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 SLC45A4 57210 broad.mit.edu 37 8 142231748 142231748 + Missense_Mutation SNP G G A TCGA-DU-8158-01A-11D-2253-08 TCGA-DU-8158-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9019256-e13e-41ea-ab8b-f4d1e8715998 75357e93-258a-49ac-a33f-0fc24dbf88d2 g.chr8:142231748G>A ENST00000519067.1 - 2 508 c.205C>T c.(205-207)Cgg>Tgg p.R69W SLC45A4_ENST00000433583.2_Missense_Mutation_p.R62W|SLC45A4_ENST00000517878.1_Missense_Mutation_p.R120W|SLC45A4_ENST00000024061.3_Missense_Mutation_p.R69W Q5BKX6 S45A4_HUMAN solute carrier family 45, member 4 120 transport integral to membrane breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) ATGAAGGGCCGCCGGCGGCCC 0.617000 6 75 0 0 1 0 0 APOA1BP 128240 broad.mit.edu 37 1 156563279 156563279 + Missense_Mutation SNP C C A TCGA-DU-8158-01A-11D-2253-08 TCGA-DU-8158-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9019256-e13e-41ea-ab8b-f4d1e8715998 75357e93-258a-49ac-a33f-0fc24dbf88d2 g.chr1:156563279C>A ENST00000368235.3 + 5 639 c.596C>A c.(595-597)cCg>cAg p.P199Q APOA1BP_ENST00000368234.3_Silent_p.T180T|APOA1BP_ENST00000368233.3_Missense_Mutation_p.P199Q NM_144772.2 NP_658985.2 Q8NCW5 AIBP_HUMAN apolipoprotein A-I binding protein 199 YjeF N-terminal. extracellular region protein binding central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1) 9 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GTTCGGGAACCGTTCCACAGC 0.562000 3 88 1 1 1 1 0 BCL9L 283149 broad.mit.edu 37 11 118772576 118772576 + Missense_Mutation SNP T T C TCGA-DU-8158-01A-11D-2253-08 TCGA-DU-8158-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9019256-e13e-41ea-ab8b-f4d1e8715998 75357e93-258a-49ac-a33f-0fc24dbf88d2 g.chr11:118772576T>C ENST00000334801.3 - 6 2840 c.1876A>G c.(1876-1878)Atg>Gtg p.M626V BCL9L_ENST00000526143.1_5'UTR NM_182557.2 NP_872363.1 Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like 626 negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 56 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) ATGGCATTCATGGGCACCTCC 0.622000 11 23 0 0 1 0 0 CXorf67 340602 broad.mit.edu 37 X 51150493 51150493 + Missense_Mutation SNP G G A TCGA-DU-8158-01A-11D-2253-08 TCGA-DU-8158-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9019256-e13e-41ea-ab8b-f4d1e8715998 75357e93-258a-49ac-a33f-0fc24dbf88d2 g.chrX:51150493G>A ENST00000342995.2 + 1 727 c.625G>A c.(625-627)Gca>Aca p.A209T chromosome X open reading frame 67 breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1) 21 CGCATCTGAGGCAAGGCCTGC 0.647000 5 22 0 0 1 0 0 ALDH4A1 8659 broad.mit.edu 37 1 19209803 19209803 + Silent SNP G G A TCGA-DU-8158-01A-11D-2253-08 TCGA-DU-8158-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9019256-e13e-41ea-ab8b-f4d1e8715998 75357e93-258a-49ac-a33f-0fc24dbf88d2 g.chr1:19209803G>A ENST00000375341.3 - 6 830 c.573C>T c.(571-573)agC>agT p.S191S ALDH4A1_ENST00000538839.1_Silent_p.S191S|ALDH4A1_ENST00000538309.1_Silent_p.S131S|RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000454547.1_5'UTR|ALDH4A1_ENST00000290597.5_Silent_p.S191S NM_003748.3 NP_003739.2 P30038 AL4A1_HUMAN aldehyde dehydrogenase 4 family, member A1 191 PPS -> LPY (in Ref. 9; AA sequence). proline biosynthetic process|proline catabolic process mitochondrial matrix 1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1) 15 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;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) NADH(DB00157) TGCTGTTGGTGCTCGGGGGCA 0.647000 18 71 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72993684 72993684 + Missense_Mutation SNP C C A TCGA-DU-8158-01A-11D-2253-08 TCGA-DU-8158-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9019256-e13e-41ea-ab8b-f4d1e8715998 75357e93-258a-49ac-a33f-0fc24dbf88d2 g.chr16:72993684C>A ENST00000268489.5 - 2 1033 c.361G>T c.(361-363)Gac>Tac p.D121Y ZFHX3_ENST00000397992.5_Intron NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 121 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) CTCTCCTCGTCCCCCTCCTCA 0.687000 18 93 7.41877e-09 8.29897e-09 1 1 0 PBRM1 55193 broad.mit.edu 37 3 52597305 52597305 + Silent SNP G G A TCGA-DU-8158-01A-11D-2253-08 TCGA-DU-8158-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9019256-e13e-41ea-ab8b-f4d1e8715998 75357e93-258a-49ac-a33f-0fc24dbf88d2 g.chr3:52597305G>A ENST00000356770.4 - 23 3986 c.3984C>T c.(3982-3984)ccC>ccT p.P1328P PBRM1_ENST00000410007.1_Silent_p.P1335P|PBRM1_ENST00000409767.1_Silent_p.P1375P|PBRM1_ENST00000409114.3_Silent_p.P1375P|PBRM1_ENST00000394830.3_Intron|PBRM1_ENST00000337303.4_Silent_p.P1360P|PBRM1_ENST00000296302.7_Silent_p.P1360P|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000409057.1_Silent_p.P1360P Q86U86 PB1_HUMAN polybromo 1 1360 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) TCACCTGTGGGGGTGTGTAGG 0.498000 """Mis, N, F, S, D, O""" """clear cell renal carcinoma, breast""" 4 64 0 0 1 0 0 OTUD4 54726 broad.mit.edu 37 4 146059006 146059006 + Missense_Mutation SNP G G A TCGA-DU-8158-01A-11D-2253-08 TCGA-DU-8158-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9019256-e13e-41ea-ab8b-f4d1e8715998 75357e93-258a-49ac-a33f-0fc24dbf88d2 g.chr4:146059006G>A ENST00000454497.2 - 21 2863 c.2726C>T c.