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 SHFM1 7979 broad.mit.edu 37 7 96303092 96303092 + Missense_Mutation SNP T T A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr7:96303092T>A ENST00000413065.1 - 3 337 c.250A>T c.(250-252)Agt>Tgt p.S84C SHFM1_ENST00000417009.1_Intron|SHFM1_ENST00000444799.1_Intron P60896 DSS1_HUMAN split hand/foot malformation (ectrodactyly) type 1 0 proteolysis proteasome complex peptidase activity|protein binding breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 5 all_cancers(62;4.24e-09)|all_epithelial(64;5.59e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0353)|Lung NSC(181;0.0987) AGGAAAGCACTGCACATTCTT 0.453000 Homologous recombination 12 31 0 0 0.093190 0 0 BRWD3 254065 broad.mit.edu 37 X 79947378 79947378 + Missense_Mutation SNP G G A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chrX:79947378G>A ENST00000373275.4 - 30 3641 c.3425C>T c.(3424-3426)tCc>tTc p.S1142F BRWD3_ENST00000473691.1_5'UTR NM_153252.4 NP_694984.4 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 1142 breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3) 87 TTCGTCTCTGGAATGAGCCCC 0.478000 11 26 0 0 0.093190 0 0 PLXNA2 5362 broad.mit.edu 37 1 208218554 208218554 + Splice_Site SNP C C T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr1:208218554C>T ENST00000367033.3 - 19 4254 c.3495_splice c.e19-1 p.G1166_splice NM_025179.3 NP_079455.3 O75051 PLXA2_HUMAN plexin A2 1166 IPT/TIG 4. axon guidance integral to membrane|intracellular|plasma membrane NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3) 80 OV - Ovarian serous cystadenocarcinoma(81;0.199) GAGGTTTTTGCCCTGTAGAGA 0.498000 3 77 0 0 0.150653 0 0 TTN 7273 broad.mit.edu 37 2 179483562 179483562 + Missense_Mutation SNP G G T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr2:179483562G>T ENST00000589042.1 - 251 46939 c.46715C>A c.(46714-46716)aCa>aAa p.T15572K TTN_ENST00000460472.2_Missense_Mutation_p.T6507K|TTN_ENST00000342992.6_Missense_Mutation_p.T13004K|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T6699K|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T13931K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T6632K|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 13931 Fibronectin type-III 13. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTGGTCAGCTGTCTTGATTTT 0.403000 26 11 1.26454e-06 1.40342e-06 0.108266 1 0 NBPF10 100132406 broad.mit.edu 37 1 145302714 145302714 + Silent SNP A A G rs9424867 TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr1:145302714A>G ENST00000342960.5 + 8 1187 c.1152A>G c.(1150-1152)ttA>ttG p.L384L NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000369339.2_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 384 p.L113L(3)|p.L384L(3) 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) AGGAGAAGTTACGGGAAGGGA 0.527000 4 161 0 0 0.014758 0 0 ANKRD27 84079 broad.mit.edu 37 19 33110271 33110271 + Silent SNP G G A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr19:33110271G>A ENST00000306065.4 - 20 2060 c.1902C>T c.(1900-1902)tcC>tcT p.S634S NM_032139.2 NP_115515.2 Q96NW4 ANR27_HUMAN ankyrin repeat domain 27 (VPS9 domain) 634 early endosome to late endosome transport early endosome|lysosome GTPase activator activity|guanyl-nucleotide exchange factor activity breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 42 Esophageal squamous(110;0.137) AGCGCTGCGGGGACTGCACAG 0.602000 20 52 0 0 0.043863 0 0 TRPM6 140803 broad.mit.edu 37 9 77411725 77411725 + Nonsense_Mutation SNP G G A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr9:77411725G>A ENST00000451710.3 - 18 2560 c.2323C>T c.(2323-2325)Cag>Tag p.Q775* TRPM6_ENST00000449912.2_Nonsense_Mutation_p.Q770*|TRPM6_ENST00000360774.1_Nonsense_Mutation_p.Q775*|TRPM6_ENST00000361255.3_Nonsense_Mutation_p.Q770*|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Nonsense_Mutation_p.Q775* Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 775 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 TGGAAGTCCTGGGACTGGGGA 0.368000 22 122 0 0 0.099896 0 0 GPR12 2835 broad.mit.edu 37 13 27333487 27333487 + Missense_Mutation SNP T T A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr13:27333487T>A ENST00000405846.3 - 2 699 c.478A>T c.(478-480)Atg>Ttg p.M160L GPR12_ENST00000381436.2_Missense_Mutation_p.M160L NM_005288.3 NP_005279.1 P47775 GPR12_HUMAN G protein-coupled receptor 12 160 integral to plasma membrane endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 Colorectal(5;5.77e-05) Breast(139;0.198) Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184) ATGACGAGCATGACATAGGTA 0.592000 14 17 0 0 0.119110 0 0 PTPRM 5797 broad.mit.edu 37 18 8380391 8380391 + Missense_Mutation SNP C C T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr18:8380391C>T ENST00000332175.8 + 27 4882 c.3845C>T c.(3844-3846)tCc>tTc p.S1282F PTPRM_ENST00000580170.1_Missense_Mutation_p.S1295F|PTPRM_ENST00000444013.1_Missense_Mutation_p.S1069F|PTPRM_ENST00000400053.4_Missense_Mutation_p.S1220F|PTPRM_ENST00000400060.4_Missense_Mutation_p.S1296F NM_002845.3 NP_002836.3 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 1282 Tyrosine-protein phosphatase 2. homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 90 Colorectal(10;0.234) CACTGCACATCCGTAGTTATG 0.458000 14 39 0 0 0.146539 0 0 MED1 5469 broad.mit.edu 37 17 37564503 37564503 + Missense_Mutation SNP G G T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr17:37564503G>T ENST00000300651.6 - 17 4194 c.3971C>A c.(3970-3972)cCa>cAa p.P1324Q MED1_ENST00000394287.3_Intron NM_004774.3 NP_004765.2 Q15648 MED1_HUMAN mediator complex subunit 1 1324 Interaction with TP53.|Ser-rich. androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1) 59 Ovarian(249;1.78e-06)|Lung SC(565;0.0262) Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146) UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649) GCCGTCCAGTGGGTCTTCACC 0.512000 HNSCC(31;0.082) 34 84 4.62619e-21 6.45984e-21 0.069456 1 0 CATSPERD 257062 broad.mit.edu 37 19 5778610 5778610 + Missense_Mutation SNP G G T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr19:5778610G>T ENST00000381624.3 + 22 2381 c.2320G>T c.(2320-2322)Gcc>Tcc p.A774S CATSPERD_ENST00000309164.7_3'UTR NM_152784.3 NP_689997.3 Q86XM0 TM146_HUMAN catsper channel auxiliary subunit delta 774 integral to membrane CCAGTTCAGGGCCTCAGCCAC 0.652000 86 68 7.69131e-47 1.13595e-46 0.139131 1 0 DDX1 1653 broad.mit.edu 37 2 15758345 15758345 + Missense_Mutation SNP G G A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr2:15758345G>A ENST00000381341.2 + 17 1546 c.1157G>A c.(1156-1158)aGg>aAg p.R386K DDX1_ENST00000233084.3_Missense_Mutation_p.R386K Q92499 DDX1_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 1 386 Helicase ATP-binding.|Necessary for interaction with RELA. DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent cleavage body|stress granule|tRNA-splicing ligase complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197) all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694) GBM - Glioblastoma multiforme(3;0.00969) Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133) TTTATAAATAGGATGCACAAT 0.299000 38 116 0 0 0.098360 0 0 METTL13 51603 broad.mit.edu 37 1 171756906 171756906 + Missense_Mutation SNP G G T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr1:171756906G>T ENST00000361735.3 + 4 1411 c.1145G>T c.(1144-1146)gGg>gTg p.G382V METTL13_ENST00000362019.3_Missense_Mutation_p.G296V|METTL13_ENST00000458517.1_Missense_Mutation_p.G381V|METTL13_ENST00000367737.5_Missense_Mutation_p.G226V NM_015935.4 NP_057019.3 Q8N6R0 MTL13_HUMAN methyltransferase like 13 382 methyltransferase activity|protein binding breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3) 41 GGGGACATTGGGGTCCGGACC 0.502000 12 27 1.05317e-09 1.25987e-09 0.119110 1 0 ARMCX2 9823 broad.mit.edu 37 X 100911056 100911056 + Missense_Mutation SNP C C G TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chrX:100911056C>G ENST00000328766.5 - 5 1972 c.1519G>C c.(1519-1521)Gtc>Ctc p.V507L ARMCX2_ENST00000330154.2_Missense_Mutation_p.V507L|ARMCX2_ENST00000356824.4_Missense_Mutation_p.V507L NM_014782.5 NP_055597.1 Q7L311 ARMX2_HUMAN armadillo repeat containing, X-linked 2 507 integral to membrane binding NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1) 29 ATGGAATTGACAAGCAGGTGC 0.378000 13 186 0 0 0.119110 0 0 KSR1 8844 broad.mit.edu 37 17 25932786 25932786 + Silent SNP G G T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr17:25932786G>T ENST00000398988.3 + 16 2041 c.1596G>T c.(1594-1596)gtG>gtT p.V532V KSR1_ENST00000268763.6_Silent_p.V532V|KSR1_ENST00000509603.2_Silent_p.V647V|KSR1_ENST00000319524.6_Silent_p.V669V NM_014238.1 NP_055053.1 Q8IVT5 KSR1_HUMAN kinase suppressor of ras 1 667 Ras protein signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1) 28 Lung NSC(42;0.00836) BRCA - Breast invasive adenocarcinoma(3;0.00122) UCEC - Uterine corpus endometrioid carcinoma (53;0.168) ATGAGAACGTGGTGCTCTTCA 0.597000 4 7 0.00024832 0.000261246 0.150653 1 0 CRB1 23418 broad.mit.edu 37 1 197390936 197390936 + Missense_Mutation SNP T T A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr1:197390936T>A ENST00000367397.1 + 2 979 c.121T>A c.(121-123)Tct>Act p.S41T CRB1_ENST00000367400.3_Missense_Mutation_p.S660T|CRB1_ENST00000535699.1_Missense_Mutation_p.S591T|CRB1_ENST00000538660.1_Missense_Mutation_p.S660T|CRB1_ENST00000367399.2_Missense_Mutation_p.S548T|CRB1_ENST00000544212.1_Missense_Mutation_p.S141T|CRB1_ENST00000543483.1_Silent_p.R289R P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 660 EGF-like 1. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 GAACATCTCGTCTGGCTCATC 0.443000 35 68 0 0 0.064281 0 0 CCDC178 374864 broad.mit.edu 37 18 30554564 30554564 + Missense_Mutation SNP C C A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr18:30554564C>A ENST00000383096.3 - 22 2652 c.2470G>T c.(2470-2472)Gcc>Tcc p.A824S CCDC178_ENST00000406524.2_Missense_Mutation_p.A848S|CCDC178_ENST00000403303.1_Missense_Mutation_p.A824S|CCDC178_ENST00000300227.8_Missense_Mutation_p.A786S|CCDC178_ENST00000581852.1_Missense_Mutation_p.A29S|CCDC178_ENST00000583930.1_Missense_Mutation_p.A848S|CCDC178_ENST00000579947.1_Missense_Mutation_p.A824S|CCDC178_ENST00000402325.1_Missense_Mutation_p.A774S|CCDC178_ENST00000579916.1_Missense_Mutation_p.A144S coiled-coil domain containing 178 TGGAAGTTGGCCAGCCTCATC 0.493000 14 41 0.00316338 0.00323069 0.132662 1 0 FN1 2335 broad.mit.edu 37 2 216235068 216235068 + Missense_Mutation SNP C C T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr2:216235068C>T ENST00000354785.4 - 41 7171 c.6802G>A c.(6802-6804)Gac>Aac p.D2268N FN1_ENST00000421182.1_Missense_Mutation_p.D2031N|FN1_ENST00000432072.2_Missense_Mutation_p.D2058N|FN1_ENST00000359671.1_Missense_Mutation_p.D2177N|FN1_ENST00000345488.5_Intron|FN1_ENST00000336916.4_Missense_Mutation_p.D2146N|FN1_ENST00000323926.6_Missense_Mutation_p.D2237N|FN1_ENST00000357867.4_Missense_Mutation_p.D1967N|FN1_ENST00000446046.1_Missense_Mutation_p.D2121N|FN1_ENST00000443816.1_Missense_Mutation_p.D2056N|FN1_ENST00000357009.2_Intron|FN1_ENST00000356005.4_Missense_Mutation_p.D2087N|FN1_ENST00000346544.3_Missense_Mutation_p.D2057N P02751 FINC_HUMAN fibronectin 1 2177 Fibrin-binding 2.|Fibronectin type-I 11. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CTCTGCTGGTCTTTCAGTGCC 0.522000 5 29 0 0 0.021553 0 0 ANKRD6 22881 broad.mit.edu 37 6 90340371 90340371 + Missense_Mutation SNP G G T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr6:90340371G>T ENST00000369408.5 + 15 2076 c.1727G>T c.(1726-1728)gGg>gTg p.G576V ANKRD6_ENST00000447838.2_Missense_Mutation_p.G606V|ANKRD6_ENST00000522441.1_Missense_Mutation_p.G611V|ANKRD6_ENST00000520793.1_Missense_Mutation_p.G547V|LYRM2_ENST00000520441.1_Intron|ANKRD6_ENST00000339746.4_Missense_Mutation_p.G611V NM_001242813.1 NP_001229742.1 Q9Y2G4 ANKR6_HUMAN ankyrin repeat domain 6 611 protein binding NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2) 21 all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239) BRCA - Breast invasive adenocarcinoma(108;0.0209) CAGCAGGCTGGGCCCTGCGTC 0.582000 6 10 0.00116845 0.00119649 0.021553 1 0 TBX22 50945 broad.mit.edu 37 X 79286015 79286015 + Missense_Mutation SNP C C T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chrX:79286015C>T ENST00000442340.1 + 9 1098 c.608C>T c.(607-609)tCt>tTt p.S203F TBX22_ENST00000373291.1_Missense_Mutation_p.S203F|TBX22_ENST00000373296.3_Missense_Mutation_p.S323F|TBX22_ENST00000373294.5_Missense_Mutation_p.S323F NM_001109878.1|NM_001109879.1 NP_001103348.1|NP_001103349.1 Q9Y458 TBX22_HUMAN T-box 22 323 multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 AGTGGCTCATCTCCAGTGACC 0.428000 33 64 0 0 0.074837 0 0 ITGB5 3693 broad.mit.edu 37 3 124538590 124538590 + Missense_Mutation SNP T T C TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr3:124538590T>C ENST00000296181.4 - 7 1330 c.1034A>G c.(1033-1035)tAc>tGc p.Y345C ITGB5_ENST00000488466.1_Intron NM_002213.3 NP_002204.2 P18084 ITB5_HUMAN integrin, beta 5 345 VWFA. cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction integrin complex receptor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 30 GBM - Glioblastoma multiforme(114;0.163) GCATACCTTGTACAGCATATA 0.483000 21 95 0 0 0.076483 0 0 LCE1A 353131 broad.mit.edu 37 1 152800095 152800095 + Silent SNP A A G TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr1:152800095A>G ENST00000335123.2 + 1 147 c.147A>G c.(145-147)ggA>ggG p.G49G NM_178348.2 NP_848125.1 Q5T7P2 LCE1A_HUMAN late cornified envelope 1A 49 Cys-rich. keratinization endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1) 8 Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) TCAGCTCCGGAGGCTGCTGTG 0.672000 20 39 0 0 0.091800 0 0 POLM 27434 broad.mit.edu 37 7 44119312 44119312 + Missense_Mutation SNP G G A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr7:44119312G>A ENST00000242248.5 - 4 601 c.500C>T c.(499-501)gCa>gTa p.A167V POLM_ENST00000395831.3_Missense_Mutation_p.A167V|POLM_ENST00000335195.6_Missense_Mutation_p.A167V NM_013284.2 NP_037416.1 Q9NP87 DPOLM_HUMAN polymerase (DNA directed), mu 167 DNA recombination|DNA repair nucleus DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2) 22 TTCAAAGCCTGCTGCCTCGGC 0.652000 DNA polymerases (catalytic subunits) 19 41 0 0 0.043863 0 0 MID2 11043 broad.mit.edu 37 X 107169922 107169922 + Nonsense_Mutation SNP C C A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chrX:107169922C>A ENST00000262843.6 + 10 2375 c.1827C>A c.(1825-1827)taC>taA p.Y609* RP6-191P20.4_ENST00000430140.1_RNA|MID2_ENST00000443968.2_Nonsense_Mutation_p.Y579* NM_012216.3|NM_052817.2 NP_036348.2|NP_438112.2 Q9UJV3 TRIM1_HUMAN midline 2 609 B30.2/SPRY. centrosome|microtubule ligase activity|zinc ion binding p.Y589*(1)|p.Y609*(1) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2) 19 GCATTGCCTACAAATCAGCTC 0.393000 21 72 6.21321e-17 8.28428e-17 0.076483 1 0 ZNF235 9310 broad.mit.edu 37 19 44791701 44791701 + Silent SNP A A G TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr19:44791701A>G ENST00000291182.4 - 5 1989 c.1887T>C c.(1885-1887)tgT>tgC p.C629C ZNF235_ENST00000589799.1_Intron|ZNF235_ENST00000589248.1_Intron NM_004234.4 NP_004225.3 Q14590 ZN235_HUMAN zinc finger protein 235 629 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 29 Prostate(69;0.0352)|all_neural(266;0.116) CACAAGTGTCACATTTATATG 0.443000 55 58 0 0 0.139131 0 0 NLRP12 91662 broad.mit.edu 37 19 54327405 54327405 + Silent SNP G G A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr19:54327405G>A ENST00000324134.6 - 1 192 c.24C>T c.(22-24)gaC>gaT p.D8D NLRP12_ENST00000391772.1_Silent_p.D8D|NLRP12_ENST00000391773.1_Silent_p.D8D|NLRP12_ENST00000391775.3_Silent_p.D8D|NLRP12_ENST00000354278.3_Silent_p.D8D|NLRP12_ENST00000351894.4_Silent_p.D8D|NLRP12_ENST00000535162.1_Silent_p.D8D|NLRP12_ENST00000345770.5_Silent_p.D8D NM_001277126.1|NM_144687.2 NP_001264055.1|NP_653288.1 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 8 DAPIN. negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding p.D8E(1) NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) GACAGAGGCCGTCCCTGCCTG 0.612000 15 61 0 0 0.146539 0 0 RNF213 57674 broad.mit.edu 37 17 78363670 78363670 + Missense_Mutation SNP C C G TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr17:78363670C>G ENST00000582970.1 + 66 15381 c.15238C>G c.(15238-15240)Cag>Gag p.Q5080E CTD-2047H16.4_ENST00000573394.1_RNA|RNF213_ENST00000427003.3_3'UTR|RNF213_ENST00000508628.2_Missense_Mutation_p.Q5129E|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.Q3153E NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 0 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) TGCCCTCTGGCAGTTCCTGTC 0.537000 27 46 0 0 0.125774 0 0 BAI3 577 broad.mit.edu 37 6 69685160 69685160 + Missense_Mutation SNP T T A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr6:69685160T>A ENST00000370598.1 + 10 2483 c.1662T>A c.(1660-1662)caT>caA p.H554Q NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 554 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) TCAGTCTTCATGGAGTGGCCT 0.468000 11 41 0 0 0.105934 0 0 RFX6 222546 broad.mit.edu 37 6 117248568 117248568 + Missense_Mutation SNP C C T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr6:117248568C>T ENST00000332958.2 + 17 2280 c.2264C>T c.(2263-2265)tCt>tTt p.S755F NM_173560.3 NP_775831.2 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 755 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 CGGCCACCGTCTAGCTATGGC 0.517000 14 36 0 0 0.119110 0 0 CACNA2D1 781 broad.mit.edu 37 7 81693654 81693654 + Missense_Mutation SNP C C A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr7:81693654C>A ENST00000356860.3 - 9 1083 c.745G>T c.(745-747)Gca>Tca p.A249S CACNA2D1_ENST00000356253.5_Missense_Mutation_p.A249S|CACNA2D1_ENST00000423588.1_Missense_Mutation_p.A249S NM_000722.2 NP_000713.2 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 1 249 voltage-gated calcium channel complex metal ion binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) TTAGGAGATGCAGCTCCTTGG 0.313000 9 28 1.76689e-08 2.0375e-08 0.058154 1 0 DACH2 117154 broad.mit.edu 37 X 86067962 86067962 + Missense_Mutation SNP T T G TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chrX:86067962T>G ENST00000373131.1 + 7 1468 c.1305T>G c.(1303-1305)ttT>ttG p.F435L DACH2_ENST00000508860.1_Missense_Mutation_p.F281L|DACH2_ENST00000477378.2_3'UTR|DACH2_ENST00000373125.4_Missense_Mutation_p.F448L|DACH2_ENST00000510272.1_Missense_Mutation_p.F229L NM_001139514.1 NP_001132986.1 Q96NX9 DACH2_HUMAN dachshund homolog 2 (Drosophila) 448 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|nucleotide binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 71 CATTCATTTTTGCTGATAGTC 0.423000 8 15 0 0 0.058154 0 0 FHL1 2273 broad.mit.edu 37 X 135291444 135291444 + Missense_Mutation SNP C C A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chrX:135291444C>A ENST00000394155.2 + 7 1060 c.731C>A c.(730-732)gCt>gAt p.A244D FHL1_ENST00000370690.3_Intron|FHL1_ENST00000345434.3_Missense_Mutation_p.A244D|FHL1_ENST00000535737.1_Intron|FHL1_ENST00000370676.3_Intron|FHL1_ENST00000539015.1_Intron|FHL1_ENST00000370683.1_Intron|FHL1_ENST00000394153.2_Intron|FHL1_ENST00000543669.1_Intron NM_001159702.2 NP_001153174.1 Q13642 FHL1_HUMAN four and a half LIM domains 1 244 cell differentiation|cell growth|muscle organ development|organ morphogenesis cytosol|nucleus|plasma membrane protein binding|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(192;0.000127) GTCTCTAAAGCTAGGAAGCCC 0.572000 OREG0019943 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 41 0.000442599 0.000460591 0.058154 1 0 PASD1 139135 broad.mit.edu 37 X 150789407 150789407 + Missense_Mutation SNP G G C TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chrX:150789407G>C ENST00000370357.4 + 5 458 c.213G>C c.(211-213)gaG>gaC p.E71D NM_173493.2 NP_775764.2 Q8IV76 PASD1_HUMAN PAS domain containing 1 71 PAS. nucleus signal transducer activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) GCCAGGCTGAGATTGTGGGCA 0.408000 27 84 0 0 0.125774 0 0 TUBE1 51175 broad.mit.edu 37 6 112397183 112397183 + Missense_Mutation SNP C C G TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr6:112397183C>G ENST00000368662.5 - 8 847 c.769G>C c.(769-771)Gca>Cca p.A257P TUBE1_ENST00000604814.1_5'UTR NM_016262.4 NP_057346.1 Q9UJT0 TBE_HUMAN tubulin, epsilon 1 257 centrosome cycle|microtubule-based movement|protein polymerization microtubule|pericentriolar material GTP binding|GTPase activity|structural constituent of cytoskeleton cervix(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 12 all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1) all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246) TTATTCATTGCATCAAAGGGC 0.383000 59 89 0 0 0.139131 0 0 HCCS 3052 broad.mit.edu 37 X 11139818 11139818 + Missense_Mutation SNP G G T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chrX:11139818G>T ENST00000321143.4 + 7 897 c.695G>T c.(694-696)gGt>gTt p.G232V HCCS_ENST00000380762.4_Missense_Mutation_p.G232V|HCCS_ENST00000380763.3_Missense_Mutation_p.G232V|ARHGAP6_ENST00000534860.1_Intron NM_001122608.2|NM_001171991.2|NM_005333.4 NP_001116080.1|NP_001165462.1|NP_005324.3 P53701 CCHL_HUMAN holocytochrome c synthase 232 organ morphogenesis|oxidation-reduction process mitochondrial inner membrane holocytochrome-c synthase activity|metal ion binding kidney(1)|large_intestine(3)|lung(3) 7 TATGATGGTGGTGAAGTCAAC 0.448000 30 90 1.1423e-28 1.64904e-28 0.144211 1 0 CYP2C9 1559 broad.mit.edu 37 10 96702062 96702062 + Missense_Mutation SNP G G A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr10:96702062G>A ENST00000260682.6 + 3 457 c.445G>A c.(445-447)Gcc>Acc p.A149T CYP2C9_ENST00000461906.1_3'UTR NM_000771.3 NP_000762.2 P11712 CP2C9_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 9 149 exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 Colorectal(252;0.0902) all cancers(201;6.93e-05) Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744) TCAAGAGGAAGCCCGCTGCCT 0.502000 34 41 0 0 0.086207 0 0 SNTG1 54212 broad.mit.edu 37 8 51571220 51571220 + Silent SNP C C A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr8:51571220C>A ENST00000522124.1 + 15 1696 c.1035C>A c.(1033-1035)ctC>ctA p.L345L SNTG1_ENST00000276467.5_Silent_p.L345L|SNTG1_ENST00000518864.1_Silent_p.L345L|SNTG1_ENST00000517473.1_Silent_p.L345L NM_018967.2 NP_061840.1 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 345 PH. cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding p.L345L(2) NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 66 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) GCAAGATCCTCAAGGTATGAT 0.373000 7 40 1.06961e-07 1.22241e-07 0.038147 1 0 MLLT4 4301 broad.mit.edu 37 6 168347424 168347424 + Missense_Mutation SNP G G C TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr6:168347424G>C ENST00000366806.2 + 27 3517 c.3375G>C c.(3373-3375)aaG>aaC p.K1125N MLLT4_ENST00000351017.4_Missense_Mutation_p.K1132N|MLLT4_ENST00000447894.2_Missense_Mutation_p.K1125N|MLLT4_ENST00000344191.4_Missense_Mutation_p.K1125N|MLLT4_ENST00000400822.3_Missense_Mutation_p.K1124N|MLLT4_ENST00000392108.3_Missense_Mutation_p.K1125N|MLLT4_ENST00000392112.1_Missense_Mutation_p.K1108N|MLLT4_ENST00000507679.1_3'UTR P55196 AFAD_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 1125 adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction adherens junction|cell-cell junction|cytosol|nucleus protein C-terminus binding p.S1126_E1130delSEGFE(1)|p.S1110_E1114delSEGFE(1) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(66;1.07e-05)|Ovarian(120;0.024) Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117) CCCGACCAAAGAGTGAAGGCT 0.403000 T MLL AL 26 52 0 0 0.083992 0 0 CTNND2 1501 broad.mit.edu 37 5 11346593 11346593 + Nonsense_Mutation SNP G G A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr5:11346593G>A ENST00000304623.8 - 9 1708 c.1519C>T c.(1519-1521)Cag>Tag p.Q507* CTNND2_ENST00000458100.2_Nonsense_Mutation_p.Q74*|CTNND2_ENST00000511377.1_Nonsense_Mutation_p.Q416*|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Nonsense_Mutation_p.Q170*|CTNND2_ENST00000359640.2_Nonsense_Mutation_p.Q507* NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 507 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 GGACAATACTGCAGCTGTCGG 0.627000 23 86 0 0 0.099896 0 0 RC3H1 149041 broad.mit.edu 37 1 173907909 173907909 + Missense_Mutation SNP C C A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr1:173907909C>A ENST00000367696.2 - 20 3703 c.3352G>T c.