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 TEX30 93081 broad.mit.edu 37 13 103419661 103419661 + Silent SNP G G A TCGA-EL-A3H7-01A-11D-A21A-08 TCGA-EL-A3H7-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c8615-e53f-450b-9974-468904b63294 a54892b4-76e9-462a-a1c1-2495c9d2f8c9 g.chr13:103419661G>A ENST00000376019.1 - 3 1179 c.343C>T c.(343-345)Ctg>Ttg p.L115L TEX30_ENST00000376021.4_Silent_p.L115L|TEX30_ENST00000376027.1_Intron|TEX30_ENST00000376032.4_Silent_p.L156L|TEX30_ENST00000376029.3_Intron|TEX30_ENST00000376022.1_Intron Q5JUR7 CM027_HUMAN testis expressed 30 156 lung(1)|urinary_tract(1) 2 GACACAAACAGTACAGGCTCT 0.403000 3 88 0 0 0.184627 0 0 MT-ND4 4538 broad.mit.edu 37 MT 11907 11907 + Missense_Mutation SNP T T C TCGA-EL-A3H7-01A-11D-A21A-08 TCGA-EL-A3H7-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c8615-e53f-450b-9974-468904b63294 a54892b4-76e9-462a-a1c1-2495c9d2f8c9 g.chrM:11907T>C ENST00000361381.2 + 1 1148 c.1148T>C c.(1147-1149)gTa>gCa p.383_383insA mitochondrially encoded NADH dehydrogenase 4 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1) 13 CTCTGTGCTAGTAACCACGTT 0.443000 12 2 0 0 0.520397 0 0 NACA 4666 broad.mit.edu 37 12 57111912 57111912 + Silent SNP G G A rs2926744 TCGA-EL-A3H7-01A-11D-A21A-08 TCGA-EL-A3H7-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c8615-e53f-450b-9974-468904b63294 a54892b4-76e9-462a-a1c1-2495c9d2f8c9 g.chr12:57111912G>A ENST00000454682.1 - 3 3683 c.3402C>T c.(3400-3402)ccC>ccT p.P1134P NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 CTTTTGGGGAGGGAGGAGTTG 0.642000 T BCL6 NHL 6 70 0 0 0.248553 0 0 TM9SF4 9777 broad.mit.edu 37 20 30753110 30753110 + Missense_Mutation SNP G G A TCGA-EL-A3H7-01A-11D-A21A-08 TCGA-EL-A3H7-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c8615-e53f-450b-9974-468904b63294 a54892b4-76e9-462a-a1c1-2495c9d2f8c9 g.chr20:30753110G>A ENST00000217315.5 + 18 2081 c.1741G>A c.(1741-1743)Gag>Aag p.E581K TM9SF4_ENST00000398022.2_Missense_Mutation_p.E598K Q92544 TM9S4_HUMAN transmembrane 9 superfamily protein member 4 598 integral to membrane central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) GGACATCGTGGAGTTCATCCC 0.562000 30 191 0 0 0.827153 0 0 DMPK 1760 broad.mit.edu 37 19 46278224 46278224 + Silent SNP G G A rs138445739 TCGA-EL-A3H7-01A-11D-A21A-08 TCGA-EL-A3H7-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c8615-e53f-450b-9974-468904b63294 a54892b4-76e9-462a-a1c1-2495c9d2f8c9 g.chr19:46278224G>A ENST00000600757.1 - 8 1917 c.1230C>T c.(1228-1230)taC>taT p.Y410Y DMPK_ENST00000458663.2_Silent_p.Y400Y|DMPK_ENST00000447742.2_Silent_p.Y400Y|DMPK_ENST00000343373.4_Silent_p.Y415Y|DMPK_ENST00000354227.5_Silent_p.Y400Y|DMPK_ENST00000595361.1_5'UTR|DMPK_ENST00000291270.4_Silent_p.Y405Y Q09013 DMPK_HUMAN dystrophia myotonica-protein kinase 415 AGC-kinase C-terminal. regulation of heart contraction ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2) 16 Ovarian(192;0.0308)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24) CCATGCAGGAGTAGGAGTAGC 0.617000 3 70 0 0 0.150653 0 0 FAM126B 285172 broad.mit.edu 37 2 201853010 201853010 + Silent SNP G G T TCGA-EL-A3H7-01A-11D-A21A-08 TCGA-EL-A3H7-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c8615-e53f-450b-9974-468904b63294 a54892b4-76e9-462a-a1c1-2495c9d2f8c9 g.chr2:201853010G>T ENST00000418596.2 - 11 1153 c.966C>A c.(964-966)atC>atA p.I322I AC005037.3_ENST00000413848.1_RNA NM_173822.3 NP_776183.1 Q8IXS8 F126B_HUMAN family with sequence similarity 126, member B 322 intracellular endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 16 TATGACGACGGATTGAAGCTG 0.428000 4 182 0.150653 0.162469 0.150653 1 0 ZNF208 7757 broad.mit.edu 37 19 22155282 22155282 + Missense_Mutation SNP T T C TCGA-EL-A3H7-01A-11D-A21A-08 TCGA-EL-A3H7-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c8615-e53f-450b-9974-468904b63294 a54892b4-76e9-462a-a1c1-2495c9d2f8c9 g.chr19:22155282T>C ENST00000397126.4 - 4 2702 c.2554A>G c.(2554-2556)Aag>Gag p.K852E ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) TGAATTACCTTATGTTTAGTA 0.373000 3 65 0 0 0.248553 0 0 TTLL5 23093 broad.mit.edu 37 14 76259282 76259282 + Missense_Mutation SNP C C T TCGA-EL-A3H7-01A-11D-A21A-08 TCGA-EL-A3H7-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c8615-e53f-450b-9974-468904b63294 a54892b4-76e9-462a-a1c1-2495c9d2f8c9 g.chr14:76259282C>T ENST00000298832.9 + 27 3215 c.3010C>T c.