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 HSPG2 3339 broad.mit.edu 37 1 22169810 22169810 + Missense_Mutation SNP G G A TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr1:22169810G>A ENST00000374695.3 - 66 8817 c.8738C>T c.(8737-8739)tCc>tTc p.S2913F NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 2913 Ig-like C2-type 14. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) TCCTGGGCTGGAGGGCTCAAT 0.632000 10 46 0 0 0.006214 0 0 CDC7 8317 broad.mit.edu 37 1 91978847 91978847 + Missense_Mutation SNP C C A TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr1:91978847C>A ENST00000428239.1 + 7 1064 c.805C>A c.(805-807)Caa>Aaa p.Q269K CDC7_ENST00000234626.6_Missense_Mutation_p.Q269K|CDC7_ENST00000430031.2_Missense_Mutation_p.Q241K NM_001134420.1 NP_001127892.1 O00311 CDC7_HUMAN cell division cycle 7 269 Protein kinase. cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase cytoplasm|nucleoplasm ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2) 23 all_lung(203;0.0165)|Lung NSC(277;0.0562) all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124) TCAGATTAAACAAGGAAAAGA 0.403000 4 29 1.23904e-05 3.95693e-05 0.000602 1 0 TRIM42 287015 broad.mit.edu 37 3 140401851 140401851 + Missense_Mutation SNP C C T TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr3:140401851C>T ENST00000286349.3 + 2 1080 c.889C>T c.(889-891)Cgc>Tgc p.R297C NM_152616.4 NP_689829.3 Q8IWZ5 TRI42_HUMAN tripartite motif containing 42 297 intracellular zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 CCCATCCAGCCGCATCATCGA 0.552000 7 39 0 0 0.001984 0 0 MX2 4600 broad.mit.edu 37 21 42754440 42754440 + Silent SNP C C T rs145539486 byFrequency TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr21:42754440C>T ENST00000330714.3 + 5 865 c.681C>T c.(679-681)ccC>ccT p.P227P MX2_ENST00000543692.1_Silent_p.P182P NM_002463.1 NP_002454.1 P20592 MX2_HUMAN myxovirus (influenza virus) resistance 2 (mouse) 227 response to virus|type I interferon-mediated signaling pathway cytoplasm|nucleus GTP binding|GTPase activity breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 34 Prostate(19;1.57e-07)|all_epithelial(19;0.0222) TTGACCTTCCCGGCATCACCA 0.602000 9 78 0 0 0.008291 0 0 FGF19 9965 broad.mit.edu 37 11 69518109 69518109 + Missense_Mutation SNP C C T TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr11:69518109C>T ENST00000294312.3 - 2 1021 c.256G>A c.(256-258)Gct>Act p.A86T NM_005117.2 NP_005108.1 O95750 FGF19_HUMAN fibroblast growth factor 19 86 fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of bile acid biosynthetic process|nervous system development|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import|positive regulation of JNK cascade extracellular region fibroblast growth factor receptor binding|growth factor activity large_intestine(2)|lung(2)|skin(2) 6 all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348) Epithelial(3;3.05e-56)|all cancers(3;2.69e-50)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537) GTCCGCAGAGCGACTGCCTTG 0.677000 5 19 0 0 0.001984 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 55 0 0 0.004672 0 0 EXD2 55218 broad.mit.edu 37 14 69701570 69701570 + Missense_Mutation SNP C C G TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr14:69701570C>G ENST00000409014.1 + 7 1153 c.496C>G c.(496-498)Cca>Gca p.P166A EXD2_ENST00000409949.1_Missense_Mutation_p.P166A|EXD2_ENST00000409018.3_Missense_Mutation_p.P291A|EXD2_ENST00000312994.5_Missense_Mutation_p.P291A|EXD2_ENST00000449989.1_Missense_Mutation_p.P166A|EXD2_ENST00000409242.1_Missense_Mutation_p.P166A|EXD2_ENST00000409675.1_Missense_Mutation_p.P166A|EXD2_ENST00000492815.1_3'UTR NM_001193360.1 NP_001180289.1 Q9NVH0 EXD2_HUMAN exonuclease 3'-5' domain containing 2 166 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1) 14 GGTCGACATCCCATTTCGAAG 0.443000 9 45 0 0 0.000978 0 0 EVPL 2125 broad.mit.edu 37 17 74006565 74006565 + Silent SNP A A G TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr17:74006565A>G ENST00000301607.3 - 22 2974 c.2721T>C c.(2719-2721)ccT>ccC p.P907P EVPL_ENST00000586740.1_Silent_p.P929P NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 907 Central fibrous rod domain. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 CTGCTTGGGCAGGGCTCTCGG 0.642000 10 34 0 0 0.000978 0 0 THRA 7067 broad.mit.edu 37 17 38245690 38245690 + Missense_Mutation SNP T T G TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr17:38245690T>G ENST00000450525.2 + 9 1705 c.1214T>G c.