(3352-3354)Gat>Tat p.D1118Y RC3H1_ENST00000258349.4_Missense_Mutation_p.D1118Y|RC3H1_ENST00000367694.2_Missense_Mutation_p.D1110Y Q5TC82 RC3H1_HUMAN ring finger and CCCH-type domains 1 1118 cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway cytoplasmic mRNA processing body|stress granule mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 50 TCATTATTATCCCCTCCTCCC 0.463000 16 68 1.5739e-10 1.92477e-10 0.146539 1 0 ADRA1A 148 broad.mit.edu 37 8 26721956 26721956 + Silent SNP C C T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr8:26721956C>T ENST00000380573.3 - 2 1554 c.531G>A c.(529-531)caG>caA p.Q177Q ADRA1A_ENST00000380581.2_Silent_p.Q177Q|ADRA1A_ENST00000519229.1_Silent_p.Q177Q|ADRA1A_ENST00000380572.3_Silent_p.Q177Q|ADRA1A_ENST00000380582.3_Silent_p.Q177Q|ADRA1A_ENST00000380587.1_Silent_p.Q177Q|ADRA1A_ENST00000380586.1_Silent_p.Q177Q|ADRA1A_ENST00000358857.5_Silent_p.Q177Q|ADRA1A_ENST00000276393.4_Silent_p.Q177Q|ADRA1A_ENST00000354550.4_Silent_p.Q177Q P35348 ADA1A_HUMAN adrenoceptor alpha 1A 177 activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction integral to plasma membrane alpha1-adrenergic receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1) 36 all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115) Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246) CCTCGTTGATCTGGCAGATGG 0.627000 8 27 0 0 0.047766 0 0 CSMD3 114788 broad.mit.edu 37 8 113318352 113318352 + Missense_Mutation SNP G G T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr8:113318352G>T ENST00000297405.5 - 51 8199 c.7955C>A c.(7954-7956)aCg>aAg p.T2652K CSMD3_ENST00000352409.3_Missense_Mutation_p.T2582K|CSMD3_ENST00000455883.2_Missense_Mutation_p.T2548K|CSMD3_ENST00000343508.3_Missense_Mutation_p.T2612K NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2652 Sushi 15. integral to membrane|plasma membrane p.T2652R(1) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 GGTAACTCGCGTTCCTACCAA 0.383000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 21 70 4.35082e-09 5.12489e-09 0.055883 1 0 SLC17A8 246213 broad.mit.edu 37 12 100797842 100797842 + Missense_Mutation SNP C C A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr12:100797842C>A ENST00000323346.5 + 9 1393 c.1080C>A c.(1078-1080)caC>caA p.H360Q SLC17A8_ENST00000392989.3_Missense_Mutation_p.H310Q NM_001145288.1|NM_139319.2 NP_001138760.1|NP_647480.1 Q8NDX2 VGLU3_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 8 360 neurotransmitter transport|sensory perception of sound|sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 44 CAGTCCCACACATGGTTATGA 0.433000 17 45 2.39187e-15 3.12408e-15 0.049695 1 0 PDZD8 118987 broad.mit.edu 37 10 119044794 119044794 + Missense_Mutation SNP C C A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr10:119044794C>A ENST00000334464.5 - 5 1689 c.1450G>T c.(1450-1452)Ggg>Tgg p.G484W PDZD8_ENST00000482496.1_5'UTR NM_173791.3 NP_776152.1 Q8NEN9 PDZD8_HUMAN PDZ domain containing 8 484 intracellular signal transduction metal ion binding p.G484W(1) kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3) 38 Colorectal(252;0.19) all cancers(201;0.0121) ACTGTCAACCCGGCAGCTTCC 0.438000 4 137 0.150653 0.152239 0.150653 1 0 MEFV 4210 broad.mit.edu 37 16 3293434 3293434 + Nonsense_Mutation SNP C C A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr16:3293434C>A ENST00000219596.1 - 10 2092 c.2053G>T c.(2053-2055)Gag>Tag p.E685* MEFV_ENST00000536379.1_Nonsense_Mutation_p.E474*|MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000339854.4_Nonsense_Mutation_p.E505* NM_000243.2 NP_000234.1 O15553 MEFV_HUMAN Mediterranean fever 685 B30.2/SPRY. inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6) 50 Colchicine(DB01394) TAGCCATTCTCTGGCGACAGA 0.552000 50 113 1.4374e-25 2.06727e-25 0.139131 1 0 ZNF536 9745 broad.mit.edu 37 19 30934689 30934689 + Missense_Mutation SNP G G T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr19:30934689G>T ENST00000355537.3 + 2 367 c.220G>T c.(220-222)Ggc>Tgc p.G74C NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 74 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) GCCCATGAGCGGCCAGCCCAT 0.682000 30 47 9.65021e-13 1.22705e-12 0.153744 1 0 UNC5D 137970 broad.mit.edu 37 8 35579781 35579781 + Missense_Mutation SNP G G T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr8:35579781G>T ENST00000287272.2 + 8 1023 c.1003G>T c.(1003-1005)Gtg>Ttg p.V335L UNC5D_ENST00000404895.2_Missense_Mutation_p.V391L|UNC5D_ENST00000453357.2_Missense_Mutation_p.V386L|UNC5D_ENST00000420357.1_Missense_Mutation_p.V324L|UNC5D_ENST00000416672.1_Missense_Mutation_p.V396L Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 391 TSP type-1 2. apoptosis|axon guidance integral to membrane receptor activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) TGCTGCCGTCGTGGCCGTTGC 0.522000 57 136 3.89483e-19 5.32247e-19 0.139131 1 0 BBS9 27241 broad.mit.edu 37 7 33217197 33217197 + Missense_Mutation SNP G G T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr7:33217197G>T ENST00000242067.6 + 5 957 c.436G>T c.(436-438)Gta>Tta p.V146L BBS9_ENST00000396127.2_Missense_Mutation_p.V146L|BBS9_ENST00000355070.2_Missense_Mutation_p.V146L|BBS9_ENST00000350941.3_Missense_Mutation_p.V146L|BBS9_ENST00000425508.2_Missense_Mutation_p.V101L|BBS9_ENST00000354265.4_Missense_Mutation_p.V146L NM_198428.2 NP_940820.1 Q3SYG4 PTHB1_HUMAN Bardet-Biedl syndrome 9 146 fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding BBS9/PKD1L1(2) NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(11;0.0894) ATTTGGTGGTGTAAAAGGTAA 0.353000 Bardet-Biedl syndrome 28 53 6.07407e-21 8.45089e-21 0.125774 1 0 LAMB1 3912 broad.mit.edu 37 7 107638890 107638890 + Silent SNP C C T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr7:107638890C>T ENST00000393561.1 - 2 517 c.333G>A c.(331-333)gaG>gaA p.E111E LAMB1_ENST00000222399.6_Silent_p.E87E|LAMB1_ENST00000393560.1_Silent_p.E87E P07942 LAMB1_HUMAN laminin, beta 1 87 Laminin N-terminal. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GATTCAGGGTCTCATGATAAG 0.388000 33 77 0 0 0.183431 0 0 GP6 51206 broad.mit.edu 37 19 55526217 55526217 + Missense_Mutation SNP C C T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr19:55526217C>T ENST00000310373.3 - 8 1123 c.1096G>A c.(1096-1098)Gtg>Atg p.V366M GP6_ENST00000333884.2_3'UTR|GP6_ENST00000417454.1_3'UTR|CTC-550B14.7_ENST00000586845.1_RNA|CTC-550B14.7_ENST00000593060.1_RNA NM_001083899.1 NP_001077368.1 Q9HCN6 GPVI_HUMAN glycoprotein VI (platelet) 0 enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation integral to plasma membrane collagen binding|transmembrane receptor activity NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 BRCA - Breast invasive adenocarcinoma(297;0.156) GBM - Glioblastoma multiforme(193;0.0515) ACGCTCCACACACGCCAGTCT 0.602000 15 30 0 0 0.132662 0 0 KCNT2 343450 broad.mit.edu 37 1 196303004 196303004 + Missense_Mutation SNP G G C TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr1:196303004G>C ENST00000367433.5 - 17 2071 c.1970C>G c.(1969-1971)cCa>cGa p.P657R KCNT2_ENST00000294725.8_Missense_Mutation_p.P657R|KCNT2_ENST00000367431.4_Missense_Mutation_p.P607R|KCNT2_ENST00000451324.2_Missense_Mutation_p.P268R|KCNT2_ENST00000498426.1_5'UTR Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 657 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 TTCTTCATCTGGTGTAGTTTC 0.353000 5 24 0 0 0.014758 0 0 MYLK 4638 broad.mit.edu 37 3 123451900 123451900 + Silent SNP G G T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr3:123451900G>T ENST00000360772.3 - 12 1737 c.1359C>A c.(1357-1359)ccC>ccA p.P453P MYLK_ENST00000346322.5_Intron|MYLK_ENST00000475616.1_Silent_p.P453P|MYLK_ENST00000360304.3_Silent_p.P453P|MYLK_ENST00000359169.1_Silent_p.P453P Q15746 MYLK_HUMAN myosin light chain kinase 453 Ig-like C2-type 3. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) GTCTCCTCACGGGGGTGCCTT 0.572000 25 28 3.73808e-20 5.14489e-20 0.108266 1 0 TFDP3 51270 broad.mit.edu 37 X 132351548 132351548 + Missense_Mutation SNP A A T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chrX:132351548A>T ENST00000310125.4 - 1 828 c.740T>A c.(739-741)cTg>cAg p.L247Q NM_016521.2 NP_057605.3 Q5H9I0 TFDP3_HUMAN transcription factor Dp family, member 3 247 Involved in negatively regulating E2F activity. transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2) 19 Acute lymphoblastic leukemia(192;0.000127) TGAGTTGGGCAGCGGCCGCTG 0.478000 41 135 0 0 0.098360 0 0 AQR 9716 broad.mit.edu 37 15 35224630 35224630 + Silent SNP C C T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr15:35224630C>T ENST00000156471.5 - 11 1014 c.789G>A c.(787-789)ctG>ctA p.L263L NM_014691.2 NP_055506.1 O60306 AQR_HUMAN aquarius intron-binding spliceosomal factor 263 catalytic step 2 spliceosome RNA binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 57 Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08) all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283) TTGTGGGTAGCAGGGCCTGGG 0.418000 18 31 0 0 0.055883 0 0 S1PR1 1901 broad.mit.edu 37 1 101705535 101705535 + Missense_Mutation SNP C C A rs7549921 byFrequency TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr1:101705535C>A ENST00000305352.6 + 2 1370 c.995C>A c.(994-996)cCg>cAg p.P332Q NM_001400.4 NP_001391.2 P21453 S1PR1_HUMAN sphingosine-1-phosphate receptor 1 332 P -> R (in dbSNP:rs7549921). cell adhesion integral to membrane lysosphingolipid and lysophosphatidic acid receptor activity p.P332Q(1) NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 43 TGCAAGTGCCCGAGCGGAGAC 0.557000 68 92 1.43987e-31 2.09435e-31 0.139131 1 0 TLR4 7099 broad.mit.edu 37 9 120474751 120474751 + Missense_Mutation SNP G G T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr9:120474751G>T ENST00000355622.6 + 3 446 c.345G>T c.(343-345)caG>caT p.Q115H TLR4_ENST00000394487.4_Missense_Mutation_p.Q75H|TLR4_ENST00000472304.1_3'UTR NM_138554.4|NM_138557.2 NP_612564.1|NP_612567.1 O00206 TLR4_HUMAN toll-like receptor 4 115 activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 ACCCCATCCAGAGTTTAGCCC 0.453000 40 33 1.96642e-18 2.64949e-18 0.092188 1 0 XKR3 150165 broad.mit.edu 37 22 17280839 17280839 + Silent SNP G G A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr22:17280839G>A ENST00000331428.5 - 3 513 c.411C>T c.(409-411)agC>agT p.S137S NM_175878.3 NP_787074.2 Q5GH77 XKR3_HUMAN XK, Kell blood group complex subunit-related family, member 3 137 integral to membrane|plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) TCTTTGTGATGCTAACTTGAG 0.398000 34 115 0 0 0.064281 0 0 CACNG6 59285 broad.mit.edu 37 19 54515283 54515283 + Missense_Mutation SNP C C A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr19:54515283C>A ENST00000252729.2 + 4 1213 c.623C>A c.(622-624)cCc>cAc p.P208H CACNG6_ENST00000352529.1_Missense_Mutation_p.P137H|CACNG6_ENST00000346968.2_Missense_Mutation_p.P162H NM_145814.1 NP_665813.1 Q9BXT2 CCG6_HUMAN calcium channel, voltage-dependent, gamma subunit 6 208 voltage-gated calcium channel complex voltage-gated calcium channel activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 15 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.168) CCGGAGCCTCCCCCGGCCCCA 0.697000 37 46 1.62957e-23 2.30906e-23 0.104719 1 0 MAGI2 9863 broad.mit.edu 37 7 79082487 79082487 + Silent SNP G G T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr7:79082487G>T ENST00000354212.4 - 1 403 c.150C>A c.(148-150)ggC>ggA p.G50G MAGI2_ENST00000419488.1_Silent_p.G50G|MAGI2-AS3_ENST00000426835.1_RNA|MAGI2-AS3_ENST00000446159.1_RNA|MAGI2_ENST00000522391.1_Silent_p.G50G|MAGI2-AS3_ENST00000429408.1_RNA NM_012301.3 NP_036433.2 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 2 50 PDZ 1. cell junction|synapse|synaptosome phosphatase binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) AGGCCACCTTGCCGGGCTTCA 0.642000 31 77 4.74835e-14 6.13929e-14 0.153744 1 0 TACR3 6870 broad.mit.edu 37 4 104579544 104579544 + Missense_Mutation SNP C C T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr4:104579544C>T ENST00000304883.2 - 2 705 c.565G>A c.(565-567)Gat>Aat p.D189N NM_001059.2 NP_001050.1 P29371 NK3R_HUMAN tachykinin receptor 3 189 integral to plasma membrane tachykinin receptor activity breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 51 Hepatocellular(203;0.217) UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08) TTCAAGGGATCAATAATAGCC 0.353000 6 23 0 0 0.038147 0 0 ZNF728 388523 broad.mit.edu 37 19 23159353 23159353 + Silent SNP G G T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr19:23159353G>T ENST00000594710.1 - 4 931 c.786C>A c.(784-786)ggC>ggA p.G262G NM_001267716.1 NP_001254645.1 zinc finger protein 728 TGAAGGCTTTGCCACATTCTT 0.398000 4 28 0.00024832 0.000261246 0.150653 1 0 DACH2 117154 broad.mit.edu 37 X 85994870 85994870 + Missense_Mutation SNP C C A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chrX:85994870C>A ENST00000373131.1 + 6 1349 c.1186C>A c.(1186-1188)Cat>Aat p.H396N DACH2_ENST00000508860.1_Missense_Mutation_p.H242N|DACH2_ENST00000477378.2_3'UTR|DACH2_ENST00000373125.4_Missense_Mutation_p.H409N|DACH2_ENST00000510272.1_Missense_Mutation_p.H190N NM_001139514.1 NP_001132986.1 Q96NX9 DACH2_HUMAN dachshund homolog 2 (Drosophila) 409 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|nucleotide binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 71 GATGGATCATCATTTGGAAAG 0.443000 5 12 3.59834e-05 3.84892e-05 0.021553 1 0 PLCE1 51196 broad.mit.edu 37 10 95791541 95791541 + Silent SNP T T C TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr10:95791541T>C ENST00000260766.3 + 2 1372 c.738T>C c.(736-738)aaT>aaC p.N246N PLCE1_ENST00000371380.2_Silent_p.N246N NM_016341.3 NP_057425.3 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 246 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) ATTGTGATAATAAGAATGAGC 0.398000 21 25 0 0 0.055883 0 0 FNBP1 23048 broad.mit.edu 37 9 132658199 132658199 + Nonsense_Mutation SNP C C T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr9:132658199C>T ENST00000420781.1 - 16 1955 c.1737G>A c.(1735-1737)tgG>tgA p.W579* FNBP1_ENST00000355681.3_Nonsense_Mutation_p.W559*|FNBP1_ENST00000446176.2_Nonsense_Mutation_p.W588*|FNBP1_ENST00000443566.2_Nonsense_Mutation_p.W216* Q96RU3 FNBP1_HUMAN formin binding protein 1 588 Interaction with ARHGAP17, DAAM1, DIAPH1 and DIAPH2.|Interaction with DNM1 and DNM3.|Interaction with DNM2 and WASL.|Interaction with FASLG.|Interaction with PDE6G (By similarity).|Required for interaction with TNKS.|Required for self-association and induction of membrane tubulation.|SH3. endocytosis cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane identical protein binding|lipid binding Ovarian(14;0.000536) GBM - Glioblastoma multiforme(294;0.0378) GAATGCGGGTCCAGCCATCGC 0.413000 T MLL AML 27 32 0 0 0.108266 0 0 EXOC3 11336 broad.mit.edu 37 5 466943 466943 + Missense_Mutation SNP G G A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr5:466943G>A ENST00000512944.1 + 13 2357 c.2168G>A c.(2167-2169)aGc>aAc p.S723N CTD-2228K2.5_ENST00000510714.1_Intron|EXOC3_ENST00000315013.5_Missense_Mutation_p.S723N NM_007277.4 NP_009208.2 O60645 EXOC3_HUMAN exocyst complex component 3 734 exocytosis|protein transport breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1) 23 Ovarian(839;0.0563) Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) GCACAGGCCAGCCCCAGCTAC 0.662000 4 17 0 0 0.150653 0 0 PRKAA2 5563 broad.mit.edu 37 1 57170082 57170082 + Missense_Mutation SNP G G C TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr1:57170082G>C ENST00000371244.4 + 7 1293 c.1227G>C c.(1225-1227)caG>caC p.Q409H NM_006252.3 NP_006243.2 P54646 AAPK2_HUMAN protein kinase, AMP-activated, alpha 2 catalytic subunit 409 carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleoplasm ATP binding|metal ion binding breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1) 23 TCCGAAGTCAGAGCAAACCGT 0.408000 41 34 0 0 0.104719 0 0 ELMO1 9844 broad.mit.edu 37 7 36934481 36934481 + Missense_Mutation SNP C C T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr7:36934481C>T ENST00000310758.4 - 17 2226 c.1579G>A c.(1579-1581)Gat>Aat p.D527N ELMO1_ENST00000448602.1_Missense_Mutation_p.D527N|ELMO1_ENST00000442504.1_Missense_Mutation_p.D527N|ELMO1_ENST00000396040.2_Missense_Mutation_p.D47N|ELMO1_ENST00000341056.3_Missense_Mutation_p.D229N|ELMO1_ENST00000396045.3_Missense_Mutation_p.D47N NM_001206480.1|NM_014800.10 NP_001193409.1|NP_055615.8 Q92556 ELMO1_HUMAN engulfment and cell motility 1 527 actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 58 GACTGGAAATCTTCCTGGTTC 0.478000 16 50 0 0 0.160694 0 0 ACER1 125981 broad.mit.edu 37 19 6306747 6306747 + Missense_Mutation SNP C C T rs144461069 TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr19:6306747C>T ENST00000301452.4 - 6 850 c.773G>A c.(772-774)cGg>cAg p.R258Q NM_133492.2 NP_597999.1 Q8TDN7 ACER1_HUMAN alkaline ceramidase 1 258 endoplasmic reticulum membrane|integral to membrane ceramidase activity NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1) 15 GTCATCACCCCGGATTTCCAC 0.577000 14 61 0 0 0.132662 0 0 UBN2 254048 broad.mit.edu 37 7 138946205 138946205 + Silent SNP C C T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr7:138946205C>T ENST00000288561.8 + 6 1113 c.864C>T c.(862-864)gaC>gaT p.D288D UBN2_ENST00000473989.2_Silent_p.D371D NM_173569.3 NP_775840.3 Q6ZU65 UBN2_HUMAN ubinuclein 2 371 Lys-rich. NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 42 ACGTCCCGGACTTAAATCTGA 0.483000 25 67 0 0 0.108266 0 0 DRD5 1816 broad.mit.edu 37 4 9784028 9784028 + Silent SNP T T C rs2227841 byFrequency TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr4:9784028T>C ENST00000304374.2 + 1 771 c.375T>C c.(373-375)acT>acC p.T125T NM_000798.4 NP_000789.1 P21918 DRD5_HUMAN dopamine receptor D5 125 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1) 57 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) TGTGCTCCACTGCCTCCATCC 0.622000 4 34 0 0 0.150653 0 0 XPNPEP2 7512 broad.mit.edu 37 X 128896688 128896688 + Missense_Mutation SNP A A T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chrX:128896688A>T ENST00000371106.3 + 19 1874 c.1682A>T c.(1681-1683)gAt>gTt p.D561V NM_003399.5 NP_003390.4 O43895 XPP2_HUMAN X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound 561 cellular process|proteolysis anchored to membrane|plasma membrane aminopeptidase activity|metal ion binding|metalloexopeptidase activity endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 37 TACTATAAGGATGGAGAATTT 0.542000 19 44 0 0 0.062417 0 0 ARHGAP1 392 broad.mit.edu 37 11 46701258 46701258 + Missense_Mutation SNP G G A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr11:46701258G>A ENST00000311956.4 - 11 1064 c.967C>T c.(967-969)Cgg>Tgg p.R323W NM_004308.2 NP_004299.1 Q07960 RHG01_HUMAN Rho GTPase activating protein 1 323 Rho-GAP. Rho protein signal transduction cytosol|intracellular membrane-bounded organelle SH3 domain binding|SH3/SH2 adaptor activity endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 11 Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11) GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153) GGAAGCTCCCGGAGGAAGGTC 0.612000 15 80 0 0 0.146539 0 0 PRCP 5547 broad.mit.edu 37 11 82561547 82561547 + Splice_Site SNP C C T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr11:82561547C>T ENST00000313010.3 - 4 606 c.411_splice c.e4-1 p.D138_splice PRCP_ENST00000535099.1_Splice_Site_p.D33_splice|PRCP_ENST00000393399.2_Splice_Site_p.D159_splice NM_005040.2 NP_005031.1 P42785 PCP_HUMAN prolylcarboxypeptidase (angiotensinase C) 138 blood coagulation, intrinsic pathway|proteolysis lysosome|plasma membrane protein binding|serine-type carboxypeptidase activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1) 17 TGTCTGGAATCCTAAAGAAAT 0.393000 21 53 0 0 0.055883 0 0 ABCA13 154664 broad.mit.edu 37 7 48314857 48314857 + Missense_Mutation SNP C C G TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr7:48314857C>G ENST00000435803.1 + 17 5618 c.5594C>G c.(5593-5595)tCt>tGt p.S1865C NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 1865 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 TTCCACCTGTCTCCCCAAGGT 0.423000 28 24 0 0 0.116897 0 0 LYST 1130 broad.mit.edu 37 1 235850334 235850334 + Missense_Mutation SNP G G A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr1:235850334G>A ENST00000389794.3 - 48 10889 c.10715C>T c.(10714-10716)gCt>gTt p.A3572V LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.A3572V Q99698 LYST_HUMAN lysosomal trafficking regulator 3572 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) AGGCACCCAAGCACAACTAGT 0.363000 4 92 0 0 0.150653 0 0 FANCD2 2177 broad.mit.edu 37 3 10083359 10083359 + Missense_Mutation SNP T T A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr3:10083359T>A ENST00000287647.3 + 10 841 c.748T>A c.(748-750)Tca>Aca p.S250T FANCD2_ENST00000383807.1_Missense_Mutation_p.S250T|FANCD2_ENST00000383806.1_Missense_Mutation_p.S250T|FANCD2_ENST00000419585.1_Missense_Mutation_p.S250T NM_033084.3 NP_149075.2 Q9BXW9 FACD2_HUMAN Fanconi anemia, complementation group D2 250 Interaction with BRCA2.|Interaction with FANCE. DNA repair|response to gamma radiation nucleoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 51 OV - Ovarian serous cystadenocarcinoma(96;0.148) GGATGTCCTTTCAAGCCTCCG 0.428000 """D, Mis, N, F""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 34 36 0 0 0.064281 0 0 PIK3CA 5290 broad.mit.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A rs121913273 TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr3:178936082G>A ENST00000263967.3 + 10 1781 c.1624G>A c.(1624-1626)Gaa>Aaa p.E542K NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 542 PI3K helical. E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E542K(545)|p.E542Q(10) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TCCTCTCTCTGAAATCACTGA 0.333000 E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 29 27 0 0 0.153744 0 0 SLC22A11 55867 broad.mit.edu 37 11 64329824 64329824 + Silent SNP C C T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr11:64329824C>T ENST00000301891.4 + 4 1112 c.738C>T c.(736-738)ggC>ggT p.G246G SLC22A11_ENST00000490834.1_3'UTR|SLC22A11_ENST00000377585.3_Silent_p.G246G|SLC22A11_ENST00000377581.3_Silent_p.G246G NM_018484.2 NP_060954.1 Q9NSA0 S22AB_HUMAN solute carrier family 22 (organic anion/urate transporter), member 11 246 urate metabolic process apical plasma membrane|external side of plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 23 Probenecid(DB01032) CGGCGCTGGGCGGCCTGGCCT 0.632000 17 99 0 0 0.175082 0 0 SLC17A9 63910 broad.mit.edu 37 20 61594048 61594048 + Silent SNP C C T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr20:61594048C>T ENST00000370349.3 + 6 756 c.552C>T c.(550-552)tcC>tcT p.S184S SLC17A9_ENST00000488738.1_3'UTR|SLC17A9_ENST00000370351.4_Silent_p.S190S Q9BYT1 S17A9_HUMAN solute carrier family 17 (vesicular nucleotide transporter), member 9 190 exocytosis|transmembrane transport integral to membrane transporter activity endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 23 TCTATTTCTCCGGCGGCCTCA 0.637000 44 83 0 0 0.139131 0 0 SLC18A3 6572 broad.mit.edu 37 10 50820091 50820091 + Silent SNP G G A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr10:50820091G>A ENST00000374115.3 + 1 1745 c.1305G>A c.(1303-1305)ggG>ggA p.G435G CHAT_ENST00000339797.1_Intron NM_003055.2 NP_003046.2 Q16572 VACHT_HUMAN solute carrier family 18 (vesicular acetylcholine transporter), member 3 435 neurotransmitter secretion clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction acetylcholine transmembrane transporter activity endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 43 ACGCGCTCGGGCCCATAGTGG 0.627000 10 18 0 0 0.132662 0 0 SPRED1 161742 broad.mit.edu 37 15 38643248 38643248 + Nonsense_Mutation SNP C C T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr15:38643248C>T ENST00000299084.4 + 7 1578 c.718C>T c.(718-720)Caa>Taa p.Q240* NM_152594.2 NP_689807.1 Q7Z699 SPRE1_HUMAN sprouty-related, EVH1 domain containing 1 240 KBD. inactivation of MAPK activity|multicellular organismal development caveola|nucleus stem cell factor receptor binding kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244) TGTCAGCTTTCAAGATGAGGA 0.388000 Legius syndrome 3 21 0 0 0.150653 0 0 CDH7 1005 broad.mit.edu 37 18 63511088 63511088 + Missense_Mutation SNP T T C TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr18:63511088T>C ENST00000536984.2 + 7 1716 c.1022T>C c.(1021-1023)aTa>aCa p.I341T CDH7_ENST00000323011.3_Missense_Mutation_p.I341T|CDH7_ENST00000397968.2_Missense_Mutation_p.I341T Q9ULB5 CADH7_HUMAN cadherin 7, type 2 341 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 80 Esophageal squamous(42;0.129) ACGCTACGGATAGAAGCTGCA 0.443000 24 49 0 0 0.083992 0 0 THOC2 57187 broad.mit.edu 37 X 122866840 122866840 + Missense_Mutation SNP C C A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chrX:122866840C>A ENST00000245838.8 - 1 64 c.33G>T c.