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 UBC 7316 broad.mit.edu 37 12 125397183 125397183 + Missense_Mutation SNP C C A TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr12:125397183C>A ENST00000536769.1 - 1 2711 c.1135G>T c.(1135-1137)Ggt>Tgt p.G379C UBC_ENST00000538617.1_Intron|UBC_ENST00000546120.1_Missense_Mutation_p.G303C|UBC_ENST00000339647.5_Missense_Mutation_p.G379C P0CG48 UBC_HUMAN ubiquitin C 379 Ubiquitin-like 5. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|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 ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) TGCATCCCACCTCTGAGACGG 0.517000 4 274 0.014758 0.0149296 1 1 0 FERMT1 55612 broad.mit.edu 37 20 6068460 6068460 + Silent SNP G G A TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr20:6068460G>A ENST00000217289.4 - 11 2123 c.1335C>T c.(1333-1335)gcC>gcT p.A445A FERMT1_ENST00000536936.1_Silent_p.A188A|FERMT1_ENST00000478194.1_5'UTR NM_017671.4 NP_060141.3 Q9BQL6 FERM1_HUMAN fermitin family member 1 445 FERM.|PH. cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation cytosol|focal adhesion|ruffle membrane binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2) 17 TCATACCATCGGCAACAGGGA 0.398000 20 81 0 0 1 0 0 PPFIBP1 8496 broad.mit.edu 37 12 27841316 27841316 + Missense_Mutation SNP C C T TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr12:27841316C>T ENST00000318304.8 + 25 2757 c.2474C>T c.(2473-2475)gCg>gTg p.A825V PPFIBP1_ENST00000537927.1_Missense_Mutation_p.A672V|PPFIBP1_ENST00000542629.1_Missense_Mutation_p.A794V|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.A819V NM_001198916.1|NM_177444.2 NP_001185845.1|NP_803193 Q86W92 LIPB1_HUMAN PTPRF interacting protein, binding protein 1 (liprin beta 1) 825 SAM 3. cell adhesion plasma membrane protein binding PPFIBP1/ALK(3) central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1) 32 Lung SC(9;0.0873) GCAGAATATGCGCCCAATCTC 0.473000 4 255 0 0 1 0 0 ZMAT4 79698 broad.mit.edu 37 8 40532241 40532241 + Missense_Mutation SNP C C G TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr8:40532241C>G ENST00000297737.6 - 5 705 c.559G>C c.(559-561)Gat>Cat p.D187H ZMAT4_ENST00000315769.7_Intron NM_024645.2 NP_078921.1 Q9H898 ZMAT4_HUMAN zinc finger, matrin-type 4 187 nucleus DNA binding|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 18 Ovarian(28;0.00724)|Colorectal(14;0.0468) all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152) LUSC - Lung squamous cell carcinoma(45;0.00722) TCCCCCATATCCAGGGTTGTC 0.453000 21 125 0 0 1 0 0 UBAP1 51271 broad.mit.edu 37 9 34241585 34241585 + Missense_Mutation SNP A A G TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr9:34241585A>G ENST00000536252.1 + 5 960 c.562A>G c.(562-564)Act>Gct p.T188A UBAP1_ENST00000543944.1_Missense_Mutation_p.T224A|UBAP1_ENST00000297661.4_Missense_Mutation_p.T188A|UBAP1_ENST00000359544.2_Missense_Mutation_p.T188A|UBAP1_ENST00000379186.4_Missense_Mutation_p.T188A|UBAP1_ENST00000545103.1_Missense_Mutation_p.T252A|UBAP1_ENST00000540348.1_Missense_Mutation_p.T188A NM_001171203.2 NP_001164674.1 Q9NZ09 UBAP1_HUMAN ubiquitin associated protein 1 188 cytoplasm endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1) 13 LUSC - Lung squamous cell carcinoma(29;0.00272) GGTAGGAACCACTGGACCCAT 0.463000 15 34 0 0 1 0 0 DSCAML1 57453 broad.mit.edu 37 11 117667836 117667836 + Missense_Mutation SNP C C T TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr11:117667836C>T ENST00000321322.6 - 1 140 c.139G>A c.(139-141)Gcc>Acc p.A47T NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 0 Ig-like C2-type 1. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) GGTCCTGTGGCCGGCCGTGCG 0.682000 4 11 0 0 1 0 0 BAIAP2L1 55971 broad.mit.edu 37 7 97944836 97944836 + Missense_Mutation SNP C C T TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr7:97944836C>T ENST00000005260.8 - 7 790 c.575G>A c.(574-576)cGc>cAc p.R192H BAIAP2L1_ENST00000462558.1_5'UTR NM_018842.4 NP_061330.2 Q9UHR4 BI2L1_HUMAN BAI1-associated protein 2-like 1 192 IMD. filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction cell junction|cytoskeleton|cytosol|nucleus actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1) 23 all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126) STAD - Stomach adenocarcinoma(171;0.215) AAAGCAGAAGCGCCTCTTCTC 0.418000 56 154 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 133880458 133880458 + Missense_Mutation SNP G G A TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr8:133880458G>A ENST00000220616.4 + 2 206 c.166G>A c.(166-168)Ggc>Agc p.G56S TG_ENST00000377869.1_Missense_Mutation_p.G56S NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 56 Thyroglobulin type-1 1. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) TGCAGAGGATGGCAGCTTCCA 0.562000 3 34 0 0 1 0 0 MYBBP1A 10514 broad.mit.edu 37 17 4453489 4453489 + Missense_Mutation SNP C C T TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr17:4453489C>T ENST00000254718.4 - 9 1489 c.1183G>A c.(1183-1185)Gtg>Atg p.V395M MYBBP1A_ENST00000381556.2_Missense_Mutation_p.V395M Q9BQG0 MBB1A_HUMAN MYB binding protein (P160) 1a 395 Interaction with MYB (By similarity). nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NLS-dependent protein nuclear import complex|nucleolus DNA binding|DNA-directed DNA polymerase activity|transcription factor binding p.V395L(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1) 24 AGGAACCGCACGACCCGCCAG 0.637000 12 69 0 0 1 0 0 C11orf71 54494 broad.mit.edu 37 11 114270864 114270864 + Missense_Mutation SNP C C T TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr11:114270864C>T ENST00000325636.4 - 1 275 c.190G>A c.