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 CXADRP3 0 broad.mit.edu 37 18 14478155 14478155 + RNA SNP C C T TCGA-DU-6404-02A-21D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e938b4c-fcb0-429e-88e9-ced190dcf6d1 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr18:14478155C>T ENST00000581457.1 - 0 1753 NR_024076.1 ACAGATGAGACGTATGGAGGC 0.413000 8 18 0 0 1 0 0 BTN2A3P 0 broad.mit.edu 37 6 26422353 26422353 + RNA SNP C C T rs141013110 TCGA-DU-6404-02A-21D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e938b4c-fcb0-429e-88e9-ced190dcf6d1 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr6:26422353C>T ENST00000466808.2 + 0 7 p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 3 44 0 0 1 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125547539 125547539 + Missense_Mutation SNP G G C TCGA-DU-6404-02A-21D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e938b4c-fcb0-429e-88e9-ced190dcf6d1 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr2:125547539G>C ENST00000431078.1 + 18 3174 c.2810G>C c.(2809-2811)gGa>gCa p.G937A NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 937 Laminin G-like 3. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) CACTTGAATGGACAGAAAATG 0.507000 15 30 0 0 1 0 0 CREBBP 1387 broad.mit.edu 37 16 3789628 3789628 + Missense_Mutation SNP C C G TCGA-DU-6404-02A-21D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e938b4c-fcb0-429e-88e9-ced190dcf6d1 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr16:3789628C>G ENST00000262367.5 - 25 5040 c.4231G>C c.(4231-4233)Gga>Cga p.G1411R CREBBP_ENST00000382070.3_Missense_Mutation_p.G1373R NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 1411 Cys/His-rich. cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding p.G1411R(1) NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) ACGTGCATTCCAAAAAAGCAG 0.488000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 15 36 0 0 1 0 0 ARHGEF1 0 broad.mit.edu 37 19 42406041 42406041 + Silent SNP G G A TCGA-DU-6404-02A-21D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e938b4c-fcb0-429e-88e9-ced190dcf6d1 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr19:42406041G>A ENST00000599846.1 + 16 1565 c.1440G>A c.(1438-1440)ctG>ctA p.L480L ARHGEF1_ENST00000337665.4_Silent_p.L439L|ARHGEF1_ENST00000354532.3_Silent_p.L424L|ARHGEF1_ENST00000347545.4_Silent_p.L391L|ARHGEF1_ENST00000378152.4_Silent_p.L406L Q92888 ARHG1_HUMAN Rho guanine nucleotide exchange factor (GEF) 1 424 DH. cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction cytosol|plasma membrane GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425) Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644) CTGCAGAGCTGCTGGTGACAG 0.627000 9 12 0 0 1 0 0 KRTAP9-8 83901 broad.mit.edu 37 17 39394482 39394482 + Missense_Mutation SNP T T C TCGA-DU-6404-02A-21D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e938b4c-fcb0-429e-88e9-ced190dcf6d1 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr17:39394482T>C ENST00000254072.6 + 1 186 c.179T>C c.(178-180)aTc>aCc p.I60T NM_031963.2 NP_114169.2 Q9BYQ0 KRA98_HUMAN keratin associated protein 9-8 60 15 X 5 AA repeats of C-C-[RQVSGE]- [SPSNQ]-[TASPI]. keratin filament lung(8)|ovary(1)|prostate(1) 10 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) TGCCAGCCCATCTGTGTGACC 0.637000 4 87 0 0 1 0 0 UGT2B11 10720 broad.mit.edu 37 4 70074085 70074085 + Missense_Mutation SNP G G A TCGA-DU-6404-02A-21D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e938b4c-fcb0-429e-88e9-ced190dcf6d1 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr4:70074085G>A ENST00000446444.1 - 3 994 c.986C>T c.(985-987)gCc>gTc p.A329V RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA NM_001073.1 NP_001064.1 O75310 UDB11_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B11 329 estrogen metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 42 TGGGATCTTGGCAAGGGCTGT 0.423000 8 266 0 0 1 0 0 RP11-1166P10.6 0 broad.mit.edu 37 16 32070612 32070612 + RNA SNP A A C TCGA-DU-6404-02A-21D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e938b4c-fcb0-429e-88e9-ced190dcf6d1 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr16:32070612A>C ENST00000566806.1 - 0 499 GGTCTCCTGCAAGGCTTCTGG 0.552000 3 63 0 0 1 0 0 CACNA1D 776 broad.mit.edu 37 3 53757877 53757877 + Missense_Mutation SNP G G A TCGA-DU-6404-02A-21D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e938b4c-fcb0-429e-88e9-ced190dcf6d1 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr3:53757877G>A ENST00000288139.3 + 15 2129 c.2011G>A c.(2011-2013)Gct>Act p.A671T CACNA1D_ENST00000422281.2_Missense_Mutation_p.A651T|CACNA1D_ENST00000350061.5_Missense_Mutation_p.A651T NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit 651 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) GAAGTCCATCGCTTCGCTGTT 0.443000 4 120 0 0 1 0 0 SF3B3 23450 broad.mit.edu 37 16 70564682 70564682 + Silent SNP G G A TCGA-DU-6404-02A-21D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e938b4c-fcb0-429e-88e9-ced190dcf6d1 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr16:70564682G>A ENST00000302516.5 + 4 643 c.432G>A c.(430-432)ttG>ttA p.L144L NM_012426.4 NP_036558.3 Q15393 SF3B3_HUMAN splicing factor 3b, subunit 3, 130kDa 144 protein complex assembly catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex nucleic acid binding|protein binding breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 53 Ovarian(137;0.0694) TGTATATTTTGAACAGAGATG 0.408000 47 87 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124293451 124293451 + Missense_Mutation SNP T T C TCGA-DU-6404-02A-21D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e938b4c-fcb0-429e-88e9-ced190dcf6d1 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr12:124293451T>C ENST00000409039.3 + 18 2766 c.2741T>C c.(2740-2742)aTc>aCc p.I914T NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 914 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) ACAAATGAGATCGACAAGATG 0.488000 6 203 0 0 1 0 0 DCLRE1A 9937 broad.mit.edu 37 10 115610018 115610018 + Silent SNP T T C TCGA-DU-6404-02A-21D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e938b4c-fcb0-429e-88e9-ced190dcf6d1 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr10:115610018T>C ENST00000361384.2 - 2 1763 c.846A>G c.(844-846)gaA>gaG p.E282E DCLRE1A_ENST00000369305.1_Silent_p.E282E NM_014881.3 NP_055696.3 Q6PJP8 DCR1A_HUMAN DNA cross-link repair 1A 282 cell division|mitosis nucleus hydrolase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1) 31 Epithelial(162;0.0157)|all cancers(201;0.0171) AATTTATGTGTTCTGAGTTGT 0.378000 Other identified genes with known or suspected DNA repair function 3 95 0 0 1 0 0 RASGRP1 10125 broad.mit.edu 37 15 38852091 38852091 + Missense_Mutation SNP C C T TCGA-DU-6404-02A-21D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e938b4c-fcb0-429e-88e9-ced190dcf6d1 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr15:38852091C>T ENST00000310803.5 - 2 328 c.151G>A c.(151-153)Gtg>Atg p.V51M RASGRP1_ENST00000450598.2_Missense_Mutation_p.V51M|RASGRP1_ENST00000539159.1_Missense_Mutation_p.V3M|RASGRP1_ENST00000561180.1_Missense_Mutation_p.V102M|RASGRP1_ENST00000559830.1_Missense_Mutation_p.V51M|RASGRP1_ENST00000558164.1_Missense_Mutation_p.V51M NM_001128602.1|NM_005739.3 NP_001122074.1|NP_005730.2 O95267 GRP1_HUMAN RAS guanyl releasing protein 1 (calcium and DAG-regulated) 51 cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574) GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248) CCCAGAGACACCATCATTCGG 0.527000 7 29 0 0 1 0 0 TRBV11-1 0 broad.mit.edu 37 7 142224222 142224222 + RNA SNP C C A TCGA-DU-6404-02A-21D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e938b4c-fcb0-429e-88e9-ced190dcf6d1 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr7:142224222C>A ENST00000390367.3 - 0 62 GACACACCTGCCCCCAGGAGA 0.498000 13 22 1.49906e-05 1.54518e-05 1 1 0 ATP6AP1 537 broad.mit.edu 37 X 153660193 153660193 + Silent SNP C C T TCGA-DU-6404-02A-21D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e938b4c-fcb0-429e-88e9-ced190dcf6d1 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chrX:153660193C>T ENST00000369762.2 + 3 367 c.306C>T c.(304-306)ttC>ttT p.F102F ATP6AP1_ENST00000484908.1_3'UTR NM_001183.4 NP_001174.2 Q15904 VAS1_HUMAN ATPase, H+ transporting, lysosomal accessory protein 1 102 ATP hydrolysis coupled proton transport integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5) 14 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TTGAGGATTTCACAGCATATG 0.552000 OREG0003605 type=REGULATORY REGION|Gene=ATP6AP1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 18 367 0 0 1 0 0 SMG1 23049 broad.mit.edu 37 16 18863478 18863478 + Missense_Mutation SNP T T C TCGA-DU-6404-02A-21D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e938b4c-fcb0-429e-88e9-ced190dcf6d1 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr16:18863478T>C ENST00000446231.2 - 33 5375 c.4963A>G c.(4963-4965)Aat>Gat p.N1655D SMG1_ENST00000389467.3_Missense_Mutation_p.N1655D Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 1655 FAT.|Interaction with SMG8 and SMG9. DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 GGAAGTAGATTCTGAACTTCA 0.423000 4 54 0 0 1 0 0 ABHD4 63874 broad.mit.edu 37 14 23072633 23072633 + Missense_Mutation SNP C C A rs34793476 TCGA-DU-6404-02A-21D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e938b4c-fcb0-429e-88e9-ced190dcf6d1 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr14:23072633C>A ENST00000428304.2 + 3 521 c.451C>A c.(451-453)Ctg>Atg p.L151M ABHD4_ENST00000544562.1_3'UTR NM_022060.2 NP_071343.2 Q8TB40 ABHD4_HUMAN abhydrolase domain containing 4 151 lipid catabolic process hydrolase activity breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(3)|prostate(1) 14 all_cancers(95;5.49e-05) GBM - Glioblastoma multiforme(265;0.0153) GGGAGGATTCCTGGCCACTTC 0.522000 29 60 1.74197e-06 1.82363e-06 1 1 0 TMCO3 55002 broad.mit.edu 37 13 114156116 114156116 + Missense_Mutation SNP C C T TCGA-DU-6404-02A-21D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e938b4c-fcb0-429e-88e9-ced190dcf6d1 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr13:114156116C>T ENST00000434316.2 + 5 1225 c.866C>T c.(865-867)aCa>aTa p.T289I TMCO3_ENST00000375391.1_Missense_Mutation_p.T289I|TMCO3_ENST00000474393.1_3'UTR NM_017905.4 NP_060375.4 Q6UWJ1 TMCO3_HUMAN transmembrane and coiled-coil domains 3 289 integral to membrane solute:hydrogen antiporter activity NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1) 25 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983) all cancers(43;0.0317) TGGCTATGTACAGCCATAGGA 0.358000 6 83 0 0 1 0 0 NDUFV2 4729 broad.mit.edu 37 18 9122540 9122540 + Missense_Mutation SNP G G A TCGA-DU-6404-02A-21D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e938b4c-fcb0-429e-88e9-ced190dcf6d1 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr18:9122540G>A ENST00000400033.1 + 6 456 c.339G>A c.(337-339)atG>atA p.M113I RP11-143J12.2_ENST00000583081.1_RNA|RP11-143J12.2_ENST00000582375.1_RNA|NDUFV2_ENST00000465096.1_3'UTR|NDUFV2_ENST00000318388.6_Missense_Mutation_p.M110I|RP11-21J18.1_ENST00000579126.1_RNA P19404 NDUV2_HUMAN NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa 110 cardiac muscle tissue development|mitochondrial electron transport, NADH to ubiquinone|nervous system development|transport mitochondrial respiratory chain complex I 2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity breast(1)|lung(4)|ovary(1)|stomach(1) 7 NADH(DB00157) TACCTCCAATGAGAGTATATG 0.328000 4 152 0 0 1 0 0 CEP350 9857 broad.mit.edu 37 1 180023027 180023027 + Missense_Mutation SNP A A G TCGA-DU-6404-02A-21D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e938b4c-fcb0-429e-88e9-ced190dcf6d1 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr1:180023027A>G ENST00000367607.3 + 24 5550 c.5132A>G c.(5131-5133)gAg>gGg p.E1711G NM_014810.4 NP_055625.4 Q5VT06 CE350_HUMAN centrosomal protein 350kDa 1711 centrosome|nucleus|spindle central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 66 GCCTTGAAGGAGAAGACTAAG 0.393000 4 58 0 0 1 0 0 FAM5C 0 broad.mit.edu 37 1 190203514 190203514 + Missense_Mutation SNP T T A TCGA-DU-6404-02A-21D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e938b4c-fcb0-429e-88e9-ced190dcf6d1 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr1:190203514T>A ENST00000367462.3 - 5 943 c.712A>T c.(712-714)Att>Ttt p.I238F FAM5C_ENST00000534846.1_Missense_Mutation_p.I136F|FAM5C_ENST00000484105.1_5'UTR NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 238 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) TGCAACTGAATCTTATTCTCA 0.383000 21 26 0 0 1 0 0 SH3RF2 153769 broad.mit.edu 37 5 145442014 145442014 + Missense_Mutation SNP A A G TCGA-DU-6404-02A-21D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e938b4c-fcb0-429e-88e9-ced190dcf6d1 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr5:145442014A>G ENST00000511217.1 + 9 1992 c.1940A>G c.(1939-1941)aAt>aGt p.N647S SH3RF2_ENST00000359120.4_Missense_Mutation_p.N647S|SH3RF2_ENST00000511705.1_3'UTR Q8TEC5 SH3R2_HUMAN SH3 domain containing ring finger 2 647 ligase activity|protein phosphatase 1 binding|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1) 22 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AGATTTCAGAATTACAGCCCT 0.542000 7 81 0 0 1 0 0 MIR3654 0 broad.mit.edu 37 11 62349058 62349058 + Missense_Mutation SNP T T G TCGA-DU-6404-02A-21D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e938b4c-fcb0-429e-88e9-ced190dcf6d1 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr11:62349058T>G ENST00000496634.2 - 3 434 c.389A>C c.