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 SH3BGR 6450 broad.mit.edu 37 21 40834416 40834416 + Missense_Mutation SNP C C T TCGA-EL-A3CP-01A-11D-A19J-08 TCGA-EL-A3CP-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 064b25ee-8746-499f-96f9-9bbde3961bb8 5aeaaf99-9861-46f1-b614-7cf0ed7f11dd g.chr21:40834416C>T ENST00000333634.4 + 2 428 c.350C>T c.(349-351)cCt>cTt p.P117L SH3BGR_ENST00000380634.1_Missense_Mutation_p.P6L|SH3BGR_ENST00000380637.3_Missense_Mutation_p.P6L|SH3BGR_ENST00000380631.1_Missense_Mutation_p.P6L|SH3BGR_ENST00000458295.1_Missense_Mutation_p.P6L NM_007341.2 NP_031367.1 P55822 SH3BG_HUMAN SH3 domain binding glutamic acid-rich protein 117 protein complex assembly cytosol SH3 domain binding|SH3/SH2 adaptor activity NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2) 8 all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133) STAD - Stomach adenocarcinoma(101;0.00151) GAGAATGTTCCTGGAGAGAAA 0.418000 4 61 0 0 1 0 0 CNKSR1 10256 broad.mit.edu 37 1 26515956 26515956 + Missense_Mutation SNP C C T rs1045105 byFrequency TCGA-EL-A3CP-01A-11D-A19J-08 TCGA-EL-A3CP-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 064b25ee-8746-499f-96f9-9bbde3961bb8 5aeaaf99-9861-46f1-b614-7cf0ed7f11dd g.chr1:26515956C>T ENST00000531191.1 + 20 2292 c.1285C>T c.(1285-1287)Cac>Tac p.H429Y CNKSR1_ENST00000374253.5_Missense_Mutation_p.H694Y|CNKSR1_ENST00000361530.6_Missense_Mutation_p.H687Y Q969H4 CNKR1_HUMAN connector enhancer of kinase suppressor of Ras 1 694 PH. Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway cell cortex|cell-cell junction protein binding, bridging p.H687Y(1) breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 28 Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649) ACAGTCCCCCCACTCCCTGCC 0.637000 4 70 0 0 1 0 0 CES1 1066 broad.mit.edu 37 16 55855375 55855375 + Missense_Mutation SNP G G T TCGA-EL-A3CP-01A-11D-A19J-08 TCGA-EL-A3CP-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 064b25ee-8746-499f-96f9-9bbde3961bb8 5aeaaf99-9861-46f1-b614-7cf0ed7f11dd g.chr16:55855375G>T ENST00000422046.2 - 5 876 c.595C>A c.(595-597)Cgc>Agc p.R199S CES1_ENST00000566555.1_5'UTR|CES1_ENST00000360526.3_Missense_Mutation_p.R200S|CES1_ENST00000361503.4_Missense_Mutation_p.R199S P23141 EST1_HUMAN carboxylesterase 1 199 R -> H (in dbSNP:rs2307243). response to toxin endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity all cancers(182;0.13)|Epithelial(162;0.137) Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691) TGGACCCAGCGCAGGGCAGCC 0.587000 3 35 0.184627 0.184627 1 1 0 SPATA31D1 389763 broad.mit.edu 37 9 84606454 84606454 + Missense_Mutation SNP A A T TCGA-EL-A3CP-01A-11D-A19J-08 TCGA-EL-A3CP-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 064b25ee-8746-499f-96f9-9bbde3961bb8 5aeaaf99-9861-46f1-b614-7cf0ed7f11dd g.chr9:84606454A>T ENST00000344803.2 + 4 1116 c.1069A>T c.