(3010-3012)Cat>Tat p.H1004Y TTLL5_ENST00000557636.1_Missense_Mutation_p.H1019Y|TTLL5_ENST00000556893.1_Missense_Mutation_p.H555Y|TTLL5_ENST00000554510.1_Missense_Mutation_p.H513Y NM_015072.4 NP_055887.3 Q6EMB2 TTLL5_HUMAN tubulin tyrosine ligase-like family, member 5 1004 protein modification process|transcription, DNA-dependent centrosome|cilium|microtubule basal body|nucleus tubulin-tyrosine ligase activity NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2) 50 BRCA - Breast invasive adenocarcinoma(234;0.029) AAACAAGCATCATTCAGGAAT 0.378000 12 37 0 0 0.457914 0 0 RP11-1166P10.6 0 broad.mit.edu 37 16 32070612 32070612 + RNA SNP A A C TCGA-EL-A3H7-01A-11D-A21A-08 TCGA-EL-A3H7-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c8615-e53f-450b-9974-468904b63294 a54892b4-76e9-462a-a1c1-2495c9d2f8c9 g.chr16:32070612A>C ENST00000566806.1 - 0 499 GGTCTCCTGCAAGGCTTCTGG 0.552000 3 86 0 0 0.115264 0 0 PEX10 5192 broad.mit.edu 37 1 2341873 2341873 + Missense_Mutation SNP C C G TCGA-EL-A3H7-01A-11D-A21A-08 TCGA-EL-A3H7-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c8615-e53f-450b-9974-468904b63294 a54892b4-76e9-462a-a1c1-2495c9d2f8c9 g.chr1:2341873C>G ENST00000288774.3 - 2 157 c.130G>C c.(130-132)Gag>Cag p.E44Q PEX10_ENST00000447513.2_Missense_Mutation_p.E44Q|PEX10_ENST00000507596.1_Missense_Mutation_p.E44Q NM_153818.1 NP_722540.1 O60683 PEX10_HUMAN peroxisomal biogenesis factor 10 44 protein import into peroxisome matrix integral to peroxisomal membrane|peroxisomal membrane protein binding|protein C-terminus binding|zinc ion binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2) 7 all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00102)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0169)|Lung(427;0.199) TTCCTCCACTCCAGCCACTTC 0.592000 4 72 0 0 0.278610 0 0 RRN3P2 0 broad.mit.edu 37 16 29110438 29110438 + RNA SNP T T C TCGA-EL-A3H7-01A-11D-A21A-08 TCGA-EL-A3H7-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c8615-e53f-450b-9974-468904b63294 a54892b4-76e9-462a-a1c1-2495c9d2f8c9 g.chr16:29110438T>C ENST00000564580.1 + 0 1111 p.L368P(6) TTGCAGTATCTTCAGAGTCTG 0.328000 3 78 0 0 0.115264 0 0 MUC5B 727897 broad.mit.edu 37 11 1281040 1281040 + Missense_Mutation SNP G G A TCGA-EL-A3H7-01A-11D-A21A-08 TCGA-EL-A3H7-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c8615-e53f-450b-9974-468904b63294 a54892b4-76e9-462a-a1c1-2495c9d2f8c9 g.chr11:1281040G>A ENST00000447027.1 + 45 16835 c.16777G>A c.(16777-16779)Gcc>Acc p.A5593T MUC5B_ENST00000529681.1_Missense_Mutation_p.A5590T Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 5590 cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CGTCCAGACCGCCTGCCTCAC 0.657000 10 119 0 0 0.411799 0 0 FAM120C 54954 broad.mit.edu 37 X 54209023 54209023 + Missense_Mutation SNP G G T rs144201658 TCGA-EL-A3H7-01A-11D-A21A-08 TCGA-EL-A3H7-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c8615-e53f-450b-9974-468904b63294 a54892b4-76e9-462a-a1c1-2495c9d2f8c9 g.chrX:54209023G>T ENST00000375180.2 - 1 665 c.609C>A c.(607-609)aaC>aaA p.N203K FAM120C_ENST00000477084.1_Missense_Mutation_p.N203K|FAM120C_ENST00000497680.1_5'UTR|FAM120C_ENST00000328235.4_Missense_Mutation_p.N203K NM_017848.4 NP_060318.3 Q9NX05 F120C_HUMAN family with sequence similarity 120C 203 breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 GGGTGCCCTTGTTGCCCACGT 0.706000 20 39 7.41877e-09 8.87027e-09 0.608945 1 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EL-A3H7-01A-11D-A21A-08 TCGA-EL-A3H7-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c8615-e53f-450b-9974-468904b63294 a54892b4-76e9-462a-a1c1-2495c9d2f8c9 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 27 52 0 0 0.760397 0 0 ADCY8 114 broad.mit.edu 37 8 132002665 132002665 + Missense_Mutation SNP G G A TCGA-EL-A3H7-01A-11D-A21A-08 TCGA-EL-A3H7-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c8615-e53f-450b-9974-468904b63294 a54892b4-76e9-462a-a1c1-2495c9d2f8c9 g.chr8:132002665G>A ENST00000286355.5 - 2 3176 c.1084C>T c.