(388-390)gAg>gCg p.E130A TUT1_ENST00000308436.7_Missense_Mutation_p.E168A|TUT1_ENST00000476907.1_Missense_Mutation_p.E130A NS(1) 1 GCTCTGGAACTCCTTCTGCTC 0.652000 8 27 0 0 1 0 0 NPIPA1 9284 broad.mit.edu 37 16 15045628 15045628 + Missense_Mutation SNP T T C TCGA-DU-6404-02A-21D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e938b4c-fcb0-429e-88e9-ced190dcf6d1 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr16:15045628T>C ENST00000328085.6 + 8 799 c.799T>C c.(799-801)Tcc>Ccc p.S267P NPIPA1_ENST00000472413.1_3'UTR NM_006985.2 NP_008916.2 nuclear pore complex interacting protein family, member A1 p.S267P(2) CAAGACACCTTCCGAGTGTCT 0.517000 3 34 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-DU-6404-02A-21D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e938b4c-fcb0-429e-88e9-ced190dcf6d1 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.532000 T MLL ALL 7 63 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39806385 39806385 + Missense_Mutation SNP A A G TCGA-DU-6404-02A-21D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e938b4c-fcb0-429e-88e9-ced190dcf6d1 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr1:39806385A>G ENST00000564288.1 + 39 11204 c.10427A>G c.(10426-10428)gAa>gGa p.E3476G MACF1_ENST00000372915.3_Missense_Mutation_p.E3481G|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.E1916G|MACF1_ENST00000567887.1_Missense_Mutation_p.E3513G Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 3481 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GTGGAAATAGAAAAGGTAGCA 0.398000 12 22 0 0 1 0 0 SMOC1 64093 broad.mit.edu 37 14 70477663 70477663 + Splice_Site SNP G G A TCGA-DU-6404-02A-21D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e938b4c-fcb0-429e-88e9-ced190dcf6d1 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr14:70477663G>A ENST00000381280.4 + 8 1110 c.857_splice c.e8+1 p.R286_splice SMOC1_ENST00000361956.3_Splice_Site_p.R286_splice NM_001034852.2|NM_022137.5 NP_001030024.1|NP_071420.1 Q9H4F8 SMOC1_HUMAN SPARC related modular calcium binding 1 286 Thyroglobulin type-1 2. cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction basement membrane calcium ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028) ACCTCCACACGGTAAGCCCCC 0.617000 3 35 0 0 1 0 0 UBC 7316 broad.mit.edu 37 12 125397652 125397652 + Silent SNP T T C rs146795524 TCGA-DU-6404-02A-21D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e938b4c-fcb0-429e-88e9-ced190dcf6d1 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr12:125397652T>C ENST00000536769.1 - 1 2242 c.666A>G c.(664-666)gtA>gtG p.V222V UBC_ENST00000546120.1_Silent_p.V146V|UBC_ENST00000538617.1_Intron|UBC_ENST00000339647.5_Silent_p.V222V P0CG48 UBC_HUMAN ubiquitin C 222 Ubiquitin-like 3. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) TGAGACGGAGTACCAGGTGCA 0.512000 4 91 0 0 1 0 0 RAD21 5885 broad.mit.edu 37 8 117878948 117878948 + Silent SNP A A G TCGA-DU-6404-02A-21D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e938b4c-fcb0-429e-88e9-ced190dcf6d1 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr8:117878948A>G ENST00000297338.2 - 2 308 c.21T>C c.(19-21)gtT>gtC p.V7V RAD21_ENST00000523547.1_5'UTR NM_006265.2 NP_006256.1 O60216 RAD21_HUMAN RAD21 homolog (S. pombe) 7 apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm protein binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1) 32 all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172) TTTTACTGAGAACAAAATGTG 0.408000 3 30 0 0 1 0 0 ADD1 118 broad.mit.edu 37 4 2877779 2877779 + Missense_Mutation SNP G G A TCGA-DU-6404-02A-21D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e938b4c-fcb0-429e-88e9-ced190dcf6d1 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr4:2877779G>A ENST00000355842.3 + 3 1000 c.137G>A c.(136-138)cGc>cAc p.R46H ADD1_ENST00000446856.1_Missense_Mutation_p.R46H|ADD1_ENST00000398125.1_Missense_Mutation_p.R46H|ADD1_ENST00000503455.2_Missense_Mutation_p.R46H|ADD1_ENST00000398123.2_Missense_Mutation_p.R46H|ADD1_ENST00000264758.7_Missense_Mutation_p.R46H|ADD1_ENST00000513328.2_Missense_Mutation_p.R46H|ADD1_ENST00000398129.1_Missense_Mutation_p.R46H P35611 ADDA_HUMAN adducin 1 (alpha) 46 actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding cytosol|F-actin capping protein complex|nucleus|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2) 22 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CCAGACCTTCGCCAGGACTTC 0.517000 16 24 0 0 1 0 0 FPR1 2357 broad.mit.edu 37 19 52250087 52250087 + Missense_Mutation SNP C C T rs145808420 TCGA-DU-6404-02A-21D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e938b4c-fcb0-429e-88e9-ced190dcf6d1 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr19:52250087C>T ENST00000595042.1 - 3 302 c.161G>A c.(160-162)cGg>cAg p.R54Q FPR1_ENST00000304748.4_Missense_Mutation_p.R54Q NM_001193306.1 NP_001180235.1 P21462 FPR1_HUMAN formyl peptide receptor 1 54 activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction endosome|integral to membrane|plasma membrane N-formyl peptide receptor activity endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3) 20 all_neural(266;0.0189)|Medulloblastoma(540;0.146) GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018) Nedocromil(DB00716) GTGTGTCATCCGGAATCCAGC 0.527000 11 32 0 0 1 0 0 ABL1 25 broad.mit.edu 37 9 133730389 133730389 + Missense_Mutation SNP G G A TCGA-DU-6404-02A-21D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e938b4c-fcb0-429e-88e9-ced190dcf6d1 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr9:133730389G>A ENST00000318560.5 + 3 836 c.455G>A c.(454-456)cGt>cAt p.R152H NM_005157.4 NP_005148.2 P00519 ABL1_HUMAN c-abl oncogene 1, non-receptor tyrosine kinase 152 SH2. actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 1195 all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.4e-05) Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619) TTCTTGGTGCGTGAGAGTGAG 0.557000 """T, Mis""" """BCR, ETV6, NUP214""" """CML, ALL, T-ALL""" 4 54 0 0 1 0 0 OR51F2 119694 broad.mit.edu 37 11 4842972 4842972 + Silent SNP C C T TCGA-DU-6404-02A-21D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e938b4c-fcb0-429e-88e9-ced190dcf6d1 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr11:4842972C>T ENST00000322110.5 + 1 422 c.357C>T c.(355-357)caC>caT p.H119H MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001004753.1 NP_001004753.1 Q8NH61 O51F2_HUMAN olfactory receptor, family 51, subfamily F, member 2 119 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) TCTTTCTACACGGATTTACTT 0.468000 52 85 0 0 1 0 0 MBNL3 55796 broad.mit.edu 37 X 131573597 131573597 + Silent SNP G G A TCGA-DU-6404-02A-21D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e938b4c-fcb0-429e-88e9-ced190dcf6d1 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chrX:131573597G>A ENST00000370857.3 - 1 108 c.43C>T c.(43-45)Ctg>Ttg p.L15L MBNL3_ENST00000370853.3_Silent_p.L15L|MBNL3_ENST00000370839.3_Silent_p.L15L|MBNL3_ENST00000370844.1_5'UTR Q9NUK0 MBNL3_HUMAN muscleblind-like splicing regulator 3 15 mRNA processing|multicellular organismal development|regulation of RNA splicing|RNA splicing Golgi apparatus|nucleus nucleic acid binding|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|prostate(2) 16 Acute lymphoblastic leukemia(192;0.000127) TCTAAAGTCAGCCACTTGGTA 0.418000 63 135 0 0 1 0 0 CREB3L3 84699 broad.mit.edu 37 19 4171818 4171818 + Missense_Mutation SNP A A C TCGA-DU-6404-02A-21D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e938b4c-fcb0-429e-88e9-ced190dcf6d1 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr19:4171818A>C ENST00000078445.2 + 10 1385 c.1238A>C c.(1237-1239)aAt>aCt p.N413T CREB3L3_ENST00000602257.1_Missense_Mutation_p.N411T|CREB3L3_ENST00000602147.1_3'UTR|CREB3L3_ENST00000595923.1_Missense_Mutation_p.N412T|CREB3L3_ENST00000252587.3_3'UTR NM_001271995.1|NM_001271996.1|NM_032607.1 NP_001258924.1|NP_001258925.1|NP_115996.1 Q68CJ9 CR3L3_HUMAN cAMP responsive element binding protein 3-like 3 413 response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3) 24 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18) AACCTGACCAATTCGACGGAG 0.682000 5 65 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367767 145367767 + Missense_Mutation SNP G G A rs77484671 TCGA-DU-6404-02A-21D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e938b4c-fcb0-429e-88e9-ced190dcf6d1 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr1:145367767G>A ENST00000342960.5 + 83 10398 c.10363G>A c.(10363-10365)Gaa>Aaa p.E3455K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3455 p.E3455K(5) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) atcaaagaaggaaagaagaag 0.423000 5 53 0 0 1 0 0 KIF1C 10749 broad.mit.edu 37 17 4910336 4910336 + Missense_Mutation SNP C C T rs139663513 TCGA-DU-6404-02A-21D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e938b4c-fcb0-429e-88e9-ced190dcf6d1 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr17:4910336C>T ENST00000320785.5 + 14 1649 c.1292C>T c.(1291-1293)aCg>aTg p.T431M NM_006612.5 NP_006603.2 O43896 KIF1C_HUMAN kinesin family member 1C 431 microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER endoplasmic reticulum|Golgi apparatus|microtubule ATP binding|microtubule motor activity NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3) 30 TCCCCCAACACGGAGTCCCAG 0.612000 4 89 0 0 1 0 0 CTSG 1511 broad.mit.edu 37 14 25043508 25043508 + Silent SNP G G A TCGA-DU-6404-02A-21D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e938b4c-fcb0-429e-88e9-ced190dcf6d1 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr14:25043508G>A ENST00000216336.2 - 4 573 c.537C>T c.(535-537)taC>taT p.Y179Y NM_001911.2 NP_001902.1 P08311 CATG_HUMAN cathepsin G 179 Peptidase S1. immune response|proteolysis cell surface|extracellular space|plasma membrane|stored secretory granule heparin binding|serine-type endopeptidase activity p.Y179Y(1) autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1) 25 GBM - Glioblastoma multiforme(265;0.0269) TTCGGGGGTCGTAGGAACCGA 0.627000 9 30 0 0 1 0 0 UNC13B 10497 broad.mit.edu 37 9 35389942 35389942 + Missense_Mutation SNP A A G TCGA-DU-6404-02A-21D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e938b4c-fcb0-429e-88e9-ced190dcf6d1 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr9:35389942A>G ENST00000378495.3 + 24 3169 c.2947A>G c.(2947-2949)Aag>Gag p.K983E UNC13B_ENST00000396787.1_Missense_Mutation_p.K995E|UNC13B_ENST00000378496.4_Missense_Mutation_p.K983E NM_006377.3 NP_006368.3 O14795 UN13B_HUMAN unc-13 homolog B (C. elegans) 983 excretion|induction of apoptosis|intracellular signal transduction cell junction|Golgi apparatus|synapse metal ion binding|receptor activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(49;0.212) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194) AGAGGAAGATAAGAATTCCTA 0.493000 7 94 0 0 1 0 0 IQSEC2 23096 broad.mit.edu 37 X 53279873 53279873 + Missense_Mutation SNP G G A TCGA-DU-6404-02A-21D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e938b4c-fcb0-429e-88e9-ced190dcf6d1 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chrX:53279873G>A ENST00000396435.3 - 5 2085 c.1885C>T c.(1885-1887)Cat>Tat p.H629Y IQSEC2_ENST00000375368.5_Missense_Mutation_p.H619Y|IQSEC2_ENST00000375365.2_Missense_Mutation_p.H424Y NM_001111125.2 NP_001104595.1 Q5JU85 IQEC2_HUMAN IQ motif and Sec7 domain 2 619 Pro-rich. regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1) 29 AGGGTCCCATGGGGGCTGCAG 0.677000 10 22 0 0 1 0 0 HDLBP 3069 broad.mit.edu 37 2 242186209 242186209 + Silent SNP G G A TCGA-DU-6404-02A-21D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e938b4c-fcb0-429e-88e9-ced190dcf6d1 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr2:242186209G>A ENST00000391975.1 - 16 2135 c.1908C>T c.(1906-1908)tgC>tgT p.C636C HDLBP_ENST00000427183.2_Silent_p.C603C|HDLBP_ENST00000391976.2_Silent_p.C636C|HDLBP_ENST00000310931.4_Silent_p.C636C NM_203346.3 NP_976221.1 Q00341 VIGLN_HUMAN high density lipoprotein binding protein 636 KH 7. cholesterol metabolic process|lipid transport cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane lipid binding|protein binding|RNA binding breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928) GGGCAGCTTCGCAGTTGGCTC 0.458000 38 71 0 0 1 0 0 MRPL13 28998 broad.mit.edu 37 8 121426350 121426350 + Splice_Site SNP T T C TCGA-DU-6404-02A-21D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e938b4c-fcb0-429e-88e9-ced190dcf6d1 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr8:121426350T>C ENST00000306185.3 - 6 686 c.393_splice c.e6-1 p.Y132_splice NM_014078.5 NP_054797.2 Q9BYD1 RM13_HUMAN mitochondrial ribosomal protein L13 132 translation mitochondrial large ribosomal subunit protein binding|structural constituent of ribosome central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1) 6 Lung NSC(37;1.69e-07)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00503) TTCTGGAATATACTACATTAA 0.269000 6 16 0 0 1 0 0 NR3C2 0 broad.mit.edu 37 4 149357147 149357147 + Missense_Mutation SNP T T C TCGA-DU-6404-02A-21D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e938b4c-fcb0-429e-88e9-ced190dcf6d1 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr4:149357147T>C ENST00000355292.3 - 2 1228 c.866A>G c.(865-867)aAt>aGt p.N289S NR3C2_ENST00000358102.3_Missense_Mutation_p.N289S|NR3C2_ENST00000512865.1_Missense_Mutation_p.N289S|NR3C2_ENST00000344721.4_Missense_Mutation_p.N289S|NR3C2_ENST00000342437.4_Missense_Mutation_p.N289S|NR3C2_ENST00000511528.1_Missense_Mutation_p.N289S P08235 MCR_HUMAN nuclear receptor subfamily 3, group C, member 2 289 Modulating. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor endoplasmic reticulum membrane|nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0614) Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421) AGTGACATTATTGGGACTGGA 0.458000 5 43 0 0 1 0 0 PRKG1 5592 broad.mit.edu 37 10 54031166 54031166 + Silent SNP T T C TCGA-DU-6404-02A-21D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e938b4c-fcb0-429e-88e9-ced190dcf6d1 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr10:54031166T>C ENST00000373980.4 + 11 1647 c.1230T>C c.