(190-192)Gag>Aag p.E64K RBM7_ENST00000540163.1_5'UTR NM_019021.3 NP_061894.2 Q6IPW1 CK071_HUMAN chromosome 11 open reading frame 71 64 large_intestine(3)|lung(1) 4 all_cancers(61;1.15e-11)|all_epithelial(67;5.3e-06)|all_hematologic(158;0.000303)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104) BRCA - Breast invasive adenocarcinoma(274;2.6e-06)|Epithelial(105;4.31e-05)|all cancers(92;0.00036) CGACGGCTCTCGGCCCGAACG 0.657000 6 35 0 0 1 0 0 RIMS4 140730 broad.mit.edu 37 20 43384864 43384864 + Missense_Mutation SNP T T C TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr20:43384864T>C ENST00000372851.3 - 6 787 c.721A>G c.(721-723)Atg>Gtg p.M241V RIMS4_ENST00000541604.2_Missense_Mutation_p.M242V NM_001205317.1|NM_182970.3 NP_001192246.1|NP_892015.1 Q9H426 RIMS4_HUMAN regulating synaptic membrane exocytosis 4 241 exocytosis|neurotransmitter transport cell junction|synapse central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1) 29 Myeloproliferative disorder(115;0.0122) GGGTCCACCATGGAGGAGGTG 0.652000 16 65 0 0 1 0 0 WEE1 7465 broad.mit.edu 37 11 9606861 9606861 + Missense_Mutation SNP G G A TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr11:9606861G>A ENST00000299613.6 + 7 1458 c.703G>A c.(703-705)Gaa>Aaa p.E235K WEE1_ENST00000450114.2_Missense_Mutation_p.E449K NM_001143976.1 NP_001137448.1 P30291 WEE1_HUMAN WEE1 G2 checkpoint kinase 449 blood coagulation|cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|S phase of mitotic cell cycle nucleoplasm ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 23 all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484) AGAAGGAGACGAAGATGATTG 0.328000 9 54 0 0 1 0 0 ATP8B3 148229 broad.mit.edu 37 19 1784821 1784821 + Silent SNP G G A TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr19:1784821G>A ENST00000539485.1 - 28 3920 c.3687C>T c.(3685-3687)gcC>gcT p.A1229A ATP8B3_ENST00000525591.1_Silent_p.A1182A|ATP8B3_ENST00000310127.6_Silent_p.A1219A O60423 AT8B3_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 3 1219 ATP biosynthetic process ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 23 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ACCTCACCTTGGCACGTAGCT 0.637000 3 11 0 0 1 0 0 XAB2 56949 broad.mit.edu 37 19 7685538 7685538 + Silent SNP G G A TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr19:7685538G>A ENST00000358368.4 - 15 2026 c.1989C>T c.(1987-1989)caC>caT p.H663H XAB2_ENST00000534844.1_Silent_p.H660H NM_020196.2 NP_064581.2 Q9HCS7 SYF1_HUMAN XPA binding protein 2 663 transcription, DNA-dependent|transcription-coupled nucleotide-excision repair catalytic step 2 spliceosome|nucleoplasm protein binding breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 26 TCTCACGCGCGTGCTCGTCCG 0.657000 Direct reversal of damage;Nucleotide excision repair (NER) 3 40 0 0 1 0 0 CCDC178 374864 broad.mit.edu 37 18 30969585 30969585 + Missense_Mutation SNP T T G TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr18:30969585T>G ENST00000383096.3 - 5 309 c.127A>C c.(127-129)Atg>Ctg p.M43L CCDC178_ENST00000579947.1_Missense_Mutation_p.M43L|CCDC178_ENST00000403303.1_Missense_Mutation_p.M43L|CCDC178_ENST00000300227.8_Missense_Mutation_p.M43L|CCDC178_ENST00000579916.1_Missense_Mutation_p.M43L|CCDC178_ENST00000406524.2_Missense_Mutation_p.M43L|CCDC178_ENST00000402325.1_Missense_Mutation_p.M43L|CCDC178_ENST00000583930.1_Missense_Mutation_p.M43L coiled-coil domain containing 178 CTTTGAGACATGGCATTGCCT 0.303000 4 58 0 0 1 0 0 MID1 4281 broad.mit.edu 37 X 10535278 10535278 + Missense_Mutation SNP G G A TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chrX:10535278G>A ENST00000317552.4 - 2 710 c.310C>T c.(310-312)Cgg>Tgg p.R104W MID1_ENST00000380785.1_Missense_Mutation_p.R104W|MID1_ENST00000380780.1_Missense_Mutation_p.R104W|MID1_ENST00000380782.2_Missense_Mutation_p.R104W|MID1_ENST00000380787.1_Missense_Mutation_p.R104W|MID1_ENST00000380779.1_Missense_Mutation_p.R104W|MID1_ENST00000453318.2_Missense_Mutation_p.R104W NM_000381.3|NM_033289.1 NP_000372.1|NP_150631.1 O15344 TRI18_HUMAN midline 1 (Opitz/BBB syndrome) 104 microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade cytoplasm|microtubule|microtubule associated complex|spindle ligase activity|ubiquitin protein ligase binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 26 TCAAAGGCCCGCTCCCGACGG 0.597000 4 125 0 0 1 0 0 KIAA1024 23251 broad.mit.edu 37 15 79748964 79748964 + Missense_Mutation SNP C C T rs141472919 TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr15:79748964C>T ENST00000305428.3 + 2 550 c.475C>T c.(475-477)Cgg>Tgg p.R159W NM_015206.2 NP_056021.1 Q9UPX6 K1024_HUMAN KIAA1024 159 integral to membrane central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1) 49 GTCCAAGTGCCGGAAGATGGA 0.567000 3 44 0 0 1 0 0 MRPL1 65008 broad.mit.edu 37 4 78830443 78830443 + Missense_Mutation SNP A A C TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr4:78830443A>C ENST00000315567.8 + 7 1023 c.694A>C c.(694-696)Aaa>Caa p.K232Q MRPL1_ENST00000506674.1_3'UTR NM_020236.3 NP_064621.3 Q9BYD6 RM01_HUMAN mitochondrial ribosomal protein L1 232 RNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1) 17 TGACATCCCCAAAATGCTTGA 0.308000 10 75 0 0 1 0 0 BCAR1 9564 broad.mit.edu 37 16 75269625 75269625 + Missense_Mutation SNP C C T TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr16:75269625C>T ENST00000546196.1 - 5 2737 c.1085G>A c.(1084-1086)cGt>cAt p.R362H BCAR1_ENST00000535626.2_Missense_Mutation_p.R243H|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000420641.3_Missense_Mutation_p.R409H|BCAR1_ENST00000418647.3_Missense_Mutation_p.R437H|BCAR1_ENST00000538440.2_Missense_Mutation_p.R391H|BCAR1_ENST00000393422.2_Missense_Mutation_p.R409H|BCAR1_ENST00000542031.2_Missense_Mutation_p.R389H|BCAR1_ENST00000162330.5_Missense_Mutation_p.R391H|BCAR1_ENST00000393420.6_Missense_Mutation_p.R409H P56945 BCAR1_HUMAN breast cancer anti-estrogen resistance 1 391 Substrate for kinases (By similarity). actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway cytosol|focal adhesion|membrane fraction|ruffle protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2) 35 BRCA - Breast invasive adenocarcinoma(221;0.169) CACCCGTTCACGGGGCACATC 0.692000 7 15 0 0 1 0 0 PLXNA2 5362 broad.mit.edu 37 1 208234107 208234107 + Missense_Mutation SNP A A G TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr1:208234107A>G ENST00000367033.3 - 13 3419 c.2662T>C c.