(31-33)gaG>gaT p.E11D THOC2_ENST00000355725.4_Missense_Mutation_p.E11D NM_001081550.1 NP_001075019.1 Q8NI27 THOC2_HUMAN THO complex 2 11 intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex protein binding|RNA binding breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3) 63 TCTTTATCCACTCTGCGGGAA 0.637000 OREG0003978|OREG0003979 type=REGULATORY REGION|Gene=BC041435|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|Gene=THOC2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 18 54 5.03518e-11 6.21708e-11 0.043863 1 0 OR6K3 391114 broad.mit.edu 37 1 158687951 158687951 + Translation_Start_Site SNP C C G TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr1:158687951C>G ENST00000368146.1 - 1 2 c.3G>C c.(1-3)atG>atC p.M1I Q8NGY3 OR6K3_HUMAN olfactory receptor, family 6, subfamily K, member 3 1 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1) 41 all_hematologic(112;0.0378) TAGTCCAGCACATGAGAGGGT 0.373000 16 33 0 0 0.160694 0 0 PDHA2 5161 broad.mit.edu 37 4 96761669 96761669 + Missense_Mutation SNP A A G TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr4:96761669A>G ENST00000295266.4 + 1 431 c.368A>G c.(367-369)tAt>tGt p.Y123C NM_005390.4 NP_005381.1 P29803 ODPAT_HUMAN pyruvate dehydrogenase (lipoamide) alpha 2 123 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 46 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) GGTGTGTGCTATACTCGGGGA 0.522000 13 39 0 0 0.105934 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971137 21971137 + Missense_Mutation SNP T T A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr9:21971137T>A ENST00000304494.5 - 2 491 c.221A>T c.(220-222)gAc>gTc p.D74V CDKN2A_ENST00000498124.1_Missense_Mutation_p.D74V|CDKN2A_ENST00000498628.2_Missense_Mutation_p.D23V|CDKN2A_ENST00000530628.2_Silent_p.R88R|CDKN2A_ENST00000497750.1_Missense_Mutation_p.D23V|CDKN2A_ENST00000578845.2_Missense_Mutation_p.D23V|CDKN2A_ENST00000494262.1_Missense_Mutation_p.D23V|CDKN2A_ENST00000579755.1_Silent_p.R88R|CDKN2A_ENST00000361570.3_Silent_p.R129R|CDKN2A_ENST00000479692.2_Missense_Mutation_p.D23V|CDKN2A_ENST00000446177.1_Missense_Mutation_p.D74V|CDKN2A_ENST00000579122.1_Missense_Mutation_p.D74V|RP11-145E5.5_ENST00000404796.2_Intron NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 74 D -> N (in a bladder tumor).|D -> V (in a biliary tract tumor).|D -> Y (in CMM2; loss of CDK4 binding). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(44)|p.D74V(2)|p.E61_L94del(1)|p.0(1)|p.V59fs*45(1)|p.L65fs*38(1)|p.A68fs*3(1)|p.C72fs*71(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) AGTGGCGGGGTCGGCGCAGTT 0.711000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 7 5 0 0 0.038147 0 0 NOTCH2 4853 broad.mit.edu 37 1 120508124 120508124 + Missense_Mutation SNP C C T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr1:120508124C>T ENST00000256646.2 - 10 1852 c.1633G>A c.(1633-1635)Gca>Aca p.A545T NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 545 EGF-like 14; calcium-binding (Potential). anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) ATACACTTTGCCCCATTCAGA 0.448000 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 4 194 0 0 0.150653 0 0 SELP 6403 broad.mit.edu 37 1 169572441 169572441 + Missense_Mutation SNP A A G TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr1:169572441A>G ENST00000263686.6 - 10 1565 c.1528T>C c.(1528-1530)Tgc>Cgc p.C510R SELP_ENST00000367792.2_Intron|SELP_ENST00000367793.2_Missense_Mutation_p.C448R|SELP_ENST00000367794.2_Missense_Mutation_p.C448R|SELP_ENST00000367791.2_Missense_Mutation_p.C386R|SELP_ENST00000367788.2_Missense_Mutation_p.C448R|SELP_ENST00000458599.2_Intron|SELP_ENST00000367786.2_Missense_Mutation_p.C448R NM_003005.3 NP_002996.2 P16109 LYAM3_HUMAN selectin P (granule membrane protein 140kDa, antigen CD62) 510 Sushi 6. platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) AAAGGTGTGCAGGGAATGGCT 0.443000 17 62 0 0 0.049695 0 0 DKC1 1736 broad.mit.edu 37 X 153994589 153994589 + Missense_Mutation SNP G G T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chrX:153994589G>T ENST00000369550.5 + 5 572 c.362G>T c.(361-363)aGt>aTt p.S121I NM_001142463.1|NM_001363.3 NP_001135935.1|NP_001354.1 O60832 DKC1_HUMAN dyskeratosis congenita 1, dyskerin 121 S -> G (in HHS; dbSNP:rs121912305). cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase Cajal body|nucleolus|telomerase holoenzyme complex protein binding|pseudouridine synthase activity|RNA binding|telomerase activity breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1) 15 all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) ACAGGGCACAGTGGTACGCTG 0.522000 Congenital Dyskeratosis 24 58 7.87624e-14 1.01493e-13 0.076483 1 0 KIAA1109 84162 broad.mit.edu 37 4 123107289 123107289 + Missense_Mutation SNP G G T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr4:123107289G>T ENST00000264501.4 + 7 830 c.457G>T c.(457-459)Ggt>Tgt p.G153C KIAA1109_ENST00000455637.1_Missense_Mutation_p.G153C|KIAA1109_ENST00000388738.3_Missense_Mutation_p.G153C Q2LD37 K1109_HUMAN KIAA1109 153 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 AGAGTTGTTTGGTTTGGAGCC 0.378000 16 26 3.41278e-10 4.14718e-10 0.160694 1 0 DCAF4L2 138009 broad.mit.edu 37 8 88886082 88886082 + Missense_Mutation SNP C C A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr8:88886082C>A ENST00000319675.3 - 1 214 c.118G>T c.(118-120)Gcc>Tcc p.A40S NM_152418.3 NP_689631.1 Q8NA75 DC4L2_HUMAN DDB1 and CUL4 associated factor 4-like 2 40 breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 CAATAGTTGGCGAATCTGAGG 0.522000 29 45 2.14196e-07 2.42629e-07 0.125774 1 0 GPR112 139378 broad.mit.edu 37 X 135453552 135453552 + Missense_Mutation SNP G G C TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chrX:135453552G>C ENST00000394143.1 + 14 7753 c.7462G>C c.(7462-7464)Gaa>Caa p.E2488Q GPR112_ENST00000370652.1_Missense_Mutation_p.E2488Q|GPR112_ENST00000287534.4_Missense_Mutation_p.E2286Q|GPR112_ENST00000412101.1_Missense_Mutation_p.E2283Q|GPR112_ENST00000394141.1_Missense_Mutation_p.E2283Q NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 2488 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) CCTGGGTAAAGAAGAGACAAA 0.338000 12 32 0 0 0.093190 0 0 TAF3 83860 broad.mit.edu 37 10 8006137 8006137 + Nonsense_Mutation SNP C C T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr10:8006137C>T ENST00000344293.5 + 3 870 c.664C>T c.(664-666)Caa>Taa p.Q222* NM_031923.3 NP_114129.1 Q5VWG9 TAF3_HUMAN TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa 222 maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription factor TFIID complex protein binding|zinc ion binding NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2) 40 AATAAATACTCAAAAGATCCC 0.507000 27 46 0 0 0.134883 0 0 ARHGAP33 115703 broad.mit.edu 37 19 36278998 36278998 + Missense_Mutation SNP G G T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr19:36278998G>T ENST00000007510.4 + 21 3675 c.3531G>T c.(3529-3531)agG>agT p.R1177S ARHGAP33_ENST00000378944.5_Missense_Mutation_p.R1013S|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.R1016S O14559 RHG33_HUMAN Rho GTPase activating protein 33 1177 cell communication|protein transport|signal transduction intracellular GTPase activator activity|phosphatidylinositol binding|protein binding endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 37 TAGGGCCCAGGGGTCCCTCAC 0.672000 42 47 6.2361e-21 8.645e-21 0.098360 1 0 IGKV3-15 28913 broad.mit.edu 37 2 89384800 89384800 + RNA SNP G G T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr2:89384800G>T ENST00000390252.2 - 0 314 AGTGGCCCTGGTGGATGCACC 0.562000 28 54 1.30897e-18 1.77613e-18 0.144211 1 0 ATP7B 540 broad.mit.edu 37 13 52549007 52549007 + Missense_Mutation SNP C C T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr13:52549007C>T ENST00000242839.4 - 2 505 c.349G>A c.(349-351)Ggg>Agg p.G117R ATP7B_ENST00000400370.3_Missense_Mutation_p.G117R|ATP7B_ENST00000542656.1_Missense_Mutation_p.G85R|ATP7B_ENST00000400366.3_Missense_Mutation_p.G117R|ATP7B_ENST00000418097.2_Missense_Mutation_p.G117R|ATP7B_ENST00000448424.2_Missense_Mutation_p.G117R|ATP7B_ENST00000344297.5_Missense_Mutation_p.G117R NM_000053.3 NP_000044.2 P35670 ATP7B_HUMAN ATPase, Cu++ transporting, beta polypeptide 117 HMA 1. ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2) 55 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) CCCATGTCCCCAATTTGATGG 0.562000 Wilson disease 32 50 0 0 0.163468 0 0 LHX1 3975 broad.mit.edu 37 17 35297814 35297814 + Splice_Site SNP G G C TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr17:35297814G>C ENST00000254457.5 + 2 1808 c.e2+1 RP11-445F12.2_ENST00000607336.1_RNA NM_005568.3 NP_005559.2 P48742 LHX1_HUMAN LIM homeobox 1 cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development nucleus|protein complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 Breast(25;0.00607) CTTCACTCGGGTGAGGCCCCA 0.562000 5 22 0 0 0.029380 0 0 ASZ1 136991 broad.mit.edu 37 7 117024803 117024803 + Missense_Mutation SNP C C A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr7:117024803C>A ENST00000284629.2 - 6 726 c.664G>T c.(664-666)Gca>Tca p.A222S NM_130768.2 NP_570124.1 Q8WWH4 ASZ1_HUMAN ankyrin repeat, SAM and basic leucine zipper domain containing 1 222 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body signal transducer activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1) 24 Lung NSC(10;0.00156)|all_lung(10;0.00175) STAD - Stomach adenocarcinoma(10;0.000512) TTTCTTTTTGCAATCTCACTT 0.333000 28 70 2.08457e-15 2.73199e-15 0.153744 1 0 FSCB 84075 broad.mit.edu 37 14 44975557 44975557 + Missense_Mutation SNP T T A rs140155770 TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr14:44975557T>A ENST00000340446.4 - 1 925 c.634A>T c.(634-636)Aat>Tat p.N212Y NM_032135.3 NP_115511.3 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 212 cilium breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 89 GBM - Glioblastoma multiforme(112;0.128) CTGCTGATATTTTTCTGCCCA 0.403000 34 100 0 0 0.064281 0 0 UBN2 254048 broad.mit.edu 37 7 138946371 138946371 + Missense_Mutation SNP G G C TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr7:138946371G>C ENST00000288561.8 + 6 1279 c.1030G>C c.(1030-1032)Gaa>Caa p.E344Q UBN2_ENST00000473989.2_Missense_Mutation_p.E427Q NM_173569.3 NP_775840.3 Q6ZU65 UBN2_HUMAN ubinuclein 2 427 Lys-rich. NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 42 GTCGGGGGGTGAAAATGGAAC 0.483000 12 70 0 0 0.119110 0 0 ADAM28 10863 broad.mit.edu 37 8 24168892 24168892 + Nonsense_Mutation SNP G G T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr8:24168892G>T ENST00000265769.4 + 5 435 c.325G>T c.(325-327)Gga>Tga p.G109* ADAM28_ENST00000540823.1_5'UTR|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000437154.2_Nonsense_Mutation_p.G109*|ADAM28_ENST00000397649.3_5'UTR|RP11-624C23.1_ENST00000523700.1_RNA NM_014265.4 NP_055080.2 Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 109 proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) TTATTATCAAGGACATATTCT 0.388000 9 30 0.000274275 0.0002862 0.047766 1 0 DACH2 117154 broad.mit.edu 37 X 85404039 85404039 + Missense_Mutation SNP C C G TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chrX:85404039C>G ENST00000373131.1 + 1 578 c.415C>G c.(415-417)Ccc>Gcc p.P139A DACH2_ENST00000373125.4_Missense_Mutation_p.P139A NM_001139514.1 NP_001132986.1 Q96NX9 DACH2_HUMAN dachshund homolog 2 (Drosophila) 139 DACHbox-N. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|nucleotide binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 71 GGCCATCCAGCCCGGGGTAAA 0.557000 13 47 0 0 0.146539 0 0 THEG 51298 broad.mit.edu 37 19 371226 371226 + Missense_Mutation SNP G G C TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr19:371226G>C ENST00000342640.4 - 6 774 c.732C>G c.(730-732)ttC>ttG p.F244L THEG_ENST00000346878.2_Missense_Mutation_p.F220L NM_016585.4 NP_057669.1 Q9P2T0 THEG_HUMAN theg spermatid protein 244 cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis nucleus protein binding NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1) 29 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCATGCTCCAGAAGTTATCAC 0.642000 52 189 0 0 0.139131 0 0 KLHL13 90293 broad.mit.edu 37 X 117079426 117079426 + Missense_Mutation SNP T T C TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chrX:117079426T>C ENST00000371876.1 - 1 2479 c.58A>G c.(58-60)Agc>Ggc p.S20G KLHL13_ENST00000371882.1_Missense_Mutation_p.S20G|KLHL13_ENST00000545703.1_Missense_Mutation_p.S29G|KLHL13_ENST00000469946.1_Missense_Mutation_p.S20G|KLHL13_ENST00000371878.1_Missense_Mutation_p.S20G|KLHL13_ENST00000540167.1_Missense_Mutation_p.S55G|KLHL13_ENST00000262820.3_Missense_Mutation_p.S71G|KLHL13_ENST00000541812.1_Missense_Mutation_p.S55G|KLHL13_ENST00000539496.1_Missense_Mutation_p.S74G Q9P2N7 KLH13_HUMAN kelch-like family member 13 71 L -> P (in Ref. 3; BAG54189). cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 TGGGTATTGCTGGTAAAGATG 0.458000 24 64 0 0 0.099896 0 0 CHD1 1105 broad.mit.edu 37 5 98193970 98193970 + Missense_Mutation SNP T T A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr5:98193970T>A ENST00000284049.3 - 34 4850 c.4701A>T c.(4699-4701)aaA>aaT p.K1567N NM_001270.2 NP_001261.2 O14646 CHD1_HUMAN chromodomain helicase DNA binding protein 1 1567 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 49 all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0717) Epirubicin(DB00445) AATCACTTTTTTTGTAAGAAT 0.403000 60 76 0 0 0.139131 0 0 LILRP2 79166 broad.mit.edu 37 19 55220579 55220579 + RNA SNP G G T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr19:55220579G>T ENST00000413439.1 + 0 717 TCCCATCCATGAGAGAGCACC 0.567000 14 13 2.32078e-09 2.75908e-09 0.132662 1 0 UTP14A 10813 broad.mit.edu 37 X 129053151 129053151 + Splice_Site SNP G G T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chrX:129053151G>T ENST00000394422.3 + 7 566 c.537_splice c.e7-1 p.A180_splice RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000371051.5_Splice_Site_p.A126_splice|UTP14A_ENST00000425117.2_Splice_Site_p.A128_splice|UTP14A_ENST00000371042.3_Splice_Site_p.A12_splice NM_006649.3 NP_006640.2 Q9BVJ6 UT14A_HUMAN UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast) 180 rRNA processing nucleolus|small-subunit processome protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1) 32 CTTCTTTAAGGCAAGAACTCC 0.433000 29 79 3.69857e-22 5.18339e-22 0.134883 1 0 P4HA1 5033 broad.mit.edu 37 10 74813238 74813238 + Missense_Mutation SNP T T A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr10:74813238T>A ENST00000412021.2 - 7 907 c.574A>T c.(574-576)Agg>Tgg p.R192W P4HA1_ENST00000373008.2_Missense_Mutation_p.R192W|P4HA1_ENST00000263556.3_Missense_Mutation_p.R192W|P4HA1_ENST00000307116.2_Missense_Mutation_p.R192W|P4HA1_ENST00000394890.2_Missense_Mutation_p.R192W|P4HA1_ENST00000440381.1_Missense_Mutation_p.R192W NM_001142595.1 NP_001136067.1 P13674 P4HA1_HUMAN prolyl 4-hydroxylase, alpha polypeptide I 192 endoplasmic reticulum lumen|mitochondrion iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1) 15 Prostate(51;0.0198) Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) TCCAGTTGCCTTAGGGCTTGT 0.443000 37 90 0 0 0.098360 0 0 DRP2 1821 broad.mit.edu 37 X 100486665 100486665 + Missense_Mutation SNP C C T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chrX:100486665C>T ENST00000395209.3 + 3 556 c.29C>T c.(28-30)cCt>cTt p.P10L DRP2_ENST00000538510.1_Missense_Mutation_p.P10L|DRP2_ENST00000541709.1_Intron|DRP2_ENST00000402866.1_Missense_Mutation_p.P10L NM_001939.2 NP_001930.2 Q13474 DRP2_HUMAN dystrophin related protein 2 10 central nervous system development cytoplasm|cytoskeleton zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2) 31 CAGGGATGCCCTTACACCCTC 0.537000 50 125 0 0 0.139131 0 0 NYNRIN 57523 broad.mit.edu 37 14 24884560 24884560 + Missense_Mutation SNP C C G TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr14:24884560C>G ENST00000382554.3 + 9 3923 c.3605C>G c.(3604-3606)cCc>cGc p.P1202R NM_025081.2 NP_079357.2 Q9P2P1 NYNRI_HUMAN NYN domain and retroviral integrase containing 1202 DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 AGCCAGGGCCCCCAGTCAGGG 0.622000 33 146 0 0 0.069456 0 0 FAM46D 169966 broad.mit.edu 37 X 79698469 79698469 + Missense_Mutation SNP G G T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chrX:79698469G>T ENST00000538312.1 + 5 765 c.431G>T c.(430-432)tGg>tTg p.W144L FAM46D_ENST00000308293.5_Missense_Mutation_p.W144L NM_001170574.1 NP_001164045.1 Q8NEK8 FA46D_HUMAN family with sequence similarity 46, member D 144 kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23 CATGATTGTTGGAGTCTTATC 0.368000 48 100 2.6238e-40 3.8603e-40 0.139131 1 0 C8B 732 broad.mit.edu 37 1 57399015 57399015 + Silent SNP G G A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr1:57399015G>A ENST00000543257.1 - 11 1955 c.1389C>T c.(1387-1389)gtC>gtT p.V463V C8B_ENST00000371237.4_Silent_p.V515V|C8B_ENST00000535057.1_Silent_p.V453V NM_001278543.1 NP_001265472.1 P07358 CO8B_HUMAN complement component 8, beta polypeptide 515 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis membrane attack complex breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 52 TACCTTTCAGGACAGGGACTC 0.552000 17 30 0 0 0.049695 0 0 CENPE 1062 broad.mit.edu 37 4 104060953 104060953 + Missense_Mutation SNP A A T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr4:104060953A>T ENST00000265148.3 - 38 6286 c.6197T>A c.(6196-6198)aTa>aAa p.I2066K CENPE_ENST00000380026.3_Intron NM_001813.2 NP_001804.2 Q02224 CENPE_HUMAN centromere protein E, 312kDa 2066 blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3) 101 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) CACTCTAGCTATCATTTCCCT 0.313000 25 29 0 0 0.108266 0 0 AOC4P 90586 broad.mit.edu 37 17 41019561 41019561 + RNA SNP A A G rs28691051 TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr17:41019561A>G ENST00000585538.1 + 0 400 NR_002773.1 GCCCAGGCCCAGCCCTCGGAC 0.662000 13 194 0 0 0.076483 0 0 SELP 6403 broad.mit.edu 37 1 169586578 169586578 + Missense_Mutation SNP G G C TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr1:169586578G>C ENST00000263686.6 - 3 206 c.169C>G c.(169-171)Cgt>Ggt p.R57G SELP_ENST00000367792.2_Missense_Mutation_p.R57G|SELP_ENST00000367793.2_Missense_Mutation_p.R57G|SELP_ENST00000367794.2_Missense_Mutation_p.R57G|SELP_ENST00000367791.2_Missense_Mutation_p.R57G|SELP_ENST00000367788.2_Missense_Mutation_p.R57G|SELP_ENST00000458599.2_Missense_Mutation_p.R57G|SELP_ENST00000367786.2_Missense_Mutation_p.R57G NM_003005.3 NP_002996.2 P16109 LYAM3_HUMAN selectin P (granule membrane protein 140kDa, antigen CD62) 57 platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) CAGTATTTACGGGAAATATTC 0.408000 46 104 0 0 0.139131 0 0 FAM120AOS 158293 broad.mit.edu 37 9 96209968 96209968 + Silent SNP G G A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr9:96209968G>A ENST00000375412.5 - 3 1578 c.696C>T c.(694-696)agC>agT p.S232S FAM120AOS_ENST00000423591.1_Silent_p.S50S|FAM120AOS_ENST00000479094.1_5'UTR NM_198841.2 NP_942138.2 Q5T036 F120S_HUMAN family with sequence similarity 120A opposite strand 232 kidney(1)|large_intestine(1)|lung(3)|skin(1) 6 TGACAGAACAGCTTCTGGAAA 0.333000 14 99 0 0 0.105934 0 0 SAMD7 344658 broad.mit.edu 37 3 169639092 169639092 + Silent SNP T T C TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr3:169639092T>C ENST00000428432.2 + 4 566 c.177T>C c.(175-177)aaT>aaC p.N59N SAMD7_ENST00000335556.3_Silent_p.N59N NM_182610.2 NP_872416.1 Q7Z3H4 SAMD7_HUMAN sterile alpha motif domain containing 7 59 NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106) CAAACACAAATATGGCAAATG 0.438000 29 124 0 0 0.144211 0 0 MED12L 116931 broad.mit.edu 37 3 151082978 151082978 + Missense_Mutation SNP C C T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr3:151082978C>T ENST00000474524.1 + 20 3102 c.3064C>T c.(3064-3066)Cat>Tat p.H1022Y MED12L_ENST00000273432.4_Missense_Mutation_p.H882Y|P2RY12_ENST00000302632.3_Intron NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 1022 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) ATGTATGGGCCATCAGGATGC 0.463000 79 126 0 0 0.139131 0 0 MRC1 4360 broad.mit.edu 37 10 17891588 17891588 + Missense_Mutation SNP G G T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr10:17891588G>T ENST00000331429.2 + 7 1172 c.1069G>T c.(1069-1071)Gat>Tat p.D357Y MRC1L1_ENST00000457317.1_Missense_Mutation_p.D357Y breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 TCTAGAAAGTGATGTGCCTAC 0.363000 18 54 5.3912e-06 5.91492e-06 0.175082 1 0 ALKBH3 221120 broad.mit.edu 37 11 43941467 43941467 + Splice_Site SNP G G A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr11:43941467G>A ENST00000302708.4 + 10 1179 c.e10-1 ALKBH3-AS1_ENST00000528285.1_RNA|ALKBH3-AS1_ENST00000527960.1_RNA|ALKBH3-AS1_ENST00000499194.1_RNA|ALKBH3-AS1_ENST00000534287.1_RNA|ALKBH3_ENST00000532410.1_Splice_Site NM_139178.3 NP_631917.1 Q96Q83 ALKB3_HUMAN alkB, alkylation repair homolog 3 (E. coli) DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation mitochondrion|nucleoplasm damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen endometrium(2)|kidney(1)|lung(4)|prostate(1) 8 Vitamin C(DB00126) TTTCCATTTAGCATCGAGTGC 0.423000 Direct reversal of damage 12 75 0 0 0.093190 0 0 TTN 7273 broad.mit.edu 37 2 179482708 179482708 + Silent SNP G G T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr2:179482708G>T ENST00000589042.1 - 253 47594 c.47370C>A c.(47368-47370)atC>atA p.I15790I TTN_ENST00000460472.2_Silent_p.I6725I|TTN_ENST00000342992.6_Silent_p.I13222I|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Silent_p.I6917I|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Silent_p.I14149I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Silent_p.I6850I|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 14149 Fibronectin type-III 14. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CGTAGTTTGTGATCTCAGCAC 0.458000 24 74 2.79863e-10 3.41167e-10 0.099896 1 0 FOXN2 3344 broad.mit.edu 37 2 48600434 48600434 + Missense_Mutation SNP C C A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr2:48600434C>A ENST00000340553.3 + 6 968 c.707C>A c.(706-708)tCt>tAt p.S236Y NM_002158.3 NP_002149.2 P32314 FOXN2_HUMAN forkhead box N2 236 embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 13 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036) TTTTCAGAATCTGATATTGAT 0.289000 24 55 5.61819e-17 7.51702e-17 0.108266 1 0 MUC5B 727897 broad.mit.edu 37 11 1271213 1271213 + Missense_Mutation SNP C C T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr11:1271213C>T ENST00000447027.1 + 31 13170 c.13112C>T c.(13111-13113)aCg>aTg p.T4371M MUC5B_ENST00000529681.1_Missense_Mutation_p.T4368M Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 4368 23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GTGCTGACCACGAAGGCCACC 0.642000 10 78 0 0 0.080935 0 0 SASH1 23328 broad.mit.edu 37 6 148869664 148869664 + Silent SNP C C T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr6:148869664C>T ENST00000367467.3 + 20 4189 c.3714C>T c.(3712-3714)ttC>ttT p.F1238F NM_015278.3 NP_056093.3 O94885 SASH1_HUMAN SAM and SH3 domain containing 1 1238 SAM 2. protein binding breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Ovarian(120;0.0169) OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701) CCAGACTCTTCAAACTGCCGC 0.557000 26 79 0 0 0.108266 0 0 OR6X1 390260 broad.mit.edu 37 11 123625128 123625128 + Silent SNP G G A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr11:123625128G>A ENST00000327930.2 - 1 125 c.99C>T c.(97-99)taC>taT p.Y33Y NM_001005188.1 NP_001005188.1 Q8NH79 OR6X1_HUMAN olfactory receptor, family 6, subfamily X, member 1 33 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2) 23 Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) GGGTTAATATGTAGGTGAGAA 0.423000 13 94 0 0 0.093190 0 0 PIR 8544 broad.mit.edu 37 X 15497928 15497928 + Missense_Mutation SNP G G T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chrX:15497928G>T ENST00000380421.3 - 3 573 c.113C>A c.(112-114)cCg>cAg p.P38Q PIR_ENST00000476381.1_5'UTR|BMX_ENST00000357607.2_Intron|PIR_ENST00000380420.5_Missense_Mutation_p.P38Q NM_001018109.2|NM_003662.3 NP_001018119.1|NP_003653.1 O00625 PIR_HUMAN pirin (iron-binding nuclear protein) 38 transcription from RNA polymerase II promoter cytoplasm|nucleus metal ion binding|protein binding|quercetin 2,3-dioxygenase activity|transcription cofactor activity endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 9 Hepatocellular(33;0.183) CAGTAAAAACGGATCCAGATT 0.343000 9 35 7.48243e-07 8.35248e-07 0.058154 1 0 KRT18 3875 broad.mit.edu 37 12 53343350 53343350 + Silent SNP G G A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr12:53343350G>A ENST00000550600.1 + 2 447 c.393G>A c.