(1228-1230)cgT>cgC p.R410R PRKG1_ENST00000373975.2_Silent_p.R113R|PRKG1-AS1_ENST00000426785.2_RNA|PRKG1_ENST00000373985.1_Silent_p.R383R|PRKG1-AS1_ENST00000452247.2_RNA|PRKG1_ENST00000401604.2_Silent_p.R395R NM_006258.3 NP_006249.1 Q13976 KGP1_HUMAN protein kinase, cGMP-dependent, type I 395 Protein kinase. actin cytoskeleton organization|platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 53 all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173) all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606) TCAAGAAACGTCACATTGTGG 0.443000 4 48 0 0 1 0 0 PREPL 9581 broad.mit.edu 37 2 44586810 44586810 + Silent SNP A A G TCGA-DU-6404-02A-21D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e938b4c-fcb0-429e-88e9-ced190dcf6d1 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr2:44586810A>G ENST00000409936.1 - 2 482 c.45T>C c.(43-45)agT>agC p.S15S PREPL_ENST00000260648.6_Silent_p.S15S|PREPL_ENST00000378520.3_Silent_p.S15S|PREPL_ENST00000409411.1_Intron|PREPL_ENST00000409957.1_Intron|PREPL_ENST00000541738.1_Intron|PREPL_ENST00000410081.1_Silent_p.S15S|PREPL_ENST00000409272.1_Silent_p.S15S|PREPL_ENST00000540817.1_Intron|PREPL_ENST00000378511.3_Silent_p.S15S NM_001171606.1 NP_001165077.1 Q4J6C6 PPCEL_HUMAN prolyl endopeptidase-like 15 proteolysis cytosol serine-type endopeptidase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2) 33 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) GGTGAGGAATACTATACTTCA 0.363000 5 76 0 0 1 0 0 PIK3R1 5295 broad.mit.edu 37 5 67591258 67591258 + Missense_Mutation SNP C C G TCGA-DU-6404-02A-21D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e938b4c-fcb0-429e-88e9-ced190dcf6d1 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr5:67591258C>G ENST00000521381.1 + 14 2372 c.1756C>G c.(1756-1758)Caa>Gaa p.Q586E PIK3R1_ENST00000336483.5_Missense_Mutation_p.Q316E|PIK3R1_ENST00000396611.1_Missense_Mutation_p.Q586E|PIK3R1_ENST00000521657.1_Missense_Mutation_p.Q586E|PIK3R1_ENST00000320694.8_Missense_Mutation_p.Q286E|PIK3R1_ENST00000523872.1_Missense_Mutation_p.Q223E|PIK3R1_ENST00000274335.5_Missense_Mutation_p.Q586E NM_181523.2 NP_852664.1 P27986 P85A_HUMAN phosphoinositide-3-kinase, regulatory subunit 1 (alpha) 586 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.M582_D605>I(4)|p.Y580fs*1(1)|p.0?(1)|p.?(1) breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 178 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) GTGGTTGACTCAAAAAGGTGT 0.358000 """Mis, F, O""" """gliobastoma, ovarian, colorectal""" TCGA GBM(4;<1E-08) 12 36 0 0 1 0 0 SPP1 6696 broad.mit.edu 37 4 88901213 88901213 + Missense_Mutation SNP C C T TCGA-DU-6404-02A-21D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e938b4c-fcb0-429e-88e9-ced190dcf6d1 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr4:88901213C>T ENST00000237623.7 + 4 257 c.109C>T c.(109-111)Cca>Tca p.P37S SPP1_ENST00000360804.4_Intron|SPP1_ENST00000395080.3_Missense_Mutation_p.P37S|SPP1_ENST00000509659.1_3'UTR NM_000582.2 NP_000573.1 P10451 OSTP_HUMAN secreted phosphoprotein 1 37 biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D extracellular space cytokine activity NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1) 13 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;9.87e-05) CAACAAATACCCAGATGCTGT 0.363000 19 44 0 0 1 0 0 MKI67 4288 broad.mit.edu 37 10 129905742 129905742 + Silent SNP G G A TCGA-DU-6404-02A-21D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e938b4c-fcb0-429e-88e9-ced190dcf6d1 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr10:129905742G>A ENST00000368654.3 - 13 4737 c.4362C>T c.(4360-4362)caC>caT p.H1454H MKI67_ENST00000368653.3_Silent_p.H1094H NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 1454 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) TAGTTTTTGGGTGCCTCTTGC 0.493000 8 191 0 0 1 0 0 POTEH 23784 broad.mit.edu 37 22 16287843 16287843 + Missense_Mutation SNP T T C TCGA-DU-6404-02A-21D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e938b4c-fcb0-429e-88e9-ced190dcf6d1 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr22:16287843T>C ENST00000343518.6 - 1 94 c.43A>G c.(43-45)Aag>Gag p.K15E NM_001136213.1 NP_001129685.1 Q6S545 POTEH_HUMAN POTE ankyrin domain family, member H 15 NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2) 37 AATGGCTTCTTCACAGAGGAG 0.592000 7 409 0 0 1 0 0 DBC1 0 broad.mit.edu 37 9 121930179 121930179 + Missense_Mutation SNP T T C TCGA-DU-6404-02A-21D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e938b4c-fcb0-429e-88e9-ced190dcf6d1 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr9:121930179T>C ENST00000265922.3 - 8 1930 c.1469A>G c.(1468-1470)tAc>tGc p.Y490C DBC1_ENST00000482797.1_Intron NM_014618.2 NP_055433.2 O60477 DBC1_HUMAN 490 cell cycle arrest|cell death cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 CTGCAGCAGGTACTTCAGCTC 0.582000 3 37 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-DU-6404-02A-21D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e938b4c-fcb0-429e-88e9-ced190dcf6d1 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S168S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.537000 T MLL ALL 6 64 0 0 1 0 0 WISP2 8839 broad.mit.edu 37 20 43355792 43355792 + Missense_Mutation SNP G G A TCGA-DU-6404-02A-21D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e938b4c-fcb0-429e-88e9-ced190dcf6d1 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr20:43355792G>A ENST00000372865.4 + 3 858 c.350G>A c.(349-351)cGg>cAg p.R117Q RP11-445H22.4_ENST00000445420.1_RNA|WISP2_ENST00000471629.1_3'UTR|RP11-445H22.4_ENST00000427598.1_RNA|WISP2_ENST00000190983.4_Silent_p.T199T|RP11-445H22.4_ENST00000427303.1_RNA|WISP2_ENST00000372868.2_Silent_p.T199T O76076 WISP2_HUMAN WNT1 inducible signaling pathway protein 2 108 VWFC. cell adhesion|cell-cell signaling|signal transduction extracellular region|soluble fraction insulin-like growth factor binding skin(1) 1 Myeloproliferative disorder(115;0.0122) AATGGAGCACGGCCTGGGGAC 0.652000 6 63 0 0 1 0 0 ETS2 2114 broad.mit.edu 37 21 40190520 40190520 + Missense_Mutation SNP T T C TCGA-DU-6404-02A-21D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e938b4c-fcb0-429e-88e9-ced190dcf6d1 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr21:40190520T>C ENST00000360214.3 + 8 1221 c.761T>C c.(760-762)gTc>gCc p.V254A ETS2_ENST00000360938.3_Missense_Mutation_p.V254A NM_001256295.1 NP_001243224.1 P15036 ETS2_HUMAN v-ets avian erythroblastosis virus E26 oncogene homolog 2 254 positive regulation of transcription, DNA-dependent|skeletal system development nucleus protein binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 18 Prostate(19;6.33e-08)|all_epithelial(19;0.123) TACTGCTCTGTCAGTCAGGAC 0.512000 25 216 0 0 1 0 0 RPS27A 6233 broad.mit.edu 37 2 55462648 55462648 + Missense_Mutation SNP T T C TCGA-DU-6404-02A-21D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e938b4c-fcb0-429e-88e9-ced190dcf6d1 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr2:55462648T>C ENST00000272317.6 + 6 730 c.406T>C c.(406-408)Ttt>Ctt p.F136L RPS27A_ENST00000402285.3_Missense_Mutation_p.F136L|RPS27A_ENST00000404735.1_Missense_Mutation_p.F136L NM_002954.5 NP_002945.1 P62979 RS27A_HUMAN ribosomal protein S27a 136 activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane metal ion binding|structural constituent of ribosome cervix(1)|ovary(1)|urinary_tract(1) 3 GGCAAGTCACTTTGACAGACA 0.403000 5 106 0 0 1 0 0 SIGLEC6 946 broad.mit.edu 37 19 52034613 52034613 + Silent SNP C C A TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr19:52034613C>A ENST00000346477.3 - 2 296 c.228G>T c.(226-228)gtG>gtT p.V76V SIGLEC6_ENST00000425629.3_Silent_p.V76V|SIGLEC6_ENST00000343300.4_Silent_p.V76V|SIGLEC6_ENST00000391797.3_Silent_p.V76V|SIGLEC6_ENST00000436458.1_Silent_p.V40V|SIGLEC6_ENST00000359982.4_Silent_p.V76V NM_198845.4 NP_942142.3 O43699 SIGL6_HUMAN sialic acid binding Ig-like lectin 6 76 Ig-like V-type. cell adhesion|cell-cell signaling cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1) 28 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165) CGTTTGTGGCCACTGGAACAT 0.582000 25 26 3.01185e-09 3.50026e-09 1 1 0 CXADRP3 0 broad.mit.edu 37 18 14478155 14478155 + RNA SNP C C T TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr18:14478155C>T ENST00000581457.1 - 0 1753 NR_024076.1 ACAGATGAGACGTATGGAGGC 0.413000 11 16 0 0 1 0 0 FASN 2194 broad.mit.edu 37 17 80045904 80045904 + Missense_Mutation SNP A A G TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr17:80045904A>G ENST00000306749.2 - 18 3010 c.2792T>C c.(2791-2793)gTg>gCg p.V931A NM_004104.4 NP_004095.4 P49327 FAS_HUMAN fatty acid synthase 931 energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process cytosol|Golgi apparatus|melanosome|plasma membrane 3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1) 34 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237) Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339) CTCCAGGGACACTGTCCCTGC 0.667000 21 27 0 0 1 0 0 HECW2 57520 broad.mit.edu 37 2 197182005 197182005 + Silent SNP G G C TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr2:197182005G>C ENST00000260983.2 - 10 2609 c.2427C>G c.(2425-2427)ctC>ctG p.L809L HECW2_ENST00000409111.1_Silent_p.L453L NM_020760.1 NP_065811.1 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 809 Interaction with TP73.|WW 1. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 CACTTGGTGGGAGAGCCTCGT 0.522000 3 6 0 0 1 0 0 CDHR5 53841 broad.mit.edu 37 11 618674 618674 + Missense_Mutation SNP C C T rs140290184 by1000genomes TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr11:618674C>T ENST00000358353.3 - 14 2207 c.1885G>A c.(1885-1887)Ggt>Agt p.G629S CDHR5_ENST00000397542.2_Missense_Mutation_p.G629S|CDHR5_ENST00000349570.7_Intron Q9HBB8 CDHR5_HUMAN cadherin-related family member 5 629 4 X 31 AA approximate tandem repeats. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2) 23 GTGCCCCCACCGGGTGTGGTT 0.652000 43 290 0 0 1 0 0 TBXAS1 6916 broad.mit.edu 37 7 139611031 139611031 + Missense_Mutation SNP C C G TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr7:139611031C>G ENST00000263552.6 + 8 785 c.247C>G c.(247-249)Ctt>Gtt p.L83V TBXAS1_ENST00000455353.1_Missense_Mutation_p.L82V|TBXAS1_ENST00000425687.1_Missense_Mutation_p.L15V|TBXAS1_ENST00000539806.1_Missense_Mutation_p.L83V|TBXAS1_ENST00000458722.1_Missense_Mutation_p.L82V|TBXAS1_ENST00000416849.2_Missense_Mutation_p.L83V|TBXAS1_ENST00000436047.2_Missense_Mutation_p.L83V|TBXAS1_ENST00000336425.5_Missense_Mutation_p.L82V|TBXAS1_ENST00000448866.1_Missense_Mutation_p.L82V|TBXAS1_ENST00000414508.2_Missense_Mutation_p.L83V|TBXAS1_ENST00000411653.1_Missense_Mutation_p.L82V|TBXAS1_ENST00000462275.1_3'UTR NM_001130966.2 NP_001124438.1 P24557 THAS_HUMAN thromboxane A synthase 1 (platelet) 82 hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 Melanoma(164;0.0142) CAGGTACTATCTTGGTCGTCG 0.378000 7 95 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 39063928 39063928 + Nonsense_Mutation SNP C C T TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr19:39063928C>T ENST00000355481.4 + 95 14226 c.14095C>T c.(14095-14097)Cga>Tga p.R4699* RYR1_ENST00000360985.3_Nonsense_Mutation_p.R4699*|RYR1_ENST00000359596.3_Nonsense_Mutation_p.R4704* NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 4704 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GCAGTGGGACCGACTGGTGCT 0.612000 15 9 0 0 1 0 0 PRIM1 5557 broad.mit.edu 37 12 57135548 57135548 + Missense_Mutation SNP T T A TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr12:57135548T>A ENST00000338193.6 - 8 858 c.822A>T c.(820-822)aaA>aaT p.K274N NM_000946.2 NP_000937.1 P49642 PRI1_HUMAN primase, DNA, polypeptide 1 (49kDa) 274 DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|nucleoplasm DNA primase activity|metal ion binding kidney(1)|lung(6)|prostate(1) 8 TGCTGGCTACTTTCTTCAAGT 0.363000 73 94 0 0 1 0 0 SCN11A 11280 broad.mit.edu 37 3 38945493 38945493 + Missense_Mutation SNP C C A TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr3:38945493C>A ENST00000302328.3 - 12 1903 c.1705G>T c.(1705-1707)Gtc>Ttc p.V569F SCN11A_ENST00000444237.2_Missense_Mutation_p.V569F|SCN11A_ENST00000450244.1_Missense_Mutation_p.V569F|SCN11A_ENST00000456224.3_Missense_Mutation_p.V569F NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 569 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) GTTCTCAGGACCTTCTTAACG 0.498000 25 23 2.41591e-17 2.96812e-17 1 1 0 ZFHX3 463 broad.mit.edu 37 16 72822210 72822210 + Missense_Mutation SNP T T C TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr16:72822210T>C ENST00000268489.5 - 10 10637 c.9965A>G c.(9964-9966)cAg>cGg p.Q3322R ZFHX3_ENST00000397992.5_Missense_Mutation_p.Q2408R NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3322 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) GCCAGGGATCTGGGGAGCATA 0.597000 19 19 0 0 1 0 0 CDKL5 6792 broad.mit.edu 37 X 18622720 18622720 + Missense_Mutation SNP G G A TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chrX:18622720G>A ENST00000379989.3 + 13 1961 c.1676G>A c.(1675-1677)cGa>cAa p.R559Q CDKL5_ENST00000463994.1_3'UTR|CDKL5_ENST00000379996.3_Missense_Mutation_p.R559Q NM_001037343.1 NP_001032420.1 O76039 CDKL5_HUMAN cyclin-dependent kinase-like 5 559 neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation dendrite cytoplasm|dendritic growth cone|nucleus ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1) 44 Hepatocellular(33;0.183) GACTCACGTCGAACCACAACC 0.517000 60 112 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39806385 39806385 + Missense_Mutation SNP A A G TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr1:39806385A>G ENST00000564288.1 + 39 11204 c.10427A>G c.