(1213-1215)tTt>tGt p.F405C THRA_ENST00000264637.4_Intron|THRA_ENST00000546243.1_Missense_Mutation_p.F405C|THRA_ENST00000584985.1_Intron|THRA_ENST00000394121.4_Intron NM_199334.3 NP_955366.1 P10827 THA_HUMAN thyroid hormone receptor, alpha 0 negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter cytosol|nucleoplasm protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1) 11 Colorectal(19;0.000442) Myeloproliferative disorder(1115;0.0255) Levothyroxine(DB00451)|Liothyronine(DB00279) CTCGAGGTCTTTGAGGATCAG 0.637000 8 29 0 0 0.003080 0 0 UBIAD1 29914 broad.mit.edu 37 1 11345928 11345928 + Missense_Mutation SNP G G A TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr1:11345928G>A ENST00000376810.5 + 2 1083 c.757G>A c.(757-759)Ggc>Agc p.G253S UBIAD1_ENST00000376804.2_Intron NM_013319.2 NP_037451.1 Q9Y5Z9 UBIA1_HUMAN UbiA prenyltransferase domain containing 1 253 menaquinone biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus prenyltransferase activity endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3) 12 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487) CATCCTCATCGGCCCCACGTT 0.607000 13 93 0 0 0.001368 0 0 AQP1 358 broad.mit.edu 37 7 30951738 30951738 + Missense_Mutation SNP G G A TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr7:30951738G>A ENST00000311813.4 + 1 269 c.214G>A c.(214-216)Ggc>Agc p.G72S AQP1_ENST00000509504.1_Missense_Mutation_p.G249S|AQP1_ENST00000434909.2_Missense_Mutation_p.G132S NM_198098.2 NP_932766.1 aquaporin 1 kidney(1)|large_intestine(2)|lung(9) 12 Melanoma(862;0.16) CCACATCAGCGGCGCCCACCT 0.657000 6 50 0 0 0.001168 0 0 HIST1H2AM 8336 broad.mit.edu 37 6 27860847 27860847 + Silent SNP A A G TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr6:27860847A>G ENST00000359611.2 - 1 116 c.81T>C c.(79-81)ccT>ccC p.P27P HIST1H3J_ENST00000479986.1_5'UTR NM_003514.2 NP_003505.1 P0C0S8 H2A1_HUMAN histone cluster 1, H2am 27 nucleosome assembly nucleosome|nucleus DNA binding|enzyme binding endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(2) 14 CTCGTCCTACAGGAAATTGGA 0.647000 12 54 0 0 0.001368 0 0 PBX2 5089 broad.mit.edu 37 6 32155509 32155509 + Missense_Mutation SNP T T A TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr6:32155509T>A ENST00000375050.4 - 5 1055 c.785A>T c.(784-786)tAt>tTt p.Y262F NM_002586.4 NP_002577.2 P40425 PBX2_HUMAN pre-B-cell leukemia homeobox 2 262 transcription factor binding p.Y262F(3) endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2) 14 GGAGTAGAAATACTCATTTAG 0.517000 3 21 0 0 0.000248 0 0 KIAA0100 9703 broad.mit.edu 37 17 26968962 26968962 + Missense_Mutation SNP C C G TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr17:26968962C>G ENST00000528896.2 - 7 785 c.711G>C c.(709-711)caG>caC p.Q237H KIAA0100_ENST00000544884.1_Missense_Mutation_p.Q94H|KIAA0100_ENST00000389003.3_Missense_Mutation_p.Q94H NM_014680.3 NP_055495.2 Q14667 K0100_HUMAN KIAA0100 237 extracellular region breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3) 68 Lung NSC(42;0.00431) GCAGTTGGCTCTGGAAGAGGC 0.547000 15 63 0 0 0.003163 0 0 CLPB 81570 broad.mit.edu 37 11 72145270 72145270 + Missense_Mutation SNP G G T TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr11:72145270G>T ENST00000437826.2 - 1 156 c.7C>A c.(7-9)Cgc>Agc p.R3S CLPB_ENST00000543042.1_5'UTR|CLPB_ENST00000340729.5_Silent_p.L83L|CLPB_ENST00000445069.2_Intron|CLPB_ENST00000294053.3_Silent_p.L83L|CLPB_ENST00000538039.1_Silent_p.L83L Q9H078 CLPB_HUMAN ClpB caseinolytic peptidase B homolog (E. coli) 0 cellular response to heat ATP binding|nucleoside-triphosphatase activity|protein binding endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 19 TGGCAGCCGCGAGGCATTTGG 0.692000 OREG0021194 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 45 1.10923e-09 3.66046e-09 0.002780 1 0 IP6K3 117283 broad.mit.edu 37 6 33690810 33690810 + Missense_Mutation SNP C C T TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr6:33690810C>T ENST00000451316.1 - 7 1455 c.920G>A c.(919-921)cGg>cAg p.R307Q IP6K3_ENST00000293756.4_Missense_Mutation_p.R307Q NM_001142883.1 NP_001136355.1 Q96PC2 IP6K3_HUMAN inositol hexakisphosphate kinase 3 307 inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation cytoplasm ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity skin(1) 1 GAGGAGGGCCCGGAGCTGGTG 0.552000 4 38 0 0 0.000602 0 0 TBC1D17 79735 broad.mit.edu 37 19 50385367 50385367 + Silent SNP C C T TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr19:50385367C>T ENST00000221543.5 + 6 896 c.597C>T c.