(2662-2664)Tcc>Ccc p.S888P NM_025179.3 NP_079455.3 O75051 PLXA2_HUMAN plexin A2 888 IPT/TIG 1. axon guidance integral to membrane|intracellular|plasma membrane NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3) 80 OV - Ovarian serous cystadenocarcinoma(81;0.199) GCGATCTCGGAGAAGTCCAGA 0.622000 3 41 0 0 1 0 0 NRG1 3084 broad.mit.edu 37 8 32617917 32617917 + Missense_Mutation SNP A A T TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr8:32617917A>T ENST00000338921.4 + 12 1802 c.1285A>T c.(1285-1287)Agt>Tgt p.S429C NRG1_ENST00000519301.1_Missense_Mutation_p.S371C|NRG1_ENST00000539990.1_Missense_Mutation_p.S264C|NRG1_ENST00000405005.3_Missense_Mutation_p.S421C|NRG1_ENST00000287845.5_Missense_Mutation_p.S392C|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000521670.1_Missense_Mutation_p.S421C|NRG1_ENST00000287842.3_Missense_Mutation_p.S418C|NRG1_ENST00000523079.1_Missense_Mutation_p.S418C|NRG1_ENST00000356819.4_Missense_Mutation_p.S426C Q02297 NRG1_HUMAN neuregulin 1 421 activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1) 39 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) CTCTCCTCATAGTGAAAGGTA 0.512000 4 105 0 0 1 0 0 FAM188A 80013 broad.mit.edu 37 10 15883574 15883574 + Missense_Mutation SNP C C T TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr10:15883574C>T ENST00000277632.3 - 4 480 c.260G>A c.(259-261)tGt>tAt p.C87Y FAM188A_ENST00000477891.1_5'UTR NM_024948.2 NP_079224.1 Q9H8M7 F188A_HUMAN family with sequence similarity 188, member A 87 apoptosis nucleus calcium ion binding breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2) 22 CAAGGTATGACAAAGGAGTTC 0.353000 3 44 0 0 1 0 0 SYTL2 54843 broad.mit.edu 37 11 85422191 85422191 + Missense_Mutation SNP G G A TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr11:85422191G>A ENST00000359152.5 - 5 4332 c.4333C>T c.(4333-4335)Ctt>Ttt p.L1445F SYTL2_ENST00000389958.3_Missense_Mutation_p.L30F|SYTL2_ENST00000525423.1_Missense_Mutation_p.L921F|SYTL2_ENST00000525702.1_Missense_Mutation_p.L41F|SYTL2_ENST00000527523.1_Missense_Mutation_p.L567F|SYTL2_ENST00000529581.1_Missense_Mutation_p.L41F|SYTL2_ENST00000528231.1_Missense_Mutation_p.L599F|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000316356.4_Missense_Mutation_p.L600F|SYTL2_ENST00000354566.3_Missense_Mutation_p.L937F|SYTL2_ENST00000533892.1_Intron|SYTL2_ENST00000389960.4_Intron NM_206928.2 NP_996811.1 Q9HCH5 SYTL2_HUMAN synaptotagmin-like 2 599 intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) GAGCTGCTAAGATTGGTTAAA 0.448000 13 120 0 0 1 0 0 VCAN 1462 broad.mit.edu 37 5 82817330 82817330 + Missense_Mutation SNP G G A TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr5:82817330G>A ENST00000265077.3 + 7 3770 c.3205G>A c.(3205-3207)Gat>Aat p.D1069N VCAN_ENST00000512590.2_Missense_Mutation_p.D1021N|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.D1069N NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 1069 GAG-alpha (glucosaminoglycan attachment domain). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) ACAAGAGGGCGATGGATCAGC 0.463000 11 52 0 0 1 0 0 AMZ2P1 201283 broad.mit.edu 37 17 62968690 62968690 + RNA SNP A A G rs138671696 by1000genomes TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr17:62968690A>G ENST00000430983.1 - 0 1554 NR_026903.1 AAAATTCCACAAGTCTCTTGG 0.373000 3 82 0 0 1 0 0 ATAD2 29028 broad.mit.edu 37 8 124381391 124381391 + Missense_Mutation SNP T T C TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr8:124381391T>C ENST00000287394.5 - 8 1063 c.956A>G c.(955-957)aAc>aGc p.N319S ATAD2_ENST00000534257.1_5'UTR|ATAD2_ENST00000521903.1_5'UTR NM_014109.3 NP_054828.2 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 319 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) ATAAAATATGTTGGGCTTTCT 0.333000 6 25 0 0 1 0 0 PCDHA1 56147 broad.mit.edu 37 5 140167909 140167909 + Silent SNP G G A TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr5:140167909G>A ENST00000504120.2 + 1 2034 c.2034G>A c.(2032-2034)gcG>gcA p.A678A PCDHA1_ENST00000378133.3_Silent_p.A678A|PCDHA1_ENST00000394633.3_Intron NM_018900.2 NP_061723.1 p.A678A(2) breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3) 70 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCCAAAGGCGTCTTCGCGGG 0.662000 8 75 0 0 1 0 0 FILIP1 27145 broad.mit.edu 37 6 76022751 76022751 + Missense_Mutation SNP C C T TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr6:76022751C>T ENST00000393004.2 - 5 3018 c.2797G>A c.(2797-2799)Gaa>Aaa p.E933K FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.E834K|FILIP1_ENST00000237172.7_Missense_Mutation_p.E933K Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 933 breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4) 80 AAAAATTCTTCAGATGTCGGG 0.443000 11 81 0 0 1 0 0 BCLAF1 9774 broad.mit.edu 37 6 136594243 136594243 + Silent SNP C C T rs142595249 byFrequency TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr6:136594243C>T ENST00000531224.1 - 7 2187 c.1935G>A c.(1933-1935)cgG>cgA p.R645R BCLAF1_ENST00000527759.1_Silent_p.R643R|BCLAF1_ENST00000527536.1_Silent_p.R645R|BCLAF1_ENST00000530767.1_Silent_p.R472R|BCLAF1_ENST00000392348.2_Silent_p.R643R|BCLAF1_ENST00000353331.4_Silent_p.R643R NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 645 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) GGCTCTTTTGCCGAGTACTAT 0.393000 4 194 0 0 1 0 0 NLRP5 126206 broad.mit.edu 37 19 56538441 56538441 + Missense_Mutation SNP C C T rs45627733 byFrequency TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr19:56538441C>T ENST00000390649.3 + 7 842 c.842C>T c.