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 NDUFV1 4723 broad.mit.edu 37 11 67379397 67379397 + Silent SNP C C A TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr11:67379397C>A ENST00000322776.6 + 8 1263 c.1110C>A c.(1108-1110)ctC>ctA p.L370L NDUFV1_ENST00000415352.2_Silent_p.L363L|NDUFV1_ENST00000532303.1_Silent_p.L269L|NDUFV1_ENST00000526169.1_3'UTR|NDUFV1_ENST00000529927.1_Silent_p.L361L NM_001166102.1|NM_007103.3 NP_001159574.1|NP_009034.2 P49821 NDUV1_HUMAN NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa 370 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I 4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2) 16 NADH(DB00157) TCGCCCGCCTCATTGAGTTCT 0.602000 25 43 4.87955e-14 5.34874e-14 1 1 0 ITGB4 3691 broad.mit.edu 37 17 73752598 73752598 + Silent SNP C C T TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr17:73752598C>T ENST00000200181.3 + 36 4984 c.4797C>T c.(4795-4797)cgC>cgT p.R1599R ITGB4_ENST00000579662.1_Silent_p.R1529R|ITGB4_ENST00000450894.3_Silent_p.R1529R|GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000449880.2_Silent_p.R1582R|ITGB4_ENST00000339591.3_Silent_p.R1582R NM_000213.3 NP_000204.3 P16144 ITB4_HUMAN integrin, beta 4 1599 Fibronectin type-III 3. cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) ACGTGTTCCGCGTGCGGGCCC 0.652000 52 98 0 0 1 0 0 AURKC 6795 broad.mit.edu 37 19 57746387 57746387 + Missense_Mutation SNP G G C TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr19:57746387G>C ENST00000302804.7 + 6 906 c.720G>C c.(718-720)gaG>gaC p.E240D AURKC_ENST00000448930.1_Missense_Mutation_p.E206D|AURKC_ENST00000415300.2_Missense_Mutation_p.E221D|AURKC_ENST00000598785.1_Missense_Mutation_p.E206D|AURKC_ENST00000599062.1_Missense_Mutation_p.E237D NM_001015878.1 NP_001015878.1 Q9UQB9 AURKC_HUMAN aurora kinase C 240 Protein kinase. cell cycle|cytokinesis condensed chromosome|cytoplasm|midbody|spindle midzone ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1) 25 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122) CACCCTTTGAGAGCGCCTCCC 0.537000 10 45 0 0 1 0 0 LRP5 4041 broad.mit.edu 37 11 68153966 68153966 + Missense_Mutation SNP G G A TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr11:68153966G>A ENST00000294304.7 + 6 1304 c.1198G>A c.(1198-1200)Gcg>Acg p.A400T NM_002335.2 NP_002326.2 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 5 400 Beta-propeller 2. A -> E (in OPPG). adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 CATCCGCAGGGCGTACCTGGA 0.642000 33 58 0 0 1 0 0 ZNF160 90338 broad.mit.edu 37 19 53573428 53573428 + Missense_Mutation SNP C C T TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr19:53573428C>T ENST00000601421.1 - 3 1127 c.251G>A c.(250-252)aGa>aAa p.R84K ZNF160_ENST00000599056.1_Missense_Mutation_p.R120K|ZNF160_ENST00000429604.1_Missense_Mutation_p.R120K|ZNF160_ENST00000418871.1_Missense_Mutation_p.R120K Q9HCG1 ZN160_HUMAN zinc finger protein 160 120 hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 35 GBM - Glioblastoma multiforme(134;0.02) GCTTTCGTGTCTTTCCAACAC 0.398000 37 49 0 0 1 0 0 EXTL3 2137 broad.mit.edu 37 8 28608269 28608269 + Missense_Mutation SNP C C G TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr8:28608269C>G ENST00000220562.4 + 7 3548 c.2646C>G c.(2644-2646)ttC>ttG p.F882L EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Missense_Mutation_p.F498L NM_001440.2 NP_001431.1 O43909 EXTL3_HUMAN exostosin-like glycosyltransferase 3 882 integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1) 36 Ovarian(32;0.069) KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228) GCATCAACTTCTTCGTGAAGG 0.567000 50 73 0 0 1 0 0 MRPS17P9 359760 broad.mit.edu 37 X 118513990 118513990 + RNA SNP C C T TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chrX:118513990C>T ENST00000413240.1 - 0 491 AACTACCTATCTGGAGAGTCC 0.423000 21 29 0 0 1 0 0 NPTX2 4885 broad.mit.edu 37 7 98256518 98256518 + Missense_Mutation SNP C C A TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr7:98256518C>A ENST00000265634.3 + 4 1095 c.930C>A c.(928-930)caC>caA p.H310Q NM_002523.2 NP_002514.1 P47972 NPTX2_HUMAN neuronal pentraxin II 310 Pentaxin. synaptic transmission extracellular region metal ion binding|sugar binding breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 18 all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142) STAD - Stomach adenocarcinoma(171;0.215) GCAAGTGGCACCACATCTGTG 0.642000 22 42 4.16121e-05 4.27368e-05 1 1 0 SYCP2 10388 broad.mit.edu 37 20 58470571 58470571 + Missense_Mutation SNP G G A TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr20:58470571G>A ENST00000357552.3 - 20 1811 c.1586C>T c.(1585-1587)tCa>tTa p.S529L SYCP2_ENST00000371001.2_Missense_Mutation_p.S529L Q9BX26 SYCP2_HUMAN synaptonemal complex protein 2 529 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;1.19e-09) TCTATTTTCTGATGTTTGAGA 0.373000 43 59 0 0 1 0 0 AP4E1 23431 broad.mit.edu 37 15 51294809 51294809 + Missense_Mutation SNP C C T TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr15:51294809C>T ENST00000261842.5 + 21 3470 c.3364C>T c.(3364-3366)Ctt>Ttt p.L1122F AP4E1_ENST00000561397.1_3'UTR|AP4E1_ENST00000560508.1_Missense_Mutation_p.L1047F NM_001252127.1|NM_007347.4 NP_001239056.1|NP_031373.2 Q9UPM8 AP4E1_HUMAN adaptor-related protein complex 4, epsilon 1 subunit 1122 intracellular protein transport|vesicle-mediated transport COPI vesicle coat binding|structural molecule activity breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2) 27 all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364) CTGTTCTACTCTTCCTGACTA 0.458000 21 30 0 0 1 0 0 LGR6 59352 broad.mit.edu 37 1 202287714 202287714 + Silent SNP C C T TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr1:202287714C>T ENST00000367278.3 + 18 2372 c.2283C>T c.(2281-2283)ggC>ggT p.G761G LGR6_ENST00000255432.7_Silent_p.G709G|LGR6_ENST00000439764.2_Silent_p.G622G NM_001017403.1 NP_001017403.1 Q9HBX8 LGR6_HUMAN leucine-rich repeat containing G protein-coupled receptor 6 761 integral to membrane|plasma membrane protein-hormone receptor activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 36 TGCCGCGGGGCGACTTTGAGG 0.622000 20 37 0 0 1 0 0 UBE2E2 7325 broad.mit.edu 37 3 23574161 23574161 + Silent SNP C C T TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr3:23574161C>T ENST00000396703.1 + 5 657 c.477C>T c.(475-477)tcC>tcT p.S159S UBE2E2_ENST00000425792.1_Silent_p.S159S NM_152653.3 NP_689866.1 Q96LR5 UB2E2_HUMAN ubiquitin-conjugating enzyme E2E 2 159 ISG15-protein conjugation|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination nucleolus ATP binding|ISG15 ligase activity|ubiquitin-protein ligase activity endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(2) 10 TTCTCCTCTCCATCTGCTCAC 0.388000 28 44 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82584883 82584883 + Missense_Mutation SNP C C G TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr7:82584883C>G ENST00000423517.2 - 5 5723 c.5386G>C c.(5386-5388)Gaa>Caa p.E1796Q PCLO_ENST00000333891.8_Missense_Mutation_p.E1796Q NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1727 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TGTTGCTGTTCTATTTCCCTC 0.383000 29 69 0 0 1 0 0 ANKRD30BP2 149992 broad.mit.edu 37 21 14414855 14414855 + RNA SNP A A G rs141732548 by1000genomes TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr21:14414855A>G ENST00000507941.1 + 0 95 GCCAATGGCCATGCAGAAGTA 0.448000 4 40 0 0 1 0 0 ZNF235 9310 broad.mit.edu 37 19 44792495 44792495 + Missense_Mutation SNP G G T TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr19:44792495G>T ENST00000291182.4 - 5 1195 c.1093C>A c.