(595-597)caC>caT p.H199H TBC1D17_ENST00000535102.2_Silent_p.H166H NM_024682.2 NP_078958.2 Q9HA65 TBC17_HUMAN TBC1 domain family, member 17 199 intracellular Rab GTPase activator activity NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 15 all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017) ACTCCTTCCACCACCTGCAGC 0.647000 12 260 0 0 0.001368 0 0 DMXL2 23312 broad.mit.edu 37 15 51741321 51741321 + Nonsense_Mutation SNP G G A TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr15:51741321G>A ENST00000251076.5 - 43 9258 c.8971C>T c.(8971-8973)Cga>Tga p.R2991* RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Nonsense_Mutation_p.R2355*|DMXL2_ENST00000543779.2_Nonsense_Mutation_p.R2992* NM_001174116.1|NM_015263.3 NP_001167587.1|NP_056078.2 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 2991 cell junction|synaptic vesicle membrane Rab GTPase binding p.R2991*(2) breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) CCAATGTTTCGAAATATGGAC 0.438000 6 43 0 0 0.001168 0 0 DNAJC11 55735 broad.mit.edu 37 1 6699997 6699997 + Silent SNP C C G TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr1:6699997C>G ENST00000377577.5 - 11 1341 c.1218G>C c.(1216-1218)ctG>ctC p.L406L DNAJC11_ENST00000542246.1_Silent_p.L368L|DNAJC11_ENST00000349363.6_Intron|DNAJC11_ENST00000377573.5_Silent_p.L316L|DNAJC11_ENST00000294401.7_Intron|DNAJC11_ENST00000465508.1_5'UTR NM_018198.3 NP_060668.2 Q9NVH1 DJC11_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 11 406 protein folding heat shock protein binding|unfolded protein binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1) 32 Ovarian(185;0.0265)|all_lung(157;0.154) all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649) GTTTGATGATCAGACGGTGCA 0.522000 6 27 0 0 0.001168 0 0 SHANK1 50944 broad.mit.edu 37 19 51200915 51200915 + Missense_Mutation SNP C C T TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr19:51200915C>T ENST00000293441.1 - 13 1886 c.1868G>A c.(1867-1869)cGc>cAc p.R623H SHANK1_ENST00000391814.1_Missense_Mutation_p.R623H|SHANK1_ENST00000359082.3_Missense_Mutation_p.R623H NM_016148.2 NP_057232.2 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 623 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) CTTGTCACTGCGGCTTTCTGC 0.547000 11 82 0 0 0.000978 0 0 FCRL5 83416 broad.mit.edu 37 1 157494060 157494060 + Missense_Mutation SNP C C T TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr1:157494060C>T ENST00000368190.3 - 10 2340 c.2248G>A c.(2248-2250)Gcc>Acc p.A750T FCRL5_ENST00000368191.3_Missense_Mutation_p.A665T|FCRL5_ENST00000361835.3_Intron|FCRL5_ENST00000356953.4_Intron Q96RD9 FCRL5_HUMAN Fc receptor-like 5 0 integral to membrane|plasma membrane receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 85 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) GTGGGCAGGGCCCACTCACCT 0.552000 7 28 0 0 0.001984 0 0 SLC7A8 23428 broad.mit.edu 37 14 23609754 23609754 + Silent SNP G G A TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr14:23609754G>A ENST00000316902.7 - 5 1439 c.714C>T c.(712-714)ttC>ttT p.F238F SLC7A8_ENST00000453702.1_Silent_p.F35F|SLC7A8_ENST00000532568.1_5'UTR|SLC7A8_ENST00000422941.2_Intron|SLC7A8_ENST00000469263.1_Silent_p.F238F|SLC7A8_ENST00000529705.2_Silent_p.F133F NM_012244.3 NP_036376.2 Q9UHI5 LAT2_HUMAN solute carrier family 7 (amino acid transporter light chain, L system), member 8 238 blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin basolateral plasma membrane|cytoplasm|integral to plasma membrane neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1) 24 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.00809) L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120) AGCCCTGAAGGAAAGCCAGTG 0.502000 13 164 0 0 0.001855 0 0 CALCA 796 broad.mit.edu 37 11 14990412 14990412 + Missense_Mutation SNP C C T TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr11:14990412C>T ENST00000331587.4 - 4 477 c.359G>A c.