(391-393)aaG>aaA p.K131K KRT18_ENST00000388835.3_Silent_p.K131K|KRT8_ENST00000549198.1_5'UTR|KRT8_ENST00000552551.1_5'UTR|KRT8_ENST00000546897.1_Intron|KRT18_ENST00000388837.2_Silent_p.K131K P05783 K1C18_HUMAN keratin 18 131 Linker 1.|Necessary for interaction with PNN.|Rod. anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis centriolar satellite|keratin filament|perinuclear region of cytoplasm protein binding|structural molecule activity central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1) 11 ATTACTTCAAGATCATCGAGG 0.557000 9 29 0 0 0.093190 0 0 SHOC2 8036 broad.mit.edu 37 10 112724466 112724466 + Nonsense_Mutation SNP C C G TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr10:112724466C>G ENST00000369452.4 + 2 695 c.350C>G c.(349-351)tCa>tGa p.S117* SHOC2_ENST00000489390.1_Intron|SHOC2_ENST00000265277.5_Nonsense_Mutation_p.S117* NM_007373.3 NP_031399.2 Q9UQ13 SHOC2_HUMAN soc-2 suppressor of clear homolog (C. elegans) 117 fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction nucleus|protein phosphatase type 1 complex protein phosphatase binding|protein phosphatase regulator activity breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2) 17 Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126) ATATTGCCATCATCAATCAAA 0.383000 27 47 0 0 0.099896 0 0 KCNB2 9312 broad.mit.edu 37 8 73848928 73848928 + Silent SNP C C T rs141965461 TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr8:73848928C>T ENST00000523207.1 + 3 1926 c.1338C>T c.(1336-1338)aaC>aaT p.N446N NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 446 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) CCAAAAGGAACGGAAGCATCG 0.453000 36 82 0 0 0.086207 0 0 TPO 7173 broad.mit.edu 37 2 1440052 1440052 + Silent SNP C C A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr2:1440052C>A ENST00000345913.4 + 5 469 c.378C>A c.(376-378)atC>atA p.I126I TPO_ENST00000382201.3_Silent_p.I126I|TPO_ENST00000382269.3_Silent_p.I126I|TPO_ENST00000349624.3_Silent_p.I126I|TPO_ENST00000337415.3_Silent_p.I126I|TPO_ENST00000539820.1_Silent_p.I126I|TPO_ENST00000329066.4_Silent_p.I126I|TPO_ENST00000497517.2_Intron|TPO_ENST00000346956.3_Silent_p.I126I|TPO_ENST00000382198.1_Silent_p.I126I NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 126 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) TGCTGAGCATCATTGCAAACA 0.433000 29 60 1.16021e-09 1.3836e-09 0.125774 1 0 MYOCD 93649 broad.mit.edu 37 17 12618891 12618891 + Splice_Site SNP G G A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr17:12618891G>A ENST00000425538.1 + 3 377 c.177_splice c.e3+1 p.K59_splice MYOCD_ENST00000343344.4_Splice_Site_p.K59_splice NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 59 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) ATAGTGACAAGGTAATTTTTG 0.408000 12 46 0 0 0.093190 0 0 SERPINA4 5267 broad.mit.edu 37 14 95030105 95030105 + Missense_Mutation SNP C C A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr14:95030105C>A ENST00000557004.1 + 2 707 c.286C>A c.(286-288)Cac>Aac p.H96N SERPINA4_ENST00000555095.1_Missense_Mutation_p.H96N|SERPINA4_ENST00000298841.5_Missense_Mutation_p.H96N|SERPINA5_ENST00000553780.1_Intron P29622 KAIN_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 96 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1) 46 COAD - Colon adenocarcinoma(157;0.211) GGCCTGCTCACACAGCCGCAG 0.607000 15 37 9.16793e-09 1.06681e-08 0.160694 1 0 ATP8B2 57198 broad.mit.edu 37 1 154318808 154318808 + Missense_Mutation SNP G G C TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr1:154318808G>C ENST00000368489.3 + 25 2979 c.2979G>C c.(2977-2979)caG>caC p.Q993H NM_020452.3 NP_065185.1 P98198 AT8B2_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 2 979 ATP biosynthetic process plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity IL6R/ATP8B2(2) breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) GCATCGCCCAGGGCATCTACA 0.562000 22 52 0 0 0.091800 0 0 ERBB4 2066 broad.mit.edu 37 2 212522687 212522687 + Missense_Mutation SNP C C A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr2:212522687C>A ENST00000402597.1 - 16 1903 c.1904G>T c.(1903-1905)gGc>gTc p.G635V ERBB4_ENST00000436443.1_Intron|ERBB4_ENST00000342788.4_Intron Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 635 cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) ATCCATCAGGCCGATGCAGTC 0.413000 TSP Lung(8;0.080) 15 12 2.23348e-06 2.46453e-06 0.146539 1 0 NKAP 79576 broad.mit.edu 37 X 119077487 119077487 + Missense_Mutation SNP G G T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chrX:119077487G>T ENST00000371410.3 - 1 248 c.82C>A c.(82-84)Ccg>Acg p.P28T NM_024528.3 NP_078804.2 Q8N5F7 NKAP_HUMAN NFKB activating protein 28 Ser-rich. negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent cytoplasm|nucleus chromatin binding|protein binding breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1) 20 CTGGGCTTCGGACTCTTCGAC 0.701000 19 39 6.44725e-10 7.78536e-10 0.069288 1 0 BACE2 25825 broad.mit.edu 37 21 42647329 42647329 + Missense_Mutation SNP C C T rs151128615 TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr21:42647329C>T ENST00000328735.6 + 8 1629 c.1166C>T c.(1165-1167)cCg>cTg p.P389L BACE2_ENST00000466122.1_3'UTR|BACE2_ENST00000330333.6_Silent_p.S445S|BACE2_ENST00000347667.4_Silent_p.S395S NM_138992.1 NP_620477.1 Q9Y5Z0 BACE2_HUMAN beta-site APP-cleaving enzyme 2 0 membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane aspartic-type endopeptidase activity endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 Prostate(19;1.57e-07)|all_epithelial(19;0.0251) CTGAAATTTCCGGGCCTTTCT 0.517000 4 83 0 0 0.014758 0 0 ACAD11 84129 broad.mit.edu 37 3 132378568 132378568 + Missense_Mutation SNP C C A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr3:132378568C>A ENST00000264990.6 - 1 999 c.28G>T c.(28-30)Gat>Tat p.D10Y ACAD11_ENST00000545291.1_5'UTR|ACAD11_ENST00000355458.3_Missense_Mutation_p.D10Y|ACAD11_ENST00000489991.1_5'UTR|UBA5_ENST00000356232.4_5'UTR|UBA5_ENST00000264991.4_Intron|ACAD11_ENST00000481970.2_Missense_Mutation_p.D10Y NM_032169.4 NP_115545.3 acyl-CoA dehydrogenase family, member 11 breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 36 TCGGCCAAATCGGACTCGCCA 0.602000 OREG0015804 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 114 1.49906e-05 1.62152e-05 0.119110 1 0 GPR63 81491 broad.mit.edu 37 6 97246721 97246721 + Missense_Mutation SNP A A T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr6:97246721A>T ENST00000229955.3 - 2 1232 c.887T>A c.(886-888)cTg>cAg p.L296Q GPR63_ENST00000417980.1_Missense_Mutation_p.L296Q NM_001143957.2|NM_030784.3 NP_001137429.1|NP_110411.1 Q9BZJ6 GPR63_HUMAN G protein-coupled receptor 63 296 integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721) BRCA - Breast invasive adenocarcinoma(108;0.0912) AGGTCTCTGCAGACTCATGAG 0.498000 18 56 0 0 0.160694 0 0 ZNF532 55205 broad.mit.edu 37 18 56651435 56651435 + Missense_Mutation SNP C C G TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr18:56651435C>G ENST00000336078.4 + 11 4419 c.3643C>G c.(3643-3645)Cac>Gac p.H1215D ZNF532_ENST00000588956.1_3'UTR|ZNF532_ENST00000589288.1_Missense_Mutation_p.H1215D|ZNF532_ENST00000591083.1_Missense_Mutation_p.H1215D|ZNF532_ENST00000591808.1_Missense_Mutation_p.H1215D|ZNF532_ENST00000591230.1_Missense_Mutation_p.H1215D NM_018181.4 NP_060651.2 Q9HCE3 ZN532_HUMAN zinc finger protein 532 1215 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1) 52 CTACACGTCTCACGTCTCTCT 0.527000 7 58 0 0 0.029380 0 0 KRT1 3848 broad.mit.edu 37 12 53072487 53072487 + Silent SNP C C T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr12:53072487C>T ENST00000252244.3 - 2 703 c.645G>A c.(643-645)ctG>ctA p.L215L NM_006121.3 NP_006112.3 P04264 K2C1_HUMAN keratin 1 215 Coil 1A.|Rod. complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress plasma membrane protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3) 39 CTACCTGCTGCAGCAGCTCCC 0.463000 25 51 0 0 0.116897 0 0 DNAH5 1767 broad.mit.edu 37 5 13845071 13845071 + Silent SNP G G T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr5:13845071G>T ENST00000265104.4 - 32 5250 c.5146C>A c.(5146-5148)Cgg>Agg p.R1716R NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1716 Stem (By similarity). R -> L (in CILD3). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) AAGAAAAACCGAGGAAAGCAC 0.443000 Kartagener syndrome 17 50 1.67942e-08 1.94246e-08 0.175082 1 0 BEND2 139105 broad.mit.edu 37 X 18220019 18220019 + Missense_Mutation SNP C C T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chrX:18220019C>T ENST00000380033.4 - 6 1081 c.949G>A c.(949-951)Gag>Aag p.E317K BEND2_ENST00000380030.3_Intron NM_153346.4 NP_699177.2 Q8NDZ0 BEND2_HUMAN BEN domain containing 2 317 NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1) 49 TTCGCTGTCTCAGTGCTGTTT 0.363000 31 86 0 0 0.144211 0 0 ELOVL7 79993 broad.mit.edu 37 5 60067895 60067895 + Silent SNP G G A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr5:60067895G>A ENST00000505959.1 - 6 577 c.51C>T c.(49-51)ctC>ctT p.L17L ELOVL7_ENST00000425382.1_Silent_p.L30L|ELOVL7_ENST00000508821.1_Silent_p.L30L|ELOVL7_ENST00000438340.1_Silent_p.L30L A1L3X0 ELOV7_HUMAN ELOVL fatty acid elongase 7 30 fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane fatty acid elongase activity|protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1) 9 Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481) GCGAGGACATGAGGAGCCAAT 0.438000 6 24 0 0 0.021553 0 0 PARK2 5071 broad.mit.edu 37 6 162683729 162683729 + Missense_Mutation SNP C C A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr6:162683729C>A ENST00000366898.1 - 3 342 c.240G>T c.(238-240)atG>atT p.M80I PARK2_ENST00000366892.1_Missense_Mutation_p.M80I|PARK2_ENST00000338468.3_5'UTR|PARK2_ENST00000366894.1_Intron|PARK2_ENST00000366896.1_Intron|PARK2_ENST00000366897.1_Missense_Mutation_p.M80I NM_004562.2 NP_004553.2 O60260 PRKN2_HUMAN parkin RBR E3 ubiquitin protein ligase 80 aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 39 all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102) UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046) CAGTTGCATTCATTTCTTGAC 0.527000 12 39 4.36969e-10 5.29325e-10 0.105934 1 0 ISY1-RAB43 100534599 broad.mit.edu 37 3 128849001 128849001 + Missense_Mutation SNP T T C TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr3:128849001T>C ENST00000418265.1 - 11 841 c.781A>G c.(781-783)Atg>Gtg p.M261V ISY1_ENST00000393292.3_3'UTR|ISY1_ENST00000471497.1_5'UTR|ISY1_ENST00000273541.8_Missense_Mutation_p.M283V|ISY1_ENST00000393295.3_Missense_Mutation_p.M261V NM_001204890.1 NP_001191819.1 Q9ULR0 ISY1_HUMAN 261 catalytic step 2 spliceosome AGGAGTTCCATTTTCTTCCTT 0.567000 26 104 0 0 0.099896 0 0 PCDHB7 56129 broad.mit.edu 37 5 140554405 140554405 + Silent SNP G G T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr5:140554405G>T ENST00000231137.3 + 1 2163 c.1989G>T c.(1987-1989)gtG>gtT p.V663V NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 663 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGCTCCTGGTGGACGGCTTCT 0.697000 13 45 9.16793e-09 1.06681e-08 0.160694 1 0 GOLGA8G 283768 broad.mit.edu 37 15 28769089 28769089 + Splice_Site SNP C C T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr15:28769089C>T ENST00000525590.2 - 15 1468 c.1407_splice c.e15+1 p.M469_splice GOLGA8G_ENST00000329523.6_Intron lung(1) 1 all_lung(180;1.98e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;4.69e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0201)|GBM - Glioblastoma multiforme(186;0.0503)|Lung(196;0.171) TCAGGCTTACCATGGCCTCCC 0.582000 12 89 0 0 0.105934 0 0 KRT24 192666 broad.mit.edu 37 17 38856487 38856487 + Missense_Mutation SNP C C G rs150081982 TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr17:38856487C>G ENST00000264651.2 - 4 1060 c.1004G>C c.(1003-1005)cGg>cCg p.R335P NM_019016.2 NP_061889.2 Q2M2I5 K1C24_HUMAN keratin 24 335 Coil 2.|Rod. cytoplasm|intermediate filament structural molecule activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Breast(137;0.00526) CTTGTTGAACCGCTCCTCAGC 0.547000 37 98 0 0 0.139131 0 0 BTG1 694 broad.mit.edu 37 12 92538007 92538007 + Missense_Mutation SNP C C A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr12:92538007C>A ENST00000256015.3 - 2 726 c.365G>T c.(364-366)tGt>tTt p.C122F NM_001731.2 NP_001722.1 P62324 BTG1_HUMAN B-cell translocation gene 1, anti-proliferative 122 cell migration|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of endothelial cell differentiation|positive regulation of myoblast differentiation|regulation of apoptosis|regulation of transcription, DNA-dependent cytoplasm|nucleus kinase binding|transcription cofactor activity haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(1)|lung(2) 16 Acute lymphoblastic leukemia(6;3.02e-13)|all_hematologic(6;4.32e-09) ATACAGCACACAGATGGAGCC 0.512000 T MYC BCLL OREG0022024 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 26 71 4.26978e-12 5.35815e-12 0.083992 1 0 CHCHD4 131474 broad.mit.edu 37 3 14154580 14154580 + Missense_Mutation SNP G G A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr3:14154580G>A ENST00000295767.5 - 4 599 c.275C>T c.(274-276)aCg>aTg p.T92M CHCHD4_ENST00000396914.3_Missense_Mutation_p.T79M NM_144636.2 NP_653237.1 Q8N4Q1 MIA40_HUMAN coiled-coil-helix-coiled-coil-helix domain containing 4 79 CHCH. protein transport|transmembrane transport mitochondrial intermembrane space kidney(1)|large_intestine(1)|lung(2)|prostate(1) 5 GATCTCCTCCGTGCTATAGTG 0.522000 22 17 0 0 0.055883 0 0 MIR196A2 406973 broad.mit.edu 37 12 54385611 54385611 + RNA SNP C C G TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr12:54385611C>G ENST00000385189.1 + 0 90 NR_029617.1 TGAGTTACATCAGTCGGTTTT 0.567000 7 20 0 0 0.029380 0 0 RIF1 55183 broad.mit.edu 37 2 152321320 152321320 + Silent SNP A A G TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr2:152321320A>G ENST00000243326.4 + 29 5769 c.5286A>G c.(5284-5286)acA>acG p.T1762T RIF1_ENST00000444746.2_Silent_p.T1762T|RIF1_ENST00000453091.2_Silent_p.T1762T|RIF1_ENST00000428287.2_Silent_p.T1762T|RIF1_ENST00000430328.2_Silent_p.T1762T Q5UIP0 RIF1_HUMAN RAP1 interacting factor homolog (yeast) 1762 cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 97 BRCA - Breast invasive adenocarcinoma(221;0.0429) TTAGTGAAACAAAAAAGGCAG 0.368000 20 57 0 0 0.049695 0 0 CBLN2 147381 broad.mit.edu 37 18 70209049 70209049 + Missense_Mutation SNP T T A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr18:70209049T>A ENST00000269503.4 - 3 1120 c.347A>T c.(346-348)tAt>tTt p.Y116F CBLN2_ENST00000581073.1_Intron|CBLN2_ENST00000584764.1_Intron|CBLN2_ENST00000585159.1_Missense_Mutation_p.Y116F|CBLN2_ENST00000583651.1_Intron NM_182511.3 NP_872317.1 Q8IUK8 CBLN2_HUMAN cerebellin 2 precursor 116 C1q. integral to membrane endometrium(2)|lung(15) 17 Esophageal squamous(42;0.131) CTGGTCGAAATAGATGGTCAT 0.706000 10 11 0 0 0.105934 0 0 HDAC9 9734 broad.mit.edu 37 7 18687533 18687533 + Missense_Mutation SNP G G C TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr7:18687533G>C ENST00000406451.3 + 10 1302 c.1152G>C c.(1150-1152)gaG>gaC p.E384D HDAC9_ENST00000401921.1_Missense_Mutation_p.E343D|HDAC9_ENST00000456174.2_Missense_Mutation_p.E356D|HDAC9_ENST00000524023.1_Missense_Mutation_p.E307D|HDAC9_ENST00000417496.2_Missense_Mutation_p.E382D|HDAC9_ENST00000428307.2_Missense_Mutation_p.E340D|HDAC9_ENST00000441542.2_Missense_Mutation_p.E387D|HDAC9_ENST00000406072.1_Missense_Mutation_p.E371D|HDAC9_ENST00000432645.2_Missense_Mutation_p.E384D|HDAC9_ENST00000405010.3_Missense_Mutation_p.E384D NM_178423.1|NM_178425.2 NP_848510.1|NP_848512.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 384 B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) TTACTTTAGAGGGAAAGCCAC 0.498000 6 7 0 0 0.021553 0 0 TTN 7273 broad.mit.edu 37 2 179494132 179494132 + Missense_Mutation SNP T T A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr2:179494132T>A ENST00000589042.1 - 240 44544 c.44320A>T c.(44320-44322)Acc>Tcc p.T14774S TTN_ENST00000460472.2_Missense_Mutation_p.T5709S|TTN_ENST00000342992.6_Missense_Mutation_p.T12206S|TTN_ENST00000342175.6_Missense_Mutation_p.T5901S|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T13133S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T5834S|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 13133 Fibronectin type-III 6. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCAGTCACGGTGACATCCTTT 0.463000 46 24 0 0 0.139131 0 0 ZNF33A 7581 broad.mit.edu 37 10 38345088 38345088 + Missense_Mutation SNP G G A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr10:38345088G>A ENST00000374618.3 + 5 2214 c.2036G>A c.(2035-2037)gGa>gAa p.G679E ZNF33A_ENST00000432900.2_Missense_Mutation_p.G685E|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000307441.9_Missense_Mutation_p.G678E|ZNF33A_ENST00000458705.2_Missense_Mutation_p.G678E NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2 NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1 Q06730 ZN33A_HUMAN zinc finger protein 33A 678 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2) 46 GTAAAATCAGGACTTATTTTC 0.388000 20 92 0 0 0.055883 0 0 ZNF280A 129025 broad.mit.edu 37 22 22869807 22869807 + Missense_Mutation SNP C C T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr22:22869807C>T ENST00000302097.3 - 2 400 c.148G>A c.(148-150)Ggg>Agg p.G50R NM_080740.3 NP_542778.1 P59817 Z280A_HUMAN zinc finger protein 280A 50 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 18 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22) READ - Rectum adenocarcinoma(21;0.145) GAAATCATCCCGACAAAGAGA 0.423000 4 77 0 0 0.150653 0 0 RNF17 56163 broad.mit.edu 37 13 25451323 25451323 + Splice_Site SNP T T C TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr13:25451323T>C ENST00000255324.5 + 34 4824 c.4773_splice c.e34+1 p.M1591_splice RNF17_ENST00000381921.1_Splice_Site_p.M1549_splice|RNF17_ENST00000339524.3_Splice_Site_p.M601_splice NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 1591 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) GCTGTGTCCATGGTAAGTGTC 0.413000 15 17 0 0 0.119110 0 0 CFHR4 10877 broad.mit.edu 37 1 196882035 196882035 + Missense_Mutation SNP C C T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr1:196882035C>T ENST00000367416.2 + 7 1297 c.1160C>T c.(1159-1161)gCa>gTa p.A387V CFHR4_ENST00000251424.4_Missense_Mutation_p.A141V|CFHR4_ENST00000367418.1_Missense_Mutation_p.A141V|CFHR2_ENST00000367421.3_Intron NM_001201550.2|NM_001201551.1 NP_001188479.1|NP_001188480.1 complement factor H-related 4 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 36 GGATGGTCAGCACAACCAATT 0.308000 35 95 0 0 0.104719 0 0 IL12A-AS1 101928376 broad.mit.edu 37 3 159820545 159820545 + RNA SNP G G T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr3:159820545G>T ENST00000497452.1 - 0 517 CTAAAAAGACGGATGTTGCTG 0.383000 34 25 1.03484e-13 1.32902e-13 0.080422 1 0 RGS7 6000 broad.mit.edu 37 1 241099909 241099909 + Nonsense_Mutation SNP G G T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr1:241099909G>T ENST00000366565.1 - 5 705 c.324C>A c.(322-324)taC>taA p.Y108* RGS7_ENST00000446183.2_Nonsense_Mutation_p.Y24*|RGS7_ENST00000366564.1_Nonsense_Mutation_p.Y108*|RGS7_ENST00000366562.4_Nonsense_Mutation_p.Y108*|RGS7_ENST00000407727.1_Nonsense_Mutation_p.Y108*|RGS7_ENST00000366563.1_Nonsense_Mutation_p.Y108*|RGS7_ENST00000348120.2_Intron|RGS7_ENST00000401882.1_Intron|RGS7_ENST00000331110.7_Nonsense_Mutation_p.Y82* NM_002924.4 NP_002915.3 P49802 RGS7_HUMAN regulator of G-protein signaling 7 108 DEP. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) CTTGAAACCGGTAAAAGGTGC 0.403000 15 58 2.31682e-05 2.49904e-05 0.132662 1 0 PEG10 23089 broad.mit.edu 37 7 94293079 94293079 + Missense_Mutation SNP C C G TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr7:94293079C>G ENST00000482108.1 + 2 690 c.211C>G c.(211-213)Ccc>Gcc p.P71A PEG10_ENST00000488574.1_Missense_Mutation_p.P71A NM_001040152.1|NM_001172438.1|NM_001184962.1 NP_001035242.1|NP_001165909.1|NP_001171891.1 Q86TG7 PEG10_HUMAN paternally expressed 10 71 apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1) 21 all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) TGCTGCCCCACCCCCTCCAAT 0.582000 7 13 0 0 0.029380 0 0 SPOCK3 50859 broad.mit.edu 37 4 167656083 167656083 + Missense_Mutation SNP C C T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr4:167656083C>T ENST00000357154.3 - 12 1437 c.1300G>A c.(1300-1302)Gta>Ata p.V434I SPOCK3_ENST00000541637.1_Missense_Mutation_p.V336I|SPOCK3_ENST00000541354.1_Missense_Mutation_p.V314I|SPOCK3_ENST00000421836.2_Missense_Mutation_p.V383I|SPOCK3_ENST00000502330.1_Missense_Mutation_p.V434I|SPOCK3_ENST00000534949.1_Missense_Mutation_p.V338I|SPOCK3_ENST00000511269.1_Missense_Mutation_p.V431I|SPOCK3_ENST00000357545.4_Missense_Mutation_p.V431I|SPOCK3_ENST00000512681.1_Missense_Mutation_p.V336I|SPOCK3_ENST00000510741.1_Missense_Mutation_p.V391I|SPOCK3_ENST00000506886.1_Missense_Mutation_p.V434I|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000511531.1_Missense_Mutation_p.V434I|SPOCK3_ENST00000504953.1_Missense_Mutation_p.V431I|SPOCK3_ENST00000535728.1_Missense_Mutation_p.V302I NM_016950.2 NP_058646.2 Q9BQ16 TICN3_HUMAN sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 434 Asp-rich. signal transduction proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase inhibitor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 38 all_hematologic(180;0.221) Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198) GBM - Glioblastoma multiforme(119;0.02) caaatgtatacatcatggtca 0.303000 20 23 0 0 0.049695 0 0 DLG3 1741 broad.mit.edu 37 X 69699025 69699025 + Silent SNP A A T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chrX:69699025A>T ENST00000194900.4 + 11 1826 c.1485A>T c.(1483-1485)atA>atT p.I495I DLG3_ENST00000374355.3_Silent_p.I140I|DLG3_ENST00000542398.1_5'UTR|DLG3_ENST00000374360.3_Silent_p.I477I Q92796 DLG3_HUMAN discs, large homolog 3 (Drosophila) 477 axon guidance|negative regulation of cell proliferation|synaptic transmission plasma membrane guanylate kinase activity endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1) 22 Renal(35;0.156) AATCGAAGATACATGACTTAC 0.483000 37 112 0 0 0.080422 0 0 OGDH 4967 broad.mit.edu 37 7 44733439 44733439 + Missense_Mutation SNP G G T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr7:44733439G>T ENST00000222673.5 + 11 1393 c.1351G>T c.(1351-1353)Gac>Tac p.D451Y OGDH_ENST00000449767.1_Missense_Mutation_p.D447Y|OGDH_ENST00000447398.1_Missense_Mutation_p.D462Y|OGDH_ENST00000444676.1_Missense_Mutation_p.D466Y|OGDH_ENST00000439616.2_Missense_Mutation_p.D301Y|OGDH_ENST00000543843.1_Missense_Mutation_p.D402Y NM_002541.3 NP_002532.2 Q02218 ODO1_HUMAN oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) 451 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 36 NADH(DB00157) CTTCACCACCGACCCTCGGAT 0.647000 8 12 3.09899e-07 3.48977e-07 0.047766 1 0 TMEM132C 92293 broad.mit.edu 37 12 128899828 128899828 + Missense_Mutation SNP G G T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr12:128899828G>T ENST00000435159.2 + 2 637 c.637G>T c.(637-639)Ggg>Tgg p.G213W NM_001136103.2 NP_001129575.2 Q8N3T6 T132C_HUMAN transmembrane protein 132C 213 integral to membrane breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1) 13 GGTGGGTGCCGGGAGGAAGAA 0.672000 3 8 0.115264 0.116785 0.115264 1 0 SAAL1 113174 broad.mit.edu 37 11 18112026 18112026 + Missense_Mutation SNP T T A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr11:18112026T>A ENST00000524803.1 - 5 477 c.428A>T c.(427-429)cAc>cTc p.H143L SAAL1_ENST00000533851.1_5'UTR|SAAL1_ENST00000529318.1_Missense_Mutation_p.H143L|SAAL1_ENST00000300013.4_Missense_Mutation_p.H143L Q96ER3 SAAL1_HUMAN serum amyloid A-like 1 143 acute-phase response extracellular region binding breast(2)|large_intestine(5)|lung(8) 15 ATACAAACAGTGCAATAACAC 0.333000 3 16 0 0 0.150653 0 0 C6orf165 154313 broad.mit.edu 37 6 88125575 88125575 + Missense_Mutation SNP C C G TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr6:88125575C>G ENST00000507897.1 + 5 538 c.455C>G c.(454-456)aCt>aGt p.T152S C6ORF165_ENST00000369562.4_Missense_Mutation_p.T152S Q8IYR0 CF165_HUMAN chromosome 6 open reading frame 165 152 NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0419) GACATCAAGACTGTCAGAGAG 0.363000 7 53 0 0 0.029380 0 0 TRMT1 55621 broad.mit.edu 37 19 13221060 13221060 + Missense_Mutation SNP C C A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr19:13221060C>A ENST00000592062.1 - 9 1501 c.931G>T c.