(841-843)aCg>aTg p.T281M NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 281 NACHT. mitochondrion|nucleolus ATP binding p.T281M(1) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) CGGCCTCGCACGGTGGTTCTG 0.552000 2 2 0 0 1 0 0 CADM2 253559 broad.mit.edu 37 3 85932471 85932471 + Missense_Mutation SNP G G A TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr3:85932471G>A ENST00000383699.3 + 4 896 c.269G>A c.(268-270)cGc>cAc p.R90H CADM2_ENST00000407528.2_Missense_Mutation_p.R81H|CADM2_ENST00000405615.2_Missense_Mutation_p.R83H NM_001167675.1|NM_001256504.1|NM_001256505.1 NP_001161147.1|NP_001243433.1|NP_001243434.1 Q8N3J6 CADM2_HUMAN cell adhesion molecule 2 81 Ig-like V-type. adherens junction organization|cell junction assembly integral to membrane|plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4) 38 Lung NSC(201;0.0148) LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157) GAGCTGGTTCGCGCTTCCTGG 0.373000 18 60 0 0 1 0 0 ABCB4 5244 broad.mit.edu 37 7 87046671 87046671 + Missense_Mutation SNP C C T TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr7:87046671C>T ENST00000265723.4 - 21 2750 c.2639G>A c.(2638-2640)gGa>gAa p.G880E ABCB4_ENST00000453593.1_Missense_Mutation_p.G880E|ABCB4_ENST00000358400.3_Missense_Mutation_p.G880E|ABCB4_ENST00000545634.1_Missense_Mutation_p.G880E|ABCB4_ENST00000359206.3_Missense_Mutation_p.G880E NM_000443.3|NM_018849.2 NP_000434.1|NP_061337.1 P21439 MDR3_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 4 880 ABC transmembrane type-1 2. cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) TTTGGCATTTCCAGCCAACAA 0.343000 4 59 0 0 1 0 0 PCDHA1 56147 broad.mit.edu 37 5 140168077 140168077 + Silent SNP G G A TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr5:140168077G>A ENST00000504120.2 + 1 2202 c.2202G>A c.(2200-2202)ccG>ccA p.P734P PCDHA1_ENST00000378133.3_Silent_p.P734P|PCDHA1_ENST00000394633.3_Intron NM_018900.2 NP_061723.1 breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3) 70 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGTATGTGCCGGGCAAGCCCA 0.667000 3 50 0 0 1 0 0 CSNK2A1 1457 broad.mit.edu 37 20 476409 476409 + Missense_Mutation SNP C C G TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr20:476409C>G ENST00000217244.3 - 8 839 c.464G>C c.(463-465)aGa>aCa p.R155T CSNK2A1_ENST00000400227.3_Missense_Mutation_p.R155T|CSNK2A1_ENST00000349736.5_Missense_Mutation_p.R155T|CSNK2A1_ENST00000400217.2_Missense_Mutation_p.R19T NM_177559.2 NP_808227.1 P68400 CSK21_HUMAN casein kinase 2, alpha 1 polypeptide 155 Protein kinase. axon guidance|Wnt receptor signaling pathway cytosol|NuRD complex|plasma membrane|Sin3 complex ATP binding|protein N-terminus binding|protein serine/threonine kinase activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1) 17 Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.0969) CTTGACATCTCTGTGCATAAT 0.418000 20 83 0 0 1 0 0 DTWD2 285605 broad.mit.edu 37 5 118274979 118274979 + Missense_Mutation SNP T T C TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr5:118274979T>C ENST00000304058.4 - 3 188 c.118A>G c.(118-120)Aaa>Gaa p.K40E DTWD2_ENST00000515439.3_Intron|DTWD2_ENST00000510708.1_Missense_Mutation_p.K106E Q8NBA8 DTWD2_HUMAN DTW domain containing 2 106 breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4) 13 all_epithelial(76;0.0982)|Prostate(80;0.121) OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939) CGCAACACTTTGTTTTCCTTT 0.333000 9 53 0 0 1 0 0 ANKFN1 162282 broad.mit.edu 37 17 54428147 54428147 + Missense_Mutation SNP C C T rs141896298 byFrequency TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr17:54428147C>T ENST00000566473.2 + 4 218 c.218C>T c.(217-219)aCg>aTg p.T73M ANKFN1_ENST00000318698.2_Missense_Mutation_p.T73M Q8N957 ANKF1_HUMAN ankyrin-repeat and fibronectin type III domain containing 1 73 NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1) 53 GTGAAAATGACGCAACAAATG 0.388000 4 98 0 0 1 0 0 FAR1 84188 broad.mit.edu 37 11 13743295 13743295 + Silent SNP T T C TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr11:13743295T>C ENST00000532502.1 + 1 1846 c.18T>C c.(16-18)acT>acC p.T6T FAR1_ENST00000354817.3_Silent_p.T382T Q8WVX9 FACR1_HUMAN fatty acyl CoA reductase 1 382 ether lipid biosynthetic process integral to membrane|peroxisomal matrix|peroxisomal membrane protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1) 13 AAACAATAACTCGTCTTCACA 0.343000 11 31 0 0 1 0 0 ZNF560 147741 broad.mit.edu 37 19 9577542 9577542 + Missense_Mutation SNP C C T rs148650284 TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr19:9577542C>T ENST00000301480.4 - 10 2294 c.2081G>A c.(2080-2082)cGa>cAa p.R694Q NM_152476.2 NP_689689.2 Q96MR9 ZN560_HUMAN zinc finger protein 560 694 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R694Q(1) NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 65 CATGGAATTTCGAAAGGAATT 0.378000 9 131 0 0 1 0 0 DUSP13 51207 broad.mit.edu 37 10 76857615 76857615 + Missense_Mutation SNP G G A rs138543174 byFrequency TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr10:76857615G>A ENST00000491677.2 - 6 957 c.415C>T c.(415-417)Cgg>Tgg p.R139W DUSP13_ENST00000607131.1_Missense_Mutation_p.R103W|DUSP13_ENST00000607009.1_5'UTR|DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000478873.2_Missense_Mutation_p.R146W|DUSP13_ENST00000464872.1_Missense_Mutation_p.R10W|DUSP13_ENST00000472493.2_Missense_Mutation_p.R10W|DUSP13_ENST00000372700.3_Missense_Mutation_p.R60W|DUSP13_ENST00000605915.1_Missense_Mutation_p.R32W NM_001007271.1 NP_001007272.1 Q6B8I1 MDSP_HUMAN dual specificity phosphatase 13 0 Tyrosine-protein phosphatase. cytoplasm protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1) 8 all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348) TTGGGCCTCCGGAGGTCCTGC 0.642000 5 25 0 0 1 0 0 TTBK1 84630 broad.mit.edu 37 6 43250570 43250570 + Missense_Mutation SNP C C T TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr6:43250570C>T ENST00000259750.4 + 14 2175 c.2092C>T c.