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 TMCC1 23023 broad.mit.edu 37 3 129547175 129547175 + Missense_Mutation SNP C C G rs114855835 by1000genomes TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr3:129547175C>G ENST00000393238.3 - 3 387 c.47G>C c.(46-48)gGa>gCa p.G16A TMCC1_ENST00000426664.2_Intron NM_001017395.3 NP_001017395.2 O94876 TMCC1_HUMAN transmembrane and coiled-coil domain family 1 16 integral to membrane PLXND1/TMCC1(4) breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1) 25 GGATTTGCCTCCAGGATCAGG 0.403000 7 65 0 0 1 0 0 LRRC15 131578 broad.mit.edu 37 3 194080440 194080440 + Silent SNP A A G TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr3:194080440A>G ENST00000347624.3 - 2 1418 c.1333T>C c.(1333-1335)Tta>Cta p.L445L LRRC15_ENST00000428839.1_Silent_p.L451L|LRRC15_ENST00000439944.2_Silent_p.L451L NM_130830.4 NP_570843.2 Q8TF66 LRC15_HUMAN leucine rich repeat containing 15 445 LRRCT. integral to membrane biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.94e-05) TCCGTCCCTAACCTAGGCTGG 0.552000 4 38 0 0 1 0 0 KAT7 11143 broad.mit.edu 37 17 47874127 47874127 + Missense_Mutation SNP G G A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr17:47874127G>A ENST00000259021.4 + 3 459 c.179G>A c.(178-180)cGa>cAa p.R60Q KAT7_ENST00000424009.2_Missense_Mutation_p.R60Q|KAT7_ENST00000510819.1_Intron|KAT7_ENST00000509773.1_Missense_Mutation_p.R60Q|KAT7_ENST00000503935.2_5'UTR|KAT7_ENST00000454930.2_Intron|KAT7_ENST00000435742.2_5'UTR NM_007067.4 NP_008998.1 O95251 MYST2_HUMAN K(lysine) acetyltransferase 7 60 DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding AGTCCTGTTCGAAATCTGCAG 0.408000 15 146 0 0 1 0 0 CRBN 51185 broad.mit.edu 37 3 3214548 3214548 + Missense_Mutation SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr3:3214548C>T ENST00000231948.4 - 4 461 c.439G>A c.(439-441)Gaa>Aaa p.E147K CRBN_ENST00000432408.2_Missense_Mutation_p.E146K NM_016302.3 NP_057386.2 Q96SW2 CRBN_HUMAN cereblon 147 Lon. proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination Cul4A-RING ubiquitin ligase complex|cytoplasm|membrane|nucleus ATP-dependent peptidase activity|protein binding endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 11 Epithelial(13;0.00244)|OV - Ovarian serous cystadenocarcinoma(96;0.00617)|all cancers(10;0.0079) AAATCCTGTTCTTCTCGATAG 0.363000 8 53 0 0 1 0 0 DHCR24 1718 broad.mit.edu 37 1 55349324 55349324 + Silent SNP C C G TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr1:55349324C>G ENST00000371269.3 - 2 452 c.354G>C c.(352-354)ctG>ctC p.L118L DHCR24_ENST00000535035.1_Silent_p.L77L NM_014762.3 NP_055577.1 Q15392 DHC24_HUMAN 24-dehydrocholesterol reductase 118 FAD-binding PCMH-type. anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1) 7 GAATGTCCATCAGGTTGATCA 0.537000 26 211 0 0 1 0 0 CPXM1 56265 broad.mit.edu 37 20 2777179 2777179 + Missense_Mutation SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr20:2777179C>T ENST00000380605.2 - 8 1103 c.1039G>A c.(1039-1041)Gag>Aag p.E347K NM_001184699.1|NM_019609.4 NP_001171628.1|NP_062555.1 Q96SM3 CPXM1_HUMAN carboxypeptidase X (M14 family), member 1 347 cell adhesion|proteolysis metallocarboxypeptidase activity|zinc ion binding endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 GTACCCAGCTCATGCTCCCCA 0.612000 32 137 0 0 1 0 0 GTF3C2 2976 broad.mit.edu 37 2 27566241 27566241 + Missense_Mutation SNP C C G TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr2:27566241C>G ENST00000359541.2 - 2 610 c.181G>C c.(181-183)Gag>Cag p.E61Q GTF3C2_ENST00000264720.3_Missense_Mutation_p.E61Q Q8WUA4 TF3C2_HUMAN general transcription factor IIIC, polypeptide 2, beta 110kDa 61 transcription factor TFIIIC complex central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2) 38 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGAGAATCCTCAAATCCAGGC 0.488000 22 189 0 0 1 0 0 DSCAML1 57453 broad.mit.edu 37 11 117303881 117303881 + Missense_Mutation SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr11:117303881C>T ENST00000321322.6 - 29 5180 c.5179G>A c.(5179-5181)Gag>Aag p.E1727K DSCAML1_ENST00000527706.1_Missense_Mutation_p.E1457K NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1667 axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) TCTTTGTCCTCGATGAGCAGC 0.562000 5 32 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179632801 179632801 + Missense_Mutation SNP G G A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr2:179632801G>A ENST00000589042.1 - 39 9469 c.9245C>T c.(9244-9246)tCt>tTt p.S3082F TTN_ENST00000360870.5_Missense_Mutation_p.S3082F|TTN_ENST00000342175.6_Missense_Mutation_p.S3036F|TTN_ENST00000342992.6_Missense_Mutation_p.S3082F|TTN_ENST00000591111.1_Missense_Mutation_p.S3082F|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S3036F|TTN_ENST00000460472.2_Missense_Mutation_p.S3036F NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 2819 Ig-like 18. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTCAGGTTCAGAAACTTCACA 0.408000 7 51 0 0 1 0 0 SYMPK 8189 broad.mit.edu 37 19 46332275 46332275 + Silent SNP G G A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr19:46332275G>A ENST00000245934.7 - 14 2182 c.1938C>T c.(1936-1938)ctC>ctT p.L646L NM_004819.2 NP_004810.2 Q92797 SYMPK_HUMAN symplekin 646 cell adhesion|mRNA processing cytoplasm|cytoskeleton|nucleoplasm|tight junction protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1) 45 all_neural(266;0.0299)|Ovarian(192;0.0308) OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593) ACAGGCGGATGAGGCAGTCCT 0.652000 13 86 0 0 1 0 0 P2RY10 0 broad.mit.edu 37 X 78216918 78216918 + Missense_Mutation SNP G G A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chrX:78216918G>A ENST00000171757.2 + 4 1181 c.901G>A c.(901-903)Gat>Aat p.D301N P2RY10_ENST00000544091.1_Missense_Mutation_p.D301N NM_014499.2 NP_055314.1 O00398 P2Y10_HUMAN purinergic receptor P2Y, G-protein coupled, 10 301 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled p.D301N(1) breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2) 42 CTGCCTTTTGGATCCAATTCT 0.493000 17 161 0 0 1 0 0 TBC1D9 23158 broad.mit.edu 37 4 141600123 141600123 + Missense_Mutation SNP G G A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr4:141600123G>A ENST00000442267.2 - 5 898 c.824C>T c.(823-825)tCt>tTt p.S275F NM_015130.2 NP_055945.2 Q6ZT07 TBCD9_HUMAN TBC1 domain family, member 9 (with GRAM domain) 275 intracellular calcium ion binding|Rab GTPase activator activity endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 31 all_hematologic(180;0.162) Medulloblastoma(177;0.00498) TTTTTTAGGAGATTTCCTTTT 0.403000 13 118 0 0 1 0 0 HFM1 164045 broad.mit.edu 37 1 91779552 91779552 + Missense_Mutation SNP G G C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr1:91779552G>C ENST00000370425.3 - 29 3304 c.3206C>G c.(3205-3207)tCt>tGt p.S1069C HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000294696.5_Missense_Mutation_p.S301C|HFM1_ENST00000370424.3_Missense_Mutation_p.S748C NM_001017975.3 NP_001017975.3 A2PYH4 HFM1_HUMAN HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) 1069 SEC63. ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 75 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) AAGATCTTCAGATTTAAGAGC 0.274000 5 67 0 0 1 0 0 OLAH 55301 broad.mit.edu 37 10 15115119 15115119 + Missense_Mutation SNP T T C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr10:15115119T>C ENST00000378217.3 + 9 1035 c.848T>C c.(847-849)aTt>aCt p.I283T OLAH_ENST00000378228.3_Missense_Mutation_p.I230T|OLAH_ENST00000485251.1_3'UTR NM_018324.2 NP_060794.1 Q9NV23 SAST_HUMAN oleoyl-ACP hydrolase 230 fatty acid biosynthetic process myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity endometrium(2)|large_intestine(1)|lung(14)|stomach(1) 18 AATGCTAAAATTTACCAGCTT 0.368000 4 35 0 0 1 0 0 MKI67 4288 broad.mit.edu 37 10 129900912 129900912 + Missense_Mutation SNP C C G TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr10:129900912C>G ENST00000368654.3 - 13 9567 c.9192G>C c.(9190-9192)gaG>gaC p.E3064D MKI67_ENST00000368653.3_Missense_Mutation_p.E2704D NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 3064 cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) TGCTGTTCAGCTCTTCCGCAG 0.448000 10 92 0 0 1 0 0 ANGPTL1 9068 broad.mit.edu 37 1 178834847 178834847 + Missense_Mutation SNP C C G TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr1:178834847C>G ENST00000234816.2 - 3 512 c.65G>C c.(64-66)aGa>aCa p.R22T RALGPS2_ENST00000367634.2_Intron|ANGPTL1_ENST00000367629.1_Missense_Mutation_p.R22T|RALGPS2_ENST00000367635.3_Intron|RALGPS2_ENST00000324778.4_Intron NM_004673.3 NP_004664.1 O95841 ANGL1_HUMAN angiopoietin-like 1 22 extracellular space receptor binding breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1) 14 TTGTCCACCTCTGCAATGTCC 0.383000 5 77 0 0 1 0 0 SLC35B2 347734 broad.mit.edu 37 6 44224543 44224543 + Silent SNP C C A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr6:44224543C>A ENST00000393812.3 - 2 227 c.84G>T c.(82-84)ccG>ccT p.P28P SLC35B2_ENST00000537814.1_Intron|SLC35B2_ENST00000538577.1_5'UTR|SLC35B2_ENST00000495706.1_Intron|SLC35B2_ENST00000393810.1_Silent_p.P28P NM_178148.2 NP_835361.1 Q8TB61 S35B2_HUMAN solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2 28 positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1) 15 all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) TCCATGACTCCGGAGGGGCTT 0.577000 18 109 6.94344e-10 7.55099e-10 1 1 0 TGM4 7047 broad.mit.edu 37 3 44952512 44952512 + Missense_Mutation SNP G G C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr3:44952512G>C ENST00000296125.4 + 12 1737 c.1669G>C c.(1669-1671)Gat>Cat p.D557H NM_003241.3 NP_003232.2 P49221 TGM4_HUMAN transglutaminase 4 557 peptide cross-linking|protein polyamination acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 38 BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686) L-Glutamine(DB00130) TATATTAGATGATGAGCCAGT 0.463000 6 31 0 0 1 0 0 EIF4H 7458 broad.mit.edu 37 7 73588769 73588769 + Missense_Mutation SNP G G A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr7:73588769G>A ENST00000265753.8 + 1 195 c.56G>A c.(55-57)aGa>aAa p.R19K EIF4H_ENST00000353999.6_Missense_Mutation_p.R19K NM_022170.1 NP_071496.1 Q15056 IF4H_HUMAN eukaryotic translation initiation factor 4H 19 interspecies interaction between organisms|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm nucleotide binding|protein binding|translation initiation factor activity endometrium(1)|lung(2)|prostate(1) 4 GGCGGCGGCAGAGGGTGAGGC 0.746000 5 22 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170062596 170062596 + Missense_Mutation SNP G G A rs142613860 TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr2:170062596G>A ENST00000263816.3 - 40 7778 c.7493C>T c.(7492-7494)tCt>tTt p.S2498F NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 2498 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) AGTGCGGTTAGACCCATCTTC 0.438000 19 99 0 0 1 0 0 SLC25A40 55972 broad.mit.edu 37 7 87465580 87465580 + Missense_Mutation SNP C C T rs146277655 TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr7:87465580C>T ENST00000341119.5 - 12 1347 c.1001G>A c.(1000-1002)cGa>cAa p.R334Q NM_018843.3 NP_061331.2 Q8TBP6 S2540_HUMAN solute carrier family 25, member 40 334 transmembrane transport integral to membrane|mitochondrial inner membrane binding central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 17 Esophageal squamous(14;0.00202) TTGCTGCCTTCGAACATTTTG 0.368000 3 30 0 0 1 0 0 C1orf35 79169 broad.mit.edu 37 1 228288913 228288913 + Missense_Mutation SNP G G C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr1:228288913G>C ENST00000272139.4 - 8 945 c.711C>G c.(709-711)tgC>tgG p.C237W C1orf35_ENST00000472617.1_5'UTR NM_024319.2 NP_077295.1 Q9BU76 MMTA2_HUMAN chromosome 1 open reading frame 35 237 large_intestine(1)|lung(1)|skin(1) 3 Prostate(94;0.0488) TCCTCTTACAGCAGGGGGAGT 0.642000 6 59 0 0 1 0 0 RP11-262H14.1 0 broad.mit.edu 37 9 66458041 66458041 + RNA SNP G G A rs12352308 by1000genomes TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr9:66458041G>A ENST00000424345.1 + 0 67 GAGGTCCTGGGCTTCGGCTGG 0.697000 3 18 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 186008973 186008973 + Missense_Mutation SNP G G C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr1:186008973G>C ENST00000271588.4 + 39 6371 c.6142G>C c.(6142-6144)Gat>Cat p.D2048H HMCN1_ENST00000367492.2_Missense_Mutation_p.D2048H NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 2048 Ig-like C2-type 18. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 CTGGTTGAAAGATGGGAGTCC 0.433000 16 76 0 0 1 0 0 IL1R1 3554 broad.mit.edu 37 2 102792941 102792941 + Missense_Mutation SNP C C G TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr2:102792941C>G ENST00000410023.1 + 12 1750 c.1432C>G c.(1432-1434)Ctt>Gtt p.L478V IL1R1_ENST00000424272.1_3'UTR|IL1R1_ENST00000409929.1_Missense_Mutation_p.L447V|AC007271.3_ENST00000428188.1_RNA|IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000233946.3_Missense_Mutation_p.L478V P14778 IL1R1_HUMAN interleukin 1 receptor, type I 478 TIR. innate immune response integral to plasma membrane interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3) 19 Anakinra(DB00026) GTATAATGCTCTTGTTCAGGA 0.388000 5 45 0 0 1 0 0 GPAT2 150763 broad.mit.edu 37 2 96690526 96690526 + Nonsense_Mutation SNP G G A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr2:96690526G>A ENST00000434632.1 - 15 1882 c.1423C>T c.(1423-1425)Cag>Tag p.Q475* GPAT2_ENST00000359548.4_Nonsense_Mutation_p.Q475*|GPAT2_ENST00000377137.3_Nonsense_Mutation_p.Q475*|GPAT2_ENST00000453542.1_Nonsense_Mutation_p.Q404* Q6NUI2 GPAT2_HUMAN glycerol-3-phosphate acyltransferase 2, mitochondrial 475 glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process integral to membrane|mitochondrial outer membrane glycerol-3-phosphate O-acyltransferase activity NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3) 16 CCTACCTTCTGATGCTTGAAG 0.652000 22 265 0 0 1 0 0 VWF 7450 broad.mit.edu 37 12 6153567 6153567 + Missense_Mutation SNP C C T rs146892641 TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr12:6153567C>T ENST00000261405.5 - 18 2586 c.2332G>A c.(2332-2334)Gct>Act p.A778T NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 778 Amino-terminal.|TIL 3. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) AGGTTGTCAGCGGGACACACC 0.562000 16 30 0 0 1 0 0 IL4I1 259307 broad.mit.edu 37 19 50393136 50393136 + Missense_Mutation SNP G G A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr19:50393136G>A ENST00000595948.1 - 10 2181 c.1561C>T c.(1561-1563)Cgc>Tgc p.R521C IL4I1_ENST00000341114.3_Missense_Mutation_p.R521C|IL4I1_ENST00000391826.2_Missense_Mutation_p.R499C NM_001258018.1 NP_001244947.1 Q96RQ9 OXLA_HUMAN interleukin 4 induced 1 499 lysosome L-amino-acid oxidase activity endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 16 all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481) GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169) ATGGCGGCGCGCAGCGCCGAC 0.667000 10 30 0 0 1 0 0 PIP5K1C 23396 broad.mit.edu 37 19 3656427 3656427 + Silent SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr19:3656427C>T ENST00000335312.3 - 6 685 c.597G>A c.(595-597)caG>caA p.Q199Q PIP5K1C_ENST00000589578.1_Silent_p.Q199Q|PIP5K1C_ENST00000587482.1_5'UTR|PIP5K1C_ENST00000539785.1_Silent_p.Q199Q|PIP5K1C_ENST00000537021.1_Silent_p.Q199Q NM_001195733.1|NM_012398.2 NP_001182662.1|NP_036530.1 O60331 PI51C_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type I, gamma 199 PIPK. axon guidance cytosol|plasma membrane 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding large_intestine(3)|ovary(1)|skin(3)|stomach(2) 9 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183) GGAGCAGCTTCTGCAGGAACT 0.642000 11 58 0 0 1 0 0 CNPY4 245812 broad.mit.edu 37 7 99722494 99722494 + Missense_Mutation SNP G G A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr7:99722494G>A ENST00000262932.3 + 6 862 c.730G>A c.(730-732)Gac>Aac p.D244N CNPY4_ENST00000480692.1_3'UTR|RP11-506M12.1_ENST00000494221.1_RNA NM_152755.1 NP_689968.1 Q8N129 CNPY4_HUMAN canopy FGF signaling regulator 4 244 extracellular region breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 7 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CCCCAAACTTGACCGAGAAGA 0.557000 11 158 0 0 1 0 0 ZFP82 284406 broad.mit.edu 37 19 36896496 36896496 + Missense_Mutation SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr19:36896496C>T ENST00000392161.3 - 4 457 c.215G>A c.(214-216)aGa>aAa p.R72K ZFP82_ENST00000392171.1_Intron NM_133466.2 NP_597723.1 Q8N141 ZFP82_HUMAN ZFP82 zinc finger protein 72 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 ATATTGTCTTCTTCCTTTCCT 0.438000 7 38 0 0 1 0 0 DISC1 27185 broad.mit.edu 37 1 231935886 231935886 + Silent SNP G G A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr1:231935886G>A ENST00000439617.2 + 8 1775 c.1722G>A c.(1720-1722)ctG>ctA p.L574L TRAX_ENST00000602962.1_3'UTR|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000602281.1_Silent_p.L574L|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000366633.3_Silent_p.L574L|DISC1_ENST00000366636.4_Silent_p.L574L|DISC1_ENST00000535983.1_Silent_p.L574L|DISC1_ENST00000539444.1_Intron|DISC1_ENST00000537876.1_Intron NM_001164537.1|NM_001164540.1|NM_018662.2 NP_001158009.1|NP_001158012.1|NP_061132.2 Q9NRI5 DISC1_HUMAN disrupted in schizophrenia 1 574 Interaction with TRAF3IP1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.