(931-933)Gtg>Ttg p.V311L TRMT1_ENST00000437766.1_Missense_Mutation_p.V311L|TRMT1_ENST00000357720.4_Missense_Mutation_p.V311L|TRMT1_ENST00000221504.8_Missense_Mutation_p.V311L Q9NXH9 TRM1_HUMAN tRNA methyltransferase 1 homolog (S. cerevisiae) 311 RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(19;6.08e-22) GBM - Glioblastoma multiforme(1328;0.0356) AGCAGCGGCACCACGAAGCGC 0.652000 21 20 1.50039e-11 1.87062e-11 0.062417 1 0 FABP7 2173 broad.mit.edu 37 6 123102351 123102351 + Missense_Mutation SNP C C A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr6:123102351C>A ENST00000356535.4 + 3 396 c.360C>A c.(358-360)gaC>gaA p.D120E FABP7_ENST00000368444.3_Intron O15540 FABP7_HUMAN fatty acid binding protein 7, brain 0 negative regulation of cell proliferation cytoplasm lipid binding|transporter activity kidney(1)|large_intestine(1)|lung(2)|stomach(1) 5 GBM - Glioblastoma multiforme(226;0.226) Alpha-Linolenic Acid(DB00132)|gamma-Homolinolenic acid(DB00154)|Icosapent(DB00159) TAAGTAATGACAATTCTCCAT 0.408000 9 21 1.08611e-07 1.23758e-07 0.080935 1 0 DSG2 1829 broad.mit.edu 37 18 29126100 29126100 + Silent SNP G G A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr18:29126100G>A ENST00000261590.8 + 15 2960 c.2751G>A c.(2749-2751)gcG>gcA p.A917A RP11-75N4.2_ENST00000583706.1_RNA NM_001943.3 NP_001934.2 Q14126 DSG2_HUMAN desmoglein 2 917 cellular component disassembly involved in apoptosis|homophilic cell adhesion desmosome|integral to membrane calcium ion binding breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(10;0.0068) CTAGGCAGGCGCAAAAGGTAG 0.463000 4 92 0 0 0.150653 0 0 FAM83C 128876 broad.mit.edu 37 20 33874604 33874604 + Missense_Mutation SNP C C T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr20:33874604C>T ENST00000374408.3 - 4 2074 c.1978G>A c.(1978-1980)Gct>Act p.A660T NM_178468.5 NP_848563.1 Q9BQN1 FA83C_HUMAN family with sequence similarity 83, member C 660 central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(18;0.00252) GCCGTGCGAGCAGGGCTTGAT 0.627000 12 37 0 0 0.093190 0 0 OR1S2 219958 broad.mit.edu 37 11 57971606 57971606 + Missense_Mutation SNP T T G TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr11:57971606T>G ENST00000302592.6 - 1 47 c.48A>C c.(46-48)caA>caC p.Q16H NM_001004459.1 NP_001004459.1 Q8NGQ3 OR1S2_HUMAN olfactory receptor, family 1, subfamily S, member 2 16 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.Q16Q(1) endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1) 46 Breast(21;0.0589) TTTGGTTTTCTTGATGCATAT 0.408000 11 66 0 0 0.069234 0 0 CHST2 9435 broad.mit.edu 37 3 142840860 142840860 + Missense_Mutation SNP G G A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr3:142840860G>A ENST00000309575.3 + 2 2586 c.1202G>A c.(1201-1203)aGt>aAt p.S401N NM_004267.4 NP_004258.2 Q9Y4C5 CHST2_HUMAN carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2 401 inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2) 22 ATCTGCAATAGTATGGCTAAG 0.652000 23 129 0 0 0.076483 0 0 TCERG1 10915 broad.mit.edu 37 5 145850238 145850238 + Missense_Mutation SNP C C T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr5:145850238C>T ENST00000296702.5 + 8 1477 c.1439C>T c.(1438-1440)cCc>cTc p.P480L TCERG1_ENST00000394421.2_Missense_Mutation_p.P459L NM_006706.3 NP_006697.2 O14776 TCRG1_HUMAN transcription elongation regulator 1 480 Glu-rich. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1) 46 Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ATTAAAGAACCCTCTGAAGAG 0.388000 13 24 0 0 0.132662 0 0 COL3A1 1281 broad.mit.edu 37 2 189864214 189864214 + Missense_Mutation SNP G G T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr2:189864214G>T ENST00000304636.3 + 31 2310 c.2140G>T c.(2140-2142)Ggg>Tgg p.G714W COL3A1_ENST00000317840.5_Missense_Mutation_p.G714W NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 714 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) TGGTCCTCCTGGGCCACCTGG 0.473000 98 49 8.78727e-49 1.30282e-48 0.139131 1 0 ZAN 7455 broad.mit.edu 37 7 100345803 100345803 + RNA SNP T T A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr7:100345803T>A ENST00000542585.1 + 0 1215 ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) GAGCCAGCTGTGGCAGTTGAT 0.622000 14 37 0 0 0.132662 0 0 CNTN6 27255 broad.mit.edu 37 3 1414594 1414594 + Missense_Mutation SNP A A G TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr3:1414594A>G ENST00000446702.2 + 14 2368 c.1741A>G c.(1741-1743)Aca>Gca p.T581A CNTN6_ENST00000350110.2_Missense_Mutation_p.T581A|CNTN6_ENST00000539053.1_Missense_Mutation_p.T509A Q9UQ52 CNTN6_HUMAN contactin 6 581 Ig-like C2-type 6. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) CACAGTACAAACAACCCTAGA 0.368000 34 50 0 0 0.153744 0 0 ZC3H12A 80149 broad.mit.edu 37 1 37948750 37948750 + Silent SNP G G A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr1:37948750G>A ENST00000373087.6 + 6 1454 c.1338G>A c.(1336-1338)caG>caA p.Q446Q NM_025079.2 NP_079355.2 Q5D1E8 ZC12A_HUMAN zinc finger CCCH-type containing 12A 446 angiogenesis|apoptosis|cell differentiation cytoplasm|nucleus|plasma membrane endonuclease activity|metal ion binding NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) TGGAGAGCCAGATGTCGGAAC 0.647000 3 44 0 0 0.115264 0 0 EYA2 2139 broad.mit.edu 37 20 45633631 45633631 + Missense_Mutation SNP A A T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr20:45633631A>T ENST00000327619.5 + 4 580 c.206A>T c.(205-207)tAc>tTc p.Y69F EYA2_ENST00000317304.6_Missense_Mutation_p.Y69F|EYA2_ENST00000357410.3_Missense_Mutation_p.Y69F NM_005244.4 NP_005235.3 O00167 EYA2_HUMAN eyes absent homolog 2 (Drosophila) 69 DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus magnesium ion binding|protein binding|protein tyrosine phosphatase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0241) ATGGCAGCCTACGGCCAGACG 0.587000 18 66 0 0 0.049695 0 0 KBTBD3 143879 broad.mit.edu 37 11 105924356 105924356 + Missense_Mutation SNP A A T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr11:105924356A>T ENST00000526793.1 - 3 1219 c.1060T>A c.(1060-1062)Tgt>Agt p.C354S KBTBD3_ENST00000534815.1_Missense_Mutation_p.C275S|KBTBD3_ENST00000531837.1_Missense_Mutation_p.C354S NM_152433.3 NP_689646.2 Q8NAB2 KBTB3_HUMAN kelch repeat and BTB (POZ) domain containing 3 350 NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1) 25 Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321) BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299) GTTCGACAACATTTCCCTTTG 0.428000 19 36 0 0 0.175082 0 0 ATP2B3 492 broad.mit.edu 37 X 152814263 152814263 + Missense_Mutation SNP C C A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chrX:152814263C>A ENST00000370186.1 + 8 1573 c.1247C>A c.(1246-1248)cCa>cAa p.P416Q ATP2B3_ENST00000349466.2_Missense_Mutation_p.P430Q|ATP2B3_ENST00000263519.4_Missense_Mutation_p.P430Q|ATP2B3_ENST00000359149.3_Missense_Mutation_p.P430Q|ATP2B3_ENST00000370181.2_Missense_Mutation_p.P416Q|ATP2B3_ENST00000393842.1_Missense_Mutation_p.P416Q Q16720 AT2B3_HUMAN ATPase, Ca++ transporting, plasma membrane 3 430 ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3) 50 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GTGGCTGTCCCAGAGGGCCTG 0.502000 11 50 6.40141e-05 6.80926e-05 0.080935 1 0 OR2T1 26696 broad.mit.edu 37 1 248569749 248569749 + Missense_Mutation SNP T T C TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr1:248569749T>C ENST00000366474.1 + 1 454 c.454T>C c.(454-456)Ttc>Ctc p.F152L NM_030904.1 NP_112166.1 O43869 OR2T1_HUMAN olfactory receptor, family 2, subfamily T, member 1 152 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 39 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) AGCTCAACACTTCCTCTACCT 0.478000 43 104 0 0 0.111260 0 0 DMXL1 1657 broad.mit.edu 37 5 118500343 118500343 + Missense_Mutation SNP C C T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr5:118500343C>T ENST00000311085.8 + 20 4924 c.4844C>T c.(4843-4845)aCc>aTc p.T1615I DMXL1_ENST00000539542.1_Missense_Mutation_p.T1615I NM_005509.4 NP_005500.4 Q9Y485 DMXL1_HUMAN Dmx-like 1 1615 breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1) 86 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) GTCCGGAATACCCGCATCTTA 0.403000 25 36 0 0 0.099896 0 0 MXRA5 25878 broad.mit.edu 37 X 3235195 3235195 + Missense_Mutation SNP G G T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chrX:3235195G>T ENST00000217939.6 - 6 6681 c.6527C>A c.(6526-6528)cCg>cAg p.P2176Q NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 2176 Ig-like C2-type 6. extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) GAGGATGCGCGGCCAGGGGTC 0.677000 5 7 8.12818e-05 8.62216e-05 0.029380 1 0 GEMIN2 8487 broad.mit.edu 37 14 39597527 39597527 + Missense_Mutation SNP G G A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr14:39597527G>A ENST00000308317.6 + 7 691 c.608G>A c.(607-609)gGa>gAa p.G203E GEMIN2_ENST00000250379.8_Missense_Mutation_p.G188E|GEMIN2_ENST00000396249.2_Missense_Mutation_p.G203E NM_003616.2 NP_003607.1 O14893 GEMI2_HUMAN gem (nuclear organelle) associated protein 2 203 ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly Cajal body|cytosol|spliceosomal complex protein binding AATTGGTTTGGAGAAAGAGAC 0.343000 23 127 0 0 0.091800 0 0 FBN1 2200 broad.mit.edu 37 15 48807700 48807700 + Missense_Mutation SNP T T A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr15:48807700T>A ENST00000316623.5 - 12 1807 c.1352A>T c.(1351-1353)gAt>gTt p.D451V NM_000138.4 NP_000129.3 P35555 FBN1_HUMAN fibrillin 1 451 EGF-like 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) CTGGCAGTAATCAGTAACGTT 0.438000 10 84 0 0 0.080935 0 0 HERC2P3 283755 broad.mit.edu 37 15 20588619 20588619 + RNA SNP C C T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr15:20588619C>T ENST00000428453.1 - 0 4131 central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 TTCTCCTTCTCACACACTGAG 0.403000 10 32 0 0 0.058154 0 0 ZBTB24 9841 broad.mit.edu 37 6 109802666 109802666 + Silent SNP C C G TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr6:109802666C>G ENST00000230122.3 - 2 731 c.564G>C c.(562-564)gtG>gtC p.V188V NM_001164313.1|NM_014797.2 NP_001157785.1|NP_055612.2 O43167 ZBT24_HUMAN zinc finger and BTB domain containing 24 188 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 22 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059) CTGAATTGTTCACTCTTAACT 0.413000 65 187 0 0 0.139131 0 0 USP29 57663 broad.mit.edu 37 19 57641701 57641701 + Missense_Mutation SNP G G T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr19:57641701G>T ENST00000254181.4 + 4 2112 c.1658G>T c.(1657-1659)aGt>aTt p.S553I USP29_ENST00000598197.1_Missense_Mutation_p.S553I NM_020903.2 NP_065954.1 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 553 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity p.S553I(1) breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CCCTTGAGCAGTAGTGCACCT 0.423000 39 175 8.16277e-20 1.11947e-19 0.092188 1 0 DIAPH2 1730 broad.mit.edu 37 X 96220178 96220178 + Missense_Mutation SNP G G T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chrX:96220178G>T ENST00000324765.8 + 17 2369 c.2022G>T c.(2020-2022)ttG>ttT p.L674F DIAPH2_ENST00000355827.4_Missense_Mutation_p.L674F|DIAPH2_ENST00000373061.3_Missense_Mutation_p.L674F|DIAPH2_ENST00000373049.4_Missense_Mutation_p.L674F|DIAPH2_ENST00000373054.4_Missense_Mutation_p.L670F O60879 DIAP2_HUMAN diaphanous-related formin 2 674 FH2. cell differentiation|cytokinesis|multicellular organismal development|oogenesis cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus receptor binding|Rho GTPase binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 51 TTGCCAAATTGGCATTGAATT 0.303000 9 26 0.000274275 0.0002862 0.047766 1 0 NAV3 89795 broad.mit.edu 37 12 78444759 78444759 + Missense_Mutation SNP C C T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr12:78444759C>T ENST00000397909.2 + 11 2521 c.2348C>T c.(2347-2349)aCg>aTg p.T783M NAV3_ENST00000228327.6_Missense_Mutation_p.T783M|NAV3_ENST00000266692.7_Missense_Mutation_p.T783M|NAV3_ENST00000536525.2_Missense_Mutation_p.T783M Q8IVL0 NAV3_HUMAN neuron navigator 3 783 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 ATGTATACCACGCCTCTCCGT 0.552000 HNSCC(70;0.22) 10 30 0 0 0.080935 0 0 TSPAN8 7103 broad.mit.edu 37 12 71523125 71523125 + Missense_Mutation SNP G G T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr12:71523125G>T ENST00000393330.2 - 11 1198 c.646C>A c.(646-648)Ctg>Atg p.L216M TSPAN8_ENST00000552128.1_Missense_Mutation_p.L133M|TSPAN8_ENST00000247829.3_Missense_Mutation_p.L216M|TSPAN8_ENST00000546561.1_Missense_Mutation_p.L216M P19075 TSN8_HUMAN tetraspanin 8 216 protein glycosylation integral to membrane|lysosome signal transducer activity breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1) 19 LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244) ATAACTGCCAGTCCAAATGAT 0.274000 3 21 1.23904e-05 1.34404e-05 0.014758 1 0 SMS 6611 broad.mit.edu 37 X 21995233 21995233 + Missense_Mutation SNP C C A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chrX:21995233C>A ENST00000404933.2 + 5 636 c.384C>A c.(382-384)gaC>gaA p.D128E SMS_ENST00000415881.2_Missense_Mutation_p.D32E|SMS_ENST00000379404.1_Missense_Mutation_p.D75E|SMS_ENST00000478094.1_3'UTR NM_004595.4 NP_004586.2 P52788 SPSY_HUMAN spermine synthase 128 methionine metabolic process|spermine biosynthetic process cytosol spermidine synthase activity|spermine synthase activity endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(2) 14 Spermine(DB00127) CCACCGCCGACGGGCGCCTGG 0.428000 27 60 7.41945e-09 8.68619e-09 0.108266 1 0 CD226 10666 broad.mit.edu 37 18 67531612 67531612 + Missense_Mutation SNP T T A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr18:67531612T>A ENST00000280200.4 - 7 1217 c.949A>T c.(949-951)Aca>Tca p.T317S CD226_ENST00000577287.1_Missense_Mutation_p.T162S|CD226_ENST00000582621.1_Missense_Mutation_p.T317S|CD226_ENST00000581982.1_Missense_Mutation_p.T162S NM_006566.2 NP_006557.2 Q15762 CD226_HUMAN CD226 molecule 317 cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target cell surface|integral to plasma membrane|membrane raft cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1) 24 Esophageal squamous(42;0.129) TCCTCTCTTGTATCATCCATG 0.388000 33 61 0 0 0.183431 0 0 KIF17 57576 broad.mit.edu 37 1 20992741 20992741 + Silent SNP G G A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr1:20992741G>A ENST00000247986.2 - 14 3187 c.2877C>T c.(2875-2877)agC>agT p.S959S KIF17_ENST00000490034.1_5'UTR|KIF17_ENST00000400463.3_Silent_p.S958S|KIF17_ENST00000375044.1_Silent_p.S859S Q9P2E2 KIF17_HUMAN kinesin family member 17 959 microtubule-based movement|protein transport cytoplasm|microtubule ATP binding NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209) TGAGGATCTGGCTGGCCCGCT 0.577000 31 43 0 0 0.163468 0 0 COL6A5 256076 broad.mit.edu 37 3 130189796 130189796 + Missense_Mutation SNP C C A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr3:130189796C>A ENST00000265379.6 + 39 8053 c.7559C>A c.(7558-7560)aCa>aAa p.T2520K COL6A5_ENST00000432398.2_Missense_Mutation_p.T2520K A8TX70 CO6A5_HUMAN collagen, type VI, alpha 5 2520 Nonhelical region. axon guidance|cell adhesion collagen endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1) 44 AACGGTGGCACAGAAAACACT 0.418000 6 33 0.00116845 0.00119649 0.021553 1 0 FAM115C 285966 broad.mit.edu 37 7 143417115 143417115 + Silent SNP C C T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr7:143417115C>T ENST00000441159.2 + 3 1029 c.963C>T c.(961-963)tgC>tgT p.C321C FAM115C_ENST00000409703.3_Silent_p.C157C|FAM115C_ENST00000425618.2_Silent_p.C40C|FAM115C_ENST00000444908.2_Silent_p.C321C|FAM115C_ENST00000411935.1_Silent_p.C157C|FAM115C_ENST00000411497.2_Silent_p.C40C|FAM115C_ENST00000357344.4_Silent_p.C321C A6NFQ2 F115C_HUMAN family with sequence similarity 115, member C 321 endometrium(2)|large_intestine(4)|lung(2)|prostate(1) 9 GCCTGCAATGCAGCCTGGAGC 0.562000 15 69 0 0 0.069288 0 0 FAM179A 165186 broad.mit.edu 37 2 29255814 29255814 + Missense_Mutation SNP A A G TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr2:29255814A>G ENST00000379558.4 + 15 2378 c.2027A>G c.(2026-2028)aAg>aGg p.K676R FAM179A_ENST00000403861.2_Missense_Mutation_p.K621R|FAM179A_ENST00000465300.1_3'UTR NM_199280.2 NP_954974.2 Q6ZUX3 F179A_HUMAN family with sequence similarity 179, member A 676 binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 TATGGCCGGAAGATGGTGAAT 0.403000 4 14 0 0 0.150653 0 0 TNK2 10188 broad.mit.edu 37 3 195597149 195597149 + Missense_Mutation SNP C C A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr3:195597149C>A ENST00000316664.3 - 11 1911 c.1578G>T c.(1576-1578)aaG>aaT p.K526N TNK2_ENST00000428187.1_Intron|TNK2_ENST00000392400.1_Intron|TNK2_ENST00000333602.6_Intron|TNK2_ENST00000381916.2_Intron Q07912 ACK1_HUMAN tyrosine kinase, non-receptor, 2 0 Missing (in Ref. 4; AAH08884). positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction adherens junction|cytoplasmic vesicle membrane|endosome|nucleus ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1) 29 all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;0.000757) Adenosine triphosphate(DB00171) ATCAGAGCCCCTTCGTCCTGG 0.622000 19 9 1.2644e-06 1.40342e-06 0.055883 1 0 PCLO 27445 broad.mit.edu 37 7 82585441 82585441 + Nonsense_Mutation SNP G G A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr7:82585441G>A ENST00000423517.2 - 5 5165 c.4828C>T c.(4828-4830)Cga>Tga p.R1610* PCLO_ENST00000333891.8_Nonsense_Mutation_p.R1610* NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1541 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 CGAGTCAGTCGTCTGTGTTTC 0.428000 34 224 0 0 0.163468 0 0 PNMA2 10687 broad.mit.edu 37 8 26365761 26365761 + Missense_Mutation SNP T T G TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr8:26365761T>G ENST00000522362.2 - 3 1405 c.511A>C c.(511-513)Agt>Cgt p.S171R NM_007257.5 NP_009188.1 Q9UL42 PNMA2_HUMAN paraneoplastic Ma antigen 2 171 apoptosis nucleolus protein binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3) 11 all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105) UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123) gggacagcactccctgagaat 0.537000 15 75 0 0 0.146539 0 0 TPTEP1 387590 broad.mit.edu 37 22 17119557 17119557 + RNA SNP G G T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr22:17119557G>T ENST00000426585.1 + 0 369 TATTCCTTCGGAGTATCGTTC 0.353000 12 30 3.27435e-08 3.76453e-08 0.119110 1 0 ERO1L 30001 broad.mit.edu 37 14 53112872 53112872 + Splice_Site SNP C C G TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr14:53112872C>G ENST00000395686.3 - 15 1569 c.1346_splice c.e15+1 p.R449_splice NM_014584.1 NP_055399.1 Q96HE7 ERO1A_HUMAN ERO1-like (S. cerevisiae) 449 chaperone mediated protein folding requiring cofactor|electron transport chain|protein thiol-disulfide exchange|response to temperature stimulus|transport endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome disulfide oxidoreductase activity|flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor ERO1L/FERMT2(2) breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1) 12 Breast(41;0.226) TCAAACTAACCTTCCAAATGC 0.333000 14 34 0 0 0.132662 0 0 CHAF1B 8208 broad.mit.edu 37 21 37785298 37785298 + Missense_Mutation SNP G G T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr21:37785298G>T ENST00000314103.4 + 12 1329 c.1178G>T c.(1177-1179)aGa>aTa p.R393I NM_005441.2 NP_005432.1 Q13112 CAF1B_HUMAN chromatin assembly factor 1, subunit B (p60) 393 cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent CAF-1 complex|cytoplasm chromatin binding|histone binding|unfolded protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2) 20 TTGAACATGAGAACTCCTGAT 0.483000 15 35 2.48551e-13 3.17088e-13 0.160694 1 0 SLC5A5 6528 broad.mit.edu 37 19 17986870 17986870 + Missense_Mutation SNP A A T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr19:17986870A>T ENST00000222248.3 + 5 1000 c.653A>T c.(652-654)cAg>cTg p.Q218L NM_000453.2 NP_000444.1 Q92911 SC5A5_HUMAN solute carrier family 5 (sodium/iodide cotransporter), member 5 218 cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process integral to membrane|nucleus|plasma membrane iodide transmembrane transporter activity|sodium:iodide symporter activity NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3) 31 GGGCCCCGCCAGGTGCTCACG 0.607000 25 106 0 0 0.134883 0 0 AGBL2 79841 broad.mit.edu 37 11 47712048 47712048 + Missense_Mutation SNP T T A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr11:47712048T>A ENST00000525123.1 - 10 1496 c.1211A>T c.(1210-1212)cAa>cTa p.Q404L AGBL2_ENST00000528244.1_Missense_Mutation_p.Q366L|AGBL2_ENST00000357610.3_Missense_Mutation_p.Q404L|AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000298861.4_Missense_Mutation_p.Q404L NM_024783.3 NP_079059.2 Q5U5Z8 CBPC2_HUMAN ATP/GTP binding protein-like 2 404 proteolysis cytosol metallocarboxypeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1) 34 GAGGTAGCATTGCAAATCAGT 0.468000 14 58 0 0 0.119110 0 0 IL12A-AS1 101928376 broad.mit.edu 37 3 159820546 159820546 + RNA SNP G G T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr3:159820546G>T ENST00000497452.1 - 0 517 TAAAAAGACGGATGTTGCTGA 0.388000 33 24 5.71845e-15 7.44368e-15 0.080422 1 0 ZNF383 163087 broad.mit.edu 37 19 37733492 37733492 + Silent SNP A A T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr19:37733492A>T ENST00000589413.1 + 8 937 c.354A>T c.(352-354)ggA>ggT p.G118G ZNF383_ENST00000590503.1_Silent_p.G118G|ZNF383_ENST00000352998.3_Silent_p.G118G Q8NA42 ZN383_HUMAN zinc finger protein 383 118 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1) 15 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CCAGTTTTGGAGATGTTTTGG 0.373000 37 57 0 0 0.098360 0 0 EPHA5 2044 broad.mit.edu 37 4 66230769 66230769 + Silent SNP A A G TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr4:66230769A>G ENST00000273854.3 - 12 2802 c.2202T>C c.(2200-2202)ccT>ccC p.P734P EPHA5_ENST00000354839.4_Silent_p.P712P|EPHA5_ENST00000432638.2_Silent_p.P571P|EPHA5_ENST00000511294.1_Silent_p.P735P NM_004439.5 NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 734 Protein kinase. cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 GGATGATGTTAGGATGATCAA 0.363000 TSP Lung(17;0.13) 34 45 0 0 0.086207 0 0 STK26 51765 broad.mit.edu 37 X 131207017 131207017 + Missense_Mutation SNP G G C TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chrX:131207017G>C ENST00000394334.2 + 11 1375 c.1122G>C c.(1120-1122)agG>agC p.R374S MST4_ENST00000496850.1_Missense_Mutation_p.R312S|MST4_ENST00000481105.1_Missense_Mutation_p.R396S|MST4_ENST00000354719.6_Missense_Mutation_p.R350S|MST4_ENST00000394335.2_Missense_Mutation_p.R297S NM_016542.3 NP_057626.2 Q9P289 MST4_HUMAN 374 cellular component disassembly involved in apoptosis|regulation of apoptosis cytosol|Golgi membrane ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(192;0.000127) ACGCTAGCAGGAATCAGGCGA 0.368000 44 68 0 0 0.117977 0 0 SLC44A5 204962 broad.mit.edu 37 1 75716976 75716976 + Silent SNP G G A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr1:75716976G>A ENST00000370855.5 - 7 377 c.264C>T c.(262-264)aaC>aaT p.N88N SLC44A5_ENST00000370859.3_Silent_p.N88N|SLC44A5_ENST00000535611.1_5'UTR|SLC44A5_ENST00000469525.1_5'UTR NM_152697.4 NP_689910.2 Q8NCS7 CTL5_HUMAN solute carrier family 44, member 5 88 integral to membrane|plasma membrane choline transmembrane transporter activity kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 AAATGGTCTTGTTCCTGTTAA 0.378000 13 26 0 0 0.119110 0 0 CARD6 84674 broad.mit.edu 37 5 40853726 40853726 + Silent SNP G G A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr5:40853726G>A ENST00000254691.5 + 3 2491 c.2292G>A c.(2290-2292)aaG>aaA p.K764K CARD6_ENST00000381677.3_Intron NM_032587.3 NP_115976.2 Q9BX69 CARD6_HUMAN caspase recruitment domain family, member 6 764 apoptosis|regulation of apoptosis intracellular NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 62 AGAGGCCTAAGTGGTTCCATC 0.488000 60 128 0 0 0.139131 0 0 ARHGAP12 94134 broad.mit.edu 37 10 32197132 32197132 + Nonsense_Mutation SNP C C A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr10:32197132C>A ENST00000375250.5 - 3 893 c.652G>T c.