(1093-1095)Cat>Aat p.H365N ZNF235_ENST00000589799.1_Intron|ZNF235_ENST00000589248.1_Intron NM_004234.4 NP_004225.3 Q14590 ZN235_HUMAN zinc finger protein 235 365 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 29 Prostate(69;0.0352)|all_neural(266;0.116) ATAGGCAAATGAGCATAAAGA 0.453000 11 33 3.86212e-05 4.00256e-05 1 1 0 C1orf109 54955 broad.mit.edu 37 1 38155466 38155466 + Silent SNP C C T TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr1:38155466C>T ENST00000358011.4 - 2 276 c.87G>A c.(85-87)caG>caA p.Q29Q C1orf109_ENST00000494120.1_5'UTR NM_017850.1 NP_060320.1 Q9NX04 CA109_HUMAN chromosome 1 open reading frame 109 29 lung(2)|prostate(2) 4 Myeloproliferative disorder(586;0.0393) GCAGGGCACTCTGCCACAGGC 0.642000 22 25 0 0 1 0 0 KCNQ4 9132 broad.mit.edu 37 1 41285102 41285102 + Missense_Mutation SNP C C G TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr1:41285102C>G ENST00000347132.5 + 5 874 c.792C>G c.(790-792)aaC>aaG p.N264K KCNQ4_ENST00000509682.2_Missense_Mutation_p.N264K|KCNQ4_ENST00000506017.1_3'UTR NM_004700.3|NM_172163.2 NP_004691.2|NP_751895.1 P56696 KCNQ4_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 4 264 sensory perception of sound basal plasma membrane|voltage-gated potassium channel complex central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1) 26 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.38e-17) AGGACGCCAACTCCGACTTCT 0.637000 45 63 0 0 1 0 0 CAPZA2 830 broad.mit.edu 37 7 116544411 116544411 + Missense_Mutation SNP G G C TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr7:116544411G>C ENST00000361183.2 + 5 539 c.400G>C c.(400-402)Gaa>Caa p.E134Q CAPZA2_ENST00000458284.2_Missense_Mutation_p.E134Q|CAPZA2_ENST00000490693.1_Missense_Mutation_p.E134Q NM_006136.2 NP_006127.1 P47755 CAZA2_HUMAN capping protein (actin filament) muscle Z-line, alpha 2 134 actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly cytosol|extracellular region|F-actin capping protein complex actin binding endometrium(2)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 13 all_cancers(3;8.53e-08)|all_epithelial(6;7.79e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) GBM - Glioblastoma multiforme(2;5.01e-06)|STAD - Stomach adenocarcinoma(10;0.000512)|all cancers(2;0.00326) TTACGTAAAAGAACATTACCC 0.408000 32 41 0 0 1 0 0 UNC45B 146862 broad.mit.edu 37 17 33495263 33495263 + Silent SNP C C T TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr17:33495263C>T ENST00000268876.5 + 10 1432 c.1335C>T c.(1333-1335)ctC>ctT p.L445L UNC45B_ENST00000591048.1_Silent_p.L445L|UNC45B_ENST00000433649.1_Silent_p.L445L|UNC45B_ENST00000394570.2_Silent_p.L445L|UNC45B_ENST00000378449.1_Silent_p.L445L NM_173167.2 NP_775259.1 Q8IWX7 UN45B_HUMAN unc-45 homolog B (C. elegans) 445 cell differentiation|muscle organ development cytosol binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3) 59 Ovarian(249;0.17) TGGAGGCCCTCATCCATGCCT 0.557000 23 38 0 0 1 0 0 MIR1207 100302175 broad.mit.edu 37 8 129061434 129061434 + RNA SNP G G A TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr8:129061434G>A ENST00000408249.1 + 0 37 NR_031612.1 GGCTGGCTGGGTCTGGTAGTG 0.567000 27 34 0 0 1 0 0 PPP1R16B 26051 broad.mit.edu 37 20 37534656 37534656 + Silent SNP C C T TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr20:37534656C>T ENST00000299824.1 + 7 930 c.741C>T c.(739-741)ctC>ctT p.L247L PPP1R16B_ENST00000373331.2_Intron NM_015568.2 NP_056383.1 Q96T49 PP16B_HUMAN protein phosphatase 1, regulatory subunit 16B 247 regulation of filopodium assembly|signal transduction nucleus|plasma membrane protein phosphatase binding biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 49 Myeloproliferative disorder(115;0.00878) CAGCTGAGCTCCTCCTGGACC 0.597000 27 39 0 0 1 0 0 MYPN 84665 broad.mit.edu 37 10 69902832 69902832 + Missense_Mutation SNP C C G TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr10:69902832C>G ENST00000358913.5 + 3 1526 c.1038C>G c.(1036-1038)atC>atG p.I346M MYPN_ENST00000354393.2_Missense_Mutation_p.I71M|MYPN_ENST00000373675.3_Missense_Mutation_p.I346M|MYPN_ENST00000540630.1_Missense_Mutation_p.I346M NM_001256267.1|NM_032578.3 NP_001243196.1|NP_115967.2 Q86TC9 MYPN_HUMAN myopalladin 346 Ig-like 1.|Interaction with CARP. nucleus|sarcomere actin binding breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5) 94 CTTCTAACATCTATGGGACAG 0.393000 22 54 0 0 1 0 0 DPH3 285381 broad.mit.edu 37 3 16305733 16305733 + Missense_Mutation SNP C C T TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr3:16305733C>T ENST00000488423.1 - 2 207 c.112G>A c.(112-114)Gat>Aat p.D38N DPH3_ENST00000285082.4_5'UTR|DPH3_ENST00000383775.4_Intron NM_206831.2 NP_996662.1 Q96FX2 DPH3_HUMAN diphthamide biosynthesis 3 38 negative regulation of protein secretion|peptidyl-diphthamide biosynthetic process from peptidyl-histidine|positive regulation of binding cytoplasm|nucleus metal ion binding|protein binding large_intestine(2) 2 TTCTCCAAATCTTCCTACAAC 0.448000 12 15 0 0 1 0 0 CYLD 1540 broad.mit.edu 37 16 50811826 50811826 + Nonsense_Mutation SNP C C A TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr16:50811826C>A ENST00000540145.1 + 8 1527 c.1112C>A c.(1111-1113)tCa>tAa p.S371* CYLD_ENST00000568704.2_Nonsense_Mutation_p.S368*|CYLD_ENST00000566206.1_Nonsense_Mutation_p.S368*|CYLD_ENST00000569418.1_Nonsense_Mutation_p.S368*|CYLD_ENST00000311559.9_Nonsense_Mutation_p.S371*|CYLD_ENST00000427738.3_Nonsense_Mutation_p.S371*|CYLD_ENST00000398568.2_Nonsense_Mutation_p.S368*|CYLD_ENST00000564326.1_Nonsense_Mutation_p.S368* Q9NQC7 CYLD_HUMAN cylindromatosis (turban tumor syndrome) 371 Interaction with TRIP. cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding p.S371*(1) central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1) 62 all_cancers(37;0.0156) CAATCCAAATCAAAAAATACA 0.313000 """Mis, N, F, S""" cylindroma cylindroma Multiple Trichoepithelioma, Familial;Familial Cylindromatosis 25 10 2.98393e-07 3.14971e-07 1 1 0 ZNF814 730051 broad.mit.edu 37 19 58385546 58385546 + Missense_Mutation SNP G G T TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr19:58385546G>T ENST00000435989.2 - 3 1446 c.1212C>A c.(1210-1212)gaC>gaA p.D404E ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 404 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.D404E(10) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 AATGTTTTTTGTCAGTGTGAA 0.393000 5 12 0.000602214 0.000612968 1 1 0 LONP1 9361 broad.mit.edu 37 19 5719865 5719865 + Silent SNP T T C TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr19:5719865T>C ENST00000360614.3 - 1 436 c.279A>G c.(277-279)ggA>ggG p.G93G LONP1_ENST00000590511.1_5'UTR|LONP1_ENST00000593119.1_Intron|LONP1_ENST00000585374.1_Intron|LONP1_ENST00000540670.2_Intron NM_004793.2 NP_004784.2 P36776 LONM_HUMAN lon peptidase 1, mitochondrial 93 cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia mitochondrial nucleoid ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 cgccgccggcTCCTTCCTCCG 0.736000 4 19 0 0 1 0 0 C16orf78 123970 broad.mit.edu 37 16 49412473 49412473 + Silent SNP C C A TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr16:49412473C>A ENST00000299191.3 + 3 480 c.363C>A c.