(1084-1086)Cgc>Tgc p.R362C ADCY8_ENST00000377928.3_Missense_Mutation_p.R362C NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 362 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding p.R362S(1) NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) GTCTCCAGGCGCAGCCTGGCC 0.502000 HNSCC(32;0.087) 4 159 0 0 0.184627 0 0 ZNF57 126295 broad.mit.edu 37 19 2917961 2917961 + Missense_Mutation SNP C C T TCGA-EL-A3H7-01A-11D-A21A-08 TCGA-EL-A3H7-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c8615-e53f-450b-9974-468904b63294 a54892b4-76e9-462a-a1c1-2495c9d2f8c9 g.chr19:2917961C>T ENST00000306908.5 + 4 1490 c.1342C>T c.(1342-1344)Cat>Tat p.H448Y AC006277.2_ENST00000520090.2_RNA|ZNF57_ENST00000523428.1_Missense_Mutation_p.H416Y NM_173480.2 NP_775751.1 Q68EA5 ZNF57_HUMAN zinc finger protein 57 448 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18) AGAGCAGCTCCATAAATGTGA 0.443000 4 85 0 0 0.217242 0 0 GPT 2875 broad.mit.edu 37 8 145732033 145732033 + Silent SNP C C T TCGA-EL-A3H7-01A-11D-A21A-08 TCGA-EL-A3H7-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c8615-e53f-450b-9974-468904b63294 a54892b4-76e9-462a-a1c1-2495c9d2f8c9 g.chr8:145732033C>T ENST00000394955.2 + 9 1504 c.1281C>T c.(1279-1281)cgC>cgT p.R427R GPT_ENST00000528431.1_Silent_p.R427R NM_005309.2 NP_005300.1 P24298 ALAT1_HUMAN glutamic-pyruvate transaminase (alanine aminotransferase) 427 gluconeogenesis cytosol 1-aminocyclopropane-1-carboxylate synthase activity|L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1) 5 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) CGGTGGAGCGCGCTCAGGTCA 0.731000 7 9 0 0 0.278610 0 0 BRD3 8019 broad.mit.edu 37 9 136915622 136915622 + Silent SNP G G A rs142203601 byFrequency TCGA-EL-A3H7-01A-11D-A21A-08 TCGA-EL-A3H7-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c8615-e53f-450b-9974-468904b63294 a54892b4-76e9-462a-a1c1-2495c9d2f8c9 g.chr9:136915622G>A ENST00000303407.7 - 5 773 c.588C>T c.(586-588)atC>atT p.I196I BRD3_ENST00000371834.2_Silent_p.I196I|BRD3_ENST00000357885.2_Silent_p.I196I NM_007371.3 NP_031397.1 Q15059 BRD3_HUMAN bromodomain containing 3 196 nucleus protein binding BRD3/C15orf55(3) kidney(1)|skin(1)|stomach(4) 6 OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07) GGGTGGCAGCGATGACGGGCG 0.662000 T C15orf55 lethal midline carcinoma of young people 15 214 0 0 0.592651 0 0 IFNAR2 3455 broad.mit.edu 37 21 34635187 34635187 + Missense_Mutation SNP G G C TCGA-EL-A3H7-01A-11D-A21A-08 TCGA-EL-A3H7-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c8615-e53f-450b-9974-468904b63294 a54892b4-76e9-462a-a1c1-2495c9d2f8c9 g.chr21:34635187G>C ENST00000342136.4 + 9 1256 c.930G>C c.(928-930)aaG>aaC p.K310N AP000295.9_ENST00000433395.2_Intron|IFNAR2_ENST00000382241.3_Missense_Mutation_p.K310N|IFNAR2_ENST00000342101.3_3'UTR|IFNAR2_ENST00000404220.3_3'UTR P48551 INAR2_HUMAN interferon (alpha, beta and omega) receptor 2 310 JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway extracellular region|extracellular space|integral to plasma membrane protein kinase binding|type I interferon binding|type I interferon receptor activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 11 Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022) TCAACAGAAAGAAGAAAGTGT 0.428000 18 127 0 0 0.639603 0 0 INPP5F 22876 broad.mit.edu 37 10 121586462 121586462 + Missense_Mutation SNP T T C TCGA-EL-A3H7-01A-11D-A21A-08 TCGA-EL-A3H7-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c8615-e53f-450b-9974-468904b63294 a54892b4-76e9-462a-a1c1-2495c9d2f8c9 g.chr10:121586462T>C ENST00000361976.2 + 20 2735 c.2569T>C c.(2569-2571)Tca>Cca p.S857P INPP5F_ENST00000369080.3_Missense_Mutation_p.S247P NM_014937.3 NP_055752.1 Q9Y2H2 SAC2_HUMAN inositol polyphosphate-5-phosphatase F 857 phosphoric ester hydrolase activity breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 42 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158) AGATAATGACTCATACCACTC 0.408000 47 78 0 0 0.870114 0 0 RRN3P3 0 broad.mit.edu 37 16 22448598 22448598 + RNA SNP T T C TCGA-EL-A3H7-01A-11D-A21A-08 TCGA-EL-A3H7-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c8615-e53f-450b-9974-468904b63294 a54892b4-76e9-462a-a1c1-2495c9d2f8c9 g.chr16:22448598T>C ENST00000551766.1 - 0 438 NR_027460.1 gcctcctccttctcctccttc 0.751000 2 4 0 0 0.115264 0 0 RNF216 54476 broad.mit.edu 37 7 5662664 5662664 + Missense_Mutation SNP G G T TCGA-EL-A3H7-01A-11D-A21A-08 TCGA-EL-A3H7-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c8615-e53f-450b-9974-468904b63294 a54892b4-76e9-462a-a1c1-2495c9d2f8c9 g.chr7:5662664G>T ENST00000425013.2 - 17 2652 c.2428C>A c.