|Required for localization to punctate cytoplasmic foci. microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway centrosome|microtubule protein binding breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 15 all_cancers(173;0.0208)|Prostate(94;0.0975) GCAGCACCCTGAGGAAGAAAG 0.448000 4 51 0 0 1 0 0 PREX2 80243 broad.mit.edu 37 8 69103983 69103983 + Missense_Mutation SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr8:69103983C>T ENST00000288368.4 + 36 4650 c.4373C>T c.(4372-4374)tCa>tTa p.S1458L NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 1458 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 AAGTCAAATTCACCACCAAAC 0.303000 7 23 0 0 1 0 0 SDK1 221935 broad.mit.edu 37 7 4050669 4050669 + Missense_Mutation SNP C C G TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr7:4050669C>G ENST00000404826.2 + 15 2342 c.2203C>G c.(2203-2205)Ccg>Gcg p.P735A SDK1_ENST00000389531.3_Missense_Mutation_p.P735A NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 735 Fibronectin type-III 1. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) TGGCCTGACTCCGGCTCGTAC 0.572000 4 45 0 0 1 0 0 RAD52 5893 broad.mit.edu 37 12 1036411 1036411 + Missense_Mutation SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr12:1036411C>T ENST00000358495.3 - 6 505 c.367G>A c.(367-369)Gat>Aat p.D123N RAD52_ENST00000539046.1_Missense_Mutation_p.D46N|RAD52_ENST00000536177.1_Missense_Mutation_p.D123N|RAD52_ENST00000545564.1_Missense_Mutation_p.D123N|RAD52_ENST00000430095.2_Missense_Mutation_p.D123N NM_134424.2 NP_602296.2 P43351 RAD52_HUMAN RAD52 homolog (S. cerevisiae) 123 DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination nucleoplasm DNA binding|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987) OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323) TAACCAACATCTTCATGATAT 0.537000 Homologous recombination 15 238 0 0 1 0 0 YPEL4 219539 broad.mit.edu 37 11 57413814 57413814 + Missense_Mutation SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr11:57413814C>T ENST00000524669.1 - 4 2972 c.250G>A c.(250-252)Gac>Aac p.D84N YPEL4_ENST00000544993.1_Missense_Mutation_p.D84N|YPEL4_ENST00000534711.1_Missense_Mutation_p.D84N|YPEL4_ENST00000300022.3_Missense_Mutation_p.D84N|AP000662.4_ENST00000530595.1_RNA Q96NS1 YPEL4_HUMAN yippee-like 4 (Drosophila) 84 nucleolus lung(2)|skin(1) 3 CAGAAAATGTCAGCTACCGAG 0.567000 6 75 0 0 1 0 0 IDE 3416 broad.mit.edu 37 10 94294450 94294450 + Missense_Mutation SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr10:94294450C>T ENST00000265986.6 - 3 432 c.376G>A c.(376-378)Gaa>Aaa p.E126K NM_004969.3 NP_004960.2 P14735 IDE_HUMAN insulin-degrading enzyme 126 beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation cell surface|extracellular space|soluble fraction ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2) 33 Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TGGCTGTATTCATTTTCTTTA 0.368000 5 38 0 0 1 0 0 ZBTB11 27107 broad.mit.edu 37 3 101370146 101370146 + Missense_Mutation SNP G G C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr3:101370146G>C ENST00000312938.4 - 11 3606 c.3026C>G c.(3025-3027)tCt>tGt p.S1009C NM_014415.3 NP_055230.2 O95625 ZBT11_HUMAN zinc finger and BTB domain containing 11 1009 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 AGAAAGTGTAGATACCGATGG 0.418000 7 85 0 0 1 0 0 TMEM155 132332 broad.mit.edu 37 4 122682819 122682819 + Missense_Mutation SNP G G C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr4:122682819G>C ENST00000337677.5 - 5 644 c.86C>G c.(85-87)tCt>tGt p.S29C TMEM155_ENST00000394396.1_Missense_Mutation_p.S29C|TMEM155_ENST00000394394.1_Missense_Mutation_p.S29C NM_152399.2 NP_689612.2 Q4W5P6 TM155_HUMAN transmembrane protein 155 29 extracellular region breast(1)|lung(5) 6 AATCGCACCAGATGGCATCAG 0.423000 9 32 0 0 1 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121652283 121652283 + Missense_Mutation SNP G G C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr7:121652283G>C ENST00000393386.2 + 12 3594 c.3183G>C c.(3181-3183)gaG>gaC p.E1061D PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron NM_001206838.1|NM_002851.2 NP_001193767.1|NP_002842.2 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, Z polypeptide 1 1061 central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity p.E1061E(3) NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 CTTTCAATGAGATGGTTTACC 0.348000 10 83 0 0 1 0 0 HCFC1 3054 broad.mit.edu 37 X 153217411 153217411 + Missense_Mutation SNP G G A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chrX:153217411G>A ENST00000310441.7 - 20 6107 c.5141C>T c.(5140-5142)aCt>aTt p.T1714I HCFC1_ENST00000369984.4_Missense_Mutation_p.T1759I|HCFC1_ENST00000354233.3_Missense_Mutation_p.T1645I NM_005334.2 NP_005325.2 P51610 HCFC1_HUMAN host cell factor C1 (VP16-accessory protein) 1714 cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CAGGGCCTCAGTGGGGAGGTG 0.652000 6 16 0 0 1 0 0 FNIP1 96459 broad.mit.edu 37 5 131006169 131006169 + Missense_Mutation SNP G G C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr5:131006169G>C ENST00000307968.7 - 14 3010 c.3011C>G c.(3010-3012)tCt>tGt p.S1004C FNIP1_ENST00000307954.8_Missense_Mutation_p.S987C|FNIP1_ENST00000510461.1_Missense_Mutation_p.S1032C|FNIP1_ENST00000514667.1_Intron NM_001008738.2 NP_001008738.2 folliculin interacting protein 1 NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0665) CACAGCATGAGATAAATCTGA 0.418000 17 89 0 0 1 0 0 TIMELESS 8914 broad.mit.edu 37 12 56815774 56815774 + Missense_Mutation SNP C C G TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr12:56815774C>G ENST00000229201.4 - 21 2702 c.2548G>C c.(2548-2550)Gcc>Ccc p.A850P TIMELESS_ENST00000554616.1_Intron|TIMELESS_ENST00000553532.1_Missense_Mutation_p.A851P NM_003920.3 NP_003911.2 Q9UNS1 TIM_HUMAN timeless circadian clock 851 cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent nuclear chromatin NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 49 TTCAGGTGGGCCAAGATGGCT 0.537000 5 130 0 0 1 0 0 DCC 1630 broad.mit.edu 37 18 50936947 50936947 + Missense_Mutation SNP C C G TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr18:50936947C>G ENST00000442544.2 + 20 3677 c.3061C>G c.(3061-3063)Cga>Gga p.R1021G DCC_ENST00000581580.1_Missense_Mutation_p.R656G|DCC_ENST00000412726.1_Missense_Mutation_p.R849G NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 1021 Fibronectin type-III 6. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) GTATTACTTTCGAATTCAAGC 0.378000 8 58 0 0 1 0 0 BTNL8 79908 broad.mit.edu 37 5 180374588 180374588 + Silent SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr5:180374588C>T ENST00000231229.4 + 4 984 c.750C>T c.(748-750)ggC>ggT p.G250G BTNL8_ENST00000400707.3_Silent_p.G125G|BTNL8_ENST00000505126.1_Silent_p.G43G|BTNL8_ENST00000508408.1_Silent_p.G250G|BTNL8_ENST00000533815.2_Silent_p.G66G|BTNL8_ENST00000340184.4_Silent_p.G250G|BTNL8_ENST00000511704.1_Silent_p.G134G NM_001159708.1|NM_024850.2 NP_001153180.1|NP_079126.1 Q6UX41 BTNL8_HUMAN butyrophilin-like 8 250 integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TATTTTTTGGCATTGTTGGAC 0.463000 29 223 0 0 1 0 0 VPS13D 55187 broad.mit.edu 37 1 12401942 12401942 + Splice_Site SNP G G C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr1:12401942G>C ENST00000358136.3 + 41 8862 c.8732_splice c.e41+1 p.R2911_splice VPS13D_ENST00000356315.4_Splice_Site_p.R2886_splice NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 2910 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) ACACCCACCAGGTAAGCAGTC 0.577000 11 88 0 0 1 0 0 RRP36 88745 broad.mit.edu 37 6 42996873 42996873 + Silent SNP G G C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr6:42996873G>C ENST00000244496.5 + 7 697 c.687G>C c.(685-687)ctG>ctC p.L229L NM_033112.2 NP_149103.1 Q96EU6 RRP36_HUMAN ribosomal RNA processing 36 homolog (S. cerevisiae) 229 ribosomal small subunit biogenesis|rRNA processing nucleolus NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1) 11 TCAAGGAGCTGAAACGCAGCA 0.468000 23 256 0 0 1 0 0 SULF2 55959 broad.mit.edu 37 20 46293965 46293965 + Missense_Mutation SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr20:46293965C>T ENST00000359930.4 - 14 2826 c.1975G>A c.(1975-1977)Gaa>Aaa p.E659K SULF2_ENST00000467815.1_Missense_Mutation_p.E659K|SULF2_ENST00000484875.1_Missense_Mutation_p.E659K|SULF2_ENST00000361612.4_Missense_Mutation_p.E659K NM_018837.3 NP_061325.1 Q8IWU5 SULF2_HUMAN sulfatase 2 659 bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 CAGTCACATTCTTCTGGCCGC 0.507000 47 154 0 0 1 0 0 CHI3L1 1116 broad.mit.edu 37 1 203148584 203148584 + Missense_Mutation SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr1:203148584C>T ENST00000255409.3 - 10 1266 c.1141G>A c.(1141-1143)Gct>Act p.A381T NM_001276.2 NP_001267.2 P36222 CH3L1_HUMAN chitinase 3-like 1 (cartilage glycoprotein-39) 381 chitin catabolic process extracellular space|proteinaceous extracellular matrix cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1) 18 TACGTTGCAGCGAGTGCATCC 0.647000 10 123 0 0 1 0 0 NAV3 89795 broad.mit.edu 37 12 78400500 78400500 + Silent SNP G G T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr12:78400500G>T ENST00000397909.2 + 8 1355 c.1182G>T c.(1180-1182)cgG>cgT p.R394R NAV3_ENST00000228327.6_Silent_p.R394R|NAV3_ENST00000266692.7_Silent_p.R394R|NAV3_ENST00000536525.2_Silent_p.R394R Q8IVL0 NAV3_HUMAN neuron navigator 3 394 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 TCAATGCCCGGACTGCTTTAC 0.498000 HNSCC(70;0.22) 10 110 7.48243e-07 7.95808e-07 1 1 0 TNXB 7148 broad.mit.edu 37 6 32063827 32063827 + Missense_Mutation SNP C C A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr6:32063827C>A ENST00000375244.3 - 3 2004 c.1803G>T c.(1801-1803)caG>caT p.Q601H TNXB_ENST00000479795.1_Missense_Mutation_p.Q601H|TNXB_ENST00000375247.2_Missense_Mutation_p.Q601H P22105 TENX_HUMAN tenascin XB 601 EGF-like 15. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 ACACACCGTCCTGGCACACGC 0.647000 8 55 5.18039e-06 5.43005e-06 1 1 0 DBNDD2 55861 broad.mit.edu 37 20 44037201 44037201 + Missense_Mutation SNP G G C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr20:44037201G>C ENST00000372712.2 + 2 675 c.94G>C c.(94-96)Gag>Cag p.E32Q DBNDD2_ENST00000372710.3_Missense_Mutation_p.E134Q|DBNDD2_ENST00000372717.1_Missense_Mutation_p.E32Q|SYS1-DBNDD2_ENST00000475242.1_3'UTR|DBNDD2_ENST00000360981.4_Missense_Mutation_p.E32Q|DBNDD2_ENST00000357275.2_Missense_Mutation_p.E32Q|DBNDD2_ENST00000372722.3_Missense_Mutation_p.E32Q|SYS1-DBNDD2_ENST00000452133.1_3'UTR|DBNDD2_ENST00000372723.3_Missense_Mutation_p.E32Q|DBNDD2_ENST00000372720.3_Missense_Mutation_p.E130Q Q9BQY9 DBND2_HUMAN dysbindin (dystrobrevin binding protein 1) domain containing 2 130 negative regulation of protein kinase activity cytoplasm protein binding breast(1)|lung(2) 3 Myeloproliferative disorder(115;0.0122) GCCAGAGACAGAGTTTGTCTT 0.567000 9 87 0 0 1 0 0 PNLIPRP1 5407 broad.mit.edu 37 10 118354353 118354353 + Missense_Mutation SNP G G A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr10:118354353G>A ENST00000528052.1 + 5 513 c.442G>A c.(442-444)Gcc>Acc p.A148T PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.A148T|PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.A148T P54315 LIPR1_HUMAN pancreatic lipase-related protein 1 148 lipid metabolic process calcium ion binding|triglyceride lipase activity p.A148S(2) breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 38 all cancers(201;0.0161) CGCCCAGGTGGCCCAGATGCT 0.602000 8 26 0 0 1 0 0 HSPA4L 22824 broad.mit.edu 37 4 128741618 128741618 + Missense_Mutation SNP G G C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr4:128741618G>C ENST00000296464.3 + 14 2121 c.1710G>C c.(1708-1710)caG>caC p.Q570H HSPA4L_ENST00000439123.2_Missense_Mutation_p.Q601H|HSPA4L_ENST00000508776.1_Missense_Mutation_p.Q570H|HSPA4L_ENST00000515262.1_3'UTR|HSPA4L_ENST00000505726.1_Missense_Mutation_p.Q544H NM_014278.2 NP_055093.2 O95757 HS74L_HUMAN heat shock 70kDa protein 4-like 570 protein folding|response to unfolded protein cytoplasm|nucleus ATP binding|protein binding central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 31 GATTAAATCAGACACTTAAAA 0.338000 6 21 0 0 1 0 0 VNN2 8875 broad.mit.edu 37 6 133072608 133072608 + Missense_Mutation SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr6:133072608C>T ENST00000326499.6 - 5 1000 c.876G>A c.(874-876)atG>atA p.M292I VNN2_ENST00000525270.1_Missense_Mutation_p.M239I|VNN2_ENST00000525289.1_Intron NM_004665.2 NP_004656.2 O95498 VNN2_HUMAN vanin 2 292 CN hydrolase. cellular component movement|pantothenate metabolic process anchored to membrane|plasma membrane pantetheine hydrolase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267) ACTCTGTCTTCATGTCATAAT 0.428000 14 69 0 0 1 0 0 PEX12 5193 broad.mit.edu 37 17 33904942 33904942 + Silent SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr17:33904942C>T ENST00000225873.4 - 1 706 c.99G>A c.(97-99)gtG>gtA p.V33V NM_000286.2 NP_000277.1 O00623 PEX12_HUMAN peroxisomal biogenesis factor 12 33 protein import into peroxisome matrix integral to peroxisomal membrane protein C-terminus binding|zinc ion binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8) 18 UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) GAGCGGGTCTCACTGCTGTCA 0.463000 11 83 0 0 1 0 0 UBC 7316 broad.mit.edu 37 12 125396503 125396503 + Silent SNP G G A rs6657 TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr12:125396503G>A ENST00000536769.1 - 1 3391 c.1815C>T c.(1813-1815)ctC>ctT p.L605L UBC_ENST00000546120.1_Silent_p.L529L|UBC_ENST00000538617.1_Silent_p.L225L|UBC_ENST00000339647.5_Silent_p.L605L P0CG48 UBC_HUMAN ubiquitin C 605 Ubiquitin-like 8. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding p.L605L(1) breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) TCCCACCTCTGAGACGGAGCA 0.537000 5 169 0 0 1 0 0 QRFPR 84109 broad.mit.edu 37 4 122250697 122250697 + Missense_Mutation SNP G G C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr4:122250697G>C ENST00000394427.2 - 6 1479 c.1068C>G c.(1066-1068)ttC>ttG p.F356L QRFPR_ENST00000334383.5_3'UTR NM_198179.2 NP_937822.2 Q96P65 QRFPR_HUMAN pyroglutamylated RFamide peptide receptor 356 plasma membrane neuropeptide Y receptor activity endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1) 28 GTGCTGGAGAGAAGGTTTTAT 0.373000 8 69 0 0 1 0 0 WDR35 57539 broad.mit.edu 37 2 20114033 20114033 + Missense_Mutation SNP G G A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr2:20114033G>A ENST00000345530.3 - 27 3275 c.3160C>T c.(3160-3162)Cac>Tac p.H1054Y WDR35_ENST00000416055.2_Intron|WDR35_ENST00000281405.4_Missense_Mutation_p.H1043Y NM_001006657.1 NP_001006658.1 Q9P2L0 WDR35_HUMAN WD repeat domain 35 1054 breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCTTTCAGGTGAAGAGCTAAG 0.398000 8 61 0 0 1 0 0 NAGLU 4669 broad.mit.edu 37 17 40695097 40695097 + Missense_Mutation SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr17:40695097C>T ENST00000225927.2 + 6 1174 c.1073C>T c.(1072-1074)cCg>cTg p.P358L RP11-400F19.8_ENST00000585572.1_RNA NM_000263.3 NP_000254.2 P54802 ANAG_HUMAN N-acetylglucosaminidase, alpha 358 P -> L (in MPS3B). lysosome alpha-N-acetylglucosaminidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1) 12 all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344) BRCA - Breast invasive adenocarcinoma(366;0.13) N-Acetyl-D-glucosamine(DB00141) CAGCACCAGCCGCAGTTCTGG 0.617000 19 165 0 0 1 0 0 VAT1L 57687 broad.mit.edu 37 16 77859228 77859228 + Missense_Mutation SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr16:77859228C>T ENST00000302536.2 + 3 602 c.449C>T c.(448-450)cCg>cTg p.P150L NM_020927.1 NP_065978.1 Q9HCJ6 VAT1L_HUMAN vesicle amine transport 1-like 150 oxidoreductase activity|zinc ion binding central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 TACAAGATCCCGGATGACATG 0.522000 14 28 0 0 1 0 0 PRRC2A 7916 broad.mit.edu 37 6 31604698 31604698 + Missense_Mutation SNP C C G TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr6:31604698C>G ENST00000376033.2 + 28 6357 c.6123C>G c.(6121-6123)ttC>ttG p.F2041L PRRC2A_ENST00000376007.4_Missense_Mutation_p.F2041L NM_004638.3 NP_004629.3 P48634 PRC2A_HUMAN proline-rich coiled-coil 2A 2041 3 X 50 AA type C repeats. cytoplasm|nucleus protein binding breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 CCAGGCCCTTCCCCGCTAGCT 0.632000 12 128 0 0 1 0 0 ZSCAN21 7589 broad.mit.edu 37 7 99661659 99661659 + Missense_Mutation SNP G G A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr7:99661659G>A ENST00000292450.4 + 4 1005 c.841G>A c.(841-843)Gaa>Aaa p.E281K ZSCAN21_ENST00000456748.2_Intron|ZSCAN21_ENST00000543588.1_Intron|ZSCAN21_ENST00000477297.1_Intron|ZNF3_ENST00000413658.2_3'UTR NM_145914.2 NP_666019.1 Q9Y5A6 ZSC21_HUMAN zinc finger and SCAN domain containing 21 281 positive regulation of transcription, DNA-dependent|viral reproduction nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1) 21 Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439) STAD - Stomach adenocarcinoma(171;0.129) TATATGTGCTGAATGTGGCAA 0.453000 6 70 0 0 1 0 0 LSMEM1 286006 broad.mit.edu 37 7 112129968 112129968 + Silent SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr7:112129968C>T ENST00000312849.4 + 4 721 c.360C>T c.(358-360)ctC>ctT p.L120L LSMEM1_ENST00000486022.1_3'UTR|LSMEM1_ENST00000439068.2_Silent_p.L120L NM_182597.2 NP_872403.1 leucine-rich single-pass membrane protein 1 TAAAGCGACTCAACCAACTCA 0.388000 5 169 0 0 1 0 0 WDFY3 23001 broad.mit.edu 37 4 85642692 85642692 + Missense_Mutation SNP G G C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr4:85642692G>C ENST00000322366.6 - 46 7831 c.7424C>G c.