(361-363)ggC>ggA p.G121G NM_144602.2 NP_653203.1 Q8WTQ4 CP078_HUMAN chromosome 16 open reading frame 78 121 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1) 22 TGGTCCCTGGCAGCTACATCA 0.542000 4 3 0.184627 0.184627 1 1 0 MYH6 4624 broad.mit.edu 37 14 23862200 23862200 + Missense_Mutation SNP C C T TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr14:23862200C>T ENST00000405093.3 - 24 3242 c.3172G>A c.(3172-3174)Gag>Aag p.E1058K MYH6_ENST00000356287.3_Missense_Mutation_p.E1058K NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 1058 adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) AGGTCGCCCTCCAGTTTCCGC 0.517000 37 88 0 0 1 0 0 TRRAP 8295 broad.mit.edu 37 7 98563391 98563391 + Missense_Mutation SNP G G A TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr7:98563391G>A ENST00000359863.4 + 48 7237 c.7028G>A c.(7027-7029)cGg>cAg p.R2343Q TRRAP_ENST00000355540.3_Missense_Mutation_p.R2325Q|TRRAP_ENST00000446306.3_Missense_Mutation_p.R2325Q NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 2343 Interaction with TP53. histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) ATGGAGATGCGGAAGAACTTC 0.527000 26 37 0 0 1 0 0 TRIM36 55521 broad.mit.edu 37 5 114472733 114472733 + Missense_Mutation SNP T T C TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr5:114472733T>C ENST00000513154.1 - 7 1500 c.1174A>G c.(1174-1176)Aca>Gca p.T392A TRIM36_ENST00000514154.1_Missense_Mutation_p.T249A|TRIM36_ENST00000282369.3_Missense_Mutation_p.T404A Q9NQ86 TRI36_HUMAN tripartite motif containing 36 404 COS. acrosomal vesicle|cytoskeleton ligase activity|zinc ion binding breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 37 all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195) OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06) AGAAGTTCTGTTTGTTTAGAG 0.353000 15 21 0 0 1 0 0 ATP1A4 480 broad.mit.edu 37 1 160143991 160143991 + Silent SNP C C T TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr1:160143991C>T ENST00000368081.4 + 14 2553 c.2082C>T c.(2080-2082)atC>atT p.I694I ATP1A4_ENST00000418334.1_3'UTR NM_144699.3 NP_653300.2 Q13733 AT1A4_HUMAN ATPase, Na+/K+ transporting, alpha 4 polypeptide 694 ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 75 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) accctgagatcgtgtttgctc 0.527000 24 35 0 0 1 0 0 CACNA1H 8912 broad.mit.edu 37 16 1246017 1246017 + Missense_Mutation SNP G G A TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr16:1246017G>A ENST00000348261.5 + 5 885 c.637G>A c.(637-639)Gtg>Atg p.V213M CACNA1H_ENST00000565831.1_Missense_Mutation_p.V213M|CACNA1H_ENST00000358590.4_Missense_Mutation_p.V213M NM_021098.2 NP_066921.2 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, alpha 1H subunit 213 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) CATCAACCGCGTGCCTAGTAA 0.652000 43 17 0 0 1 0 0 ZMYM3 9203 broad.mit.edu 37 X 70465837 70465837 + Splice_Site SNP G G A TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chrX:70465837G>A ENST00000373998.1 - 16 3345 c.2649_splice c.e16+1 p.P883_splice ZMYM3_ENST00000353904.2_Splice_Site_p.P895_splice|ZMYM3_ENST00000373984.3_Splice_Site_p.P897_splice|ZMYM3_ENST00000314425.5_Splice_Site_p.P895_splice|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373988.1_Splice_Site_p.P897_splice NM_001171162.1 NP_001164633.1 Q14202 ZMYM3_HUMAN zinc finger, MYM-type 3 895 multicellular organismal development nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(35;0.156) GAAACTCACCGGGATAGGCAT 0.582000 46 76 0 0 1 0 0 ABCA4 24 broad.mit.edu 37 1 94544910 94544910 + Missense_Mutation SNP C C A TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr1:94544910C>A ENST00000370225.3 - 9 1293 c.1207G>T c.(1207-1209)Gat>Tat p.D403Y ABCA4_ENST00000535735.1_Missense_Mutation_p.D403Y NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 403 phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) GCAGGTGAATCAGGAGTGTAC 0.493000 34 48 4.74835e-14 5.25546e-14 1 1 0 PITPNM2 57605 broad.mit.edu 37 12 123470771 123470771 + Missense_Mutation SNP C C T TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr12:123470771C>T ENST00000280562.5 - 25 4040 c.3835G>A c.(3835-3837)Gac>Aac p.D1279N PITPNM2_ENST00000542749.1_Missense_Mutation_p.D1285N|PITPNM2_ENST00000392428.1_Missense_Mutation_p.D1006N|PITPNM2_ENST00000320201.4_Missense_Mutation_p.D1285N Q9BZ72 PITM2_HUMAN phosphatidylinositol transfer protein, membrane-associated 2 0 metabolic process|transport endomembrane system|integral to membrane|intracellular membrane-bounded organelle calcium ion binding|lipid binding NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 39 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123) CGCAGAAAGTCGCCCTGGCCG 0.731000 6 9 0 0 1 0 0 TNRC6A 27327 broad.mit.edu 37 16 24818089 24818089 + Silent SNP C C T TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr16:24818089C>T ENST00000395799.3 + 17 4653 c.4524C>T c.(4522-4524)ttC>ttT p.F1508F TNRC6A_ENST00000315183.7_Silent_p.F1459F|CTD-2515A14.1_ENST00000568895.1_RNA NM_014494.2 NP_055309.2 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 1508 negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 GBM - Glioblastoma multiforme(48;0.0394) TAAATGCTTTCAGCAACTTCC 0.502000 13 12 0 0 1 0 0 CDC42BPG 55561 broad.mit.edu 37 11 64603681 64603681 + Silent SNP G G A TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr11:64603681G>A ENST00000342711.5 - 13 1575 c.1576C>T c.(1576-1578)Cta>Tta p.L526L NM_017525.2 NP_059995.2 Q6DT37 MRCKG_HUMAN CDC42 binding protein kinase gamma (DMPK-like) 526 actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|centrosome ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(1)|lung(3) 4 GCCTCCTGTAGCCTCTGAAGC 0.701000 OREG0004017 type=REGULATORY REGION|Gene=CDC42BPG|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 5 10 0 0 1 0 0 TIAM2 26230 broad.mit.edu 37 6 155532355 155532355 + Missense_Mutation SNP G G C TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr6:155532355G>C ENST00000461783.3 + 17 4355 c.3082G>C c.(3082-3084)Gat>Cat p.D1028H TIAM2_ENST00000456877.2_Missense_Mutation_p.D340H|TIAM2_ENST00000456144.1_Missense_Mutation_p.D1028H|TIAM2_ENST00000528391.2_Missense_Mutation_p.D364H|TIAM2_ENST00000318981.5_Missense_Mutation_p.D1028H|TIAM2_ENST00000529824.2_Missense_Mutation_p.D1028H|TIAM2_ENST00000367174.2_Missense_Mutation_p.D404H|TIAM2_ENST00000360366.4_Missense_Mutation_p.D1052H Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 1028 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 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) CAACGTCCCTGATATCACAAC 0.433000 17 29 0 0 1 0 0 ARID4A 5926 broad.mit.edu 37 14 58790207 58790207 + Missense_Mutation SNP G G A TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr14:58790207G>A ENST00000355431.3 + 8 827 c.454G>A c.