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 ZNF208 7757 broad.mit.edu 37 19 22155896 22155896 + Missense_Mutation SNP A A C TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 fabbba2f-92b0-48b5-be7a-e4c9fc08b795 g.chr19:22155896A>C ENST00000397126.4 - 4 2088 c.1940T>G c.(1939-1941)aTt>aGt p.I647S ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) TGAGACCTTAATAAAGGTTTT 0.398000 5 87 0 0 1 0 0 SPTBN2 6712 broad.mit.edu 37 11 66460020 66460020 + Missense_Mutation SNP T T C TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 fabbba2f-92b0-48b5-be7a-e4c9fc08b795 g.chr11:66460020T>C ENST00000533211.1 - 26 5508 c.5177A>G c.(5176-5178)tAc>tGc p.Y1726C SPTBN2_ENST00000529997.1_Missense_Mutation_p.Y1726C|SPTBN2_ENST00000309996.2_Missense_Mutation_p.Y1726C O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 1726 actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 74 CACATGCTCGTAGTCCTGGCC 0.647000 3 109 0 0 1 0 0 USP35 57558 broad.mit.edu 37 11 77924826 77924826 + Silent SNP C C T TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 fabbba2f-92b0-48b5-be7a-e4c9fc08b795 g.chr11:77924826C>T ENST00000529308.1 + 11 3285 c.3024C>T c.(3022-3024)ggC>ggT p.G1008G USP35_ENST00000530267.1_Silent_p.G576G|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000526425.1_Silent_p.G739G|USP35_ENST00000441408.2_Silent_p.G594G NM_020798.2 NP_065849.1 Q9P2H5 UBP35_HUMAN ubiquitin specific peptidase 35 1008 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1) 23 all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.04e-25) CTGCAGGTGGCAATGGTGGTG 0.582000 4 74 0 0 1 0 0 ASMT 438 broad.mit.edu 37 X 1755354 1755354 + Missense_Mutation SNP C C T TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 fabbba2f-92b0-48b5-be7a-e4c9fc08b795 g.chrX:1755354C>T ENST00000381241.3 + 8 1010 c.811C>T c.(811-813)Ccg>Tcg p.P271S ASMT_ENST00000381229.4_Missense_Mutation_p.P243S|ASMT_ENST00000381233.3_Missense_Mutation_p.P196S|RP13-297E16.3_ENST00000509780.1_RNA NM_001171038.1|NM_004043.2 NP_001164509.1|NP_004034.2 P46597 HIOM_HUMAN acetylserotonin O-methyltransferase 243 melatonin biosynthetic process|translation cytosol acetylserotonin O-methyltransferase activity|S-methyltransferase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1) 16 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) AGACCCTCTTCCGGAAGCTGA 0.542000 17 267 0 0 1 0 0 FADS1 3992 broad.mit.edu 37 11 61574167 61574167 + Silent SNP C C T TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 fabbba2f-92b0-48b5-be7a-e4c9fc08b795 g.chr11:61574167C>T ENST00000350997.7 - 6 1177 c.945G>A c.(943-945)ccG>ccA p.P315P FADS1_ENST00000542506.1_Silent_p.P174P|FADS2_ENST00000574708.1_Intron|FADS1_ENST00000433932.1_Silent_p.P174P NM_013402.4 NP_037534.3 O60427 FADS1_HUMAN fatty acid desaturase 1 258 cell-cell signaling|cellular response to starvation|electron transport chain|icosanoid biosynthetic process|phospholipid biosynthetic process|regulation of cell differentiation|regulation of transcription, DNA-dependent|transport endoplasmic reticulum membrane|integral to membrane|microsome C-5 sterol desaturase activity|heme binding|protein binding central_nervous_system(1)|endometrium(1)|lung(1)|urinary_tract(1) 4 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) GGTGGTTGTACGGCATATATT 0.483000 20 110 0 0 1 0 0 PRKG2 5593 broad.mit.edu 37 4 82064095 82064095 + Silent SNP G G A TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 fabbba2f-92b0-48b5-be7a-e4c9fc08b795 g.chr4:82064095G>A ENST00000395578.1 - 11 1376 c.1260C>T c.(1258-1260)tcC>tcT p.S420S PRKG2_ENST00000264399.1_Silent_p.S420S|PRKG2_ENST00000418486.2_Silent_p.S420S|PRKG2_ENST00000545647.1_5'UTR|PRKG2_ENST00000509169.1_5'UTR Q13237 KGP2_HUMAN protein kinase, cGMP-dependent, type II 420 platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2) 37 AGTTAGACATGGACCGCCTGT 0.438000 13 69 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625875 29625875 + Missense_Mutation SNP T T C rs143761036 by1000genomes TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 fabbba2f-92b0-48b5-be7a-e4c9fc08b795 g.chr20:29625875T>C ENST00000278882.3 + 5 499 c.119T>C c.(118-120)aTc>aCc p.I40T FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T p.I40T(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGTACAGAATCGCCCTGAAA 0.358000 6 58 0 0 1 0 0 SLC25A26 115286 broad.mit.edu 37 3 66428192 66428192 + Silent SNP G G A rs147162139 TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 fabbba2f-92b0-48b5-be7a-e4c9fc08b795 g.chr3:66428192G>A ENST00000354883.6 + 11 1514 c.786G>A c.(784-786)acG>acA p.T262T SLC25A26_ENST00000336733.5_Silent_p.T174T|SLC25A26_ENST00000536651.1_3'UTR Q70HW3 SAMC_HUMAN solute carrier family 25 (S-adenosylmethionine carrier), member 26 262 integral to membrane|mitochondrial inner membrane|nucleus S-adenosylmethionine transmembrane transporter activity endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)|stomach(2)|urinary_tract(1) 8 Lung NSC(201;0.00774) BRCA - Breast invasive adenocarcinoma(55;0.00046)|KIRC - Kidney renal clear cell carcinoma(15;0.0515)|Kidney(15;0.0648) ATGACCGAACGCACAGCTTGC 0.502000 4 198 0 0 1 0 0 ZNF785 146540 broad.mit.edu 37 16 30594188 30594188 + Missense_Mutation SNP C C A TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 fabbba2f-92b0-48b5-be7a-e4c9fc08b795 g.chr16:30594188C>A ENST00000395216.2 - 3 1070 c.911G>T c.(910-912)cGc>cTc p.R304L AC002310.7_ENST00000492040.1_RNA|AC002310.7_ENST00000486926.1_RNA|ZNF785_ENST00000470110.1_Missense_Mutation_p.R289L NM_152458.6 NP_689671.2 A8K8V0 ZN785_HUMAN zinc finger protein 785 304 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 9 GGTGTGTATGCGCCTGTGGAT 0.647000 3 47 0.000602214 0.00061967 1 1 0 TEX15 56154 broad.mit.edu 37 8 30701810 30701810 + Missense_Mutation SNP G G A TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 fabbba2f-92b0-48b5-be7a-e4c9fc08b795 g.chr8:30701810G>A ENST00000256246.2 - 1 4798 c.4724C>T c.(4723-4725)aCg>aTg p.T1575M NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 1575 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) TAAAATAGGCGTATGATTAAC 0.388000 9 104 0 0 1 0 0 MMP14 4323 broad.mit.edu 37 14 23312555 23312555 + Missense_Mutation SNP T T C TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 fabbba2f-92b0-48b5-be7a-e4c9fc08b795 g.chr14:23312555T>C ENST00000311852.6 + 5 1039 c.778T>C c.(778-780)Ttt>Ctt p.F260L MMP14_ENST00000548162.1_3'UTR NM_004995.2 NP_004986.1 P50281 MMP14_HUMAN matrix metallopeptidase 14 (membrane-inserted) 260 extracellular matrix|integral to plasma membrane|melanosome calcium ion binding|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 20 all_cancers(95;9.47e-05) GBM - Glioblastoma multiforme(265;0.00551) CATGGCACCCTTTTACCAGTG 0.587000 4 166 0 0 1 0 0 PRDM9 56979 broad.mit.edu 37 5 23527693 23527693 + Silent SNP T T C TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 fabbba2f-92b0-48b5-be7a-e4c9fc08b795 g.chr5:23527693T>C ENST00000296682.3 + 11 2678 c.2496T>C c.(2494-2496)taT>taC p.Y832Y NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 832 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding p.Y832Y(1) 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 AGAAGCCCTATGTCTGCAGGG 0.587000 HNSCC(3;0.000094) 3 158 0 0 1 0 0 EIF3M 10480 broad.mit.edu 37 11 32610273 32610273 + Silent SNP G G A TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 fabbba2f-92b0-48b5-be7a-e4c9fc08b795 g.chr11:32610273G>A ENST00000531120.1 + 3 372 c.309G>A c.(307-309)ctG>ctA p.L103L EIF3M_ENST00000524896.1_Intron NM_006360.4 NP_006351.2 Q7L2H7 EIF3M_HUMAN eukaryotic translation initiation factor 3, subunit M 103 eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity breast(3)|endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 16 Breast(20;0.109) CTCTGAGACTGCAGTTGTAAG 0.408000 4 122 0 0 1 0 0 ANKDD1A 348094 broad.mit.edu 37 15 65234714 65234714 + Missense_Mutation SNP G G T TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 fabbba2f-92b0-48b5-be7a-e4c9fc08b795 g.chr15:65234714G>T ENST00000380230.3 + 10 947 c.918G>T c.(916-918)ttG>ttT p.L306F ANKDD1A_ENST00000395723.1_Missense_Mutation_p.L215F|ANKDD1A_ENST00000357698.3_Missense_Mutation_p.L306F|ANKDD1A_ENST00000395720.1_Missense_Mutation_p.L306F NM_182703.3 NP_874362.3 Q495B1 AKD1A_HUMAN ankyrin repeat and death domain containing 1A 306 signal transduction NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2) 21 TCCCTGCCTTGGTCCGGCTCC 0.602000 3 42 0.0215528 0.0218607 1 1 0 STT3A 3703 broad.mit.edu 37 11 125472775 125472775 + Missense_Mutation SNP G G A TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 fabbba2f-92b0-48b5-be7a-e4c9fc08b795 g.chr11:125472775G>A ENST00000392708.4 + 5 508 c.349G>A c.(349-351)Gtg>Atg p.V117M STT3A_ENST00000531491.1_Missense_Mutation_p.V25M|STT3A_ENST00000529196.1_Missense_Mutation_p.V117M NM_001278503.1|NM_001278504.1|NM_152713.3 NP_001265432.1|NP_001265433.1|NP_689926.1 P46977 STT3A_HUMAN STT3A, subunit of the oligosaccharyltransferase complex (catalytic) 117 post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1) 33 all_hematologic(175;0.228) Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996) GAATGTCTGTGTGTTCCTGGC 0.488000 22 55 0 0 1 0 0 SCRN2 90507 broad.mit.edu 37 17 45916217 45916217 + Missense_Mutation SNP G G A TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 fabbba2f-92b0-48b5-be7a-e4c9fc08b795 g.chr17:45916217G>A ENST00000407215.3 - 5 793 c.712C>T c.(712-714)Cgc>Tgc p.R238C SCRN2_ENST00000290216.9_Missense_Mutation_p.R238C|SCRN2_ENST00000584123.1_Missense_Mutation_p.R246C Q96FV2 SCRN2_HUMAN secernin 2 238 proteolysis dipeptidase activity cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1) 14 GCCTCCATGCGCACAGGCTGC 0.672000 5 136 0 0 1 0 0 QRICH1 54870 broad.mit.edu 37 3 49094329 49094329 + Missense_Mutation SNP T T G TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 fabbba2f-92b0-48b5-be7a-e4c9fc08b795 g.chr3:49094329T>G ENST00000395443.2 - 3 1776 c.1304A>C c.(1303-1305)cAg>cCg p.Q435P QRICH1_ENST00000357496.2_Missense_Mutation_p.Q435P|QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000424300.1_Missense_Mutation_p.Q435P NM_198880.1 NP_942581.1 Q2TAL8 QRIC1_HUMAN glutamine-rich 1 435 Gln-rich. breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1) 25 BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) ctgctgctgctgtggtggtgg 0.562000 3 66 0 0 1 0 0 MADD 8567 broad.mit.edu 37 11 47296303 47296303 + Silent SNP G G A TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 fabbba2f-92b0-48b5-be7a-e4c9fc08b795 g.chr11:47296303G>A ENST00000342922.4 + 3 609 c.252G>A c.