(2725-2727)aCt>aTt p.T909I OTUD4_ENST00000447906.2_Missense_Mutation_p.T974I|OTUD4_ENST00000455611.2_Intron NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 973 protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) AACAGGCACAGTTTCTCTCTC 0.463000 5 152 0 0 1 0 0 FAM5C 0 broad.mit.edu 37 1 190067492 190067492 + Missense_Mutation SNP C C T TCGA-DU-8158-01A-11D-2253-08 TCGA-DU-8158-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9019256-e13e-41ea-ab8b-f4d1e8715998 75357e93-258a-49ac-a33f-0fc24dbf88d2 g.chr1:190067492C>T ENST00000367462.3 - 8 2188 c.1957G>A c.(1957-1959)Gac>Aac p.D653N FAM5C_ENST00000534846.1_Missense_Mutation_p.D551N|FAM5C_ENST00000484105.1_5'UTR NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 653 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) CGGGAAGGGTCAATAAACTCC 0.428000 35 57 0 0 1 0 0 HLTF 6596 broad.mit.edu 37 3 148792096 148792096 + Silent SNP A A C TCGA-DU-8158-01A-11D-2253-08 TCGA-DU-8158-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9019256-e13e-41ea-ab8b-f4d1e8715998 75357e93-258a-49ac-a33f-0fc24dbf88d2 g.chr3:148792096A>C ENST00000310053.5 - 4 628 c.435T>G c.(433-435)ccT>ccG p.P145P HLTF_ENST00000465259.1_Silent_p.P145P|HLTF_ENST00000494055.1_Silent_p.P145P|HLTF_ENST00000392912.2_Silent_p.P145P NM_003071.3|NM_139048.2 NP_003062.2|NP_620636.1 Q14527 HLTF_HUMAN helicase-like transcription factor 145 chromatin modification|transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 47 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) TCATATGCAGAGGCATGGTAA 0.363000 31 21 0 0 1 0 0 COL15A1 1306 broad.mit.edu 37 9 101778341 101778341 + Silent SNP T T C TCGA-DU-8158-01A-11D-2253-08 TCGA-DU-8158-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9019256-e13e-41ea-ab8b-f4d1e8715998 75357e93-258a-49ac-a33f-0fc24dbf88d2 g.chr9:101778341T>C ENST00000375001.3 + 11 2010 c.1587T>C c.(1585-1587)ccT>ccC p.P529P NM_001855.3 NP_001846.3 P39059 COFA1_HUMAN collagen, type XV, alpha 1 529 4 X tandem repeats.|Nonhelical region 1 (NC1). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) CCGGCAGCCCTCCCCCTGATG 0.572000 3 60 0 0 1 0 0 SLITRK3 22865 broad.mit.edu 37 3 164906713 164906713 + Missense_Mutation SNP G G T TCGA-DU-8158-01A-11D-2253-08 TCGA-DU-8158-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9019256-e13e-41ea-ab8b-f4d1e8715998 75357e93-258a-49ac-a33f-0fc24dbf88d2 g.chr3:164906713G>T ENST00000475390.1 - 2 2349 c.1906C>A c.(1906-1908)Cca>Aca p.P636T SLITRK3_ENST00000241274.3_Missense_Mutation_p.P636T O94933 SLIK3_HUMAN SLIT and NTRK-like family, member 3 636 integral to membrane NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 GCACTGGTTGGTGCCCCAATA 0.527000 HNSCC(40;0.11) 11 31 3.07112e-06 3.32285e-06 1 1 0 LUZP4 51213 broad.mit.edu 37 X 114541268 114541268 + Missense_Mutation SNP G G A TCGA-DU-8158-01A-11D-2253-08 TCGA-DU-8158-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9019256-e13e-41ea-ab8b-f4d1e8715998 75357e93-258a-49ac-a33f-0fc24dbf88d2 g.chrX:114541268G>A ENST00000371920.3 + 4 848 c.841G>A c.(841-843)Gtg>Atg p.V281M LUZP4_ENST00000451986.2_Missense_Mutation_p.V199M NM_016383.3 NP_057467.1 Q9P127 LUZP4_HUMAN leucine zipper protein 4 281 nucleus endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 14 GAGAGATCTCGTGGCCACTGA 0.428000 21 105 0 0 1 0 0 EPHA10 284656 broad.mit.edu 37 1 38227461 38227461 + Missense_Mutation SNP C C T TCGA-DU-8158-01A-11D-2253-08 TCGA-DU-8158-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9019256-e13e-41ea-ab8b-f4d1e8715998 75357e93-258a-49ac-a33f-0fc24dbf88d2 g.chr1:38227461C>T ENST00000373048.4 - 3 465 c.466G>A c.(466-468)Gcg>Acg p.A156T EPHA10_ENST00000427468.2_Missense_Mutation_p.A156T|EPHA10_ENST00000319637.6_Missense_Mutation_p.A156T NM_001099439.1 NP_001092909.1 Q5JZY3 EPHAA_HUMAN EPH receptor A10 156 extracellular region|integral to membrane|integral to plasma membrane ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) TCGTCCGCCGCGATCGTGTCG 0.657000 4 40 0 0 1 0 0 ALDH4A1 8659 broad.mit.edu 37 1 19209838 19209838 + Missense_Mutation SNP G G C TCGA-DU-8158-01A-11D-2253-08 TCGA-DU-8158-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9019256-e13e-41ea-ab8b-f4d1e8715998 75357e93-258a-49ac-a33f-0fc24dbf88d2 g.chr1:19209838G>C ENST00000375341.3 - 6 795 c.538C>G c.(538-540)Ctg>Gtg p.L180V ALDH4A1_ENST00000538839.1_Missense_Mutation_p.L180V|ALDH4A1_ENST00000538309.1_Missense_Mutation_p.L120V|RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000454547.1_5'UTR|ALDH4A1_ENST00000290597.5_Missense_Mutation_p.L180V NM_003748.3 NP_003739.2 P30038 AL4A1_HUMAN aldehyde dehydrogenase 4 family, member A1 180 proline biosynthetic process|proline catabolic process mitochondrial matrix 1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1) 15 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;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) NADH(DB00157) TGCCCCTCCAGCTCCACCGCA 0.642000 22 58 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196877622 196877622 + Missense_Mutation SNP C C T TCGA-DU-8158-01A-11D-2253-08 TCGA-DU-8158-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9019256-e13e-41ea-ab8b-f4d1e8715998 75357e93-258a-49ac-a33f-0fc24dbf88d2 g.chr2:196877622C>T ENST00000312428.6 - 10 978 c.878G>A c.