(454-456)Gaa>Aaa p.E152K ARID4A_ENST00000348476.3_Missense_Mutation_p.E152K|ARID4A_ENST00000395168.3_Missense_Mutation_p.E152K|ARID4A_ENST00000431317.2_Missense_Mutation_p.E152K NM_002892.3 NP_002883.3 P29374 ARI4A_HUMAN AT rich interactive domain 4A (RBP1-like) 152 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter transcriptional repressor complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 TTTTAGTACTGAAGATGAAAA 0.328000 14 26 0 0 1 0 0 AFAP1L2 84632 broad.mit.edu 37 10 116060050 116060050 + Silent SNP C C T TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr10:116060050C>T ENST00000369271.3 - 15 2160 c.1860G>A c.(1858-1860)caG>caA p.Q620Q AFAP1L2_ENST00000545353.1_Silent_p.Q673Q|AFAP1L2_ENST00000304129.4_Silent_p.Q620Q|AFAP1L2_ENST00000491814.1_5'UTR NM_001001936.1|NM_032550.2 NP_001001936.1|NP_115939.1 Q8N4X5 AF1L2_HUMAN actin filament associated protein 1-like 2 620 inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle cytoplasm protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2) 21 Colorectal(252;0.175)|Breast(234;0.231) Epithelial(162;0.0219)|all cancers(201;0.0561) AGGAGATTCTCTGCTGTTCCG 0.597000 31 74 0 0 1 0 0 LRRK2 120892 broad.mit.edu 37 12 40704287 40704287 + Missense_Mutation SNP G G A TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr12:40704287G>A ENST00000298910.7 + 31 4430 c.4372G>A c.(4372-4374)Gat>Aat p.D1458N NM_198578.3 NP_940980.3 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 1458 Roc. activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) GGATGTTTCTGATGAGAAGCA 0.478000 47 57 0 0 1 0 0 PREX2 80243 broad.mit.edu 37 8 68956825 68956825 + Splice_Site SNP G G A TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr8:68956825G>A ENST00000288368.4 + 8 1220 c.943_splice c.e8+1 p.A315_splice PREX2_ENST00000529398.1_3'UTR NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 315 PH. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 TGATGGCACCGGTAAGTGATT 0.423000 4 61 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82584766 82584766 + Missense_Mutation SNP C C G TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr7:82584766C>G ENST00000423517.2 - 5 5840 c.5503G>C c.(5503-5505)Gat>Cat p.D1835H PCLO_ENST00000333891.8_Missense_Mutation_p.D1835H NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1766 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GGAGATGCATCTTCAATGGGA 0.433000 69 116 0 0 1 0 0 PBRM1 55193 broad.mit.edu 37 3 52668820 52668820 + Nonsense_Mutation SNP C C A TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr3:52668820C>A ENST00000356770.4 - 10 1005 c.1003G>T c.(1003-1005)Gaa>Taa p.E335* PBRM1_ENST00000409057.1_Nonsense_Mutation_p.E367*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.E367*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.E367*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.E367*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.E367*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.E367*|PBRM1_ENST00000296302.7_Nonsense_Mutation_p.E367* Q86U86 PB1_HUMAN polybromo 1 367 chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1) 335 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) TCTCCCTCTTCATAGCGTGCA 0.368000 """Mis, N, F, S, D, O""" """clear cell renal carcinoma, breast""" 28 14 2.47511e-08 2.63703e-08 1 1 0 PTX3 5806 broad.mit.edu 37 3 157154797 157154797 + Silent SNP C C T TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr3:157154797C>T ENST00000295927.3 + 1 220 c.75C>T c.(73-75)ctC>ctT p.L25L VEPH1_ENST00000392832.2_Intron|VEPH1_ENST00000392833.2_Intron|VEPH1_ENST00000362010.2_Intron|VEPH1_ENST00000543418.1_Intron NM_002852.3 NP_002843.2 P26022 PTX3_HUMAN pentraxin 3, long 25 inflammatory response extracellular region central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1) 10 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) ATTATGATCTCATGTATGTGA 0.448000 34 71 0 0 1 0 0 LUZP4 51213 broad.mit.edu 37 X 114537943 114537943 + Missense_Mutation SNP C C T TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chrX:114537943C>T ENST00000371920.3 + 3 309 c.302C>T c.(301-303)tCt>tTt p.S101F LUZP4_ENST00000451986.2_Intron NM_016383.3 NP_057467.1 Q9P127 LUZP4_HUMAN leucine zipper protein 4 101 nucleus endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 14 GGATTCAAGTCTGGACAACAC 0.333000 51 105 0 0 1 0 0 LRRC37A2 474170 broad.mit.edu 37 17 44626546 44626546 + Silent SNP G G A TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr17:44626546G>A ENST00000576629.1 + 10 4536 c.4041G>A c.(4039-4041)gcG>gcA p.A1347A ARL17A_ENST00000573185.1_Intron|ARL17A_ENST00000337845.7_Intron|ARL17A_ENST00000329240.4_Intron|LRRC37A2_ENST00000333412.3_Silent_p.A1347A|ARL17A_ENST00000445552.2_Intron A6NM11 L37A2_HUMAN leucine rich repeat containing 37, member A2 1347 integral to membrane endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2) 15 Melanoma(429;0.211) BRCA - Breast invasive adenocarcinoma(366;0.232) TCTCTGCAGCGAAGAGCCTCA 0.453000 30 88 0 0 1 0 0 ISY1 57461 broad.mit.edu 37 3 128853674 128853674 + Missense_Mutation SNP C C A TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr3:128853674C>A ENST00000393292.3 - 8 603 c.542G>T c.(541-543)cGt>cTt p.R181L ISY1_ENST00000393295.3_Splice_Site|ISY1_ENST00000273541.8_Splice_Site|ISY1-RAB43_ENST00000418265.1_Splice_Site|ISY1_ENST00000471497.1_Intron ISY1 splicing factor homolog (S. cerevisiae) endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|skin(1) 15 CAGAGACCTACGTTTCTTTTC 0.388000 18 52 2.27731e-05 2.38177e-05 1 1 0 RAI2 10742 broad.mit.edu 37 X 17818621 17818621 + Missense_Mutation SNP T T G TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chrX:17818621T>G ENST00000545871.1 - 3 1970 c.1510A>C c.(1510-1512)Aag>Cag p.K504Q RAI2_ENST00000451717.1_Missense_Mutation_p.K504Q|RAI2_ENST00000415486.3_Missense_Mutation_p.K454Q|RAI2_ENST00000360011.1_Missense_Mutation_p.K504Q|RAI2_ENST00000331511.1_Missense_Mutation_p.K504Q NM_001172739.1|NM_001172743.1 NP_001166210.1|NP_001166214.1 Q9Y5P3 RAI2_HUMAN retinoic acid induced 2 504 embryo development breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1) 22 Hepatocellular(33;0.183) TTCTTTAACTTTATGCTCCGG 0.438000 199 320 0 0 1 0 0 TFIP11 24144 broad.mit.edu 37 22 26892128 26892128 + Missense_Mutation SNP G G A TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr22:26892128G>A ENST00000407690.1 - 12 2043 c.1760C>T c.(1759-1761)tCt>tTt p.S587F TFIP11_ENST00000407431.1_Missense_Mutation_p.S587F|TFIP11_ENST00000405938.1_Missense_Mutation_p.S587F|TFIP11_ENST00000407148.1_Missense_Mutation_p.S587F NM_012143.2 NP_036275.1 Q9UBB9 TFP11_HUMAN tuftelin interacting protein 11 587 biomineral tissue development catalytic step 2 spliceosome|cytoplasm|nuclear speck DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 25 GAGCTTGGCAGAGGAGTCGCT 0.577000 64 89 0 0 1 0 0 EIF5B 9669 broad.mit.edu 37 2 100009551 100009551 + Missense_Mutation SNP C C T TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr2:100009551C>T ENST00000289371.5 + 18 3072 c.2870C>T c.(2869-2871)cCt>cTt p.P957L NM_015904.3 NP_056988.3 O60841 IF2P_HUMAN eukaryotic translation initiation factor 5B 957 regulation of translational initiation cytosol GTP binding|GTPase activity|protein binding|translation initiation factor activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 GATGAAATCCCTGTTCTTAAA 0.393000 11 26 0 0 1 0 0 CNOT3 4849 broad.mit.edu 37 19 54656965 54656965 + Silent SNP G G T TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr19:54656965G>T ENST00000358389.3 + 17 2396 c.1542G>T c.