(250-252)aaG>aaA p.K84K MADD_ENST00000395344.3_Silent_p.K84K|MADD_ENST00000349238.3_Silent_p.K84K|MADD_ENST00000311027.5_Silent_p.K84K|MADD_ENST00000407859.3_Silent_p.K84K|MADD_ENST00000402799.1_Silent_p.K84K|MADD_ENST00000406482.1_Silent_p.K84K|MADD_ENST00000402192.2_Silent_p.K84K|MADD_ENST00000395336.3_Silent_p.K84K NM_130470.2 NP_569826.2 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain 84 UDENN. activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 84 Lung(87;0.182) TCACTGACAAGGACACTGGAG 0.567000 3 135 0 0 1 0 0 OR11H4 390442 broad.mit.edu 37 14 20711208 20711208 + Silent SNP C C T rs150420661 TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 fabbba2f-92b0-48b5-be7a-e4c9fc08b795 g.chr14:20711208C>T ENST00000315409.2 + 1 311 c.258C>T c.(256-258)tcC>tcT p.S86S NM_001004479.1 NP_001004479.1 Q8NGC9 O11H4_HUMAN olfactory receptor, family 11, subfamily H, member 4 86 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 29 all_cancers(95;0.000888) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0146) ATGTGTCCTCCACTATTCCTA 0.453000 5 166 0 0 1 0 0 FGF5 2250 broad.mit.edu 37 4 81207627 81207627 + Missense_Mutation SNP G G A TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 fabbba2f-92b0-48b5-be7a-e4c9fc08b795 g.chr4:81207627G>A ENST00000312465.7 + 3 834 c.608G>A c.(607-609)aGc>aAc p.S203N FGF5_ENST00000503413.1_3'UTR|FGF5_ENST00000456523.3_3'UTR NM_004464.3 NP_004455.2 P12034 FGF5_HUMAN fibroblast growth factor 5 203 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 fibroblast growth factor receptor binding|growth factor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 22 CGAGGGTGCAGCCCCCGGGTT 0.473000 3 91 0 0 1 0 0 PRKCB 5579 broad.mit.edu 37 16 24105528 24105528 + Missense_Mutation SNP T T C TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 fabbba2f-92b0-48b5-be7a-e4c9fc08b795 g.chr16:24105528T>C ENST00000303531.7 + 7 883 c.731T>C c.(730-732)aTt>aCt p.I244T PRKCB_ENST00000321728.7_Missense_Mutation_p.I244T|PRKCB_ENST00000482000.1_3'UTR NM_002738.6 NP_002729.2 P05771 KPCB_HUMAN protein kinase C, beta 244 C2. apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3) 9 Vitamin E(DB00163) TCAGTAGAGATTTGGGATTGG 0.418000 17 52 0 0 1 0 0 LINC00264 0 broad.mit.edu 37 10 26880266 26880266 + RNA SNP G G A rs138111133 by1000genomes TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 fabbba2f-92b0-48b5-be7a-e4c9fc08b795 g.chr10:26880266G>A ENST00000412114.1 + 0 501 NR_026793.1 ACCAAGCCCAGTGGACAGATG 0.443000 5 42 0 0 1 0 0 CLGN 1047 broad.mit.edu 37 4 141317054 141317054 + Silent SNP A A G rs145850842 by1000genomes TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 fabbba2f-92b0-48b5-be7a-e4c9fc08b795 g.chr4:141317054A>G ENST00000325617.5 - 10 1508 c.1068T>C c.(1066-1068)ggT>ggC p.G356G CLGN_ENST00000414773.1_Silent_p.G356G|CLGN_ENST00000537281.1_Silent_p.G356G NM_004362.2 NP_004353.1 O14967 CLGN_HUMAN calmegin 356 protein folding endoplasmic reticulum membrane|integral to membrane calcium ion binding|unfolded protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1) 25 all_hematologic(180;0.162) GTTTCCACTCACCACACCCAA 0.433000 3 63 0 0 1 0 0 OR10J1 26476 broad.mit.edu 37 1 159410187 159410187 + Missense_Mutation SNP T T G TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 fabbba2f-92b0-48b5-be7a-e4c9fc08b795 g.chr1:159410187T>G ENST00000423932.3 + 1 676 c.639T>G c.(637-639)agT>agG p.S213R RP11-550P17.5_ENST00000431862.1_RNA NM_012351.2 NP_036483.2 P30954 O10J1_HUMAN olfactory receptor, family 10, subfamily J, member 1 213 sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1) 25 all_hematologic(112;0.0429) TGATTATCAGTGTGCTGGTGC 0.458000 20 106 0 0 1 0 0 EXOC8 149371 broad.mit.edu 37 1 231471575 231471575 + Silent SNP C C T TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 fabbba2f-92b0-48b5-be7a-e4c9fc08b795 g.chr1:231471575C>T ENST00000366645.1 - 1 2023 c.1905G>A c.(1903-1905)ctG>ctA p.L635L EXOC8_ENST00000360394.2_Silent_p.L639L Q8IYI6 EXOC8_HUMAN exocyst complex component 8 639 exocytosis|protein transport growth cone|nucleus protein binding cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1) 14 Breast(184;0.0871) all_cancers(173;0.151)|Prostate(94;0.183) GTACCATGTGCAGCTCTGGGA 0.478000 13 77 0 0 1 0 0 MTMR4 9110 broad.mit.edu 37 17 56585536 56585536 + Silent SNP G G A TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 fabbba2f-92b0-48b5-be7a-e4c9fc08b795 g.chr17:56585536G>A ENST00000323456.5 - 8 775 c.651C>T c.(649-651)ccC>ccT p.P217P MTMR4_ENST00000579925.1_Silent_p.P217P NM_004687.4 NP_004678.3 Q9NYA4 MTMR4_HUMAN myotubularin related protein 4 217 Myotubularin phosphatase. cytoplasm|membrane metal ion binding|protein tyrosine phosphatase activity breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5) 36 Medulloblastoma(34;0.127)|all_neural(34;0.237) ACACAACCACGGGAATCCGCT 0.522000 33 82 0 0 1 0 0 MIR329-1 0 broad.mit.edu 37 14 101493161 101493161 + RNA SNP A A T TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 fabbba2f-92b0-48b5-be7a-e4c9fc08b795 g.chr14:101493161A>T ENST00000385028.1 + 0 40 NR_029967.1 TGTTTCTTTAATGAGGACGAA 0.468000 5 128 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414280 20414280 + Silent SNP G G A TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 fabbba2f-92b0-48b5-be7a-e4c9fc08b795 g.chr9:20414280G>A ENST00000380338.4 - 5 850 c.564C>T c.(562-564)agC>agT p.S188S MLLT3_ENST00000429426.2_Silent_p.S185S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 188 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S188S(1) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) TGGTActactgctgctgctgc 0.502000 T MLL ALL 5 71 0 0 1 0 0 NNT 23530 broad.mit.edu 37 5 43700278 43700278 + Silent SNP T T G TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 fabbba2f-92b0-48b5-be7a-e4c9fc08b795 g.chr5:43700278T>G ENST00000264663.5 + 20 3155 c.2934T>G c.(2932-2934)gcT>gcG p.A978A NNT_ENST00000512996.2_Silent_p.A847A|NNT_ENST00000344920.4_Silent_p.A978A NM_012343.3 NP_036475.3 Q13423 NNTM_HUMAN nicotinamide nucleotide transhydrogenase 978 tricarboxylic acid cycle integral to membrane|mitochondrial respiratory chain NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(6;2.58e-06) NADH(DB00157) TGCTGCTGGCTGAGGCTGGTG 0.453000 26 85 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51774158 51774158 + Missense_Mutation SNP T T C TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 fabbba2f-92b0-48b5-be7a-e4c9fc08b795 g.chr6:51774158T>C ENST00000371117.3 - 40 6880 c.6605A>G c.(6604-6606)aAg>aGg p.K2202R PKHD1_ENST00000340994.4_Missense_Mutation_p.K2202R NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 2202 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) CTGCACTCCCTTCAACTGGAC 0.532000 3 185 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276981 186276981 + Silent SNP A A G TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 fabbba2f-92b0-48b5-be7a-e4c9fc08b795 g.chr1:186276981A>G ENST00000445192.2 + 7 2175 c.2130A>G c.(2128-2130)aaA>aaG p.K710K PRG4_ENST00000367486.3_Silent_p.K667K|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Silent_p.K617K|PRG4_ENST00000367483.4_Silent_p.K669K NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 710 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CTACCCCTAAAGGGACTGCTC 0.582000 5 103 0 0 1 0 0 HEATR1 55127 broad.mit.edu 37 1 236749185 236749185 + Missense_Mutation SNP G G T TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 fabbba2f-92b0-48b5-be7a-e4c9fc08b795 g.chr1:236749185G>T ENST00000366582.3 - 16 2098 c.1984C>A c.(1984-1986)Cag>Aag p.Q662K HEATR1_ENST00000366581.2_Missense_Mutation_p.Q662K NM_018072.5 NP_060542.4 Q9H583 HEAT1_HUMAN HEAT repeat containing 1 662 rRNA processing nucleolus|ribonucleoprotein complex protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 87 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) ATCATCTTCTGATTTGCTACA 0.363000 3 43 1 1 1 1 0 ACTC1 70 broad.mit.edu 37 15 35085746 35085746 + Missense_Mutation SNP T T G TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 fabbba2f-92b0-48b5-be7a-e4c9fc08b795 g.chr15:35085746T>G ENST00000290378.4 - 3 809 c.154A>C c.(154-156)Aag>Cag p.K52Q RP11-814P5.1_ENST00000503496.1_RNA NM_005159.4 NP_005150.1 P68032 ACTC_HUMAN actin, alpha, cardiac muscle 1 52 apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly actomyosin, actin part|cytosol|I band ATP binding|ATPase activity|myosin binding central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 31 all_lung(180;2.3e-08) all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244) TAGGAGTCCTTCTGACCCATA 0.453000 5 27 0 0 1 0 0 DOPEY2 9980 broad.mit.edu 37 21 37617884 37617884 + Silent SNP C C T rs112487012 TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 fabbba2f-92b0-48b5-be7a-e4c9fc08b795 g.chr21:37617884C>T ENST00000399151.3 + 19 3691 c.3606C>T c.(3604-3606)ctC>ctT p.L1202L NM_005128.2 NP_005119.2 Q9Y3R5 DOP2_HUMAN dopey family member 2 1202 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 ACTTGGAGCTCCAGGCCCTCA 0.622000 4 35 0 0 1 0 0 DENND5B 160518 broad.mit.edu 37 12 31586051 31586051 + Missense_Mutation SNP G G A TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 fabbba2f-92b0-48b5-be7a-e4c9fc08b795 g.chr12:31586051G>A ENST00000354285.4 - 9 2389 c.2210C>T c.(2209-2211)gCg>gTg p.A737V DENND5B_ENST00000306833.6_Intron|DENND5B_ENST00000389082.5_Intron|DENND5B_ENST00000536562.1_Intron Q6ZUT9 DEN5B_HUMAN DENN/MADD domain containing 5B 0 integral to membrane NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 AGTTCATGGCGCTTGCTGTGA 0.433000 3 77 0 0 1 0 0 ZNF780A 284323 broad.mit.edu 37 19 40580582 40580582 + Silent SNP C C T TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 fabbba2f-92b0-48b5-be7a-e4c9fc08b795 g.chr19:40580582C>T ENST00000450241.2 - 6 1976 c.1665G>A c.