(2428-2430)Cct>Act p.P810T RNF216_ENST00000389902.3_Missense_Mutation_p.P867T|RNF216_ENST00000469375.1_5'UTR NM_207111.3|NM_207116.2 NP_996994.1|NP_996999.1 Q9NWF9 RN216_HUMAN ring finger protein 216 810 Pro-rich. apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production cytoplasm|nucleus ligase activity|protein binding|zinc ion binding FBXL18/RNF216(2) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4) 33 Ovarian(82;0.07) UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13) CGCACGGGAGGCAGGGGGAAG 0.647000 54 110 4.33383e-22 5.29691e-22 0.870114 1 0 PCDHA8 0 broad.mit.edu 37 5 140222759 140222759 + Missense_Mutation SNP C C G TCGA-EL-A3H7-01A-11D-A21A-08 TCGA-EL-A3H7-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c8615-e53f-450b-9974-468904b63294 a54892b4-76e9-462a-a1c1-2495c9d2f8c9 g.chr5:140222759C>G ENST00000531613.1 + 1 1853 c.1853C>G c.(1852-1854)cCt>cGt p.P618R PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.P618R NM_018911.2 NP_061734.1 NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCAAGCAGCCCTCGCATCCCG 0.677000 8 223 0 0 0.361761 0 0 YY1 7528 broad.mit.edu 37 14 100743846 100743846 + Missense_Mutation SNP G G T TCGA-EL-A3H7-01A-11D-A21A-08 TCGA-EL-A3H7-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c8615-e53f-450b-9974-468904b63294 a54892b4-76e9-462a-a1c1-2495c9d2f8c9 g.chr14:100743846G>T ENST00000262238.4 + 5 1414 c.1154G>T c.(1153-1155)tGc>tTc p.C385F NM_003403.3 NP_003394.1 P25490 TYY1_HUMAN YY1 transcription factor 385 Involved in masking transactivation domain. cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis Ino80 complex|nuclear matrix|plasma membrane four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding p.C385F(1) cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1) 11 Melanoma(154;0.152) CCCTATGTGTGCCCCTTCGAT 0.463000 6 83 0.0293803 0.0323184 0.248553 1 0 INTS2 57508 broad.mit.edu 37 17 59989322 59989322 + Silent SNP G G C TCGA-EL-A3H7-01A-11D-A21A-08 TCGA-EL-A3H7-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c8615-e53f-450b-9974-468904b63294 a54892b4-76e9-462a-a1c1-2495c9d2f8c9 g.chr17:59989322G>C ENST00000444766.3 - 6 858 c.783C>G c.(781-783)gcC>gcG p.A261A INTS2_ENST00000251334.6_Silent_p.A253A NM_020748.2 NP_065799.1 Q9H0H0 INT2_HUMAN integrator complex subunit 2 261 snRNA processing integral to membrane|integrator complex|nuclear membrane protein binding NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 38 GGACCTTGAGGGCCTGAGAAG 0.438000 9 120 0 0 0.479597 0 0 KLF6 1316 broad.mit.edu 37 10 3824179 3824179 + Silent SNP G G A TCGA-EL-A3H7-01A-11D-A21A-08 TCGA-EL-A3H7-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c8615-e53f-450b-9974-468904b63294 a54892b4-76e9-462a-a1c1-2495c9d2f8c9 g.chr10:3824179G>A ENST00000497571.1 - 2 590 c.330C>T c.(328-330)agC>agT p.S110S KLF6_ENST00000542957.1_Silent_p.S110S|KLF6_ENST00000173785.4_5'UTR|KLF6_ENST00000469435.1_Silent_p.S110S NM_001160124.1|NM_001300.5 NP_001153596.1|NP_001291.3 Q99612 KLF6_HUMAN Kruppel-like factor 6 110 B cell differentiation nucleus zinc ion binding breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Colorectal(1;0.238) CAGAGGATTCGCTGCTGACAT 0.517000 OREG0019980 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 298 0 0 0.500413 0 0 SLC15A1 6564 broad.mit.edu 37 13 99354751 99354751 + Silent SNP T T C TCGA-EL-A3H7-01A-11D-A21A-08 TCGA-EL-A3H7-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c8615-e53f-450b-9974-468904b63294 a54892b4-76e9-462a-a1c1-2495c9d2f8c9 g.chr13:99354751T>C ENST00000376503.5 - 18 1504 c.1449A>G c.(1447-1449)aaA>aaG p.K483K NM_005073.3 NP_005064.1 P46059 S15A1_HUMAN solute carrier family 15 (oligopeptide transporter), member 1 483 digestion|protein transport integral to plasma membrane|membrane fraction peptide:hydrogen symporter activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000) CATTTTCCCCTTTTTCTGGCT 0.284000 3 118 0 0 0.184627 0 0 PRDM9 56979 broad.mit.edu 37 5 23526999 23526999 + Missense_Mutation SNP C C G TCGA-EL-A3H7-01A-11D-A21A-08 TCGA-EL-A3H7-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c8615-e53f-450b-9974-468904b63294 a54892b4-76e9-462a-a1c1-2495c9d2f8c9 g.chr5:23526999C>G ENST00000296682.3 + 11 1984 c.1802C>G c.