST00000525196.1_Intron|NOX4_ENST00000531342.1_Splice_Site|NOX4_ENST00000413594.2_Splice_Site|NOX4_ENST00000542487.1_Splice_Site|NOX4_ENST00000527626.1_Splice_Site|NOX4_ENST00000527956.1_Splice_Site|NOX4_ENST00000534731.1_Splice_Site|NOX4_ENST00000343727.5_Splice_Site|NOX4_ENST00000263317.4_Splice_Site|NOX4_ENST00000532825.1_Splice_Site|NOX4_ENST00000424319.1_Splice_Site|NOX4_ENST00000528341.1_Splice_Site|NOX4_ENST00000375979.3_Splice_Site NM_001143836.1|NM_016931.3 NP_001137308.1|NP_058627.1 Q9NPH5 NOX4_HUMAN NADPH oxidase 4 cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity p.?(1) NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2) 44 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011) AGTTGGACACTAAAAAAAAATA 0.292 8 200 --- --- --- --- SNHG14 104472715 broad.mit.edu 37 15 25227366 25227367 + RNA INS - - T TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr15:25227366_25227367insT ENST00000551631.2 + 0 669_670 SNHG14_ENST00000551361.1_RNA NR_001293.1 TTCTGAGTTCCTTTTTTTTTCT 0.356 2 4 --- --- --- --- ZNF668 79759 broad.mit.edu 37 16 31073072 31073072 + Frame_Shift_Del DEL G G - TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr16:31073072delG ENST00000538906.1 - 3 1961 c.1177delC c.(1177-1179)acfs p.H393fs ZNF668_ENST00000300849.4_Frame_Shift_Del_p.H393fs|ZNF668_ENST00000394983.2_Frame_Shift_Del_p.H393fs|ZNF668_ENST00000426488.2_Frame_Shift_Del_p.H416fs|ZNF668_ENST00000535577.1_Frame_Shift_Del_p.H393fs|ZNF668_ENST00000539836.3_Frame_Shift_Del_p.H416fs|ZNF668_ENST00000417110.2_Frame_Shift_Del_p.W87fs NM_001172668.1 NP_001166139.1 Q96K58 ZN668_HUMAN zinc finger protein 668 393 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 27 GCGTTACAGTGGAAGGGGCGC 0.667 61 136 --- --- --- --- MYPOP 339344 broad.mit.edu 37 19 46404647 46404647 + Frame_Shift_Del DEL C C - TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr19:46404647delC ENST00000322217.5 - 2 471 c.385delG c.(385-387)cafs p.A129fs NM_001012643.2 NP_001012661.1 Q86VE0 MYPOP_HUMAN Myb-related transcription factor, partner of profilin 129 nucleus DNA binding large_intestine(2)|lung(1)|skin(1) 4 CCAGCACCTGCCCCCGGCGCC 0.736 2 4 --- --- --- --- TNRC6B 23112 broad.mit.edu 37 22 40674020 40674020 + Frame_Shift_Del DEL T T - TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9162ca00-4a41-4aa7-b09d-ee52dc6519ea 25855d9c-e92f-4ffd-a399-3c716fdf7b3c g.chr22:40674020delT ENST00000454349.2 + 9 3445 c.3234delT c.(3232-3234)aafs p.N1078fs TNRC6B_ENST00000402203.1_Frame_Shift_Del_p.N331fs|TNRC6B_ENST00000335727.8_Frame_Shift_Del_p.N1025fs|TNRC6B_ENST00000497559.1_3'UTR|TNRC6B_ENST00000301923.9_Frame_Shift_Del_p.N331fs NM_001162501.1 NP_001155973.1 Q9UPQ9 TNR6B_HUMAN trinucleotide repeat containing 6B 1078 gene silencing by RNA|regulation of translation cytoplasmic mRNA processing body nucleotide binding|RNA binding breast(1) 1 CTGAAGATAATCCAAGCAGCA 0.408 2 4 --- --- --- ---