(7423-7425)tCt>tGt p.S2475C WDFY3_ENST00000295888.4_Missense_Mutation_p.S2492C Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 2492 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) ATCAGGTGCAGATCGGGAGCG 0.498000 10 58 0 0 1 0 0 FAM21A 387680 broad.mit.edu 37 10 51892695 51892695 + Missense_Mutation SNP G G A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr10:51892695G>A ENST00000351071.6 + 30 4071 c.3953G>A c.(3952-3954)gGa>gAa p.G1318E FAM21A_ENST00000399339.2_Missense_Mutation_p.G1251E|FAM21A_ENST00000282633.5_Missense_Mutation_p.G1339E|FAM21A_ENST00000314664.7_Missense_Mutation_p.G1277E Q641Q2 FA21A_HUMAN family with sequence similarity 21, member A 1339 retrograde transport, endosome to Golgi early endosome membrane|WASH complex breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 15 AATGCCTTTGGAGGCCAGTAG 0.453000 12 47 0 0 1 0 0 FLNA 0 broad.mit.edu 37 X 153595790 153595790 + Silent SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chrX:153595790C>T ENST00000422373.1 - 5 1091 c.843G>A c.(841-843)ccG>ccA p.P281P FLNA_ENST00000344736.4_Silent_p.P281P|FLNA_ENST00000360319.4_Silent_p.P281P|FLNA_ENST00000369850.3_Silent_p.P281P NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha 281 actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding p.P281P(1) breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GGGCTTTCTTCGGGTTCAGTT 0.622000 11 88 0 0 1 0 0 PCNT 5116 broad.mit.edu 37 21 47831655 47831655 + Missense_Mutation SNP G G A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr21:47831655G>A ENST00000359568.5 + 28 5775 c.5668G>A c.(5668-5670)Gag>Aag p.E1890K PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 1890 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) CCACTCTGCCGAGCTGGAGGC 0.672000 9 35 0 0 1 0 0 ETHE1 23474 broad.mit.edu 37 19 44030378 44030378 + Missense_Mutation SNP C C G TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr19:44030378C>G ENST00000600651.1 - 3 373 c.350G>C c.(349-351)gGa>gCa p.G117A ETHE1_ENST00000292147.2_Missense_Mutation_p.G117A|ZNF575_ENST00000458714.2_5'UTR O95571 ETHE1_HUMAN ethylmalonic encephalopathy 1 117 mitochondrial matrix|nucleus hydrolase activity|metal ion binding central_nervous_system(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1) 5 Prostate(69;0.0153) GATGGAGTCTCCATCCTCAAT 0.612000 4 104 0 0 1 0 0 OR10G7 390265 broad.mit.edu 37 11 123909026 123909026 + Missense_Mutation SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr11:123909026C>T ENST00000330487.5 - 1 691 c.683G>A c.(682-684)cGc>cAc p.R228H NM_001004463.1 NP_001004463.1 Q8NGN6 O10G7_HUMAN olfactory receptor, family 10, subfamily G, member 7 228 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1) 47 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) CTCTGAGGTGCGGATCCGCAG 0.537000 36 85 0 0 1 0 0 ASTN1 460 broad.mit.edu 37 1 176845718 176845718 + Missense_Mutation SNP T T G TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr1:176845718T>G ENST00000367654.2 - 21 3455 c.3442A>C c.(3442-3444)Atc>Ctc p.I1148L ASTN1_ENST00000361833.2_Missense_Mutation_p.I1140L|ASTN1_ENST00000424564.2_Missense_Mutation_p.I1140L|ASTN1_ENST00000367657.3_Missense_Mutation_p.I1140L O14525 ASTN1_HUMAN astrotactin 1 1148 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 GTCTTCACGATCACGTCGCTT 0.582000 7 62 0 0 1 0 0 CIDECP 0 broad.mit.edu 37 3 10059465 10059465 + RNA SNP C C G TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr3:10059465C>G ENST00000432401.1 - 0 505 CCTCCTCACTCAGGGTCCTGT 0.632000 3 20 0 0 1 0 0 PCNT 5116 broad.mit.edu 37 21 47831205 47831205 + Missense_Mutation SNP G G C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr21:47831205G>C ENST00000359568.5 + 28 5325 c.5218G>C c.(5218-5220)Gaa>Caa p.E1740Q PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 1740 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) AGAGGAAATTGAACAACTCCA 0.468000 14 95 0 0 1 0 0 ZNF610 162963 broad.mit.edu 37 19 52869526 52869526 + Missense_Mutation SNP G G C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr19:52869526G>C ENST00000601151.1 + 5 1218 c.766G>C c.(766-768)Gag>Cag p.E256Q ZNF610_ENST00000327920.8_Missense_Mutation_p.E299Q|ZNF610_ENST00000321287.8_Missense_Mutation_p.E299Q|ZNF610_ENST00000403906.3_Missense_Mutation_p.E299Q NM_001161427.1 NP_001154899.1 Q8N9Z0 ZN610_HUMAN zinc finger protein 610 299 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2) 34 OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434) AGCTTTTAGAGAGTGTTCGGG 0.398000 7 30 0 0 1 0 0 EIF2S2 8894 broad.mit.edu 37 20 32677668 32677668 + Silent SNP G G A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr20:32677668G>A ENST00000374980.2 - 9 1091 c.870C>T c.(868-870)atC>atT p.I290I NM_003908.3 NP_003899.2 P20042 IF2B_HUMAN eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa 290 cytosol|eukaryotic translation initiation factor 2 complex metal ion binding|protein binding|translation initiation factor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1) 11 CCTTCTGCAGGATTGTGTCCG 0.473000 4 81 0 0 1 0 0 PTCHD2 57540 broad.mit.edu 37 1 11589956 11589956 + Silent SNP C C G TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr1:11589956C>G ENST00000294484.6 + 15 3180 c.3042C>G c.(3040-3042)gtC>gtG p.V1014V PTCHD2_ENST00000389575.3_Silent_p.V1014V NM_020780.1 NP_065831.1 Q9P2K9 PTHD2_HUMAN patched domain containing 2 1014 cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) TCTTTGTGGTCTTCGGCATTA 0.647000 10 85 0 0 1 0 0 IGKV1-33 0 broad.mit.edu 37 2 89568211 89568211 + RNA SNP G G C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr2:89568211G>C ENST00000473726.1 - 0 52 CCCAGGAGCTGAGCAGGGACC 0.557000 7 61 0 0 1 0 0 KIAA0753 9851 broad.mit.edu 37 17 6502605 6502605 + Missense_Mutation SNP C C G TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr17:6502605C>G ENST00000361413.3 - 14 2482 c.2124G>C c.(2122-2124)ttG>ttC p.L708F KIAA0753_ENST00000575027.1_5'UTR|KIAA0753_ENST00000542606.1_Missense_Mutation_p.L409F|KIAA0753_ENST00000589033.1_Missense_Mutation_p.L164F|KIAA0753_ENST00000572370.1_Missense_Mutation_p.L409F NM_014804.2 NP_055619.2 Q2KHM9 K0753_HUMAN KIAA0753 708 centrosome endometrium(4)|large_intestine(11)|lung(5)|prostate(4) 24 COAD - Colon adenocarcinoma(228;0.157) AGCCATCTTTCAAATGAATAT 0.363000 5 34 0 0 1 0 0 CAPN11 11131 broad.mit.edu 37 6 44144372 44144372 + Missense_Mutation SNP G G C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr6:44144372G>C ENST00000542245.1 + 10 1094 c.1056G>C c.(1054-1056)aaG>aaC p.K352N CAPN11_ENST00000398776.1_Missense_Mutation_p.K352N Q9UMQ6 CAN11_HUMAN calpain 11 352 Calpain catalytic. proteolysis acrosomal vesicle calcium ion binding|calcium-dependent cysteine-type endopeptidase activity breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1) 36 all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) TGCTGCACAAGACGGAGGACG 0.627000 11 68 0 0 1 0 0 SMARCC2 6601 broad.mit.edu 37 12 56566438 56566438 + Silent SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr12:56566438C>T ENST00000394023.3 - 19 1899 c.1794G>A c.(1792-1794)gaG>gaA p.E598E SMARCC2_ENST00000347471.4_Silent_p.E598E|SMARCC2_ENST00000267064.4_Silent_p.E567E|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550164.1_Silent_p.E598E NM_001130420.1 NP_001123892.1 Q8TAQ2 SMRC2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 567 SANT. chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex DNA binding|protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(18;0.123) CTGTTGGTTTCTCTTTGCCTT 0.498000 13 131 0 0 1 0 0 SLU7 10569 broad.mit.edu 37 5 159830471 159830471 + Splice_Site SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr5:159830471C>T ENST00000297151.4 - 16 1969 c.1581_splice c.e16-1 p.A528_splice NM_006425.4 NP_006416.3 O95391 SLU7_HUMAN SLU7 splicing factor homolog (S. cerevisiae) 528 alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1) 20 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GCGTTCAGTGCCTATAGTGAG 0.458000 58 72 0 0 1 0 0 MICAL2 9645 broad.mit.edu 37 11 12280035 12280035 + Missense_Mutation SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr11:12280035C>T ENST00000256194.4 + 25 3451 c.3163C>T c.(3163-3165)Cac>Tac p.H1055Y MICAL2_ENST00000537344.1_Missense_Mutation_p.H865Y|MICAL2_ENST00000342902.5_Missense_Mutation_p.H1034Y|MICAL2_ENST00000527546.1_Missense_Mutation_p.H865Y|MICAL2_ENST00000379612.3_Missense_Mutation_p.H829Y NM_014632.2 NP_055447.1 O94851 MICA2_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 2 1055 LIM zinc-binding. cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 47 Epithelial(150;0.00552) CTGCAAGCCTCACTTCATTCA 0.418000 4 84 0 0 1 0 0 POF1B 79983 broad.mit.edu 37 X 84601021 84601021 + Missense_Mutation SNP G G A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chrX:84601021G>A ENST00000262753.4 - 6 713 c.568C>T c.(568-570)Cat>Tat p.H190Y POF1B_ENST00000373145.3_Missense_Mutation_p.H190Y NM_024921.3 NP_079197.3 Q8WVV4 POF1B_HUMAN premature ovarian failure, 1B 190 actin binding central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1) 35 ATAATGTGATGATGGCATTGA 0.438000 5 47 0 0 1 0 0 SDF4 51150 broad.mit.edu 37 1 1152961 1152961 + Silent SNP G G C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr1:1152961G>C ENST00000360001.6 - 7 1282 c.1020C>G c.(1018-1020)ctC>ctG p.L340L SDF4_ENST00000263741.7_3'UTR Q9BRK5 CAB45_HUMAN stromal cell derived factor 4 340 EF-hand 6.|Necessary for intracellular retention in Golgi apparatus lumen (By similarity). cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis bleb|Golgi lumen|late endosome|soluble fraction calcium ion binding|identical protein binding|protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 11 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204) CGCTGTACTTGAGCACCTCCT 0.662000 9 60 0 0 1 0 0 FBXW7 0 broad.mit.edu 37 4 153249385 153249385 + Missense_Mutation SNP G G A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr4:153249385G>A ENST00000281708.4 - 9 2622 c.1393C>T c.(1393-1395)Cgt>Tgt p.R465C FBXW7_ENST00000296555.5_Missense_Mutation_p.R347C|FBXW7_ENST00000263981.5_Missense_Mutation_p.R385C|FBXW7_ENST00000393956.3_Missense_Mutation_p.R289C|FBXW7_ENST00000603841.1_Missense_Mutation_p.R465C|FBXW7_ENST00000603548.1_Missense_Mutation_p.R465C NM_033632.3 NP_361014.1 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 465 R -> C (in a acute lymphoblastic leukemia cell line).|R -> H (in a colorectal cancer sample; somatic mutation). interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleoplasm|SCF ubiquitin ligase complex protein binding p.R465C(71)|p.R226C(11)|p.R385C(11)|p.R347C(3)|p.R465Y(2)|p.?(1) NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) TGCATACAACGCACAGTGGAA 0.413000 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 51 72 0 0 1 0 0 RALGAPB 57148 broad.mit.edu 37 20 37146598 37146598 + Missense_Mutation SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr20:37146598C>T ENST00000262879.6 + 9 1656 c.1372C>T c.(1372-1374)Cac>Tac p.H458Y RALGAPB_ENST00000397038.1_Missense_Mutation_p.H236Y|RALGAPB_ENST00000537204.1_Missense_Mutation_p.H458Y|RALGAPB_ENST00000397040.1_Missense_Mutation_p.H458Y|RALGAPB_ENST00000397042.3_Missense_Mutation_p.H458Y Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit (non-catalytic) 458 activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 AGCATTTGTTCACTGTAAACT 0.388000 9 70 0 0 1 0 0 FANCM 57697 broad.mit.edu 37 14 45665636 45665636 + Missense_Mutation SNP C C G TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr14:45665636C>G ENST00000267430.5 + 21 5687 c.5602C>G c.(5602-5604)Caa>Gaa p.Q1868E FANCM_ENST00000542564.2_Missense_Mutation_p.Q1842E NM_020937.2 NP_065988.1 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 1868 Interaction with FAAP24 and EME1. DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 85 AAGGAGGTCTCAATCTGAGAT 0.403000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 8 66 0 0 1 0 0 CNR1 0 broad.mit.edu 37 6 88854953 88854953 + Missense_Mutation SNP C C A rs142010122 TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr6:88854953C>A ENST00000537554.1 - 2 3603 c.41G>T c.(40-42)cGc>cTc p.R14L CNR1_ENST00000369499.2_Missense_Mutation_p.R14L|CNR1_ENST00000549890.1_Missense_Mutation_p.R14L|CNR1_ENST00000535130.1_Missense_Mutation_p.R14L|CNR1_ENST00000428600.2_Missense_Mutation_p.R14L|CNR1_ENST00000549716.1_Missense_Mutation_p.A9S|CNR1_ENST00000362094.5_Missense_Mutation_p.R14L|CNR1_ENST00000369501.2_Missense_Mutation_p.R14L|CNR1_ENST00000468898.1_Missense_Mutation_p.R14L NM_001160226.1|NM_001160258.1 NP_001153698.1|NP_001153730.1 P21554 CNR1_HUMAN cannabinoid receptor 1 (brain) 14 G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane cannabinoid receptor activity|protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1) 37 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.15) Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155) GGTGATGGTGCGGAAGGTGGT 0.483000 11 118 3.07112e-06 3.2269e-06 1 1 0 MACF1 23499 broad.mit.edu 37 1 39919466 39919466 + Missense_Mutation SNP G G A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr1:39919466G>A ENST00000564288.1 + 88 21607 c.20830G>A c.(20830-20832)Gat>Aat p.D6944N MACF1_ENST00000539005.1_Missense_Mutation_p.D4755N|MACF1_ENST00000361689.2_Missense_Mutation_p.D4885N|MACF1_ENST00000289893.4_Missense_Mutation_p.D5387N|MACF1_ENST00000317713.7_Missense_Mutation_p.D4885N|MACF1_ENST00000545844.1_Missense_Mutation_p.D4885N|MACF1_ENST00000372915.3_Missense_Mutation_p.D6843N|MACF1_ENST00000567887.1_Missense_Mutation_p.D6981N Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 6843 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CTGCCACCCCGATTGCATCAC 0.498000 93 194 0 0 1 0 0 ABCA2 20 broad.mit.edu 37 9 139910184 139910184 + Missense_Mutation SNP C C G TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr9:139910184C>G ENST00000265662.5 - 23 3604 c.3457G>C c.(3457-3459)Ggc>Cgc p.G1153R ABCA2_ENST00000341511.6_Missense_Mutation_p.G1153R|ABCA2_ENST00000371605.3_Missense_Mutation_p.G1152R Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A (ABC1), member 2 1152 ABC transporter 1. cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 41 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) GGGTCCACGCCCGCCGTGGGC 0.692000 5 33 0 0 1 0 0 KCTD1 284252 broad.mit.edu 37 18 24081165 24081165 + Missense_Mutation SNP G G C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr18:24081165G>C ENST00000417602.1 - 2 1858 c.1859C>G c.(1858-1860)tCt>tGt p.S620C KCTD1_ENST00000317932.7_Missense_Mutation_p.S12C|KCTD1_ENST00000579973.1_Missense_Mutation_p.S12C|KCTD1_ENST00000408011.3_Missense_Mutation_p.S12C|KCTD1_ENST00000580059.1_Missense_Mutation_p.S12C NM_001142730.2 NP_001136202.1 Q719H9 KCTD1_HUMAN potassium channel tetramerization domain containing 1 12 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|voltage-gated potassium channel complex transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3) 12 all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848) Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05) GTTCAGTGGAGATGCAGGGGA 0.478000 6 114 0 0 1 0 0 TFAP2E 339488 broad.mit.edu 37 1 36060202 36060202 + Missense_Mutation SNP G G C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr1:36060202G>C ENST00000373235.3 + 7 1462 c.1254G>C c.(1252-1254)aaG>aaC p.K418N NM_178548.3 NP_848643.2 Q6VUC0 AP2E_HUMAN transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon) 418 nucleus DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(1) 2 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196) GGCTGGACAAGATGTTTCTAA 0.542000 16 128 0 0 1 0 0 DCLRE1A 9937 broad.mit.edu 37 10 115608914 115608914 + Missense_Mutation SNP C C G TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr10:115608914C>G ENST00000361384.2 - 2 2867 c.1950G>C c.(1948-1950)caG>caC p.Q650H DCLRE1A_ENST00000369305.1_Missense_Mutation_p.Q650H NM_014881.3 NP_055696.3 Q6PJP8 DCR1A_HUMAN DNA cross-link repair 1A 650 cell division|mitosis nucleus hydrolase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1) 31 Epithelial(162;0.0157)|all cancers(201;0.0171) CTGATCTCTTCTGACACGCTC 0.413000 Other identified genes with known or suspected DNA repair function 20 124 0 0 1 0 0 HEPH 9843 broad.mit.edu 37 X 65483502 65483502 + Silent SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chrX:65483502C>T ENST00000519389.1 + 20 3557 c.3378C>T c.(3376-3378)ctC>ctT p.L1126L HEPH_ENST00000441993.2_Silent_p.L1075L|HEPH_ENST00000343002.2_Silent_p.L1072L|HEPH_ENST00000336279.5_Silent_p.L805L|HEPH_ENST00000419594.1_Silent_p.L883L|HEPH_ENST00000374727.3_Silent_p.L1075L Q9BQS7 HEPH_HUMAN hephaestin 1072 cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 TAAGCCCTCTCACCGTCATCA 0.443000 6 62 0 0 1 0 0 SPG11 80208 broad.mit.edu 37 15 44876090 44876090 + Missense_Mutation SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr15:44876090C>T ENST00000261866.7 - 30 5804 c.5788G>A c.(5788-5790)Gag>Aag p.E1930K SPG11_ENST00000427534.2_Missense_Mutation_p.E1930K|SPG11_ENST00000558319.1_Missense_Mutation_p.E1930K|SPG11_ENST00000535302.2_Missense_Mutation_p.E1930K NM_025137.3 NP_079413.3 Q96JI7 SPTCS_HUMAN spastic paraplegia 11 (autosomal recessive) 1930 cell death cytosol|integral to membrane|nucleus protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 72 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) GCATGGATCTCTGGGTGCAGA 0.498000 27 70 0 0 1 0 0 SH2B3 10019 broad.mit.edu 37 12 111886103 111886103 + Silent SNP C C A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr12:111886103C>A ENST00000341259.2 + 8 2082 c.1725C>A c.