(358-360)aGg>aAg p.R120K CALCA_ENST00000361010.3_Intron|CALCB_ENST00000523376.1_Intron|CALCA_ENST00000396372.2_Missense_Mutation_p.R120K|CALCA_ENST00000359642.3_Missense_Mutation_p.R120K|CALCA_ENST00000486207.1_Intron NM_001741.2 NP_001732.1 P06881 CALCA_HUMAN calcitonin-related polypeptide alpha 123 activation of adenylate cyclase activity|cell-cell signaling|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|endothelial cell migration|endothelial cell proliferation|leukocyte cell-cell adhesion|negative regulation of blood pressure|negative regulation of bone resorption|negative regulation of calcium ion transport into cytosol|negative regulation of osteoclast differentiation|neurological system process involved in regulation of systemic arterial blood pressure|positive regulation of interleukin-1 alpha production|positive regulation of interleukin-8 production|positive regulation of macrophage differentiation|positive regulation of vasodilation|regulation of blood pressure|vasculature development|vasodilation cytosol|extracellular space hormone activity central_nervous_system(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1) 8 Phentolamine(DB00692) GGACATATCCCTTTTCTTTCC 0.493000 22 97 0 0 0.001882 0 0 KIAA0196 9897 broad.mit.edu 37 8 126067886 126067886 + Missense_Mutation SNP T T C TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr8:126067886T>C ENST00000318410.7 - 17 2393 c.2044A>G c.(2044-2046)Att>Gtt p.I682V KIAA0196_ENST00000517845.1_Missense_Mutation_p.I534V NM_014846.3 NP_055661.3 Q12768 STRUM_HUMAN KIAA0196 682 cell death WASH complex NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 42 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) TCAGTAAAAATGGAAATAGCA 0.383000 29 113 0 0 0.001786 0 0 MYLK3 91807 broad.mit.edu 37 16 46766444 46766444 + Missense_Mutation SNP G G A TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr16:46766444G>A ENST00000394809.4 - 4 1253 c.1138C>T c.(1138-1140)Cgc>Tgc p.R380C MYLK3_ENST00000536476.1_Missense_Mutation_p.R39C NM_182493.2 NP_872299.2 Q32MK0 MYLK3_HUMAN myosin light chain kinase 3 380 cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis cytosol ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3) 37 all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) TGGAGGCAGCGCCCGGTCCCA 0.687000 7 25 0 0 0.003080 0 0 AR 367 broad.mit.edu 37 X 66765161 66765161 + Missense_Mutation SNP A A T rs71905623 TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chrX:66765161A>T ENST00000374690.3 + 1 697 c.173A>T c.(172-174)cAg>cTg p.Q58L AR_ENST00000504326.1_Missense_Mutation_p.Q58L|AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Missense_Mutation_p.Q58L NM_000044.3 NP_000035.2 P10275 ANDR_HUMAN androgen receptor 58 Gln-rich.|Modulating.|Poly-Gln. cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport cytoplasm|nuclear chromatin|nucleoplasm androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding p.Q58L(2) breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3) 67 all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102) all_lung(315;1.3e-11) Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624) CTGCTGCTgcagcagcagcag 0.667000 Androgen Insensitivity Syndrome 3 11 0 0 0.004672 0 0 ZNF17 7565 broad.mit.edu 37 19 57931031 57931031 + Missense_Mutation SNP G G A TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr19:57931031G>A ENST00000596400.1 + 4 299 c.207G>A c.(205-207)gaG>gaA p.69_69insE ZNF17_ENST00000307658.7_Silent_p.E59E|AC004076.7_ENST00000597410.1_Intron|ZNF17_ENST00000595206.1_3'UTR|ZNF17_ENST00000601808.1_Silent_p.E57E AGGATGAGGAGGCACCTTCCA 0.493000 16 65 0 0 0.004007 0 0 OR10AD1 121275 broad.mit.edu 37 12 48596393 48596393 + Missense_Mutation SNP C C T TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr12:48596393C>T ENST00000310248.2 - 1 777 c.683G>A c.(682-684)aGc>aAc p.S228N NM_001004134.1 NP_001004134.1 Q8NGE0 O10AD_HUMAN olfactory receptor, family 10, subfamily AD, member 1 228 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|urinary_tract(1) 9 GGAGGCTTTGCTGAGGATGGT 0.507000 7 41 0 0 0.001984 0 0 HOXC6 3223 broad.mit.edu 37 12 54422634 54422634 + Missense_Mutation SNP G G T TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr12:54422634G>T ENST00000394331.3 + 2 1793 c.83G>T c.(82-84)aGg>aTg p.R28M HOXC5_ENST00000512206.1_Intron|HOXC6_ENST00000243108.4_Missense_Mutation_p.R110M|HOXC4_ENST00000303406.4_Intron NM_153693.3 NP_710160.1 P09630 HXC6_HUMAN homeobox C6 110 regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 GAGCAGGGCAGGACTGCGCCC 0.468000 10 110 2.74318e-10 9.20593e-10 0.006214 1 0 CCKAR 886 broad.mit.edu 37 4 26483643 26483643 + Missense_Mutation SNP C C T TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr4:26483643C>T ENST00000295589.3 - 5 1098 c.904G>A c.