(1540-1542)ctG>ctT p.L514L CNOT3_ENST00000496327.1_Intron|CNOT3_ENST00000406403.1_Intron|CNOT3_ENST00000221232.5_Intron O75175 CNOT3_HUMAN CCR4-NOT transcription complex, subunit 3 321 Pro-rich. nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3) 28 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CTGGTCCACTGAGGCACACCT 0.677000 16 26 5.03518e-11 5.4152e-11 1 1 0 PPP1CB 5500 broad.mit.edu 37 2 29011670 29011670 + Missense_Mutation SNP C C T TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr2:29011670C>T ENST00000395366.2 + 6 1011 c.739C>T c.(739-741)Cat>Tat p.H247Y PPP1CB_ENST00000358506.2_Missense_Mutation_p.H247Y|PPP1CB_ENST00000296122.6_Missense_Mutation_p.H247Y|SPDYA_ENST00000462832.1_3'UTR NM_002709.2 NP_002700.1 P62140 PP1B_HUMAN protein phosphatase 1, catalytic subunit, beta isozyme 247 cell cycle|cell division|glycogen metabolic process|triglyceride catabolic process MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex metal ion binding|myosin phosphatase activity|myosin-light-chain-phosphatase activity|protein binding cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 9 Acute lymphoblastic leukemia(172;0.155) TTGTCGAGCTCATCAGGTATG 0.398000 15 31 0 0 1 0 0 KIF4B 285643 broad.mit.edu 37 5 154393830 154393830 + Silent SNP A A G TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr5:154393830A>G ENST00000435029.4 + 1 571 c.411A>G c.(409-411)aaA>aaG p.K137K NM_001099293.1 NP_001092763.1 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 137 Kinesin-motor. axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) TTACTCTGAAAGTGTCTTACT 0.373000 52 52 0 0 1 0 0 SLC32A1 140679 broad.mit.edu 37 20 37356570 37356570 + Missense_Mutation SNP C C T TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr20:37356570C>T ENST00000217420.1 + 2 1129 c.866C>T c.(865-867)gCg>gTg p.A289V NM_080552.2 NP_542119.1 Q9H598 VIAAT_HUMAN solute carrier family 32 (GABA vesicular transporter), member 1 289 neurotransmitter secretion clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane vesicular hydrogen:amino acid antiporter activity breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1) 38 Myeloproliferative disorder(115;0.00878) Glycine(DB00145) CTATCGCGGGCGCGCGACTGG 0.527000 3 33 0 0 1 0 0 KCNH7 90134 broad.mit.edu 37 2 163374320 163374320 + Missense_Mutation SNP C C T TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr2:163374320C>T ENST00000332142.5 - 4 911 c.812G>A c.(811-813)cGg>cAg p.R271Q KCNH7_ENST00000477019.1_5'UTR|KCNH7_ENST00000328032.4_Missense_Mutation_p.R271Q NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 271 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) AGATGCTCTCCGTATACTACA 0.468000 21 42 0 0 1 0 0 CRB1 23418 broad.mit.edu 37 1 197398707 197398707 + Silent SNP C C T TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr1:197398707C>T ENST00000367397.1 + 4 1806 c.948C>T c.(946-948)caC>caT p.H316H CRB1_ENST00000535699.1_Silent_p.H911H|CRB1_ENST00000367400.3_Silent_p.H935H|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367399.2_Silent_p.H823H|CRB1_ENST00000544212.1_Silent_p.H416H P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 935 EGF-like 8. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding p.H935Q(1) NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 CGTGTCCTCACGGAGCCCAGT 0.532000 29 29 0 0 1 0 0 MET 4233 broad.mit.edu 37 7 116340200 116340200 + Silent SNP C C T TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr7:116340200C>T ENST00000397752.3 + 2 1262 c.1062C>T c.(1060-1062)gcC>gcT p.A354A MET_ENST00000436117.2_Silent_p.A354A|MET_ENST00000318493.6_Silent_p.A354A NM_000245.2|NM_001127500.1 NP_000236.2|NP_001120972.1 P08581 MET_HUMAN met proto-oncogene 354 Sema. axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3) 233 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) CAGATTCTGCCGAACCAATGG 0.473000 Mis """papillary renal, head-neck squamous cell """ papillary renal Hereditary Papillary Renal Carcinoma (type 1) 13 27 0 0 1 0 0 OR4D5 219875 broad.mit.edu 37 11 123811134 123811134 + Missense_Mutation SNP G G A TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr11:123811134G>A ENST00000307033.2 + 1 885 c.811G>A c.(811-813)Gtc>Atc p.V271I NM_001001965.1 NP_001001965.1 Q8NGN0 OR4D5_HUMAN olfactory receptor, family 4, subfamily D, member 5 271 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V271I(1) autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) GGACAAGGCCGTCTCTGTGCT 0.493000 35 72 0 0 1 0 0 ARHGAP9 64333 broad.mit.edu 37 12 57869285 57869285 + Silent SNP G G C TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr12:57869285G>C ENST00000393797.2 - 14 1887 c.1695C>G c.(1693-1695)ctC>ctG p.L565L ARHGAP9_ENST00000356411.2_Silent_p.L494L|ARHGAP9_ENST00000430041.2_Silent_p.L291L|ARHGAP9_ENST00000393791.3_Silent_p.L475L|ARHGAP9_ENST00000550288.1_Silent_p.L554L|ARHGAP9_ENST00000424809.2_Silent_p.L475L Q9BRR9 RHG09_HUMAN Rho GTPase activating protein 9 494 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1) 30 GBM - Glioblastoma multiforme(3;3.37e-34) GGCGGCTGCTGAGGCGCAGCA 0.731000 6 12 0 0 1 0 0 DCHS1 8642 broad.mit.edu 37 11 6661790 6661790 + Missense_Mutation SNP A A G TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr11:6661790A>G ENST00000299441.3 - 2 1466 c.1055T>C c.(1054-1056)gTg>gCg p.V352A NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 352 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGCATCTCGCACATGCACAGT 0.597000 49 92 0 0 1 0 0 FCGR2A 2212 broad.mit.edu 37 1 161480678 161480678 + Missense_Mutation SNP C C T TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr1:161480678C>T ENST00000271450.6 + 5 712 c.674C>T c.(673-675)gCg>gTg p.A225V FCGR2A_ENST00000367972.4_Missense_Mutation_p.A224V|FCGR2A_ENST00000467525.1_3'UTR NM_001136219.1|NM_021642.3 NP_001129691.1|NP_067674.2 P12318 FCG2A_HUMAN Fc fragment of IgG, low affinity IIa, receptor (CD32) 225 integral to membrane|plasma membrane IgG binding|receptor activity autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1) 19 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) GTGGTCATTGCGACTGCTGTA 0.502000 80 99 0 0 1 0 0 SOGA2 23255 broad.mit.edu 37 18 8828905 8828905 + Splice_Site SNP G G A TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr18:8828905G>A ENST00000359865.3 + 16 4864 c.e16-1 SOGA2_ENST00000306329.11_Splice_Site|SOGA2_ENST00000517570.1_Splice_Site|SOGA2_ENST00000518815.1_Intron|SOGA2_ENST00000400050.3_Splice_Site|SOGA2_ENST00000306285.7_Intron NM_015210.3 NP_056025.2 Q9Y4B5 CC165_HUMAN SOGA family member 2 GTTCTGTCCAGAACCAAACTG 0.483000 24 47 0 0 1 0 0 PAK7 57144 broad.mit.edu 37 20 9546591 9546591 + Silent SNP C C T TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr20:9546591C>T ENST00000378429.3 - 6 1977 c.1431G>A c.(1429-1431)gtG>gtA p.V477V PAK7_ENST00000378423.1_Silent_p.V477V|PAK7_ENST00000353224.5_Silent_p.V477V NM_020341.3 NP_065074.1 Q9P286 PAK7_HUMAN p21 protein (Cdc42/Rac)-activated kinase 7 477 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) CCATTTTCTTCACTGCAACTT 0.458000 53 83 0 0 1 0 0 SNX25 83891 broad.mit.edu 37 4 186168522 186168522 + Silent SNP T T G TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr4:186168522T>G ENST00000504273.1 + 2 306 c.12T>G c.