(1723-1725)ctC>ctA p.L575L SH2B3_ENST00000538307.1_Silent_p.L373L NM_005475.2 NP_005466.1 Q9UQQ2 SH2B3_HUMAN SH2B adaptor protein 3 575 blood coagulation cytosol signal transducer activity central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1) 10 ACACACCTCTCTGACCAGTGA 0.532000 4 30 0.150653 0.151001 1 1 0 GNAI3 2773 broad.mit.edu 37 1 110121874 110121874 + Missense_Mutation SNP G G A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr1:110121874G>A ENST00000369851.4 + 4 462 c.352G>A c.(352-354)Gtc>Atc p.V118I NM_006496.3 NP_006487.1 P08754 GNAI3_HUMAN guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3 118 cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission centrosome|heterotrimeric G-protein complex|midbody G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity NS(1)|endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 12 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237) TGAAGAAGGAGTCATGACTCC 0.443000 8 87 0 0 1 0 0 ASUN 55726 broad.mit.edu 37 12 27066540 27066540 + Missense_Mutation SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr12:27066540C>T ENST00000261191.7 - 14 2191 c.1655G>A c.(1654-1656)aGa>aAa p.R552K ASUN_ENST00000539625.1_Missense_Mutation_p.R451K NM_018164.2 NP_060634.2 Q9NVM9 M89BB_HUMAN asunder spermatogenesis regulator 552 cell division|mitosis|regulation of mitotic cell cycle protein binding TTCCAAGACTCTTTGATGTTT 0.433000 18 251 0 0 1 0 0 ACACA 31 broad.mit.edu 37 17 35640260 35640260 + Missense_Mutation SNP G G C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr17:35640260G>C ENST00000353139.5 - 5 999 c.518C>G c.(517-519)tCt>tGt p.S173C ACACA_ENST00000394406.2_Missense_Mutation_p.S136C|ACACA_ENST00000360679.3_Missense_Mutation_p.S78C|ACACA_ENST00000335166.5_Missense_Mutation_p.S58C NM_198834.1|NM_198839.1 NP_942131.1|NP_942136.1 Q13085 ACACA_HUMAN acetyl-CoA carboxylase alpha 136 Biotin carboxylation. acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) CCTACGGATAGACCGCATGCA 0.438000 7 57 0 0 1 0 0 ATP8B3 148229 broad.mit.edu 37 19 1796753 1796753 + Missense_Mutation SNP G G C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr19:1796753G>C ENST00000539485.1 - 16 1943 c.1710C>G c.(1708-1710)atC>atG p.I570M ATP8B3_ENST00000525591.1_Missense_Mutation_p.I523M|ATP8B3_ENST00000310127.6_Missense_Mutation_p.I570M O60423 AT8B3_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 3 570 ATP biosynthetic process ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 23 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCGTGTGGCAGATGGCCAGCA 0.716000 7 32 0 0 1 0 0 SEC23B 10483 broad.mit.edu 37 20 18534978 18534978 + Missense_Mutation SNP C C G TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr20:18534978C>G ENST00000336714.3 + 18 2524 c.2092C>G c.(2092-2094)Ctg>Gtg p.L698V SEC23B_ENST00000377475.3_Missense_Mutation_p.L698V|SEC23B_ENST00000377465.1_Missense_Mutation_p.L698V|SEC23B_ENST00000262544.2_Missense_Mutation_p.L698V NM_006363.4|NM_032985.4|NM_032986.3 NP_006354.2|NP_116780.1|NP_116781.1 Q15437 SC23B_HUMAN Sec23 homolog B (S. cerevisiae) 698 ER to Golgi vesicle-mediated transport|intracellular protein transport COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 32 TCAAGAAATTCTGCAAGCACG 0.512000 4 97 0 0 1 0 0 ZNF227 7770 broad.mit.edu 37 19 44740795 44740795 + Missense_Mutation SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr19:44740795C>T ENST00000313040.7 + 6 2417 c.2212C>T c.(2212-2214)Cac>Tac p.H738Y ZNF235_ENST00000589799.1_3'UTR|ZNF227_ENST00000391961.2_Missense_Mutation_p.H687Y|ZNF227_ENST00000589005.1_Missense_Mutation_p.H687Y NM_182490.1 NP_872296.1 Q86WZ6 ZN227_HUMAN zinc finger protein 227 738 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1) 24 Prostate(69;0.0435) CCTGGGTGTTCACACCAGGGA 0.498000 5 96 0 0 1 0 0 C5orf38 153571 broad.mit.edu 37 5 2755234 2755234 + Missense_Mutation SNP G G C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr5:2755234G>C ENST00000397835.4 + 3 425 c.425G>C c.(424-426)gGa>gCa p.G142A C5orf38_ENST00000334000.3_3'UTR Q86SI9 CEI_HUMAN chromosome 5 open reading frame 38 0 extracellular region endometrium(2)|large_intestine(1)|lung(1) 4 GBM - Glioblastoma multiforme(108;0.205) GCCGGCCCCGGAGGCTCGGGC 0.701000 7 63 0 0 1 0 0 TRA2A 29896 broad.mit.edu 37 7 23561449 23561449 + Missense_Mutation SNP G G C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr7:23561449G>C ENST00000297071.4 - 2 263 c.47C>G c.(46-48)tCt>tGt p.S16C TRA2A_ENST00000474586.1_5'UTR|TRA2A_ENST00000538367.1_5'UTR|TRA2A_ENST00000392502.4_5'UTR NM_013293.3 NP_037425.1 Q13595 TRA2A_HUMAN transformer 2 alpha homolog (Drosophila) 16 nuclear mRNA splicing, via spliceosome nucleus nucleotide binding|RNA binding endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1) 10 TTTTGACTGAGAGCGAGACTC 0.418000 4 50 0 0 1 0 0 ITSN2 50618 broad.mit.edu 37 2 24484527 24484527 + Missense_Mutation SNP C C G TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr2:24484527C>G ENST00000355123.4 - 21 2883 c.2440G>C c.(2440-2442)Gaa>Caa p.E814Q ITSN2_ENST00000406921.3_Missense_Mutation_p.E814Q|ITSN2_ENST00000361999.3_Missense_Mutation_p.E787Q NM_006277.2 NP_006268.2 Q9NZM3 ITSN2_HUMAN intersectin 2 814 SH3 1. endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1) 61 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGCATTTTTTCTACATAATTG 0.378000 6 37 0 0 1 0 0 RIN2 54453 broad.mit.edu 37 20 19956199 19956199 + Silent SNP G G A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr20:19956199G>A ENST00000255006.6 + 8 1826 c.1677G>A c.(1675-1677)ccG>ccA p.P559P RIN2_ENST00000440354.2_Intron|RIN2_ENST00000484638.1_3'UTR NM_001242581.1|NM_018993.3 NP_001229510.1|NP_061866.1 Q8WYP3 RIN2_HUMAN Ras and Rab interactor 2 510 endocytosis|small GTPase mediated signal transduction cytoplasm GTPase activator activity|Rab guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 27 TCATGACCCCGGAGAAGCGGA 0.572000 16 136 0 0 1 0 0 IRS1 3667 broad.mit.edu 37 2 227662588 227662588 + Silent SNP G G C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr2:227662588G>C ENST00000305123.4 - 1 1887 c.867C>G c.(865-867)ctC>ctG p.L289L NM_005544.2 NP_005535.1 P35568 IRS1_HUMAN insulin receptor substrate 1 289 Ser-rich. fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity caveola|cytosol|insulin receptor complex|microsome|nucleus insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2) 69 Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23) Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137) GGGGATTGTTGAGATGGTGCC 0.672000 OREG0015248 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 108 0 0 1 0 0 TRHDE 29953 broad.mit.edu 37 12 72969145 72969145 + Missense_Mutation SNP G G C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr12:72969145G>C ENST00000261180.4 + 11 2203 c.2107G>C c.(2107-2109)Gat>Cat p.D703H TRHDE_ENST00000549138.1_3'UTR NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 703 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 ATTATTAATTGATCAATTAAT 0.343000 10 46 0 0 1 0 0 SLC8A3 6547 broad.mit.edu 37 14 70633450 70633450 + Missense_Mutation SNP C C T rs76086886 by1000genomes TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr14:70633450C>T ENST00000381269.2 - 2 2443 c.1690G>A c.(1690-1692)Gtc>Atc p.V564I SLC8A3_ENST00000357887.3_Missense_Mutation_p.V564I|SLC8A3_ENST00000534137.1_Missense_Mutation_p.V564I|SLC8A3_ENST00000528359.1_Missense_Mutation_p.V564I|SLC8A3_ENST00000356921.2_Missense_Mutation_p.V564I NM_058240.2|NM_183002.1 NP_489479.1|NP_892114.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 564 Calx-beta 2. cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) CTAAAGGGGACGATGACTGTA 0.468000 9 49 0 0 1 0 0 NPC1L1 29881 broad.mit.edu 37 7 44571714 44571714 + Missense_Mutation SNP G G C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr7:44571714G>C ENST00000289547.4 - 9 2567 c.2512C>G c.(2512-2514)Ccc>Gcc p.P838A NPC1L1_ENST00000546276.1_Missense_Mutation_p.P838A|NPC1L1_ENST00000381160.3_Missense_Mutation_p.P838A NM_013389.2 NP_037521.2 Q9UHC9 NPCL1_HUMAN NPC1-like 1 838 cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 57 Ezetimibe(DB00973) AGCAGGAAGGGGGCATAAGCC 0.642000 25 71 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625875 29625875 + Missense_Mutation SNP T T C rs143761036 by1000genomes TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 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 4 90 0 0 1 0 0 SEPT2 4735 broad.mit.edu 37 2 242274603 242274603 + Missense_Mutation SNP G G A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr2:242274603G>A ENST00000391973.2 + 4 721 c.193G>A c.(193-195)Gaa>Aaa p.E65K SEPT2_ENST00000360051.3_Missense_Mutation_p.E65K|SEPT2_ENST00000402092.2_Missense_Mutation_p.E65K|SEPT2_ENST00000391971.2_Missense_Mutation_p.E65K|SEPT2_ENST00000401990.1_Missense_Mutation_p.E65K|SEPT2_ENST00000407971.1_Missense_Mutation_p.E25K NM_006155.1 NP_006146.1 Q15019 SEPT2_HUMAN septin 2 65 cell division|mitosis actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle GTP binding central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2) 12 all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889) TCTGTACCCAGAAAGAGTCAT 0.348000 3 17 0 0 1 0 0 UBXN1 51035 broad.mit.edu 37 11 62444465 62444465 + Missense_Mutation SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr11:62444465C>T ENST00000294119.2 - 8 795 c.664G>A c.(664-666)Gat>Aat p.D222N UBXN1_ENST00000533000.1_Intron|UBXN1_ENST00000529640.1_Missense_Mutation_p.D218N|UBXN1_ENST00000524762.1_5'UTR|UBXN1_ENST00000301935.5_Missense_Mutation_p.D222N NM_015853.3 NP_056937.2 Q04323 UBXN1_HUMAN UBX domain protein 1 222 Interaction with BRCA1.|UBX. negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process cytoplasm ATPase binding|K6-linked polyubiquitin binding endometrium(5)|lung(12) 17 GAGGTCCCATCTGGCAGCCTG 0.582000 10 84 0 0 1 0 0 RAC1 5879 broad.mit.edu 37 7 6431634 6431634 + Missense_Mutation SNP G G C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr7:6431634G>C ENST00000348035.4 + 3 400 c.187G>C c.(187-189)Gat>Cat p.D63H RAC1_ENST00000488373.1_3'UTR|RAC1_ENST00000356142.4_Missense_Mutation_p.D63H NM_006908.4 NP_008839.2 P63000 RAC1_HUMAN ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) 63 D -> G (in dbSNP:rs5831). actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction cytosol|melanosome|plasma membrane GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 8 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.104) Pravastatin(DB00175)|Simvastatin(DB00641) TGGACAAGAAGATTATGACAG 0.393000 38 59 0 0 1 0 0 CNKSR2 22866 broad.mit.edu 37 X 21581355 21581355 + Splice_Site SNP G G C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chrX:21581355G>C ENST00000425654.2 + 12 1783 c.e12-1 CNKSR2_ENST00000279451.4_Splice_Site|CNKSR2_ENST00000379510.3_Splice_Site|CNKSR2_ENST00000485012.1_Splice_Site|CNKSR2_ENST00000543067.1_Splice_Site NM_001168647.1 NP_001162118.1 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 2 regulation of signal transduction cytoplasm|membrane protein binding breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3) 61 TTTTTATATAGAAAACTCTCT 0.323000 4 29 0 0 1 0 0 TRAK2 66008 broad.mit.edu 37 2 202245467 202245467 + Missense_Mutation SNP C C G TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr2:202245467C>G ENST00000332624.3 - 16 2972 c.2544G>C c.(2542-2544)aaG>aaC p.K848N NM_015049.2 NP_055864.2 O60296 TRAK2_HUMAN trafficking protein, kinesin binding 2 848 Missing (in Ref. 2). early endosome|plasma membrane GABA receptor binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1) 23 CACCAGGGTTCTTGACCACTC 0.478000 12 96 0 0 1 0 0 AD000671.6 0 broad.mit.edu 37 19 36231466 36231466 + Splice_Site SNP C C G rs112857545 TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr19:36231466C>G ENST00000589807.1 - 9 986 c.e9-1 IGFLR1_ENST00000587101.1_5'UTR|IGFLR1_ENST00000588992.1_Intron|IGFLR1_ENST00000592889.1_Intron|IGFLR1_ENST00000246532.1_Splice_Site|IGFLR1_ENST00000592537.1_Splice_Site|IGFLR1_ENST00000344990.3_Intron AACTCATAGTCTAGCGGGAAA 0.662000 9 67 0 0 1 0 0 PCDHA3 0 broad.mit.edu 37 5 140182485 140182485 + Missense_Mutation SNP C C A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr5:140182485C>A ENST00000522353.2 + 1 1703 c.1703C>A c.(1702-1704)cCt>cAt p.P568H PCDHA3_ENST00000532566.2_Missense_Mutation_p.P568H|PCDHA2_ENST00000520672.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron NM_018906.2 NP_061729.1 NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGCTGATGCCTCGGGTGGGT 0.687000 21 153 1.37657e-19 1.51981e-19 1 1 0 RSF1 51773 broad.mit.edu 37 11 77412843 77412843 + Missense_Mutation SNP G G T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr11:77412843G>T ENST00000308488.6 - 6 1733 c.1431C>A c.(1429-1431)gaC>gaA p.D477E RSF1_ENST00000360355.2_Missense_Mutation_p.D446E|RSF1_ENST00000480887.1_Missense_Mutation_p.D225E Q96T23 RSF1_HUMAN remodeling and spacing factor 1 477 CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent RSF complex histone binding|protein binding|zinc ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152) Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31) TGATATTTCTGTCCTTAGAGG 0.398000 8 79 0.00307968 0.00314474 1 1 0 ATP2B4 493 broad.mit.edu 37 1 203693021 203693021 + Missense_Mutation SNP G G C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr1:203693021G>C ENST00000357681.5 + 19 4160 c.3037G>C c.(3037-3039)Gaa>Caa p.E1013Q ATP2B4_ENST00000341360.2_Missense_Mutation_p.E1013Q|ATP2B4_ENST00000367218.3_Missense_Mutation_p.E1013Q|ATP2B4_ENST00000391954.2_Intron|ATP2B4_ENST00000367219.3_Missense_Mutation_p.E1001Q NM_001684.4 NP_001675.3 P23634 AT2B4_HUMAN ATPase, Ca++ transporting, plasma membrane 4 1013 ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3) 56 all_cancers(21;0.071)|all_epithelial(62;0.228) BRCA - Breast invasive adenocarcinoma(75;0.109) TTTCATCGTGGAATTTGGGGG 0.532000 5 138 0 0 1 0 0 METTL25 84190 broad.mit.edu 37 12 82780731 82780731 + Missense_Mutation SNP C C G TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr12:82780731C>G ENST00000248306.3 + 2 478 c.409C>G c.(409-411)Caa>Gaa p.Q137E METTL25_ENST00000547357.1_3'UTR NM_032230.2 NP_115606.2 methyltransferase like 25 TCGAGGAAATCAAAACCAGAG 0.368000 4 78 0 0 1 0 0 MAN1B1 11253 broad.mit.edu 37 9 139995996 139995996 + Missense_Mutation SNP G G A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr9:139995996G>A ENST00000371589.4 + 8 1199 c.1126G>A c.(1126-1128)Gat>Aat p.D376N MAN1B1_ENST00000474902.1_Missense_Mutation_p.D79N NM_016219.4 NP_057303.2 Q9UKM7 MA1B1_HUMAN mannosidase, alpha, class 1B, member 1 376 oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2) 14 all_cancers(76;0.0926) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513) TCCTTACTCGGATGTGAACAT 0.547000 5 42 0 0 1 0 0 LEFTY2 7044 broad.mit.edu 37 1 226125369 226125369 + Silent SNP G G A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr1:226125369G>A ENST00000366820.5 - 4 1221 c.873C>T c.(871-873)taC>taT p.Y291Y LEFTY2_ENST00000420304.2_Silent_p.Y257Y NM_003240.3 NP_003231.2 O00292 LFTY2_HUMAN left-right determination factor 2 291 cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway extracellular space|platelet alpha granule lumen cytokine activity|growth factor activity|transforming growth factor beta receptor binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 16 Breast(184;0.197) CCACACACTCGTAAGCCAGGA 0.662000 3 40 0 0 1 0 0 OR4C16 219428 broad.mit.edu 37 11 55339928 55339928 + Missense_Mutation SNP G G C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr11:55339928G>C ENST00000314634.3 + 1 325 c.325G>C c.(325-327)Gag>Cag p.E109Q NM_001004701.2 NP_001004701.2 Q8NGL9 OR4CG_HUMAN olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene) 109 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 all_epithelial(135;0.0748) TGGCTGCCTGGAGATCTTCAT 0.483000 17 126 0 0 1 0 0 ALDH6A1 4329 broad.mit.edu 37 14 74534271 74534271 + Splice_Site SNP C C A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr14:74534271C>A ENST00000553458.1 - 8 952 c.852_splice c.e8-1 p.G285_splice ALDH6A1_ENST00000555126.1_Splice_Site_p.G2_splice|CCDC176_ENST00000553773.1_Intron|ALDH6A1_ENST00000350259.4_Splice_Site_p.G272_splice|AC005484.5_ENST00000492026.1_RNA NM_001278593.1|NM_005589.2 NP_001265522.1|NP_005580.1 Q02252 MMSA_HUMAN aldehyde dehydrogenase 6 family, member A1 285 mitochondrial matrix|nucleus fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3) 21 BRCA - Breast invasive adenocarcinoma(234;0.00354) NADH(DB00157) GTTCTTGGCTCCCTAAAAAAA 0.478000 4 31 2.56e-06 2.69637e-06 1 1 0 MEOX2 4223 broad.mit.edu 37 7 15725701 15725701 + Silent SNP G G A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr7:15725701G>A ENST00000262041.5 - 1 736 c.327C>T c.(325-327)tgC>tgT p.C109C NM_005924.4 NP_005915.2 P50222 MEOX2_HUMAN mesenchyme homeobox 2 109 blood circulation|multicellular organismal development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (126;0.0822) CGGGCTGGAGGCAGAGGCTGT 0.672000 3 16 0 0 1 0 0 AGA 175 broad.mit.edu 37 4 178360736 178360736 + Missense_Mutation SNP C C G TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr4:178360736C>G ENST00000264595.2 - 3 515 c.388G>C c.