(1069-1071)Acc>Tcc p.T357S NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 TTCAGAATTCACCTGGTGGCA 0.463000 4 109 0 0 1 0 0 HK3 3101 broad.mit.edu 37 5 176314337 176314337 + Splice_Site SNP C C T TCGA-EL-A3CP-01A-11D-A19J-08 TCGA-EL-A3CP-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 064b25ee-8746-499f-96f9-9bbde3961bb8 5aeaaf99-9861-46f1-b614-7cf0ed7f11dd g.chr5:176314337C>T ENST00000292432.5 - 12 1693 c.1600_splice c.e12-1 p.E534_splice NM_002115.2 NP_002106.2 P52790 HXK3_HUMAN hexokinase 3 (white cell) 534 Catalytic. glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AATCCCCTCGCTCTGTGGGGG 0.637000 13 39 0 0 1 0 0 DTX1 1840 broad.mit.edu 37 12 113515335 113515335 + Missense_Mutation SNP T T G TCGA-EL-A3CP-01A-11D-A19J-08 TCGA-EL-A3CP-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 064b25ee-8746-499f-96f9-9bbde3961bb8 5aeaaf99-9861-46f1-b614-7cf0ed7f11dd g.chr12:113515335T>G ENST00000257600.3 + 2 869 c.366T>G c.(364-366)gaT>gaG p.D122E NM_004416.2 NP_004407.2 Q86Y01 DTX1_HUMAN deltex homolog 1 (Drosophila) 122 WWE 2. negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter cytoplasm|nucleus Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 32 CGGCCTACGATATGGACATCT 0.622000 5 62 0 0 1 0 0 CROCC 9696 broad.mit.edu 37 1 17272075 17272075 + Missense_Mutation SNP G G A rs2781608 by1000genomes TCGA-EL-A3CP-01A-11D-A19J-08 TCGA-EL-A3CP-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 064b25ee-8746-499f-96f9-9bbde3961bb8 5aeaaf99-9861-46f1-b614-7cf0ed7f11dd g.chr1:17272075G>A ENST00000375541.5 + 15 2179 c.2110G>A c.(2110-2112)Gcc>Acc p.A704T CROCC_ENST00000467938.1_3'UTR NM_014675.3 NP_055490.3 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil, rootletin 704 cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity p.A704T(11) breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1) 62 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) GGCCGAGAAGGCCGAGGTGGC 0.657000 3 32 0 0 1 0 0 KIAA1109 84162 broad.mit.edu 37 4 123193357 123193357 + Missense_Mutation SNP A A G TCGA-EL-A3CP-01A-11D-A19J-08 TCGA-EL-A3CP-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 064b25ee-8746-499f-96f9-9bbde3961bb8 5aeaaf99-9861-46f1-b614-7cf0ed7f11dd g.chr4:123193357A>G ENST00000264501.4 + 48 8616 c.8243A>G c.(8242-8244)gAg>gGg p.E2748G KIAA1109_ENST00000455637.1_Missense_Mutation_p.E2748G|KIAA1109_ENST00000388738.3_Missense_Mutation_p.E2748G Q2LD37 K1109_HUMAN KIAA1109 2748 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 GTTGTGTTTGAGAATGAACAA 0.383000 14 48 0 0 1 0 0 RP11-435B5.4 0 broad.mit.edu 37 1 143403560 143403560 + RNA SNP G G A TCGA-EL-A3CP-01A-11D-A19J-08 TCGA-EL-A3CP-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 064b25ee-8746-499f-96f9-9bbde3961bb8 5aeaaf99-9861-46f1-b614-7cf0ed7f11dd g.chr1:143403560G>A ENST00000423249.1 - 0 59 GGATTTCTTTGGCCACTTTGG 0.458000 4 18 0 0 1 0 0 TYW1 55253 broad.mit.edu 37 7 66474575 66474575 + Silent SNP C C T TCGA-EL-A3CP-01A-11D-A19J-08 TCGA-EL-A3CP-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 064b25ee-8746-499f-96f9-9bbde3961bb8 5aeaaf99-9861-46f1-b614-7cf0ed7f11dd g.chr7:66474575C>T ENST00000359626.5 + 4 443 c.279C>T c.