(10426-10428)gAa>gGa p.E3476G MACF1_ENST00000476350.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.E3513G|MACF1_ENST00000372915.3_Missense_Mutation_p.E3481G|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.E1916G|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 3481 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GTGGAAATAGAAAAGGTAGCA 0.398000 14 2 0 0 1 0 0 RASGRP1 10125 broad.mit.edu 37 15 38852091 38852091 + Missense_Mutation SNP C C T TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr15:38852091C>T ENST00000310803.5 - 2 328 c.151G>A c.(151-153)Gtg>Atg p.V51M RASGRP1_ENST00000539159.1_Missense_Mutation_p.V3M|RASGRP1_ENST00000561180.1_Missense_Mutation_p.V102M|RASGRP1_ENST00000558164.1_Missense_Mutation_p.V51M|RASGRP1_ENST00000559830.1_Missense_Mutation_p.V51M|RASGRP1_ENST00000450598.2_Missense_Mutation_p.V51M NM_001128602.1|NM_005739.3 NP_001122074.1|NP_005730.2 O95267 GRP1_HUMAN RAS guanyl releasing protein 1 (calcium and DAG-regulated) 51 cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574) GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248) CCCAGAGACACCATCATTCGG 0.527000 16 27 0 0 1 0 0 ABCA12 26154 broad.mit.edu 37 2 215875098 215875098 + Missense_Mutation SNP A A G TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr2:215875098A>G ENST00000272895.7 - 18 2648 c.2429T>C c.(2428-2430)tTg>tCg p.L810S ABCA12_ENST00000389661.4_Missense_Mutation_p.L492S NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 810 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) TGGTGCATACAAAATTCTTCC 0.363000 10 53 0 0 1 0 0 C1orf116 79098 broad.mit.edu 37 1 207196624 207196624 + Missense_Mutation SNP C C A TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr1:207196624C>A ENST00000359470.5 - 4 734 c.485G>T c.(484-486)gGg>gTg p.G162V C1orf116_ENST00000461135.2_5'UTR NM_023938.5 NP_076427.2 Q9BW04 SARG_HUMAN chromosome 1 open reading frame 116 162 cytoplasm|plasma membrane receptor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1) 29 Prostate(682;0.19) CGCAAGCCTCCCCGGTTCTCC 0.602000 23 57 1.50039e-11 1.79213e-11 1 1 0 GPR128 84873 broad.mit.edu 37 3 100374763 100374763 + Missense_Mutation SNP G G T TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr3:100374763G>T ENST00000273352.3 + 13 2015 c.1747G>T c.(1747-1749)Gct>Tct p.A583S GPR128_ENST00000481506.1_3'UTR|GPR128_ENST00000475887.1_Missense_Mutation_p.A288S NM_032787.2 NP_116176.2 Q96K78 GP128_HUMAN G protein-coupled receptor 128 583 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 56 TATAGTAGTGGCTATAACAGT 0.318000 6 58 0.000157383 0.000170609 1 1 0 NFATC3 4775 broad.mit.edu 37 16 68156046 68156046 + Missense_Mutation SNP A A T TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr16:68156046A>T ENST00000349223.5 + 2 484 c.260A>T c.(259-261)gAa>gTa p.E87V NFATC3_ENST00000575270.1_Missense_Mutation_p.E87V|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000346183.3_Missense_Mutation_p.E87V|NFATC3_ENST00000329524.4_Missense_Mutation_p.E87V|RP11-67A1.2_ENST00000548144.1_RNA NM_173163.2 NP_775186.1 Q12968 NFAC3_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3 87 inflammatory response|transcription from RNA polymerase II promoter nucleolus|plasma membrane DNA binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 44 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24) AAAAACTATGAAGGAACTTGT 0.403000 7 89 0 0 1 0 0 FPR1 2357 broad.mit.edu 37 19 52250087 52250087 + Missense_Mutation SNP C C T rs145808420 TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr19:52250087C>T ENST00000595042.1 - 3 302 c.161G>A c.(160-162)cGg>cAg p.R54Q FPR1_ENST00000304748.4_Missense_Mutation_p.R54Q NM_001193306.1 NP_001180235.1 P21462 FPR1_HUMAN formyl peptide receptor 1 54 activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction endosome|integral to membrane|plasma membrane N-formyl peptide receptor activity endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3) 20 all_neural(266;0.0189)|Medulloblastoma(540;0.146) GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018) Nedocromil(DB00716) GTGTGTCATCCGGAATCCAGC 0.527000 20 24 0 0 1 0 0 PRPH 5630 broad.mit.edu 37 12 49690976 49690976 + Missense_Mutation SNP C C A TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr12:49690976C>A ENST00000257860.4 + 5 2415 c.916C>A c.(916-918)Cgc>Agc p.R306S RP11-161H23.9_ENST00000553259.1_RNA NM_006262.3 NP_006253.2 P41219 PERI_HUMAN peripherin 306 Coil 2.|Rod. structural molecule activity kidney(1)|large_intestine(2)|lung(8)|skin(1) 12 CGAGGCCCTGCGCCAGGCCAA 0.667000 OREG0021790 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 63 54 6.20203e-27 7.84375e-27 1 1 0 PLAC1L 0 broad.mit.edu 37 11 59811058 59811058 + Silent SNP C C A TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr11:59811058C>A ENST00000278855.2 + 2 366 c.181C>A c.(181-183)Cgg>Agg p.R61R PLAC1L_ENST00000532905.1_Silent_p.R30R NM_173801.3 NP_776162.2 Q86WS3 PLACL_HUMAN 61 extracellular region p.R61R(1) breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1) 15 CCCTGCAAATCGGATACATAC 0.388000 33 25 2.80507e-11 3.31976e-11 1 1 0 KCTD17 79734 broad.mit.edu 37 22 37457617 37457617 + Missense_Mutation SNP G G A TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr22:37457617G>A ENST00000403888.3 + 8 845 c.844G>A c.(844-846)Gca>Aca p.A282T KCTD17_ENST00000402077.3_Missense_Mutation_p.A258T Q8N5Z5 KCD17_HUMAN potassium channel tetramerization domain containing 17 282 Pro-rich. voltage-gated potassium channel complex identical protein binding|voltage-gated potassium channel activity NS(1)|breast(1)|endometrium(1)|lung(1)|prostate(1) 5 GGCTGAGCTTGCAGTGAGGGC 0.692000 10 11 0 0 1 0 0 CUL5 8065 broad.mit.edu 37 11 107904570 107904570 + Missense_Mutation SNP C C T TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr11:107904570C>T ENST00000393094.2 + 2 683 c.67C>T c.(67-69)Cgc>Tgc p.R23C NM_003478.3 NP_003469.2 Q93034 CUL5_HUMAN cullin 5 23 cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction cullin-RING ubiquitin ligase complex|cytosol calcium channel activity|receptor activity|ubiquitin protein ligase binding endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1) 23 all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217) GGATTTTATGCGCCCGATTGT 0.328000 3 31 0 0 1 0 0 SSTR3 0 broad.mit.edu 37 22 37602752 37602752 + Missense_Mutation SNP C C T TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr22:37602752C>T ENST00000328544.3 - 2 1624 c.1091G>A c.(1090-1092)gGg>gAg p.G364E SSTR3_ENST00000402501.1_Missense_Mutation_p.G364E NM_001051.3 NP_001042.1 P32745 SSR3_HUMAN somatostatin receptor 3 364 G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation integral to plasma membrane|nonmotile primary cilium somatostatin receptor activity NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1) 14 CCCCTTGCCCCCCTCCCTGCT 0.701000 3 22 0 0 1 0 0 HHIPL2 79802 broad.mit.edu 37 1 222721257 222721257 + Missense_Mutation SNP G G T TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr1:222721257G>T ENST00000343410.6 - 1 188 c.130C>A c.(130-132)Cag>Aag p.Q44K NM_024746.3 NP_079022.2 Q6UWX4 HIPL2_HUMAN HHIP-like 2 44 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 GBM - Glioblastoma multiforme(131;0.0185) TCCAGGCACTGGGGGTGTCCC 0.607000 10 34 9.70103e-10 1.13767e-09 1 1 0 ABCA13 154664 broad.mit.edu 37 7 48311571 48311571 + Missense_Mutation SNP A A G TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr7:48311571A>G ENST00000435803.1 + 17 2332 c.2308A>G c.(2308-2310)Ata>Gta p.I770V NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 770 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 TATTCTGAATATAAGTTCTCT 0.383000 12 14 0 0 1 0 0 FAT1 2195 broad.mit.edu 37 4 187540450 187540450 + Silent SNP C C G TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr4:187540450C>G ENST00000441802.2 - 10 7499 c.7290G>C c.(7288-7290)ctG>ctC p.L2430L NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 2430 Cadherin 22. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 CATTGCCAGACAGAATGGAAT 0.463000 HNSCC(5;0.00058) 57 1 0 0 1 0 0 TLN2 83660 broad.mit.edu 37 15 63031545 63031545 + Splice_Site SNP A A T TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr15:63031545A>T ENST00000561311.1 + 30 3917 c.e30-1 TLN2_ENST00000306829.6_Splice_Site|TLN2_ENST00000559908.1_Splice_Site Q9Y4G6 TLN2_HUMAN talin 2 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 TGTTCCCCACAGCTACCTCCA 0.542000 15 14 0 0 1 0 0 CREBBP 1387 broad.mit.edu 37 16 3789628 3789628 + Missense_Mutation SNP C C G TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr16:3789628C>G ENST00000262367.5 - 25 5040 c.4231G>C c.(4231-4233)Gga>Cga p.G1411R CREBBP_ENST00000382070.3_Missense_Mutation_p.G1373R NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 1411 Cys/His-rich. cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding p.G1411R(1) NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) ACGTGCATTCCAAAAAAGCAG 0.488000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 21 28 0 0 1 0 0 KRT82 3888 broad.mit.edu 37 12 52799998 52799998 + Missense_Mutation SNP C C G TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr12:52799998C>G ENST00000257974.2 - 1 141 c.64G>C c.(64-66)Gct>Cct p.A22P NM_033033.3 NP_149022.3 Q9NSB4 KRT82_HUMAN keratin 82 22 Head. keratin filament protein binding|structural constituent of epidermis endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 29 BRCA - Breast invasive adenocarcinoma(357;0.193) GGCATGACAGCCGAGTATGAG 0.637000 8 9 0 0 1 0 0 PIK3R6 146850 broad.mit.edu 37 17 8738640 8738640 + Missense_Mutation SNP C C A TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr17:8738640C>A ENST00000311434.9 - 8 834 c.595G>T c.(595-597)Gcg>Tcg p.A199S PIK3R6_ENST00000434064.2_5'UTR NM_001010855.2 NP_001010855.1 Q5UE93 PI3R6_HUMAN phosphoinositide-3-kinase, regulatory subunit 6 199 platelet activation cytosol CCCAGAGCCGCCTGCAGGGCG 0.672000 9 10 0.000673444 0.000717969 1 1 0 VPS52 6293 broad.mit.edu 37 6 33236285 33236285 + Silent SNP G G A TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr6:33236285G>A ENST00000445902.2 - 7 908 c.690C>T c.(688-690)ctC>ctT p.L230L VPS52_ENST00000436044.2_Silent_p.L105L|VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000478934.1_5'UTR NM_022553.4 NP_072047.4 Q8N1B4 VPS52_HUMAN vacuolar protein sorting 52 homolog (S. cerevisiae) 230 protein transport endosome membrane|Golgi apparatus endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1) 28 CCTTGACCCGGAGCCGATCGA 0.582000 26 19 0 0 1 0 0 KIAA1841 84542 broad.mit.edu 37 2 61304147 61304147 + Missense_Mutation SNP A A G TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr2:61304147A>G ENST00000402291.1 + 6 765 c.524A>G c.(523-525)tAc>tGc p.Y175C KIAA1841_ENST00000356719.2_Missense_Mutation_p.Y175C|KIAA1841_ENST00000453873.1_Missense_Mutation_p.Y175C|KIAA1841_ENST00000482513.1_3'UTR|KIAA1841_ENST00000295031.5_Missense_Mutation_p.Y175C NM_001129993.1 NP_001123465.1 Q6NSI8 K1841_HUMAN KIAA1841 175 breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 25 Epithelial(17;0.193) GAAATGAAGTACTTTGCTGAA 0.383000 46 39 0 0 1 0 0 AFF4 27125 broad.mit.edu 37 5 132232045 132232045 + Missense_Mutation SNP T T A TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr5:132232045T>A ENST00000265343.5 - 11 2656 c.2277A>T c.(2275-2277)aaA>aaT p.K759N AFF4_ENST00000378595.3_Missense_Mutation_p.K759N NM_014423.3 NP_055238.1 Q9UHB7 AFF4_HUMAN AF4/FMR2 family, member 4 759 transcription from RNA polymerase II promoter mitochondrion|nucleolus protein binding|sequence-specific DNA binding transcription factor activity SEPT8/AFF4(2) breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2) 43 all_cancers(142;0.145)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TGTTGGAAACTTTTTCTGAGG 0.428000 50 52 0 0 1 0 0 EMP1 2012 broad.mit.edu 37 12 13364518 13364518 + Missense_Mutation SNP C C G TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr12:13364518C>G ENST00000256951.5 + 2 273 c.74C>G c.(73-75)gCc>gGc p.A25G EMP1_ENST00000396301.3_Missense_Mutation_p.A25G|EMP1_ENST00000537612.1_Missense_Mutation_p.A25G|EMP1_ENST00000544053.1_Intron|EMP1_ENST00000431267.2_Intron|EMP1_ENST00000542289.1_Intron NM_001423.2 NP_001414.1 P54849 EMP1_HUMAN epithelial membrane protein 1 25 cell growth|cell proliferation|epidermis development integral to membrane|membrane fraction Prostate(47;0.194) BRCA - Breast invasive adenocarcinoma(232;0.153) AGCACCATTGCCAATGTGAGT 0.373000 37 63 0 0 1 0 0 C5AR2 27202 broad.mit.edu 37 19 47844817 47844817 + Missense_Mutation SNP T T A TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr19:47844817T>A ENST00000595464.1 + 2 979 c.761T>A c.(760-762)cTg>cAg p.L254Q C5AR2_ENST00000257267.2_Missense_Mutation_p.L254Q|C5AR2_ENST00000600626.1_Missense_Mutation_p.L254Q NM_001271749.1 NP_001258678.1 complement component 5a receptor 2 CTGCTGGGGCTGGTGCTCACT 0.682000 35 37 0 0 1 0 0 SERPINI2 5276 broad.mit.edu 37 3 167189401 167189401 + Silent SNP A A T TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr3:167189401A>T ENST00000476257.1 - 3 520 c.222T>A c.(220-222)acT>acA p.T74T SERPINI2_ENST00000264677.4_Silent_p.T74T|SERPINI2_ENST00000471111.1_Silent_p.T74T|SERPINI2_ENST00000465031.1_5'UTR|SERPINI2_ENST00000461846.1_Silent_p.T74T O75830 SPI2_HUMAN serpin peptidase inhibitor, clade I (pancpin), member 2 74 cellular component movement|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1) 41 GTTGTTTTAAAGTTTGTCTTA 0.373000 28 52 0 0 1 0 0 CTNNAL1 8727 broad.mit.edu 37 9 111732709 111732709 + Silent SNP C C T TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr9:111732709C>T ENST00000374595.4 - 10 1492 c.1413G>A c.