(904-906)Gca>Aca p.A302T NM_000730.2 NP_000721.1 P32238 CCKAR_HUMAN cholecystokinin A receptor 302 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient integral to plasma membrane cholecystokinin receptor activity NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1) 29 Breast(46;0.0503) Ceruletide(DB00403) AGGTTGGCTGCGGAGCTGTTA 0.612000 25 123 0 0 0.006320 0 0 ACIN1 22985 broad.mit.edu 37 14 23532678 23532678 + Missense_Mutation SNP A A T TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr14:23532678A>T ENST00000262710.1 - 13 3205 c.2878T>A c.(2878-2880)Ttg>Atg p.L960M ACIN1_ENST00000557515.1_Missense_Mutation_p.L201M|ACIN1_ENST00000357481.2_Missense_Mutation_p.L202M|ACIN1_ENST00000338631.6_Missense_Mutation_p.L233M|ACIN1_ENST00000605057.1_Missense_Mutation_p.L902M|ACIN1_ENST00000457657.1_Missense_Mutation_p.L920M|ACIN1_ENST00000397341.3_Missense_Mutation_p.L202M|ACIN1_ENST00000555053.1_Missense_Mutation_p.L947M NM_001164814.1|NM_014977.3 NP_001158286.1|NP_055792.1 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 960 apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 37 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) GGTGGGGGCAAGGCCACCTCT 0.517000 18 44 0 0 0.004990 0 0 SLC28A1 9154 broad.mit.edu 37 15 85488064 85488064 + Missense_Mutation SNP G G C TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr15:85488064G>C ENST00000394573.1 + 18 2042 c.1840G>C c.(1840-1842)Gag>Cag p.E614Q SLC28A1_ENST00000538177.1_Missense_Mutation_p.E448Q|SLC28A1_ENST00000537624.1_Missense_Mutation_p.E614Q|SLC28A1_ENST00000537216.1_Intron|SLC28A1_ENST00000286749.3_Missense_Mutation_p.E614Q NM_004213.3 NP_004204.3 O00337 S28A1_HUMAN solute carrier family 28 (concentrative nucleoside transporter), member 1 614 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(143;0.0587) CAGTAGCTTTGAGATTTACCA 0.592000 14 48 0 0 0.002450 0 0 DNAH7 56171 broad.mit.edu 37 2 196729451 196729451 + Missense_Mutation SNP G G C TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr2:196729451G>C ENST00000312428.6 - 41 7028 c.6928C>G c.(6928-6930)Ccc>Gcc p.P2310A NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2310 AAA 4 (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 AGGTTCATGGGTTTTTTGCTT 0.433000 7 104 0 0 0.001984 0 0 MICALL1 85377 broad.mit.edu 37 22 38328571 38328571 + Missense_Mutation SNP C C G TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr22:38328571C>G ENST00000215957.6 + 11 2154 c.2028C>G c.(2026-2028)gaC>gaG p.D676E MICALL1_ENST00000402631.1_3'UTR NM_033386.3 NP_203744.1 Q8N3F8 MILK1_HUMAN MICAL-like 1 676 cytoplasm|cytoskeleton protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 24 Melanoma(58;0.045) TCCAGGCTGACCAGTACATCC 0.632000 14 70 0 0 0.004007 0 0 WFDC8 90199 broad.mit.edu 37 20 44180733 44180733 + Missense_Mutation SNP C C G TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr20:44180733C>G ENST00000357199.4 - 6 736 c.658G>C c.(658-660)Gag>Cag p.E220Q WFDC8_ENST00000289953.2_Missense_Mutation_p.E220Q NM_181510.2 NP_852611.2 Q8IUA0 WFDC8_HUMAN WAP four-disulfide core domain 8 220 WAP 3. extracellular region serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1) 15 Myeloproliferative disorder(115;0.0122) GGGCACTCCTCATCCTGCAGG 0.423000 13 89 0 0 0.001855 0 0 SLC13A4 26266 broad.mit.edu 37 7 135390963 135390963 + Missense_Mutation SNP C C T TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr7:135390963C>T ENST00000354042.4 - 4 1140 c.451G>A c.(451-453)Gtg>Atg p.V151M NM_012450.2 NP_036582.2 Q9UKG4 S13A4_HUMAN solute carrier family 13 (sodium/sulfate symporter), member 4 151 integral to plasma membrane sodium:sulfate symporter activity p.V151M(1) breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2) 24 ACGGCCTCCACGATGGGCATC 0.612000 10 59 0 0 0.008291 0 0 DUSP2 1844 broad.mit.edu 37 2 96809654 96809654 + Missense_Mutation SNP C C T TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr2:96809654C>T ENST00000288943.4 - 4 938 c.853G>A c.(853-855)Gac>Aac p.D285N NM_004418.3 NP_004409.1 Q05923 DUS2_HUMAN dual specificity phosphatase 2 285 Tyrosine-protein phosphatase. endoderm formation|inactivation of MAPK activity|regulation of apoptosis nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity NS(1)|breast(1)|lung(2)|skin(1) 5 Ovarian(717;0.0228) TTAACGAAGTCAAAGGCCTCG 0.622000 7 21 0 0 0.001984 0 0 KCNH5 27133 broad.mit.edu 37 14 63468148 63468148 + Missense_Mutation SNP C C T TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr14:63468148C>T ENST00000322893.7 - 4 602 c.334G>A c.