(10-12)gcT>gcG p.A4A SNX25_ENST00000264694.8_Silent_p.A4A Q9H3E2 SNX25_HUMAN sorting nexin 25 4 PXA. cell communication|protein transport endosome membrane phosphatidylinositol binding|signal transducer activity NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2) 40 all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243) all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228) TGGATAAAGCTCTGAAAGAAG 0.308000 7 78 0 0 1 0 0 MIA3 375056 broad.mit.edu 37 1 222802495 222802495 + Missense_Mutation SNP G G A TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr1:222802495G>A ENST00000344922.5 + 4 1958 c.1933G>A c.(1933-1935)Gaa>Aaa p.E645K MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Missense_Mutation_p.E645K NM_198551.2 NP_940953.2 Q5JRA6 MIA3_HUMAN melanoma inhibitory activity family, member 3 645 exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing endoplasmic reticulum membrane|integral to membrane protein binding breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1) 80 GBM - Glioblastoma multiforme(131;0.0199) CAGAGAACTGGAAGACGAGGT 0.448000 57 71 0 0 1 0 0 KCNK1 3775 broad.mit.edu 37 1 233807161 233807161 + Missense_Mutation SNP T T G TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr1:233807161T>G ENST00000366621.3 + 3 1064 c.896T>G c.(895-897)cTg>cGg p.L299R KCNK1_ENST00000366620.1_Missense_Mutation_p.L183R|KCNK1_ENST00000472190.1_3'UTR NM_002245.3 NP_002236.1 O00180 KCNK1_HUMAN potassium channel, subfamily K, member 1 299 voltage-gated potassium channel complex inward rectifier potassium channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1) 11 all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175) Ibutilide(DB00308)|Quinidine(DB00908) CATGACCAACTGTCCTTCTCC 0.488000 16 34 0 0 1 0 0 PITX1 5307 broad.mit.edu 37 5 134365003 134365003 + Silent SNP G G A TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr5:134365003G>A ENST00000265340.7 - 3 827 c.411C>T c.(409-411)ttC>ttT p.F137F PITX1_ENST00000506438.1_Silent_p.F137F NM_002653.4 NP_002644.4 P78337 PITX1_HUMAN paired-like homeodomain 1 137 nucleolus sequence-specific DNA binding central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1) 14 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) READ - Rectum adenocarcinoma(2;0.0607) GCCGGTTCTTGAACCAGACCT 0.701000 38 53 0 0 1 0 0 DNM1P47 100216544 broad.mit.edu 37 15 102294702 102294702 + RNA SNP C C T TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr15:102294702C>T ENST00000561463.1 + 0 2748 GAGGCGTCGGCAGAGCAGGCA 0.607000 6 10 0 0 1 0 0 GALNS 2588 broad.mit.edu 37 16 88902658 88902658 + Missense_Mutation SNP G G A TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr16:88902658G>A ENST00000268695.5 - 6 672 c.584C>T c.(583-585)cCt>cTt p.P195L GALNS_ENST00000542788.1_Missense_Mutation_p.P120L NM_000512.4 NP_000503.1 P34059 GALNS_HUMAN galactosamine (N-acetyl)-6-sulfate sulfatase 195 lysosome metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8) 22 BRCA - Breast invasive adenocarcinoma(80;0.0496) Hyaluronidase(DB00070) CAGATTAATAGGAAATTCTTC 0.512000 11 12 0 0 1 0 0 ZNF862 643641 broad.mit.edu 37 7 149557915 149557915 + Missense_Mutation SNP G G C TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr7:149557915G>C ENST00000223210.4 + 7 1911 c.1666G>C c.(1666-1668)Gag>Cag p.E556Q NM_001099220.1 NP_001092690.1 O60290 ZN862_HUMAN zinc finger protein 862 556 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|nucleic acid binding|protein dimerization activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1) 34 GGCCAACATGGAGCACTTTTT 0.537000 23 47 0 0 1 0 0 RNF20 56254 broad.mit.edu 37 9 104312897 104312897 + Missense_Mutation SNP C C T TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr9:104312897C>T ENST00000389120.3 + 10 1192 c.1102C>T c.(1102-1104)Cgg>Tgg p.R368W NM_019592.5 NP_062538.5 Q5VTR2 BRE1A_HUMAN ring finger protein 20, E3 ubiquitin protein ligase 368 histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process nucleolus|ubiquitin ligase complex histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding p.R368W(1) breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311) GGTGGAATTGCGGAGTGCAGT 0.468000 4 179 0 0 1 0 0 EYA4 2070 broad.mit.edu 37 6 133802609 133802609 + Missense_Mutation SNP G G A rs144415484 TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr6:133802609G>A ENST00000367895.5 + 12 1443 c.979G>A c.(979-981)Gat>Aat p.D327N EYA4_ENST00000431403.2_Missense_Mutation_p.D327N|EYA4_ENST00000430974.2_Missense_Mutation_p.D279N|EYA4_ENST00000355167.3_Missense_Mutation_p.D327N|EYA4_ENST00000531901.1_Missense_Mutation_p.D333N|EYA4_ENST00000355286.6_Missense_Mutation_p.D304N|EYA4_ENST00000525849.1_Missense_Mutation_p.D304N|EYA4_ENST00000452339.2_Missense_Mutation_p.D273N NM_004100.4 NP_004091.3 O95677 EYA4_HUMAN eyes absent homolog 4 (Drosophila) 327 anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1) 48 Colorectal(23;0.221) GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152) AGGAGAGTTCGATACCATGCA 0.388000 15 93 0 0 1 0 0 ITGAV 3685 broad.mit.edu 37 2 187531923 187531923 + Missense_Mutation SNP G G A TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr2:187531923G>A ENST00000261023.3 + 23 2567 c.2293G>A c.(2293-2295)Gat>Aat p.D765N ITGAV_ENST00000433736.2_Missense_Mutation_p.D719N|ITGAV_ENST00000374907.3_Missense_Mutation_p.D729N|AC017101.10_ENST00000453665.1_RNA NM_002210.3 NP_002201.1 P06756 ITAV_HUMAN integrin, alpha V 765 angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance integrin complex receptor activity|transforming growth factor beta binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189) STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108) TCACAAAGTTGATCTTGCTGT 0.333000 22 43 0 0 1 0 0 ATP2B3 492 broad.mit.edu 37 X 152815068 152815068 + Silent SNP C C T TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chrX:152815068C>T ENST00000370186.1 + 9 1736 c.1410C>T c.(1408-1410)acC>acT p.T470T ATP2B3_ENST00000263519.4_Silent_p.T484T|ATP2B3_ENST00000393842.1_Silent_p.T470T|ATP2B3_ENST00000370181.2_Silent_p.T470T|ATP2B3_ENST00000349466.2_Silent_p.T484T|ATP2B3_ENST00000359149.3_Silent_p.T484T Q16720 AT2B3_HUMAN ATPase, Ca++ transporting, plasma membrane 3 484 ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3) 50 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) ACCGTATGACCGTGGTCCAGT 0.612000 57 123 0 0 1 0 0 PCDHB4 56131 broad.mit.edu 37 5 140501704 140501704 + Missense_Mutation SNP T T C TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr5:140501704T>C ENST00000194152.1 + 1 124 c.124T>C c.(124-126)Tcc>Ccc p.S42P NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 42 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGAGAGCGGCTCCTTTGTAGC 0.542000 20 40 0 0 1 0 0 TRRAP 8295 broad.mit.edu 37 7 98515126 98515126 + Missense_Mutation SNP C C T TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr7:98515126C>T ENST00000359863.4 + 20 2655 c.2446C>T c.(2446-2448)Cgg>Tgg p.R816W TRRAP_ENST00000355540.3_Missense_Mutation_p.R816W|TRRAP_ENST00000446306.3_Missense_Mutation_p.R815W NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 816 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity p.R816W(2) NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) CGTCCCTGTGCGGCTGAGCTC 0.577000 29 37 0 0 1 0 0 CIAO1 9391 broad.mit.edu 37 2 96933089 96933089 + Missense_Mutation SNP C C G TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr2:96933089C>G ENST00000488633.1 + 2 389 c.170C>G c.