(1411-1413)gaG>gaA p.E471E CTNNAL1_ENST00000325551.4_Silent_p.E471E|CTNNAL1_ENST00000325580.6_Intron Q9UBT7 CTNL1_HUMAN catenin (cadherin-associated protein), alpha-like 1 471 cell adhesion|Rho protein signal transduction actin cytoskeleton|cytosol|plasma membrane cadherin binding|structural molecule activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2) 25 STAD - Stomach adenocarcinoma(157;0.0768) GAAATGTCTCCTCTGCATGTA 0.408000 6 36 0 0 1 0 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296167 39296167 + Silent SNP A A G TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr17:39296167A>G ENST00000345847.4 - 1 572 c.573T>C c.(571-573)atT>atC p.I191I NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 187 keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 GGCAGGTGGAAATGACACAGG 0.627000 3 6 0 0 1 0 0 CTSG 1511 broad.mit.edu 37 14 25043508 25043508 + Silent SNP G G A TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr14:25043508G>A ENST00000216336.2 - 4 573 c.537C>T c.(535-537)taC>taT p.Y179Y NM_001911.2 NP_001902.1 P08311 CATG_HUMAN cathepsin G 179 Peptidase S1. immune response|proteolysis cell surface|extracellular space|plasma membrane|stored secretory granule heparin binding|serine-type endopeptidase activity p.Y179Y(1) autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1) 25 GBM - Glioblastoma multiforme(265;0.0269) TTCGGGGGTCGTAGGAACCGA 0.627000 11 11 0 0 1 0 0 TNRC18 84629 broad.mit.edu 37 7 5391581 5391581 + Missense_Mutation SNP C C T TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr7:5391581C>T ENST00000399537.4 - 17 5687 c.5339G>A c.(5338-5340)aGg>aAg p.R1780K TNRC18_ENST00000430969.1_Missense_Mutation_p.R1780K O15417 TNC18_HUMAN trinucleotide repeat containing 18 1780 DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8) 11 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) CGCCAGGCCCCTCTTGGTCAG 0.652000 21 17 0 0 1 0 0 ADRBK2 157 broad.mit.edu 37 22 26083505 26083505 + Splice_Site SNP G G A TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr22:26083505G>A ENST00000324198.5 + 11 1020 c.826_splice c.e11-1 p.G276_splice NM_005160.3 NP_005151.2 P35626 ARBK2_HUMAN adrenergic, beta, receptor kinase 2 276 Protein kinase. ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2) 32 Adenosine triphosphate(DB00171) TGATTCCAGGGGGCGATTTGC 0.403000 8 114 0 0 1 0 0 MTA1 9112 broad.mit.edu 37 14 105920531 105920531 + Splice_Site SNP A A G TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr14:105920531A>G ENST00000331320.7 + 7 648 c.432_splice c.e7-1 p.D145_splice MTA1_ENST00000406191.1_Splice_Site_p.D145_splice|MTA1_ENST00000405646.1_Splice_Site_p.D128_splice NM_001203258.1|NM_004689.3 NP_001190187.1|NP_004680.2 Q13330 MTA1_HUMAN metastasis associated 1 145 BAH. signal transduction cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1) 14 all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026) Epithelial(152;0.19) GTTTTCCAGGATTTCTTCTTC 0.567000 9 16 0 0 1 0 0 BRCA1 672 broad.mit.edu 37 17 41251830 41251830 + Missense_Mutation SNP C C A rs80357264 TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr17:41251830C>A ENST00000357654.3 - 7 627 c.509G>T c.(508-510)cGg>cTg p.R170L BRCA1_ENST00000346315.3_Missense_Mutation_p.R170L|BRCA1_ENST00000309486.4_5'UTR|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.R123L|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000491747.2_Missense_Mutation_p.R170L|BRCA1_ENST00000354071.3_Missense_Mutation_p.R170L|BRCA1_ENST00000352993.3_Missense_Mutation_p.R170L|BRCA1_ENST00000351666.3_Missense_Mutation_p.R170L|BRCA1_ENST00000471181.2_Missense_Mutation_p.R170L|BRCA1_ENST00000468300.1_Missense_Mutation_p.R170L NM_007294.3 NP_009225.1 P38398 BRCA1_HUMAN breast cancer 1, early onset 170 androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding p.R170Q(1) NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2) 120 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.126) AGGTTGTATCCGCTGCTTTGT 0.383000 """D, Mis, N, F, S""" ovarian """breast, ovarian""" Homologous recombination Hereditary Breast-Ovarian Cancer, BRCA1 type TCGA Ovarian(2;0.000030) 81 106 1.48072e-28 1.89121e-28 1 1 0 ADAMTS12 81792 broad.mit.edu 37 5 33684007 33684007 + Missense_Mutation SNP C C T TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr5:33684007C>T ENST00000504830.1 - 4 1123 c.788G>A c.(787-789)gGg>gAg p.G263E ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.G263E NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 263 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 ATTCTCACTCCCATGGTATTC 0.512000 HNSCC(64;0.19) 45 70 0 0 1 0 0 SDK1 221935 broad.mit.edu 37 7 3678686 3678686 + Missense_Mutation SNP T T C TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr7:3678686T>C ENST00000404826.2 + 3 648 c.509T>C c.(508-510)gTg>gCg p.V170A SDK1_ENST00000389531.3_Missense_Mutation_p.V170A NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 170 Ig-like C2-type 1. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) TACCGCTGCGTGGTGCGAAAC 0.408000 3 9 0 0 1 0 0 CLCN1 1180 broad.mit.edu 37 7 143039052 143039052 + Missense_Mutation SNP A A G TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr7:143039052A>G ENST00000343257.2 + 15 1700 c.1613A>G c.(1612-1614)cAc>cGc p.H538R NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 538 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) GCCGTTTCCCACACAGTCTCC 0.527000 15 40 0 0 1 0 0 DHX35 60625 broad.mit.edu 37 20 37653954 37653954 + Silent SNP T T C TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr20:37653954T>C ENST00000252011.3 + 18 1786 c.1753T>C c.(1753-1755)Ttg>Ctg p.L585L DHX35_ENST00000373323.4_Silent_p.L554L|DHX35_ENST00000373325.2_Silent_p.L585L NM_021931.3 NP_068750.2 Q9H5Z1 DHX35_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 35 585 catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2) 40 Myeloproliferative disorder(115;0.00878) AAGAGAACAATTGAAAAAGCT 0.448000 78 68 0 0 1 0 0 SLFN11 91607 broad.mit.edu 37 17 33680977 33680977 + Missense_Mutation SNP A A C TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr17:33680977A>C ENST00000394566.1 - 6 1572 c.1300T>G c.(1300-1302)Ttc>Gtc p.F434V SLFN11_ENST00000308377.4_Missense_Mutation_p.F434V NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1 NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1 Q7Z7L1 SLN11_HUMAN schlafen family member 11 434 nucleus ATP binding autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2) 50 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CCCCGAAAGAAAGGTTGCATT 0.468000 42 49 0 0 1 0 0 CDH23 64072 broad.mit.edu 37 10 73550053 73550053 + Missense_Mutation SNP C C A TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr10:73550053C>A ENST00000224721.6 + 45 5952 c.5947C>A c.(5947-5949)Ctc>Atc p.L1983I NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 1978 Cadherin 19. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 AGGCACCCCTCTCACGGTGCT 0.652000 15 16 9.16793e-09 1.0466e-08 1 1 0 LRP6 4040 broad.mit.edu 37 12 12397495 12397495 + Silent SNP C C T TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr12:12397495C>T ENST00000261349.4 - 2 226 c.150G>A c.(148-150)ttG>ttA p.L50L LRP6_ENST00000543091.1_Silent_p.L50L NM_002336.2 NP_002327.2 O75581 LRP6_HUMAN low density lipoprotein receptor-related protein 6 50 Beta-propeller 1. cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 85 Prostate(47;0.0865) CTGCATCCTCCAAGCCTCCAA 0.448000 30 26 0 0 1 0 0 C5orf24 134553 broad.mit.edu 37 5 134190664 134190664 + Missense_Mutation SNP C C T TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr5:134190664C>T ENST00000394976.3 + 2 302 c.74C>T c.(73-75)gCc>gTc p.A25V C5orf24_ENST00000435259.2_Missense_Mutation_p.A25V|C5orf24_ENST00000338051.4_Missense_Mutation_p.A25V|C5orf24_ENST00000504727.1_Missense_Mutation_p.A25V NM_001135586.1 NP_001129058.1 Q7Z6I8 CE024_HUMAN chromosome 5 open reading frame 24 25 breast(2)|endometrium(2)|lung(2) 6 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) AATGAAGATGCCATGAGAGCT 0.448000 4 140 0 0 1 0 0 C20orf112 140688 broad.mit.edu 37 20 31040136 31040136 + Silent SNP G G A TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr20:31040136G>A ENST00000359676.5 - 7 1135 c.993C>T c.(991-993)taC>taT p.Y331Y RP5-1184F4.5_ENST00000442179.1_RNA NM_001256798.1|NM_080616.4 NP_001243727.1|NP_542183.2 Q96MY1 CT112_HUMAN chromosome 20 open reading frame 112 331 endometrium(3)|kidney(2)|large_intestine(5)|lung(5) 15 CGCCGTTGGCGTACACAGGGT 0.627000 34 35 0 0 1 0 0 ASAP2 8853 broad.mit.edu 37 2 9484929 9484929 + Splice_Site SNP C C T rs143591778 TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr2:9484929C>T ENST00000281419.3 + 11 1363 c.1023_splice c.e11+1 p.T341_splice ASAP2_ENST00000315273.4_Splice_Site_p.T341_splice NM_003887.2 NP_003878.1 O43150 ASAP2_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 341 PH. regulation of ARF GTPase activity Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|protein binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 36 CCCATGGTACCGTAAGTATTC 0.423000 23 28 0 0 1 0 0 DPF3 8110 broad.mit.edu 37 14 73220023 73220023 + Silent SNP G G T TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr14:73220023G>T ENST00000541685.1 - 3 262 c.250C>A c.(250-252)Cga>Aga p.R84R DPF3_ENST00000546183.1_Silent_p.R94R|DPF3_ENST00000556509.1_Silent_p.R84R NM_012074.3 NP_036206.3 Q92784 DPF3_HUMAN D4, zinc and double PHD fingers, family 3 84 chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nBAF complex nucleic acid binding|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1) 22 BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654) GGGTGCAATCGTCTCTTCTTG 0.557000 6 19 0.00116845 0.00123549 1 1 0 TRBV11-1 0 broad.mit.edu 37 7 142224222 142224222 + RNA SNP C C A TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr7:142224222C>A ENST00000390367.3 - 0 62 GACACACCTGCCCCCAGGAGA 0.498000 12 14 9.05144e-12 1.10154e-11 1 1 0 PIK3C2B 5287 broad.mit.edu 37 1 204415197 204415197 + Silent SNP C C G TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr1:204415197C>G ENST00000367187.3 - 17 3121 c.2565G>C c.(2563-2565)ctG>ctC p.L855L PIK3C2B_ENST00000424712.2_Intron NM_002646.3 NP_002637.3 O00750 P3C2B_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta 855 cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 52 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) TGGCGAGCACCAGGGGGAGCG 0.617000 OREG0014135 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 73 36 0 0 1 0 0 PCDHGA2 0 broad.mit.edu 37 5 140720733 140720733 + Nonsense_Mutation SNP T T A TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr5:140720733T>A ENST00000394576.2 + 1 2195 c.2195T>A c.(2194-2196)tTg>tAg p.L732* PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGAGGCAGCTTGACAGGCATG 0.642000 65 55 0 0 1 0 0 DLG5 9231 broad.mit.edu 37 10 79580866 79580866 + Missense_Mutation SNP C C A TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr10:79580866C>A ENST00000372391.2 - 15 3381 c.3376G>T c.(3376-3378)Gta>Tta p.V1126L DLG5_ENST00000372388.2_Intron|DLG5_ENST00000459739.1_5'UTR NM_004747.3 NP_004738.3 Q8TDM6 DLG5_HUMAN discs, large homolog 5 (Drosophila) 1126 cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) GGAATCACTACTGGAGCAAGC 0.602000 18 26 1.67942e-08 1.90039e-08 1 1 0 ADAM10 102 broad.mit.edu 37 15 58957369 58957369 + Missense_Mutation SNP C C T TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr15:58957369C>T ENST00000260408.3 - 5 955 c.512G>A c.(511-513)gGg>gAg p.G171E ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000558733.1_5'UTR|ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000396140.2_Intron NM_001110.2 NP_001101.1 O14672 ADA10_HUMAN ADAM metallopeptidase domain 10 171 cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3) 27 GBM - Glioblastoma multiforme(80;0.202) TGCACAGCCCCCCTGAGGACC 0.363000 61 69 0 0 1 0 0 ZNF878 729747 broad.mit.edu 37 19 12155673 12155673 + Missense_Mutation SNP A A C TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr19:12155673A>C ENST00000602107.1 - 5 683 c.684T>G c.(682-684)agT>agG p.S228R CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|ZNF878_ENST00000547628.1_Missense_Mutation_p.S181R C9JN71 ZN878_HUMAN zinc finger protein 878 181 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1) 8 AACTGGGAAAACTGAATGCTT 0.403000 5 172 0 0 1 0 0 PPOX 5498 broad.mit.edu 37 1 161138906 161138906 + Missense_Mutation SNP G G T TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr1:161138906G>T ENST00000367999.4 + 7 1006 c.740G>T c.(739-741)aGg>aTg p.R247M PPOX_ENST00000544598.1_Intron|PPOX_ENST00000432542.2_Intron|PPOX_ENST00000352210.5_Missense_Mutation_p.R247M|PPOX_ENST00000495483.1_3'UTR|PPOX_ENST00000535223.1_Intron NM_001122764.1 NP_001116236.1 P50336 PPOX_HUMAN protoporphyrinogen oxidase 247 heme biosynthetic process intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3) 15 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) CTGACTAGTAGGGGGGTCAGT 0.607000 28 32 1.06801e-11 1.2876e-11 1 1 0 SKOR1 390598 broad.mit.edu 37 15 68123211 68123211 + Silent SNP C C A TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr15:68123211C>A ENST00000380035.2 + 5 2629 c.2571C>A c.(2569-2571)atC>atA p.I857I SKOR1_ENST00000389002.1_Silent_p.I813I|SKOR1_ENST00000554054.1_Silent_p.I829I|SKOR1_ENST00000554240.1_Silent_p.I818I|SKOR1_ENST00000341418.5_Silent_p.I760I P84550 SKOR1_HUMAN SKI family transcriptional corepressor 1 857 negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent cytoplasm|dendrite|neuronal cell body|nucleus nucleotide binding|SMAD binding|transcription repressor activity endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1) 23 AGAAAGATATCGAGAACCTGG 0.507000 69 59 2.84776e-26 3.56661e-26 1 1 0 PCDHB3 0 broad.mit.edu 37 5 140482548 140482548 + Missense_Mutation SNP C C A TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr5:140482548C>A ENST00000231130.2 + 1 2315 c.2315C>A c.