(1801-1803)aCa>aGa p.T601R NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 601 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding p.T601R(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 CACCAGAGGACACACACAGGG 0.597000 HNSCC(3;0.000094) 4 169 0 0 0.217242 0 0 RFPL1S 0 broad.mit.edu 37 22 29833529 29833529 + RNA SNP A A G TCGA-EL-A3H7-01A-11D-A21A-08 TCGA-EL-A3H7-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c8615-e53f-450b-9974-468904b63294 a54892b4-76e9-462a-a1c1-2495c9d2f8c9 g.chr22:29833529A>G ENST00000461286.2 - 0 4847 NR_002727.2 AACTGGAGATATATCACCAGT 0.348000 3 4 0 0 0.115264 0 0 SETBP1 26040 broad.mit.edu 37 18 42530643 42530643 + Missense_Mutation SNP A A T TCGA-EL-A3H7-01A-11D-A21A-08 TCGA-EL-A3H7-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c8615-e53f-450b-9974-468904b63294 a54892b4-76e9-462a-a1c1-2495c9d2f8c9 g.chr18:42530643A>T ENST00000282030.5 + 4 1634 c.1338A>T c.(1336-1338)gaA>gaT p.E446D NM_015559.2 NP_056374.2 Q9Y6X0 SETBP_HUMAN SET binding protein 1 446 nucleus DNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 104 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) TGAGCAGTGAAGTAGTTAACA 0.453000 Schinzel-Giedion syndrome 6 98 0 0 0.248553 0 0 CCDC15 80071 broad.mit.edu 37 11 124857562 124857562 + Silent SNP A A G TCGA-EL-A3H7-01A-11D-A21A-08 TCGA-EL-A3H7-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c8615-e53f-450b-9974-468904b63294 a54892b4-76e9-462a-a1c1-2495c9d2f8c9 g.chr11:124857562A>G ENST00000529051.1 + 8 1699 c.1440A>G c.(1438-1440)ttA>ttG p.L480L CCDC15_ENST00000344762.5_Silent_p.L480L Q0P6D6 CCD15_HUMAN coiled-coil domain containing 15 480 centrosome central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1) 23 all_hematologic(175;0.215) Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413) AGAATTTTTTATCTAGAGACC 0.408000 3 109 0 0 0.184627 0 0 TTN 7273 broad.mit.edu 37 2 179579858 179579858 + Silent SNP G G A TCGA-EL-A3H7-01A-11D-A21A-08 TCGA-EL-A3H7-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c8615-e53f-450b-9974-468904b63294 a54892b4-76e9-462a-a1c1-2495c9d2f8c9 g.chr2:179579858G>A ENST00000589042.1 - 90 26279 c.26055C>T c.(26053-26055)agC>agT p.S8685S TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.S7441S|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.S8368S NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8368 Ig-like 69. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACTTCTTGCCGCTCCTAAGTT 0.443000 8 290 0 0 0.361761 0 0 PRDM10 56980 broad.mit.edu 37 11 129812425 129812425 + Missense_Mutation SNP G G A TCGA-EL-A3H7-01A-11D-A21A-08 TCGA-EL-A3H7-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c8615-e53f-450b-9974-468904b63294 a54892b4-76e9-462a-a1c1-2495c9d2f8c9 g.chr11:129812425G>A ENST00000358825.5 - 7 1093 c.862C>T c.(862-864)Cgg>Tgg p.R288W PRDM10_ENST00000423662.2_Missense_Mutation_p.R202W|PRDM10_ENST00000526082.1_Missense_Mutation_p.R202W|PRDM10_ENST00000528746.1_Missense_Mutation_p.R262W|PRDM10_ENST00000360871.3_Missense_Mutation_p.R288W|PRDM10_ENST00000304538.6_Missense_Mutation_p.R202W NM_020228.2 NP_064613.2 Q9NQV6 PRD10_HUMAN PR domain containing 10 288 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2) 48 all_hematologic(175;0.0537) Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185) TGGGCTGGCCGTACAAACATC 0.453000 4 120 0 0 0.248553 0 0 ABHD4 63874 broad.mit.edu 37 14 23075393 23075393 + Missense_Mutation SNP G G C TCGA-EL-A3H7-01A-11D-A21A-08 TCGA-EL-A3H7-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c8615-e53f-450b-9974-468904b63294 a54892b4-76e9-462a-a1c1-2495c9d2f8c9 g.chr14:23075393G>C ENST00000428304.2 + 5 776 c.706G>C c.(706-708)Gat>Cat p.D236H ABHD4_ENST00000544562.1_3'UTR NM_022060.2 NP_071343.2 Q8TB40 ABHD4_HUMAN abhydrolase domain containing 4 236 lipid catabolic process hydrolase activity breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(3)|prostate(1) 14 all_cancers(95;5.49e-05) GBM - Glioblastoma multiforme(265;0.0153) CTTTGAAGATGATACCATATC 0.517000 3 28 0 0 0.150653 0 0 FAM182B 0 broad.mit.edu 37 20 25848614 25848614 + Translation_Start_Site SNP C C A rs144456407 by1000genomes TCGA-EL-A3H7-01A-11D-A21A-08 TCGA-EL-A3H7-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c8615-e53f-450b-9974-468904b63294 a54892b4-76e9-462a-a1c1-2495c9d2f8c9 g.chr20:25848614C>A ENST00000376404.2 - 0 172 FAM182B_ENST00000478164.1_5'UTR lung(1) 1 ccgggcaggcctgaggctggg 0.667000 3 18 0.00909568 0.0102094 0.150653 1 0 USP10 9100 broad.mit.edu 37 16 84792342 84792342 + Missense_Mutation SNP C C G TCGA-EL-A3H7-01A-11D-A21A-08 TCGA-EL-A3H7-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c8615-e53f-450b-9974-468904b63294 a54892b4-76e9-462a-a1c1-2495c9d2f8c9 g.chr16:84792342C>G ENST00000219473.7 + 5 1326 c.1213C>G c.