(2092-2094)Cgg>Tgg p.R698W NM_032538.1 NP_115927.1 Q5TCY1 TTBK1_HUMAN tau tubulin kinase 1 698 cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) TTACCGAGAACGGGCGCGGTT 0.622000 23 66 0 0 1 0 0 CTSL 1514 broad.mit.edu 37 9 90345407 90345407 + Missense_Mutation SNP A A G TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr9:90345407A>G ENST00000343150.5 + 7 1786 c.896A>G c.(895-897)aAg>aGg p.K299R CTSL_ENST00000495822.1_3'UTR|CTSL_ENST00000340342.6_Missense_Mutation_p.K299R cathepsin L TGGCTGGTGAAGAACAGGTAT 0.393000 18 23 0 0 1 0 0 VWA3B 200403 broad.mit.edu 37 2 98920178 98920178 + Missense_Mutation SNP G G A TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr2:98920178G>A ENST00000477737.1 + 26 3638 c.3434G>A c.(3433-3435)cGg>cAg p.R1145Q VWA3B_ENST00000490947.2_3'UTR NM_144992.4 NP_659429.4 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 1145 NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 TTTTGCCCTCGGAGTGCACTT 0.383000 3 64 0 0 1 0 0 SLC9A7P1 121456 broad.mit.edu 37 12 98849029 98849029 + RNA SNP G G T TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr12:98849029G>T ENST00000554295.1 - 0 1894 NR_033801.1 GGGAGCCGCTGTGTCTCCACC 0.592000 4 10 1.58986e-06 1.70763e-06 1 1 0 HYAL4 23553 broad.mit.edu 37 7 123508588 123508588 + Silent SNP C C T TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr7:123508588C>T ENST00000223026.4 + 3 899 c.261C>T c.(259-261)gtC>gtT p.V87V HYAL4_ENST00000476325.1_Silent_p.V87V NM_012269.2 NP_036401.2 Q2M3T9 HYAL4_HUMAN hyaluronoglucosaminidase 4 87 fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process integral to membrane hyalurononglucosaminidase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 23 GGCAAAATGTCACTATATTTT 0.398000 4 64 0 0 1 0 0 ASIC1 41 broad.mit.edu 37 12 50475346 50475346 + Missense_Mutation SNP C C T TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr12:50475346C>T ENST00000228468.4 + 12 2024 c.1639C>T c.(1639-1641)Cgg>Tgg p.R547W ASIC1_ENST00000552438.1_Missense_Mutation_p.R535W|ASIC1_ENST00000447966.2_Missense_Mutation_p.R501W NM_020039.3 NP_064423.2 P78348 ACCN2_HUMAN acid-sensing (proton-gated) ion channel 1 501 calcium ion transport|response to pH|signal transduction integral to plasma membrane ligand-gated sodium channel activity|protein binding Amiloride(DB00594) CGAGAGCCTTCGGGGCCACCC 0.652000 8 31 0 0 1 0 0 SLC9A7P1 121456 broad.mit.edu 37 12 98849044 98849044 + RNA SNP G G A TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr12:98849044G>A ENST00000554295.1 - 0 1879 NR_033801.1 p.P285L(1) TCCACCAGGCGGGAGAGTGGT 0.607000 8 7 0 0 1 0 0 LPPR5 163404 broad.mit.edu 37 1 99387595 99387595 + Missense_Mutation SNP A A G TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr1:99387595A>G ENST00000370188.3 - 4 1001 c.641T>C c.(640-642)aTc>aCc p.I214T LPPR5_ENST00000263177.4_Missense_Mutation_p.I214T NM_001010861.2 NP_001010861.1 Q32ZL2 LPPR5_HUMAN 214 integral to membrane hydrolase activity CTTGGCTTTGATTGTGTTGGT 0.353000 9 89 0 0 1 0 0 COL4A1 1282 broad.mit.edu 37 13 110862335 110862335 + Missense_Mutation SNP C C T TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr13:110862335C>T ENST00000375820.4 - 10 728 c.607G>A c.(607-609)Gga>Aga p.G203R COL4A1_ENST00000543140.1_Missense_Mutation_p.G203R NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 203 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) ACTGGTGGTCCGGTAAATCCT 0.438000 4 26 0 0 1 0 0 SACS 26278 broad.mit.edu 37 13 23906197 23906197 + Missense_Mutation SNP C C T TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr13:23906197C>T ENST00000382298.3 - 10 12406 c.11818G>A c.(11818-11820)Gtg>Atg p.V3940M SACS_ENST00000382292.3_Missense_Mutation_p.V3940M|SACS_ENST00000402364.1_Missense_Mutation_p.V3190M NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 3940 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) AACATTTGCACACCAATATTC 0.413000 26 108 0 0 1 0 0 HSD3B2 3284 broad.mit.edu 37 1 119965138 119965138 + Silent SNP G G A rs116342586 by1000genomes TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr1:119965138G>A ENST00000543831.1 + 4 1263 c.1014G>A c.(1012-1014)gcG>gcA p.A338A HSD3B2_ENST00000369416.3_Silent_p.A338A NM_001166120.1 NP_001159592.1 P26439 3BHS2_HUMAN hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 338 androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity p.A338A(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1) 27 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836) NADH(DB00157)|Trilostane(DB01108) GAGATCTGGCGTATAAGCCAC 0.517000 9 52 0 0 1 0 0 PCDHB3 56132 broad.mit.edu 37 5 140481456 140481456 + Missense_Mutation SNP C C T TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr5:140481456C>T ENST00000231130.2 + 1 1223 c.1223C>T c.(1222-1224)gCg>gTg p.A408V AC005754.7_ENST00000607216.1_RNA NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 408 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCAGAAGGCGCGCTGGACAGA 0.483000 14 77 0 0 1 0 0 MAGEB6 158809 broad.mit.edu 37 X 26212316 26212316 + Missense_Mutation SNP G G A TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chrX:26212316G>A ENST00000379034.1 + 2 502 c.353G>A c.(352-354)gGt>gAt p.G118D NM_173523.2 NP_775794.2 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 118 Ser-rich. breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2) 33 CCTGATGCAGGTGTTTCAGGC 0.547000 9 132 0 0 1 0 0 EFCAB6 64800 broad.mit.edu 37 22 44022419 44022419 + Missense_Mutation SNP C C G TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr22:44022419C>G ENST00000262726.7 - 20 2626 c.2373G>C c.(2371-2373)ttG>ttC p.L791F EFCAB6_ENST00000396231.2_Missense_Mutation_p.L639F NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 791 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) CACTAAGTCTCAAGCCAAGAA 0.428000 11 65 0 0 1 0 0 SSH1 54434 broad.mit.edu 37 12 109182728 109182728 + Missense_Mutation SNP C C A TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr12:109182728C>A ENST00000326495.5 - 15 2279 c.2186G>T c.