(334-336)Gca>Aca p.A112T KCNH5_ENST00000394964.2_Missense_Mutation_p.A54T|KCNH5_ENST00000420622.2_Missense_Mutation_p.A112T|KCNH5_ENST00000394968.1_Missense_Mutation_p.A54T NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 112 PAC. regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) CTTATTGGTGCAATTTGCATA 0.423000 4 20 0 0 0.000602 0 0 SLCO2B1 11309 broad.mit.edu 37 11 74904300 74904300 + Silent SNP C C T TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr11:74904300C>T ENST00000289575.5 + 9 1508 c.1113C>T c.(1111-1113)ccC>ccT p.P371P SLCO2B1_ENST00000428359.2_Silent_p.P349P|SLCO2B1_ENST00000525650.1_Silent_p.P227P|SLCO2B1_ENST00000531756.1_Silent_p.P116P|SLCO2B1_ENST00000454962.2_Silent_p.P144P|SLCO2B1_ENST00000532236.1_Silent_p.P255P|SLCO2B1_ENST00000341411.4_Silent_p.P144P NM_007256.4 NP_009187.1 O94956 SO2B1_HUMAN solute carrier organic anion transporter family, member 2B1 371 sodium-independent organic anion transport integral to membrane sodium-independent organic anion transmembrane transporter activity breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 39 Ergoloid mesylate(DB01049) TACGCCACCCCATCTTCCTGC 0.627000 19 80 0 0 0.007413 0 0 RP11-24M17.5 0 broad.mit.edu 37 15 76074470 76074470 + RNA SNP A A G TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr15:76074470A>G ENST00000395215.3 + 0 649 p.Q203R(4) CGGTTACAGCAGACCATAAAG 0.577000 4 38 0 0 0.004482 0 0 ZNF568 374900 broad.mit.edu 37 19 37440779 37440779 + Nonsense_Mutation SNP C C T TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr19:37440779C>T ENST00000415168.1 + 5 908 c.532C>T c.(532-534)Cga>Tga p.R178* ZNF568_ENST00000333987.7_Nonsense_Mutation_p.R242*|ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000427117.1_Intron NM_001204837.1 NP_001191766.1 Q3ZCX4 ZN568_HUMAN zinc finger protein 568 242 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1) 29 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TAGACATGAGCGAATTCATGC 0.378000 7 46 0 0 0.001984 0 0 CYP1B1 1545 broad.mit.edu 37 2 38302533 38302533 + Splice_Site SNP C C T TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr2:38302533C>T ENST00000260630.3 - 2 401 c.e2-1 CYP1B1_ENST00000494864.1_Intron|CYP1B1_ENST00000407341.1_Splice_Site NM_000104.3 NP_000095.2 Q16678 CP1B1_HUMAN cytochrome P450, family 1, subfamily B, polypeptide 1 visual perception|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1) 13 all_hematologic(82;0.21) Estrone(DB00655) GGTGCCCATGCTGGGGACAGA 0.667000 7 40 0 0 0.001984 0 0 ZNF618 114991 broad.mit.edu 37 9 116750680 116750680 + Missense_Mutation SNP G G C TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr9:116750680G>C ENST00000288466.7 + 3 256 c.157G>C c.(157-159)Gag>Cag p.E53Q ZNF618_ENST00000374126.5_Missense_Mutation_p.E53Q NM_133374.2 NP_588615.2 Q5T7W0 ZN618_HUMAN zinc finger protein 618 53 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|lung(10)|urinary_tract(1) 16 GCTGAGTGCCGAGCAAGGAAC 0.612000 6 22 0 0 0.001168 0 0 IGHV3-30 28439 broad.mit.edu 37 14 106791284 106791284 + RNA SNP C C T TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr14:106791284C>T ENST00000390613.2 - 0 151 CCCCAGACTCCACCAGCTGCA 0.552000 10 237 0 0 0.003163 0 0 LAD1 3898 broad.mit.edu 37 1 201358343 201358343 + Missense_Mutation SNP C C T rs138881525 TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr1:201358343C>T ENST00000391967.2 - 2 428 c.127G>A c.(127-129)Gat>Aat p.D43N LAD1_ENST00000367313.3_Missense_Mutation_p.D57N NM_005558.3 NP_005549.2 O00515 LAD1_HUMAN ladinin 1 43 basement membrane structural molecule activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2) 19 GGAGCCTCATCGTCCGTGGTG 0.642000 8 34 0 0 0.003080 0 0 GRIK1 2897 broad.mit.edu 37 21 30934006 30934006 + Nonsense_Mutation SNP G G T TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr21:30934006G>T ENST00000399914.1 - 14 2771 c.2250C>A c.(2248-2250)tgC>tgA p.C750* GRIK1_ENST00000327783.4_Nonsense_Mutation_p.C765*|GRIK1_ENST00000309434.7_Nonsense_Mutation_p.C767*|GRIK1_ENST00000399909.1_Nonsense_Mutation_p.C750*|GRIK1_ENST00000389124.2_Nonsense_Mutation_p.C765*|GRIK1_ENST00000399913.1_Nonsense_Mutation_p.C765*|GRIK1_ENST00000535441.1_Nonsense_Mutation_p.C767*|GRIK1_ENST00000389125.3_Nonsense_Mutation_p.C750*|GRIK1_ENST00000399907.1_Nonsense_Mutation_p.C765* P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 765 central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 45 L-Glutamic Acid(DB00142)|Topiramate(DB00273) GAGTGAGGTTGCAGTTTCTCT 0.507000 11 58 7.03913e-09 2.28483e-08 0.001368 1 0 GPRC5A 9052 broad.mit.edu 37 12 13061574 13061574 + Silent SNP C C T TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr12:13061574C>T ENST00000014914.5 + 2 1281 c.391C>T c.