(169-171)tCt>tGt p.S57C CIAO1_ENST00000469320.1_3'UTR NM_004804.2 NP_004795.1 O76071 CIAO1_HUMAN cytosolic iron-sulfur protein assembly 1 57 chromosome segregation|iron-sulfur cluster assembly|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter MMXD complex protein binding endometrium(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1) 5 TCTGTCCTTTCTGAAGGCCAC 0.577000 92 112 0 0 1 0 0 KANK4 163782 broad.mit.edu 37 1 62739603 62739603 + Silent SNP T T C TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr1:62739603T>C ENST00000371153.4 - 3 1551 c.1173A>G c.(1171-1173)gtA>gtG p.V391V KANK4_ENST00000354381.3_Intron NM_181712.4 NP_859063.3 Q5T7N3 KANK4_HUMAN KN motif and ankyrin repeat domains 4 391 NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 81 CCAGTTGGGCTACAGTGAACT 0.527000 4 114 0 0 1 0 0 ZNF750 79755 broad.mit.edu 37 17 80790229 80790229 + Nonsense_Mutation SNP G G T TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr17:80790229G>T ENST00000269394.3 - 2 935 c.102C>A c.(100-102)tgC>tgA p.C34* TBCD_ENST00000539345.2_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000355528.4_Intron NM_024702.2 NP_078978.2 Q32MQ0 ZN750_HUMAN zinc finger protein 750 34 intracellular zinc ion binding NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 31 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0514)|all_epithelial(8;0.0748) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149) ACTTCTCATTGCAAGTAAAGG 0.413000 34 12 9.65021e-13 1.04774e-12 1 1 0 TNIP1 10318 broad.mit.edu 37 5 150422172 150422172 + Missense_Mutation SNP C C T TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr5:150422172C>T ENST00000389378.2 - 11 1651 c.1063G>A c.(1063-1065)Gag>Aag p.E355K TNIP1_ENST00000523338.1_Missense_Mutation_p.E355K|TNIP1_ENST00000524280.1_Missense_Mutation_p.E355K|TNIP1_ENST00000521591.1_Missense_Mutation_p.E355K|TNIP1_ENST00000520931.1_Missense_Mutation_p.E302K|TNIP1_ENST00000518977.1_Missense_Mutation_p.E355K|TNIP1_ENST00000523200.1_Missense_Mutation_p.E355K|TNIP1_ENST00000521423.1_Intron|TNIP1_ENST00000522226.1_Missense_Mutation_p.E355K|TNIP1_ENST00000315050.7_Missense_Mutation_p.E355K NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4 NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3 Q15025 TNIP1_HUMAN TNFAIP3 interacting protein 1 355 Interacts with Nef. defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation cytoplasm|nucleus protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3) 23 Medulloblastoma(196;0.0911)|all_hematologic(541;0.207) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGCTCCCGCTCGGCCTCCAGG 0.572000 27 29 0 0 1 0 0 SPEN 23013 broad.mit.edu 37 1 16255380 16255380 + Missense_Mutation SNP G G C TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr1:16255380G>C ENST00000375759.3 + 11 2849 c.2645G>C c.(2644-2646)cGa>cCa p.R882P NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 882 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) GTTTTGACTCGAGTGAAAGAG 0.463000 70 87 0 0 1 0 0 NXF1 10482 broad.mit.edu 37 11 62563597 62563597 + Missense_Mutation SNP C C T TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr11:62563597C>T ENST00000532297.1 - 17 2031 c.1402G>A c.(1402-1404)Gag>Aag p.E468K NXF1_ENST00000531709.2_3'UTR|NXF1_ENST00000294172.2_Missense_Mutation_p.E468K Q9UBU9 NXF1_HUMAN nuclear RNA export factor 1 468 NTF2. gene expression|interspecies interaction between organisms cytosol|nuclear speck nucleotide binding|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TTGGGCAACTCATTGAGGAAG 0.557000 24 46 0 0 1 0 0 HNRNPD 3184 broad.mit.edu 37 4 83280732 83280732 + Missense_Mutation SNP A A T TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr4:83280732A>T ENST00000313899.7 - 3 628 c.351T>A c.(349-351)ttT>ttA p.F117L HNRNPD_ENST00000541060.1_Intron|HNRNPD_ENST00000352301.4_Missense_Mutation_p.F98L|HNRNPD_ENST00000543098.1_Missense_Mutation_p.F65L|HNRNPD_ENST00000353341.4_Missense_Mutation_p.F117L NM_031370.2 NP_112738.1 Q14103 HNRPD_HUMAN heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa) 117 RRM 1. nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|RNA catabolic process|transcription, DNA-dependent cytosol|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding|telomeric DNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1) 7 CAAATTTGGAAAAGTAGTCCT 0.378000 43 43 0 0 1 0 0 APBA1 320 broad.mit.edu 37 9 72131808 72131808 + Missense_Mutation SNP C C G TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr9:72131808C>G ENST00000265381.4 - 2 541 c.319G>C c.(319-321)Gag>Cag p.E107Q NM_001163.3 NP_001154.2 Q02410 APBA1_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 1 107 axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission synaptic vesicle endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3) 37 TGCGCGCGCTCCGCATCGTAG 0.721000 7 16 0 0 1 0 0 CCT8L2 150160 broad.mit.edu 37 22 17072656 17072656 + Missense_Mutation SNP G G C TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr22:17072656G>C ENST00000359963.3 - 1 1044 c.785C>G c.(784-786)tCt>tGt p.S262C NM_014406.4 NP_055221.1 Q96SF2 TCPQM_HUMAN chaperonin containing TCP1, subunit 8 (theta)-like 2 262 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity p.S262C(1) breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) AGCAGGACTAGAAAGACGGGC 0.507000 61 100 0 0 1 0 0 GPR35 2859 broad.mit.edu 37 2 241569536 241569536 + Missense_Mutation SNP G G A TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr2:241569536G>A ENST00000319838.5 + 6 1109 c.167G>A c.(166-168)cGc>cAc p.R56H GPR35_ENST00000430267.1_Missense_Mutation_p.R56H|GPR35_ENST00000407714.1_Missense_Mutation_p.R56H|GPR35_ENST00000403859.1_Missense_Mutation_p.R56H|GPR35_ENST00000438013.2_Missense_Mutation_p.R87H NM_001195381.1 NP_001182310.1 Q9HC97 GPR35_HUMAN G protein-coupled receptor 35 56 integral to plasma membrane G-protein coupled receptor activity NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 17 all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238) Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031) ACGGAGACCCGCATCTACATG 0.642000 35 44 0 0 1 0 0 OR10C1 442194 broad.mit.edu 37 6 29408552 29408552 + Missense_Mutation SNP G G A TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr6:29408552G>A ENST00000444197.2 + 1 1470 c.760G>A c.(760-762)Gca>Aca p.A254T OR11A1_ENST00000377149.1_Intron NM_013941.3 NP_039229.3 Q96KK4 O10C1_HUMAN olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene) 254 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 CTATGGCACCGCACTCTTTAT 0.582000 5 361 0 0 1 0 0 MIR219A1 407002 broad.mit.edu 37 6 33175633 33175633 + RNA SNP G G C TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr6:33175633G>C ENST00000362166.1 + 0 22 NR_029633.1 CGCGGCTCCTGATTGTCCAAA 0.657000 11 8 0 0 1 0 0 RRP1B 23076 broad.mit.edu 37 21 45107797 45107797 + Silent SNP G G A rs143773984 byFrequency TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr21:45107797G>A ENST00000340648.4 + 13 1659 c.1542G>A c.