(1663-1665)gaG>gaA p.E555E ZNF780A_ENST00000594395.1_Silent_p.E590E|ZNF780A_ENST00000455521.1_Silent_p.E590E|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000340963.5_Silent_p.E589E|ZNF780A_ENST00000595687.2_Silent_p.E589E|AC005614.5_ENST00000595508.1_RNA O75290 Z780A_HUMAN zinc finger protein 780A 589 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1) 31 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) CTTTCCCACACTCCTTACATT 0.393000 5 174 0 0 1 0 0 CPN1 1369 broad.mit.edu 37 10 101835675 101835675 + Missense_Mutation SNP G G A TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 fabbba2f-92b0-48b5-be7a-e4c9fc08b795 g.chr10:101835675G>A ENST00000370418.3 - 2 664 c.413C>T c.(412-414)gCt>gTt p.A138V NM_001308.2 NP_001299.1 P15169 CBPN_HUMAN carboxypeptidase N, polypeptide 1 138 Catalytic. proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 33 Colorectal(252;0.234) Epithelial(162;4.77e-10)|all cancers(201;3.82e-08) TACCTGGGCAGCAGCCACCTC 0.567000 3 48 0 0 1 0 0 DPY19L2 283417 broad.mit.edu 37 12 64041106 64041106 + Missense_Mutation SNP T T C TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 fabbba2f-92b0-48b5-be7a-e4c9fc08b795 g.chr12:64041106T>C ENST00000324472.4 - 5 811 c.628A>G c.(628-630)Atg>Gtg p.M210V RP11-415I12.3_ENST00000509615.2_RNA NM_173812.4 NP_776173.3 Q6NUT2 D19L2_HUMAN dpy-19-like 2 (C. elegans) 210 multicellular organismal development|spermatid development integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(1;2.77e-05) GBM - Glioblastoma multiforme(28;0.044) AATAAATTCATTATTCCCATG 0.318000 4 110 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367767 145367767 + Missense_Mutation SNP G G A rs77484671 TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 fabbba2f-92b0-48b5-be7a-e4c9fc08b795 g.chr1:145367767G>A ENST00000342960.5 + 83 10398 c.10363G>A c.(10363-10365)Gaa>Aaa p.E3455K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3455 p.E3455K(5) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) atcaaagaaggaaagaagaag 0.423000 3 43 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162555 90162555 + RNA SNP C C T TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 fabbba2f-92b0-48b5-be7a-e4c9fc08b795 g.chr16:90162555C>T ENST00000564451.1 + 0 1908 TUBB8P7_ENST00000567960.1_RNA ATGCCACGGCCGAGGAGGAGG 0.522000 3 122 0 0 1 0 0 FSCN3 29999 broad.mit.edu 37 7 127235557 127235557 + Missense_Mutation SNP G G A TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 fabbba2f-92b0-48b5-be7a-e4c9fc08b795 g.chr7:127235557G>A ENST00000265825.5 + 2 560 c.341G>A c.(340-342)cGt>cAt p.R114H FSCN3_ENST00000420086.2_5'UTR NM_020369.2 NP_065102.1 Q9NQT6 FSCN3_HUMAN fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) 114 actin cytoskeleton|cytoplasm actin filament binding|protein binding, bridging p.R114H(1) endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 30 ATCTCTGGTCGTTATTTGGAG 0.567000 3 57 0 0 1 0 0 CLEC1B 51266 broad.mit.edu 37 12 10147815 10147815 + Missense_Mutation SNP G G A TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 fabbba2f-92b0-48b5-be7a-e4c9fc08b795 g.chr12:10147815G>A ENST00000428126.2 - 6 639 c.370C>T c.(370-372)Cgt>Tgt p.R124C CLEC1B_ENST00000348658.4_Missense_Mutation_p.R124C|CLEC1B_ENST00000298527.6_Missense_Mutation_p.R157C Q9P126 CLC1B_HUMAN C-type lectin domain family 1, member B 157 C-type lectin. cell surface receptor linked signaling pathway|defense response integral to plasma membrane protein binding|sugar binding|transmembrane receptor activity p.R157C(1)|p.?(1) NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1) 19 CCGACCCAACGAATTAAATGA 0.418000 51 267 0 0 1 0 0 C11orf63 79864 broad.mit.edu 37 11 122774732 122774732 + Silent SNP G G A TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 fabbba2f-92b0-48b5-be7a-e4c9fc08b795 g.chr11:122774732G>A ENST00000227349.2 + 3 741 c.444G>A c.(442-444)ccG>ccA p.P148P C11orf63_ENST00000307257.6_Silent_p.P148P|C11orf63_ENST00000531316.1_Silent_p.P148P NM_024806.2 NP_079082.2 Q6NUN7 CK063_HUMAN chromosome 11 open reading frame 63 148 breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 47 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311) AAGCGTTGCCGGAGTCCACGG 0.532000 3 118 0 0 1 0 0 ANKRD32 84250 broad.mit.edu 37 5 94022425 94022425 + Splice_Site SNP T T G TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 fabbba2f-92b0-48b5-be7a-e4c9fc08b795 g.chr5:94022425T>G ENST00000265140.5 + 16 2540 c.e16+2 NM_032290.3 NP_115666.2 Q9BQI6 ANR32_HUMAN ankyrin repeat domain 32 NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1) 13 all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152) all cancers(79;3.88e-18) CAGAAAATGGTAAGTACCTCT 0.363000 14 67 0 0 1 0 0 WDR49 151790 broad.mit.edu 37 3 167277926 167277926 + Missense_Mutation SNP C C T TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 fabbba2f-92b0-48b5-be7a-e4c9fc08b795 g.chr3:167277926C>T ENST00000308378.3 - 5 882 c.577G>A c.(577-579)Gca>Aca p.A193T WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Missense_Mutation_p.A246T|WDR49_ENST00000476376.1_Missense_Mutation_p.A18T NM_178824.3 NP_849146.1 Q8IV35 WDR49_HUMAN WD repeat domain 49 193 breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 CTGATTTCTGCGTTGCCGTGG 0.453000 18 96 0 0 1 0 0 CSRNP3 80034 broad.mit.edu 37 2 166514412 166514412 + Missense_Mutation SNP G G A TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 fabbba2f-92b0-48b5-be7a-e4c9fc08b795 g.chr2:166514412G>A ENST00000314499.7 + 5 666 c.290G>A c.(289-291)cGc>cAc p.R97H CSRNP3_ENST00000342316.4_Missense_Mutation_p.R97H|CSRNP3_ENST00000409420.1_Missense_Mutation_p.R129H NM_001172173.1 NP_001165644.1 Q8WYN3 CSRN3_HUMAN cysteine-serine-rich nuclear protein 3 97 apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.R97H(1) breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2) 33 ATGTCCAGCCGCCATAACAGC 0.547000 3 46 0 0 1 0 0 HIST1H4B 8366 broad.mit.edu 37 6 26027359 26027359 + Missense_Mutation SNP C C T TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 fabbba2f-92b0-48b5-be7a-e4c9fc08b795 g.chr6:26027359C>T ENST00000377364.3 - 1 121 c.122G>A c.(121-123)cGt>cAt p.R41H NM_003544.2 NP_003535.1 P62805 H4_HUMAN histone cluster 1, H4b 41 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1) 13 AACCCCACCACGCCTAGCAAG 0.552000 4 62 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152282808 152282808 + Silent SNP A A G TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 fabbba2f-92b0-48b5-be7a-e4c9fc08b795 g.chr1:152282808A>G ENST00000368799.1 - 3 4589 c.4554T>C c.(4552-4554)caT>caC p.H1518H FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1518 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGTGGCTGTGATGGTACCCTG 0.562000 Ichthyosis 62 383 0 0 1 0 0 MESP1 55897 broad.mit.edu 37 15 90293435 90293435 + Silent SNP A A C TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 fabbba2f-92b0-48b5-be7a-e4c9fc08b795 g.chr15:90293435A>C ENST00000300057.4 - 2 825 c.747T>G c.(745-747)gcT>gcG p.A249A MESP1_ENST00000559894.1_5'UTR NM_018670.3 NP_061140.1 Q9BRJ9 MESP1_HUMAN mesoderm posterior 1 homolog (mouse) 249 cardiac atrium formation|cardiac cell fate determination|cardiac vascular smooth muscle cell differentiation|cardiac ventricle formation|cardioblast anterior-lateral migration|cardioblast migration to the midline involved in heart field formation|endothelial cell differentiation|gastrulation|growth involved in heart morphogenesis|heart looping|lateral mesoderm development|negative regulation of endodermal cell fate specification|negative regulation of mesodermal cell fate specification|negative regulation of transcription, DNA-dependent|neurogenesis|Notch signaling pathway|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|positive regulation of hepatocyte differentiation|positive regulation of Notch signaling pathway|positive regulation of striated muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|secondary heart field specification|sinoatrial node cell differentiation|sinus venosus morphogenesis sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NS(1)|kidney(1) 2 Lung NSC(78;0.0237)|all_lung(78;0.0478) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514) TCTCCAACAGAGCCAGCACGT 0.647000 11 73 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38810577 38810577 + Missense_Mutation SNP A A T TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 fabbba2f-92b0-48b5-be7a-e4c9fc08b795 g.chr6:38810577A>T ENST00000359357.3 + 33 4346 c.4092A>T c.(4090-4092)agA>agT p.R1364S DNAH8_ENST00000449981.2_Missense_Mutation_p.R1581S|DNAH8_ENST00000441566.1_Missense_Mutation_p.R1364S dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 ACTGGGATAGAATCTCCGAGT 0.383000 24 99 0 0 1 0 0 ABCE1 6059 broad.mit.edu 37 4 146032204 146032204 + Missense_Mutation SNP A A C TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 fabbba2f-92b0-48b5-be7a-e4c9fc08b795 g.chr4:146032204A>C ENST00000296577.4 + 8 1213 c.698A>C c.(697-699)cAg>cCg p.Q233P OTUD4_ENST00000455611.2_5'UTR|ABCE1_ENST00000502803.1_Intron NM_001040876.1|NM_002940.2 NP_001035809.1|NP_002931.2 P61221 ABCE1_HUMAN ATP-binding cassette, sub-family E (OABP), member 1 233 ABC transporter 1. interspecies interaction between organisms|response to virus|RNA catabolic process mitochondrion ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3) 18 all_hematologic(180;0.151) GTTTGCATACAGAAAGCTGAT 0.363000 6 69 0 0 1 0 0 HTR2C 3358 broad.mit.edu 37 X 113965800 113965800 + Missense_Mutation SNP C C T TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 fabbba2f-92b0-48b5-be7a-e4c9fc08b795 g.chrX:113965800C>T ENST00000276198.1 + 4 861 c.133C>T c.(133-135)Cgc>Tgc p.R45C HTR2C_ENST00000371951.1_Missense_Mutation_p.R45C|HTR2C_ENST00000371950.3_Missense_Mutation_p.R45C NM_000868.2 NP_000859.1 P28335 5HT2C_HUMAN 5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled 45 cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission cytoplasm|integral to membrane|nucleus|plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246) CGATGGTGGACGCTTCAAATT 0.443000 25 75 0 0 1 0 0 ELAVL2 1993 broad.mit.edu 37 9 23701423 23701423 + Missense_Mutation SNP T T C TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 fabbba2f-92b0-48b5-be7a-e4c9fc08b795 g.chr9:23701423T>C ENST00000397312.2 - 5 941 c.667A>G c.