(877-879)cGt>cAt p.R293H DNAH7_ENST00000410072.1_Missense_Mutation_p.R293H NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 293 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 ATCAACTAAACGTAATTTTCT 0.279000 16 23 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144945911 144945911 + Missense_Mutation SNP C C T TCGA-DU-8158-01A-11D-2253-08 TCGA-DU-8158-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9019256-e13e-41ea-ab8b-f4d1e8715998 75357e93-258a-49ac-a33f-0fc24dbf88d2 g.chr8:144945911C>T ENST00000525985.1 - 2 1582 c.1511G>A c.(1510-1512)cGg>cAg p.R504Q P58107 EPIPL_HUMAN epiplakin 1 504 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GGGCCGGCCCCGGAACTTCCC 0.677000 8 15 0 0 1 0 0 TOX4 9878 broad.mit.edu 37 14 21961062 21961062 + Silent SNP T T A TCGA-DU-8158-01A-11D-2253-08 TCGA-DU-8158-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9019256-e13e-41ea-ab8b-f4d1e8715998 75357e93-258a-49ac-a33f-0fc24dbf88d2 g.chr14:21961062T>A ENST00000405508.1 + 8 1563 c.1287T>A c.(1285-1287)gcT>gcA p.A429A TOX4_ENST00000448790.2_Silent_p.A406A|TOX4_ENST00000262709.3_Silent_p.A429A O94842 TOX4_HUMAN TOX high mobility group box family member 4 429 Gln/Pro-rich.|Poly-Ala. chromatin|nucleus|PTW/PP1 phosphatase complex DNA binding|protein binding p.A429A(1) large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(95;0.000465) Epithelial(56;6.61e-06)|all cancers(55;5.15e-05) GBM - Glioblastoma multiforme(265;0.0149) CAGCAGCAGCTGCTGCTGCTG 0.582000 3 96 0 0 1 0 0 ZNF557 79230 broad.mit.edu 37 19 7083553 7083553 + Missense_Mutation SNP C C G TCGA-DU-8158-01A-11D-2253-08 TCGA-DU-8158-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9019256-e13e-41ea-ab8b-f4d1e8715998 75357e93-258a-49ac-a33f-0fc24dbf88d2 g.chr19:7083553C>G ENST00000414706.1 + 8 1564 c.1091C>G c.(1090-1092)aCa>aGa p.T364R ZNF557_ENST00000439035.2_Missense_Mutation_p.T357R|ZNF557_ENST00000252840.6_Missense_Mutation_p.T364R NM_001044387.1|NM_001044388.1|NM_024341.2 NP_001037852.1|NP_001037853.1|NP_077317.2 Q8N988 ZN557_HUMAN zinc finger protein 557 357 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 17 Lung(535;0.179) TTTTCTCTTACAATTCACAGG 0.383000 4 47 0 0 1 0 0 EGFR 1956 broad.mit.edu 37 7 55211008 55211008 + Missense_Mutation SNP A A T TCGA-DU-8158-01A-11D-2253-08 TCGA-DU-8158-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9019256-e13e-41ea-ab8b-f4d1e8715998 75357e93-258a-49ac-a33f-0fc24dbf88d2 g.chr7:55211008A>T ENST00000275493.2 + 3 428 c.251A>T c.(250-252)gAg>gTg p.E84V EGFR_ENST00000442591.1_Missense_Mutation_p.E84V|EGFR_ENST00000342916.3_Missense_Mutation_p.E84V|EGFR_ENST00000344576.2_Missense_Mutation_p.E84V|EGFR_ENST00000454757.2_Missense_Mutation_p.E31V|EGFR_ENST00000420316.2_Missense_Mutation_p.E84V|EGFR_ENST00000455089.1_Missense_Mutation_p.E84V NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 84 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) ACCATCCAGGAGGTGGCTGGT 0.448000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 23 65 0 0 1 0 0 COPS2 9318 broad.mit.edu 37 15 49447771 49447771 + Missense_Mutation SNP G G C TCGA-DU-8158-01A-11D-2253-08 TCGA-DU-8158-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9019256-e13e-41ea-ab8b-f4d1e8715998 75357e93-258a-49ac-a33f-0fc24dbf88d2 g.chr15:49447771G>C ENST00000388901.5 - 1 78 c.5C>G c.(4-6)tCt>tGt p.S2C COPS2_ENST00000299259.6_Missense_Mutation_p.S2C|COPS2_ENST00000542928.1_Missense_Mutation_p.S2C NM_001143887.1|NM_004236.3 NP_001137359.1|NP_004227.1 P61201 CSN2_HUMAN COP9 signalosome subunit 2 2 cullin deneddylation|transcription from RNA polymerase II promoter cytoplasm|signalosome protein binding|signal transducer activity cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2) 18 all_lung(180;0.0428) all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05) CTCCATGTCAGACATCTTGGC 0.557000 39 40 0 0 1 0 0 PGM3 5238 broad.mit.edu 37 6 83884095 83884095 + Missense_Mutation SNP G G T TCGA-DU-8158-01A-11D-2253-08 TCGA-DU-8158-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9019256-e13e-41ea-ab8b-f4d1e8715998 75357e93-258a-49ac-a33f-0fc24dbf88d2 g.chr6:83884095G>T ENST00000513973.1 - 10 1356 c.1240C>A c.(1240-1242)Cag>Aag p.Q414K PGM3_ENST00000512866.1_Missense_Mutation_p.Q414K|PGM3_ENST00000506587.1_Missense_Mutation_p.Q442K|PGM3_ENST00000283977.4_Missense_Mutation_p.Q333K NM_001199918.1|NM_015599.2 NP_001186847.1|NP_056414.1 O95394 AGM1_HUMAN phosphoglucomutase 3 414 dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 18 all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068) BRCA - Breast invasive adenocarcinoma(397;0.0478) GTTCTGACCTGGTTAAACAAG 0.383000 3 7 1 1 1 1 0 SDHAP1 0 broad.mit.edu 37 3 195711423 195711423 + RNA SNP A A G TCGA-DU-8158-01A-11D-2253-08 TCGA-DU-8158-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9019256-e13e-41ea-ab8b-f4d1e8715998 75357e93-258a-49ac-a33f-0fc24dbf88d2 g.chr3:195711423A>G ENST00000427841.1 - 0 524 NR_003264.2 CTCTTGTACTAGAAACAGACC 0.552000 4 34 0 0 1 0 0 ATG16L2 89849 broad.mit.edu 37 11 72528829 72528829 + Missense_Mutation SNP G G C TCGA-DU-8158-01A-11D-2253-08 TCGA-DU-8158-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9019256-e13e-41ea-ab8b-f4d1e8715998 75357e93-258a-49ac-a33f-0fc24dbf88d2 g.chr11:72528829G>C ENST00000321297.5 + 3 385 c.247G>C c.