(277-279)ttC>ttT p.F93F NM_018264.2 NP_060734.2 Q9NV66 TYW1_HUMAN tRNA-yW synthesizing protein 1 homolog (S. cerevisiae) 93 Flavodoxin-like. tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2) 46 Lung NSC(55;0.0846)|all_lung(88;0.183) ATTAGGGATTCGCAACAGTTC 0.398000 5 75 0 0 1 0 0 GOLGA6L5 0 broad.mit.edu 37 15 85053124 85053124 + RNA SNP G G T TCGA-EL-A3CP-01A-11D-A19J-08 TCGA-EL-A3CP-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 064b25ee-8746-499f-96f9-9bbde3961bb8 5aeaaf99-9861-46f1-b614-7cf0ed7f11dd g.chr15:85053124G>T ENST00000414190.2 - 0 328 NR_003246.2 TAAATGTTTTGTTTTTTTTTT 0.353000 3 26 0.115264 0.118008 1 1 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274291 39274291 + Missense_Mutation SNP T T C rs149439944 by1000genomes TCGA-EL-A3CP-01A-11D-A19J-08 TCGA-EL-A3CP-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 064b25ee-8746-499f-96f9-9bbde3961bb8 5aeaaf99-9861-46f1-b614-7cf0ed7f11dd g.chr17:39274291T>C ENST00000391413.2 - 1 315 c.277A>G c.(277-279)Atg>Gtg p.M93V NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 93 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.M93V(4) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) TGGCAGCACATAGACTGGCAG 0.662000 5 47 0 0 1 0 0 TDRD6 221400 broad.mit.edu 37 6 46656684 46656684 + Silent SNP G G A TCGA-EL-A3CP-01A-11D-A19J-08 TCGA-EL-A3CP-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 064b25ee-8746-499f-96f9-9bbde3961bb8 5aeaaf99-9861-46f1-b614-7cf0ed7f11dd g.chr6:46656684G>A ENST00000544460.1 + 1 1073 c.819G>A c.(817-819)tcG>tcA p.S273S TDRD6_ENST00000316081.6_Silent_p.S273S NM_001168359.1 NP_001161831.1 O60522 TDRD6_HUMAN tudor domain containing 6 273 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) GCAGCGTCTCGCAGGAGATCC 0.627000 3 23 0 0 1 0 0 ALG1L13P 0 broad.mit.edu 37 8 8095902 8095902 + RNA SNP T T C TCGA-EL-A3CP-01A-11D-A19J-08 TCGA-EL-A3CP-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 064b25ee-8746-499f-96f9-9bbde3961bb8 5aeaaf99-9861-46f1-b614-7cf0ed7f11dd g.chr8:8095902T>C ENST00000523017.1 - 0 608 ACACTCCCCCTAGGAGGGATC 0.632000 3 40 0 0 1 0 0 PPAP2C 8612 broad.mit.edu 37 19 281534 281534 + Missense_Mutation SNP A A G rs61738956 byFrequency TCGA-EL-A3CP-01A-11D-A19J-08 TCGA-EL-A3CP-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 064b25ee-8746-499f-96f9-9bbde3961bb8 5aeaaf99-9861-46f1-b614-7cf0ed7f11dd g.chr19:281534A>G ENST00000269812.3 - 6 770 c.721T>C c.(721-723)Tgc>Cgc p.C241R PPAP2C_ENST00000434325.2_Missense_Mutation_p.C185R|PPAP2C_ENST00000327790.3_Missense_Mutation_p.C262R NM_003712.2|NM_177526.1 NP_003703.1|NP_803545.1 O43688 LPP2_HUMAN phosphatidic acid phosphatase type 2C 241 sphingolipid metabolic process integral to membrane|plasma membrane phosphatidate phosphatase activity|phosphoprotein phosphatase activity|sphingosine-1-phosphate phosphatase activity breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)|skin(1) 5 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GAGATGTAGCAGACCTGGTAG 0.617000 3 42 0 0 1 0 0 DFNB31 25861 broad.mit.edu 37 9 117166263 117166263 + Silent SNP G G T TCGA-EL-A3CP-01A-11D-A19J-08 TCGA-EL-A3CP-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 064b25ee-8746-499f-96f9-9bbde3961bb8 5aeaaf99-9861-46f1-b614-7cf0ed7f11dd g.chr9:117166263G>T ENST00000362057.3 - 10 2499 c.2331C>A c.