(391-393)Ctg>Ttg p.L131L GPRC5A_ENST00000542056.1_Intron NM_003979.3 NP_003970.1 Q8NFJ5 RAI3_HUMAN G protein-coupled receptor, family C, group 5, member A 131 cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane G-protein coupled receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 18 Prostate(47;0.141) BRCA - Breast invasive adenocarcinoma(232;0.0708) Tretinoin(DB00755) GCCCCTTTCCCTGTTGGTGAT 0.522000 48 183 0 0 0.003610 0 0 TRIM50 135892 broad.mit.edu 37 7 72730600 72730600 + Missense_Mutation SNP T T C TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr7:72730600T>C ENST00000333149.2 - 6 1038 c.838A>G c.(838-840)Acc>Gcc p.T280A TRIM50_ENST00000453152.1_Missense_Mutation_p.T280A NM_178125.2 NP_835226.1 Q86XT4 TRI50_HUMAN tripartite motif containing 50 280 B30.2/SPRY. cytoplasm|intracellular membrane-bounded organelle ligase activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2) 20 TTCCACACGGTCAGCTTGATG 0.617000 8 42 0 0 0.003080 0 0 TLDC1 57707 broad.mit.edu 37 16 84520478 84520478 + Silent SNP G G T TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr16:84520478G>T ENST00000343629.6 - 5 899 c.717C>A c.(715-717)ggC>ggA p.G239G TLDC1_ENST00000535580.1_Silent_p.G212G NM_020947.3 NP_065998.3 TBC/LysM-associated domain containing 1 CAAAACCCCTGCCCTGGTCCA 0.567000 9 32 0.000274275 0.000862008 0.004482 1 0 CNTRL 11064 broad.mit.edu 37 9 123860779 123860779 + Missense_Mutation SNP C C T TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr9:123860779C>T ENST00000373855.1 + 7 997 c.737C>T c.(736-738)tCa>tTa p.S246L CNTRL_ENST00000238341.5_Missense_Mutation_p.S246L|CNTRL_ENST00000373865.2_Missense_Mutation_p.S246L Q7Z7A1 CNTRL_HUMAN centriolin 246 LRRCT. cell division|G2/M transition of mitotic cell cycle centrosome|cytosol protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3) 20 CACCTCCGTTCATTGGAAAGT 0.373000 8 27 0 0 0.004482 0 0 TUFM 7284 broad.mit.edu 37 16 28855381 28855381 + Missense_Mutation SNP C C T TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr16:28855381C>T ENST00000313511.3 - 8 1102 c.964G>A c.(964-966)Gga>Aga p.G322R NM_003321.4 NP_003312.3 P49411 EFTU_HUMAN Tu translation elongation factor, mitochondrial 319 mitochondrial nucleoid GTP binding|GTPase activity|protein binding|translation elongation factor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 13 AGGTTATCTCCGGCCTCGGCC 0.607000 10 59 0 0 0.008291 0 0 TENM3 55714 broad.mit.edu 37 4 183721257 183721257 + Missense_Mutation SNP C C T TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr4:183721257C>T ENST00000511685.1 + 28 7976 c.7853C>T c.(7852-7854)gCg>gTg p.A2618V TENM3_ENST00000406950.2_Missense_Mutation_p.A2618V teneurin transmembrane protein 3 GAGGAGAAGGCGCGCATCCTG 0.751000 4 11 0 0 0.000602 0 0 PARP3 10039 broad.mit.edu 37 3 51978492 51978492 + Silent SNP C C A TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr3:51978492C>A ENST00000417220.2 + 5 887 c.399C>A c.(397-399)acC>acA p.T133T PARP3_ENST00000398755.3_Silent_p.T140T|PARP3_ENST00000431474.1_Silent_p.T133T Q9Y6F1 PARP3_HUMAN poly (ADP-ribose) polymerase family, member 3 133 DNA repair|protein ADP-ribosylation centriole|nucleus NAD+ ADP-ribosyltransferase activity|protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) GGGAAAAGACCAAGAACAACT 0.517000 29 107 7.01153e-11 2.39359e-10 0.007291 1 0 DVL1 1855 broad.mit.edu 37 1 1273937 1273937 + Missense_Mutation SNP A A C TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr1:1273937A>C ENST00000378888.5 - 12 1588 c.1304T>G c.(1303-1305)aTg>aGg p.M435R DVL1_ENST00000378891.5_Missense_Mutation_p.M410R O14640 DVL1_HUMAN dishevelled segment polarity protein 1 435 DEP. canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome frizzled binding|identical protein binding|protein kinase binding|signal transducer activity endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 13 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) CTTGAGCCACATGCGGTCGCG 0.672000 10 41 0 0 0.008291 0 0 B3GNT3 10331 broad.mit.edu 37 19 17918902 17918902 + Nonsense_Mutation SNP C C T TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr19:17918902C>T ENST00000318683.6 + 2 433 c.286C>T c.