(2185-2187)gGg>gTg p.G729V SSH1_ENST00000360239.3_Missense_Mutation_p.G417V NM_018984.3 NP_061857.3 Q8WYL5 SSH1_HUMAN slingshot protein phosphatase 1 729 actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 AGCTCCAGCCCCAGGGCCACT 0.607000 5 74 5.9392e-07 6.45888e-07 1 1 0 KIF1A 547 broad.mit.edu 37 2 241712572 241712572 + Missense_Mutation SNP C C T TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr2:241712572C>T ENST00000498729.2 - 13 1385 c.1139G>A c.(1138-1140)cGg>cAg p.R380Q KIF1A_ENST00000320389.7_Missense_Mutation_p.R380Q NM_001244008.1 NP_001230937.1 Q12756 KIF1A_HUMAN kinesin family member 1A 380 anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) CAGAAGGTCCCGCAGCCGGGT 0.612000 6 22 0 0 1 0 0 SLC9A7P1 121456 broad.mit.edu 37 12 98849035 98849035 + RNA SNP C C A TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr12:98849035C>A ENST00000554295.1 - 0 1888 NR_033801.1 CGCTGTGTCTCCACCAGGCGG 0.597000 5 6 6.40141e-05 6.79174e-05 1 1 0 DISP1 84976 broad.mit.edu 37 1 223165393 223165393 + Missense_Mutation SNP G G C TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr1:223165393G>C ENST00000284476.6 + 6 994 c.830G>C c.(829-831)aGa>aCa p.R277T DISP1_ENST00000495684.1_3'UTR NM_032890.3 NP_116279.2 Q96F81 DISP1_HUMAN dispatched homolog 1 (Drosophila) 277 diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5) 69 GBM - Glioblastoma multiforme(131;0.102) CATTATGAAAGAGAGAAAAGA 0.398000 3 49 0 0 1 0 0 HERC1 8925 broad.mit.edu 37 15 63920954 63920954 + Missense_Mutation SNP T T C TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr15:63920954T>C ENST00000443617.2 - 70 13114 c.13027A>G c.(13027-13029)Aaa>Gaa p.K4343E NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 4343 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 CGAACATTTTTCCCTTGCAGA 0.493000 6 57 0 0 1 0 0 ACAD10 80724 broad.mit.edu 37 12 112182675 112182675 + Missense_Mutation SNP C C T TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr12:112182675C>T ENST00000455480.2 + 14 2213 c.2036C>T c.(2035-2037)tCa>tTa p.S679L ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000549590.1_Missense_Mutation_p.S648L|ACAD10_ENST00000313698.4_Missense_Mutation_p.S648L|ACAD10_ENST00000392636.2_Missense_Mutation_p.S250L NM_001136538.1 NP_001130010.1 Q6JQN1 ACD10_HUMAN acyl-CoA dehydrogenase family, member 10 648 acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5) 47 GCTCATACCTCAAGGGGAGGT 0.582000 25 73 0 0 1 0 0 MSL2 55167 broad.mit.edu 37 3 135871463 135871463 + Missense_Mutation SNP T T C TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr3:135871463T>C ENST00000309993.2 - 2 992 c.260A>G c.(259-261)tAt>tGt p.Y87C MSL2_ENST00000434835.2_Missense_Mutation_p.Y13C NM_018133.3 NP_060603.2 Q9HCI7 MSL2_HUMAN male-specific lethal 2 homolog (Drosophila) 87 histone H4-K16 acetylation MSL complex zinc ion binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 18 AAACTGCTCATAGTCTTTGCA 0.413000 56 146 0 0 1 0 0 NRAP 4892 broad.mit.edu 37 10 115413821 115413821 + Missense_Mutation SNP C C T rs141144397 TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr10:115413821C>T ENST00000369358.4 - 5 668 c.424G>A c.(424-426)Gaa>Aaa p.E142K NRAP_ENST00000369360.3_Missense_Mutation_p.E142K|NRAP_ENST00000360478.3_Missense_Mutation_p.E142K|NRAP_ENST00000359988.3_Missense_Mutation_p.E142K Q86VF7 NRAP_HUMAN nebulin-related anchoring protein 142 fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) CTTACAATTTCGGGGTCTGGC 0.458000 19 182 0 0 1 0 0 IQSEC3 440073 broad.mit.edu 37 12 274656 274656 + Silent SNP A A G TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr12:274656A>G ENST00000538872.1 + 10 2884 c.2766A>G c.(2764-2766)tcA>tcG p.S922S IQSEC3_ENST00000326261.4_Silent_p.S922S|RP11-598F7.5_ENST00000540136.1_RNA|IQSEC3_ENST00000382841.2_Silent_p.S619S Q9UPP2 IQEC3_HUMAN IQ motif and Sec7 domain 3 922 PH. regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) TTTGCAAGTCAGTTGGCCTGC 0.478000 41 72 0 0 1 0 0 ZFYVE26 23503 broad.mit.edu 37 14 68260450 68260450 + Silent SNP G G T TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr14:68260450G>T ENST00000347230.4 - 14 2566 c.2428C>A c.(2428-2430)Cgg>Agg p.R810R ZFYVE26_ENST00000555452.1_Silent_p.R810R NM_015346.3 NP_056161.2 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 810 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 94 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) AGCTCATTCCGGCCAGACATG 0.527000 6 36 0.000157383 0.000164968 1 1 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr12:25398284C>T ENST00000311936.3 - 2 226 c.35G>A c.(34-36)gGt>gAt p.G12D KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 18 44 0 0 1 0 0 PDE4D 5144 broad.mit.edu 37 5 59284349 59284349 + Missense_Mutation SNP G G A TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr5:59284349G>A ENST00000502484.2 - 3 461 c.238C>T c.(238-240)Ccg>Tcg p.P80S PDE4D_ENST00000546160.1_Missense_Mutation_p.P80S NM_001165899.1 NP_001159371.1 Q08499 PDE4D_HUMAN phosphodiesterase 4D, cAMP-specific 0 Pro-rich. signal transduction cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1) 15 all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954) Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276) Adenosine monophosphate(DB00131)|Dyphylline(DB00651) GCAATCAGCGGCAGAATCTTC 0.468000 4 91 0 0 1 0 0 TYR 7299 broad.mit.edu 37 11 88961033 88961033 + Missense_Mutation SNP G G A TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr11:88961033G>A ENST00000263321.5 + 3 1581 c.1079G>A c.