(388-390)Gag>Cag p.E130Q AGA_ENST00000506853.1_5'UTR NM_000027.3|NM_001171988.1 NP_000018.2|NP_001165459.1 P20933 ASPG_HUMAN aspartylglucosaminidase 130 asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2) 16 all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245) all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163) ATACCTGACTCTCCTACTAAA 0.343000 14 70 0 0 1 0 0 MDN1 23195 broad.mit.edu 37 6 90371187 90371187 + Silent SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr6:90371187C>T ENST00000369393.3 - 88 14791 c.14676G>A c.(14674-14676)aaG>aaA p.K4892K MDN1_ENST00000428876.1_Silent_p.K4892K Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 4892 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) CACCACCATTCTTGTCTTCAC 0.458000 7 101 0 0 1 0 0 REV1 51455 broad.mit.edu 37 2 100022444 100022444 + Missense_Mutation SNP C C G TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr2:100022444C>G ENST00000258428.3 - 17 2967 c.2739G>C c.(2737-2739)tgG>tgC p.W913C REV1_ENST00000465835.1_5'UTR|REV1_ENST00000393445.3_Missense_Mutation_p.W912C NM_001037872.1|NM_016316.2 NP_001032961.1|NP_057400.1 Q9UBZ9 REV1_HUMAN REV1, polymerase (DNA directed) 913 DNA replication|error-prone translesion synthesis|response to UV nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GTAGACCATTCCATTTCCCTG 0.443000 Direct reversal of damage 3 47 0 0 1 0 0 DCHS1 8642 broad.mit.edu 37 11 6655238 6655238 + Missense_Mutation SNP G G C rs146086570 byFrequency TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr11:6655238G>C ENST00000299441.3 - 4 2411 c.2000C>G c.(1999-2001)tCc>tGc p.S667C RP11-732A19.6_ENST00000526633.1_RNA NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 667 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATATACCATGGACTTGAGGCC 0.552000 9 60 0 0 1 0 0 FGFR4 2264 broad.mit.edu 37 5 176519359 176519359 + Silent SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr5:176519359C>T ENST00000292408.4 + 7 1010 c.765C>T c.(763-765)ctC>ctT p.L255L FGFR4_ENST00000292410.3_Silent_p.L255L|FGFR4_ENST00000393637.1_Silent_p.L255L|FGFR4_ENST00000393648.2_Silent_p.L255L|FGFR4_ENST00000502906.1_Silent_p.L255L NM_002011.3|NM_213647.1 NP_002002.3|NP_998812.1 P22455 FGFR4_HUMAN fibroblast growth factor receptor 4 255 Ig-like C2-type 3. insulin receptor signaling pathway|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 34 all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Palifermin(DB00039) AGGCCGGGCTCCCGGCCAACA 0.667000 TSP Lung(9;0.080) 7 24 0 0 1 0 0 ZNF493 284443 broad.mit.edu 37 19 21588648 21588648 + Silent SNP C C G TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr19:21588648C>G ENST00000392288.2 + 3 352 c.243C>G c.(241-243)gtC>gtG p.V81V CTD-2561J22.3_ENST00000600810.1_Silent_p.V62V|ZNF493_ENST00000596302.1_Silent_p.V82V|ZNF493_ENST00000594390.1_Silent_p.V81V|ZNF493_ENST00000355504.4_Intron|ZNF493_ENST00000339914.6_Silent_p.V82V NM_001076678.2 NP_001070146.1 Q6ZR52 ZN493_HUMAN zinc finger protein 493 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 GTACGGTAGTCAAACCCCCAG 0.408000 4 52 0 0 1 0 0 TRO 7216 broad.mit.edu 37 X 54955689 54955689 + Silent SNP A A G TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chrX:54955689A>G ENST00000173898.7 + 12 2644 c.2532A>G c.(2530-2532)ggA>ggG p.G844G TRO_ENST00000319167.8_Intron|TRO_ENST00000375041.2_Silent_p.G447G|TRO_ENST00000399736.1_Intron|TRO_ENST00000420798.2_Silent_p.G375G|TRO_ENST00000375022.4_Intron NM_001039705.1 NP_001034794.1 Q12816 TROP_HUMAN trophinin 844 62 X 10 AA approximate tandem repeats. embryo implantation|homophilic cell adhesion integral to plasma membrane breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1) 37 TCAGTGGTGGAGCCAGCTCTG 0.557000 4 52 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7571654 7571654 + Silent SNP A A T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr6:7571654A>T ENST00000379802.3 + 14 2081 c.1740A>T c.(1738-1740)atA>atT p.I580I DSP_ENST00000418664.2_Silent_p.I580I NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 580 Globular 1.|Interacts with plakophilin 1 and junction plakoglobin. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) TGAAGACGATAGCCGACCTTG 0.443000 27 261 0 0 1 0 0 NFE2L2 4780 broad.mit.edu 37 2 178095740 178095740 + Missense_Mutation SNP G G A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr2:178095740G>A ENST00000397062.3 - 5 2145 c.1591C>T c.(1591-1593)Cat>Tat p.H531Y NFE2L2_ENST00000464747.1_Missense_Mutation_p.H515Y|NFE2L2_ENST00000446151.2_Missense_Mutation_p.H508Y|NFE2L2_ENST00000397063.4_Missense_Mutation_p.H515Y NM_006164.4 NP_006155.2 Q16236 NF2L2_HUMAN nuclear factor, erythroid 2-like 2 531 Leucine-zipper. transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 158 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) TCTTTCAAATGATCTAAATCT 0.343000 Mis """NSCLC, HNSCC""" HNSCC(56;0.16) 9 60 0 0 1 0 0 PLD3 0 broad.mit.edu 37 19 40882619 40882619 + Missense_Mutation SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr19:40882619C>T ENST00000409587.1 + 11 1520 c.1123C>T c.(1123-1125)Cgg>Tgg p.R375W PLD3_ENST00000356508.5_Missense_Mutation_p.R375W|PLD3_ENST00000409419.1_Missense_Mutation_p.R375W|PLD3_ENST00000409735.4_Missense_Mutation_p.R375W|PLD3_ENST00000409281.1_Missense_Mutation_p.R375W Q8IV08 PLD3_HUMAN phospholipase D family, member 3 375 lipid catabolic process endoplasmic reticulum membrane|integral to membrane NAPE-specific phospholipase D activity|phospholipase D activity|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 20 Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248) GCCATCCATGCGGGCCTTCCT 0.647000 15 73 0 0 1 0 0 ZNF296 162979 broad.mit.edu 37 19 45575710 45575710 + Missense_Mutation SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr19:45575710C>T ENST00000303809.2 - 3 791 c.577G>A c.(577-579)Gag>Aag p.E193K NM_145288.1 NP_660331.1 Q8WUU4 ZN296_HUMAN zinc finger protein 296 193 regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|lung(3)|prostate(1)|urinary_tract(2) 7 AGCGGGGCCTCCGGGGCCTCT 0.682000 4 71 0 0 1 0 0 POLR2J3 548644 broad.mit.edu 37 7 102212948 102212948 + Missense_Mutation SNP G G C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr7:102212948G>C ENST00000511313.1 - 1 82 c.21C>G c.(19-21)ttC>ttG p.F7L RP11-514P8.7_ENST00000514917.2_Intron|POLR2J3_ENST00000504157.1_5'UTR|POLR2J3_ENST00000513438.1_Missense_Mutation_p.F7L Q9GZM3 RPB1B_HUMAN polymerase (RNA) II (DNA directed) polypeptide J3 7 nucleus DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity AGAACGACTCGAAGGCTGGAG 0.667000 8 233 0 0 1 0 0 MED13L 23389 broad.mit.edu 37 12 116413008 116413008 + Missense_Mutation SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr12:116413008C>T ENST00000281928.3 - 25 5905 c.5699G>A c.(5698-5700)cGa>cAa p.R1900Q NM_015335.4 NP_056150.1 Q71F56 MD13L_HUMAN mediator complex subunit 13-like 1900 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 85 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) ACGCCCAAGTCGCCCGATTAC 0.438000 5 78 0 0 1 0 0 HIVEP3 59269 broad.mit.edu 37 1 42049679 42049679 + Missense_Mutation SNP C C G TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr1:42049679C>G ENST00000372584.1 - 3 1804 c.790G>C c.(790-792)Gag>Cag p.E264Q HIVEP3_ENST00000247584.5_Missense_Mutation_p.E264Q|HIVEP3_ENST00000429157.2_Missense_Mutation_p.E264Q|HIVEP3_ENST00000372583.1_Missense_Mutation_p.E264Q NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 264 Acidic 1.|No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity). positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) CGCTCCATCTCCAGCCCATGT 0.572000 9 76 0 0 1 0 0 MIR485 0 broad.mit.edu 37 14 101521799 101521799 + RNA SNP G G C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr14:101521799G>C ENST00000385292.2 + 0 62 NR_030160.1 TCATCAAAGCGAGTCATACAC 0.537000 3 44 0 0 1 0 0 OR10X1 128367 broad.mit.edu 37 1 158549080 158549080 + Missense_Mutation SNP A A G TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr1:158549080A>G ENST00000368150.1 - 1 609 c.610T>C c.(610-612)Tct>Cct p.S204P NM_001004477.1 NP_001004477.1 Q8NGY0 O10X1_HUMAN olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene) 204 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1) 37 all_hematologic(112;0.0378) TCTATACAAGACAGCCTAATA 0.433000 5 70 0 0 1 0 0 SEMA6A 57556 broad.mit.edu 37 5 115782673 115782673 + Missense_Mutation SNP G G A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr5:115782673G>A ENST00000343348.6 - 19 3516 c.2729C>T c.(2728-2730)tCt>tTt p.S910F SEMA6A_ENST00000282394.6_Missense_Mutation_p.S387F|SEMA6A_ENST00000510263.1_Missense_Mutation_p.S910F|SEMA6A_ENST00000257414.8_Missense_Mutation_p.S927F|SEMA6A_ENST00000503865.1_Missense_Mutation_p.S289F|SEMA6A_ENST00000513137.1_Missense_Mutation_p.S337F NM_020796.3 NP_065847.1 Q9H2E6 SEM6A_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A 910 apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis axon|integral to membrane|plasma membrane receptor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203) OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151) CCCGTAGGAAGAGGAGTGGTG 0.587000 8 77 0 0 1 0 0 DPP10 57628 broad.mit.edu 37 2 116548751 116548751 + Missense_Mutation SNP C C G TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr2:116548751C>G ENST00000410059.1 + 18 2106 c.1626C>G c.(1624-1626)gaC>gaG p.D542E DPP10_ENST00000310323.8_Missense_Mutation_p.D535E|DPP10_ENST00000393147.2_Missense_Mutation_p.D546E|DPP10_ENST00000409163.1_Missense_Mutation_p.D492E NM_001178037.1|NM_020868.3 NP_001171508.1|NP_065919.2 Q8N608 DPP10_HUMAN dipeptidyl-peptidase 10 (non-functional) 542 proteolysis integral to membrane|membrane fraction serine-type peptidase activity breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1) 101 ATATTGACGACTATGGTAAAA 0.323000 4 30 0 0 1 0 0 YOD1 55432 broad.mit.edu 37 1 207222908 207222908 + Silent SNP G G A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr1:207222908G>A ENST00000367084.1 - 4 576 c.372C>T c.(370-372)gtC>gtT p.V124V YOD1_ENST00000315927.4_Silent_p.V168V|PFKFB2_ENST00000411990.2_5'UTR|YOD1_ENST00000391927.1_Silent_p.V124V NM_001276320.1 NP_001263249.1 Q5VVQ6 OTU1_HUMAN YOD1 deubiquitinase 168 UBX-like. cellular amino acid metabolic process|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination intracellular protein binding|ubiquitin-specific protease activity|zinc ion binding cervix(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(3) 11 Prostate(682;0.19) CTCCTTCGACGACATAGTACA 0.488000 20 26 0 0 1 0 0 IFI44 10561 broad.mit.edu 37 1 79116090 79116090 + Missense_Mutation SNP G G C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr1:79116090G>C ENST00000370747.4 + 2 295 c.210G>C c.(208-210)caG>caC p.Q70H IFI44_ENST00000495254.1_Intron|IFI44_ENST00000545124.1_Intron NM_006417.4 NP_006408.3 Q8TCB0 IFI44_HUMAN interferon-induced protein 44 70 response to virus cytoplasm central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 21 AGAGTTACCAGGAAGGAAAGT 0.368000 11 102 0 0 1 0 0 COG4 25839 broad.mit.edu 37 16 70548413 70548413 + Splice_Site SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr16:70548413C>T ENST00000323786.5 - 4 391 c.e4-1 COG4_ENST00000564653.1_Splice_Site|COG4_ENST00000393612.4_Splice_Site NM_001195139.1|NM_015386.2 NP_001182068.1|NP_056201.2 Q9H9E3 COG4_HUMAN component of oligomeric golgi complex 4 Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|Golgi transport complex protein binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2) 33 Ovarian(137;0.0694) AGAGGCGGTTCTGCAAAAAGA 0.433000 6 19 0 0 1 0 0 PI4KA 5297 broad.mit.edu 37 22 21081548 21081548 + Silent SNP G G A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr22:21081548G>A ENST00000255882.6 - 41 4997 c.4911C>T c.(4909-4911)taC>taT p.Y1637Y PI4KA_ENST00000572273.1_Silent_p.Y1579Y|PI4KA_ENST00000414196.3_Silent_p.Y389Y NM_058004.3 NP_477352.3 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase, catalytic, alpha 1579 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 79 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) CTTTCACCCCGTACTGCGCCG 0.657000 15 43 0 0 1 0 0 ASAP1 50807 broad.mit.edu 37 8 131172206 131172206 + Missense_Mutation SNP G G C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr8:131172206G>C ENST00000357668.1 - 11 941 c.914C>G c.(913-915)tCt>tGt p.S305C ASAP1_ENST00000518721.1_Missense_Mutation_p.S305C Q9ULH1 ASAP1_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 305 cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction cytoplasm|membrane ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 68 CCGGCTCTGAGAATCCTAGGA 0.443000 9 63 0 0 1 0 0 SERPINB7 8710 broad.mit.edu 37 18 61468144 61468144 + Silent SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr18:61468144C>T ENST00000398019.2 + 7 967 c.642C>T c.(640-642)ttC>ttT p.F214F SERPINB7_ENST00000546027.1_Silent_p.F214F|SERPINB7_ENST00000540675.1_Silent_p.F197F|SERPINB7_ENST00000336429.2_Silent_p.F214F NM_003784.3 NP_003775.1 O75635 SPB7_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 7 214 regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3) 27 Esophageal squamous(42;0.129) AACGGAAGTTCAATTTGTCTG 0.408000 10 73 0 0 1 0 0 HVCN1 84329 broad.mit.edu 37 12 111099146 111099146 + Missense_Mutation SNP C C G TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr12:111099146C>G ENST00000356742.5 - 3 882 c.129G>C c.(127-129)aaG>aaC p.K43N HVCN1_ENST00000439744.2_Missense_Mutation_p.K23N|HVCN1_ENST00000548312.1_Missense_Mutation_p.K43N|HVCN1_ENST00000242607.8_Missense_Mutation_p.K43N Q96D96 HVCN1_HUMAN hydrogen voltage-gated channel 1 43 response to pH|response to zinc ion integral to membrane voltage-gated proton channel activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 19 tctccCATTTCTTGTAGTTGA 0.597000 7 65 0 0 1 0 0 NEFH 4744 broad.mit.edu 37 22 29886561 29886561 + Missense_Mutation SNP G G T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr22:29886561G>T ENST00000310624.6 + 4 2965 c.2932G>T c.(2932-2934)Gat>Tat p.D978Y NM_021076.3 NP_066554.2 P12036 NFH_HUMAN neurofilament, heavy polypeptide 984 Tail. cell death|nervous system development neurofilament cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3) 30 AGCCAAGGAAGATGACAAGAC 0.512000 6 77 0.00116845 0.00120444 1 1 0 CNPY4 245812 broad.mit.edu 37 7 99722164 99722164 + Missense_Mutation SNP G G C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr7:99722164G>C ENST00000262932.3 + 5 625 c.493G>C c.(493-495)Gac>Cac p.D165H CNPY4_ENST00000480692.1_3'UTR|RP11-506M12.1_ENST00000494221.1_RNA NM_152755.1 NP_689968.1 Q8N129 CNPY4_HUMAN canopy FGF signaling regulator 4 165 Glu-rich. extracellular region breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 7 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GGAGTTTGAAGACATTGTGGG 0.512000 12 79 0 0 1 0 0 UNC119 9094 broad.mit.edu 37 17 26874818 26874818 + Missense_Mutation SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr17:26874818C>T ENST00000484980.1 - 3 3363 c.202G>A c.(202-204)Gag>Aag p.E68K UNC119_ENST00000335765.4_Missense_Mutation_p.E163K|UNC119_ENST00000470125.1_Missense_Mutation_p.E68K|UNC119_ENST00000301032.4_Missense_Mutation_p.E163K Q13432 U119A_HUMAN unc-119 homolog (C. elegans) 163 phototransduction|synaptic transmission|visual perception cytosol|soluble fraction breast(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1) 7 Lung NSC(42;0.00431) TAGTGCCTCTCGATCATGCGG 0.517000 OREG0024277 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 119 0 0 1 0 0 LHX9 56956 broad.mit.edu 37 1 197890533 197890533 + Missense_Mutation SNP C C G TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr1:197890533C>G ENST00000367390.3 + 4 477 c.450C>G c.(448-450)ttC>ttG p.F150L LHX9_ENST00000561173.1_Missense_Mutation_p.F165L|LHX9_ENST00000367387.4_Missense_Mutation_p.F159L|LHX9_ENST00000367391.1_Missense_Mutation_p.F150L|LHX9_ENST00000337020.2_Missense_Mutation_p.F159L NM_001014434.1 NP_001014434.1 Q9NQ69 LHX9_HUMAN LIM homeobox 9 159 LIM zinc-binding 2. motor axon guidance|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1) 35 TGAGCTGCTTCACCTGCTCCA 0.597000 4 94 0 0 1 0 0 ZMAT5 55954 broad.mit.edu 37 22 30134374 30134374 + Missense_Mutation SNP G G C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr22:30134374G>C ENST00000397781.3 - 6 578 c.328C>G c.(328-330)Ctg>Gtg p.L110V ZMAT5_ENST00000344318.3_Missense_Mutation_p.L110V NM_019103.2 NP_061976.1 Q9UDW3 ZMAT5_HUMAN zinc finger, matrin-type 5 110 mRNA processing cytoplasm|U12-type spliceosomal complex nucleic acid binding|zinc ion binding large_intestine(1)|lung(1)|ovary(1) 3 OV - Ovarian serous cystadenocarcinoma(5;0.000597)|all cancers(5;0.0534)|Epithelial(10;0.0574) CAGTCCTCCAGATGGCCCTCG 0.642000 4 49 0 0 1 0 0 GOLGB1 2804 broad.mit.edu 37 3 121414560 121414560 + Missense_Mutation SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr3:121414560C>T ENST00000393667.3 - 13 4920 c.4810G>A c.(4810-4812)Gca>Aca p.A1604T GOLGB1_ENST00000340645.5_Missense_Mutation_p.A1599T NM_001256486.1 NP_001243415.1 Q14789 GOGB1_HUMAN golgin B1 1599 Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) GTACTTTCTGCAATCTTAGAA 0.378000 18 57 0 0 1 0 0 APC2 10297 broad.mit.edu 37 19 1460850 1460850 + Silent SNP C C G TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr19:1460850C>G ENST00000535453.1 + 11 3228 c.1515C>G c.