(652-654)Gaa>Taa p.E218* ARHGAP12_ENST00000344936.2_Nonsense_Mutation_p.E218*|ARHGAP12_ENST00000396144.4_Nonsense_Mutation_p.E218*|ARHGAP12_ENST00000311380.4_Nonsense_Mutation_p.E218*|ARHGAP12_ENST00000375245.4_Nonsense_Mutation_p.E218* NM_001270696.1 NP_001257625.1 Q8IWW6 RHG12_HUMAN Rho GTPase activating protein 12 218 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2) 31 Prostate(175;0.0199) CTGCTAAGTTCATCACCAGAT 0.378000 16 56 6.72482e-11 8.27671e-11 0.132662 1 0 CHAT 1103 broad.mit.edu 37 10 50828553 50828553 + Missense_Mutation SNP T T G TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr10:50828553T>G ENST00000395562.2 + 5 815 c.346T>G c.(346-348)Tgg>Ggg p.W116G CHAT_ENST00000337653.2_Missense_Mutation_p.W198G|CHAT_ENST00000339797.1_Missense_Mutation_p.W80G|CHAT_ENST00000460699.1_3'UTR|CHAT_ENST00000351556.3_Missense_Mutation_p.W80G|CHAT_ENST00000455728.2_Missense_Mutation_p.W80G|CHAT_ENST00000395559.2_Missense_Mutation_p.W80G NM_001142933.1|NM_001142934.1 NP_001136405.1|NP_001136406.1 P28329 CLAT_HUMAN choline O-acetyltransferase 198 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1) 56 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) GTCTGAGTACTGGCTGAATGA 0.597000 40 85 0 0 0.111260 0 0 BRINP1 1620 broad.mit.edu 37 9 122004443 122004443 + Nonsense_Mutation SNP G G T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr9:122004443G>T ENST00000265922.3 - 4 922 c.461C>A c.(460-462)tCa>tAa p.S154* DBC1_ENST00000373964.2_Nonsense_Mutation_p.S154* NM_014618.2 NP_055433.2 O60477 DBC1_HUMAN 154 MACPF. 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 GGCATTCCCTGACTTCCTGTC 0.478000 38 18 6.19805e-25 8.88079e-25 0.080422 1 0 SPTA1 6708 broad.mit.edu 37 1 158624459 158624459 + Missense_Mutation SNP G G T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr1:158624459G>T ENST00000368148.3 - 21 3158 c.2978C>A c.(2977-2979)cCc>cAc p.P993H SPTA1_ENST00000368147.3_Missense_Mutation_p.P993H NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 993 SH3. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) GACTTCTCGGGGGCTGCGGGC 0.468000 11 25 9.31168e-06 1.01871e-05 0.105934 1 0 FUT8 2530 broad.mit.edu 37 14 66208932 66208932 + Missense_Mutation SNP A A C TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr14:66208932A>C ENST00000360689.5 + 11 3259 c.1532A>C c.(1531-1533)tAt>tCt p.Y511S FUT8_ENST00000557164.1_Missense_Mutation_p.Y348S|FUT8_ENST00000417683.1_Missense_Mutation_p.Y105S|FUT8_ENST00000394586.2_Missense_Mutation_p.Y511S|FUT8_ENST00000394585.1_Missense_Mutation_p.Y511S|FUT8_ENST00000358307.2_Missense_Mutation_p.Y382S NM_004480.4|NM_178155.2 NP_004471.4|NP_835368.1 Q9BYC5 FUT8_HUMAN fucosyltransferase 8 (alpha (1,6) fucosyltransferase) 511 SH3. in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2) 22 all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114) ATTGCCATTTATGCTCACCAA 0.433000 38 77 0 0 0.092188 0 0 RGS7 6000 broad.mit.edu 37 1 240979618 240979618 + Splice_Site SNP T T A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr1:240979618T>A ENST00000366565.1 - 11 1163 c.783_splice c.e11+1 p.Q261_splice RGS7_ENST00000446183.2_Splice_Site_p.Q177_splice|RGS7_ENST00000366564.1_Splice_Site_p.Q261_splice|RGS7_ENST00000366562.4_Splice_Site_p.Q261_splice|RGS7_ENST00000407727.1_Splice_Site_p.Q261_splice|RGS7_ENST00000366563.1_Splice_Site_p.Q261_splice|RGS7_ENST00000348120.2_Splice_Site_p.Q208_splice|RGS7_ENST00000401882.1_Splice_Site_p.Q208_splice|RGS7_ENST00000331110.7_Splice_Site_p.Q235_splice NM_002924.4 NP_002915.3 P49802 RGS7_HUMAN regulator of G-protein signaling 7 261 G protein gamma. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) TTGACTCACCTGTTGTTGTAA 0.373000 30 91 0 0 0.069456 0 0 NPR2 4882 broad.mit.edu 37 9 35794092 35794092 + Missense_Mutation SNP G G T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr9:35794092G>T ENST00000342694.2 + 2 1120 c.865G>T c.(865-867)Gcc>Tcc p.A289S NM_003995.3 NP_003986.2 P20594 ANPRB_HUMAN natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) 289 intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure integral to membrane|plasma membrane GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 45 all_epithelial(49;0.161) LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194) Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899) cctcagagaggcctttcaggt 0.577000 12 11 2.80697e-09 3.32678e-09 0.080935 1 0 PITPNM2 57605 broad.mit.edu 37 12 123489976 123489976 + Missense_Mutation SNP G G C TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr12:123489976G>C ENST00000280562.5 - 6 968 c.763C>G c.(763-765)Cgt>Ggt p.R255G PITPNM2_ENST00000320201.4_Missense_Mutation_p.R255G|PITPNM2_ENST00000546049.1_Missense_Mutation_p.R255G|PITPNM2_ENST00000542749.1_Missense_Mutation_p.R255G|PITPNM2_ENST00000451868.2_5'UTR|PITPNM2_ENST00000392428.1_Intron Q9BZ72 PITM2_HUMAN phosphatidylinositol transfer protein, membrane-associated 2 255 metabolic process|transport endomembrane system|integral to membrane|intracellular membrane-bounded organelle calcium ion binding|lipid binding p.R255S(1) NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 39 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123) GCCATCTTACGGGAAAGCATG 0.637000 39 113 0 0 0.074837 0 0 C11orf87 399947 broad.mit.edu 37 11 109294845 109294845 + Missense_Mutation SNP T T G TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr11:109294845T>G ENST00000327419.6 + 2 889 c.486T>G c.(484-486)tgT>tgG p.C162W RP11-708B6.2_ENST00000532992.1_RNA|RP11-708B6.2_ENST00000532929.1_RNA NM_207645.3 NP_997528.2 Q6NUJ2 CK087_HUMAN chromosome 11 open reading frame 87 162 integral to membrane breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1) 17 AGGGTCCCTGTGCTCCTCCGC 0.672000 7 40 0 0 0.029380 0 0 RBP3 5949 broad.mit.edu 37 10 48387902 48387902 + Silent SNP G G T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr10:48387902G>T ENST00000224600.4 - 1 3089 c.2976C>A c.(2974-2976)ctC>ctA p.L992L NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 992 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) GGTCTCCGGAGAGCATCTGCA 0.602000 31 91 6.04164e-23 8.52938e-23 0.153744 1 0 KMT2A 4297 broad.mit.edu 37 11 118343463 118343463 + Missense_Mutation SNP G G A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr11:118343463G>A ENST00000534358.1 + 3 1612 c.1589G>A c.(1588-1590)aGg>aAg p.R530K KMT2A_ENST00000389506.5_Missense_Mutation_p.R530K|KMT2A_ENST00000354520.4_Missense_Mutation_p.R530K NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A AGAAGCAGAAGGTATTCAGTG 0.498000 13 85 0 0 0.105934 0 0 CHD6 84181 broad.mit.edu 37 20 40068726 40068726 + Silent SNP G G A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr20:40068726G>A ENST00000373233.3 - 26 4098 c.3921C>T c.(3919-3921)tgC>tgT p.C1307C CHD6_ENST00000309279.7_Silent_p.C790C NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 1307 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) TCTCCAGGAAGCAAAGTGCTG 0.473000 19 42 0 0 0.055883 0 0 ZNF876P 642280 broad.mit.edu 37 4 248278 248278 + RNA SNP A A T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr4:248278A>T ENST00000356347.3 + 0 1102 NR_027481.1 TGAACATAAGAATATTCATAC 0.373000 8 11 0 0 0.047766 0 0 KCNV1 27012 broad.mit.edu 37 8 110980809 110980809 + Missense_Mutation SNP C C A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr8:110980809C>A ENST00000524391.1 - 4 2043 c.1011G>T c.(1009-1011)atG>atT p.M337I KCNV1_ENST00000297404.1_Missense_Mutation_p.M337I Q6PIU1 KCNV1_HUMAN potassium channel, subfamily V, member 1 337 voltage-gated potassium channel complex ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;5.35e-13) GGGTGATTGTCATCCCAAGGG 0.483000 16 37 3.32936e-07 3.73823e-07 0.175082 1 0 IL17F 112744 broad.mit.edu 37 6 52101905 52101905 + Missense_Mutation SNP C C A rs146083682 TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr6:52101905C>A ENST00000336123.4 - 3 423 c.316G>T c.(316-318)Ggc>Tgc p.G106C NM_052872.3 NP_443104.1 Q96PD4 IL17F_HUMAN interleukin 17F 106 cartilage development|inflammatory response|lymphotoxin A biosynthetic process|negative regulation of angiogenesis|proteoglycan metabolic process|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|regulation of interleukin-2 biosynthetic process|regulation of interleukin-6 biosynthetic process|regulation of interleukin-8 biosynthetic process|regulation of transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|cytokine binding|protein homodimerization activity NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1) 14 Lung NSC(77;0.116) TTGATGCAGCCCAAGTTCCTA 0.557000 8 18 0.000274275 0.0002862 0.047766 1 0 AMER1 139285 broad.mit.edu 37 X 63412151 63412151 + Missense_Mutation SNP C C A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chrX:63412151C>A ENST00000330258.3 - 2 1288 c.1016G>T c.(1015-1017)aGt>aTt p.S339I AMER1_ENST00000403336.1_Missense_Mutation_p.S339I|AMER1_ENST00000374869.3_Missense_Mutation_p.S339I NM_152424.3 NP_689637.3 APC membrane recruitment protein 1 p.0?(67) GTCTGTCATACTGTCCATGTC 0.537000 86 119 4.869e-31 7.05546e-31 0.139131 1 0 MAGEE1 57692 broad.mit.edu 37 X 75648802 75648802 + Missense_Mutation SNP C C T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chrX:75648802C>T ENST00000361470.2 + 1 757 c.479C>T c.(478-480)cCg>cTg p.P160L NM_020932.2 NP_065983.1 Q9HCI5 MAGE1_HUMAN melanoma antigen family E, 1 160 Pro-rich. dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 51 TCTGAGGTACCGAGCACCTCC 0.682000 12 46 0 0 0.132662 0 0 OR5K4 403278 broad.mit.edu 37 3 98073045 98073045 + Silent SNP G G T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr3:98073045G>T ENST00000354924.2 + 1 348 c.348G>T c.(346-348)gcG>gcT p.A116A RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005517.1 NP_001005517.1 A6NMS3 OR5K4_HUMAN olfactory receptor, family 5, subfamily K, member 4 116 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1) 21 TTCTTCTGGCGACAATGGCCT 0.458000 177 140 1.29928e-97 1.94134e-97 0.139131 1 0 GOLGA2P9 440518 broad.mit.edu 37 19 22785426 22785426 + RNA SNP C C A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr19:22785426C>A ENST00000600260.1 + 0 1515 NR_033899.1 GCAGCTGATGCAGGAAAAGGT 0.582000 20 66 8.04996e-18 1.08083e-17 0.062417 1 0 TMTC2 160335 broad.mit.edu 37 12 83290168 83290168 + Missense_Mutation SNP C C G TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr12:83290168C>G ENST00000549919.1 + 4 3013 c.1208C>G c.(1207-1209)aCg>aGg p.T403R TMTC2_ENST00000548305.1_Missense_Mutation_p.T409R|TMTC2_ENST00000321196.3_Missense_Mutation_p.T409R Q8N394 TMTC2_HUMAN transmembrane and tetratricopeptide repeat containing 2 409 endoplasmic reticulum|integral to membrane binding p.T409R(2) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1) 39 GTTCCTGCCACGAACCTGTTT 0.418000 10 121 0 0 0.058154 0 0 NRIP3 56675 broad.mit.edu 37 11 9009771 9009771 + Missense_Mutation SNP C C A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr11:9009771C>A ENST00000309166.3 - 2 346 c.233G>T c.(232-234)aGc>aTc p.S78I NRIP3_ENST00000531090.1_Missense_Mutation_p.S78I NM_020645.2 NP_065696.1 Q9NQ35 NRIP3_HUMAN nuclear receptor interacting protein 3 78 proteolysis aspartic-type endopeptidase activity large_intestine(1)|lung(4)|skin(1)|stomach(1) 7 Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241) ACGGGGACCGCTTCGGAGCTT 0.493000 42 54 2.26627e-22 3.18773e-22 0.098360 1 0 OR52E4 390081 broad.mit.edu 37 11 5906037 5906037 + Missense_Mutation SNP G G T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr11:5906037G>T ENST00000316987.2 + 1 537 c.515G>T c.(514-516)gGg>gTg p.G172V NM_001005165.1 NP_001005165.1 Q8NGH9 O52E4_HUMAN olfactory receptor, family 52, subfamily E, member 4 172 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2) 30 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCATTCTGTGGGCATAACATC 0.453000 32 57 8.73648e-17 1.16083e-16 0.069456 1 0 IGKV5-2 28907 broad.mit.edu 37 2 89197014 89197014 + RNA SNP C C A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr2:89197014C>A ENST00000390244.2 + 0 122 GATACCAGGGCAGAAACGACA 0.383000 18 20 6.94344e-10 8.35825e-10 0.175082 1 0 BIRC6 57448 broad.mit.edu 37 2 32726872 32726872 + Missense_Mutation SNP A A G TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr2:32726872A>G ENST00000421745.2 + 47 9258 c.9124A>G c.(9124-9126)Acc>Gcc p.T3042A NM_016252.3 NP_057336.3 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 3042 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) CATACTGACAACCCTTAGTAA 0.403000 23 56 0 0 0.076483 0 0 CENPE 1062 broad.mit.edu 37 4 104079563 104079563 + Missense_Mutation SNP T T A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr4:104079563T>A ENST00000265148.3 - 24 3016 c.2927A>T c.(2926-2928)cAt>cTt p.H976L CENPE_ENST00000380026.3_Missense_Mutation_p.H951L NM_001813.2 NP_001804.2 Q02224 CENPE_HUMAN centromere protein E, 312kDa 976 blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3) 101 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) TGTTTCTTGATGTTGTTTCAG 0.284000 8 3 0 0 0.038147 0 0 KLHL34 257240 broad.mit.edu 37 X 21675186 21675186 + Missense_Mutation SNP C C A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chrX:21675186C>A ENST00000379499.2 - 1 1262 c.721G>T c.(721-723)Ggc>Tgc p.G241C NM_153270.1 NP_695002.1 Q8N239 KLH34_HUMAN kelch-like family member 34 241 cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1) 26 AGCACGAGGCCAGAGCCCGAG 0.677000 9 25 9.70103e-10 1.16412e-09 0.069234 1 0 PARK2 5071 broad.mit.edu 37 6 162683677 162683677 + Nonsense_Mutation SNP C C A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr6:162683677C>A ENST00000366898.1 - 3 394 c.292G>T c.(292-294)Gag>Tag p.E98* PARK2_ENST00000366892.1_Nonsense_Mutation_p.E98*|PARK2_ENST00000338468.3_5'UTR|PARK2_ENST00000366894.1_Intron|PARK2_ENST00000366896.1_Intron|PARK2_ENST00000366897.1_Nonsense_Mutation_p.E98* NM_004562.2 NP_004553.2 O60260 PRKN2_HUMAN parkin RBR E3 ubiquitin protein ligase 98 aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 39 all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102) UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046) CTCTGGGGCTCCCGCTCACAG 0.587000 17 45 0.00074312 0.000765035 0.175082 1 0 KCNMB3 27094 broad.mit.edu 37 3 178984452 178984452 + Missense_Mutation SNP C C A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr3:178984452C>A ENST00000349697.2 - 1 307 c.47G>T c.(46-48)cGg>cTg p.R16L KCNMB3_ENST00000497599.1_Missense_Mutation_p.R16L NM_171828.1 NP_741979.1 Q9NPA1 KCMB3_HUMAN potassium large conductance calcium-activated channel, subfamily M beta member 3 0 detection of calcium ion|platelet activation|regulation of action potential in neuron voltage-gated potassium channel complex calcium-activated potassium channel activity|potassium channel regulator activity NS(1)|large_intestine(1)|lung(2)|stomach(1) 5 all_cancers(143;5.6e-17)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;2.41e-27)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.03) CTGGCGCCTCCGGCTGCCCTG 0.597000 24 31 2.89027e-11 3.5802e-11 0.069288 1 0 DOCK11 139818 broad.mit.edu 37 X 117788710 117788710 + Missense_Mutation SNP C C G TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chrX:117788710C>G ENST00000276204.6 + 43 4915 c.4841C>G c.(4840-4842)aCc>aGc p.T1614S DOCK11_ENST00000276202.7_Missense_Mutation_p.T1614S Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 1614 DHR-2. blood coagulation cytosol GTP binding breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 84 TATGCAAGCACCCCAGAGCTC 0.433000 31 80 0 0 0.064281 0 0 TTN 7273 broad.mit.edu 37 2 179478783 179478783 + Silent SNP C C T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr2:179478783C>T ENST00000589042.1 - 262 49565 c.49341G>A c.(49339-49341)caG>caA p.Q16447Q TTN_ENST00000460472.2_Silent_p.Q7382Q|TTN_ENST00000342992.6_Silent_p.Q13879Q|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Silent_p.Q7574Q|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000591111.1_Silent_p.Q14806Q|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Silent_p.Q7507Q|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 14806 Fibronectin type-III 19. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACTTACCAAACTGATATTTGG 0.343000 23 9 0 0 0.076483 0 0 KCNH4 23415 broad.mit.edu 37 17 40330942 40330942 + Missense_Mutation SNP A A G TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr17:40330942A>G ENST00000264661.3 - 2 511 c.179T>C c.(178-180)gTc>gCc p.V60A KCNH4_ENST00000607371.1_Missense_Mutation_p.V60A NM_012285.2 NP_036417.1 Q9UQ05 KCNH4_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 4 60 PAS. regulation of transcription, DNA-dependent voltage-gated potassium channel complex two-component sensor activity|voltage-gated potassium channel activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1) 32 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) CTTCTGCATGACCTCGGTGCG 0.637000 16 34 0 0 0.146539 0 0 SLCO1B1 10599 broad.mit.edu 37 12 21350088 21350088 + Silent SNP C C A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr12:21350088C>A ENST00000256958.2 + 8 1032 c.936C>A c.(934-936)acC>acA p.T312T NM_006446.4 NP_006437.3 Q9Y6L6 SO1B1_HUMAN solute carrier organic anion transporter family, member 1B1 312 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|integral to plasma membrane|membrane fraction bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 70 Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175) CTAATTTGACCAATCAAGGAA 0.323000 15 39 3.45872e-05 3.7203e-05 0.146539 1 0 NPBWR2 2832 broad.mit.edu 37 20 62737249 62737249 + Silent SNP G G A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr20:62737249G>A ENST00000369768.1 - 1 1275 c.936C>T c.(934-936)aaC>aaT p.N312N NM_005286.2 NP_005277.2 P48146 NPBW2_HUMAN neuropeptides B/W receptor 2 312 plasma membrane opioid receptor activity|protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09) AGAGGAAGGGGTTCAGGCACG 0.587000 18 39 0 0 0.055883 0 0 VSTM4 196740 broad.mit.edu 37 10 50255051 50255051 + Nonsense_Mutation SNP T T A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr10:50255051T>A ENST00000332853.3 - 7 837 c.814A>T c.(814-816)Aaa>Taa p.K272* NM_001031746.3 NP_001026916.2 Q8IW00 CJ072_HUMAN V-set and transmembrane domain containing 4 272 integral to membrane|plasma membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2) 31 CTCTGTGGTTTCAGCAGCTTC 0.468000 5 174 0 0 0.021553 0 0 SCN7A 6332 broad.mit.edu 37 2 167322306 167322306 + Missense_Mutation SNP G G C TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr2:167322306G>C ENST00000409855.1 - 7 982 c.856C>G c.(856-858)Cca>Gca p.P286A NM_002976.3 NP_002967.2 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha subunit 286 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1) 44 ATATAATATGGGTTTCCAGTT 0.393000 64 37 0 0 0.139131 0 0 KCNA5 3741 broad.mit.edu 37 12 5154798 5154798 + Silent SNP C C T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr12:5154798C>T ENST00000252321.3 + 1 1714 c.1485C>T c.(1483-1485)atC>atT p.I495I NM_002234.3 NP_002225.2 P22460 KCNA5_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 5 495 Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2) 52 GGGGCAAGATCGTGGGCTCGC 0.602000 25 79 0 0 0.083992 0 0 SLC26A7 115111 broad.mit.edu 37 8 92406489 92406489 + Missense_Mutation SNP T T C TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr8:92406489T>C ENST00000309536.2 + 19 2199 c.1979T>C c.(1978-1980)aTg>aCg p.M660T SLC26A7_ENST00000523719.1_Intron|SLC26A7_ENST00000276609.3_Intron|SLC26A7_ENST00000520249.1_Intron NM_134266.1 NP_599028.1 Q8TE54 S26A7_HUMAN solute carrier family 26 (anion exchanger), member 7 0 basolateral plasma membrane|integral to membrane|recycling endosome membrane anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 50 BRCA - Breast invasive adenocarcinoma(11;0.00802) CTTCCAACAATGCCACCGCTC 0.418000 21 34 0 0 0.069288 0 0 CCL25 6370 broad.mit.edu 37 19 8122770 8122770 + Missense_Mutation SNP G G C TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr19:8122770G>C ENST00000253451.4 + 5 514 c.408G>C c.(406-408)aaG>aaC p.K136N CCL25_ENST00000390669.3_Missense_Mutation_p.K137N NM_001201359.1|NM_005624.3 NP_001188288.1|NP_005615.2 O15444 CCL25_HUMAN chemokine (C-C motif) ligand 25 137 chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response extracellular space|soluble fraction CCR10 chemokine receptor binding|chemokine activity|hormone activity NS(1)|endometrium(1)|lung(1)|skin(1)|urinary_tract(1) 5 gcagcagtaagaggaatgtct 0.478000 45 57 0 0 0.139131 0 0 SEMA5A 9037 broad.mit.edu 37 5 9154604 9154604 + Missense_Mutation SNP G G A rs149803731 TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr5:9154604G>A ENST00000382496.5 - 12 2142 c.1477C>T c.(1477-1479)Cgc>Tgc p.R493C NM_003966.2 NP_003957.2 Q13591 SEM5A_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 493 cell adhesion|cell-cell signaling integral to membrane|plasma membrane biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 CCCTACCTGCGTGTGCGGTAG 0.617000 19 39 0 0 0.043863 0 0 SH3RF1 57630 broad.mit.edu 37 4 170017675 170017675 + Missense_Mutation SNP T T C TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr4:170017675T>C ENST00000284637.9 - 12 3003 c.2662A>G c.(2662-2664)Ata>Gta p.I888V NM_020870.3 NP_065921.2 Q7Z6J0 SH3R1_HUMAN SH3 domain containing ring finger 1 888 SH3 4. Golgi apparatus|lamellipodium|perinuclear region of cytoplasm ligase activity|zinc ion binding NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 31 Prostate(90;0.00267)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0287) TCTCCTCATATGTTTTCCACA 0.403000 31 47 0 0 0.183431 0 0 KIAA1210 57481 broad.mit.edu 37 X 118221772 118221772 + Silent SNP G G T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chrX:118221772G>T ENST00000402510.2 - 11 3420 c.3421C>A c.(3421-3423)Cgg>Agg p.R1141R NM_020721.1 NP_065772.1 Q9ULL0 K1210_HUMAN KIAA1210 1141 breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 64 ATAGCAGCCCGCTCGAAATTT 0.468000 19 78 2.37509e-13 3.04012e-13 0.055883 1 0 CPPED1 55313 broad.mit.edu 37 16 12798612 12798612 + Missense_Mutation SNP C C T rs118082950 by1000genomes TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr16:12798612C>T ENST00000381774.4 - 3 824 c.584G>A c.(583-585)cGg>cAg p.R195Q CPPED1_ENST00000433677.2_Intron|CPPED1_ENST00000261660.4_Intron NM_018340.2 NP_060810.2 Q9BRF8 CPPED_HUMAN calcineurin-like phosphoesterase domain containing 1 195 hydrolase activity|metal ion binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1) 18 CTGGCAGTGCCGCTGCCTCGC 0.602000 26 42 0 0 0.091800 0 0 U2SURP 23350 broad.mit.edu 37 3 142742816 142742816 + Splice_Site SNP G G A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr3:142742816G>A ENST00000473835.2 + 13 1320 c.e13-1 U2SURP_ENST00000493598.2_Splice_Site|U2SURP_ENST00000397933.2_Intron NM_001080415.1 NP_001073884.1 O15042 SR140_HUMAN U2 snRNP-associated SURP domain containing RNA processing nucleus nucleotide binding|RNA binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 31 TTCATATACAGACTCTGTCGC 0.303000 7 64 0 0 0.029380 0 0 SH3BGRL 6451 broad.mit.edu 37 X 80532534 80532534 + Nonsense_Mutation SNP G G T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chrX:80532534G>T ENST00000373212.5 + 2 355 c.97G>T c.(97-99)Gga>Tga p.G33* SH3BGRL_ENST00000481106.1_3'UTR NM_003022.2 NP_003013.1 O75368 SH3L1_HUMAN SH3 domain binding glutamic acid-rich protein like 33 cytoplasm|nucleus SH3 domain binding|SH3/SH2 adaptor activity endometrium(1)|lung(2)|ovary(1) 4 all_lung(315;5.94e-05) CAACAAAATAGGATTTGAAGA 0.398000 11 40 6.81908e-15 8.84637e-15 0.119110 1 0 BICD1 636 broad.mit.edu 37 12 32458869 32458869 + Missense_Mutation SNP C C T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr12:32458869C>T ENST00000548411.1 + 4 999 c.818C>T c.(817-819)gCc>gTc p.A273V BICD1_ENST00000281474.5_Missense_Mutation_p.A273V NM_001003398.1 NP_001003398.1 Q96G01 BICD1_HUMAN bicaudal D homolog 1 (Drosophila) 273 anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0201) CTCAAATTTGCCGAGGATGGG 0.448000 4 39 0 0 0.150653 0 0 DNAH5 1767 broad.mit.edu 37 5 13721172 13721172 + Nonsense_Mutation SNP A A T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr5:13721172A>T ENST00000265104.4 - 71 12320 c.12216T>A c.(12214-12216)taT>taA p.Y4072* NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4072 AAA 6 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CCATGGACACATAACGGGTTT 0.517000 Kartagener syndrome 25 62 0 0 0.083992 0 0 PRDM5 11107 broad.mit.edu 37 4 121631548 121631548 + Nonsense_Mutation SNP T T A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr4:121631548T>A ENST00000515109.1 - 13 1721 c.1465A>T c.(1465-1467)Aga>Tga p.R489* PRDM5_ENST00000506065.1_5'UTR|PRDM5_ENST00000428209.2_Silent_p.S517S|PRDM5_ENST00000264808.3_Silent_p.S548S Q9NQX1 PRDM5_HUMAN PR domain containing 5 0 histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 TGCTGCACTCTGAGCACTTGT 0.473000 9 21 0 0 0.058154 0 0 TLR4 7099 broad.mit.edu 37 9 120470933 120470933 + Silent SNP C C T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr9:120470933C>T ENST00000355622.6 + 2 287 c.186C>T c.