(247-249)Gtc>Ctc p.V83L ATG16L2_ENST00000534905.1_Missense_Mutation_p.V83L NM_033388.1 NP_203746.1 Q8NAA4 A16L2_HUMAN autophagy related 16-like 2 (S. cerevisiae) 83 autophagy|protein transport cytoplasm protein binding breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9) 14 BRCA - Breast invasive adenocarcinoma(5;2.73e-06) CTCAGACCAAGTCCCATCACT 0.587000 12 27 0 0 1 0 0 TMEM39B 55116 broad.mit.edu 37 1 32542835 32542835 + Missense_Mutation SNP C C T TCGA-DU-8158-01A-11D-2253-08 TCGA-DU-8158-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9019256-e13e-41ea-ab8b-f4d1e8715998 75357e93-258a-49ac-a33f-0fc24dbf88d2 g.chr1:32542835C>T ENST00000427288.1 + 6 641 c.161C>T c.(160-162)aCg>aTg p.T54M TMEM39B_ENST00000373634.4_Intron|TMEM39B_ENST00000487305.1_3'UTR|TMEM39B_ENST00000456834.2_Intron|TMEM39B_ENST00000336294.5_Missense_Mutation_p.T169M Q9GZU3 TM39B_HUMAN transmembrane protein 39B 169 integral to membrane endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2) 11 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) ACCGTTCTCACGGCAACAGGC 0.592000 17 160 0 0 1 0 0 BCR 613 broad.mit.edu 37 22 23631729 23631729 + Silent SNP C C G TCGA-DU-8158-01A-11D-2253-08 TCGA-DU-8158-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9019256-e13e-41ea-ab8b-f4d1e8715998 75357e93-258a-49ac-a33f-0fc24dbf88d2 g.chr22:23631729C>G ENST00000305877.8 + 13 3379 c.2628C>G c.(2626-2628)tcC>tcG p.S876S BCR_ENST00000359540.3_Silent_p.S876S NM_004327.3 NP_004318.3 P11274 BCR_HUMAN breakpoint cluster region 876 C2. regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity BCR/JAK2(6) central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 35 CCCTGACATCCGTGGAGCTGC 0.572000 T """ABL1, FGFR1, JAK2 """ """CML, ALL, AML""" 19 26 0 0 1 0 0 KIF1B 23095 broad.mit.edu 37 1 10386237 10386237 + Missense_Mutation SNP C C T TCGA-DU-8158-01A-11D-2253-08 TCGA-DU-8158-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9019256-e13e-41ea-ab8b-f4d1e8715998 75357e93-258a-49ac-a33f-0fc24dbf88d2 g.chr1:10386237C>T ENST00000377086.1 + 27 2946 c.2744C>T c.(2743-2745)aCg>aTg p.T915M KIF1B_ENST00000377081.1_Missense_Mutation_p.T915M|KIF1B_ENST00000263934.6_Missense_Mutation_p.T869M O60333 KIF1B_HUMAN kinesin family member 1B 915 anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding p.T869M(1) breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2) 71 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) ACTTTTTCCACGGCCGATTCC 0.572000 21 220 0 0 1 0 0 BTBD8 284697 broad.mit.edu 37 1 92606709 92606709 + Nonsense_Mutation SNP G G T TCGA-DU-8158-01A-11D-2253-08 TCGA-DU-8158-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9019256-e13e-41ea-ab8b-f4d1e8715998 75357e93-258a-49ac-a33f-0fc24dbf88d2 g.chr1:92606709G>T ENST00000342818.3 + 7 1107 c.871G>T c.(871-873)Gga>Tga p.G291* BTBD8_ENST00000540648.1_Intron NM_183242.3 NP_899065.2 Q5XKL5 BTBD8_HUMAN BTB (POZ) domain containing 8 291 nucleus breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1) 16 all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222) all cancers(265;0.0153)|Epithelial(280;0.0982) TGGACTAGAAGGATTAAAAGA 0.299000 3 58 0.150653 0.157827 1 1 0 OTUD4 54726 broad.mit.edu 37 4 146059041 146059041 + Silent SNP A A G TCGA-DU-8158-01A-11D-2253-08 TCGA-DU-8158-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9019256-e13e-41ea-ab8b-f4d1e8715998 75357e93-258a-49ac-a33f-0fc24dbf88d2 g.chr4:146059041A>G ENST00000454497.2 - 21 2828 c.2691T>C c.(2689-2691)caT>caC p.H897H OTUD4_ENST00000447906.2_Silent_p.H962H|OTUD4_ENST00000455611.2_Intron NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 961 protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) GAGTGGGAGGATGAGCCTTTC 0.478000 4 167 0 0 1 0 0 PLCG2 5336 broad.mit.edu 37 16 81953235 81953235 + Missense_Mutation SNP C C A TCGA-DU-8158-01A-11D-2253-08 TCGA-DU-8158-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9019256-e13e-41ea-ab8b-f4d1e8715998 75357e93-258a-49ac-a33f-0fc24dbf88d2 g.chr16:81953235C>A ENST00000359376.3 + 20 2415 c.2201C>A c.(2200-2202)cCc>cAc p.P734H NM_002661.3 NP_002652.2 P16885 PLCG2_HUMAN phospholipase C, gamma 2 (phosphatidylinositol-specific) 734 SH2 2. intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 58 CTGCGCTACCCCGTGACCCCC 0.517000 23 57 6.38683e-12 7.26777e-12 1 1 0 ADAM21P1 0 broad.mit.edu 37 14 70713782 70713782 + RNA SNP A A G rs114580810 by1000genomes TCGA-DU-8158-01A-11D-2253-08 TCGA-DU-8158-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9019256-e13e-41ea-ab8b-f4d1e8715998 75357e93-258a-49ac-a33f-0fc24dbf88d2 g.chr14:70713782A>G ENST00000530196.1 - 0 736 NR_003951.1 GTCACCAGCAAATTTTGGTTC 0.443000 3 64 0 0 1 0 0 CACNA1D 776 broad.mit.edu 37 3 53837571 53837571 + Missense_Mutation SNP G G C TCGA-DU-8158-01A-11D-2253-08 TCGA-DU-8158-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9019256-e13e-41ea-ab8b-f4d1e8715998 75357e93-258a-49ac-a33f-0fc24dbf88d2 g.chr3:53837571G>C ENST00000288139.3 + 45 5735 c.5617G>C c.