(1513-1515)ctC>ctG p.L505L APC2_ENST00000238483.4_Silent_p.L231L|APC2_ENST00000233607.2_Silent_p.L505L|CTB-25B13.12_ENST00000588225.1_RNA O95996 APC2_HUMAN adenomatosis polyposis coli 2 505 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm beta-catenin binding|microtubule binding breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2) 18 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GTGAGGAGCTCCACCAGGTAC 0.697000 8 38 0 0 1 0 0 CCT3 7203 broad.mit.edu 37 1 156281931 156281931 + Missense_Mutation SNP G G C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr1:156281931G>C ENST00000295688.3 - 11 1336 c.1056C>G c.(1054-1056)atC>atG p.I352M CCT3_ENST00000368259.2_Missense_Mutation_p.I314M|CCT3_ENST00000368261.3_Missense_Mutation_p.I307M|CCT3_ENST00000472765.2_Missense_Mutation_p.I307M NM_005998.4 NP_005989.3 P49368 TCPG_HUMAN chaperonin containing TCP1, subunit 3 (gamma) 352 'de novo' posttranslational protein folding cytoskeleton|cytosol|plasma membrane ATP binding|unfolded protein binding endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 22 Hepatocellular(266;0.158) CAATTTTCTTGATTTCCAACA 0.517000 6 65 0 0 1 0 0 OTOF 9381 broad.mit.edu 37 2 26725246 26725246 + Missense_Mutation SNP C C T rs111033535 TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr2:26725246C>T ENST00000272371.2 - 7 758 c.632G>A c.(631-633)cGg>cAg p.R211Q OTOF_ENST00000403946.3_Missense_Mutation_p.R211Q NM_194248.2 NP_919224.1 Q9HC10 OTOF_HUMAN otoferlin 211 cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ATCTCCTAGCCGAATGGCCAG 0.557000 4 21 0 0 1 0 0 FRMPD4 9758 broad.mit.edu 37 X 12735697 12735697 + Missense_Mutation SNP G G A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chrX:12735697G>A ENST00000380682.1 + 16 3258 c.2752G>A c.(2752-2754)Gag>Aag p.E918K NM_014728.3 NP_055543.2 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 918 positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3) 22 TGAAATGACTGAGAGTTCTGA 0.493000 24 199 0 0 1 0 0 OR6C6 283365 broad.mit.edu 37 12 55688184 55688184 + Nonsense_Mutation SNP G G T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr12:55688184G>T ENST00000358433.2 - 1 832 c.833C>A c.(832-834)tCa>tAa p.S278* NM_001005493.1 NP_001005493.1 A6NF89 OR6C6_HUMAN olfactory receptor, family 6, subfamily C, member 6 278 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 AGGGGCAATTGAGGTATAGAG 0.363000 11 63 0.000978159 0.00101069 1 1 0 PRKCE 5581 broad.mit.edu 37 2 46203651 46203651 + Missense_Mutation SNP C C G TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr2:46203651C>G ENST00000306156.3 + 3 823 c.496C>G c.(496-498)Cag>Gag p.Q166E NM_005400.2 NP_005391.1 Q02156 KPCE_HUMAN protein kinase C, epsilon 166 activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation cytosol|endoplasmic reticulum|plasma membrane ATP binding|enzyme activator activity|metal ion binding|signal transducer activity MBOAT2/PRKCE(2) breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2) 34 all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209) LUSC - Lung squamous cell carcinoma(58;0.171) CAGGGTCCATCAGGTCAACGG 0.587000 29 90 0 0 1 0 0 KDM5C 8242 broad.mit.edu 37 X 53222263 53222263 + Missense_Mutation SNP C C G TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chrX:53222263C>G ENST00000375401.3 - 26 5101 c.4569G>C c.(4567-4569)caG>caC p.Q1523H KDM5C_ENST00000404049.3_Missense_Mutation_p.Q1522H|KDM5C_ENST00000375383.3_Missense_Mutation_p.Q1479H|KDM5C_ENST00000452825.3_Intron|KDM5C_ENST00000375379.3_Missense_Mutation_p.Q1520H NM_004187.3 NP_004178.2 P41229 KDM5C_HUMAN lysine (K)-specific demethylase 5C 1523 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2) 82 CCAAGCCATTCTGGTTCTCCT 0.677000 """N, F, S""" clear cell renal carcinoma 3 36 0 0 1 0 0 TICRR 90381 broad.mit.edu 37 15 90167617 90167617 + Nonsense_Mutation SNP C C G TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr15:90167617C>G ENST00000268138.7 + 20 4181 c.4076C>G c.(4075-4077)tCa>tGa p.S1359* TICRR_ENST00000560985.1_Nonsense_Mutation_p.S1358*|KIF7_ENST00000558928.1_Intron TOPBP1-interacting checkpoint and replication regulator CCTGTTCCCTCAACTCCCCCT 0.527000 16 110 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228855726 228855726 + Missense_Mutation SNP C C G TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr2:228855726C>G ENST00000392056.3 - 11 4995 c.4949G>C c.(4948-4950)aGa>aCa p.R1650T SPHKAP_ENST00000344657.5_Missense_Mutation_p.R1621T NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 1650 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) CTTTTCAATTCTGTTTTCCTG 0.453000 7 76 0 0 1 0 0 ZNF649 65251 broad.mit.edu 37 19 52394225 52394225 + Silent SNP T T C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr19:52394225T>C ENST00000354957.3 - 5 1448 c.1164A>G c.(1162-1164)ggA>ggG p.G388G ZNF649_ENST00000600738.1_Silent_p.G360G|CTC-429C10.2_ENST00000600329.1_RNA NM_023074.3 NP_075562.2 Q9BS31 ZN649_HUMAN zinc finger protein 649 388 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 29 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185) GTCTAATGAGTCCTGACTTCT 0.433000 14 85 0 0 1 0 0 EIF3B 8662 broad.mit.edu 37 7 2395011 2395011 + Missense_Mutation SNP C C G TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr7:2395011C>G ENST00000360876.4 + 1 511 c.455C>G c.(454-456)tCc>tGc p.S152C EIF3B_ENST00000397011.2_Missense_Mutation_p.S152C NM_001037283.1 NP_001032360.1 P55884 EIF3B_HUMAN eukaryotic translation initiation factor 3, subunit B 152 Sufficient for interaction with EIF3E. regulation of translational initiation cytosol|eukaryotic translation initiation factor 3 complex nucleotide binding|protein complex scaffold|translation initiation factor activity breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1) 24 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14) GACGAGCCCTCCTTCAGCGAC 0.756000 3 15 0 0 1 0 0 SLC6A12 6539 broad.mit.edu 37 12 307135 307135 + Missense_Mutation SNP G G T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr12:307135G>T ENST00000428720.1 - 9 1624 c.881C>A c.(880-882)tCc>tAc p.S294Y SLC6A12_ENST00000397296.2_Missense_Mutation_p.S294Y|SLC6A12_ENST00000536824.1_Missense_Mutation_p.S294Y|SLC6A12_ENST00000359674.4_Missense_Mutation_p.S294Y|SLC6A12_ENST00000538272.1_5'UTR|SLC6A12_ENST00000424061.2_Missense_Mutation_p.S294Y NM_001122848.2 NP_001116320.1 P48065 S6A12_HUMAN solute carrier family 6 (neurotransmitter transporter), member 12 294 cellular nitrogen compound metabolic process|neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00227) GATGGCAAAGGAGAAGAAGAT 0.587000 5 116 1.024e-07 1.09445e-07 1 1 0 TECPR2 9895 broad.mit.edu 37 14 102906847 102906847 + Missense_Mutation SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr14:102906847C>T ENST00000359520.7 + 11 2879 c.2653C>T c.(2653-2655)Cgg>Tgg p.R885W TECPR2_ENST00000558678.1_Missense_Mutation_p.R885W NM_014844.3 NP_055659.2 O15040 TCPR2_HUMAN tectonin beta-propeller repeat containing 2 885 protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 50 CAAGGGGAAGCGGCACTGGTA 0.517000 11 80 0 0 1 0 0 CATSPER2P1 0 broad.mit.edu 37 15 44036385 44036385 + RNA SNP T T C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr15:44036385T>C ENST00000381680.2 - 0 578 NR_002318.2 TTCAAAAAGATCAGGAAGATG 0.423000 10 40 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176525515 176525515 + Silent SNP C C G TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr1:176525515C>G ENST00000367662.3 + 2 1221 c.57C>G c.(55-57)ctC>ctG p.L19L PAPPA2_ENST00000367661.3_Silent_p.L19L NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 19 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 GGTGGGCACTCTGTTCTGCCA 0.507000 8 161 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179411742 179411742 + Missense_Mutation SNP G G C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr2:179411742G>C ENST00000589042.1 - 340 94734 c.94510C>G c.(94510-94512)Caa>Gaa p.Q31504E TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Q22631E|TTN_ENST00000342992.6_Missense_Mutation_p.Q28936E|TTN_ENST00000591111.1_Missense_Mutation_p.Q29863E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Q22564E|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Q22439E|TTN-AS1_ENST00000590932.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 29863 Ig-like 140. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACTGGATTTTGAGCCATTATA 0.363000 19 113 0 0 1 0 0 PJA2 9867 broad.mit.edu 37 5 108704338 108704338 + Missense_Mutation SNP C C A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr5:108704338C>A ENST00000361189.2 - 5 1632 c.1393G>T c.(1393-1395)Gat>Tat p.D465Y PJA2_ENST00000361557.3_Missense_Mutation_p.D465Y NM_014819.4 NP_055634.3 O43164 PJA2_HUMAN praja ring finger 2, E3 ubiquitin protein ligase 465 long-term memory|regulation of protein kinase A signaling cascade cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 21 all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151) OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224) TCATTCTCATCTTTTCCTGGC 0.423000 15 53 7.93312e-07 8.41685e-07 1 1 0 ALG9 79796 broad.mit.edu 37 11 111747359 111747359 + Missense_Mutation SNP G G C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr11:111747359G>C ENST00000524880.1 - 4 830 c.538C>G c.(538-540)Caa>Gaa p.Q180E FDXACB1_ENST00000542429.1_Missense_Mutation_p.Q31E|FDXACB1_ENST00000260257.4_Missense_Mutation_p.Q180E|ALG9_ENST00000527377.1_5'UTR Q9H6U8 ALG9_HUMAN ALG9, alpha-1,2-mannosyltransferase 0 dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|intrinsic to endoplasmic reticulum membrane alpha-1,2-mannosyltransferase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587) GACTTATCTTGACTCCTGGCA 0.388000 5 47 0 0 1 0 0 PPP2R1A 5518 broad.mit.edu 37 19 52714679 52714679 + Missense_Mutation SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr19:52714679C>T ENST00000322088.6 + 4 495 c.437C>T c.(436-438)tCg>tTg p.S146L PPP2R1A_ENST00000462990.1_5'UTR|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.S91L|PPP2R1A_ENST00000473455.2_3'UTR NM_014225.5 NP_055040.2 P30153 2AAA_HUMAN protein phosphatase 2, regulatory subunit A, alpha 146 PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding. ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 135 GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015) TCCCGCACCTCGGCCTGCGGC 0.652000 Mis clear cell ovarian carcinoma 11 90 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577121 7577121 + Missense_Mutation SNP G G A rs121913343 TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr17:7577121G>A ENST00000420246.2 - 8 949 c.817C>T c.(817-819)Cgt>Tgt p.R273C TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 273 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GCACAAACACGCACCTCAAAG 0.542000 R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID) 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 5 22 0 0 1 0 0 CBLB 868 broad.mit.edu 37 3 105438994 105438994 + Missense_Mutation SNP C C G rs116474782 by1000genomes TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr3:105438994C>G ENST00000264122.4 - 10 1625 c.1304G>C c.(1303-1305)tGt>tCt p.C435S CBLB_ENST00000394027.3_Missense_Mutation_p.C457S|CBLB_ENST00000403724.1_Missense_Mutation_p.C435S|CBLB_ENST00000405772.1_Missense_Mutation_p.C435S|CBLB_ENST00000545639.1_3'UTR NM_170662.3 NP_733762.2 Q13191 CBLB_HUMAN Cbl proto-oncogene B, E3 ubiquitin protein ligase 435 cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus cytoplasm|nucleus calcium ion binding|ligase activity|signal transducer activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2) 49 GATGCTGCAACACCTGGAGCC 0.512000 Mis S AML 5 30 0 0 1 0 0 MBD5 0 broad.mit.edu 37 2 149241016 149241016 + Missense_Mutation SNP G G C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr2:149241016G>C ENST00000404807.1 + 5 2985 c.2856G>C c.(2854-2856)gaG>gaC p.E952D MBD5_ENST00000407073.1_Intron Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 957 chromosome|nucleus chromatin binding|DNA binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 62 BRCA - Breast invasive adenocarcinoma(221;0.0569) GCAAGTCTGAGATCAACCTCC 0.453000 10 71 0 0 1 0 0 PGBD5 79605 broad.mit.edu 37 1 230459297 230459297 + Missense_Mutation SNP G G C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr1:230459297G>C ENST00000321327.2 - 9 1538 c.1539C>G c.(1537-1539)atC>atG p.I513M PGBD5_ENST00000530424.1_5'UTR|PGBD5_ENST00000525115.1_Missense_Mutation_p.I414M|PGBD5_ENST00000391860.1_Missense_Mutation_p.I368M Q8N414 PGBD5_HUMAN piggyBac transposable element derived 5 414 integral to membrane biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1) 33 Breast(184;0.0397) Prostate(94;0.167) GBM - Glioblastoma multiforme(131;0.201) AGGCATTGTTGATGGCGATGC 0.517000 15 111 0 0 1 0 0 ZNF821 55565 broad.mit.edu 37 16 71898077 71898077 + Silent SNP G G A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr16:71898077G>A ENST00000425432.1 - 6 760 c.381C>T c.(379-381)tgC>tgT p.C127C RP11-498D10.4_ENST00000569119.1_Intron|ZNF821_ENST00000564943.1_5'UTR|ZNF821_ENST00000313565.6_Silent_p.C85C|ZNF821_ENST00000446827.2_Silent_p.C85C|ZNF821_ENST00000565601.1_Silent_p.C127C|ZNF821_ENST00000564134.1_Silent_p.C126C|RP11-498D10.4_ENST00000568581.1_Intron NM_001201552.1 NP_001188481.1 O75541 ZN821_HUMAN zinc finger protein 821 127 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(2) 13 CCCGGCTCCCGCAGTCTAGCT 0.532000 13 71 0 0 1 0 0 IPO13 9670 broad.mit.edu 37 1 44426880 44426880 + Missense_Mutation SNP A A G rs117692141 TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr1:44426880A>G ENST00000372343.3 + 14 2952 c.2290A>G c.(2290-2292)Att>Gtt p.I764V NM_014652.3 NP_055467.3 O94829 IPO13_HUMAN importin 13 764 protein import into nucleus cytoplasm|nucleus protein binding|protein transporter activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0821) CTTTCCCCCAATTGAGGCCCT 0.587000 37 358 0 0 1 0 0 HPS6 79803 broad.mit.edu 37 10 103825882 103825882 + Silent SNP C C G TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr10:103825882C>G ENST00000299238.5 + 1 736 c.651C>G c.(649-651)ctC>ctG p.L217L NM_024747.5 NP_079023.2 Q86YV9 HPS6_HUMAN Hermansky-Pudlak syndrome 6 217 cytosol|early endosome membrane|endoplasmic reticulum|microsome endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1) 11 Colorectal(252;0.122) Epithelial(162;5.93e-08)|all cancers(201;1.03e-06) ACGTTCTACTCATCTGGAGCC 0.622000 Hermansky-Pudlak syndrome 23 58 0 0 1 0 0 C1QTNF9 338872 broad.mit.edu 37 13 24895247 24895247 + Nonsense_Mutation SNP C C T rs140002881 TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr13:24895247C>T ENST00000382071.2 + 4 428 c.343C>T c.(343-345)Cga>Tga p.R115* C1QTNF9_ENST00000332018.4_Nonsense_Mutation_p.R115*|C1QTNF9-AS1_ENST00000449656.1_RNA P0C862 C1T9A_HUMAN C1q and tumor necrosis factor related protein 9 115 Collagen-like 2. collagen hormone activity endometrium(1)|kidney(2)|lung(6) 9 all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159) GAAGGGCCTCCGAGGAGAGAC 0.602000 17 50 0 0 1 0 0 SPON2 10417 broad.mit.edu 37 4 1165191 1165191 + Missense_Mutation SNP C C G TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr4:1165191C>G ENST00000290902.5 - 3 636 c.304G>C c.(304-306)Gag>Cag p.E102Q SPON2_ENST00000431380.1_Missense_Mutation_p.E102Q NM_012445.3 NP_036577.1 Q9BUD6 SPON2_HUMAN spondin 2, extracellular matrix protein 102 Spondin. axon guidance|cell adhesion|innate immune response proteinaceous extracellular matrix metal ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1) 9 OV - Ovarian serous cystadenocarcinoma(23;0.00805) UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19) GCCCAGGCCTCGCCGCGCTCC 0.701000 7 38 0 0 1 0 0 ZDBF2 57683 broad.mit.edu 37 2 207173234 207173234 + Missense_Mutation SNP G G C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr2:207173234G>C ENST00000374423.3 + 5 4368 c.3982G>C c.(3982-3984)Gaa>Caa p.E1328Q NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 1328 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 CAGTGATTCTGAAATAATTTA 0.383000 5 42 0 0 1 0 0 MYO5C 55930 broad.mit.edu 37 15 52511996 52511996 + Missense_Mutation SNP G G C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr15:52511996G>C ENST00000261839.7 - 31 3906 c.3745C>G c.(3745-3747)Cag>Gag p.Q1249E NM_018728.3 NP_061198.2 Q9NQX4 MYO5C_HUMAN myosin VC 1249 myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 all cancers(107;0.0137) CGATGTAACTGATTAGACAAT 0.378000 9 19 0 0 1 0 0 CLCN1 1180 broad.mit.edu 37 7 143028681 143028681 + Missense_Mutation SNP C C G TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr7:143028681C>G ENST00000343257.2 + 10 1189 c.1102C>G c.(1102-1104)Ctg>Gtg p.L368V NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 368 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity p.L368V(1) breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) ATTTGTGTATCTGCATCGCCA 0.473000 7 62 0 0 1 0 0 SDE2 163859 broad.mit.edu 37 1 226173095 226173095 + Missense_Mutation SNP G G A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr1:226173095G>A ENST00000272091.7 - 7 1282 c.1264C>T c.(1264-1266)Cgg>Tgg p.R422W SDE2_ENST00000366817.1_Missense_Mutation_p.R327W NM_152608.3 NP_689821.3 SDE2 telomere maintenance homolog (S. pombe) p.R422W(1)|p.R410W(1) CTTGCTGCCCGCTCCTGCAGA 0.502000 7 84 0 0 1 0 0 PDZD8 118987 broad.mit.edu 37 10 119043585 119043585 + Missense_Mutation SNP C C G TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr10:119043585C>G ENST00000334464.5 - 5 2898 c.2659G>C c.