(184-186)agC>agT p.S62S TLR4_ENST00000394487.4_Silent_p.S22S|TLR4_ENST00000472304.1_Intron NM_138554.4|NM_138557.2 NP_612564.1|NP_612567.1 O00206 TLR4_HUMAN toll-like receptor 4 62 activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 TGGACCTGAGCTTTAATCCCC 0.443000 16 121 0 0 0.160694 0 0 RERGL 79785 broad.mit.edu 37 12 18234236 18234236 + Silent SNP G G A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr12:18234236G>A ENST00000229002.2 - 6 713 c.507C>T c.(505-507)atC>atT p.I169I RERGL_ENST00000538724.1_Silent_p.I168I NM_024730.2 NP_079006.1 Q9H628 RERGL_HUMAN RERG/RAS-like 169 Small GTPase-like. signal transduction membrane GTP binding|GTPase activity p.I169M(2) endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 17 GGATGTCCTTGATAATTCTGA 0.408000 21 61 0 0 0.055883 0 0 OR6C3 254786 broad.mit.edu 37 12 55726162 55726162 + Silent SNP G G T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr12:55726162G>T ENST00000379667.1 + 1 678 c.678G>T c.(676-678)ccG>ccT p.P226P NM_054104.1 NP_473445.1 Q9NZP0 OR6C3_HUMAN olfactory receptor, family 6, subfamily C, member 3 226 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2) 11 TGAGAATCCCGTCTGCCAGTC 0.348000 41 67 1.22674e-20 1.69449e-20 0.104719 1 0 GPR119 139760 broad.mit.edu 37 X 129518602 129518602 + Missense_Mutation SNP G G C TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chrX:129518602G>C ENST00000276218.2 - 1 909 c.820C>G c.(820-822)Ctc>Gtc p.L274V NM_178471.2 NP_848566.1 Q8TDV5 GP119_HUMAN G protein-coupled receptor 119 274 integral to membrane|plasma membrane lipid binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1) 11 AGTGGGTTGAGCAGGGAGTTG 0.567000 31 64 0 0 0.153744 0 0 MYH6 4624 broad.mit.edu 37 14 23855572 23855572 + Missense_Mutation SNP C C T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr14:23855572C>T ENST00000405093.3 - 33 4981 c.4911G>A c.(4909-4911)atG>atA p.M1637I MYH6_ENST00000356287.3_Missense_Mutation_p.M1637I NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 1637 adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) CCTCGGCAGCCATGCGGTTGG 0.607000 8 79 0 0 0.105934 0 0 SPACA7 122258 broad.mit.edu 37 13 113086837 113086837 + Splice_Site SNP T T A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr13:113086837T>A ENST00000375699.3 + 5 602 c.e5+2 SPACA7_ENST00000283550.3_Splice_Site Q96KW9 SPAC7_HUMAN sperm acrosome associated 7 extracellular region large_intestine(5)|lung(4)|skin(3)|urinary_tract(1) 13 GATCTTCAGGTAGATTGGAAA 0.413000 10 16 0 0 0.093190 0 0 OR5D18 219438 broad.mit.edu 37 11 55587247 55587247 + Missense_Mutation SNP G G T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr11:55587247G>T ENST00000333976.4 + 1 162 c.142G>T c.(142-144)Gtg>Ttg p.V48L NM_001001952.1 NP_001001952.1 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, member 18 48 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_epithelial(135;0.208) TGGGTTGATTGTGATCATCAA 0.458000 27 91 1.5548e-18 2.10226e-18 0.108266 1 0 CDH19 28513 broad.mit.edu 37 18 64235938 64235938 + Missense_Mutation SNP C C G TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr18:64235938C>G ENST00000262150.2 - 3 497 c.205G>C c.(205-207)Gat>Cat p.D69H CDH19_ENST00000540086.1_Missense_Mutation_p.D69H NM_021153.2 NP_066976.1 Q9H159 CAD19_HUMAN cadherin 19, type 2 69 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7) 61 Esophageal squamous(42;0.0132) TTGTCTAAATCAGATCTTAGC 0.333000 13 45 0 0 0.132662 0 0 KRBA1 84626 broad.mit.edu 37 7 149426299 149426299 + Missense_Mutation SNP G G A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr7:149426299G>A ENST00000255992.10 + 13 2047 c.1648G>A c.(1648-1650)Gag>Aag p.E550K KRBA1_ENST00000485033.2_Intron|KRBA1_ENST00000319551.8_Intron|KRBA1_ENST00000479560.1_3'UTR NM_032534.2 NP_115923.2 A5PL33 KRBA1_HUMAN KRAB-A domain containing 1 550 breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1) 27 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) TGAGGCCTGCGAGTCAGCCGT 0.632000 4 25 0 0 0.150653 0 0 TMEM116 89894 broad.mit.edu 37 12 112374541 112374541 + Silent SNP G G A rs143338734 TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr12:112374541G>A ENST00000354825.3 - 10 922 c.267C>T c.(265-267)atC>atT p.I89I TMEM116_ENST00000549537.2_Intron|TMEM116_ENST00000550831.3_Silent_p.I89I|TMEM116_ENST00000437003.2_Silent_p.I89I|TMEM116_ENST00000355445.3_Silent_p.I146I|TMEM116_ENST00000552374.2_Silent_p.I181I Q8NCL8 TM116_HUMAN transmembrane protein 116 89 integral to membrane endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1) 8 GGAAAATGGCGATACCATAAA 0.473000 20 59 0 0 0.049695 0 0 PRDM9 56979 broad.mit.edu 37 5 23510090 23510090 + Silent SNP G G T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr5:23510090G>T ENST00000296682.3 + 4 437 c.255G>T c.(253-255)gtG>gtT p.V85V NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 85 KRAB-related. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 AACTCCAGGTGGATGACACAG 0.423000 HNSCC(3;0.000094) 15 35 0.000566183 0.000587606 0.160694 1 0 OSR2 116039 broad.mit.edu 37 8 99961349 99961349 + Missense_Mutation SNP G G T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr8:99961349G>T ENST00000297565.4 + 2 665 c.169G>T c.(169-171)Ggg>Tgg p.G57W OSR2_ENST00000522510.1_Missense_Mutation_p.G57W|OSR2_ENST00000457907.2_Missense_Mutation_p.G178W|OSR2_ENST00000435298.2_Missense_Mutation_p.G57W|OSR2_ENST00000523368.1_Missense_Mutation_p.G57W NM_001142462.1 NP_001135934.1 Q8N2R0 OSR2_HUMAN odd-skipped related transciption factor 2 57 bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Breast(36;4.14e-07) OV - Ovarian serous cystadenocarcinoma(57;0.0136) CTGGACGCTGGGGTATCCCAA 0.667000 20 58 1.01871e-10 1.24979e-10 0.049695 1 0 TGM5 9333 broad.mit.edu 37 15 43552359 43552359 + Silent SNP C C G TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr15:43552359C>G ENST00000220420.5 - 3 334 c.327G>C c.(325-327)acG>acC p.T109T TGM5_ENST00000349114.4_Intron NM_201631.3 NP_963925.2 O43548 TGM5_HUMAN transglutaminase 5 109 T -> M. epidermis development|peptide cross-linking cytoplasm acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1) 44 all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;4e-07) L-Glutamine(DB00130) CCACGGCCGCCGTGGGAGGAG 0.612000 10 100 0 0 0.080935 0 0 IGKJ2 28949 broad.mit.edu 37 2 89161063 89161063 + RNA SNP C C T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr2:89161063C>T ENST00000452230.1 - 0 12 IGKJ2_ENST00000390241.2_RNA|AC096579.7_ENST00000430694.1_RNA GGTCCCCTGGCCAAAAGTGTA 0.408000 32 83 0 0 0.183431 0 0 HK2 3099 broad.mit.edu 37 2 75107439 75107439 + Missense_Mutation SNP G G T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr2:75107439G>T ENST00000290573.2 + 10 1913 c.1313G>T c.(1312-1314)tGc>tTc p.C438F HK2_ENST00000409174.1_Missense_Mutation_p.C410F NM_000189.4 NP_000180.2 P52789 HXK2_HUMAN hexokinase 2 438 Regulatory. apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane ATP binding|glucokinase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 43 GTGCCCGGCTGCGATGTCCGC 0.627000 77 242 1.04643e-32 1.53369e-32 0.139131 1 0 MECOM 2122 broad.mit.edu 37 3 169099256 169099256 + Missense_Mutation SNP C C A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr3:169099256C>A ENST00000494292.1 - 2 191 c.94G>T c.(94-96)Gca>Tca p.A32S MECOM_ENST00000485957.1_5'UTR NM_004991.3 NP_004982.2 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus 32 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 ACTCCATCTGCATCTGGCATT 0.428000 5 64 1.23904e-05 1.34404e-05 0.014758 1 0 IMPG1 3617 broad.mit.edu 37 6 76660760 76660760 + Missense_Mutation SNP G G A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr6:76660760G>A ENST00000369950.3 - 13 1532 c.1343C>T c.(1342-1344)cCa>cTa p.P448L IMPG1_ENST00000369963.3_3'UTR NM_001563.2 NP_001554.2 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 448 visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) AAAGAAAGGTGGAGCTTCTGA 0.473000 14 49 0 0 0.146539 0 0 BIRC6 57448 broad.mit.edu 37 2 32613839 32613839 + Missense_Mutation SNP C C T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr2:32613839C>T ENST00000421745.2 + 4 801 c.667C>T c.(667-669)Ctt>Ttt p.L223F NM_016252.3 NP_057336.3 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 223 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) TACATTTCATCTTCCTCATCA 0.368000 14 41 0 0 0.146539 0 0 KLHL34 257240 broad.mit.edu 37 X 21674708 21674708 + Missense_Mutation SNP G G T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chrX:21674708G>T ENST00000379499.2 - 1 1740 c.1199C>A c.(1198-1200)cCg>cAg p.P400Q NM_153270.1 NP_695002.1 Q8N239 KLH34_HUMAN kelch-like family member 34 400 cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1) 26 GTGGAAGCGCGGGTCGTAACG 0.706000 5 14 0.000602214 0.000623316 0.014758 1 0 GPR143 4935 broad.mit.edu 37 X 9707605 9707605 + Missense_Mutation SNP G G T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chrX:9707605G>T ENST00000467482.1 - 8 1186 c.1040C>A c.(1039-1041)cCc>cAc p.P347H GPR143_ENST00000487206.1_5'UTR|GPR143_ENST00000380929.2_Missense_Mutation_p.P367H P51810 GP143_HUMAN G protein-coupled receptor 143 347 calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception apical plasma membrane|Golgi apparatus|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction dopamine binding|L-DOPA receptor activity|protein binding|tyrosine binding endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 15 Hepatocellular(5;0.000888) GTTTTCATGGGGCATCAGTGG 0.582000 9 18 0.000673444 0.000695168 0.069234 1 0 DMBT1 1755 broad.mit.edu 37 10 124336232 124336232 + Missense_Mutation SNP T T A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr10:124336232T>A ENST00000368909.3 + 7 707 c.601T>A c.(601-603)Tgc>Agc p.C201S DMBT1_ENST00000368956.2_Missense_Mutation_p.C201S|DMBT1_ENST00000330163.4_Missense_Mutation_p.C201S|DMBT1_ENST00000338354.3_Missense_Mutation_p.C201S|DMBT1_ENST00000368955.3_Missense_Mutation_p.C201S|DMBT1_ENST00000344338.3_Missense_Mutation_p.C201S|DMBT1_ENST00000359586.6_Missense_Mutation_p.C201S NM_007329.2 NP_015568.2 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 201 SRCR 1. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TGGTGTTATCTGCTCAGGTAG 0.552000 21 31 0 0 0.062417 0 0 SPACA7 122258 broad.mit.edu 37 13 113086835 113086835 + Splice_Site SNP G G A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr13:113086835G>A ENST00000375699.3 + 5 602 c.430_splice c.e5+1 p.G144_splice SPACA7_ENST00000283550.3_Splice_Site_p.G175_splice Q96KW9 SPAC7_HUMAN sperm acrosome associated 7 175 extracellular region large_intestine(5)|lung(4)|skin(3)|urinary_tract(1) 13 AAGATCTTCAGGTAGATTGGA 0.408000 11 16 0 0 0.105934 0 0 SGK2 10110 broad.mit.edu 37 20 42195737 42195737 + Silent SNP G G A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr20:42195737G>A ENST00000373100.1 + 4 526 c.66G>A c.(64-66)ctG>ctA p.L22L SGK2_ENST00000341458.4_Silent_p.L82L|SGK2_ENST00000426287.1_Silent_p.L48L|SGK2_ENST00000423407.3_Silent_p.L22L|SGK2_ENST00000373092.3_Silent_p.L22L|SGK2_ENST00000373077.1_Silent_p.L22L Q9HBY8 SGK2_HUMAN serum/glucocorticoid regulated kinase 2 82 intracellular protein kinase cascade|response to oxidative stress ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) ACATCAACCTGGGGCCTTCAG 0.537000 9 21 0 0 0.069234 0 0 ETNPPL 64850 broad.mit.edu 37 4 109681049 109681049 + Missense_Mutation SNP G G T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr4:109681049G>T ENST00000296486.3 - 3 345 c.191C>A c.(190-192)cCa>cAa p.P64Q ETNPPL_ENST00000510706.1_Missense_Mutation_p.P24Q|ETNPPL_ENST00000512646.1_Missense_Mutation_p.P6Q|ETNPPL_ENST00000411864.2_Intron NM_001146590.1|NM_031279.3 NP_001140062.1|NP_112569.2 ethanolamine-phosphate phospho-lyase GACCACTCCTGGGTGACAGTG 0.413000 10 19 9.05144e-12 1.13217e-11 0.105934 1 0 PNPT1 87178 broad.mit.edu 37 2 55894127 55894127 + Splice_Site SNP T T A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr2:55894127T>A ENST00000447944.2 - 13 1261 c.1176_splice c.e13+1 p.Q392_splice NM_033109.3 NP_149100.2 Q8TCS8 PNPT1_HUMAN polyribonucleotide nucleotidyltransferase 1 392 mRNA catabolic process|RNA processing plasma membrane 3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding p.Q392L(1) cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1) 27 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) ATAAATTACCTGTGTTTGTCC 0.318000 11 24 0 0 0.069234 0 0 NDP 4693 broad.mit.edu 37 X 43817843 43817843 + Missense_Mutation SNP C C T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chrX:43817843C>T ENST00000378062.5 - 2 456 c.49G>A c.(49-51)Gtg>Atg p.V17M NDP-AS1_ENST00000435093.1_RNA|NDP_ENST00000470584.1_Intron NM_000266.3 NP_000257.1 Q00604 NDP_HUMAN Norrie disease (pseudoglioma) 17 canonical Wnt receptor signaling pathway|cell proliferation|cell-cell signaling|nervous system development|positive regulation of transcription, DNA-dependent|sensory perception of sound|vacuole organization|visual perception extracellular matrix|extracellular space cell surface binding|frizzled binding|growth factor activity|protein homodimerization activity kidney(1)|lung(2) 3 CCCATTATCACCAGCAGGGAG 0.458000 18 24 0 0 0.175082 0 0 CDH15 1013 broad.mit.edu 37 16 89251624 89251624 + Silent SNP C C A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr16:89251624C>A ENST00000289746.2 + 5 611 c.546C>A c.(544-546)ccC>ccA p.P182P NM_004933.2 NP_004924.1 P55291 CAD15_HUMAN cadherin 15, type 1, M-cadherin (myotubule) 182 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane calcium ion binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(80;0.0261) CCGACGACCCCGAGACGGACA 0.662000 3 9 0.115264 0.116785 0.115264 1 0 DPPA4 55211 broad.mit.edu 37 3 109050598 109050598 + Missense_Mutation SNP C C A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr3:109050598C>A ENST00000335658.6 - 4 427 c.373G>T c.(373-375)Gcc>Tcc p.A125S DPPA4_ENST00000478791.1_5'UTR NM_018189.3 NP_060659.3 Q7L190 DPPA4_HUMAN developmental pluripotency associated 4 125 nucleus protein binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 TTTGGGTAGGCAAAGGCACAC 0.403000 15 132 5.3912e-06 5.91492e-06 0.175082 1 0 SSFA2 6744 broad.mit.edu 37 2 182784173 182784173 + Splice_Site SNP G G T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr2:182784173G>T ENST00000431877.2 + 14 3323 c.3144_splice c.e14+1 p.M1048_splice SSFA2_ENST00000320370.7_Splice_Site_p.M1048_splice|SSFA2_ENST00000428267.2_Splice_Site_p.M895_splice|SSFA2_ENST00000409136.1_Splice_Site_p.M557_splice|SSFA2_ENST00000409001.1_Splice_Site_p.M1048_splice|SSFA2_ENST00000467172.2_3'UTR NM_001130445.1 NP_001123917.1 P28290 SSFA2_HUMAN sperm specific antigen 2 1048 cytoplasm|plasma membrane actin binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 38 OV - Ovarian serous cystadenocarcinoma(117;0.0856) CCGCACTCATGGTACGCTACC 0.507000 56 114 1.13205e-32 1.65287e-32 0.139131 1 0 THSD7B 80731 broad.mit.edu 37 2 137852677 137852677 + Silent SNP G G A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr2:137852677G>A ENST00000409968.1 + 4 1363 c.1185G>A c.(1183-1185)ctG>ctA p.L395L THSD7B_ENST00000413152.2_Silent_p.L364L|THSD7B_ENST00000272643.3_Silent_p.L395L|THSD7B_ENST00000543459.1_Silent_p.L254L thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) GAGAACTTCTGCAGCAATGTC 0.453000 26 16 0 0 0.125774 0 0 MTMR7 9108 broad.mit.edu 37 8 17159737 17159737 + Missense_Mutation SNP A A T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr8:17159737A>T ENST00000180173.5 - 13 1580 c.1546T>A c.(1546-1548)Tca>Aca p.S516T MTMR7_ENST00000521857.1_Missense_Mutation_p.S516T|MTMR7_ENST00000398099.3_Missense_Mutation_p.S107T NM_004686.4 NP_004677.3 Q9Y216 MTMR7_HUMAN myotubularin related protein 7 516 protein tyrosine phosphatase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 32 Colorectal(111;0.112) TCTGTAACTGACTGTCGGGGC 0.453000 43 97 0 0 0.111260 0 0 FOXA1 3169 broad.mit.edu 37 14 38061468 38061468 + Missense_Mutation SNP G G A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr14:38061468G>A ENST00000250448.2 - 2 582 c.521C>T c.(520-522)tCg>tTg p.S174L FOXA1_ENST00000540786.1_Missense_Mutation_p.S141L|FOXA1_ENST00000545425.2_5'UTR NM_004496.3 NP_004487.2 P55317 FOXA1_HUMAN forkhead box A1 174 chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12) 19 Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239) GBM - Glioblastoma multiforme(112;0.0222) CGAGATGTACGAGTAGGGCGG 0.652000 27 166 0 0 0.125774 0 0 THSD7A 221981 broad.mit.edu 37 7 11676343 11676343 + Missense_Mutation SNP A A T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr7:11676343A>T ENST00000423059.3 - 2 687 c.436T>A c.(436-438)Tgc>Agc p.C146S THSD7A_ENST00000480061.1_5'UTR NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 146 integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) CCCTTAATGCACTCAAGAGGT 0.473000 HNSCC(18;0.044) 15 44 0 0 0.146539 0 0 ANKS1B 56899 broad.mit.edu 37 12 99640640 99640640 + Missense_Mutation SNP C C T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr12:99640640C>T ENST00000547776.2 - 13 1758 c.1759G>A c.(1759-1761)Gac>Aac p.D587N ANKS1B_ENST00000329257.7_Missense_Mutation_p.D587N|ANKS1B_ENST00000550833.1_5'UTR|ANKS1B_ENST00000547010.1_Missense_Mutation_p.D167N NM_152788.4 NP_690001.3 Q7Z6G8 ANS1B_HUMAN ankyrin repeat and sterile alpha motif domain containing 1B 587 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane p.D587Y(2) NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1) 70 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) CGGGAGAGGTCATCTGCAAAA 0.473000 40 113 0 0 0.098360 0 0 DIP2A 23181 broad.mit.edu 37 21 47985689 47985689 + Missense_Mutation SNP C C T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr21:47985689C>T ENST00000318711.7 + 36 4414 c.4231C>T c.(4231-4233)Cat>Tat p.H1411Y DIP2A_ENST00000400274.1_Missense_Mutation_p.H1406Y|DIP2A_ENST00000479654.1_3'UTR|DIP2A_ENST00000417564.2_Missense_Mutation_p.H1410Y NM_001146116.1|NM_015151.3 NP_001139588.1|NP_055966.2 Q14689 DIP2A_HUMAN DIP2 disco-interacting protein 2 homolog A (Drosophila) 1410 multicellular organismal development nucleus catalytic activity|transcription factor binding cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) GGAGGCGCTTCATGCCGACCA 0.582000 10 54 0 0 0.058154 0 0 WEE1 7465 broad.mit.edu 37 11 9598747 9598747 + Missense_Mutation SNP G G T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr11:9598747G>T ENST00000299613.6 + 5 1191 c.436G>T c.(436-438)Gtt>Ttt p.V146F WEE1_ENST00000450114.2_Missense_Mutation_p.V360F NM_001143976.1 NP_001137448.1 P30291 WEE1_HUMAN WEE1 G2 checkpoint kinase 360 blood coagulation|cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|S phase of mitotic cell cycle nucleoplasm ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 23 all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484) TTCTCATGTAGTTCGATATTT 0.358000 35 61 5.8336e-16 7.69795e-16 0.183431 1 0 PDGFRB 5159 broad.mit.edu 37 5 149497184 149497184 + Missense_Mutation SNP G G T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr5:149497184G>T ENST00000261799.4 - 22 3603 c.3134C>A c.(3133-3135)gCc>gAc p.A1045D NM_002609.3 NP_002600.1 P09619 PGFRB_HUMAN platelet-derived growth factor receptor, beta polypeptide 1045 aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1) 75 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) TGGTTACCTGGCTAGGCTGGG 0.632000 T """ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP""" """MPD, AML, CMML, CML""" 21 20 2.21704e-12 2.79128e-12 0.076483 1 0 NAP1L3 4675 broad.mit.edu 37 X 92928013 92928013 + Silent SNP C C T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chrX:92928013C>T ENST00000373079.3 - 1 554 c.291G>A c.(289-291)gtG>gtA p.V97V NAP1L3_ENST00000475430.1_5'UTR NM_004538.5 NP_004529.2 Q99457 NP1L3_HUMAN nucleosome assembly protein 1-like 3 97 nucleosome assembly chromatin assembly complex haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 34 GCAGCCTATCCACGAAATTTG 0.517000 13 26 0 0 0.093190 0 0 LOC440040 440040 broad.mit.edu 37 11 49598445 49598445 + RNA SNP C C G TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr11:49598445C>G ENST00000527477.1 + 0 1049 ATGTATCAGCCGTACACACAG 0.413000 13 18 0 0 0.146539 0 0 MAGEB3 4114 broad.mit.edu 37 X 30254265 30254265 + Missense_Mutation SNP T T C TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chrX:30254265T>C ENST00000361644.2 + 5 961 c.224T>C c.(223-225)gTa>gCa p.V75A MAGEB3_ENST00000378986.1_Missense_Mutation_p.V75A NM_002365.4 NP_002356.2 O15480 MAGB3_HUMAN melanoma antigen family B, 3 75 NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2) 25 ACTACATCTGTAGATGTTTCT 0.458000 12 20 0 0 0.080935 0 0 AMIGO3 386724 broad.mit.edu 37 3 49755899 49755899 + Missense_Mutation SNP C C T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr3:49755899C>T ENST00000535833.1 - 10 4450 c.1000G>A c.(1000-1002)Gac>Aac p.D334N RNF123_ENST00000433785.1_Intron|RNF123_ENST00000497099.1_3'UTR|AMIGO3_ENST00000320431.7_Missense_Mutation_p.D334N|GMPPB_ENST00000480687.1_3'UTR|RNF123_ENST00000327697.6_Intron Q86WK7 AMGO3_HUMAN adhesion molecule with Ig-like domain 3 334 Ig-like C2-type. heterophilic cell-cell adhesion integral to membrane endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1) 5 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) AAGCTGCCGTCGGCCAGCACC 0.667000 8 31 0 0 0.047766 0 0 POTEC 388468 broad.mit.edu 37 18 14542858 14542858 + Missense_Mutation SNP G G C TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr18:14542858G>C ENST00000358970.5 - 1 287 c.288C>G c.(286-288)agC>agG p.S96R POTEC_ENST00000389891.4_5'UTR NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 96 NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 TGCCCATCTTGCTCCTGAGCG 0.612000 9 206 0 0 0.160694 0 0 BAGE2 85319 broad.mit.edu 37 21 11039248 11039248 + RNA SNP C C G TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr21:11039248C>G ENST00000470054.1 - 0 955 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TTTTAGGTTCCTCTAACAACT 0.418000 9 350 0 0 0.069234 0 0 GLB1L3 112937 broad.mit.edu 37 11 134177072 134177072 + Missense_Mutation SNP G G A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr11:134177072G>A ENST00000431683.2 + 10 931 c.931G>A c.(931-933)Gga>Aga p.G311R NM_001080407.2 NP_001073876.2 Q8NCI6 GLBL3_HUMAN galactosidase, beta 1-like 3 311 carbohydrate metabolic process cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1) 13 all_hematologic(175;0.127) all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559) Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222) CGACAGATGGGGAGATAAGCA 0.433000 12 13 0 0 0.119110 0 0 ZNF626 199777 broad.mit.edu 37 19 20808036 20808036 + Missense_Mutation SNP A A T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr19:20808036A>T ENST00000601440.1 - 4 793 c.647T>A c.(646-648)cTt>cAt p.L216H CTC-513N18.7_ENST00000595094.1_lincRNA NM_001076675.2 NP_001070143.1 Q68DY1 ZN626_HUMAN zinc finger protein 626 216 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|lung(3)|skin(1) 6 ATGTCTAGTAAGGCTACAAGA 0.388000 31 35 0 0 0.069456 0 0 MAP2 4133 broad.mit.edu 37 2 210574637 210574637 + Splice_Site SNP G G T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr2:210574637G>T ENST00000360351.4 + 12 5238 c.e12-1 MAP2_ENST00000361559.4_Splice_Site|MAP2_ENST00000392194.1_Splice_Site|MAP2_ENST00000447185.1_Splice_Site|MAP2_ENST00000199940.6_Splice_Site|MAP2_ENST00000475600.1_Splice_Site NM_002374.3 NP_002365.3 P11137 MAP2_HUMAN microtubule-associated protein 2 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) TGTTAATACAGGGTCAGAGCC 0.458000 13 21 2.27111e-07 2.56502e-07 0.093190 1 0 DMD 1756 broad.mit.edu 37 X 31165577 31165577 + Missense_Mutation SNP G G T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chrX:31165577G>T ENST00000357033.4 - 75 10818 c.10612C>A c.(10612-10614)Cca>Aca p.P3538T DMD_ENST00000378707.3_Missense_Mutation_p.P1078T|DMD_ENST00000343523.2_Missense_Mutation_p.P968T|DMD-AS1_ENST00000481143.1_RNA|DMD_ENST00000361471.4_Missense_Mutation_p.P457T|DMD_ENST00000359836.1_Missense_Mutation_p.P1065T|DMD_ENST00000474231.1_Missense_Mutation_p.P1078T|DMD_ENST00000378723.3_Missense_Mutation_p.P470T|DMD_ENST00000378677.2_Missense_Mutation_p.P3534T|DMD_ENST00000378702.4_Missense_Mutation_p.P470T|DMD_ENST00000378680.2_Missense_Mutation_p.P360T|DMD_ENST00000541735.1_Missense_Mutation_p.P968T NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 3538 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) GACGGCAGTGGGGACAGGCCT 0.493000 11 28 4.68919e-08 5.37507e-08 0.069234 1 0 PEX1 5189 broad.mit.edu 37 7 92147348 92147348 + Missense_Mutation SNP T T C TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr7:92147348T>C ENST00000248633.4 - 5 576 c.481A>G c.