(1213-1215)Cta>Gta p.L405V USP10_ENST00000570191.1_Missense_Mutation_p.L409V NM_001272075.1|NM_005153.2 NP_001259004.1|NP_005144.2 Q14694 UBP10_HUMAN ubiquitin specific peptidase 10 405 DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process early endosome|intermediate filament cytoskeleton|nucleus cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1) 17 GAATGTAACCCTAATCCATAA 0.438000 5 137 0 0 0.278610 0 0 RP11-640M9.2 0 broad.mit.edu 37 1 144598726 144598726 + RNA SNP A A C TCGA-EL-A3H7-01A-11D-A21A-08 TCGA-EL-A3H7-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c8615-e53f-450b-9974-468904b63294 a54892b4-76e9-462a-a1c1-2495c9d2f8c9 g.chr1:144598726A>C ENST00000419820.1 + 0 654 CATTCGGTGCACCAAGAGCAA 0.572000 3 26 0 0 0.150653 0 0 KLHL14 57565 broad.mit.edu 37 18 30349967 30349967 + Silent SNP G G A TCGA-EL-A3H7-01A-11D-A21A-08 TCGA-EL-A3H7-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c8615-e53f-450b-9974-468904b63294 a54892b4-76e9-462a-a1c1-2495c9d2f8c9 g.chr18:30349967G>A ENST00000359358.4 - 2 1026 c.588C>T c.(586-588)caC>caT p.H196H KLHL14_ENST00000358095.4_Silent_p.H196H|AC012123.1_ENST00000426194.1_Intron NM_020805.1 NP_065856.1 Q9P2G3 KLH14_HUMAN kelch-like family member 14 196 cytosol|endoplasmic reticulum membrane breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2) 31 CCTCCAGGCCGTGCAGCGCGG 0.612000 4 158 0 0 0.184627 0 0 UPF3A 65110 broad.mit.edu 37 13 115047559 115047559 + Silent SNP C C T TCGA-EL-A3H7-01A-11D-A21A-08 TCGA-EL-A3H7-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c8615-e53f-450b-9974-468904b63294 a54892b4-76e9-462a-a1c1-2495c9d2f8c9 g.chr13:115047559C>T ENST00000375299.3 + 2 327 c.271C>T c.(271-273)Ctg>Ttg p.L91L UPF3A_ENST00000351487.5_Silent_p.L91L NM_023011.3 NP_075387.1 Q9H1J1 REN3A_HUMAN UPF3 regulator of nonsense transcripts homolog A (yeast) 91 Required for interaction with UPF2. mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation cytoplasm|nucleus|plasma membrane nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding p.L91L(8) autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 16 Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238) BRCA - Breast invasive adenocarcinoma(86;0.0886) OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2) GCTGCGCCCGCTGCCAGCACA 0.731000 3 19 0 0 0.115264 0 0 MAGEB6 158809 broad.mit.edu 37 X 26212431 26212431 + Silent SNP G G T TCGA-EL-A3H7-01A-11D-A21A-08 TCGA-EL-A3H7-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c8615-e53f-450b-9974-468904b63294 a54892b4-76e9-462a-a1c1-2495c9d2f8c9 g.chrX:26212431G>T ENST00000379034.1 + 2 617 c.468G>T c.(466-468)tcG>tcT p.S156S NM_173523.2 NP_775794.2 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 156 Ser-rich. p.S156S(1) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2) 33 CCACTGGCTCGCCTGATGCAG 0.507000 6 98 1.06961e-07 1.25167e-07 0.278610 1 0 HHLA2 11148 broad.mit.edu 37 3 108076828 108076828 + Missense_Mutation SNP C C G TCGA-EL-A3H7-01A-11D-A21A-08 TCGA-EL-A3H7-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c8615-e53f-450b-9974-468904b63294 a54892b4-76e9-462a-a1c1-2495c9d2f8c9 g.chr3:108076828C>G ENST00000357759.5 + 6 1237 c.823C>G c.(823-825)Ctg>Gtg p.L275V HHLA2_ENST00000467562.1_Missense_Mutation_p.L211V|HHLA2_ENST00000491820.1_Missense_Mutation_p.L275V|HHLA2_ENST00000467761.1_Missense_Mutation_p.L275V|HHLA2_ENST00000489514.2_Missense_Mutation_p.L275V NM_007072.2 NP_009003.1 Q9UM44 HHLA2_HUMAN HERV-H LTR-associating 2 275 Ig-like V-type 2. integral to membrane endometrium(2)|large_intestine(1)|lung(14)|ovary(1) 18 GGCTTACTATCTGAGCTCCTC 0.373000 18 103 0 0 0.608945 0 0 SERPINE3 647174 broad.mit.edu 37 13 51915229 51915229 + Translation_Start_Site SNP T T G TCGA-EL-A3H7-01A-11D-A21A-08 TCGA-EL-A3H7-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c8615-e53f-450b-9974-468904b63294 a54892b4-76e9-462a-a1c1-2495c9d2f8c9 g.chr13:51915229T>G ENST00000524365.1 + 4 627 c.2T>G c.