(667-669)Aac>Gac p.N223D ELAVL2_ENST00000544538.1_Missense_Mutation_p.N223D|ELAVL2_ENST00000380110.4_Missense_Mutation_p.N252D|ELAVL2_ENST00000380117.1_Missense_Mutation_p.N223D|ELAVL2_ENST00000223951.6_Missense_Mutation_p.N223D NM_004432.3 NP_004423.2 Q12926 ELAV2_HUMAN ELAV like neuron-specific RNA binding protein 2 223 regulation of transcription, DNA-dependent mRNA 3'-UTR binding|nucleotide binding|protein binding breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 39 GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19) TACCTTCTGTTTGGAGACTGG 0.488000 32 224 0 0 1 0 0 GPR4 2828 broad.mit.edu 37 19 46095073 46095073 + Missense_Mutation SNP G G A TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 fabbba2f-92b0-48b5-be7a-e4c9fc08b795 g.chr19:46095073G>A ENST00000323040.4 - 2 996 c.52C>T c.(52-54)Ctc>Ttc p.L18F OPA3_ENST00000544371.1_Intron NM_005282.2 NP_005273.1 P46093 GPR4_HUMAN G protein-coupled receptor 4 18 integral to plasma membrane G-protein coupled receptor activity breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223) GGCGGAAAGAGGTGGTCCACG 0.672000 10 59 0 0 1 0 0 PHTF1 10745 broad.mit.edu 37 1 114256026 114256026 + Missense_Mutation SNP T T C TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 fabbba2f-92b0-48b5-be7a-e4c9fc08b795 g.chr1:114256026T>C ENST00000369604.1 - 8 1141 c.658A>G c.(658-660)Act>Gct p.T220A PHTF1_ENST00000447664.2_Intron|PHTF1_ENST00000369596.2_Missense_Mutation_p.T167A|PHTF1_ENST00000393357.2_Missense_Mutation_p.T220A|PHTF1_ENST00000369598.1_Missense_Mutation_p.T175A|PHTF1_ENST00000357783.2_Missense_Mutation_p.T220A|PHTF1_ENST00000474926.1_5'UTR|PHTF1_ENST00000369600.1_Missense_Mutation_p.T167A Q9UMS5 PHTF1_HUMAN putative homeodomain transcription factor 1 220 nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 Lung SC(450;0.184) all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TCAGTTTCAGTCCCTTTGTTA 0.318000 3 24 0 0 1 0 0 ZNF658 26149 broad.mit.edu 37 9 40773282 40773282 + Missense_Mutation SNP T T C TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 fabbba2f-92b0-48b5-be7a-e4c9fc08b795 g.chr9:40773282T>C ENST00000602553.1 - 5 2287 c.1993A>G c.(1993-1995)Aga>Gga p.R665G ZNF658_ENST00000377626.3_Missense_Mutation_p.R665G|ZNF658_ENST00000441795.1_Intron Q5TYW1 ZN658_HUMAN zinc finger protein 658 665 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 46 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) GTGAAAGATCTCCCACATTCA 0.403000 3 156 0 0 1 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887686 12887686 + Silent SNP T T C rs59802947 by1000genomes TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 fabbba2f-92b0-48b5-be7a-e4c9fc08b795 g.chr1:12887686T>C ENST00000535591.1 - 3 366 c.171A>G c.(169-171)agA>agG p.R57R NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 57 p.R57R(1) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 GAAGTTTCCATCTCCTGTGGG 0.468000 3 219 0 0 1 0 0 EHHADH 1962 broad.mit.edu 37 3 184936017 184936017 + Missense_Mutation SNP A A C TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 fabbba2f-92b0-48b5-be7a-e4c9fc08b795 g.chr3:184936017A>C ENST00000231887.3 - 5 550 c.475T>G c.(475-477)Tta>Gta p.L159V EHHADH_ENST00000475987.1_5'UTR|EHHADH_ENST00000456310.1_Missense_Mutation_p.L63V NM_001166415.1|NM_001966.3 NP_001159887.1|NP_001957.2 Q08426 ECHP_HUMAN enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase 159 Enoyl-CoA hydratase / isomerase. peroxisome 3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3) 24 all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21) NADH(DB00157) TCATCTGCTAAAATACGTCTT 0.378000 29 104 0 0 1 0 0 LRRC66 339977 broad.mit.edu 37 4 52883592 52883592 + Missense_Mutation SNP G G A TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 fabbba2f-92b0-48b5-be7a-e4c9fc08b795 g.chr4:52883592G>A ENST00000343457.3 - 1 194 c.188C>T c.(187-189)gCc>gTc p.A63V NM_001024611.1 NP_001019782.1 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 63 integral to membrane central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 58 ATCCACAGTGGCTGCTGTCTG 0.353000 5 42 0 0 1 0 0 CYP2W1 54905 broad.mit.edu 37 7 1024635 1024635 + Silent SNP G G A TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 fabbba2f-92b0-48b5-be7a-e4c9fc08b795 g.chr7:1024635G>A ENST00000340150.6 + 3 241 c.219G>A c.(217-219)acG>acA p.T73T CYP2W1_ENST00000308919.7_Silent_p.T129T Q8TAV3 CP2W1_HUMAN cytochrome P450, family 2, subfamily W, polypeptide 1 129 xenobiotic metabolic process endoplasmic reticulum membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen breast(1)|large_intestine(1)|lung(4)|urinary_tract(1) 7 Ovarian(82;0.0112) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15) GCCAGTTCACGGTGCGTGCCC 0.652000 9 60 0 0 1 0 0 MUC7 4589 broad.mit.edu 37 4 71346978 71346978 + Missense_Mutation SNP T T C TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 fabbba2f-92b0-48b5-be7a-e4c9fc08b795 g.chr4:71346978T>C ENST00000413702.1 + 4 805 c.517T>C c.(517-519)Tct>Cct p.S173P MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000304887.5_Missense_Mutation_p.S173P|MUC7_ENST00000456088.1_Missense_Mutation_p.S173P NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 173 Thr-rich. extracellular region protein binding p.S173P(3) central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) ACCCACACCTTCTGCAACTAC 0.522000 3 145 0 0 1 0 0 MYO7B 4648 broad.mit.edu 37 2 128351136 128351136 + Missense_Mutation SNP C C T TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 fabbba2f-92b0-48b5-be7a-e4c9fc08b795 g.chr2:128351136C>T ENST00000389524.4 + 18 2214 c.2161C>T c.(2161-2163)Cgc>Tgc p.R721C MYO7B_ENST00000409816.2_Missense_Mutation_p.R721C|MYO7B_ENST00000428314.1_Missense_Mutation_p.R721C Q6PIF6 MYO7B_HUMAN myosin VIIB 721 Myosin head-like. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 75 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) AGGCAAGCTCCGCCAGATGAC 0.612000 3 115 0 0 1 0 0 ZNF208 7757 broad.mit.edu 37 19 22155896 22155896 + Missense_Mutation SNP A A C TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 3cae220e-d1a9-454a-82c3-f381e1b08a26 g.chr19:22155896A>C ENST00000397126.4 - 4 2088 c.1940T>G c.(1939-1941)aTt>aGt p.I647S ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) TGAGACCTTAATAAAGGTTTT 0.398000 5 87 0 0 1 0 0 SPTBN2 6712 broad.mit.edu 37 11 66460020 66460020 + Missense_Mutation SNP T T C TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 3cae220e-d1a9-454a-82c3-f381e1b08a26 g.chr11:66460020T>C ENST00000533211.1 - 26 5508 c.5177A>G c.(5176-5178)tAc>tGc p.Y1726C SPTBN2_ENST00000309996.2_Missense_Mutation_p.Y1726C|SPTBN2_ENST00000529997.1_Missense_Mutation_p.Y1726C O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 1726 actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 74 CACATGCTCGTAGTCCTGGCC 0.647000 3 109 0 0 1 0 0 USP35 57558 broad.mit.edu 37 11 77924826 77924826 + Silent SNP C C T TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 3cae220e-d1a9-454a-82c3-f381e1b08a26 g.chr11:77924826C>T ENST00000529308.1 + 11 3285 c.3024C>T c.(3022-3024)ggC>ggT p.G1008G USP35_ENST00000526425.1_Silent_p.G739G|USP35_ENST00000441408.2_Silent_p.G594G|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000530267.1_Silent_p.G576G NM_020798.2 NP_065849.1 Q9P2H5 UBP35_HUMAN ubiquitin specific peptidase 35 1008 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1) 23 all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.04e-25) CTGCAGGTGGCAATGGTGGTG 0.582000 4 74 0 0 1 0 0 FADS1 3992 broad.mit.edu 37 11 61574167 61574167 + Silent SNP C C T TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 3cae220e-d1a9-454a-82c3-f381e1b08a26 g.chr11:61574167C>T ENST00000350997.7 - 6 1177 c.945G>A c.(943-945)ccG>ccA p.P315P FADS1_ENST00000433932.1_Silent_p.P174P|FADS1_ENST00000542506.1_Silent_p.P174P|FADS2_ENST00000574708.1_Intron NM_013402.4 NP_037534.3 O60427 FADS1_HUMAN fatty acid desaturase 1 258 cell-cell signaling|cellular response to starvation|electron transport chain|icosanoid biosynthetic process|phospholipid biosynthetic process|regulation of cell differentiation|regulation of transcription, DNA-dependent|transport endoplasmic reticulum membrane|integral to membrane|microsome C-5 sterol desaturase activity|heme binding|protein binding central_nervous_system(1)|endometrium(1)|lung(1)|urinary_tract(1) 4 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) GGTGGTTGTACGGCATATATT 0.483000 20 110 0 0 1 0 0 PRKG2 5593 broad.mit.edu 37 4 82064095 82064095 + Silent SNP G G A TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 3cae220e-d1a9-454a-82c3-f381e1b08a26 g.chr4:82064095G>A ENST00000395578.1 - 11 1376 c.1260C>T c.(1258-1260)tcC>tcT p.S420S PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000264399.1_Silent_p.S420S|PRKG2_ENST00000545647.1_5'UTR|PRKG2_ENST00000418486.2_Silent_p.S420S Q13237 KGP2_HUMAN protein kinase, cGMP-dependent, type II 420 platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2) 37 AGTTAGACATGGACCGCCTGT 0.438000 13 69 0 0 1 0 0 SLC25A26 115286 broad.mit.edu 37 3 66428192 66428192 + Silent SNP G G A rs147162139 TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 3cae220e-d1a9-454a-82c3-f381e1b08a26 g.chr3:66428192G>A ENST00000354883.6 + 11 1514 c.786G>A c.(784-786)acG>acA p.T262T SLC25A26_ENST00000336733.5_Silent_p.T174T|SLC25A26_ENST00000536651.1_3'UTR Q70HW3 SAMC_HUMAN solute carrier family 25 (S-adenosylmethionine carrier), member 26 262 integral to membrane|mitochondrial inner membrane|nucleus S-adenosylmethionine transmembrane transporter activity endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)|stomach(2)|urinary_tract(1) 8 Lung NSC(201;0.00774) BRCA - Breast invasive adenocarcinoma(55;0.00046)|KIRC - Kidney renal clear cell carcinoma(15;0.0515)|Kidney(15;0.0648) ATGACCGAACGCACAGCTTGC 0.502000 4 198 0 0 1 0 0 ZNF785 146540 broad.mit.edu 37 16 30594188 30594188 + Missense_Mutation SNP C C A TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 3cae220e-d1a9-454a-82c3-f381e1b08a26 g.chr16:30594188C>A ENST00000395216.2 - 3 1070 c.911G>T c.(910-912)cGc>cTc p.R304L AC002310.7_ENST00000492040.1_RNA|AC002310.7_ENST00000486926.1_RNA|ZNF785_ENST00000470110.1_Missense_Mutation_p.R289L NM_152458.6 NP_689671.2 A8K8V0 ZN785_HUMAN zinc finger protein 785 304 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 9 GGTGTGTATGCGCCTGTGGAT 0.647000 3 47 0.000602214 0.000619927 1 1 0 TEX15 56154 broad.mit.edu 37 8 30701810 30701810 + Missense_Mutation SNP G G A TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 3cae220e-d1a9-454a-82c3-f381e1b08a26 g.chr8:30701810G>A ENST00000256246.2 - 1 4798 c.4724C>T c.