(2329-2331)ggC>ggA p.G777G DFNB31_ENST00000265134.6_Silent_p.G394G|DFNB31_ENST00000374059.3_Silent_p.G426G NM_001173425.1|NM_015404.3 NP_001166896.1|NP_056219.3 Q9P202 WHRN_HUMAN deafness, autosomal recessive 31 777 inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound cytoplasm|growth cone|stereocilium central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 GCCTTCCTCGGCCTGGGGCGC 0.652000 41 84 2.58029e-29 2.84493e-29 1 1 0 OR2T35 403244 broad.mit.edu 37 1 248801588 248801588 + Splice_Site SNP C C T TCGA-EL-A3CP-01A-11D-A19J-08 TCGA-EL-A3CP-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 064b25ee-8746-499f-96f9-9bbde3961bb8 5aeaaf99-9861-46f1-b614-7cf0ed7f11dd g.chr1:248801588C>T ENST00000317450.3 - 1 971 c.969_splice c.e1+1 p.*324_splice NM_001001827.1 NP_001001827.1 Q8NGX2 O2T35_HUMAN olfactory receptor, family 2, subfamily T, member 35 0 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1) 6 all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.237) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GGAGTCCCTGCTAGCCCTTCC 0.552000 4 58 0 0 1 0 0 LAT 0 broad.mit.edu 37 16 28996725 28996725 + Missense_Mutation SNP G G A rs77760721 byFrequency TCGA-EL-A3CP-01A-11D-A19J-08 TCGA-EL-A3CP-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 064b25ee-8746-499f-96f9-9bbde3961bb8 5aeaaf99-9861-46f1-b614-7cf0ed7f11dd g.chr16:28996725G>A ENST00000395461.3 + 2 131 c.95G>A c.(94-96)cGa>cAa p.R32Q LAT_ENST00000395456.2_5'UTR|RP11-264B17.3_ENST00000569969.1_RNA|LAT_ENST00000454369.2_5'UTR|LAT_ENST00000360872.5_5'UTR|LAT_ENST00000563964.1_3'UTR|LAT_ENST00000564277.1_5'UTR NM_001014989.1 NP_001014989.2 O43561 LAT_HUMAN linker for activation of T cells 236 calcium-mediated signaling|integrin-mediated signaling pathway|mast cell degranulation|platelet activation|Ras protein signal transduction|regulation of T cell activation|T cell receptor signaling pathway immunological synapse|integral to membrane|intracellular|membrane raft SH3/SH2 adaptor activity large_intestine(2)|lung(3)|urinary_tract(1) 6 Hepatocellular(780;0.244) AGCCTGCTCCGAGCTCCCCTG 0.667000 3 26 0 0 1 0 0 ZNF181 339318 broad.mit.edu 37 19 35232200 35232200 + Missense_Mutation SNP T T G rs143797666 TCGA-EL-A3CP-01A-11D-A19J-08 TCGA-EL-A3CP-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 064b25ee-8746-499f-96f9-9bbde3961bb8 5aeaaf99-9861-46f1-b614-7cf0ed7f11dd g.chr19:35232200T>G ENST00000392232.3 + 6 1214 c.1046T>G c.(1045-1047)gTc>gGc p.V349G ZNF181_ENST00000459757.1_Missense_Mutation_p.V304G|ZNF181_ENST00000492450.1_Missense_Mutation_p.V305G Q2M3W8 ZN181_HUMAN zinc finger protein 181 305 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.V241G(4) endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1) 22 all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.138) TTTAGCCATGTCTCATCACTT 0.413000 6 102 0 0 1 0 0 ZNF407 55628 broad.mit.edu 37 18 72346448 72346448 + Missense_Mutation SNP T T C TCGA-EL-A3CP-01A-11D-A19J-08 TCGA-EL-A3CP-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 064b25ee-8746-499f-96f9-9bbde3961bb8 5aeaaf99-9861-46f1-b614-7cf0ed7f11dd g.chr18:72346448T>C ENST00000299687.5 + 1 3473 c.3473T>C c.