(5617-5619)Gag>Cag p.E1873Q CACNA1D_ENST00000544977.1_Missense_Mutation_p.E232Q|CACNA1D_ENST00000350061.5_Missense_Mutation_p.E1853Q|CACNA1D_ENST00000422281.2_Missense_Mutation_p.E1829Q NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit 1853 axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) GGAATGCTACGAGGATGACAG 0.617000 84 169 0 0 1 0 0 WNK1 65125 broad.mit.edu 37 12 994382 994382 + Missense_Mutation SNP C C T TCGA-DU-8158-01A-11D-2253-08 TCGA-DU-8158-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9019256-e13e-41ea-ab8b-f4d1e8715998 75357e93-258a-49ac-a33f-0fc24dbf88d2 g.chr12:994382C>T ENST00000537687.1 + 19 5835 c.5192C>T c.(5191-5193)cCt>cTt p.P1731L WNK1_ENST00000340908.4_Missense_Mutation_p.P1064L|WNK1_ENST00000315939.6_Missense_Mutation_p.P1471L|WNK1_ENST00000535572.1_Missense_Mutation_p.P1224L|WNK1_ENST00000530271.2_Missense_Mutation_p.P1969L NM_001184985.1|NM_213655.4 NP_001171914.1|NP_998820.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 1471 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) GGTCCTAAGCCTCCAGCTGTA 0.507000 27 82 0 0 1 0 0 KIF25 0 broad.mit.edu 37 6 168430272 168430272 + Missense_Mutation SNP T T A TCGA-DU-8158-01A-11D-2253-08 TCGA-DU-8158-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9019256-e13e-41ea-ab8b-f4d1e8715998 75357e93-258a-49ac-a33f-0fc24dbf88d2 g.chr6:168430272T>A ENST00000443060.2 + 3 398 c.7T>A c.(7-9)Tgg>Agg p.W3R KIF25_ENST00000351261.3_Missense_Mutation_p.W3R|KIF25_ENST00000354419.2_Missense_Mutation_p.W3R Q9UIL4 KIF25_HUMAN kinesin family member 25 3 Kinesin-motor. microtubule-based movement|mitotic sister chromatid segregation cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity p.W3R(1) NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 29 Breast(66;1.07e-05)|Ovarian(120;0.0728) Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756) CCAGATGACATGGACCTCAGG 0.612000 4 129 0 0 1 0 0 DMGDH 29958 broad.mit.edu 37 5 78359457 78359457 + Missense_Mutation SNP C C A TCGA-DU-8158-01A-11D-2253-08 TCGA-DU-8158-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9019256-e13e-41ea-ab8b-f4d1e8715998 75357e93-258a-49ac-a33f-0fc24dbf88d2 g.chr5:78359457C>A ENST00000380311.4 - 2 263 c.121G>T c.(121-123)Ggc>Tgc p.G41C DMGDH_ENST00000540686.1_Missense_Mutation_p.R11L|DMGDH_ENST00000255189.3_Silent_p.T85T|DMGDH_ENST00000520388.1_Intron Q9UI17 M2GD_HUMAN dimethylglycine dehydrogenase 243 choline metabolic process|glycine catabolic process mitochondrial matrix aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 34 all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192) OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35) TAGATCCAGCCGTGAGCTCTG 0.502000 3 100 1 1 1 1 0 LRP1B 53353 broad.mit.edu 37 2 141274478 141274478 + Missense_Mutation SNP C C G TCGA-DU-8158-01A-11D-2253-08 TCGA-DU-8158-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9019256-e13e-41ea-ab8b-f4d1e8715998 75357e93-258a-49ac-a33f-0fc24dbf88d2 g.chr2:141274478C>G ENST00000389484.3 - 50 9100 c.8129G>C c.(8128-8130)gGa>gCa p.G2710A NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 2710 LDL-receptor class A 15. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TTCATCACGTCCATCCTCACA 0.328000 TSP Lung(27;0.18) 25 67 0 0 1 0 0 ZXDB 158586 broad.mit.edu 37 X 57620231 57620231 + Missense_Mutation SNP G G A TCGA-DU-8158-01A-11D-2253-08 TCGA-DU-8158-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9019256-e13e-41ea-ab8b-f4d1e8715998 75357e93-258a-49ac-a33f-0fc24dbf88d2 g.chrX:57620231G>A ENST00000374888.1 + 1 1963 c.1750G>A c.(1750-1752)Gca>Aca p.A584T NM_007157.3 NP_009088.1 P98169 ZXDB_HUMAN zinc finger, X-linked, duplicated B 584 Required for transcriptional activation (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6) 27 TCAGCTAGAAGCAGCAAATTC 0.463000 10 192 0 0 1 0 0 ARMC3 219681 broad.mit.edu 37 10 23292319 23292319 + Silent SNP C C T TCGA-DU-8158-01A-11D-2253-08 TCGA-DU-8158-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9019256-e13e-41ea-ab8b-f4d1e8715998 75357e93-258a-49ac-a33f-0fc24dbf88d2 g.chr10:23292319C>T ENST00000298032.5 + 13 1791 c.1707C>T c.(1705-1707)aaC>aaT p.N569N ARMC3_ENST00000409983.3_Silent_p.N569N|ARMC3_ENST00000409049.3_Silent_p.N569N|ARMC3_ENST00000376528.4_Silent_p.N306N NM_173081.3 NP_775104.2 Q5W041 ARMC3_HUMAN armadillo repeat containing 3 569 binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 ACATAATTAACGATGGATTCT 0.323000 42 51 0 0 1 0 0 TMEM217 221468 broad.mit.edu 37 6 37186714 37186714 + Missense_Mutation SNP G G C TCGA-DU-8158-01A-11D-2253-08 TCGA-DU-8158-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9019256-e13e-41ea-ab8b-f4d1e8715998 75357e93-258a-49ac-a33f-0fc24dbf88d2 g.chr6:37186714G>C ENST00000336655.2 - 2 132 c.93C>G c.