(1078-1080)aGc>aAc p.S360N NM_000372.4 NP_000363.1 P14679 TYRO_HUMAN tyrosinase 360 eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033) Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157) GCCTCTCAAAGCAGCATGCAC 0.388000 8 103 0 0 1 0 0 SZRD1 26099 broad.mit.edu 37 1 16719753 16719753 + Silent SNP C C A TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr1:16719753C>A ENST00000401088.4 + 3 307 c.132C>A c.(130-132)ccC>ccA p.P44P SZRD1_ENST00000375590.3_Silent_p.P24P|SZRD1_ENST00000471507.1_Silent_p.P43P|SZRD1_ENST00000472461.1_3'UTR|SZRD1_ENST00000492354.1_Silent_p.P24P|SZRD1_ENST00000401089.3_Silent_p.P25P NM_001114600.1|NM_001271869.1 NP_001108072.1|NP_001258798.1 SUZ RNA binding domain containing 1 CCAAAGTGCCCATTGTGATTC 0.567000 4 124 0.014758 0.0149296 1 1 0 MAGED2 10916 broad.mit.edu 37 X 54839984 54839984 + Splice_Site SNP G G T TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chrX:54839984G>T ENST00000375068.1 + 10 1504 c.e10+1 MAGED2_ENST00000375060.1_Splice_Site|MAGED2_ENST00000375062.4_Splice_Site|MAGED2_ENST00000347546.4_Splice_Site|MAGED2_ENST00000375058.1_Splice_Site|MAGED2_ENST00000375053.2_Splice_Site|MAGED2_ENST00000396224.1_Splice_Site|MAGED2_ENST00000218439.4_Splice_Site Q9UNF1 MAGD2_HUMAN melanoma antigen family D, 2 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 26 TGAAGCAGAAGTAAGTATCTC 0.393000 12 73 2.27111e-07 2.5011e-07 1 1 0 PCSK2 5126 broad.mit.edu 37 20 17338981 17338981 + Missense_Mutation SNP G G A TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr20:17338981G>A ENST00000262545.2 + 3 607 c.292G>A c.(292-294)Gct>Act p.A98T PCSK2_ENST00000377899.1_Missense_Mutation_p.A79T|PCSK2_ENST00000536609.1_Missense_Mutation_p.A63T NM_002594.3 NP_002585.2 P16519 NEC2_HUMAN proprotein convertase subtilisin/kexin type 2 98 enkephalin processing|insulin processing|islet amyloid polypeptide processing extracellular space|membrane|soluble fraction|transport vesicle serine-type endopeptidase activity breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GGTAAAGATGGCTTTGCAGCA 0.373000 6 23 0 0 1 0 0 LRRC31 79782 broad.mit.edu 37 3 169587505 169587505 + Missense_Mutation SNP C C T TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr3:169587505C>T ENST00000316428.5 - 1 148 c.91G>A c.(91-93)Gaa>Aaa p.E31K LRRC31_ENST00000397805.2_5'UTR|LRRC31_ENST00000523069.1_Missense_Mutation_p.E31K|LRRC31_ENST00000264676.5_Missense_Mutation_p.E31K NM_001277127.1|NM_024727.2 NP_001264056.1|NP_079003.2 Q6UY01 LRC31_HUMAN leucine rich repeat containing 31 31 cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 31 all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943) TTTCTGCTTTCAGCATTGGAG 0.468000 24 55 0 0 1 0 0 DDX26B 203522 broad.mit.edu 37 X 134654980 134654980 + Silent SNP C C T TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chrX:134654980C>T ENST00000370752.4 + 1 397 c.63C>T c.(61-63)ggC>ggT p.G21G DDX26B_ENST00000481908.1_3'UTR NM_182540.4 NP_872346.3 Q5JSJ4 DX26B_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B 21 VWFA. large_intestine(1)|lung(8) 9 Acute lymphoblastic leukemia(192;6.56e-05) CTGACCTGGGCACCTCTTATT 0.587000 32 125 0 0 1 0 0 ZNF628 89887 broad.mit.edu 37 19 55994305 55994305 + Missense_Mutation SNP G G A TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr19:55994305G>A ENST00000598519.1 + 3 2298 c.1745G>A c.(1744-1746)cGg>cAg p.R582Q ZNF628_ENST00000391718.2_Missense_Mutation_p.R578Q Q5EBL2 ZN628_HUMAN zinc finger protein 628 578 nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|lung(2) 7 Breast(117;0.155) BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193) GBM - Glioblastoma multiforme(193;0.0531) TCCAACCTGCGGCAGCACCAG 0.701000 7 32 0 0 1 0 0 TNFSF13B 10673 broad.mit.edu 37 13 108922337 108922337 + Missense_Mutation SNP C C T TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr13:108922337C>T ENST00000375887.4 + 1 272 c.94C>T c.(94-96)Cca>Tca p.P32S TNFSF13B_ENST00000430559.1_Missense_Mutation_p.P32S|TNFSF13B_ENST00000542136.1_Missense_Mutation_p.P32S NM_006573.4 NP_006564.1 Q9Y275 TN13B_HUMAN tumor necrosis factor (ligand) superfamily, member 13b 32 cell proliferation|immune response|signal transduction extracellular space|integral to membrane|plasma membrane|soluble fraction cytokine activity|tumor necrosis factor receptor binding large_intestine(1)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 10 all_lung(23;0.000396)|all_neural(89;0.00256)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00902)|Lung SC(71;0.104) all cancers(43;0.184)|BRCA - Breast invasive adenocarcinoma(86;0.19) TTCCATCCTCCCACGGAAGGA 0.517000 26 147 0 0 1 0 0 PIK3C2B 5287 broad.mit.edu 37 1 204438093 204438093 + Missense_Mutation SNP T T C TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr1:204438093T>C ENST00000367187.3 - 3 1394 c.838A>G c.(838-840)Atg>Gtg p.M280V PIK3C2B_ENST00000424712.2_Missense_Mutation_p.M280V NM_002646.3 NP_002637.3 O00750 P3C2B_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta 280 Interaction with GRB2. cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 52 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) TGAGGGGGCATAGTCTTGCTC 0.642000 5 111 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 3 42 0 0 1 0 0 C2orf43 60526 broad.mit.edu 37 2 20886812 20886812 + Missense_Mutation SNP C C G TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr2:20886812C>G ENST00000237822.3 - 7 908 c.829G>C c.(829-831)Gag>Cag p.E277Q C2orf43_ENST00000440866.2_3'UTR|C2orf43_ENST00000403006.2_Missense_Mutation_p.E147Q|C2orf43_ENST00000541941.1_Missense_Mutation_p.E147Q|C2orf43_ENST00000381090.3_Missense_Mutation_p.E277Q|C2orf43_ENST00000435420.2_Missense_Mutation_p.E229Q NM_001282721.1|NM_021925.2 NP_001269650.1|NP_068744.1 Q9H6V9 CB043_HUMAN chromosome 2 open reading frame 43 277 endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1) 6 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCATAGTACTCTTTTGGACAC 0.358000 11 50 0 0 1 0 0 ISYNA1 51477 broad.mit.edu 37 19 18546224 18546224 + Missense_Mutation SNP A A G TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr19:18546224A>G ENST00000338128.8 - 10 1541 c.1324T>C c.