(481-483)Ata>Gta p.I161V PEX1_ENST00000438045.1_Intron|PEX1_ENST00000428214.1_Missense_Mutation_p.I161V NM_000466.2 NP_000457.1 O43933 PEX1_HUMAN peroxisomal biogenesis factor 1 161 microtubule-based peroxisome localization|protein import into peroxisome matrix cytosol|nucleus|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592) Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123) GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) GCAGCTGGTATTAGTGCAACT 0.393000 14 33 0 0 0.119110 0 0 LHX8 431707 broad.mit.edu 37 1 75622595 75622595 + Silent SNP T T C TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr1:75622595T>C ENST00000294638.5 + 9 1492 c.828T>C c.(826-828)tgT>tgC p.C276C LHX8_ENST00000356261.3_Silent_p.C266C NM_001001933.1 NP_001001933.1 Q68G74 LHX8_HUMAN LIM homeobox 8 276 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1) 30 TTCAGAATTGTAGAGCACGCC 0.473000 42 43 0 0 0.139131 0 0 PHKA2 5256 broad.mit.edu 37 X 18911701 18911701 + Missense_Mutation SNP C C A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chrX:18911701C>A ENST00000379942.4 - 33 4275 c.3610G>T c.(3610-3612)Gct>Tct p.A1204S PHKA2-AS1_ENST00000452900.1_RNA|PHKA2-AS1_ENST00000439295.1_RNA|PHKA2_ENST00000481718.1_5'UTR NM_000292.2 NP_000283.1 P46019 KPB2_HUMAN phosphorylase kinase, alpha 2 (liver) 1204 glucose metabolic process|glycogen catabolic process cytosol|phosphorylase kinase complex|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Hepatocellular(33;0.183) CCACTCGGAGCGCTGTCATAA 0.522000 59 164 3.39796e-24 4.85062e-24 0.139131 1 0 MGMT 4255 broad.mit.edu 37 10 131565234 131565234 + Silent SNP G G A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr10:131565234G>A ENST00000306010.7 + 5 722 c.690G>A c.(688-690)tcG>tcA p.S230S NM_002412.3 NP_002403.2 B4DEE8 B4DEE8_HUMAN O-6-methylguanine-DNA methyltransferase 230 breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 10 all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167) OV - Ovarian serous cystadenocarcinoma(35;0.00291) GAGCTACCTCGGGCTCCCCGC 0.632000 Direct reversal of damage 15 17 0 0 0.043863 0 0 SV2B 9899 broad.mit.edu 37 15 91835755 91835755 + Silent SNP A A G TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr15:91835755A>G ENST00000394232.1 + 13 2495 c.2025A>G c.(2023-2025)ccA>ccG p.P675P SV2B_ENST00000330276.4_Silent_p.P675P|SV2B_ENST00000545111.2_Silent_p.P524P NM_014848.4 NP_055663.1 Q7L1I2 SV2B_HUMAN synaptic vesicle glycoprotein 2B 675 neurotransmitter transport acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 42 Lung NSC(78;0.0987)|all_lung(78;0.172) BRCA - Breast invasive adenocarcinoma(143;0.0895) TTCGACTGCCAGAGACTCGAG 0.507000 8 60 0 0 0.047766 0 0 SYNE1 23345 broad.mit.edu 37 6 152658020 152658020 + Missense_Mutation SNP C C T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr6:152658020C>T ENST00000367255.5 - 76 13085 c.12484G>A c.(12484-12486)Gag>Aag p.E4162K SYNE1_ENST00000265368.4_Missense_Mutation_p.E4162K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E4091K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E4027K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E4091K NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 4162 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) AGCTCCAGCTCAGAGTGCCTC 0.473000 HNSCC(10;0.0054) 22 104 0 0 0.076483 0 0 C3 718 broad.mit.edu 37 19 6693060 6693060 + Missense_Mutation SNP C C G TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr19:6693060C>G ENST00000245907.6 - 26 3357 c.3265G>C c.(3265-3267)Gct>Cct p.A1089P NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 1089 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) AGGTTGACAGCCAGAGAGAAG 0.587000 28 177 0 0 0.116897 0 0 DOCK9 23348 broad.mit.edu 37 13 99449735 99449735 + Silent SNP A A G TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr13:99449735A>G ENST00000376460.1 - 54 6047 c.5967T>C c.(5965-5967)gcT>gcC p.A1989A DOCK9_ENST00000339416.2_Silent_p.A1976A NM_001130048.1|NM_015296.2 NP_001123520.1|NP_056111.1 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 1990 DHR-2. blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CTAGTGGGCCAGCATTGACCT 0.423000 7 8 0 0 0.029380 0 0 SLC22A1 6580 broad.mit.edu 37 6 160543205 160543205 + Missense_Mutation SNP G G T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr6:160543205G>T ENST00000366963.4 + 1 385 c.238G>T c.(238-240)Gcg>Tcg p.A80S SLC22A1_ENST00000324965.4_Missense_Mutation_p.A80S|SLC22A1_ENST00000457470.2_Missense_Mutation_p.A80S NM_003057.2|NM_153187.1 NP_003048.1|NP_694857.1 O15245 S22A1_HUMAN solute carrier family 22 (organic cation transporter), member 1 80 basolateral plasma membrane|integral to plasma membrane|membrane fraction organic cation transmembrane transporter activity|protein binding SLC22A1/CUTA(2) breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1) 21 Breast(66;0.000776)|Ovarian(120;0.00556) OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06) CCTGGGGCCCGCGGGCGAGGC 0.662000 24 83 2.21704e-12 2.79128e-12 0.076483 1 0 PCDHGA2 56113 broad.mit.edu 37 5 140719024 140719024 + Silent SNP A A T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr5:140719024A>T ENST00000394576.2 + 1 486 c.486A>T c.(484-486)gtA>gtT p.V162V 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) ATGCAGACGTAGGTGAGAACG 0.522000 30 33 0 0 0.134883 0 0 PRR23B 389151 broad.mit.edu 37 3 138739052 138739052 + Missense_Mutation SNP T T A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr3:138739052T>A ENST00000329447.5 - 1 716 c.452A>T c.(451-453)cAg>cTg p.Q151L MRPS22_ENST00000495075.1_Intron NM_001013650.2 NP_001013672.1 Q6ZRT6 PR23B_HUMAN proline rich 23B 151 NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GGCCTCTTCCTGGGCGGCGAT 0.652000 19 110 0 0 0.049695 0 0 GLI2 2736 broad.mit.edu 37 2 121728127 121728127 + Missense_Mutation SNP A A G TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr2:121728127A>G ENST00000452319.1 + 7 1064 c.1004A>G c.(1003-1005)aAt>aGt p.N335S GLI2_ENST00000314490.11_Missense_Mutation_p.N7S|GLI2_ENST00000361492.4_Missense_Mutation_p.N335S|GLI2_ENST00000435313.2_3'UTR P10070 GLI2_HUMAN GLI family zinc finger 2 335 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) ACCTCCATCAATGCCACGCCC 0.637000 19 70 0 0 0.049695 0 0 COL4A5 1287 broad.mit.edu 37 X 107802347 107802347 + Silent SNP A A C TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chrX:107802347A>C ENST00000328300.6 + 3 439 c.195A>C c.(193-195)ccA>ccC p.P65P COL4A5_ENST00000361603.2_Silent_p.P65P NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 65 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 CTGGATTTCCAGGTCCAGAAG 0.463000 Alport syndrome with Diffuse Leiomyomatosis 21 89 0 0 0.076483 0 0 COL6A6 131873 broad.mit.edu 37 3 130327809 130327809 + Splice_Site SNP G G T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr3:130327809G>T ENST00000358511.6 + 21 4783 c.e21+1 COL6A6_ENST00000453409.2_Splice_Site NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 GGGCCCTCAGGTACATATCAA 0.463000 9 50 1.12685e-05 1.22929e-05 0.047766 1 0 FGF6 2251 broad.mit.edu 37 12 4554546 4554546 + Missense_Mutation SNP C C A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr12:4554546C>A ENST00000228837.2 - 1 234 c.191G>T c.(190-192)gGg>gTg p.G64V NM_020996.1 NP_066276.2 P10767 FGF6_HUMAN fibroblast growth factor 6 64 angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation extracellular space growth factor activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229) TCCAGCTAGCCCGGCGCGAGA 0.647000 21 79 1.77063e-15 2.3285e-15 0.108266 1 0 EYA4 2070 broad.mit.edu 37 6 133846378 133846378 + Missense_Mutation SNP C C A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr6:133846378C>A ENST00000367895.5 + 19 2289 c.1825C>A c.(1825-1827)Cag>Aag p.Q609K EYA4_ENST00000430974.2_Intron|EYA4_ENST00000531901.1_Missense_Mutation_p.Q615K|EYA4_ENST00000355167.3_Intron|EYA4_ENST00000355286.6_Missense_Mutation_p.Q586K|EYA4_ENST00000525849.1_Intron|EYA4_ENST00000452339.2_Intron|RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000431403.2_Intron NM_004100.4 NP_004091.3 O95677 EYA4_HUMAN eyes absent homolog 4 (Drosophila) 609 anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1) 48 Colorectal(23;0.221) GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152) AGAAGAAGAACAGGCAGCAAA 0.393000 18 34 4.35082e-09 5.12489e-09 0.055883 1 0 ARSI 340075 broad.mit.edu 37 5 149677228 149677228 + Missense_Mutation SNP C C T rs147847092 TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr5:149677228C>T ENST00000328668.7 - 2 1838 c.1259G>A c.(1258-1260)cGc>cAc p.R420H NM_001012301.2 NP_001012301.1 Q5FYB1 ARSI_HUMAN arylsulfatase family, member I 420 endoplasmic reticulum|extracellular region arylsulfatase activity|metal ion binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 23 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CTCACCCACGCGGATGGCAGC 0.622000 15 45 0 0 0.160694 0 0 NARS 4677 broad.mit.edu 37 18 55274528 55274528 + Missense_Mutation SNP C C T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr18:55274528C>T ENST00000256854.5 - 9 1294 c.839G>A c.(838-840)gGt>gAt p.G280D NARS_ENST00000423481.2_Missense_Mutation_p.G31D NM_004539.3 NP_004530.1 O43776 SYNC_HUMAN asparaginyl-tRNA synthetase 280 asparaginyl-tRNA aminoacylation cytosol|soluble fraction asparagine-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding breast(1)|endometrium(5)|large_intestine(5)|lung(8)|skin(1) 20 Colorectal(73;0.227) L-Asparagine(DB00174) TGTGGCACCACCTTCTACTTG 0.438000 28 58 0 0 0.134883 0 0 ZNF667 63934 broad.mit.edu 37 19 56953604 56953604 + Nonsense_Mutation SNP G G A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr19:56953604G>A ENST00000504904.3 - 7 1479 c.760C>T c.(760-762)Cag>Tag p.Q254* ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000342634.3_Nonsense_Mutation_p.Q382*|ZNF667_ENST00000292069.6_Nonsense_Mutation_p.Q254* Q5HYK9 ZN667_HUMAN zinc finger protein 667 254 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 38 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0615) TTTCTGCACTGGCAGACATTC 0.358000 23 118 0 0 0.108266 0 0 CNOT1 23019 broad.mit.edu 37 16 58608535 58608535 + Missense_Mutation SNP C C A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr16:58608535C>A ENST00000317147.5 - 16 2289 c.1957G>T c.(1957-1959)Gcc>Tcc p.A653S CNOT1_ENST00000441024.2_Missense_Mutation_p.A653S|CNOT1_ENST00000569240.1_Missense_Mutation_p.A653S NM_001265612.1|NM_016284.4 NP_001252541.1|NP_057368.3 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 653 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 87 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) TGCAGACAGGCCAACATTGTC 0.418000 23 64 6.36457e-07 7.12535e-07 0.091800 1 0 HR 55806 broad.mit.edu 37 8 21973246 21973246 + Silent SNP C C T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr8:21973246C>T ENST00000381418.4 - 19 5017 c.3537G>A c.(3535-3537)aaG>aaA p.K1179K HR_ENST00000312841.8_Silent_p.K1124K NM_005144.4 NP_005135.2 O43593 HAIR_HUMAN hair growth associated 1179 DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 27 Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116) KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) CCACGGCCACCTTCACTGCTT 0.562000 7 30 0 0 0.029380 0 0 IGKV1-5 28299 broad.mit.edu 37 2 89246836 89246836 + RNA SNP G G T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr2:89246836G>T ENST00000496168.1 - 0 514 CTATTATACTGTTGGCAGTAA 0.522000 20 70 3.8784e-16 5.13554e-16 0.062417 1 0 SYNE2 23224 broad.mit.edu 37 14 64630217 64630217 + Missense_Mutation SNP T T A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr14:64630217T>A ENST00000357395.3 + 90 16696 c.5552T>A c.(5551-5553)aTg>aAg p.M1851K SYNE2_ENST00000555002.1_Missense_Mutation_p.M2100K|SYNE2_ENST00000394768.2_Missense_Mutation_p.M1851K|SYNE2_ENST00000554584.1_Missense_Mutation_p.M5383K|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000358025.3_Missense_Mutation_p.M5466K|SYNE2_ENST00000344113.4_Missense_Mutation_p.M5466K Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 5466 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) AGCACCCACATGCTCCTCCCG 0.502000 15 51 0 0 0.160694 0 0 SEMA5B 54437 broad.mit.edu 37 3 122646688 122646688 + Missense_Mutation SNP C C T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr3:122646688C>T ENST00000195173.4 - 8 1102 c.799G>A c.(799-801)Ggc>Agc p.G267S SEMA5B_ENST00000357599.3_Missense_Mutation_p.G267S|SEMA5B_ENST00000451055.2_Missense_Mutation_p.G321S Q9P283 SEM5B_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B 267 Sema. cell differentiation|nervous system development integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3) 55 GBM - Glioblastoma multiforme(114;0.0367) GGCCCACTGCCCAGGCTGCGG 0.617000 51 45 0 0 0.139131 0 0 OR2M2 391194 broad.mit.edu 37 1 248343753 248343753 + Frame_Shift_Del DEL G G - TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr1:248343753delG ENST00000359682.2 + 1 466 c.466delG c.(466-468)gafs p.G156fs NM_001004688.1 NP_001004688.1 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, member 2 156 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3) 70 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) CTCTACAGATGGAATCATTGA 0.433 87 268 --- --- --- --- MFSD9 84804 broad.mit.edu 37 2 103335456 103335457 + Frame_Shift_Ins INS - - A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr2:103335456_103335457insA ENST00000258436.5 - 6 890_891 c.847_848insT c.(847-849)cgafs p.R283fs NM_032718.3 NP_116107.3 Q8NBP5 MFSD9_HUMAN major facilitator superfamily domain containing 9 283 transmembrane transport integral to membrane|plasma membrane transporter activity breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1) 20 CCACATTTCGGAAAACAGCAGG 0.574 20 77 --- --- --- --- CNTN4 152330 broad.mit.edu 37 3 3080618 3080618 + Splice_Site DEL C C - TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr3:3080618delC ENST00000397461.1 + 18 2478 c.2092_splice c.e18-1 p.L698_splice CNTN4_ENST00000418658.1_Splice_Site_p.L698_splice|CNTN4_ENST00000448906.2_Splice_Site_p.L370_splice|CNTN4_ENST00000358480.3_Splice_Site_p.L479_splice|CNTN4_ENST00000397459.2_Splice_Site_p.L370_splice|CNTN4_ENST00000427331.1_Splice_Site_p.L698_splice NM_001206955.1 NP_001193884.1 Q8IWV2 CNTN4_HUMAN contactin 4 698 axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) CTTGTGCAGTCCCCGAAGTCA 0.498 12 29 --- --- --- --- GOLIM4 27333 broad.mit.edu 37 3 167742786 167742786 + Frame_Shift_Del DEL G G - TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr3:167742786delG ENST00000470487.1 - 13 2410 c.1721delC c.(1720-1722)cafs p.P574fs GOLIM4_ENST00000309027.4_Frame_Shift_Del_p.P546fs NM_014498.3 NP_055313.1 O00461 GOLI4_HUMAN golgi integral membrane protein 4 574 Glu-rich. transport cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 ATTTTCATCTGGCAAATTTTC 0.418 110 111 --- --- --- --- ATP13A4 84239 broad.mit.edu 37 3 193153532 193153532 + Splice_Site DEL C C - TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr3:193153532delC ENST00000342695.4 - 24 2996 c.2672_splice c.e24-1 p.E892_splice ATP13A4_ENST00000392443.3_Splice_Site_p.E873_splice NM_032279.2 NP_115655.2 Q4VNC1 AT134_HUMAN ATPase type 13A4 892 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) GCACGTCCTTCCCTGTGTAAG 0.403 26 112 --- --- --- --- ANK2 287 broad.mit.edu 37 4 114278600 114278601 + Frame_Shift_Ins INS - - A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr4:114278600_114278601insA ENST00000357077.4 + 38 8879_8880 c.8826_8827insA c.(8824-8829)agaaacfs p.N2943fs ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Frame_Shift_Ins_p.N2910fs NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 2910 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) GTGAAGAAAGCAAAACCCAAAC 0.416 77 110 --- --- --- --- RP11-242J7.1 0 broad.mit.edu 37 4 185536410 185536413 + RNA DEL TTTG TTTG - rs146473442 TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr4:185536410_185536413delTTTG ENST00000522554.1 - 0 292 CAAAGCCGATtttgtttgtttgtt 0.451 5 4 --- --- --- --- BAI3 577 broad.mit.edu 37 6 70042897 70042897 + Frame_Shift_Del DEL C C - TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr6:70042897delC ENST00000370598.1 + 24 4006 c.3185delC c.(3184-3186)gcfs p.A1062fs BAI3_ENST00000238918.8_Frame_Shift_Del_p.A268fs|BAI3_ENST00000546190.1_Frame_Shift_Del_p.A26fs NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1062 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) AAACACAGAGCCGGGTAAGCT 0.388 16 28 --- --- --- --- VNN1 8876 broad.mit.edu 37 6 133015242 133015242 + Frame_Shift_Del DEL C C - TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr6:133015242delC ENST00000367928.4 - 3 434 c.421delG c.(421-423)acfs p.D141fs NM_004666.2 NP_004657.2 O95497 VNN1_HUMAN vanin 1 141 CN hydrolase. acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress anchored to membrane|integral to membrane|plasma membrane GPI anchor binding|pantetheine hydrolase activity NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1) 31 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189) GGCTTCTTGTCCCCAATATTT 0.468 35 78 --- --- --- --- TBP 6908 broad.mit.edu 37 6 170871013 170871014 + In_Frame_Ins INS - - CAG rs72320253 TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr6:170871013_170871014insCAG ENST00000392092.2 + 3 468_469 c.189_190insCAG c.(187-192)caagca>caCAGagca p.63_63Q>HR TBP_ENST00000230354.6_In_Frame_Ins_p.63_63Q>HR|TBP_ENST00000540980.1_In_Frame_Ins_p.43_43Q>HR NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 63 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding p.Q63_Q64insQ(1)|p.Q63Q(1) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcaacaacaacagcagcagca 0.550 14 42 --- --- --- --- NOTCH1 4851 broad.mit.edu 37 9 139413070 139413072 + In_Frame_Del DEL AGA AGA - TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr9:139413070_139413072delAGA ENST00000277541.6 - 6 1145_1147 c.1070_1072delTCT c.(1069-1074)tac>t p.FY357del NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 357 EGF-like 9; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity p.F357delF(4) breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) CACTCGCAGTAGAAGGAGGCCAC 0.655 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 21 20 --- --- --- --- HPSE2 60495 broad.mit.edu 37 10 100481543 100481543 + Frame_Shift_Del DEL C C - TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr10:100481543delC ENST00000370552.3 - 5 886 c.827delG c.(826-828)gcfs p.G276fs HPSE2_ENST00000404542.1_Frame_Shift_Del_p.G164fs|HPSE2_ENST00000370546.1_Frame_Shift_Del_p.G276fs|HPSE2_ENST00000370549.1_Frame_Shift_Del_p.G218fs NM_021828.4 NP_068600.4 Q8WWQ2 HPSE2_HUMAN heparanase 2 276 carbohydrate metabolic process intracellular|membrane cation binding|heparanase activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 40 Epithelial(162;1.8e-09)|all cancers(201;4.72e-07) CAACTGGCTGCCATTTACTGC 0.483 24 32 --- --- --- --- OR8U1 219417 broad.mit.edu 37 11 56143856 56143856 + Frame_Shift_Del DEL G G - TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr11:56143856delG ENST00000302270.1 + 1 757 c.757delG c.(757-759)ggfs p.G253fs NM_001005204.1 NP_001005204.1 olfactory receptor, family 8, subfamily U, member 1 NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1) 39 Esophageal squamous(21;0.00448) CATATTCTATGGGACCCTCAT 0.483 44 77 --- --- --- --- SLC2A13 114134 broad.mit.edu 37 12 40223995 40223995 + Frame_Shift_Del DEL C C - TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr12:40223995delC ENST00000280871.4 - 7 1405 c.1355delG c.(1354-1356)gtfs p.G452fs NM_052885.3 NP_443117.3 Q96QE2 MYCT_HUMAN solute carrier family 2 (facilitated glucose transporter), member 13 452 integral to membrane|plasma membrane myo-inositol:hydrogen symporter activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 29 Lung NSC(34;0.105)|all_lung(34;0.123) GTAGCAGAAACCGCAGTCTGG 0.418 HNSCC(50;0.14) 11 56 --- --- --- --- KMT2D 8085 broad.mit.edu 37 12 49444035 49444045 + Frame_Shift_Del DEL CAGGGCTGGGG CAGGGCTGGGG - TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr12:49444035_49444045delCAGGGCTGGGG ENST00000301067.7 - 11 3325_3335 c.3326_3336delCCCCAGCCCTG c.(3325-3336)gfs p.APAL1109fs NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D p.P1110L(1)|p.P837L(1) AGAAGTCATCCAGGGCTGGGGCAGGGCTGGG 0.616 8 15 --- --- --- --- IGHV2-26 28455 broad.mit.edu 37 14 106757939 106757939 + RNA DEL A A - TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr14:106757939delA ENST00000390611.2 - 0 91 AGACTCCTTCAAGGTGACCTG 0.532 14 38 --- --- --- --- UBE2Q2P1 388165 broad.mit.edu 37 15 85077360 85077360 + RNA DEL A A - TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr15:85077360delA ENST00000339094.1 - 0 1678 NR_003661.2 tttttaaactaaaaaaaaaaa 0.373 4 5 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7579494 7579495 + Frame_Shift_Ins INS - - G TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr17:7579494_7579495insG ENST00000420246.2 - 4 324_325 c.192_193insC c.(190-195)ccgaatfs p.N65fs TP53_ENST00000413465.2_Frame_Shift_Ins_p.N65fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.N65fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.N65fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.N65fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.N65fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 65 Interaction with HRMT1L2. R -> T (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R65*(11)|p.0?(8)|p.R65fs*84(3)|p.G59fs*23(3)|p.D48fs*55(1)|p.R65_P71delRMPEAAP(1)|p.P13fs*18(1)|p.R65fs*38(1)|p.D57_A76del20(1)|p.S33fs*23(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TCTGGCATTCTGGGAGCTTCAT 0.614 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 150 119 --- --- --- --- KRT17 3872 broad.mit.edu 37 17 39780380 39780381 + Frame_Shift_Ins INS - - G TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr17:39780380_39780381insG ENST00000311208.8 - 1 448_449 c.381_382insC c.(379-384)cccccgfs p.PP127fs JUP_ENST00000540235.1_Intron NM_000422.2 NP_000413.1 Q04695 K1C17_HUMAN keratin 17 127 Linker 1.|Rod. epidermis development cytoplasm|intermediate filament protein binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1) 12 Breast(137;0.000307) TAGTCACGGGCGGGCCCCGGGG 0.644 14 207 --- --- --- --- HNRNPM 4670 broad.mit.edu 37 19 8551028 8551029 + Frame_Shift_Ins INS - - G TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr19:8551028_8551029insG ENST00000348943.3 + 15 1831_1832 c.1599_1600insG c.(1597-1602)ggccaafs p.Q534fs HNRNPM_ENST00000325495.4_Frame_Shift_Ins_p.Q573fs NM_031203.3 NP_112480.2 P52272 HNRPM_HUMAN heterogeneous nuclear ribonucleoprotein M 573 27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV]. alternative nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles nucleotide binding|protein domain specific binding|RNA binding endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1) 25 AGCGCATGGGCGCCAACAGCCT 0.713 35 130 --- --- --- --- ZNF808 388558 broad.mit.edu 37 19 53056767 53056767 + Frame_Shift_Del DEL C C - TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr19:53056767delC ENST00000359798.4 + 5 778 c.598delC c.(598-600)ccfs p.P200fs NM_001039886.3 NP_001034975.2 Q8N4W9 ZN808_HUMAN zinc finger protein 808 200 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(8)|kidney(3)|lung(12)|urinary_tract(1) 24 OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213) TTCCTGTAGGCCCCAAATCCA 0.378 105 148 --- --- --- --- MIR527 574497 broad.mit.edu 37 19 54257292 54257292 + RNA DEL G G - TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chr19:54257292delG ENST00000385244.1 + 0 21 NR_030219.1 TGACTGCAAAGGGAAGCCCTT 0.413 61 224 --- --- --- --- TSPYL2 64061 broad.mit.edu 37 X 53114157 53114157 + Frame_Shift_Del DEL C C - TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx e62a2c4d-18e3-4ec8-8d93-40e055e65be4 ed345984-cb10-45e5-8684-460ae7e7e84b g.chrX:53114157delC ENST00000375442.4 + 4 1151 c.1019delC c.(1018-1020)acfs p.T340fs NM_022117.3 NP_071400.1 Q9H2G4 TSYL2_HUMAN TSPY-like 2 340 cell cycle|chromatin modification|negative regulation of cell cycle|negative regulation of cell growth|negative regulation of DNA replication|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus protein binding|rDNA binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1) 19 TCTCACTCAACCCCAATCCGC 0.577 48 91 --- --- --- ---