(91-93)atC>atG p.I31M TMEM217_ENST00000356757.2_Missense_Mutation_p.I31M|TMEM217_ENST00000497775.1_Intron NM_145316.3 NP_660359.2 Q8N7C4 TM217_HUMAN transmembrane protein 217 31 integral to membrane endometrium(2)|kidney(1)|large_intestine(5)|lung(1) 9 TCTGTTCAAAGATGAGATACA 0.478000 3 158 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21640450 21640450 + Missense_Mutation SNP C C T TCGA-DU-8158-01A-11D-2253-08 TCGA-DU-8158-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9019256-e13e-41ea-ab8b-f4d1e8715998 75357e93-258a-49ac-a33f-0fc24dbf88d2 g.chr7:21640450C>T ENST00000328843.6 + 16 3188 c.3157C>T c.(3157-3159)Ctc>Ttc p.L1053F DNAH11_ENST00000409508.3_Missense_Mutation_p.L1053F Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 1053 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 GAAGCATTTTCTCTTGTATGG 0.438000 Kartagener syndrome 50 135 0 0 1 0 0 SEMA3E 9723 broad.mit.edu 37 7 83119551 83119551 + Missense_Mutation SNP G G T TCGA-DU-8158-01A-11D-2253-08 TCGA-DU-8158-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9019256-e13e-41ea-ab8b-f4d1e8715998 75357e93-258a-49ac-a33f-0fc24dbf88d2 g.chr7:83119551G>T ENST00000307792.3 - 2 622 c.155C>A c.(154-156)cCt>cAt p.P52H SEMA3E_ENST00000427262.1_5'UTR NM_012431.2 NP_036563.1 O15041 SEM3E_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E 52 Sema. axon guidance extracellular space|membrane receptor activity breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 51 Medulloblastoma(109;0.109) AAATCCAAAAGGGCTATGAAA 0.413000 18 47 3.51602e-12 4.07118e-12 1 1 0 METTL16 79066 broad.mit.edu 37 17 2324130 2324130 + Silent SNP G G A TCGA-DU-8158-01A-11D-2253-08 TCGA-DU-8158-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9019256-e13e-41ea-ab8b-f4d1e8715998 75357e93-258a-49ac-a33f-0fc24dbf88d2 g.chr17:2324130G>A ENST00000263092.5 - 9 1084 c.957C>T c.(955-957)tcC>tcT p.S319S METTL16_ENST00000571669.1_5'UTR|METTL16_ENST00000538844.1_Silent_p.S101S NM_024086.3 NP_076991.3 Q86W50 MET16_HUMAN methyltransferase like 16 319 methyltransferase activity kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1) 19 CCTTCATCACGGACGCCAGCA 0.453000 79 179 0 0 1 0 0 DHX38 9785 broad.mit.edu 37 16 72132924 72132924 + Missense_Mutation SNP C C T rs148934675 TCGA-DU-8158-01A-11D-2253-08 TCGA-DU-8158-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9019256-e13e-41ea-ab8b-f4d1e8715998 75357e93-258a-49ac-a33f-0fc24dbf88d2 g.chr16:72132924C>T ENST00000268482.3 + 6 1372 c.863C>T c.(862-864)cCg>cTg p.P288L DHX38_ENST00000536867.1_Intron NM_014003.3 NP_054722.2 Q92620 PRP16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 38 288 mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription catalytic step 2 spliceosome|nucleoplasm ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 48 Ovarian(137;0.125) GGGTCCACCCCGCGTCTGTCC 0.617000 16 29 0 0 1 0 0 DDX26B 203522 broad.mit.edu 37 X 134711345 134711345 + Silent SNP A A G TCGA-DU-8158-01A-11D-2253-08 TCGA-DU-8158-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9019256-e13e-41ea-ab8b-f4d1e8715998 75357e93-258a-49ac-a33f-0fc24dbf88d2 g.chrX:134711345A>G ENST00000370752.4 + 14 2335 c.2001A>G c.(1999-2001)gtA>gtG p.V667V DDX26B_ENST00000493637.1_Intron NM_182540.4 NP_872346.3 Q5JSJ4 DX26B_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B 667 large_intestine(1)|lung(8) 9 Acute lymphoblastic leukemia(192;6.56e-05) CCACCCTTGTACATACAGGTA 0.443000 3 80 0 0 1 0 0 APOO 79135 broad.mit.edu 37 X 23899066 23899066 + Missense_Mutation SNP T T A TCGA-DU-8158-01A-11D-2253-08 TCGA-DU-8158-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9019256-e13e-41ea-ab8b-f4d1e8715998 75357e93-258a-49ac-a33f-0fc24dbf88d2 g.chrX:23899066T>A ENST00000379226.4 - 2 244 c.13A>T c.(13-15)Att>Ttt p.I5F APOO_ENST00000379220.3_Missense_Mutation_p.I5F NM_024122.4 NP_077027.1 Q9BUR5 APOO_HUMAN apolipoprotein O 5 lipid transport high-density lipoprotein particle|integral to membrane|low-density lipoprotein particle|very-low-density lipoprotein particle breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|prostate(1) 9 GACCTCTGAATTACCTGAAAT 0.478000 29 37 0 0 1 0 0 PSMC6 5706 broad.mit.edu 37 14 53175072 53175072 + Missense_Mutation SNP A A G TCGA-DU-8158-01A-11D-2253-08 TCGA-DU-8158-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9019256-e13e-41ea-ab8b-f4d1e8715998 75357e93-258a-49ac-a33f-0fc24dbf88d2 g.chr14:53175072A>G ENST00000445930.2 + 2 179 c.173A>G c.(172-174)gAa>gGa p.E58G PSMC6_ENST00000606149.1_Missense_Mutation_p.E44G P62333 PRS10_HUMAN proteasome (prosome, macropain) 26S subunit, ATPase, 6 44 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome complex ATP binding|ATPase activity|protein binding, bridging breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1) 19 Breast(41;0.176) GAAAAGTCTGAAAATGATCTG 0.353000 20 18 0 0 1 0 0 KIF19 124602 broad.mit.edu 37 17 72343952 72343952 + Missense_Mutation SNP G G A TCGA-DU-8158-01A-11D-2253-08 TCGA-DU-8158-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9019256-e13e-41ea-ab8b-f4d1e8715998 75357e93-258a-49ac-a33f-0fc24dbf88d2 g.chr17:72343952G>A ENST00000389916.4 + 9 1099 c.961G>A c.