(2314-2316)cCc>cAc p.P772H NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 772 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCAATTATCCCCAACTTCGTT 0.517000 13 55 7.33628e-21 9.09981e-21 1 1 0 EMC7 56851 broad.mit.edu 37 15 34380269 34380269 + Missense_Mutation SNP A A T TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr15:34380269A>T ENST00000256545.4 - 4 669 c.561T>A c.(559-561)gaT>gaA p.D187E NM_020154.2 NP_064539.1 ER membrane protein complex subunit 7 TCATGTCAGGATCACTTGTGT 0.388000 9 14 0 0 1 0 0 RFTN1 23180 broad.mit.edu 37 3 16450976 16450976 + Missense_Mutation SNP T T A TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr3:16450976T>A ENST00000334133.4 - 4 619 c.347A>T c.(346-348)gAt>gTt p.D116V RFTN1_ENST00000432519.1_Missense_Mutation_p.D80V NM_015150.1 NP_055965.1 Q14699 RFTN1_HUMAN raftlin, lipid raft linker 1 116 plasma membrane central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 38 ATTGTGAAGATCAGTTTTCTG 0.428000 30 24 0 0 1 0 0 HDLBP 3069 broad.mit.edu 37 2 242186209 242186209 + Silent SNP G G A TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr2:242186209G>A ENST00000391975.1 - 16 2135 c.1908C>T c.(1906-1908)tgC>tgT p.C636C HDLBP_ENST00000391976.2_Silent_p.C636C|HDLBP_ENST00000310931.4_Silent_p.C636C|HDLBP_ENST00000427183.2_Silent_p.C603C NM_203346.3 NP_976221.1 Q00341 VIGLN_HUMAN high density lipoprotein binding protein 636 KH 7. cholesterol metabolic process|lipid transport cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane lipid binding|protein binding|RNA binding breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928) GGGCAGCTTCGCAGTTGGCTC 0.458000 59 53 0 0 1 0 0 PGAP1 80055 broad.mit.edu 37 2 197784834 197784834 + Missense_Mutation SNP G G A TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr2:197784834G>A ENST00000354764.3 - 2 302 c.188C>T c.(187-189)gCa>gTa p.A63V PGAP1_ENST00000409475.1_Missense_Mutation_p.A63V|PGAP1_ENST00000409188.1_Missense_Mutation_p.A21V|PGAP1_ENST00000485830.1_5'UTR NM_024989.3 NP_079265.2 Q75T13 PGAP1_HUMAN post-GPI attachment to proteins 1 63 attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport integral to membrane|intrinsic to endoplasmic reticulum membrane nuclease activity|phosphoric ester hydrolase activity breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1) 40 CAACTCATATGCGGGATAGCG 0.363000 53 65 0 0 1 0 0 YME1L1 10730 broad.mit.edu 37 10 27401048 27401048 + Splice_Site SNP T T C TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr10:27401048T>C ENST00000326799.3 - 20 2328 c.2178_splice c.e20-1 p.D727_splice YME1L1_ENST00000375972.3_Splice_Site_p.D637_splice|YME1L1_ENST00000376016.3_Splice_Site_p.D670_splice NM_139312.2 NP_647473.1 Q96TA2 YMEL1_HUMAN YME1-like 1 ATPase 727 protein catabolic process|proteolysis membrane|mitochondrion ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 TTCATATGAGTCCTGAAACAG 0.388000 25 29 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100684421 100684421 + Missense_Mutation SNP C C A TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr7:100684421C>A ENST00000306151.4 + 3 9788 c.9724C>A c.(9724-9726)Ctt>Att p.L3242I NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3242 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GGCTAGCATCCTTTCAACAAC 0.502000 5 377 0.014758 0.014758 1 1 0 RRN3P2 0 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 13 71 0 0 1 0 0 IGHG4 0 broad.mit.edu 37 14 106090959 106090959 + RNA SNP A A C TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr14:106090959A>C ENST00000390543.2 - 0 837 GAGCCGTCGGAGTCCAGCACG 0.602000 91 184 0 0 1 0 0 HTR3A 3359 broad.mit.edu 37 11 113857278 113857278 + Missense_Mutation SNP C C A TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr11:113857278C>A ENST00000504030.2 + 7 1189 c.744C>A c.(742-744)agC>agA p.S248R HTR3A_ENST00000299961.5_Missense_Mutation_p.S233R|HTR3A_ENST00000535865.1_De_novo_Start_InFrame|HTR3A_ENST00000355556.2_Missense_Mutation_p.S254R|HTR3A_ENST00000375498.2_Missense_Mutation_p.S254R|HTR3A_ENST00000506841.2_Missense_Mutation_p.S248R P46098 5HT3A_HUMAN 5-hydroxytryptamine (serotonin) receptor 3A, ionotropic 248 digestion|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 36 all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191) Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199) ATGTGGTCAGCCTGCTACTGC 0.602000 4 26 0.00909568 0.00931224 1 1 0 SPP1 6696 broad.mit.edu 37 4 88901213 88901213 + Missense_Mutation SNP C C T TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr4:88901213C>T ENST00000237623.7 + 4 257 c.109C>T c.(109-111)Cca>Tca p.P37S SPP1_ENST00000360804.4_Intron|SPP1_ENST00000509659.1_3'UTR|SPP1_ENST00000395080.3_Missense_Mutation_p.P37S NM_000582.2 NP_000573.1 P10451 OSTP_HUMAN secreted phosphoprotein 1 37 biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D extracellular space cytokine activity NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1) 13 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;9.87e-05) CAACAAATACCCAGATGCTGT 0.363000 33 1 0 0 1 0 0 MYH9 4627 broad.mit.edu 37 22 36697606 36697606 + Missense_Mutation SNP T T G TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr22:36697606T>G ENST00000216181.5 - 21 2835 c.2605A>C c.(2605-2607)Acg>Ccg p.T869P NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 869 T -> M (in Ref. 7; AAA36349). actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 TCCATCTCCGTGAGCCTGTTC 0.642000 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated OREG0026520 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 19 0 0 1 0 0 NLRP8 126205 broad.mit.edu 37 19 56499192 56499192 + Silent SNP C C G TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr19:56499192C>G ENST00000291971.3 + 10 3131 c.3060C>G c.(3058-3060)gcC>gcG p.A1020A NLRP8_ENST00000590542.1_Silent_p.A1001A NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 1020 cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) GTATTCCTGCCTGGACTCGAA 0.488000 14 8 0 0 1 0 0 DHX9 1660 broad.mit.edu 37 1 182829136 182829136 + Silent SNP G G A TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr1:182829136G>A ENST00000367549.3 + 12 1259 c.1149G>A c.(1147-1149)caG>caA p.Q383Q NM_001357.4 NP_001348.2 Q08211 DHX9_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 9 383 CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 49 AGATCTTGCAGGAGAGAGAGT 0.393000 24 81 0 0 1 0 0 RGAG1 57529 broad.mit.edu 37 X 109696404 109696404 + Silent SNP A A T TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chrX:109696404A>T ENST00000465301.2 + 3 2805 c.2559A>T c.(2557-2559)acA>acT p.T853T RGAG1_ENST00000540313.1_Silent_p.T853T NM_020769.2 NP_065820.1 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 853 NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 CAAGATCCACAGCCTCTGGAG 0.522000 81 104 0 0 1 0 0 GANAB 23193 broad.mit.edu 37 11 62396692 62396692 + Missense_Mutation SNP C C A TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr11:62396692C>A ENST00000346178.4 - 17 1991 c.1976G>T c.(1975-1977)gGg>gTg p.G659V GANAB_ENST00000540933.1_Missense_Mutation_p.G540V|GANAB_ENST00000356638.3_Missense_Mutation_p.G637V|GANAB_ENST00000534779.1_Missense_Mutation_p.G545V NM_001278192.1|NM_198335.2 NP_001265121.1|NP_938149.2 Q14697 GANAB_HUMAN glucosidase, alpha; neutral AB 637 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|Golgi apparatus|melanosome carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3) 35 TCCCACCAGCCCCAAGCTGAG 0.547000 37 34 5.73237e-09 6.60246e-09 1 1 0 PIWIL3 440822 broad.mit.edu 37 22 25115444 25115444 + Missense_Mutation SNP G G C TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr22:25115444G>C ENST00000332271.5 - 21 3060 c.2644C>G c.(2644-2646)Ctt>Gtt p.L882V PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Missense_Mutation_p.L764V|PIWIL3_ENST00000533313.1_Missense_Mutation_p.L764V NM_001008496.3|NM_001255975.1 NP_001008496.2|NP_001242904.1 Q7Z3Z3 PIWL3_HUMAN piwi-like RNA-mediated gene silencing 3 882 cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis cytoplasm RNA binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 GCAGGTCAAAGGTAAAAGAGA 0.483000 46 46 0 0 1 0 0 RAB4B-EGLN2 0 broad.mit.edu 37 19 41289912 41289912 + Missense_Mutation SNP A A G TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr19:41289912A>G ENST00000594136.1 + 5 467 c.362A>G c.(361-363)aAc>aGc p.N121S RAB4B-EGLN2_ENST00000601949.1_Intron|RAB4B_ENST00000594800.1_Missense_Mutation_p.N121S|MIA-RAB4B_ENST00000600729.1_3'UTR|RAB4B_ENST00000602069.1_3'UTR|RAB4B_ENST00000357052.2_Missense_Mutation_p.N121S CTCTGTGGCAACAAGAAGGAC 0.627000 12 14 0 0 1 0 0 LIFR 3977 broad.mit.edu 37 5 38482078 38482078 + Missense_Mutation SNP C C A TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr5:38482078C>A ENST00000263409.4 - 20 3075 c.2913G>T c.(2911-2913)caG>caT p.Q971H LIFR_ENST00000453190.2_Missense_Mutation_p.Q971H NM_002310.5 NP_002301.1 P42702 LIFR_HUMAN leukemia inhibitory factor receptor alpha 971 positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2) 78 all_lung(31;0.00021) TGTAAATAACCTGTGCAGTCC 0.468000 T PLAG1 salivary adenoma 5 140 0.014758 0.014758 1 1 0 RNF217 154214 broad.mit.edu 37 6 125283939 125283939 + Silent SNP A A G TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr6:125283939A>G ENST00000521654.2 + 1 249 c.249A>G c.(247-249)gcA>gcG p.A83A RP11-510H23.1_ENST00000439075.1_RNA|RNF217_ENST00000560949.1_5'UTR Q8TC41 RN217_HUMAN ring finger protein 217 0 protein ubiquitination involved in ubiquitin-dependent protein catabolic process integral to membrane ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1) 11 LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828) GBM - Glioblastoma multiforme(226;0.0162) AGAGCCGAGCACCGGCGCAGC 0.711000 13 17 0 0 1 0 0 EVI5L 115704 broad.mit.edu 37 19 7912636 7912636 + Silent SNP C C G TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr19:7912636C>G ENST00000270530.4 + 3 352 c.156C>G c.(154-156)tcC>tcG p.S52S EVI5L_ENST00000538904.2_Silent_p.S52S NM_145245.3 NP_660288.1 Q96CN4 EVI5L_HUMAN ecotropic viral integration site 5-like 52 intracellular protein binding|Rab GTPase activator activity breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 12 AGGCCGACTCCAAGTCCATGC 0.662000 16 20 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14513764 14513764 + Missense_Mutation SNP C C T TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr18:14513764C>T ENST00000358970.5 - 10 1429 c.1430G>A c.(1429-1431)cGg>cAg p.R477Q NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 477 p.R477Q(12) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 AAGTTGTTTCCGGGTATCATT 0.358000 5 102 0 0 1 0 0 FBN1 2200 broad.mit.edu 37 15 48760142 48760142 + Silent SNP C C G TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr15:48760142C>G ENST00000316623.5 - 38 5195 c.4740G>C c.(4738-4740)gtG>gtC p.V1580V NM_000138.4 NP_000129.3 P35555 FBN1_HUMAN fibrillin 1 1580 TB 6. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) TACATGTGTTCACAGCAGGAC 0.438000 19 34 0 0 1 0 0 OR51F2 119694 broad.mit.edu 37 11 4842972 4842972 + Silent SNP C C T TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr11:4842972C>T ENST00000322110.5 + 1 422 c.357C>T c.(355-357)caC>caT p.H119H MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001004753.1 NP_001004753.1 Q8NH61 O51F2_HUMAN olfactory receptor, family 51, subfamily F, member 2 119 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) TCTTTCTACACGGATTTACTT 0.468000 52 56 0 0 1 0 0 ZNF354B 117608 broad.mit.edu 37 5 178310451 178310451 + Missense_Mutation SNP A A T TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr5:178310451A>T ENST00000322434.3 + 5 1224 c.998A>T c.(997-999)aAg>aTg p.K333M NM_058230.2 NP_478137.1 Q96LW1 Z354B_HUMAN zinc finger protein 354B 333 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1) 21 all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCAGGCAGGAAGGCATCCAGT 0.393000 37 20 0 0 1 0 0 ATP13A1 57130 broad.mit.edu 37 19 19765480 19765480 + Missense_Mutation SNP C C T TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr19:19765480C>T ENST00000357324.6 - 13 1711 c.1685G>A c.(1684-1686)aGc>aAc p.S562N ATP13A1_ENST00000291503.5_Missense_Mutation_p.S444N|ATP13A1_ENST00000496082.1_5'UTR NM_020410.2 NP_065143.2 Q9HD20 AT131_HUMAN ATPase type 13A1 562 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 TACAGGGATGCTGGACACTGG 0.632000 17 20 0 0 1 0 0 MYADM 91663 broad.mit.edu 37 19 54377623 54377623 + Missense_Mutation SNP C C G TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr19:54377623C>G ENST00000391769.2 + 3 1120 c.840C>G c.(838-840)agC>agG p.S280R MYADM_ENST00000391768.2_Missense_Mutation_p.S280R|MYADM_ENST00000391770.4_Missense_Mutation_p.S280R|MYADM_ENST00000391771.1_Missense_Mutation_p.S280R|MYADM_ENST00000336967.3_Missense_Mutation_p.S280R NM_001020821.1 NP_001018657.1 Q96S97 MYADM_HUMAN myeloid-associated differentiation marker 280 MARVEL 2. integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 12 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.0488) TAAGCTGCAGCCGCAGCCATG 0.617000 17 18 0 0 1 0 0 UBC 7316 broad.mit.edu 37 12 125397652 125397652 + Silent SNP T T C rs146795524 TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr12:125397652T>C ENST00000536769.1 - 1 2242 c.666A>G c.(664-666)gtA>gtG p.V222V UBC_ENST00000339647.5_Silent_p.V222V|UBC_ENST00000546120.1_Silent_p.V146V|UBC_ENST00000538617.1_Intron P0CG48 UBC_HUMAN ubiquitin C 222 Ubiquitin-like 3. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) TGAGACGGAGTACCAGGTGCA 0.512000 5 82 0 0 1 0 0 FAM20A 54757 broad.mit.edu 37 17 66538845 66538845 + Silent SNP A A G TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr17:66538845A>G ENST00000592554.1 - 6 1640 c.918T>C c.(916-918)ttT>ttC p.F306F FAM20A_ENST00000226094.5_5'UTR|PRKAR1A_ENST00000588188.2_Intron NM_001243746.1|NM_017565.3 NP_001230675.1|NP_060035.2 Q96MK3 FA20A_HUMAN family with sequence similarity 20, member A 306 extracellular region cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1) 9 Breast(10;1.64e-13) CTGGAGAGACAAAGAAAACAC 0.522000 28 46 0 0 1 0 0 ADD1 118 broad.mit.edu 37 4 2877779 2877779 + Missense_Mutation SNP G G A TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr4:2877779G>A ENST00000355842.3 + 3 1000 c.137G>A c.(136-138)cGc>cAc p.R46H ADD1_ENST00000446856.1_Missense_Mutation_p.R46H|ADD1_ENST00000398123.2_Missense_Mutation_p.R46H|ADD1_ENST00000503455.2_Missense_Mutation_p.R46H|ADD1_ENST00000264758.7_Missense_Mutation_p.R46H|ADD1_ENST00000398125.1_Missense_Mutation_p.R46H|ADD1_ENST00000513328.2_Missense_Mutation_p.R46H|ADD1_ENST00000398129.1_Missense_Mutation_p.R46H P35611 ADDA_HUMAN adducin 1 (alpha) 46 actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding cytosol|F-actin capping protein complex|nucleus|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2) 22 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CCAGACCTTCGCCAGGACTTC 0.517000 28 30 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141719066 141719066 + Missense_Mutation SNP A A G TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr7:141719066A>G ENST00000475668.2 + 4 449 c.395A>G c.(394-396)tAt>tGt p.Y132C MGAM_ENST00000549489.2_Missense_Mutation_p.Y132C O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 132 P-type 1. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) TGGTGCTACTATTCCAAGAAT 0.507000 29 37 0 0 1 0 0 CLEC16A 23274 broad.mit.edu 37 16 11133611 11133611 + Splice_Site SNP G G T TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr16:11133611G>T ENST00000409790.1 + 14 1768 c.1537_splice c.e14-1 p.G513_splice CLEC16A_ENST00000465491.1_3'UTR|CLEC16A_ENST00000409552.3_Splice_Site_p.G495_splice NM_015226.2 NP_056041.1 Q2KHT3 CL16A_HUMAN C-type lectin domain family 16, member A 513 p.0?(1) breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 TCTGTTCCAGGCATGGATCCT 0.532000 3 7 0.004672 0.0048215 1 1 0 BCAN 63827 broad.mit.edu 37 1 156617454 156617454 + Missense_Mutation SNP G G T TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr1:156617454G>T ENST00000329117.4 + 4 957 c.621G>T c.(619-621)tgG>tgT p.W207C BCAN_ENST00000361588.5_Missense_Mutation_p.W207C|RP11-284F21.7_ENST00000448869.1_RNA NM_021948.4 NP_068767.3 Q96GW7 PGCB_HUMAN brevican 207 Link 1. cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 55 all_hematologic(923;0.088)|Hepatocellular(266;0.158) ATGCTGGCTGGCTGTCGGATC 0.662000 5 70 8.12818e-05 8.96184e-05 1 1 0 NLRP8 126205 broad.mit.edu 37 19 56499191 56499191 + Missense_Mutation SNP C C A TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr19:56499191C>A ENST00000291971.3 + 10 3130 c.3059C>A c.(3058-3060)gCc>gAc p.A1020D NLRP8_ENST00000590542.1_Missense_Mutation_p.A1001D NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 1020 cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) TGTATTCCTGCCTGGACTCGA 0.488000 14 7 5.01169e-05 5.57335e-05 1 1 0 TIGD2 166815 broad.mit.edu 37 4 90034507 90034507 + Missense_Mutation SNP C C G TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr4:90034507C>G ENST00000317005.2 + 1 540 c.382C>G c.(382-384)Cga>Gga p.R128G NM_145715.2 NP_663761.1 Q4W5G0 TIGD2_HUMAN tigger transposable element derived 2 128 HTH CENPB-type. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 14 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;3.86e-05) CTGGCTAACTCGATTTAAGCA 0.428000 34 2 0 0 1 0 0 LRBA 987 broad.mit.edu 37 4 151773724 151773724 + Missense_Mutation SNP A A C TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr4:151773724A>C ENST00000535741.1 - 23 3611 c.3138T>G c.(3136-3138)gaT>gaG p.D1046E LRBA_ENST00000357115.3_Missense_Mutation_p.D1046E|LRBA_ENST00000510413.1_Missense_Mutation_p.D1046E|LRBA_ENST00000507224.1_Missense_Mutation_p.D1046E P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and anchor containing 1046 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) CTTCTAAATCATCTGCATTCC 0.358000 72 1 0 0 1 0 0 TM4SF20 79853 broad.mit.edu 37 2 228230942 228230942 + Missense_Mutation SNP A A G TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr2:228230942A>G ENST00000304568.3 - 3 305 c.268T>C c.(268-270)Ttc>Ctc p.F90L NM_024795.3 NP_079071.2 Q53R12 T4S20_HUMAN transmembrane 4 L six family member 20 90 integral to membrane|plasma membrane breast(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(2) 10 Renal(207;0.025)|all_lung(227;0.123)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248) Epithelial(121;3.8e-11)|all cancers(144;2.57e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115) ATCACACTGAAAAGTGATGAA 0.383000 4 57 0 0 1 0 0 M6PR 4074 broad.mit.edu 37 12 9096440 9096440 + Missense_Mutation SNP C C T TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr12:9096440C>T ENST00000000412.3 - 4 878 c.410G>A c.(409-411)cGt>cAt p.R137H NM_002355.3 NP_002346.1 P20645 MPRD_HUMAN mannose-6-phosphate receptor (cation dependent) 137 endosome to lysosome transport|receptor-mediated endocytosis cell surface|endosome|integral to plasma membrane|lysosomal membrane mannose binding|mannose transmembrane transporter activity|transmembrane receptor activity cervix(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(1) 11 Hepatocellular(102;0.137) BRCA - Breast invasive adenocarcinoma(232;0.0146) CACTGCACGACGCTGCTCCTT 0.522000 30 30 0 0 1 0 0 SSMEM1 136263 broad.mit.edu 37 7 129855965 129855965 + Silent SNP G G A TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr7:129855965G>A ENST00000297819.3 + 3 441 c.390G>A c.(388-390)agG>agA p.R130R NM_145268.3 NP_660311.1 serine-rich single-pass membrane protein 1 GACGAGCCAGGCGCCAGTCTC 0.483000 19 20 0 0 1 0 0 RHBG 57127 broad.mit.edu 37 1 156347994 156347994 + Silent SNP G G A TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr1:156347994G>A ENST00000400992.2 + 4 749 c.381G>A c.(379-381)caG>caA p.Q127Q RHBG_ENST00000255013.3_Intron|RHBG_ENST00000368246.2_Intron|RHBG_ENST00000368249.1_Intron|RHBG_ENST00000451864.2_Silent_p.Q127Q|RHBG_ENST00000537040.1_Intron Q9H310 RHBG_HUMAN Rh family, B glycoprotein (gene/pseudogene) 177 transepithelial ammonium transport anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1) 22 Hepatocellular(266;0.158) CTCTGAGCCAGGAGCGTGGGG 0.632000 17 24 0 0 1 0 0 ANKRD24 170961 broad.mit.edu 37 19 4217148 4217148 + Missense_Mutation SNP C C A TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr19:4217148C>A ENST00000600132.1 + 18 2267 c.1991C>A c.(1990-1992)cCc>cAc p.P664H ANKRD24_ENST00000318934.4_Missense_Mutation_p.P664H|ANKRD24_ENST00000262970.5_Missense_Mutation_p.P754H NM_133475.1 NP_597732.1 Q8TF21 ANR24_HUMAN ankyrin repeat domain 24 664 endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1) 21 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181) CAAGCAGAGCCCCCAGTCACA 0.607000 8 10 0.000157383 0.000170609 1 1 0 MUC16 94025 broad.mit.edu 37 19 9085338 9085338 + Silent SNP A A G TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr19:9085338A>G ENST00000397910.4 - 1 6680 c.6477T>C c.(6475-6477)ctT>ctC p.L2159L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 2159 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TCTCAGATGTAAGGCCAGAAA 0.488000 28 29 0 0 1 0 0 HECW2 57520 broad.mit.edu 37 2 197080595 197080595 + Missense_Mutation SNP A A G TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr2:197080595A>G ENST00000260983.2 - 28 4783 c.4601T>C c.(4600-4602)cTt>cCt p.L1534P HECW2_ENST00000409111.1_Missense_Mutation_p.L1178P NM_020760.1 NP_065811.1 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 1534 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 TTACCTGGGAAGAGCAGTGAT 0.368000 21 35 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 89989876 89989876 + Missense_Mutation SNP C C T TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr5:89989876C>T ENST00000405460.2 + 33 7399 c.7303C>T c.(7303-7305)Ccc>Tcc p.P2435S NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 2435 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) CGTGGGGGAGCCCCTGTATAC 0.493000 16 15 0 0 1 0 0 SMARCE1 6605 broad.mit.edu 37 17 38785176 38785176 + Missense_Mutation SNP T T C TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr17:38785176T>C ENST00000348513.6 - 11 1877 c.1097A>G c.(1096-1098)gAc>gGc p.D366G SMARCE1_ENST00000400122.3_3'UTR|SMARCE1_ENST00000544009.1_Missense_Mutation_p.D296G|SMARCE1_ENST00000580419.1_Missense_Mutation_p.D331G|SMARCE1_ENST00000377808.4_3'UTR|SMARCE1_ENST00000431889.2_Missense_Mutation_p.D348G|SMARCE1_ENST00000578044.1_Missense_Mutation_p.D296G|KRT222_ENST00000476049.1_3'UTR NM_003079.4 NP_003070.3 Q969G3 SMCE1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 366 Glu-rich. chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity large_intestine(1) 1 Breast(137;0.000812) ACTCTCCTTGTCCTCAGGAGT 0.517000 49 36 0 0 1 0 0 DENND1C 79958 broad.mit.edu 37 19 6475898 6475898 + Missense_Mutation SNP C C A TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr19:6475898C>A ENST00000381480.2 - 11 841 c.729G>T c.(727-729)tgG>tgT p.W243C DENND1C_ENST00000543576.1_Missense_Mutation_p.W199C NM_024898.2 NP_079174.2 Q8IV53 DEN1C_HUMAN DENN/MADD domain containing 1C 243 DENN. clathrin-coated vesicle|cytosol guanyl-nucleotide exchange factor activity endometrium(3)|kidney(3)|large_intestine(1)|lung(3) 10 GCACGTGCTCCCAGCGCATGG 0.721000 3 2 0.004672 0.0048215 1 1 0 AC096649.3 0 broad.mit.edu 37 2 176190119 176190259 + RNA DEL GGTATCACAACCTCTACTCAGTTCTACTACAAACTGTCTCAAGAACTAGATTTATACAATCATGTACCTAAGCCCCGCAACAAAAGAGTACCCATTCTTCCTTTTGTTATCAGAGCAGGAGTGCTAGGTGTGCTGTGTGGT GGTATCACAACCTCTACTCAGTTCTACTACAAACTGTCTCAAGAACTAGATTTATACAATCATGTACCTAAGCCCCGCAACAAAAGAGTACCCATTCTTCCTTTTGTTATCAGAGCAGGAGTGCTAGGTGTGCTGTGTGGT - rs148912092 by1000genomes TCGA-DU-6404-02A-21D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e938b4c-fcb0-429e-88e9-ced190dcf6d1 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr2:176190119_176190259delGGTATCACAACCTCTACTCAGTTCTACTACAAACTGTCTCAAGAACTAGATTTATACAATCATGTACCTAAGCCCCGCAACAAAAGAGTACCCATTCTTCCTTTTGTTATCAGAGCAGGAGTGCTAGGTGTGCTGTGTGGT ENST00000438963.1 + 0 247 gctgtgtggcggtatcacaacctctactcagttctactacaaactgtctcaagaactagatttatacaatcatgtacctaagccccgcaacaaaagagtacccattcttccttttgttatcagagcaggagtgctaggtgtgctgtgtggtggtatcacaa 0.440 58 160 --- --- --- --- KCNN2 3781 broad.mit.edu 37 5 113698631 113698632 + In_Frame_Ins INS - - GCC rs34838882 by1000genomes TCGA-DU-6404-02A-21D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e938b4c-fcb0-429e-88e9-ced190dcf6d1 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr5:113698631_113698632insGCC ENST00000512097.3 + 2 1177_1178 c.159_160insGCC c.(157-162)gcccgc>gcGCCccgc p.53_54AR>APR KCNN2_ENST00000264773.3_In_Frame_Ins_p.53_54AR>APR Q9H2S1 KCNN2_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 53 Poly-Ala. integral to membrane calmodulin binding|small conductance calcium-activated potassium channel activity breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) CTGCAGCCGCTGCCGCCGCCGC 0.703 3 3 --- --- --- --- ATXN1 6310 broad.mit.edu 37 6 16327864 16327865 + In_Frame_Ins INS - - TGC TCGA-DU-6404-02A-21D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e938b4c-fcb0-429e-88e9-ced190dcf6d1 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr6:16327864_16327865insTGC ENST00000244769.4 - 8 1613_1614 c.677_678insGCA c.(676-678)cct>cGCAct p.226_226P>RT ATXN1_ENST00000436367.1_In_Frame_Ins_p.226_226P>RT NM_000332.3 NP_000323.2 P54253 ATX1_HUMAN ataxin 1 226 cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2) 44 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) CCCTGCTGAGGtgctgctgctg 0.653 4 6 --- --- --- --- FAM66B 0 broad.mit.edu 37 8 7196263 7196264 + RNA DEL AC AC - TCGA-DU-6404-02A-21D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e938b4c-fcb0-429e-88e9-ced190dcf6d1 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr8:7196263_7196264delAC ENST00000606573.1 - 0 703 ACTGAGGGGTacacacacacac 0.500 2 4 --- --- --- --- CSTF2T 23283 broad.mit.edu 37 10 53459220 53459222 + In_Frame_Del DEL CTC CTC - TCGA-DU-6404-02A-21D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e938b4c-fcb0-429e-88e9-ced190dcf6d1 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr10:53459220_53459222delCTC ENST00000331173.4 - 1 133_135 c.88_90delGAG c.(88-90)del p.E30del PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000373985.1_Intron NM_015235.2 NP_056050.1 Q9H0L4 CSTFT_HUMAN cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant 30 RRM. mRNA processing nucleus nucleotide binding|RNA binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122) CCTTTAACTGCTCCTCAGTTGCC 0.512 48 117 --- --- --- --- DEAF1 10522 broad.mit.edu 37 11 678724 678726 + In_Frame_Del DEL CTT CTT - TCGA-DU-6404-02A-21D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e938b4c-fcb0-429e-88e9-ced190dcf6d1 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr11:678724_678726delCTT ENST00000382409.3 - 9 1707_1709 c.1223_1225delAAG c.(1222-1227)gct>g p.EA408del DEAF1_ENST00000525904.1_5'UTR|DEAF1_ENST00000338675.6_In_Frame_Del_p.EA319del NM_021008.2 NP_066288.2 O75398 DEAF1_HUMAN DEAF1 transcription factor 408 Pro-rich. embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|extracellular region|nucleus protein binding|zinc ion binding breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 24 all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075) GGCAACGCAGCTTCTGGAAACGG 0.522 36 115 --- --- --- --- KRTAP5-5 439915 broad.mit.edu 37 11 1651199 1651200 + In_Frame_Ins INS - - GGCTGTGGCTCC rs71025763 TCGA-DU-6404-02A-21D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e938b4c-fcb0-429e-88e9-ced190dcf6d1 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr11:1651199_1651200insGGCTGTGGCTCC ENST00000399676.2 + 1 167_168 c.129_130insGGCTGTGGCTCC c.