(4723-4725)aCg>aTg p.T1575M NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 1575 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) TAAAATAGGCGTATGATTAAC 0.388000 9 104 0 0 1 0 0 MESP1 55897 broad.mit.edu 37 15 90293435 90293435 + Silent SNP A A C TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 3cae220e-d1a9-454a-82c3-f381e1b08a26 g.chr15:90293435A>C ENST00000300057.4 - 2 825 c.747T>G c.(745-747)gcT>gcG p.A249A MESP1_ENST00000559894.1_5'UTR NM_018670.3 NP_061140.1 Q9BRJ9 MESP1_HUMAN mesoderm posterior 1 homolog (mouse) 249 cardiac atrium formation|cardiac cell fate determination|cardiac vascular smooth muscle cell differentiation|cardiac ventricle formation|cardioblast anterior-lateral migration|cardioblast migration to the midline involved in heart field formation|endothelial cell differentiation|gastrulation|growth involved in heart morphogenesis|heart looping|lateral mesoderm development|negative regulation of endodermal cell fate specification|negative regulation of mesodermal cell fate specification|negative regulation of transcription, DNA-dependent|neurogenesis|Notch signaling pathway|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|positive regulation of hepatocyte differentiation|positive regulation of Notch signaling pathway|positive regulation of striated muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|secondary heart field specification|sinoatrial node cell differentiation|sinus venosus morphogenesis sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NS(1)|kidney(1) 2 Lung NSC(78;0.0237)|all_lung(78;0.0478) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514) TCTCCAACAGAGCCAGCACGT 0.647000 11 73 0 0 1 0 0 EIF3M 10480 broad.mit.edu 37 11 32610273 32610273 + Silent SNP G G A TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 3cae220e-d1a9-454a-82c3-f381e1b08a26 g.chr11:32610273G>A ENST00000531120.1 + 3 372 c.309G>A c.(307-309)ctG>ctA p.L103L EIF3M_ENST00000524896.1_Intron NM_006360.4 NP_006351.2 Q7L2H7 EIF3M_HUMAN eukaryotic translation initiation factor 3, subunit M 103 eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity breast(3)|endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 16 Breast(20;0.109) CTCTGAGACTGCAGTTGTAAG 0.408000 4 122 0 0 1 0 0 ANKDD1A 348094 broad.mit.edu 37 15 65234714 65234714 + Missense_Mutation SNP G G T TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 3cae220e-d1a9-454a-82c3-f381e1b08a26 g.chr15:65234714G>T ENST00000380230.3 + 10 947 c.918G>T c.(916-918)ttG>ttT p.L306F ANKDD1A_ENST00000357698.3_Missense_Mutation_p.L306F|ANKDD1A_ENST00000395720.1_Missense_Mutation_p.L306F|ANKDD1A_ENST00000395723.1_Missense_Mutation_p.L215F NM_182703.3 NP_874362.3 Q495B1 AKD1A_HUMAN ankyrin repeat and death domain containing 1A 306 signal transduction NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2) 21 TCCCTGCCTTGGTCCGGCTCC 0.602000 3 42 0.0215528 0.0218651 1 1 0 STT3A 3703 broad.mit.edu 37 11 125472775 125472775 + Missense_Mutation SNP G G A TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 3cae220e-d1a9-454a-82c3-f381e1b08a26 g.chr11:125472775G>A ENST00000392708.4 + 5 508 c.349G>A c.(349-351)Gtg>Atg p.V117M STT3A_ENST00000529196.1_Missense_Mutation_p.V117M|STT3A_ENST00000531491.1_Missense_Mutation_p.V25M NM_001278503.1|NM_001278504.1|NM_152713.3 NP_001265432.1|NP_001265433.1|NP_689926.1 P46977 STT3A_HUMAN STT3A, subunit of the oligosaccharyltransferase complex (catalytic) 117 post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1) 33 all_hematologic(175;0.228) Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996) GAATGTCTGTGTGTTCCTGGC 0.488000 22 55 0 0 1 0 0 SCRN2 90507 broad.mit.edu 37 17 45916217 45916217 + Missense_Mutation SNP G G A TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 3cae220e-d1a9-454a-82c3-f381e1b08a26 g.chr17:45916217G>A ENST00000407215.3 - 5 793 c.712C>T c.(712-714)Cgc>Tgc p.R238C SCRN2_ENST00000584123.1_Missense_Mutation_p.R246C|SCRN2_ENST00000290216.9_Missense_Mutation_p.R238C Q96FV2 SCRN2_HUMAN secernin 2 238 proteolysis dipeptidase activity cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1) 14 GCCTCCATGCGCACAGGCTGC 0.672000 5 136 0 0 1 0 0 QRICH1 54870 broad.mit.edu 37 3 49094329 49094329 + Missense_Mutation SNP T T G TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 3cae220e-d1a9-454a-82c3-f381e1b08a26 g.chr3:49094329T>G ENST00000395443.2 - 3 1776 c.1304A>C c.(1303-1305)cAg>cCg p.Q435P QRICH1_ENST00000424300.1_Missense_Mutation_p.Q435P|QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000357496.2_Missense_Mutation_p.Q435P NM_198880.1 NP_942581.1 Q2TAL8 QRIC1_HUMAN glutamine-rich 1 435 Gln-rich. breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1) 25 BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) ctgctgctgctgtggtggtgg 0.562000 3 66 0 0 1 0 0 MADD 8567 broad.mit.edu 37 11 47296303 47296303 + Silent SNP G G A TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 3cae220e-d1a9-454a-82c3-f381e1b08a26 g.chr11:47296303G>A ENST00000342922.4 + 3 609 c.252G>A c.(250-252)aaG>aaA p.K84K MADD_ENST00000407859.3_Silent_p.K84K|MADD_ENST00000311027.5_Silent_p.K84K|MADD_ENST00000406482.1_Silent_p.K84K|MADD_ENST00000402799.1_Silent_p.K84K|MADD_ENST00000395344.3_Silent_p.K84K|MADD_ENST00000402192.2_Silent_p.K84K|MADD_ENST00000349238.3_Silent_p.K84K|MADD_ENST00000395336.3_Silent_p.K84K NM_130470.2 NP_569826.2 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain 84 UDENN. activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 84 Lung(87;0.182) TCACTGACAAGGACACTGGAG 0.567000 3 135 0 0 1 0 0 OR11H4 390442 broad.mit.edu 37 14 20711208 20711208 + Silent SNP C C T rs150420661 TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 3cae220e-d1a9-454a-82c3-f381e1b08a26 g.chr14:20711208C>T ENST00000315409.2 + 1 311 c.258C>T c.(256-258)tcC>tcT p.S86S NM_001004479.1 NP_001004479.1 Q8NGC9 O11H4_HUMAN olfactory receptor, family 11, subfamily H, member 4 86 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 29 all_cancers(95;0.000888) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0146) ATGTGTCCTCCACTATTCCTA 0.453000 5 166 0 0 1 0 0 OR13C9 286362 broad.mit.edu 37 9 107379676 107379676 + Silent SNP T T C TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 3cae220e-d1a9-454a-82c3-f381e1b08a26 g.chr9:107379676T>C ENST00000259362.1 - 1 809 c.810A>G c.(808-810)tcA>tcG p.S270S NM_001001956.1 NP_001001956.1 Q8NGT0 O13C9_HUMAN olfactory receptor, family 13, subfamily C, member 9 270 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4) 22 CCAAGTCATCTGAATTAAGTG 0.403000 4 86 0 0 1 0 0 EEF1B2 1933 broad.mit.edu 37 2 207025358 207025358 + Missense_Mutation SNP A A G TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 3cae220e-d1a9-454a-82c3-f381e1b08a26 g.chr2:207025358A>G ENST00000392222.2 + 2 502 c.127A>G c.(127-129)Agc>Ggc p.S43G EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G NM_001959.3 NP_001950.1 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 2 43 GST C-terminal. cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity p.S43G(4) breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6) 16 AGCCGTGTCCAGCCCACCGCC 0.468000 5 88 0 0 1 0 0 FGF5 2250 broad.mit.edu 37 4 81207627 81207627 + Missense_Mutation SNP G G A TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 3cae220e-d1a9-454a-82c3-f381e1b08a26 g.chr4:81207627G>A ENST00000312465.7 + 3 834 c.608G>A c.(607-609)aGc>aAc p.S203N FGF5_ENST00000503413.1_3'UTR|FGF5_ENST00000456523.3_3'UTR NM_004464.3 NP_004455.2 P12034 FGF5_HUMAN fibroblast growth factor 5 203 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 fibroblast growth factor receptor binding|growth factor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 22 CGAGGGTGCAGCCCCCGGGTT 0.473000 3 91 0 0 1 0 0 PRKCB 5579 broad.mit.edu 37 16 24105528 24105528 + Missense_Mutation SNP T T C TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 3cae220e-d1a9-454a-82c3-f381e1b08a26 g.chr16:24105528T>C ENST00000303531.7 + 7 883 c.731T>C c.(730-732)aTt>aCt p.I244T PRKCB_ENST00000321728.7_Missense_Mutation_p.I244T|PRKCB_ENST00000482000.1_3'UTR NM_002738.6 NP_002729.2 P05771 KPCB_HUMAN protein kinase C, beta 244 C2. apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3) 9 Vitamin E(DB00163) TCAGTAGAGATTTGGGATTGG 0.418000 17 52 0 0 1 0 0 LINC00264 0 broad.mit.edu 37 10 26880266 26880266 + RNA SNP G G A rs138111133 by1000genomes TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 3cae220e-d1a9-454a-82c3-f381e1b08a26 g.chr10:26880266G>A ENST00000412114.1 + 0 501 NR_026793.1 ACCAAGCCCAGTGGACAGATG 0.443000 5 42 0 0 1 0 0 CLGN 1047 broad.mit.edu 37 4 141317054 141317054 + Silent SNP A A G rs145850842 by1000genomes TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 3cae220e-d1a9-454a-82c3-f381e1b08a26 g.chr4:141317054A>G ENST00000325617.5 - 10 1508 c.1068T>C c.(1066-1068)ggT>ggC p.G356G CLGN_ENST00000537281.1_Silent_p.G356G|CLGN_ENST00000414773.1_Silent_p.G356G NM_004362.2 NP_004353.1 O14967 CLGN_HUMAN calmegin 356 protein folding endoplasmic reticulum membrane|integral to membrane calcium ion binding|unfolded protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1) 25 all_hematologic(180;0.162) GTTTCCACTCACCACACCCAA 0.433000 3 63 0 0 1 0 0 OR10J1 26476 broad.mit.edu 37 1 159410187 159410187 + Missense_Mutation SNP T T G TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 3cae220e-d1a9-454a-82c3-f381e1b08a26 g.chr1:159410187T>G ENST00000423932.3 + 1 676 c.639T>G c.(637-639)agT>agG p.S213R RP11-550P17.5_ENST00000431862.1_RNA NM_012351.2 NP_036483.2 P30954 O10J1_HUMAN olfactory receptor, family 10, subfamily J, member 1 213 sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1) 25 all_hematologic(112;0.0429) TGATTATCAGTGTGCTGGTGC 0.458000 20 106 0 0 1 0 0 EXOC8 149371 broad.mit.edu 37 1 231471575 231471575 + Silent SNP C C T TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 3cae220e-d1a9-454a-82c3-f381e1b08a26 g.chr1:231471575C>T ENST00000366645.1 - 1 2023 c.1905G>A c.