(961-963)Gct>Act p.A321T NM_153209.3 NP_694941.2 Q2TAC6 KIF19_HUMAN kinesin family member 19 321 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 41 AGTGATGATCGCTCACATCAG 0.627000 3 8 0 0 1 0 0 FLOT2 2319 broad.mit.edu 37 17 27207756 27207756 + Missense_Mutation SNP G G A TCGA-DU-8158-01A-11D-2253-08 TCGA-DU-8158-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9019256-e13e-41ea-ab8b-f4d1e8715998 75357e93-258a-49ac-a33f-0fc24dbf88d2 g.chr17:27207756G>A ENST00000394906.2 - 12 1465 c.1388C>T c.(1387-1389)gCc>gTc p.A463V FLOT2_ENST00000394908.4_Missense_Mutation_p.A408V|FLOT2_ENST00000577789.1_5'UTR|FLOT2_ENST00000585169.1_Missense_Mutation_p.A408V Q14254 FLOT2_HUMAN flotillin 2 408 cell adhesion|epidermis development cell surface|endocytic vesicle|endosome|membrane fraction endometrium(3)|lung(6)|prostate(1)|urinary_tract(1) 11 all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01) Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602) GCCTGTGAGGGCATGCACAGA 0.597000 5 138 0 0 1 0 0 DCAF12L1 139170 broad.mit.edu 37 X 125686452 125686452 + Missense_Mutation SNP G G A TCGA-DU-8158-01A-11D-2253-08 TCGA-DU-8158-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9019256-e13e-41ea-ab8b-f4d1e8715998 75357e93-258a-49ac-a33f-0fc24dbf88d2 g.chrX:125686452G>A ENST00000371126.1 - 1 382 c.140C>T c.(139-141)aCg>aTg p.T47M NM_178470.4 NP_848565.2 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 47 p.T47M(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 CGAGCGATACGTCGCCGGCCG 0.721000 21 51 0 0 1 0 0 HSPA13 6782 broad.mit.edu 37 21 15748040 15748040 + Silent SNP G G A TCGA-DU-8158-01A-11D-2253-08 TCGA-DU-8158-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9019256-e13e-41ea-ab8b-f4d1e8715998 75357e93-258a-49ac-a33f-0fc24dbf88d2 g.chr21:15748040G>A ENST00000285667.3 - 4 748 c.681C>T c.(679-681)ggC>ggT p.G227G HSPA13_ENST00000544452.1_Silent_p.G19G NM_006948.4 NP_008879.3 P48723 HSP13_HUMAN heat shock protein 70kDa family, member 13 227 endoplasmic reticulum|microsome ATP binding NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 13 GAGTTCCTCCGCCCAAGTCTA 0.483000 32 97 0 0 1 0 0 APBA1 320 broad.mit.edu 37 9 72131516 72131516 + Missense_Mutation SNP G G T TCGA-DU-8158-01A-11D-2253-08 TCGA-DU-8158-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9019256-e13e-41ea-ab8b-f4d1e8715998 75357e93-258a-49ac-a33f-0fc24dbf88d2 g.chr9:72131516G>T ENST00000265381.4 - 2 833 c.611C>A c.(610-612)gCg>gAg p.A204E NM_001163.3 NP_001154.2 Q02410 APBA1_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 1 204 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 CAGCTCGGGCGCGTCCCCTAT 0.721000 12 12 7.93312e-07 8.72643e-07 1 1 0 PDE8A 5151 broad.mit.edu 37 15 85610300 85610300 + Missense_Mutation SNP G G A TCGA-DU-8158-01A-11D-2253-08 TCGA-DU-8158-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9019256-e13e-41ea-ab8b-f4d1e8715998 75357e93-258a-49ac-a33f-0fc24dbf88d2 g.chr15:85610300G>A ENST00000310298.4 + 4 551 c.299G>A c.(298-300)tGt>tAt p.C100Y PDE8A_ENST00000339708.5_Missense_Mutation_p.C100Y|PDE8A_ENST00000557819.2_3'UTR|PDE8A_ENST00000557957.1_Missense_Mutation_p.C28Y|PDE8A_ENST00000394553.1_Missense_Mutation_p.C100Y O60658 PDE8A_HUMAN phosphodiesterase 8A 100 cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 25 Colorectal(223;0.227) BRCA - Breast invasive adenocarcinoma(143;0.0608) TGCAGGGCATGTGAAAAAGCA 0.383000 38 31 0 0 1 0 0 RNF19A 25897 broad.mit.edu 37 8 101287238 101287238 + Missense_Mutation SNP G G A TCGA-DU-8158-01A-11D-2253-08 TCGA-DU-8158-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9019256-e13e-41ea-ab8b-f4d1e8715998 75357e93-258a-49ac-a33f-0fc24dbf88d2 g.chr8:101287238G>A ENST00000519449.1 - 4 1142 c.826C>T c.(826-828)Cgt>Tgt p.R276C RNF19A_ENST00000341084.2_Missense_Mutation_p.R276C NM_015435.3 NP_056250.3 Q9NV58 RN19A_HUMAN ring finger protein 19A, RBR E3 ubiquitin protein ligase 276 microtubule cytoskeleton organization|protein modification process centrosome|integral to membrane ligase activity|transcription factor binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 30 all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166) Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525) GTTCTCAAACGTAAGCTCTGG 0.418000 24 61 0 0 1 0 0 GABRA1 2554 broad.mit.edu 37 5 161324195 161324195 + Missense_Mutation SNP G G C TCGA-DU-8158-01A-11D-2253-08 TCGA-DU-8158-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9019256-e13e-41ea-ab8b-f4d1e8715998 75357e93-258a-49ac-a33f-0fc24dbf88d2 g.chr5:161324195G>C ENST00000428797.2 + 11 1493 c.1138G>C c.(1138-1140)Gcc>Ccc p.A380P GABRA1_ENST00000023897.6_Missense_Mutation_p.A380P|GABRA1_ENST00000393943.4_Missense_Mutation_p.A380P|GABRA1_ENST00000437025.2_Missense_Mutation_p.A380P|GABRA1_ENST00000444819.1_Missense_Mutation_p.A380P|GABRA1_ENST00000420560.1_Missense_Mutation_p.A380P NM_001127643.1 NP_001121115.1 P14867 GBRA1_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 1 380 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1) 42 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.228) Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425) CCCTAATTTGGCCAGGGGCGA 0.458000 36 118 0 0 1 0 0 GTF2IRD2P1 0 broad.mit.edu 37 7 72658179 72658179 + RNA SNP T T C rs147293416 by1000genomes TCGA-DU-8158-01A-11D-2253-08 TCGA-DU-8158-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9019256-e13e-41ea-ab8b-f4d1e8715998 75357e93-258a-49ac-a33f-0fc24dbf88d2 g.chr7:72658179T>C ENST00000425256.1 - 0 1732 NR_002164.1 cagagtgatttcggatgaatt 0.507000 3 59 0 0 1 0 0 FOXP2 93986 broad.mit.edu 37 7 114270000 114270000 + Silent SNP G G A TCGA-DU-8158-01A-11D-2253-08 TCGA-DU-8158-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9019256-e13e-41ea-ab8b-f4d1e8715998 75357e93-258a-49ac-a33f-0fc24dbf88d2 g.chr7:114270000G>A ENST00000393500.3 + 11 1132 c.312G>A c.