(127-132)gggctg>ggGGCTGTGGCTCCgctg p.43_44GL>GAVAPL NM_001001480.2 NP_001001480.2 Q701N2 KRA55_HUMAN keratin associated protein 5-5 43 G -> GGCGS (in Ref. 1; BAD20201 and 2; CAF31639). keratin filament endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1) 33 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) ccggctgtggaggctgtggggg 0.713 31 23 --- --- --- --- AGAP2 116986 broad.mit.edu 37 12 58124659 58124659 + Frame_Shift_Del DEL C C - rs113544406 TCGA-DU-6404-02A-21D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e938b4c-fcb0-429e-88e9-ced190dcf6d1 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr12:58124659delC ENST00000257897.3 - 11 1300 c.1215delG c.(1213-1215)ccfs p.P405fs AGAP2_ENST00000547588.1_Frame_Shift_Del_p.P741fs NM_014770.3 NP_055585.1 Q99490 AGAP2_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 741 G domain. axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction mitochondrion|nucleolus ARF GTPase activator activity|GTP binding|zinc ion binding breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1) 48 AGATGGCCCTCGGGGGCCGCT 0.587 8 17 --- --- --- --- CIITA 4261 broad.mit.edu 37 16 11001040 11001042 + In_Frame_Del DEL TTG TTG - TCGA-DU-6404-02A-21D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e938b4c-fcb0-429e-88e9-ced190dcf6d1 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr16:11001040_11001042delTTG ENST00000324288.8 + 11 1824_1826 c.1691_1693delTTG c.(1690-1695)tag>t p.FE564del CIITA_ENST00000381835.5_Intron|CIITA_ENST00000537380.1_Intron NM_000246.3 NP_000237.2 P33076 C2TA_HUMAN class II, major histocompatibility complex, transactivator 564 NACHT. interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent nucleus activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2) 12 GACGCCCTATTTGAGCTGTCCGG 0.631 T """FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6""" """PMBL, Hodgkin Lymphona, """ 12 16 --- --- --- --- CTD-2547E10.2 0 broad.mit.edu 37 16 21469994 21469994 + RNA DEL A A - TCGA-DU-6404-02A-21D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e938b4c-fcb0-429e-88e9-ced190dcf6d1 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr16:21469994delA ENST00000520823.2 - 0 749 ACTGTACATTAAAAAAAAAAA 0.294 2 4 --- --- --- --- SALL1 6299 broad.mit.edu 37 16 51175656 51175658 + In_Frame_Del DEL GCT GCT - rs13336129 byFrequency TCGA-DU-6404-02A-21D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e938b4c-fcb0-429e-88e9-ced190dcf6d1 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr16:51175656_51175658delGCT ENST00000440970.1 - 2 615_617 c.184_186delAGC c.(184-186)del p.S62del SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_In_Frame_Del_p.S159del|SALL1_ENST00000566102.1_Intron NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 159 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.S159G(1) NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) cgccgccgccgctgctgctgctg 0.631 8 52 --- --- --- --- C17orf97 400566 broad.mit.edu 37 17 263586 263645 + In_Frame_Del DEL GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC - rs71369083 byFrequency TCGA-DU-6404-02A-21D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e938b4c-fcb0-429e-88e9-ced190dcf6d1 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr17:263586_263645delGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC ENST00000360127.6 + 2 968_1027 c.952_1011delGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC c.(952-1011)del p.DPEALKGFHPDPKALKGFHP318del C17orf97_ENST00000571106.1_Intron|AC108004.3_ENST00000466740.2_RNA NM_001013672.4 NP_001013694.4 Q6ZQX7 CQ097_HUMAN chromosome 17 open reading frame 97 348 20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E. p.G334G(4)|p.P327P(1) breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1) 14 TTTCCACACTGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCCGACCCCGAGG 0.681 12 17 --- --- --- --- RP11-308D16.4 0 broad.mit.edu 37 X 136030244 136030245 + RNA INS - - T TCGA-DU-6404-02A-21D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e938b4c-fcb0-429e-88e9-ced190dcf6d1 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chrX:136030244_136030245insT ENST00000424306.1 + 0 2052 TGAGAACCTGCTTTTTTTTTTT 0.441 3 3 --- --- --- --- PADI6 353238 broad.mit.edu 37 1 17721696 17721698 + RNA DEL TTT TTT - rs35197313 TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr1:17721696_17721698delTTT ENST00000434762.2 + 0 1545 Q6TGC4 PADI6_HUMAN peptidyl arginine deiminase, type VI peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) CTTTTTCttgttttttttttttt 0.483 3 4 --- --- --- --- PSME4 23198 broad.mit.edu 37 2 54148051 54148051 + Frame_Shift_Del DEL G G - TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr2:54148051delG ENST00000404125.1 - 18 2292 c.2237delC c.(2236-2238)ctfs p.P747fs PSME4_ENST00000421748.2_Intron NM_014614.2 NP_055429.2 Q14997 PSME4_HUMAN proteasome (prosome, macropain) activator subunit 4 747 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|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|spermatogenesis|viral reproduction nuclear speck|proteasome complex binding breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2) 60 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) TTCAGAAGGAGGCTTGTCAAA 0.378 8 52 --- --- --- --- AC096649.3 0 broad.mit.edu 37 2 176190119 176190259 + RNA DEL GGTATCACAACCTCTACTCAGTTCTACTACAAACTGTCTCAAGAACTAGATTTATACAATCATGTACCTAAGCCCCGCAACAAAAGAGTACCCATTCTTCCTTTTGTTATCAGAGCAGGAGTGCTAGGTGTGCTGTGTGGT GGTATCACAACCTCTACTCAGTTCTACTACAAACTGTCTCAAGAACTAGATTTATACAATCATGTACCTAAGCCCCGCAACAAAAGAGTACCCATTCTTCCTTTTGTTATCAGAGCAGGAGTGCTAGGTGTGCTGTGTGGT - rs148912092 by1000genomes TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr2:176190119_176190259delGGTATCACAACCTCTACTCAGTTCTACTACAAACTGTCTCAAGAACTAGATTTATACAATCATGTACCTAAGCCCCGCAACAAAAGAGTACCCATTCTTCCTTTTGTTATCAGAGCAGGAGTGCTAGGTGTGCTGTGTGGT ENST00000438963.1 + 0 247 gctgtgtggcggtatcacaacctctactcagttctactacaaactgtctcaagaactagatttatacaatcatgtacctaagccccgcaacaaaagagtacccattcttccttttgttatcagagcaggagtgctaggtgtgctgtgtggtggtatcacaa 0.440 28 107 --- --- --- --- POLN 353497 broad.mit.edu 37 4 2172436 2172437 + Frame_Shift_Ins INS - - A TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr4:2172436_2172437insA ENST00000511885.2 - 13 1876_1877 c.1523_1524insT c.(1522-1524)tcafs p.S508fs POLN_ENST00000382865.1_Frame_Shift_Ins_p.S508fs|POLN_ENST00000515357.1_5'UTR Q7Z5Q5 DPOLN_HUMAN polymerase (DNA directed) nu 508 DNA repair|DNA replication nucleus DNA binding|DNA-directed DNA polymerase activity kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2) 28 OV - Ovarian serous cystadenocarcinoma(23;0.0955) GGTATTTCTGCAACCCCGTTCT 0.436 DNA polymerases (catalytic subunits) 7 124 --- --- --- --- KCNN2 3781 broad.mit.edu 37 5 113698631 113698632 + In_Frame_Ins INS - - GCC rs34838882 by1000genomes TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr5:113698631_113698632insGCC ENST00000512097.3 + 2 1177_1178 c.159_160insGCC c.(157-162)gcccgc>gcGCCccgc p.53_54AR>APR KCNN2_ENST00000264773.3_In_Frame_Ins_p.53_54AR>APR Q9H2S1 KCNN2_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 53 Poly-Ala. integral to membrane calmodulin binding|small conductance calcium-activated potassium channel activity breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) CTGCAGCCGCTGCCGCCGCCGC 0.703 4 2 --- --- --- --- PTCRA 171558 broad.mit.edu 37 6 42890769 42890769 + Frame_Shift_Del DEL G G - TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr6:42890769delG ENST00000304672.1 + 2 144 c.63delG c.(61-63)gtfs p.V21fs PTCRA_ENST00000441198.1_Intron|PTCRA_ENST00000446507.1_Intron NM_001243168.1|NM_138296.2 NP_001230097.1|NP_612153.2 Q6ISU1 PTCRA_HUMAN pre T-cell antigen receptor alpha 21 integral to membrane receptor activity large_intestine(2)|lung(4)|ovary(2) 8 Colorectal(47;0.196) all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388) TTGCAGGTGTGGGCGGCACAC 0.562 23 14 --- --- --- --- FAM66B 0 broad.mit.edu 37 8 7196263 7196264 + RNA DEL AC AC - TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr8:7196263_7196264delAC ENST00000606573.1 - 0 703 ACTGAGGGGTacacacacacac 0.500 3 4 --- --- --- --- KCNQ3 3786 broad.mit.edu 37 8 133150232 133150233 + Frame_Shift_Ins INS - - T TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr8:133150232_133150233insT ENST00000388996.4 - 12 2019_2020 c.1599_1600insA c.(1597-1602)aatcaafs p.NQ533fs KCNQ3_ENST00000521134.1_Frame_Shift_Ins_p.NQ413fs|KCNQ3_ENST00000519445.1_Frame_Shift_Ins_p.NQ533fs NM_004519.3 NP_004510.1 O43525 KCNQ3_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 3 533 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity p.F534I(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 70 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) GTCTCCTTGAATTTTTTTTTAT 0.455 8 169 --- --- --- --- NUTM2F 54754 broad.mit.edu 37 9 97080945 97080947 + In_Frame_Del DEL AGA AGA - TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr9:97080945_97080947delAGA ENST00000253262.4 - 7 2091_2093 c.2071_2073delTCT c.(2071-2073)del p.S691del NUTM2F_ENST00000341207.4_In_Frame_Del_p.S676del|NUTM2F_ENST00000335456.7_Intron NM_017561.1 NP_060031.1 NUT family member 2F p.S557delS(1) TGCTGGCAGGAGAAGGTGATGGG 0.611 7 3 --- --- --- --- KRTAP5-5 439915 broad.mit.edu 37 11 1651199 1651200 + In_Frame_Ins INS - - GGCTGTGGCTCC rs71025763 TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr11:1651199_1651200insGGCTGTGGCTCC ENST00000399676.2 + 1 167_168 c.129_130insGGCTGTGGCTCC c.(127-132)gggctg>ggGGCTGTGGCTCCgctg p.43_44GL>GAVAPL NM_001001480.2 NP_001001480.2 Q701N2 KRA55_HUMAN keratin associated protein 5-5 43 G -> GGCGS (in Ref. 1; BAD20201 and 2; CAF31639). keratin filament endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1) 33 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) ccggctgtggaggctgtggggg 0.713 120 50 --- --- --- --- GANAB 23193 broad.mit.edu 37 11 62397884 62397884 + Frame_Shift_Del DEL C C - TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr11:62397884delC ENST00000346178.4 - 13 1561 c.1546delG c.(1546-1548)atfs p.D516fs GANAB_ENST00000540933.1_Frame_Shift_Del_p.D397fs|GANAB_ENST00000534779.1_Frame_Shift_Del_p.D402fs|GANAB_ENST00000356638.3_Frame_Shift_Del_p.D494fs NM_001278192.1|NM_198335.2 NP_001265121.1|NP_938149.2 Q14697 GANAB_HUMAN glucosidase, alpha; neutral AB 494 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|Golgi apparatus|melanosome carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3) 35 TCAGAGCCATCCCGGGTTTTA 0.597 24 26 --- --- --- --- NTF3 4908 broad.mit.edu 37 12 5603608 5603609 + Frame_Shift_Ins INS - - C TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr12:5603608_5603609insC ENST00000423158.3 + 2 479_480 c.267_268insC c.(265-270)ggccgcfs p.R90fs NTF3_ENST00000331010.6_Frame_Shift_Ins_p.R77fs|NTF3_ENST00000535299.1_Intron NM_001102654.1 NP_001096124.1 P20783 NTF3_HUMAN neurotrophin 3 77 signal transduction extracellular region growth factor activity|neurotrophin receptor binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1) 22 AGCGGGGAGGGCCCGCCAAGTC 0.579 14 51 --- --- --- --- SALL1 6299 broad.mit.edu 37 16 51175656 51175658 + In_Frame_Del DEL GCT GCT - rs13336129 byFrequency TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr16:51175656_51175658delGCT ENST00000440970.1 - 2 615_617 c.184_186delAGC c.(184-186)del p.S62del SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_In_Frame_Del_p.S159del NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 159 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.S159G(1) NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) cgccgccgccgctgctgctgctg 0.631 10 42 --- --- --- --- RP5-991G20.1 0 broad.mit.edu 37 16 72763868 72763868 + RNA DEL C C - TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr16:72763868delC ENST00000563328.2 + 0 164 CGGTCCAAAACAAAAAAAAAA 0.433 2 4 --- --- --- --- C17orf97 400566 broad.mit.edu 37 17 263586 263645 + In_Frame_Del DEL GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC - rs71369083 byFrequency TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chr17:263586_263645delGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC ENST00000360127.6 + 2 968_1027 c.952_1011delGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC c.(952-1011)del p.DPEALKGFHPDPKALKGFHP318del AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron NM_001013672.4 NP_001013694.4 Q6ZQX7 CQ097_HUMAN chromosome 17 open reading frame 97 348 20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E. p.G334G(4)|p.P327P(1) breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1) 14 TTTCCACACTGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCCGACCCCGAGG 0.681 7 29 --- --- --- --- ZNF280C 55609 broad.mit.edu 37 X 129377549 129377573 + Frame_Shift_Del DEL ATTCTCAACAGTAACAGAGCTTTGT ATTCTCAACAGTAACAGAGCTTTGT - TCGA-DU-6404-02B-11D-A36O-08 TCGA-DU-6404-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87d134-4f50-4591-8693-fbb929e2f332 1895ec32-d356-44f2-94e4-7e43bf8ea156 g.chrX:129377549_129377573delATTCTCAACAGTAACAGAGCTTTGT ENST00000370978.4 - 5 498_522 c.345_369delACAAAGCTCTGTTACTGTTGAGAAT c.(343-369)tcfs p.SQSSVTVEN115fs NM_017666.4 NP_060136.1 Q8ND82 Z280C_HUMAN zinc finger protein 280C 115 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 26 GTTTAGACGCATTCTCAACAGTAACAGAGCTTTGTGAAGATTTAG 0.400 8 85 --- --- --- ---