(1903-1905)ctG>ctA p.L635L EXOC8_ENST00000360394.2_Silent_p.L639L Q8IYI6 EXOC8_HUMAN exocyst complex component 8 639 exocytosis|protein transport growth cone|nucleus protein binding cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1) 14 Breast(184;0.0871) all_cancers(173;0.151)|Prostate(94;0.183) GTACCATGTGCAGCTCTGGGA 0.478000 13 77 0 0 1 0 0 MTMR4 9110 broad.mit.edu 37 17 56585536 56585536 + Silent SNP G G A TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 3cae220e-d1a9-454a-82c3-f381e1b08a26 g.chr17:56585536G>A ENST00000323456.5 - 8 775 c.651C>T c.(649-651)ccC>ccT p.P217P MTMR4_ENST00000579925.1_Silent_p.P217P NM_004687.4 NP_004678.3 Q9NYA4 MTMR4_HUMAN myotubularin related protein 4 217 Myotubularin phosphatase. cytoplasm|membrane metal ion binding|protein tyrosine phosphatase activity breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5) 36 Medulloblastoma(34;0.127)|all_neural(34;0.237) ACACAACCACGGGAATCCGCT 0.522000 33 82 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414280 20414280 + Silent SNP G G A TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 3cae220e-d1a9-454a-82c3-f381e1b08a26 g.chr9:20414280G>A ENST00000380338.4 - 5 850 c.564C>T c.(562-564)agC>agT p.S188S MLLT3_ENST00000429426.2_Silent_p.S185S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 188 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S188S(1) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) TGGTActactgctgctgctgc 0.502000 T MLL ALL 5 71 0 0 1 0 0 NNT 23530 broad.mit.edu 37 5 43700278 43700278 + Silent SNP T T G TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 3cae220e-d1a9-454a-82c3-f381e1b08a26 g.chr5:43700278T>G ENST00000264663.5 + 20 3155 c.2934T>G c.(2932-2934)gcT>gcG p.A978A NNT_ENST00000344920.4_Silent_p.A978A|NNT_ENST00000512996.2_Silent_p.A847A NM_012343.3 NP_036475.3 Q13423 NNTM_HUMAN nicotinamide nucleotide transhydrogenase 978 tricarboxylic acid cycle integral to membrane|mitochondrial respiratory chain NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(6;2.58e-06) NADH(DB00157) TGCTGCTGGCTGAGGCTGGTG 0.453000 26 85 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51774158 51774158 + Missense_Mutation SNP T T C TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 3cae220e-d1a9-454a-82c3-f381e1b08a26 g.chr6:51774158T>C ENST00000371117.3 - 40 6880 c.6605A>G c.(6604-6606)aAg>aGg p.K2202R PKHD1_ENST00000340994.4_Missense_Mutation_p.K2202R NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 2202 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) CTGCACTCCCTTCAACTGGAC 0.532000 3 185 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152282808 152282808 + Silent SNP A A G TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 3cae220e-d1a9-454a-82c3-f381e1b08a26 g.chr1:152282808A>G ENST00000368799.1 - 3 4589 c.4554T>C c.(4552-4554)caT>caC p.H1518H FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1518 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGTGGCTGTGATGGTACCCTG 0.562000 Ichthyosis 62 383 0 0 1 0 0 SPZ1 84654 broad.mit.edu 37 5 79616605 79616605 + Missense_Mutation SNP C C G TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 3cae220e-d1a9-454a-82c3-f381e1b08a26 g.chr5:79616605C>G ENST00000296739.4 + 1 816 c.571C>G c.(571-573)Cag>Gag p.Q191E NM_032567.3 NP_115956.3 Q9BXG8 SPZ1_HUMAN spermatogenic leucine zipper 1 191 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2) 26 Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36) AAAGAAACAGCAGATGATAAT 0.353000 3 66 0 0 1 0 0 HEATR1 55127 broad.mit.edu 37 1 236749185 236749185 + Missense_Mutation SNP G G T TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 3cae220e-d1a9-454a-82c3-f381e1b08a26 g.chr1:236749185G>T ENST00000366582.3 - 16 2098 c.1984C>A c.(1984-1986)Cag>Aag p.Q662K HEATR1_ENST00000366581.2_Missense_Mutation_p.Q662K NM_018072.5 NP_060542.4 Q9H583 HEAT1_HUMAN HEAT repeat containing 1 662 rRNA processing nucleolus|ribonucleoprotein complex protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 87 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) ATCATCTTCTGATTTGCTACA 0.363000 3 43 1 1 1 1 0 ACTC1 70 broad.mit.edu 37 15 35085746 35085746 + Missense_Mutation SNP T T G TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 3cae220e-d1a9-454a-82c3-f381e1b08a26 g.chr15:35085746T>G ENST00000290378.4 - 3 809 c.154A>C c.(154-156)Aag>Cag p.K52Q RP11-814P5.1_ENST00000503496.1_RNA NM_005159.4 NP_005150.1 P68032 ACTC_HUMAN actin, alpha, cardiac muscle 1 52 apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly actomyosin, actin part|cytosol|I band ATP binding|ATPase activity|myosin binding central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 31 all_lung(180;2.3e-08) all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244) TAGGAGTCCTTCTGACCCATA 0.453000 5 27 0 0 1 0 0 DOPEY2 9980 broad.mit.edu 37 21 37617884 37617884 + Silent SNP C C T rs112487012 TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 3cae220e-d1a9-454a-82c3-f381e1b08a26 g.chr21:37617884C>T ENST00000399151.3 + 19 3691 c.3606C>T c.(3604-3606)ctC>ctT p.L1202L NM_005128.2 NP_005119.2 Q9Y3R5 DOP2_HUMAN dopey family member 2 1202 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 ACTTGGAGCTCCAGGCCCTCA 0.622000 4 35 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45127107 45127107 + RNA SNP C C G rs147409399 by1000genomes TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 3cae220e-d1a9-454a-82c3-f381e1b08a26 g.chr17:45127107C>G ENST00000575173.1 - 0 418 CCTTCGTTCACCCAAGAGCAT 0.592000 4 92 0 0 1 0 0 DENND5B 160518 broad.mit.edu 37 12 31586051 31586051 + Missense_Mutation SNP G G A TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 3cae220e-d1a9-454a-82c3-f381e1b08a26 g.chr12:31586051G>A ENST00000354285.4 - 9 2389 c.2210C>T c.(2209-2211)gCg>gTg p.A737V DENND5B_ENST00000389082.5_Intron|DENND5B_ENST00000536562.1_Intron|DENND5B_ENST00000306833.6_Intron Q6ZUT9 DEN5B_HUMAN DENN/MADD domain containing 5B 0 integral to membrane NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 AGTTCATGGCGCTTGCTGTGA 0.433000 3 77 0 0 1 0 0 CPN1 1369 broad.mit.edu 37 10 101835675 101835675 + Missense_Mutation SNP G G A TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 3cae220e-d1a9-454a-82c3-f381e1b08a26 g.chr10:101835675G>A ENST00000370418.3 - 2 664 c.413C>T c.(412-414)gCt>gTt p.A138V NM_001308.2 NP_001299.1 P15169 CBPN_HUMAN carboxypeptidase N, polypeptide 1 138 Catalytic. proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 33 Colorectal(252;0.234) Epithelial(162;4.77e-10)|all cancers(201;3.82e-08) TACCTGGGCAGCAGCCACCTC 0.567000 3 48 0 0 1 0 0 DPY19L2 283417 broad.mit.edu 37 12 64041106 64041106 + Missense_Mutation SNP T T C TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 3cae220e-d1a9-454a-82c3-f381e1b08a26 g.chr12:64041106T>C ENST00000324472.4 - 5 811 c.628A>G c.(628-630)Atg>Gtg p.M210V RP11-415I12.3_ENST00000509615.2_RNA NM_173812.4 NP_776173.3 Q6NUT2 D19L2_HUMAN dpy-19-like 2 (C. elegans) 210 multicellular organismal development|spermatid development integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(1;2.77e-05) GBM - Glioblastoma multiforme(28;0.044) AATAAATTCATTATTCCCATG 0.318000 4 110 0 0 1 0 0 EEF1B2 1933 broad.mit.edu 37 2 207025366 207025366 + Silent SNP G G A TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 3cae220e-d1a9-454a-82c3-f381e1b08a26 g.chr2:207025366G>A ENST00000392222.2 + 2 510 c.135G>A c.(133-135)ccG>ccA p.P45P EEF1B2_ENST00000392221.1_Silent_p.P45P|EEF1B2_ENST00000236957.5_Silent_p.P45P NM_001959.3 NP_001950.1 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 2 45 GST C-terminal. cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity p.P45P(5) breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6) 16 CCAGCCCACCGCCTGCCGACT 0.448000 5 93 0 0 1 0 0 FSCN3 29999 broad.mit.edu 37 7 127235557 127235557 + Missense_Mutation SNP G G A TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 3cae220e-d1a9-454a-82c3-f381e1b08a26 g.chr7:127235557G>A ENST00000265825.5 + 2 560 c.341G>A c.(340-342)cGt>cAt p.R114H FSCN3_ENST00000420086.2_5'UTR NM_020369.2 NP_065102.1 Q9NQT6 FSCN3_HUMAN fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) 114 actin cytoskeleton|cytoplasm actin filament binding|protein binding, bridging p.R114H(1) endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 30 ATCTCTGGTCGTTATTTGGAG 0.567000 3 57 0 0 1 0 0 CLEC1B 51266 broad.mit.edu 37 12 10147815 10147815 + Missense_Mutation SNP G G A TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 3cae220e-d1a9-454a-82c3-f381e1b08a26 g.chr12:10147815G>A ENST00000428126.2 - 6 639 c.370C>T c.(370-372)Cgt>Tgt p.R124C CLEC1B_ENST00000298527.6_Missense_Mutation_p.R157C|CLEC1B_ENST00000348658.4_Missense_Mutation_p.R124C Q9P126 CLC1B_HUMAN C-type lectin domain family 1, member B 157 C-type lectin. cell surface receptor linked signaling pathway|defense response integral to plasma membrane protein binding|sugar binding|transmembrane receptor activity p.R157C(1)|p.?(1) NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1) 19 CCGACCCAACGAATTAAATGA 0.418000 51 267 0 0 1 0 0 C11orf63 79864 broad.mit.edu 37 11 122774732 122774732 + Silent SNP G G A TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 3cae220e-d1a9-454a-82c3-f381e1b08a26 g.chr11:122774732G>A ENST00000227349.2 + 3 741 c.444G>A c.(442-444)ccG>ccA p.P148P C11orf63_ENST00000307257.6_Silent_p.P148P|C11orf63_ENST00000531316.1_Silent_p.P148P NM_024806.2 NP_079082.2 Q6NUN7 CK063_HUMAN chromosome 11 open reading frame 63 148 breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 47 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311) AAGCGTTGCCGGAGTCCACGG 0.532000 3 118 0 0 1 0 0 ANKRD32 84250 broad.mit.edu 37 5 94022425 94022425 + Splice_Site SNP T T G TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 3cae220e-d1a9-454a-82c3-f381e1b08a26 g.chr5:94022425T>G ENST00000265140.5 + 16 2540 c.e16+2 NM_032290.3 NP_115666.2 Q9BQI6 ANR32_HUMAN ankyrin repeat domain 32 NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1) 13 all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152) all cancers(79;3.88e-18) CAGAAAATGGTAAGTACCTCT 0.363000 14 67 0 0 1 0 0 WDR49 151790 broad.mit.edu 37 3 167277926 167277926 + Missense_Mutation SNP C C T TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 3cae220e-d1a9-454a-82c3-f381e1b08a26 g.chr3:167277926C>T ENST00000308378.3 - 5 882 c.577G>A c.