(1324-1326)Ttc>Ctc p.F442L ISYNA1_ENST00000578963.1_Missense_Mutation_p.F314L|ISYNA1_ENST00000457269.4_Missense_Mutation_p.F388L|ISYNA1_ENST00000317018.6_Missense_Mutation_p.F240L|ISYNA1_ENST00000545187.1_Missense_Mutation_p.F292L NM_001170938.1|NM_016368.4 NP_001164409.1|NP_057452.1 Q9NPH2 INO1_HUMAN inositol-3-phosphate synthase 1 inositol biosynthetic process|phospholipid biosynthetic process cytoplasm binding|inositol-3-phosphate synthase activity breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2) 12 TCAGTGCAGAAGCTCACGCGC 0.687000 10 56 0 0 1 0 0 COBL 23242 broad.mit.edu 37 7 51092921 51092921 + Missense_Mutation SNP G G C TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr7:51092921G>C ENST00000395542.2 - 14 4083 c.3899C>G c.(3898-3900)tCt>tGt p.S1300C COBL_ENST00000265136.7_Missense_Mutation_p.S1218C O75128 COBL_HUMAN cordon-bleu WH2 repeat protein 1218 NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Glioma(55;0.08) CCTTGGTGCAGAGAGAGCCTG 0.642000 5 22 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76454681 76454681 + Missense_Mutation SNP C C T rs142069633 TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr17:76454681C>T ENST00000389840.5 - 62 10025 c.9901G>A c.(9901-9903)Gat>Aat p.D3301N DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.D3310N dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) TTCGTGGCATCGGCCTCTTGC 0.522000 18 113 0 0 1 0 0 MIR521-2 574481 broad.mit.edu 37 19 54219875 54219875 + RNA SNP G G T TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr19:54219875G>T ENST00000384818.1 + 0 28 NR_030203.1 CCAAAGGGAAGAATTTTCTCT 0.403000 9 157 0.000274275 0.000284071 1 1 0 TRGC1 6966 broad.mit.edu 37 7 38301855 38301856 + RNA DEL GT GT - TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr7:38301855_38301856delGT ENST00000443402.2 - 0 330 NM_001003799.1|NM_001003806.1 NP_001003799.1|NP_001003806.1 TCAATTGTTCGTGTGTGTGTGT 0.356 7 111 --- --- --- --- FAM135B 51059 broad.mit.edu 37 8 139180153 139180153 + Frame_Shift_Del DEL C C - TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr8:139180153delC ENST00000395297.1 - 12 1413 c.1243delG c.(1243-1245)gacfs p.D415fs NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 415 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) GCAGGGCAGTCCACGTATCTG 0.522 HNSCC(54;0.14) 8 108 --- --- --- --- HRCT1 646962 broad.mit.edu 37 9 35906348 35906350 + In_Frame_Del DEL CTG CTG - TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr9:35906348_35906350delCTG ENST00000354323.2 + 1 160_162 c.64_66delCTG c.(64-66)ctgdel p.L28del NM_001039792.1 NP_001034881.1 Q6UXD1 HRCT1_HUMAN histidine rich carboxyl terminus 1 28 integral to membrane NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1) 4 TGTGGCGGTCctgctgctgctgc 0.670 8 13 --- --- --- --- ZFP36L1 677 broad.mit.edu 37 14 69256543 69256544 + Frame_Shift_Ins INS - - AG TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr14:69256543_69256544insAG ENST00000439696.2 - 2 1024_1025 c.723_724insCT c.(721-726)cctaccfs p.T242fs ZFP36L1_ENST00000336440.3_Frame_Shift_Ins_p.T242fs|ZFP36L1_ENST00000555997.1_3'UTR NM_001244701.1|NM_004926.3 NP_001231630.1|NP_004917.2 Q07352 TISB_HUMAN ZFP36 ring finger protein-like 1 242 regulation of mRNA stability cytosol|nucleus DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.T242A(1) breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1) 21 all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) TCGGGCAGGGTAGGTGAGCCCA 0.678 OREG0022753 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 136 --- --- --- --- ZFP36L1 677 broad.mit.edu 37 14 69256926 69256927 + Frame_Shift_Ins INS - - GGCT TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr14:69256926_69256927insGGCT ENST00000439696.2 - 2 641_642 c.340_341insAGCC c.(340-342)cgcfs p.R114fs ZFP36L1_ENST00000336440.3_Frame_Shift_Ins_p.R114fs|ZFP36L1_ENST00000555997.1_3'UTR NM_001244701.1|NM_004926.3 NP_001231630.1|NP_004917.2 Q07352 TISB_HUMAN ZFP36 ring finger protein-like 1 114 regulation of mRNA stability cytosol|nucleus DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1) 21 all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) CGTCTTGTAGCGGCTGGAGTTG 0.668 OREG0022753 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 28 177 --- --- --- --- HERC2P2 400322 broad.mit.edu 37 15 23331163 23331163 + RNA DEL A A - TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr15:23331163delA ENST00000560464.1 - 0 908 AATAAATACTAAAAAAAAAAA 0.368 4 6 --- --- --- --- DNM1P47 100216544 broad.mit.edu 37 15 102299886 102299887 + RNA INS - - G TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr15:102299886_102299887insG ENST00000561463.1 + 0 7932_7933 AACCTGTACTCGCGTCGGAACC 0.589 5 10 --- --- --- --- PKD1L2 114780 broad.mit.edu 37 16 81253526 81253527 + RNA INS - - TTATT rs140827348 by1000genomes TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr16:81253526_81253527insTTATT ENST00000337114.4 - 0 301 PKD1L2_ENST00000525539.1_RNA NM_001076780.1 NP_001070248.1 Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 ttagacatgaattatttaatcc 0.391 3 3 --- --- --- --- TRMU 55687 broad.mit.edu 37 22 46742442 46742443 + Splice_Site INS - - T TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76efb030-c8f7-41e9-bb9c-5884bdd4bb53 e21da535-cf34-435d-9095-3bc029172d3b g.chr22:46742442_46742443insT ENST00000290846.4 + 4 818 c.e4+1 TRMU_ENST00000424260.2_Splice_Site|TRMU_ENST00000381019.3_Splice_Site NM_018006.4 NP_060476.2 O75648 MTU1_HUMAN tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase mitochondrion ATP binding|sulfurtransferase activity|tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase activity|tRNA binding NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1) 10 Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248) GTTAGAAATGGTAAGTTCATGT 0.465 13 113 --- --- --- ---