(1-3)aTg>aGg p.M1R SERPINE3_ENST00000521255.1_Start_Codon_SNP_p.M1R|SERPINE3_ENST00000400389.4_Start_Codon_SNP_p.M1R A8MV23 SERP3_HUMAN serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3 1 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity ovary(2) 2 CCAGCCTCCATGCCGCCTTTC 0.557000 33 60 0 0 0.847076 0 0 TUBGCP6 85378 broad.mit.edu 37 22 50659212 50659212 + Silent SNP A A G rs141527317 TCGA-EL-A3H7-01A-11D-A21A-08 TCGA-EL-A3H7-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c8615-e53f-450b-9974-468904b63294 a54892b4-76e9-462a-a1c1-2495c9d2f8c9 g.chr22:50659212A>G ENST00000439308.2 - 16 4068 c.3576T>C c.(3574-3576)tcT>tcC p.S1192S TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000248846.5_Silent_p.S1192S NM_020461.3 NP_065194.2 Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 1192 9 X 27 AA tandem repeats. G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2) 45 all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) TGCTGGCATCAGACACGTGTC 0.617000 6 143 0 0 0.278610 0 0 A1CF 29974 broad.mit.edu 37 10 52569681 52569681 + Missense_Mutation SNP C C T TCGA-EL-A3H7-01A-11D-A21A-08 TCGA-EL-A3H7-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c8615-e53f-450b-9974-468904b63294 a54892b4-76e9-462a-a1c1-2495c9d2f8c9 g.chr10:52569681C>T ENST00000395489.2 - 14 1981 c.1585G>A c.(1585-1587)Gct>Act p.A529T A1CF_ENST00000374001.1_Missense_Mutation_p.A528T|A1CF_ENST00000373993.1_Missense_Mutation_p.A536T|A1CF_ENST00000373997.3_Missense_Mutation_p.A528T|A1CF_ENST00000282641.2_Missense_Mutation_p.A536T|A1CF_ENST00000373995.3_Missense_Mutation_p.A536T|A1CF_ENST00000395495.1_Missense_Mutation_p.A481T|ASAH2B_ENST00000483649.1_Intron NM_001198819.1 NP_001185748.1 Q9NQ94 A1CF_HUMAN APOBEC1 complementation factor 536 cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3) 29 gcagcagcagcagtagcCATG 0.527000 4 105 0 0 0.150653 0 0 NACA 4666 broad.mit.edu 37 12 57111705 57111705 + Silent SNP G G A rs2926746 TCGA-EL-A3H7-01A-11D-A21A-08 TCGA-EL-A3H7-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c8615-e53f-450b-9974-468904b63294 a54892b4-76e9-462a-a1c1-2495c9d2f8c9 g.chr12:57111705G>A ENST00000454682.1 - 3 3890 c.3609C>T c.(3607-3609)ccC>ccT p.P1203P NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 CTTTTGGGGAGGGAGGAGTTG 0.642000 T BCL6 NHL 4 179 0 0 0.278610 0 0 TAS1R2 80834 broad.mit.edu 37 1 19181248 19181248 + Missense_Mutation SNP G G A TCGA-EL-A3H7-01A-11D-A21A-08 TCGA-EL-A3H7-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c8615-e53f-450b-9974-468904b63294 a54892b4-76e9-462a-a1c1-2495c9d2f8c9 g.chr1:19181248G>A ENST00000375371.3 - 3 737 c.716C>T c.(715-717)aCg>aTg p.T239M RP13-279N23.2_ENST00000494072.3_3'UTR NM_152232.2 NP_689418.2 Q8TE23 TS1R2_HUMAN taste receptor, type 1, member 2 239 detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1) 45 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) TGTGGGCAGCGTCTCCTGGAA 0.642000 12 15 0 0 0.457914 0 0 RPN1 6184 broad.mit.edu 37 3 128356853 128356853 + Missense_Mutation SNP G G T rs141345041 TCGA-EL-A3H7-01A-11D-A21A-08 TCGA-EL-A3H7-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c8615-e53f-450b-9974-468904b63294 a54892b4-76e9-462a-a1c1-2495c9d2f8c9 g.chr3:128356853G>T ENST00000296255.3 - 3 470 c.422C>A c.(421-423)cCg>cAg p.P141Q RPN1_ENST00000497289.1_5'UTR NM_002950.3 NP_002941.1 P04843 RPN1_HUMAN ribophorin I 141 post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|melanosome|oligosaccharyltransferase complex|rough microsome dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|stomach(2) 13 GBM - Glioblastoma multiforme(114;0.189) GGTTGGATACGGATGAAGCAC 0.468000 T EVI1 AML 3 64 0.00909568 0.0102094 0.150653 1 0 ZNF41 7592 broad.mit.edu 37 X 47308077 47308077 + Silent SNP A A G TCGA-EL-A3H7-01A-11D-A21A-08 TCGA-EL-A3H7-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c8615-e53f-450b-9974-468904b63294 a54892b4-76e9-462a-a1c1-2495c9d2f8c9 g.chrX:47308077A>G ENST00000377065.4 - 5 1731 c.1092T>C c.