(286-288)Cag>Tag p.Q96* B3GNT3_ENST00000595387.1_Nonsense_Mutation_p.Q96* NM_014256.3 NP_055071.2 Q9Y2A9 B3GN3_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 96 protein glycosylation Golgi membrane|integral to plasma membrane galactosyltransferase activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 21 TCCCCTGCTGCAGGACGTGCC 0.637000 4 27 0 0 0.000248 0 0 CABP7 164633 broad.mit.edu 37 22 30125152 30125152 + Missense_Mutation SNP G G A TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr22:30125152G>A ENST00000216144.3 + 4 816 c.475G>A c.(475-477)Gag>Aag p.E159K NM_182527.2 NP_872333.1 Q86V35 CABP7_HUMAN calcium binding protein 7 159 Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane calcium ion binding lung(1)|skin(3) 4 OV - Ovarian serous cystadenocarcinoma(5;0.00442)|Epithelial(10;0.215)|all cancers(5;0.233) GACGGAGGAGGAGAGCCACCT 0.617000 6 21 0 0 0.001168 0 0 ANKRD30BP2 149992 broad.mit.edu 37 21 14414844 14414844 + RNA SNP T T C rs148060711 by1000genomes TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr21:14414844T>C ENST00000507941.1 + 0 95 ACTGGGCCTGTGCCAATGGCC 0.433000 3 50 0 0 0.001168 0 0 BCHE 590 broad.mit.edu 37 3 165547361 165547361 + Silent SNP G G A rs74458984 TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr3:165547361G>A ENST00000264381.3 - 2 1627 c.1461C>T c.(1459-1461)gcC>gcT p.A487A BCHE_ENST00000540653.1_Intron NM_000055.2 NP_000046.1 P06276 CHLE_HUMAN butyrylcholinesterase 487 choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic endoplasmic reticulum lumen|extracellular space|membrane acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1) 55 Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116) AAATTTCCTCGGCTTTTGTGT 0.403000 20 53 0 0 0.008871 0 0 SP8 221833 broad.mit.edu 37 7 20824941 20824943 + In_Frame_Del DEL GCC GCC - TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr7:20824941_20824943delGCC ENST00000361443.4 - 3 676_678 c.439_441delGGC c.(439-441)del p.G147del SP8_ENST00000418710.2_In_Frame_Del_p.G165del NM_198956.2 NP_945194.1 Q8IXZ3 SP8_HUMAN Sp8 transcription factor 147 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G165delG(1)|p.G147delG(1) NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 8 GCGCGGAGGAgccgccgccgccg 0.729 4 4 --- --- --- --- TEK 7010 broad.mit.edu 37 9 27220064 27220064 + Frame_Shift_Del DEL G G - TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr9:27220064delG ENST00000380036.4 + 21 3563 c.3121delG c.(3121-3123)ggfs p.G1041fs TEK_ENST00000519097.1_Frame_Shift_Del_p.G893fs|TEK_ENST00000406359.4_Frame_Shift_Del_p.G998fs NM_000459.3 NP_000450.2 Q02763 TIE2_HUMAN TEK tyrosine kinase, endothelial 1041 Protein kinase. angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3) 15 all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255) Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027) ACCCTACTGCGGGATGACTTG 0.527 27 89 --- --- --- --- LRRC26 389816 broad.mit.edu 37 9 140063896 140063896 + Frame_Shift_Del DEL G G - TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr9:140063896delG ENST00000371542.3 - 1 607 c.500delC c.(499-501)cgfs p.P167fs RP11-350O14.18_ENST00000568665.1_RNA NM_001013653.2 NP_001013675.1 Q2I0M4 LRC26_HUMAN leucine rich repeat containing 26 167 cytoplasm|cytoskeleton|voltage-gated potassium channel complex ion channel activity|potassium channel regulator activity|protein binding all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858) GCGCAGCAGCGGGAGCGCGCC 0.756 2 4 --- --- --- --- C16orf71 146562 broad.mit.edu 37 16 4796953 4796955 + In_Frame_Del DEL GAG GAG - TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr16:4796953_4796955delGAG ENST00000299320.5 + 8 1685_1687 c.1207_1209delGAG c.(1207-1209)del p.E409del RP11-127I20.7_ENST00000588099.1_RNA|C16orf71_ENST00000590191.1_In_Frame_Del_p.E426del NM_139170.2 NP_631909.2 Q8IYS4 CP071_HUMAN chromosome 16 open reading frame 71 409 p.E403delE(1) breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1) 11 CTCTGACAGTGAGGAGGAGGAGG 0.611 3 5 --- --- --- --- KIZ-AS1 101929591 broad.mit.edu 37 20 21146788 21146789 + RNA INS - - T rs34056823 TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr20:21146788_21146789insT ENST00000591761.1 - 0 5051 PLK1S1_ENST00000457464.1_RNA tgtattttGTATTTTTTTTTTT 0.401 5 5 --- --- --- ---