(1540-1542)ccG>ccA p.P514P NM_015056.2 NP_055871.1 Q14684 RRP1B_HUMAN ribosomal RNA processing 1B 514 rRNA processing cytosol|nucleolus|preribosome, small subunit precursor protein binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1) 21 STAD - Stomach adenocarcinoma(101;0.178) GAGGGTCCCCGACAGGTGGAG 0.607000 13 68 0 0 1 0 0 EFHC2 80258 broad.mit.edu 37 X 44107644 44107644 + Missense_Mutation SNP C C G TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chrX:44107644C>G ENST00000420999.1 - 7 1068 c.985G>C c.(985-987)Gac>Cac p.D329H NM_025184.3 NP_079460.2 Q5JST6 EFHC2_HUMAN EF-hand domain (C-terminal) containing 2 329 DM10 2. calcium ion binding NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 29 AACTCTTGGTCTACTTTTCCT 0.413000 5 3 0 0 1 0 0 ZNF48 197407 broad.mit.edu 37 16 30409140 30409140 + Missense_Mutation SNP G G A TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr16:30409140G>A ENST00000320159.2 + 2 945 c.569G>A c.(568-570)cGc>cAc p.R190H NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2 NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2 Q96MX3 ZNF48_HUMAN zinc finger protein 48 190 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1) 21 GCTGGTGAGCGCCCCACTATC 0.597000 3 45 0 0 1 0 0 PPP4R4 57718 broad.mit.edu 37 14 94642442 94642442 + Missense_Mutation SNP G G C TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr14:94642442G>C ENST00000304338.3 + 2 323 c.169G>C c.(169-171)Gaa>Caa p.E57Q PPP4R4_ENST00000555690.1_3'UTR|PPP4R4_ENST00000328839.3_Missense_Mutation_p.E57Q NM_058237.1 NP_478144.1 Q6NUP7 PP4R4_HUMAN protein phosphatase 4, regulatory subunit 4 57 cytoplasm|protein serine/threonine phosphatase complex protein binding NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2) 40 CAGTGATATTGAAAGGGCTGT 0.383000 30 16 0 0 1 0 0 CIAO1 9391 broad.mit.edu 37 2 96933415 96933415 + Frame_Shift_Del DEL C C - TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr2:96933415delC ENST00000488633.1 + 3 560 c.341delC c.(340-342)gcfs p.A114fs CIAO1_ENST00000469320.1_3'UTR NM_004804.2 NP_004795.1 O76071 CIAO1_HUMAN cytosolic iron-sulfur protein assembly 1 114 chromosome segregation|iron-sulfur cluster assembly|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter MMXD complex protein binding endometrium(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1) 5 GTGGCTTGGGCCCCATCTGGC 0.542 27 45 --- --- --- --- FOXC1 2296 broad.mit.edu 37 6 1611463 1611465 + In_Frame_Del DEL CAG CAG - TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr6:1611463_1611465delCAG ENST00000380874.2 + 1 783_785 c.783_785delCAG c.(781-786)gac>ga p.DS261del NM_001453.2 NP_001444.2 Q12948 FOXC1_HUMAN forkhead box C1 261 anti-apoptosis|artery morphogenesis|blood vessel remodeling|brain development|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|germ cell migration|glycosaminoglycan metabolic process|lacrimal gland development|lymphangiogenesis|metanephros development|negative regulation of mitotic cell cycle|neural crest cell fate commitment|Notch signaling pathway|odontogenesis of dentine-containing tooth|ossification|ovarian follicle development|paraxial mesodermal cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis nuclear heterochromatin|transcription factor complex chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 8 Ovarian(93;0.0733) all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895) Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168) AGAGCCCCGACAGCAGCAGCAGC 0.793 2 4 --- --- --- --- RRAGD 58528 broad.mit.edu 37 6 90121645 90121647 + In_Frame_Del DEL TCC TCC - TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr6:90121645_90121647delTCC ENST00000369415.4 - 1 342_344 c.66_68delGGA c.(64-69)gat>ga p.ED22del RRAGD_ENST00000359203.2_5'UTR NM_021244.4 NP_067067.1 Q9NQL2 RRAGD_HUMAN Ras-related GTP binding D 22 cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade lysosome|nucleus GTP binding|protein heterodimerization activity breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2) 15 all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139) BRCA - Breast invasive adenocarcinoma(108;0.0144) CACCAGctcatcctcctcctcct 0.754 2 4 --- --- --- --- PHACTR2 9749 broad.mit.edu 37 6 144081695 144081696 + Frame_Shift_Ins INS - - A TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr6:144081695_144081696insA ENST00000427704.2 + 5 709_710 c.579_580insA c.(577-582)ataaaafs p.IK193fs PHACTR2_ENST00000305766.6_Intron|PHACTR2_ENST00000367584.4_Intron|PHACTR2_ENST00000440869.2_Frame_Shift_Ins_p.IK204fs|PHACTR2_ENST00000367582.3_Intron NM_001100166.1|NM_014721.2 NP_001093636.1|NP_055536.2 O75167 PHAR2_HUMAN phosphatase and actin regulator 2 193 actin binding|protein phosphatase inhibitor activity NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 30 OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386) TGCCTCCCATTAAAAAAAATAC 0.569 7 134 --- --- --- --- XKR5 389610 broad.mit.edu 37 8 6679315 6679316 + RNA DEL CC CC - rs58387909 by1000genomes TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr8:6679315_6679316delCC ENST00000518724.1 - 0 958 Q6UX68 XKR5_HUMAN XK, Kell blood group complex subunit-related family, member 5 integral to membrane endometrium(1)|large_intestine(1)|lung(1) 3 STAD - Stomach adenocarcinoma(24;0.0984) READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166) cacacacacaccccccacacac 0.406 3 6 --- --- --- --- GOT1L1 137362 broad.mit.edu 37 8 37791833 37791834 + Frame_Shift_Ins INS - - T TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr8:37791833_37791834insT ENST00000307599.4 - 9 1342_1343 c.1243_1244insA c.(1243-1245)actfs p.T415fs NM_152413.2 NP_689626.2 Q8NHS2 AATC2_HUMAN glutamic-oxaloacetic transaminase 1-like 1 415 biosynthetic process|cellular amino acid metabolic process cytoplasm pyridoxal phosphate binding|transaminase activity central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1) 14 Colorectal(12;0.00627) Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;1.37e-11) TCCAATCAGTGTTTTTTTTTCC 0.371 7 80 --- --- --- --- RAB2A 5862 broad.mit.edu 37 8 61533317 61533317 + Frame_Shift_Del DEL G G - TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr8:61533317delG ENST00000262646.7 + 8 979 c.628delG c.(628-630)gcfs p.G210fs RAB2A_ENST00000531289.1_Frame_Shift_Del_p.G186fs|RAB2A_ENST00000529579.1_Frame_Shift_Del_p.A174fs|RAB2A_ENST00000530071.1_3'UTR NM_002865.2 NP_002856.1 P61019 RAB2A_HUMAN RAB2A, member RAS oncogene family 210 ER to Golgi vesicle-mediated transport|protein transport|small GTPase mediated signal transduction endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|melanosome GDP binding|GTP binding|GTPase activity endometrium(1)|large_intestine(1)|lung(4) 6 BRCA - Breast invasive adenocarcinoma(89;0.0805) GGCTGGGGGCGGCTGCTGTTG 0.502 22 37 --- --- --- --- HECTD4 283450 broad.mit.edu 37 12 112628669 112628669 + Frame_Shift_Del DEL T T - TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr12:112628669delT ENST00000550722.1 - 60 9350 c.8955delA c.(8953-8955)tcfs p.S2985fs HECTD4_ENST00000430131.2_Frame_Shift_Del_p.S2709fs|HECTD4_ENST00000377560.5_Frame_Shift_Del_p.S2959fs NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 CACTGTCCTCTGATTTCCAGG 0.602 2 4 --- --- --- --- RP11-160E2.17 0 broad.mit.edu 37 17 18988562 18988562 + RNA DEL T T - TCGA-KU-A6H7-06A-21D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx d10e2807-bbf6-43fc-923e-7fef0bb91f32 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr17:18988562delT ENST00000442355.2 + 0 272 CTGATGTGTGTTTTTTTTTTT 0.279 3 4 --- --- --- ---