(3472-3474)tTc>tCc p.F1158S ZNF407_ENST00000582337.1_Missense_Mutation_p.F1158S|ZNF407_ENST00000577538.1_Missense_Mutation_p.F1158S|ZNF407_ENST00000309902.6_Missense_Mutation_p.F1158S NM_017757.2 NP_060227.2 Q9C0G0 ZN407_HUMAN zinc finger protein 407 1158 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2) 67 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) GAATCTAATTTCAATGAAGAC 0.383000 21 82 0 0 1 0 0 IGSF3 3321 broad.mit.edu 37 1 117150895 117150895 + Silent SNP C C T rs61730485 TCGA-EL-A3CP-01A-11D-A19J-08 TCGA-EL-A3CP-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 064b25ee-8746-499f-96f9-9bbde3961bb8 5aeaaf99-9861-46f1-b614-7cf0ed7f11dd g.chr1:117150895C>T ENST00000369486.3 - 5 1656 c.891G>A c.(889-891)ccG>ccA p.P297P IGSF3_ENST00000369483.1_Silent_p.P297P|IGSF3_ENST00000318837.6_Silent_p.P297P NM_001007237.1 NP_001007238.1 O75054 IGSF3_HUMAN immunoglobulin superfamily, member 3 297 Ig-like C2-type 3. integral to membrane NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 62 Lung SC(450;0.225) all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05) Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166) TGAACTCCACCGGCTCGCCCA 0.542000 3 33 0 0 1 0 0 FYCO1 79443 broad.mit.edu 37 3 46009289 46009289 + Missense_Mutation SNP G G A rs141828619 TCGA-EL-A3CP-01A-11D-A19J-08 TCGA-EL-A3CP-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 064b25ee-8746-499f-96f9-9bbde3961bb8 5aeaaf99-9861-46f1-b614-7cf0ed7f11dd g.chr3:46009289G>A ENST00000296137.2 - 8 1742 c.1537C>T c.(1537-1539)Cgg>Tgg p.R513W FYCO1_ENST00000535325.1_Missense_Mutation_p.R513W NM_024513.3 NP_078789.2 Q9BQS8 FYCO1_HUMAN FYVE and coiled-coil domain containing 1 513 transport integral to membrane metal ion binding|protein binding NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 54 BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323) TGCAGCTGCCGGGTCAGAGAC 0.582000 5 142 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EL-A3CP-01A-11D-A19J-08 TCGA-EL-A3CP-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 064b25ee-8746-499f-96f9-9bbde3961bb8 5aeaaf99-9861-46f1-b614-7cf0ed7f11dd 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 35 57 0 0 1 0 0 AGAP6 414189 broad.mit.edu 37 10 51768543 51768543 + Missense_Mutation SNP T T C TCGA-EL-A3CP-01A-11D-A19J-08 TCGA-EL-A3CP-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 064b25ee-8746-499f-96f9-9bbde3961bb8 5aeaaf99-9861-46f1-b614-7cf0ed7f11dd g.chr10:51768543T>C ENST00000374056.4 + 7 987 c.589T>C c.(589-591)Tcg>Ccg p.S197P AGAP6_ENST00000412531.3_Missense_Mutation_p.S220P C9IYN2 C9IYN2_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 6 220 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding p.S220P(3) NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2) 29 CTCCATTCCATCGACTCCCAG 0.532000 5 128 0 0 1 0 0 GCC2 9648 broad.mit.edu 37 2 109087883 109087884 + Frame_Shift_Ins INS - - A TCGA-EL-A3CP-01A-11D-A19J-08 TCGA-EL-A3CP-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 064b25ee-8746-499f-96f9-9bbde3961bb8 5aeaaf99-9861-46f1-b614-7cf0ed7f11dd g.chr2:109087883_109087884insA ENST00000309863.6 + 6 2812_2813 c.2098_2099insA c.