(577-579)Gca>Aca p.A193T WDR49_ENST00000453925.2_Missense_Mutation_p.A246T|WDR49_ENST00000476376.1_Missense_Mutation_p.A18T|WDR49_ENST00000479765.1_Intron NM_178824.3 NP_849146.1 Q8IV35 WDR49_HUMAN WD repeat domain 49 193 breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 CTGATTTCTGCGTTGCCGTGG 0.453000 18 96 0 0 1 0 0 CSRNP3 80034 broad.mit.edu 37 2 166514412 166514412 + Missense_Mutation SNP G G A TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 3cae220e-d1a9-454a-82c3-f381e1b08a26 g.chr2:166514412G>A ENST00000314499.7 + 5 666 c.290G>A c.(289-291)cGc>cAc p.R97H CSRNP3_ENST00000342316.4_Missense_Mutation_p.R97H|CSRNP3_ENST00000409420.1_Missense_Mutation_p.R129H NM_001172173.1 NP_001165644.1 Q8WYN3 CSRN3_HUMAN cysteine-serine-rich nuclear protein 3 97 apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.R97H(1) breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2) 33 ATGTCCAGCCGCCATAACAGC 0.547000 3 46 0 0 1 0 0 HIST1H4B 8366 broad.mit.edu 37 6 26027359 26027359 + Missense_Mutation SNP C C T TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 3cae220e-d1a9-454a-82c3-f381e1b08a26 g.chr6:26027359C>T ENST00000377364.3 - 1 121 c.122G>A c.(121-123)cGt>cAt p.R41H NM_003544.2 NP_003535.1 P62805 H4_HUMAN histone cluster 1, H4b 41 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1) 13 AACCCCACCACGCCTAGCAAG 0.552000 4 62 0 0 1 0 0 ZNF780A 284323 broad.mit.edu 37 19 40580552 40580552 + Missense_Mutation SNP T T G TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 3cae220e-d1a9-454a-82c3-f381e1b08a26 g.chr19:40580552T>G ENST00000450241.2 - 6 2006 c.1695A>C c.(1693-1695)caA>caC p.Q565H ZNF780A_ENST00000455521.1_Missense_Mutation_p.Q600H|ZNF780A_ENST00000595687.2_Missense_Mutation_p.Q599H|ZNF780A_ENST00000340963.5_Missense_Mutation_p.Q599H|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000594395.1_Missense_Mutation_p.Q600H O75290 Z780A_HUMAN zinc finger protein 780A 599 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1) 31 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) GTCGAATAAGTTGCATATGAA 0.403000 3 148 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38810577 38810577 + Missense_Mutation SNP A A T TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 3cae220e-d1a9-454a-82c3-f381e1b08a26 g.chr6:38810577A>T ENST00000359357.3 + 33 4346 c.4092A>T c.(4090-4092)agA>agT p.R1364S DNAH8_ENST00000449981.2_Missense_Mutation_p.R1581S|DNAH8_ENST00000441566.1_Missense_Mutation_p.R1364S dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 ACTGGGATAGAATCTCCGAGT 0.383000 24 99 0 0 1 0 0 ABCE1 6059 broad.mit.edu 37 4 146032204 146032204 + Missense_Mutation SNP A A C TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 3cae220e-d1a9-454a-82c3-f381e1b08a26 g.chr4:146032204A>C ENST00000296577.4 + 8 1213 c.698A>C c.(697-699)cAg>cCg p.Q233P ABCE1_ENST00000502803.1_Intron|OTUD4_ENST00000455611.2_5'UTR NM_001040876.1|NM_002940.2 NP_001035809.1|NP_002931.2 P61221 ABCE1_HUMAN ATP-binding cassette, sub-family E (OABP), member 1 233 ABC transporter 1. interspecies interaction between organisms|response to virus|RNA catabolic process mitochondrion ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3) 18 all_hematologic(180;0.151) GTTTGCATACAGAAAGCTGAT 0.363000 6 69 0 0 1 0 0 PTPRF 5792 broad.mit.edu 37 1 44071948 44071948 + Missense_Mutation SNP G G A TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 3cae220e-d1a9-454a-82c3-f381e1b08a26 g.chr1:44071948G>A ENST00000359947.4 + 20 3861 c.3521G>A c.(3520-3522)cGg>cAg p.R1174Q PTPRF_ENST00000372413.3_Missense_Mutation_p.R1165Q|PTPRF_ENST00000372414.3_Missense_Mutation_p.R1174Q|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_Missense_Mutation_p.R522Q|PTPRF_ENST00000438120.1_Missense_Mutation_p.R1165Q NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 1174 transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GAGGAGCAGCGGCGGCGGCGG 0.632000 4 92 0 0 1 0 0 HTR2C 3358 broad.mit.edu 37 X 113965800 113965800 + Missense_Mutation SNP C C T TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 3cae220e-d1a9-454a-82c3-f381e1b08a26 g.chrX:113965800C>T ENST00000276198.1 + 4 861 c.133C>T c.(133-135)Cgc>Tgc p.R45C HTR2C_ENST00000371951.1_Missense_Mutation_p.R45C|HTR2C_ENST00000371950.3_Missense_Mutation_p.R45C NM_000868.2 NP_000859.1 P28335 5HT2C_HUMAN 5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled 45 cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission cytoplasm|integral to membrane|nucleus|plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246) CGATGGTGGACGCTTCAAATT 0.443000 25 75 0 0 1 0 0 ELAVL2 1993 broad.mit.edu 37 9 23701423 23701423 + Missense_Mutation SNP T T C TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 3cae220e-d1a9-454a-82c3-f381e1b08a26 g.chr9:23701423T>C ENST00000397312.2 - 5 941 c.667A>G c.(667-669)Aac>Gac p.N223D ELAVL2_ENST00000223951.6_Missense_Mutation_p.N223D|ELAVL2_ENST00000380117.1_Missense_Mutation_p.N223D|ELAVL2_ENST00000380110.4_Missense_Mutation_p.N252D|ELAVL2_ENST00000544538.1_Missense_Mutation_p.N223D NM_004432.3 NP_004423.2 Q12926 ELAV2_HUMAN ELAV like neuron-specific RNA binding protein 2 223 regulation of transcription, DNA-dependent mRNA 3'-UTR binding|nucleotide binding|protein binding breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 39 GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19) TACCTTCTGTTTGGAGACTGG 0.488000 32 224 0 0 1 0 0 GPR4 2828 broad.mit.edu 37 19 46095073 46095073 + Missense_Mutation SNP G G A TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 3cae220e-d1a9-454a-82c3-f381e1b08a26 g.chr19:46095073G>A ENST00000323040.4 - 2 996 c.52C>T c.(52-54)Ctc>Ttc p.L18F OPA3_ENST00000544371.1_Intron NM_005282.2 NP_005273.1 P46093 GPR4_HUMAN G protein-coupled receptor 4 18 integral to plasma membrane G-protein coupled receptor activity breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223) GGCGGAAAGAGGTGGTCCACG 0.672000 10 59 0 0 1 0 0 PHTF1 10745 broad.mit.edu 37 1 114256026 114256026 + Missense_Mutation SNP T T C TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 3cae220e-d1a9-454a-82c3-f381e1b08a26 g.chr1:114256026T>C ENST00000369604.1 - 8 1141 c.658A>G c.(658-660)Act>Gct p.T220A PHTF1_ENST00000447664.2_Intron|PHTF1_ENST00000369598.1_Missense_Mutation_p.T175A|PHTF1_ENST00000369600.1_Missense_Mutation_p.T167A|PHTF1_ENST00000369596.2_Missense_Mutation_p.T167A|PHTF1_ENST00000357783.2_Missense_Mutation_p.T220A|PHTF1_ENST00000393357.2_Missense_Mutation_p.T220A|PHTF1_ENST00000474926.1_5'UTR Q9UMS5 PHTF1_HUMAN putative homeodomain transcription factor 1 220 nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 Lung SC(450;0.184) all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TCAGTTTCAGTCCCTTTGTTA 0.318000 3 24 0 0 1 0 0 ZNF658 26149 broad.mit.edu 37 9 40773282 40773282 + Missense_Mutation SNP T T C TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 3cae220e-d1a9-454a-82c3-f381e1b08a26 g.chr9:40773282T>C ENST00000602553.1 - 5 2287 c.1993A>G c.(1993-1995)Aga>Gga p.R665G ZNF658_ENST00000441795.1_Intron|ZNF658_ENST00000377626.3_Missense_Mutation_p.R665G Q5TYW1 ZN658_HUMAN zinc finger protein 658 665 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 46 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) GTGAAAGATCTCCCACATTCA 0.403000 3 156 0 0 1 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887686 12887686 + Silent SNP T T C rs59802947 by1000genomes TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 3cae220e-d1a9-454a-82c3-f381e1b08a26 g.chr1:12887686T>C ENST00000535591.1 - 3 366 c.171A>G c.(169-171)agA>agG p.R57R NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 57 p.R57R(1) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 GAAGTTTCCATCTCCTGTGGG 0.468000 3 219 0 0 1 0 0 EHHADH 1962 broad.mit.edu 37 3 184936017 184936017 + Missense_Mutation SNP A A C TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 3cae220e-d1a9-454a-82c3-f381e1b08a26 g.chr3:184936017A>C ENST00000231887.3 - 5 550 c.475T>G c.(475-477)Tta>Gta p.L159V EHHADH_ENST00000475987.1_5'UTR|EHHADH_ENST00000456310.1_Missense_Mutation_p.L63V NM_001166415.1|NM_001966.3 NP_001159887.1|NP_001957.2 Q08426 ECHP_HUMAN enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase 159 Enoyl-CoA hydratase / isomerase. peroxisome 3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3) 24 all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21) NADH(DB00157) TCATCTGCTAAAATACGTCTT 0.378000 29 104 0 0 1 0 0 LRRC66 339977 broad.mit.edu 37 4 52883592 52883592 + Missense_Mutation SNP G G A TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 3cae220e-d1a9-454a-82c3-f381e1b08a26 g.chr4:52883592G>A ENST00000343457.3 - 1 194 c.188C>T c.(187-189)gCc>gTc p.A63V NM_001024611.1 NP_001019782.1 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 63 integral to membrane central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 58 ATCCACAGTGGCTGCTGTCTG 0.353000 5 42 0 0 1 0 0 CYP2W1 54905 broad.mit.edu 37 7 1024635 1024635 + Silent SNP G G A TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 3cae220e-d1a9-454a-82c3-f381e1b08a26 g.chr7:1024635G>A ENST00000340150.6 + 3 241 c.219G>A c.(217-219)acG>acA p.T73T CYP2W1_ENST00000308919.7_Silent_p.T129T Q8TAV3 CP2W1_HUMAN cytochrome P450, family 2, subfamily W, polypeptide 1 129 xenobiotic metabolic process endoplasmic reticulum membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen breast(1)|large_intestine(1)|lung(4)|urinary_tract(1) 7 Ovarian(82;0.0112) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15) GCCAGTTCACGGTGCGTGCCC 0.652000 9 60 0 0 1 0 0 MUC7 4589 broad.mit.edu 37 4 71346978 71346978 + Missense_Mutation SNP T T C TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 3cae220e-d1a9-454a-82c3-f381e1b08a26 g.chr4:71346978T>C ENST00000413702.1 + 4 805 c.517T>C c.(517-519)Tct>Cct p.S173P MUC7_ENST00000456088.1_Missense_Mutation_p.S173P|MUC7_ENST00000304887.5_Missense_Mutation_p.S173P|MUC7_ENST00000514512.1_3'UTR NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 173 Thr-rich. extracellular region protein binding p.S173P(3) central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) ACCCACACCTTCTGCAACTAC 0.522000 3 145 0 0 1 0 0 MYO7B 4648 broad.mit.edu 37 2 128351136 128351136 + Missense_Mutation SNP C C T TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 3cae220e-d1a9-454a-82c3-f381e1b08a26 g.chr2:128351136C>T ENST00000389524.4 + 18 2214 c.2161C>T c.