(310-312)caG>caA p.Q104Q FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000393494.2_Silent_p.Q179Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q|AC020606.1_ENST00000580664.1_RNA O15409 FOXP2_HUMAN forkhead box P2 179 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding p.Q204Q(1) breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 agcaacaacagcagcagcagc 0.498000 4 61 0 0 1 0 0 PTPN18 26469 broad.mit.edu 37 2 131129929 131129934 + In_Frame_Del DEL GACGGG GACGGG - rs112040677 TCGA-DU-8158-01A-11D-2253-08 TCGA-DU-8158-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9019256-e13e-41ea-ab8b-f4d1e8715998 75357e93-258a-49ac-a33f-0fc24dbf88d2 g.chr2:131129929_131129934delGACGGG ENST00000175756.5 + 13 1214_1219 c.1113_1118delGACGGG c.(1111-1119)cag>ca p.QTG371del PTPN18_ENST00000347849.3_In_Frame_Del_p.QTG264del NM_014369.3 NP_055184.2 Q99952 PTN18_HUMAN protein tyrosine phosphatase, non-receptor type 18 (brain-derived) 371 cytoplasm|nucleus non-membrane spanning protein tyrosine phosphatase activity p.T378_G379delTG(1) endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1) 15 Colorectal(110;0.1) gtgggacgcagacggggacggggacg 0.777 3 4 --- --- --- --- CRIPAK 285464 broad.mit.edu 37 4 1388467 1388468 + Frame_Shift_Del DEL CA CA - TCGA-DU-8158-01A-11D-2253-08 TCGA-DU-8158-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9019256-e13e-41ea-ab8b-f4d1e8715998 75357e93-258a-49ac-a33f-0fc24dbf88d2 g.chr4:1388467_1388468delCA ENST00000324803.4 + 1 3128_3129 c.168_169delCA c.(166-171)ctcafs p.LT56fs NM_175918.3 NP_787114.2 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 56 ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(23;0.0106) CCCGCCTGCTCACACGTGCCCA 0.644 8 1081 --- --- --- --- CACNA1B 774 broad.mit.edu 37 9 140938299 140938299 + Frame_Shift_Del DEL C C - TCGA-DU-8158-01A-11D-2253-08 TCGA-DU-8158-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9019256-e13e-41ea-ab8b-f4d1e8715998 75357e93-258a-49ac-a33f-0fc24dbf88d2 g.chr9:140938299delC ENST00000277549.5 + 21 3505 c.936delC c.(934-936)ggfs p.G312fs CACNA1B_ENST00000371355.4_Frame_Shift_Del_p.G1121fs|CACNA1B_ENST00000371357.1_Frame_Shift_Del_p.G1121fs|CACNA1B_ENST00000371372.1_Frame_Shift_Del_p.G1120fs|CACNA1B_ENST00000371363.1_Frame_Shift_Del_p.G1120fs|CACNA1B_ENST00000277551.2_Frame_Shift_Del_p.G1120fs|CACNA1B_ENST00000545473.1_Frame_Shift_Del_p.G146fs Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 1120 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) TGAGGAGCGGCCCCCGGCCTA 0.597 7 408 --- --- --- --- PTEN 5728 broad.mit.edu 37 10 89717715 89717716 + Frame_Shift_Ins INS - - A TCGA-DU-8158-01A-11D-2253-08 TCGA-DU-8158-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9019256-e13e-41ea-ab8b-f4d1e8715998 75357e93-258a-49ac-a33f-0fc24dbf88d2 g.chr10:89717715_89717716insA ENST00000371953.3 + 7 2097_2098 c.740_741insA c.(739-741)tccfs p.S247fs PTEN_ENST00000472832.1_3'UTR NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 247 C2 tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.P248fs*5(13)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.L247*(2)|p.G165_*404del(1)|p.L247fs*6(1)|p.?(1)|p.L247fs*5(1)|p.L247fs*4(1)|p.L247F(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) CCTCAGCCGTTACCTGTGTGTG 0.406 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 48 53 --- --- --- --- POLDIP2 26073 broad.mit.edu 37 17 26684394 26684395 + Splice_Site INS - - G rs113730440 TCGA-DU-8158-01A-11D-2253-08 TCGA-DU-8158-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9019256-e13e-41ea-ab8b-f4d1e8715998 75357e93-258a-49ac-a33f-0fc24dbf88d2 g.chr17:26684394_26684395insG ENST00000540200.1 - 1 78 c.e1+1 POLDIP2_ENST00000003607.4_5'UTR NM_015584.3 NP_056399.1 Q9Y2S7 PDIP2_HUMAN polymerase (DNA-directed), delta interacting protein 2 mitochondrial nucleoid|nucleus all_lung(13;0.000354)|Lung NSC(42;0.00115) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) AGAGCGGCTTTGCCACCGGGCC 0.762 6 7 --- --- --- --- BACH1 571 broad.mit.edu 37 21 30699512 30699513 + Frame_Shift_Del DEL TA TA - rs145991657 TCGA-DU-8158-01A-11D-2253-08 TCGA-DU-8158-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9019256-e13e-41ea-ab8b-f4d1e8715998 75357e93-258a-49ac-a33f-0fc24dbf88d2 g.chr21:30699512_30699513delTA ENST00000399921.1 + 3 1610_1611 c.1367_1368delTA c.(1366-1368)tfs p.L456fs BACH1_ENST00000286800.3_Frame_Shift_Del_p.L456fs NM_206866.1 NP_996749.1 O14867 BACH1_HUMAN BTB and CNC homology 1, basic leucine zipper transcription factor 1 456 nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2) 27 TTCACAACATTAAGTTCTGTCA 0.436 29 53 --- --- --- ---