(2098-2100)aaafs p.K700fs NM_181453.3 NP_852118.1 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain containing 2 700 Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 ACTCAGTTCAGAAAAAAAACAG 0.307 8 295 --- --- --- --- LINC00969 0 broad.mit.edu 37 3 195400814 195400815 + RNA INS - - TT TCGA-EL-A3CP-01A-11D-A19J-08 TCGA-EL-A3CP-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 064b25ee-8746-499f-96f9-9bbde3961bb8 5aeaaf99-9861-46f1-b614-7cf0ed7f11dd g.chr3:195400814_195400815insTT ENST00000445430.1 + 0 1410_1411 ACCTGGTTGTCTGGTCAGGCAT 0.574 8 40 --- --- --- --- MSH3 4437 broad.mit.edu 37 5 79950742 79950750 + In_Frame_Del DEL CCCCCAGCT CCCCCAGCT - rs3045983 TCGA-EL-A3CP-01A-11D-A19J-08 TCGA-EL-A3CP-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 064b25ee-8746-499f-96f9-9bbde3961bb8 5aeaaf99-9861-46f1-b614-7cf0ed7f11dd g.chr5:79950742_79950750delCCCCCAGCT ENST00000265081.6 + 1 276_284 c.196_204delCCCCCAGCT c.(196-204)del p.PPA66del DHFR_ENST00000439211.2_5'UTR NM_002439.4 NP_002430.3 P20585 MSH3_HUMAN mutS homolog 3 66 maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244) OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33) gCCCCCAGCGCCCCCAGCTCCCGCCTTCC 0.732 Mismatch excision repair (MMR) 6 4 --- --- --- --- CCNT1 904 broad.mit.edu 37 12 49087434 49087436 + In_Frame_Del DEL ATG ATG - TCGA-EL-A3CP-01A-11D-A19J-08 TCGA-EL-A3CP-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 064b25ee-8746-499f-96f9-9bbde3961bb8 5aeaaf99-9861-46f1-b614-7cf0ed7f11dd g.chr12:49087434_49087436delATG ENST00000261900.3 - 9 1783_1785 c.1561_1563delCAT c.(1561-1563)del p.H521del NM_001240.3 NP_001231.2 O60563 CCNT1_HUMAN cyclin T1 521 His-rich. cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm DNA binding|protein kinase binding breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2) 27 AGTGGTGATTATGATGATGATGA 0.443 8 437 --- --- --- --- TPTE2P1 0 broad.mit.edu 37 13 25527490 25527491 + RNA INS - - AAAAAG TCGA-EL-A3CP-01A-11D-A19J-08 TCGA-EL-A3CP-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 064b25ee-8746-499f-96f9-9bbde3961bb8 5aeaaf99-9861-46f1-b614-7cf0ed7f11dd g.chr13:25527490_25527491insAAAAAG ENST00000429698.1 - 0 282 AGGAAGGTTCTAAAAAAAATTT 0.252 4 8 --- --- --- --- RP11-252A24.2 0 broad.mit.edu 37 16 74372915 74372915 + RNA DEL T T - rs67181940 TCGA-EL-A3CP-01A-11D-A19J-08 TCGA-EL-A3CP-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 064b25ee-8746-499f-96f9-9bbde3961bb8 5aeaaf99-9861-46f1-b614-7cf0ed7f11dd g.chr16:74372915delT ENST00000429810.2 - 0 1404 ACGTAGtttgttttttttttt 0.438 3 4 --- --- --- --- SHANK1 50944 broad.mit.edu 37 19 51171632 51171634 + In_Frame_Del DEL GCC GCC - TCGA-EL-A3CP-01A-11D-A19J-08 TCGA-EL-A3CP-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 064b25ee-8746-499f-96f9-9bbde3961bb8 5aeaaf99-9861-46f1-b614-7cf0ed7f11dd g.chr19:51171632_51171634delGCC ENST00000293441.1 - 22 3601_3603 c.3583_3585delGGC c.(3583-3585)del p.G1195del SYT3_ENST00000544769.1_5'UTR|SHANK1_ENST00000359082.3_In_Frame_Del_p.G1186del|SHANK1_ENST00000391814.1_In_Frame_Del_p.G1203del|SHANK1_ENST00000391813.1_In_Frame_Del_p.G582del NM_016148.2 NP_057232.2 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 1195 Poly-Gly. cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 64 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) tgggcgaggAGCCGCCGCCGCCG 0.808 2 4 --- --- --- ---