(2161-2163)Cgc>Tgc p.R721C MYO7B_ENST00000409816.2_Missense_Mutation_p.R721C|MYO7B_ENST00000428314.1_Missense_Mutation_p.R721C Q6PIF6 MYO7B_HUMAN myosin VIIB 721 Myosin head-like. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 75 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) AGGCAAGCTCCGCCAGATGAC 0.612000 3 115 0 0 1 0 0 ZBTB8A 653121 broad.mit.edu 37 1 33065979 33065981 + In_Frame_Del DEL GAA GAA - TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 fabbba2f-92b0-48b5-be7a-e4c9fc08b795 g.chr1:33065979_33065981delGAA ENST00000373510.4 + 5 1514_1516 c.1285_1287delGAA c.(1285-1287)del p.E433del ZBTB8OS_ENST00000341885.5_Intron|ZBTB8A_ENST00000316459.4_3'UTR|RP1-27O5.3_ENST00000480336.1_3'UTR NM_001040441.1 NP_001035531.1 Q96BR9 ZBT8A_HUMAN zinc finger and BTB domain containing 8A 433 Poly-Glu. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(2)|large_intestine(2)|lung(2)|prostate(1) 7 TGATGATAGTGAAGAAGAAGAAG 0.414 9 101 --- --- --- --- LMX1A 4009 broad.mit.edu 37 1 165177332 165177334 + In_Frame_Del DEL TGC TGC - TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 fabbba2f-92b0-48b5-be7a-e4c9fc08b795 g.chr1:165177332_165177334delTGC ENST00000342310.3 - 7 1165_1167 c.783_785delGCA c.(781-786)caa>ca p.QQ261del LMX1A_ENST00000489443.2_5'UTR|LMX1A_ENST00000294816.2_In_Frame_Del_p.QQ261del|LMX1A_ENST00000367893.4_In_Frame_Del_p.QQ261del NM_177398.3 NP_796372.1 Q8TE12 LMX1A_HUMAN LIM homeobox transcription factor 1, alpha 261 Gln-rich.|Poly-Gln. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4) 35 all_hematologic(923;0.248) CTGCTGATCTTGCTGCTGCTGCT 0.567 8 57 --- --- --- --- FOXP2 93986 broad.mit.edu 37 7 114270016 114270018 + In_Frame_Del DEL CAG CAG - TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 fabbba2f-92b0-48b5-be7a-e4c9fc08b795 g.chr7:114270016_114270018delCAG ENST00000393500.3 + 11 1148_1150 c.328_330delCAG c.(328-330)del p.Q116del FOXP2_ENST00000403559.4_In_Frame_Del_p.Q208del|FOXP2_ENST00000393494.2_In_Frame_Del_p.Q191del|FOXP2_ENST00000390668.3_In_Frame_Del_p.Q215del|FOXP2_ENST00000393498.2_In_Frame_Del_p.Q171del|FOXP2_ENST00000350908.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000408937.3_In_Frame_Del_p.Q216del|FOXP2_ENST00000378237.3_In_Frame_Del_p.Q191del|FOXP2_ENST00000393491.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000393489.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000360232.4_In_Frame_Del_p.Q191del O15409 FOXP2_HUMAN forkhead box P2 191 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding p.Q210Q(2) breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 gcagcagcaacagcagcagcagc 0.507 7 51 --- --- --- --- RP11-180I4.2 0 broad.mit.edu 37 9 98468147 98468148 + RNA INS - - CAC rs117111638 by1000genomes TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 fabbba2f-92b0-48b5-be7a-e4c9fc08b795 g.chr9:98468147_98468148insCAC ENST00000580326.1 + 0 189 acaatcaccatcaccaccacca 0.574 3 4 --- --- --- --- COL5A1 1289 broad.mit.edu 37 9 137534099 137534101 + In_Frame_Del DEL GCT GCT - rs13288533 TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 fabbba2f-92b0-48b5-be7a-e4c9fc08b795 g.chr9:137534099_137534101delGCT ENST00000371817.3 + 1 480_482 c.66_68delGCT c.(64-69)ccg>cc p.PL22del NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 22 axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) tgctgcccccgctgctgctgctg 0.828 2 4 --- --- --- --- MAP3K9 4293 broad.mit.edu 37 14 71275774 71275776 + In_Frame_Del DEL CCT CCT - rs3832971 TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 fabbba2f-92b0-48b5-be7a-e4c9fc08b795 g.chr14:71275774_71275776delCCT ENST00000554752.2 - 1 112_114 c.113_115delAGG c.(112-117)gcg>g p.EA38del MAP3K9_ENST00000381250.4_In_Frame_Del_p.EA38del|MAP3K9_ENST00000555993.2_In_Frame_Del_p.EA38del P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 9 38 Ala-rich.|Poly-Glu. activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity p.E38delE(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) GCCGCCGCCGcctcctcctcctc 0.773 4 4 --- --- --- --- HERC2P3 0 broad.mit.edu 37 15 20710570 20710570 + RNA DEL A A - TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 fabbba2f-92b0-48b5-be7a-e4c9fc08b795 g.chr15:20710570delA ENST00000428453.1 - 0 157 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 TACATACCCTAAAAAAAAGCC 0.368 2 4 --- --- --- --- FRG1B 0 broad.mit.edu 37 20 29625899 29625900 + Frame_Shift_Ins INS - - AT TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 fabbba2f-92b0-48b5-be7a-e4c9fc08b795 g.chr20:29625899_29625900insAT ENST00000278882.3 + 5 523_524 c.143_144insAT c.(142-144)atafs p.I48fs FRG1B_ENST00000358464.4_Frame_Shift_Ins_p.I48fs|FRG1B_ENST00000439954.2_Frame_Shift_Ins_p.I53fs endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGCTATGGAAAATATCTTGGTA 0.342 7 104 --- --- --- --- PMEPA1 56937 broad.mit.edu 37 20 56227348 56227349 + Frame_Shift_Ins INS - - G TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 fabbba2f-92b0-48b5-be7a-e4c9fc08b795 g.chr20:56227348_56227349insG ENST00000341744.3 - 4 943_944 c.624_625insC c.(622-627)ccgcagfs p.Q209fs PMEPA1_ENST00000265626.4_Frame_Shift_Ins_p.Q159fs|PMEPA1_ENST00000395814.1_Frame_Shift_Ins_p.Q159fs|PMEPA1_ENST00000395816.3_Frame_Shift_Ins_p.Q159fs|PMEPA1_ENST00000347215.4_Frame_Shift_Ins_p.Q174fs NM_020182.4 NP_064567.2 Q969W9 PMEPA_HUMAN prostate transmembrane protein, androgen induced 1 209 androgen receptor signaling pathway integral to membrane|plasma membrane WW domain binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1) 16 GAGTTACTGCTGGGGGGGCAGG 0.683 12 57 --- --- --- --- ZBTB8A 653121 broad.mit.edu 37 1 33065979 33065981 + In_Frame_Del DEL GAA GAA - TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 3cae220e-d1a9-454a-82c3-f381e1b08a26 g.chr1:33065979_33065981delGAA ENST00000373510.4 + 5 1514_1516 c.1285_1287delGAA c.(1285-1287)del p.E433del RP1-27O5.3_ENST00000480336.1_3'UTR|ZBTB8OS_ENST00000341885.5_Intron|ZBTB8A_ENST00000316459.4_3'UTR NM_001040441.1 NP_001035531.1 Q96BR9 ZBT8A_HUMAN zinc finger and BTB domain containing 8A 433 Poly-Glu. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(2)|large_intestine(2)|lung(2)|prostate(1) 7 TGATGATAGTGAAGAAGAAGAAG 0.414 9 101 --- --- --- --- PROM1 8842 broad.mit.edu 37 4 15995680 15995680 + Frame_Shift_Del DEL T T - TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 3cae220e-d1a9-454a-82c3-f381e1b08a26 g.chr4:15995680delT ENST00000505450.1 - 15 2282 c.1670delA c.(1669-1671)atfs p.N557fs PROM1_ENST00000510224.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000508167.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000540805.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000543373.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000539194.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000447510.2_Frame_Shift_Del_p.N566fs NM_001145848.1 NP_001139320.1 O43490 PROM1_HUMAN prominin 1 566 camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane beta-actinin binding|cadherin binding breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2) 35 AGTGCCTCTATTTTTTTTGCA 0.428 7 99 --- --- --- --- FOXP2 93986 broad.mit.edu 37 7 114270016 114270018 + In_Frame_Del DEL CAG CAG - TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 3cae220e-d1a9-454a-82c3-f381e1b08a26 g.chr7:114270016_114270018delCAG ENST00000393500.3 + 11 1148_1150 c.328_330delCAG c.(328-330)del p.Q116del FOXP2_ENST00000360232.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000390668.3_In_Frame_Del_p.Q215del|FOXP2_ENST00000393498.2_In_Frame_Del_p.Q171del|FOXP2_ENST00000393491.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000403559.4_In_Frame_Del_p.Q208del|FOXP2_ENST00000393494.2_In_Frame_Del_p.Q191del|FOXP2_ENST00000408937.3_In_Frame_Del_p.Q216del|FOXP2_ENST00000393489.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000350908.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000378237.3_In_Frame_Del_p.Q191del O15409 FOXP2_HUMAN forkhead box P2 191 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding p.Q210Q(2) breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 gcagcagcaacagcagcagcagc 0.507 7 51 --- --- --- --- RP11-324H6.5 0 broad.mit.edu 37 10 51814320 51814320 + RNA DEL A A - rs11306955 TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 3cae220e-d1a9-454a-82c3-f381e1b08a26 g.chr10:51814320delA ENST00000456967.1 - 0 1657 NR_038275.1 AACTCTATTGAGAAAAACCTG 0.358 4 4 --- --- --- --- ULK4P3 0 broad.mit.edu 37 15 30406088 30406089 + RNA INS - - T TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 3cae220e-d1a9-454a-82c3-f381e1b08a26 g.chr15:30406088_30406089insT ENST00000568486.1 + 0 402 NR_026859.1 TGCCTCAAAAGTTTTTTTTTTT 0.297 3 5 --- --- --- --- RP11-178C3.2 0 broad.mit.edu 37 17 58050857 58050857 + RNA DEL G G - TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 3cae220e-d1a9-454a-82c3-f381e1b08a26 g.chr17:58050857delG ENST00000586209.1 + 0 158 TTTTTTTTTTGGCAGTTTTTA 0.423 3 6 --- --- --- --- OR7E24 26648 broad.mit.edu 37 19 9361740 9361741 + Frame_Shift_Ins INS - - T TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 3cae220e-d1a9-454a-82c3-f381e1b08a26 g.chr19:9361740_9361741insT ENST00000456448.1 + 1 135_136 c.21_22insT c.(19-24)ctttttfs p.LF7fs NM_001079935.1 NP_001073404.1 Q6IFN5 O7E24_HUMAN olfactory receptor, family 7, subfamily E, member 24 7 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2) 16 TTCCAATTCTCTTTTTTTTTTT 0.386 3 6 --- --- --- --- PMEPA1 56937 broad.mit.edu 37 20 56227348 56227349 + Frame_Shift_Ins INS - - G TCGA-HC-7745-01A-11D-2114-08 TCGA-HC-7745-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e51da70-984c-491f-a9eb-1bbb34f01a49 3cae220e-d1a9-454a-82c3-f381e1b08a26 g.chr20:56227348_56227349insG ENST00000341744.3 - 4 943_944 c.624_625insC c.(622-627)ccgcagfs p.Q209fs PMEPA1_ENST00000347215.4_Frame_Shift_Ins_p.Q174fs|PMEPA1_ENST00000395814.1_Frame_Shift_Ins_p.Q159fs|PMEPA1_ENST00000265626.4_Frame_Shift_Ins_p.Q159fs|PMEPA1_ENST00000395816.3_Frame_Shift_Ins_p.Q159fs NM_020182.4 NP_064567.2 Q969W9 PMEPA_HUMAN prostate transmembrane protein, androgen induced 1 209 androgen receptor signaling pathway integral to membrane|plasma membrane WW domain binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1) 16 GAGTTACTGCTGGGGGGGCAGG 0.683 12 57 --- --- --- ---