(1090-1092)ttT>ttC p.F364F ZNF41_ENST00000397050.2_Silent_p.F374F|ZNF41_ENST00000313116.7_Silent_p.F364F NM_153380.2 NP_700359.1 P51814 ZNF41_HUMAN zinc finger protein 41 406 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2) 24 all_lung(315;0.000129) ATCTCTGGAAAAAGGCTTTTC 0.403000 23 44 0 0 0.681144 0 0 BCL9 607 broad.mit.edu 37 1 147091501 147091501 + Frame_Shift_Del DEL C C - TCGA-EL-A3H7-01A-11D-A21A-08 TCGA-EL-A3H7-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c8615-e53f-450b-9974-468904b63294 a54892b4-76e9-462a-a1c1-2495c9d2f8c9 g.chr1:147091501delC ENST00000234739.3 + 8 2280 c.1540delC c.(1540-1542)ccfs p.P517fs NM_004326.2 NP_004317.2 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 517 Poly-Pro.|Pro-rich. Wnt receptor signaling pathway nucleus protein binding breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 7 all_hematologic(923;0.115) GGTCCGAGGACCCCCCCCTCC 0.582 T """IGH@, IGL@""" B-ALL 10 227 --- --- --- --- FAM217A 222826 broad.mit.edu 37 6 4069208 4069211 + Frame_Shift_Del DEL TGAA TGAA - TCGA-EL-A3H7-01A-11D-A21A-08 TCGA-EL-A3H7-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c8615-e53f-450b-9974-468904b63294 a54892b4-76e9-462a-a1c1-2495c9d2f8c9 g.chr6:4069208_4069211delTGAA ENST00000274673.3 - 7 1649_1652 c.1246_1249delTTCA c.(1246-1251)aafs p.FK416fs FAM217A_ENST00000380188.2_5'UTR NM_173563.2 NP_775834.2 Q8IXS0 CF146_HUMAN family with sequence similarity 217, member A 416 ATAGTAGGTTTGAATGAGAGTTCT 0.387 39 132 --- --- --- --- ZAN 7455 broad.mit.edu 37 7 100377342 100377342 + RNA DEL C C - TCGA-EL-A3H7-01A-11D-A21A-08 TCGA-EL-A3H7-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c8615-e53f-450b-9974-468904b63294 a54892b4-76e9-462a-a1c1-2495c9d2f8c9 g.chr7:100377342delC ENST00000542585.1 + 0 6737 ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) GGGGCTCAAGCCCCCACTCTG 0.627 2 4 --- --- --- --- FAM66B 0 broad.mit.edu 37 8 7196263 7196264 + RNA DEL AC AC - TCGA-EL-A3H7-01A-11D-A21A-08 TCGA-EL-A3H7-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c8615-e53f-450b-9974-468904b63294 a54892b4-76e9-462a-a1c1-2495c9d2f8c9 g.chr8:7196263_7196264delAC ENST00000606573.1 - 0 703 ACTGAGGGGTacacacacacac 0.500 4 7 --- --- --- --- ERMP1 79956 broad.mit.edu 37 9 5832860 5832861 + Frame_Shift_Ins INS - - C TCGA-EL-A3H7-01A-11D-A21A-08 TCGA-EL-A3H7-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c8615-e53f-450b-9974-468904b63294 a54892b4-76e9-462a-a1c1-2495c9d2f8c9 g.chr9:5832860_5832861insC ENST00000339450.5 - 1 256_257 c.167_168insG c.(166-168)gagfs p.E56fs NM_024896.2 NP_079172.2 Q7Z2K6 ERMP1_HUMAN endoplasmic reticulum metallopeptidase 1 56 proteolysis endoplasmic reticulum membrane|integral to membrane metal ion binding|metallopeptidase activity endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1) 20 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111) CGCCGCCGCTACCCCCGGGGCT 0.787 2 4 --- --- --- --- MARK2 2011 broad.mit.edu 37 11 63606995 63606995 + Frame_Shift_Del DEL C C - TCGA-EL-A3H7-01A-11D-A21A-08 TCGA-EL-A3H7-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c8615-e53f-450b-9974-468904b63294 a54892b4-76e9-462a-a1c1-2495c9d2f8c9 g.chr11:63606995delC ENST00000402010.2 + 1 596 c.17delC c.(16-18)acfs p.T6fs MARK2_ENST00000315032.8_Frame_Shift_Del_p.T6fs|MARK2_ENST00000350490.7_Frame_Shift_Del_p.T6fs|MARK2_ENST00000377809.4_Frame_Shift_Del_p.T6fs|MARK2_ENST00000413835.2_Frame_Shift_Del_p.T6fs|MARK2_ENST00000377810.3_5'UTR|MARK2_ENST00000502399.3_Frame_Shift_Del_p.T6fs|MARK2_ENST00000361128.5_Frame_Shift_Del_p.T6fs|MARK2_ENST00000508192.1_Frame_Shift_Del_p.T6fs NM_001039469.2 NP_001034558.2 Q7KZI7 MARK2_HUMAN MAP/microtubule affinity-regulating kinase 2 6 cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress plasma membrane ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 AGCGCTCGGACCCCCCTACCC 0.692 2 4 --- --- --- --- WBP7 0 broad.mit.edu 37 19 36212112 36212113 + Frame_Shift_Ins INS - - C TCGA-EL-A3H7-01A-11D-A21A-08 TCGA-EL-A3H7-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c8615-e53f-450b-9974-468904b63294 a54892b4-76e9-462a-a1c1-2495c9d2f8c9 g.chr19:36212112_36212113insC ENST00000222270.7 + 3 1863_1864 c.1863_1864insC c.(1861-1866)ccccccfs p.PP621fs WBP7_ENST00000341701.1_Intron|WBP7_ENST00000420124.1_Frame_Shift_Ins_p.PP621fs|KMT2B_ENST00000607650.1_RNA NM_014727.1 NP_055542.1 TGccccctcctcccccagcccc 0.673 4 4 --- --- --- ---