(2659-2661)Gag>Cag p.E887Q NM_173791.3 NP_776152.1 Q8NEN9 PDZD8_HUMAN PDZ domain containing 8 887 intracellular signal transduction metal ion binding kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3) 38 Colorectal(252;0.19) all cancers(201;0.0121) ACAGAAGTCTCAGCTAGACAC 0.433000 8 53 0 0 1 0 0 TMEM43 79188 broad.mit.edu 37 3 14177406 14177406 + Missense_Mutation SNP G G C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr3:14177406G>C ENST00000306077.4 + 10 1134 c.880G>C c.(880-882)Gag>Cag p.E294Q NM_024334.2 NP_077310.1 Q9BTV4 TMM43_HUMAN transmembrane protein 43 294 endoplasmic reticulum|Golgi apparatus|integral to membrane|nuclear inner membrane breast(1)|cervix(3)|endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(2) 19 CTTCTCAGCAGAGGTGAGTGC 0.552000 5 68 0 0 1 0 0 RAC1 5879 broad.mit.edu 37 7 6441993 6441993 + Silent SNP C C T rs61753123 byFrequency TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr7:6441993C>T ENST00000348035.4 + 6 708 c.495C>T c.(493-495)ctC>ctT p.L165L RAC1_ENST00000488373.1_3'UTR|RAC1_ENST00000356142.4_Silent_p.L184L NM_006908.4 NP_008839.2 P63000 RAC1_HUMAN ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) 165 actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction cytosol|melanosome|plasma membrane GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 8 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.104) Pravastatin(DB00175)|Simvastatin(DB00641) AGCGAGGCCTCAAGACAGTGT 0.547000 7 92 0 0 1 0 0 L3MBTL3 84456 broad.mit.edu 37 6 130392265 130392265 + Missense_Mutation SNP G G A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr6:130392265G>A ENST00000529410.1 + 15 1716 c.1237G>A c.(1237-1239)Gac>Aac p.D413N L3MBTL3_ENST00000533560.1_Missense_Mutation_p.D388N|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.D388N|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.D413N|L3MBTL3_ENST00000526019.1_Missense_Mutation_p.D388N|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.D413N Q96JM7 LMBL3_HUMAN l(3)mbt-like 3 (Drosophila) 413 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1) 43 GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154) TGAGAGCTATGACTATTGGTG 0.343000 16 135 0 0 1 0 0 MGA 23269 broad.mit.edu 37 15 42021388 42021388 + Silent SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr15:42021388C>T ENST00000219905.7 + 11 3865 c.3684C>T c.(3682-3684)gtC>gtT p.V1228V MGA_ENST00000566586.1_Silent_p.V1228V|MGA_ENST00000545763.1_Silent_p.V1228V|MGA_ENST00000570161.1_Silent_p.V1228V|MGA_ENST00000389936.4_Silent_p.V1228V NM_001164273.1 NP_001157745.1 Q8IWI9 MGAP_HUMAN MGA, MAX dimerization protein 1228 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity p.V1228V(1) NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) AAGATCCAGTCTACTTGTACT 0.408000 5 14 0 0 1 0 0 FER1L6 654463 broad.mit.edu 37 8 125076587 125076587 + Splice_Site SNP G G T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr8:125076587G>T ENST00000522917.1 + 26 3534 c.e26-1 FER1L6_ENST00000399018.1_Splice_Site|FER1L6-AS2_ENST00000520031.1_RNA NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) TTTCATTTCAGATATTTCAGA 0.507000 17 107 4.14922e-12 4.53495e-12 1 1 0 AVEN 57099 broad.mit.edu 37 15 34159950 34159950 + Missense_Mutation SNP G G A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr15:34159950G>A ENST00000306730.3 - 5 848 c.719C>T c.(718-720)cCc>cTc p.P240L NM_020371.2 NP_065104.1 Q9NQS1 AVEN_HUMAN apoptosis, caspase activation inhibitor 240 anti-apoptosis|apoptosis endomembrane system|intracellular|membrane|membrane fraction protein binding cervix(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1) 7 all_lung(180;1.78e-08) all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359) CTCAAAGATGGGCCCCCTTCC 0.547000 6 84 0 0 1 0 0 RUSC2 9853 broad.mit.edu 37 9 35560367 35560367 + Missense_Mutation SNP G G C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr9:35560367G>C ENST00000455600.1 + 10 4299 c.3730G>C c.(3730-3732)Gaa>Caa p.E1244Q NM_001135999.1 NP_001129471.1 Q8N2Y8 RUSC2_HUMAN RUN and SH3 domain containing 2 1244 Poly-Glu. cytosol NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194) ggaagaggaagaagaggagac 0.687000 9 30 0 0 1 0 0 MUC21 394263 broad.mit.edu 37 6 30955308 30955308 + Silent SNP G G A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr6:30955308G>A ENST00000376296.3 + 2 1597 c.1356G>A c.(1354-1356)ctG>ctA p.L452L MUC21_ENST00000486149.2_5'UTR NM_001010909.2 NP_001010909.2 Q5SSG8 MUC21_HUMAN mucin 21, cell surface associated 452 integral to membrane|plasma membrane NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 CAGCAGCTCTGACTGGAATGC 0.577000 8 160 0 0 1 0 0 VPS16 64601 broad.mit.edu 37 20 2844651 2844651 + Silent SNP G G T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr20:2844651G>T ENST00000380445.3 + 16 1605 c.1533G>T c.(1531-1533)ctG>ctT p.L511L VPS16_ENST00000481812.2_3'UTR|VPS16_ENST00000380469.3_Silent_p.L367L|VPS16_ENST00000380443.3_Silent_p.L197L NM_022575.2 NP_072097.2 Q9H269 VPS16_HUMAN vacuolar protein sorting 16 homolog (S. cerevisiae) 511 intracellular protein transport early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 37 ACCAGAAGCTGGGGGACACGC 0.582000 5 135 1.23904e-05 1.28943e-05 1 1 0 OR10K1 391109 broad.mit.edu 37 1 158435818 158435818 + Missense_Mutation SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr1:158435818C>T ENST00000289451.2 + 1 547 c.467C>T c.(466-468)tCc>tTc p.S156F NM_001004473.1 NP_001004473.1 Q8NGX5 O10K1_HUMAN olfactory receptor, family 10, subfamily K, member 1 156 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 27 all_hematologic(112;0.0378) TTCACTGTCTCCCTGGTCACC 0.532000 22 203 0 0 1 0 0 MAD1L1 8379 broad.mit.edu 37 7 2188795 2188795 + Silent SNP G G A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr7:2188795G>A ENST00000406869.1 - 11 1622 c.1065C>T c.(1063-1065)gtC>gtT p.V355V MAD1L1_ENST00000265854.7_Silent_p.V355V|MAD1L1_ENST00000402746.1_Silent_p.V263V|MAD1L1_ENST00000399654.2_Silent_p.V355V Q9Y6D9 MD1L1_HUMAN MAD1 mitotic arrest deficient-like 1 (yeast) 355 cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle protein binding central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5) 36 Ovarian(82;0.0272) UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14) ACCTGCTGGTGACGGCGCTGT 0.582000 5 45 0 0 1 0 0 FAM53C 51307 broad.mit.edu 37 5 137682488 137682488 + Missense_Mutation SNP C C G TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr5:137682488C>G ENST00000239906.5 + 5 1447 c.1019C>G c.(1018-1020)tCt>tGt p.S340C FAM53C_ENST00000513056.1_3'UTR|FAM53C_ENST00000434981.2_Missense_Mutation_p.S340C NM_016605.2 NP_057689.1 Q9NYF3 FA53C_HUMAN family with sequence similarity 53, member C 340 breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) CCACCCCTCTCTGCTTCCTGC 0.622000 9 61 0 0 1 0 0 SPAG17 200162 broad.mit.edu 37 1 118629493 118629493 + Splice_Site SNP C C A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr1:118629493C>A ENST00000336338.5 - 11 1563 c.e11+1 NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) GGCTATCTGACCTTTTTCTCC 0.458000 33 105 8.16721e-17 8.97155e-17 1 1 0 FBN3 84467 broad.mit.edu 37 19 8176535 8176535 + Missense_Mutation SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr19:8176535C>T ENST00000600128.1 - 32 4495 c.4081G>A c.(4081-4083)Gaa>Aaa p.E1361K FBN3_ENST00000270509.2_Missense_Mutation_p.E1361K|FBN3_ENST00000601739.1_Missense_Mutation_p.E1361K Q75N90 FBN3_HUMAN fibrillin 3 1361 EGF-like 20; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 ATCTCACCTTCGCAGAAGAAG 0.642000 3 15 0 0 1 0 0 NCAPD3 23310 broad.mit.edu 37 11 134027892 134027892 + Missense_Mutation SNP G G A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr11:134027892G>A ENST00000534548.2 - 31 4169 c.4105C>T c.(4105-4107)Cgg>Tgg p.R1369W NM_015261.2 NP_056076.1 P42695 CNDD3_HUMAN non-SMC condensin II complex, subunit D3 1369 cell division|mitotic chromosome condensation nuclear centromeric heterochromatin|nuclear condensin complex methylated histone residue binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_hematologic(175;0.127) all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227) CTCCGACTCCGATGCCTGCTC 0.507000 20 200 0 0 1 0 0 RFC1 5981 broad.mit.edu 37 4 39304134 39304134 + Nonsense_Mutation SNP G G A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr4:39304134G>A ENST00000381897.1 - 18 2558 c.2425C>T c.(2425-2427)Caa>Taa p.Q809* RFC1_ENST00000349703.2_Nonsense_Mutation_p.Q808* NM_001204747.1|NM_002913.4 NP_001191676.1|NP_002904.3 P35251 RFC1_HUMAN replication factor C (activator 1) 1, 145kDa 809 DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 16 CTGATATCTTGATTGGCTCCC 0.353000 4 33 0 0 1 0 0 PTPN3 0 broad.mit.edu 37 9 112195361 112195361 + Missense_Mutation SNP G G C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr9:112195361G>C ENST00000412145.1 - 5 2916 c.363C>G c.(361-363)ttC>ttG p.F121L PTPN3_ENST00000374541.2_Missense_Mutation_p.F252L|PTPN3_ENST00000446349.1_Missense_Mutation_p.F121L|PTPN3_ENST00000262539.3_Missense_Mutation_p.F143L NM_001145369.1|NM_001145371.1 NP_001138841.1|NP_001138843.1 P26045 PTN3_HUMAN protein tyrosine phosphatase, non-receptor type 3 252 FERM. negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle cytoplasm|cytoskeleton|internal side of plasma membrane ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 ACCAAGGATAGAAACTTGTGC 0.348000 5 36 0 0 1 0 0 KIAA0753 9851 broad.mit.edu 37 17 6502580 6502580 + Missense_Mutation SNP C C G TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr17:6502580C>G ENST00000361413.3 - 14 2507 c.2149G>C c.(2149-2151)Gcg>Ccg p.A717P KIAA0753_ENST00000575027.1_5'UTR|KIAA0753_ENST00000542606.1_Missense_Mutation_p.A418P|KIAA0753_ENST00000589033.1_Missense_Mutation_p.A173P|KIAA0753_ENST00000572370.1_Missense_Mutation_p.A418P NM_014804.2 NP_055619.2 Q2KHM9 K0753_HUMAN KIAA0753 717 centrosome endometrium(4)|large_intestine(11)|lung(5)|prostate(4) 24 COAD - Colon adenocarcinoma(228;0.157) TGGGCTTTCGCTGTGTTTACT 0.358000 5 38 0 0 1 0 0 LRRIQ1 84125 broad.mit.edu 37 12 85450933 85450933 + Nonsense_Mutation SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr12:85450933C>T ENST00000393217.2 + 8 2423 c.2362C>T c.(2362-2364)Cga>Tga p.R788* NM_001079910.1 NP_001073379.1 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 788 p.R788*(2) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 83 GBM - Glioblastoma multiforme(134;0.212) GGAAATTCTTCGATGTGGCCC 0.323000 11 149 0 0 1 0 0 IQGAP2 10788 broad.mit.edu 37 5 75996926 75996926 + Missense_Mutation SNP G G C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr5:75996926G>C ENST00000274364.6 + 34 4690 c.4393G>C c.(4393-4395)Gat>Cat p.D1465H IQGAP2_ENST00000502745.1_Missense_Mutation_p.D961H|IQGAP2_ENST00000396234.3_Missense_Mutation_p.D961H|IQGAP2_ENST00000379730.3_Missense_Mutation_p.D967H|CTD-2384B11.2_ENST00000507514.1_RNA NM_006633.2 NP_006624.2 Q13576 IQGA2_HUMAN IQ motif containing GTPase activating protein 2 1465 small GTPase mediated signal transduction actin cytoskeleton actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) AATTAAACTAGATGGAAAAGG 0.423000 9 46 0 0 1 0 0 CDK5RAP3 80279 broad.mit.edu 37 17 46053347 46053347 + Missense_Mutation SNP G G A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr17:46053347G>A ENST00000536708.2 + 8 950 c.841G>A c.(841-843)Gag>Aag p.E281K CDK5RAP3_ENST00000338399.4_Missense_Mutation_p.E256K NM_001278197.1 NP_001265126.1 Q96JB5 CK5P3_HUMAN CDK5 regulatory subunit associated protein 3 256 brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation neuronal Cdc2-like kinase binding NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 18 ACCCCACCTCGAGGAGCTTCC 0.607000 10 70 0 0 1 0 0 GABRA2 2555 broad.mit.edu 37 4 46252592 46252592 + Silent SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr4:46252592C>T ENST00000510861.1 - 10 1262 c.1089G>A c.(1087-1089)caG>caA p.Q363Q GABRA2_ENST00000381620.4_Silent_p.Q363Q|GABRA2_ENST00000540012.1_Silent_p.Q368Q|GABRA2_ENST00000514090.1_Silent_p.Q363Q|GABRA2_ENST00000356504.1_Silent_p.Q363Q|GABRA2_ENST00000507069.1_Silent_p.Q423Q P47869 GBRA2_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 2 363 gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 56 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) AAGCGTTGTTCTGTATCATAA 0.408000 10 83 0 0 1 0 0 KCNA3 3738 broad.mit.edu 37 1 111216487 111216487 + Silent SNP G G A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr1:111216487G>A ENST00000369769.2 - 1 1168 c.945C>T c.(943-945)ttC>ttT p.F315F NM_002232.3 NP_002223.3 P22001 KCNA3_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 3 315 voltage-gated potassium channel complex delayed rectifier potassium channel activity endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1) 38 all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133) TAGGACAAGCGAAGAACCGCA 0.557000 24 95 0 0 1 0 0 SLCO1C1 53919 broad.mit.edu 37 12 20905332 20905332 + Nonsense_Mutation SNP C C G TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr12:20905332C>G ENST00000266509.2 + 15 2377 c.2009C>G c.(2008-2010)tCa>tGa p.S670* SLCO1C1_ENST00000381552.1_Missense_Mutation_p.F704L|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.F586L|SLCO1C1_ENST00000540354.1_Nonsense_Mutation_p.S621*|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.F704L NM_017435.4 NP_059131.1 Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, member 1C1 670 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 60 Esophageal squamous(101;0.149) AATTATGTTTCAAAACACAGA 0.343000 4 36 0 0 1 0 0 TECR 9524 broad.mit.edu 37 19 14675027 14675027 + Missense_Mutation SNP C C G TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr19:14675027C>G ENST00000436007.2 + 8 586 c.462C>G c.(460-462)atC>atG p.I154M TECR_ENST00000215567.5_Missense_Mutation_p.I139M|TECR_ENST00000600083.1_5'UTR|TECR_ENST00000596073.1_5'UTR Q9NZ01 TECR_HUMAN trans-2,3-enoyl-CoA reductase 139 fatty acid elongation|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process integral to endoplasmic reticulum membrane trans-2-enoyl-CoA reductase (NADPH) activity|very long-chain-acyl-CoA dehydrogenase activity endometrium(1)|large_intestine(1)|ovary(1) 3 TCCACTACATCAAGCGCCTGC 0.627000 15 94 0 0 1 0 0 HEATR5B 54497 broad.mit.edu 37 2 37291994 37291994 + Silent SNP G G C rs142538657 TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr2:37291994G>C ENST00000233099.5 - 10 1568 c.1473C>G c.(1471-1473)ctC>ctG p.L491L HEATR5B_ENST00000354531.2_Silent_p.L491L NM_019024.1 NP_061897.1 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 491 binding p.L491L(1) breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 77 all_hematologic(82;0.21) TCAAGTTGTTGAGCCGTTCTG 0.507000 22 44 0 0 1 0 0 RNF111 54778 broad.mit.edu 37 15 59373350 59373350 + Missense_Mutation SNP C C A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr15:59373350C>A ENST00000348370.4 + 8 2597 c.2164C>A c.(2164-2166)Cag>Aag p.Q722K RNF111_ENST00000557998.1_Missense_Mutation_p.Q722K|RNF111_ENST00000561186.1_Missense_Mutation_p.Q722K|RNF111_ENST00000559209.1_Missense_Mutation_p.Q722K|RNF111_ENST00000434298.1_Missense_Mutation_p.Q722K NM_001270528.1|NM_001270529.1|NM_017610.7 NP_001257457.1|NP_001257458.1|NP_060080.6 Q6ZNA4 RN111_HUMAN ring finger protein 111 722 Pro-rich. multicellular organismal development|positive regulation of transcription, DNA-dependent cytoplasm|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding p.Q722*(1) breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all cancers(107;0.194) ACCAATCCCTCAGCATCTTCC 0.502000 16 116 1.3612e-06 1.44069e-06 1 1 0 ATP6AP1 537 broad.mit.edu 37 X 153663762 153663762 + Missense_Mutation SNP G G A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chrX:153663762G>A ENST00000369762.2 + 9 1175 c.1114G>A c.(1114-1116)Gag>Aag p.E372K NM_001183.4 NP_001174.2 Q15904 VAS1_HUMAN ATPase, H+ transporting, lysosomal accessory protein 1 372 ATP hydrolysis coupled proton transport integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5) 14 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CTTCCACTGCGAGTATGTCAG 0.592000 21 51 0 0 1 0 0 SLC35E4 339665 broad.mit.edu 37 22 31042916 31042916 + Silent SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr22:31042916C>T ENST00000343605.4 + 2 1750 c.951C>T c.(949-951)ctC>ctT p.L317L SLC35E4_ENST00000300385.8_Intron|SLC35E4_ENST00000406566.1_Intron NM_001001479.2 NP_001001479.1 Q6ICL7 S35E4_HUMAN solute carrier family 35, member E4 317 Leu-rich. integral to membrane autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1) 10 GCATCGCACTCACTCTTTCAG 0.627000 10 70 0 0 1 0 0 NUP50 10762 broad.mit.edu 37 22 45577223 45577223 + Missense_Mutation SNP G G C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr22:45577223G>C ENST00000347635.3 + 6 1526 c.1060G>C c.(1060-1062)Gaa>Caa p.E354Q NUP50_ENST00000425733.2_Missense_Mutation_p.E104Q|NUP50_ENST00000407019.2_Missense_Mutation_p.E326Q|NUP50_ENST00000396096.2_Missense_Mutation_p.E326Q NM_007172.3 NP_009103.2 Q9UKX7 NUP50_HUMAN nucleoporin 50kDa 354 RanBD1. carbohydrate metabolic process|glucose transport|intracellular transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore|nucleoplasm protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 9 Ovarian(80;0.00965)|all_neural(38;0.0244) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178) CGAAGTAAAAGAAGAAGATGC 0.418000 4 54 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170058204 170058204 + Missense_Mutation SNP G G A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr2:170058204G>A ENST00000263816.3 - 44 8671 c.8386C>T c.(8386-8388)Cgt>Tgt p.R2796C NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 2796 LDL-receptor class A 18. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) ATAAACTCACGAGGTATGCAC 0.433000 5 64 0 0 1 0 0 TAF6L 10629 broad.mit.edu 37 11 62549791 62549791 + Silent SNP C C G TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr11:62549791C>G ENST00000294168.3 + 8 1014 c.813C>G c.(811-813)ctC>ctG p.L271L TMEM223_ENST00000527073.1_Intron NM_006473.3 NP_006464.1 Q9Y6J9 TAF6L_HUMAN TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa 271 chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent histone deacetylase complex|STAGA complex DNA binding|protein binding|transcription coactivator activity endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1) 16 CCCTCCTGCTCAGCCACATCT 0.607000 37 100 0 0 1 0 0 KDM6B 23135 broad.mit.edu 37 17 7748879 7748879 + Missense_Mutation SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr17:7748879C>T ENST00000254846.5 + 4 396 c.7C>T c.(7-9)Cgg>Tgg p.R3W KDM6B_ENST00000448097.2_Missense_Mutation_p.R3W NM_001080424.1 NP_001073893.1 O15054 KDM6B_HUMAN lysine (K)-specific demethylase 6B 3 inflammatory response nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5) 37 CTGGATGCATCGGGCAGTGGA 0.637000 10 108 0 0 1 0 0 STXBP5L 9515 broad.mit.edu 37 3 121126326 121126326 + Missense_Mutation SNP C C G TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr3:121126326C>G ENST00000273666.6 + 24 3167 c.2896C>G c.(2896-2898)Cag>Gag p.Q966E STXBP5L_ENST00000471454.1_Missense_Mutation_p.Q942E|STXBP5L_ENST00000472879.1_Missense_Mutation_p.Q942E|STXBP5L_ENST00000497029.1_Missense_Mutation_p.Q940E|STXBP5L_ENST00000492541.1_Missense_Mutation_p.Q966E NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 966 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) ACTGCCTTCTCAGACTTGCCT 0.418000 12 71 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40395956 40395956 + Missense_Mutation SNP G G C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr19:40395956G>C ENST00000221347.6 - 15 7448 c.7441C>G c.(7441-7443)Cag>Gag p.Q2481E NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 2481 VWFD 6. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) CCGCAGGTCTGAGCCAGCACA 0.642000 29 311 0 0 1 0 0 MST1 4485 broad.mit.edu 37 3 49723897 49723897 + Missense_Mutation SNP G G A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr3:49723897G>A ENST00000449682.2 - 8 1226 c.865C>T c.(865-867)Cgc>Tgc p.R289C MST1_ENST00000545762.1_3'UTR|MST1_ENST00000383728.3_Missense_Mutation_p.R214C NM_020998.3 NP_066278.3 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth factor-like) 275 Kringle 3. proteolysis extracellular region serine-type endopeptidase activity NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) GCCTCTTGGCGGGGCTGTGCC 0.657000 4 27 0 0 1 0 0 GRN 2896 broad.mit.edu 37 17 42429011 42429011 + Missense_Mutation SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr17:42429011C>T ENST00000053867.3 + 10 1089 c.1027C>T c.(1027-1029)Ccc>Tcc p.P343S GRN_ENST00000589265.1_Missense_Mutation_p.P186S|GRN_ENST00000589923.1_3'UTR NM_002087.2 NP_002078.1 P28799 GRN_HUMAN granulin 343 signal transduction extracellular space cytokine activity|growth factor activity central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.189) CCACCAGGTGCCCTGGATGGA 0.607000 34 67 0 0 1 0 0 TLR2 7097 broad.mit.edu 37 4 154626043 154626043 + Missense_Mutation SNP G G C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr4:154626043G>C ENST00000260010.6 + 1 3392 c.1984G>C c.(1984-1986)Gag>Cag p.E662Q NM_003264.3 NP_003255.2 O60603 TLR2_HUMAN toll-like receptor 2 662 TIR. cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 29 all_hematologic(180;0.093) Renal(120;0.117) TATGGTCCAGGAGCTGGAGAA 0.473000 10 60 0 0 1 0 0 PYHIN1 149628 broad.mit.edu 37 1 158909028 158909028 + Silent SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr1:158909028C>T ENST00000368140.1 + 4 815 c.570C>T c.(568-570)tcC>tcT p.S190S PYHIN1_ENST00000392252.3_Silent_p.S181S|PYHIN1_ENST00000368138.3_Silent_p.S181S|PYHIN1_ENST00000368135.4_Silent_p.S190S|PYHIN1_ENST00000392254.2_Silent_p.S190S NM_152501.4|NM_198928.4|NM_198929.4 NP_689714.2|NP_945146.1|NP_945147.1 Q6K0P9 IFIX_HUMAN pyrin and HIN domain family, member 1 190 cell cycle nuclear speck breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(112;0.0378) CCAACACTTCCTCAACTGAGG 0.502000 7 127 0 0 1 0 0 PLEKHJ1 55111 broad.mit.edu 37 19 2233840 2233840 + Silent SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr19:2233840C>T ENST00000589097.1 - 7 1562 c.449G>A c.(448-450)tGa>tAa p.*150* PLEKHJ1_ENST00000587962.1_3'UTR|PLEKHJ1_ENST00000591099.1_3'UTR|PLEKHJ1_ENST00000586608.1_Silent_p.*151*|PLEKHJ1_ENST00000326631.2_Silent_p.*150*|PLEKHJ1_ENST00000588545.1_Silent_p.*131*|PLEKHJ1_ENST00000587394.1_Intron|PLEKHJ1_ENST00000589791.1_5'UTR Q9NW61 PKHJ1_HUMAN pleckstrin homology domain containing, family J member 1 0 protein binding endometrium(1)|kidney(1) 2 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCCCTGCGCTCACGCCTGCAA 0.637000 4 20 0 0 1 0 0 TVP23B 51030 broad.mit.edu 37 17 18692746 18692746 + Missense_Mutation SNP C C G TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr17:18692746C>G ENST00000307767.8 + 2 392 c.93C>G c.(91-93)atC>atG p.I31M TVP23B_ENST00000476139.1_5'UTR|TVP23B_ENST00000581733.1_5'UTR|TVP23B_ENST00000574226.1_Missense_Mutation_p.I31M NM_016078.4 NP_057162.4 trans-golgi network vesicle protein 23 homolog B (S. cerevisiae) AAGCCAAAATCAGGTAGGAGG 0.428000 5 75 0 0 1 0 0 COL4A5 1287 broad.mit.edu 37 X 107834449 107834449 + Missense_Mutation SNP C C G TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chrX:107834449C>G ENST00000328300.6 + 20 1571 c.1327C>G c.(1327-1329)Cac>Gac p.H443D COL4A5_ENST00000361603.2_Missense_Mutation_p.H443D NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 443 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 TGCTGGCCCTCACATTCCTCC 0.458000 Alport syndrome with Diffuse Leiomyomatosis 5 78 0 0 1 0 0 TIMELESS 8914 broad.mit.edu 37 12 56825346 56825346 + Missense_Mutation SNP G G C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr12:56825346G>C ENST00000229201.4 - 8 881 c.727C>G c.(727-729)Cag>Gag p.Q243E TIMELESS_ENST00000554616.1_Missense_Mutation_p.Q244E|TIMELESS_ENST00000553532.1_Missense_Mutation_p.Q244E NM_003920.3 NP_003911.2 Q9UNS1 TIM_HUMAN timeless circadian clock 244 cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent nuclear chromatin NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 49 CTCCGCTCCTGAGCTAAGCGT 0.552000 7 55 0 0 1 0 0 PRR5L 79899 broad.mit.edu 37 11 36484194 36484194 + Missense_Mutation SNP G G C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr11:36484194G>C ENST00000378867.3 + 10 1370 c.1015G>C c.(1015-1017)Gag>Cag p.E339Q PRR5L_ENST00000311599.5_Missense_Mutation_p.E266Q|PRR5L_ENST00000389693.3_3'UTR|PRR5L_ENST00000530639.1_Missense_Mutation_p.E339Q NM_024841.4 NP_079117.3 Q6MZQ0 PRR5L_HUMAN proline rich 5 like 339 breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1) 19 GTGCTCCAGTGAGCCCAACAT 0.667000 11 38 0 0 1 0 0 CHD9 80205 broad.mit.edu 37 16 53340214 53340214 + Missense_Mutation SNP G G A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr16:53340214G>A ENST00000566029.1 + 32 6894 c.6685G>A c.(6685-6687)Gag>Aag p.E2229K CHD9_ENST00000447540.1_Missense_Mutation_p.E2230K|CHD9_ENST00000564845.1_Missense_Mutation_p.E2229K|CHD9_ENST00000398510.3_Missense_Mutation_p.E2229K Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 2229 cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 78 all_cancers(37;0.0212) TACCCAGGATGAGACTCAGGA 0.398000 4 38 0 0 1 0 0 CEP89 84902 broad.mit.edu 37 19 33370197 33370197 + Silent SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr19:33370197C>T ENST00000305768.4 - 19 2311 c.2223G>A c.(2221-2223)acG>acA p.T741T NM_032816.3 NP_116205.3 Q96ST8 CEP89_HUMAN centrosomal protein 89kDa 741 centrosome|spindle pole breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 35 CGCCTGTCCTCGTGAGTGTGT 0.532000 5 217 0 0 1 0 0 KIAA0907 22889 broad.mit.edu 37 1 155887352 155887352 + Missense_Mutation SNP G G C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr1:155887352G>C ENST00000368320.3 - 11 1403 c.1378C>G c.(1378-1380)Cag>Gag p.Q460E KIAA0907_ENST00000368321.3_Missense_Mutation_p.Q460E Q7Z7F0 K0907_HUMAN KIAA0907 460 breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1) 21 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) CGTCTCTTCTGTGCCTGGGGC 0.537000 18 158 0 0 1 0 0 OR2T34 127068 broad.mit.edu 37 1 248737522 248737522 + Silent SNP G G A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr1:248737522G>A ENST00000328782.2 - 1 558 c.537C>T c.(535-537)atC>atT p.I179I NM_001001821.1 NP_001001821.1 Q8NGX1 O2T34_HUMAN olfactory receptor, family 2, subfamily T, member 34 179 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3) 43 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) AAAAACTCAGGATTTTCCTAG 0.522000 20 43 0 0 1 0 0 CCNI 10983 broad.mit.edu 37 4 77969711 77969711 + Silent SNP G G A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr4:77969711G>A ENST00000237654.4 - 7 1371 c.795C>T c.(793-795)ctC>ctT p.L265L CCNI_ENST00000537948.1_Silent_p.L251L NM_006835.2 NP_006826.1 Q14094 CCNI_HUMAN cyclin I 265 spermatogenesis NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1) 9 GGGTGTGCTTGAGGGGACGGT 0.527000 11 82 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13753449 13753449 + Missense_Mutation SNP G G C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr5:13753449G>C ENST00000265104.4 - 63 10869 c.10765C>G c.(10765-10767)Caa>Gaa p.Q3589E NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3589 AAA 5 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) ATTCCATTTTGAATGGACAAG 0.383000 Kartagener syndrome 11 57 0 0 1 0 0 RP11-435B5.4 0 broad.mit.edu 37 1 143403554 143403554 + RNA SNP T T G TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr1:143403554T>G ENST00000423249.1 - 0 59 GGAACAGGATTTCTTTGGCCA 0.468000 3 10 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578534 7578534 + Missense_Mutation SNP C C A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr17:7578534C>A ENST00000420246.2 - 5 528 c.396G>T c.(394-396)aaG>aaT p.K132N TP53_ENST00000269305.4_Missense_Mutation_p.K132N|TP53_ENST00000359597.4_Missense_Mutation_p.K132N|TP53_ENST00000455263.2_Missense_Mutation_p.K132N|TP53_ENST00000445888.2_Missense_Mutation_p.K132N|TP53_ENST00000413465.2_Missense_Mutation_p.K132N NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 132 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|KM -> NL (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.K132N(49)|p.0?(8)|p.Y126_K132delYSPALNK(6)|p.K39N(2)|p.N131fs*27(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.K132K(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.M133fs*37(1)|p.M133fs*16(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GGCAAAACATCTTGTTGAGGG 0.562000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 25 32 1.64293e-13 1.80019e-13 1 1 0 PCNT 5116 broad.mit.edu 37 21 47831535 47831535 + Missense_Mutation SNP G G A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr21:47831535G>A ENST00000359568.5 + 28 5655 c.5548G>A c.(5548-5550)Gaa>Aaa p.E1850K PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 1850 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) GGCTGAGGTCGAAGACATGGC 0.617000 7 60 0 0 1 0 0 PDCL 5082 broad.mit.edu 37 9 125588934 125588934 + Missense_Mutation SNP C C G TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr9:125588934C>G ENST00000259467.4 - 2 298 c.133G>C c.(133-135)Gag>Cag p.E45Q NM_005388.4 NP_005379.3 Q13371 PHLP_HUMAN phosducin-like 45 signal transduction|visual perception endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1) 10 AGCTCAGCCTCTGCAGGCACA 0.502000 6 45 0 0 1 0 0 PTPN13 0 broad.mit.edu 37 4 87724875 87724875 + Silent SNP G G C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr4:87724875G>C ENST00000436978.1 + 43 7014 c.6534G>C c.(6532-6534)ctG>ctC p.L2178L PTPN13_ENST00000316707.6_Silent_p.L1982L|PTPN13_ENST00000427191.2_Silent_p.L2154L|PTPN13_ENST00000411767.2_Silent_p.L2173L|PTPN13_ENST00000511467.1_Silent_p.L2178L NM_080683.2|NM_080685.2 NP_542414.1|NP_542416.1 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) 2173 cytoplasm|cytoskeleton|plasma membrane protein binding|protein tyrosine phosphatase activity NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) ATTCCTTTCTGACAAACGATG 0.423000 8 82 0 0 1 0 0 PKN1 5585 broad.mit.edu 37 19 14578566 14578566 + Missense_Mutation SNP C C G TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr19:14578566C>G ENST00000242783.6 + 14 2010 c.1845C>G c.(1843-1845)ttC>ttG p.F615L PKN1_ENST00000342216.4_Missense_Mutation_p.F621L NM_002741.3 NP_002732.3 Q16512 PKN1_HUMAN protein kinase N1 615 Protein kinase. activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent endosome|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1) 31 TCGAAGATTTCAAGTTCCTGG 0.632000 7 74 0 0 1 0 0 SMARCA5 8467 broad.mit.edu 37 4 144445612 144445612 + Missense_Mutation SNP C C G TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr4:144445612C>G ENST00000283131.3 + 4 974 c.512C>G c.(511-513)tCt>tGt p.S171C NM_003601.3 NP_003592.3 O60264 SMCA5_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 171 CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding EWSR1/SMARCA5(2) endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_hematologic(180;0.158) TTTGAAGACTCTCCATCGTGT 0.378000 5 41 0 0 1 0 0 TSGA13 114960 broad.mit.edu 37 7 130356587 130356587 + Nonsense_Mutation SNP G G C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr7:130356587G>C ENST00000456951.1 - 8 1423 c.572C>G c.(571-573)tCa>tGa p.S191* TSGA13_ENST00000356588.3_Nonsense_Mutation_p.S191* Q96PP4 TSG13_HUMAN testis specific, 13 191 endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 18 Melanoma(18;0.0435) GTAGACTTTTGAATACTTCCC 0.423000 14 57 0 0 1 0 0 WRN 7486 broad.mit.edu 37 8 30989971 30989971 + Missense_Mutation SNP C C G TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr8:30989971C>G ENST00000298139.5 + 24 3165 c.2916C>G c.(2914-2916)atC>atG p.I972M NM_000553.4 NP_000544.2 Q14191 WRN_HUMAN Werner syndrome, RecQ helicase-like 972 base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3) 60 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) CTGTGGACATCTTAGGCGAAA 0.368000 """Mis, N, F, S""" """osteosarcoma, meningioma, others""" Genes defective in diseases associated with sensitivity to DNA damaging agents Werner syndrome 6 21 0 0 1 0 0 MGAT4A 11320 broad.mit.edu 37 2 99294911 99294911 + Missense_Mutation SNP C C G TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr2:99294911C>G ENST00000393487.1 - 3 431 c.118G>C c.(118-120)Gaa>Caa p.E40Q MGAT4A_ENST00000264968.2_Missense_Mutation_p.E40Q|MGAT4A_ENST00000409391.1_Missense_Mutation_p.E40Q NM_012214.2 NP_036346.1 Q9UM21 MGT4A_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A 40 N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine extracellular region|Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1) 19 GCAAGGAATTCTCGTTGATAA 0.338000 5 26 0 0 1 0 0 TASP1 55617 broad.mit.edu 37 20 13463939 13463939 + Nonsense_Mutation SNP G G C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr20:13463939G>C ENST00000337743.4 - 11 1040 c.920C>G c.(919-921)tCa>tGa p.S307* TASP1_ENST00000539805.1_Missense_Mutation_p.H110D|TASP1_ENST00000480436.1_5'UTR NM_017714.2 NP_060184.2 Q9H6P5 TASP1_HUMAN taspase, threonine aspartase, 1 307 asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation threonine-type endopeptidase activity NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2) 31 TAAAGCATGTGAACATTCTCT 0.418000 9 107 0 0 1 0 0 RGS12 6002 broad.mit.edu 37 4 3318236 3318236 + Silent SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr4:3318236C>T ENST00000336727.3 + 2 1243 c.339C>T c.(337-339)ctC>ctT p.L113L RGS12_ENST00000344733.5_Silent_p.L113L|RGS12_ENST00000543385.1_Silent_p.L113L|RGS12_ENST00000382788.3_Silent_p.L113L NM_002926.3 NP_002917.1 O14924 RGS12_HUMAN regulator of G-protein signaling 12 113 condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) AAGGGGGACTCTATGAAGGAA 0.488000 4 71 0 0 1 0 0 MNT 4335 broad.mit.edu 37 17 2303970 2303970 + Silent SNP G G A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr17:2303970G>A ENST00000174618.4 - 1 442 c.37C>T c.(37-39)Ctg>Ttg p.L13L NM_020310.2 NP_064706.1 Q99583 MNT_HUMAN MAX network transcriptional repressor 13 multicellular organismal development|negative regulation of cell proliferation|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 12 Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05) TGCCATTCCAGGAAGCGGGCC 0.731000 9 3 0 0 1 0 0 SFRP4 6424 broad.mit.edu 37 7 37951728 37951728 + Missense_Mutation SNP G G A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr7:37951728G>A ENST00000436072.2 - 4 1161 c.784C>T c.(784-786)Cgc>Tgc p.R262C EPDR1_ENST00000476620.1_Intron NM_003014.3 NP_003005.2 Q6FHJ7 SFRP4_HUMAN secreted frizzled-related protein 4 262 NTR. brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway cell surface|cytoplasm|extracellular space|nucleus PDZ domain binding|Wnt receptor activity|Wnt-protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 TACCTTGAGCGCCACTCGTAA 0.443000 7 61 0 0 1 0 0 HERC2P9 0 broad.mit.edu 37 15 28900755 28900755 + RNA SNP A A G TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr15:28900755A>G ENST00000528584.1 + 0 162 NR_036443.1 TCCCTGACTCAGTGGAATGGG 0.617000 4 28 0 0 1 0 0 AGR3 155465 broad.mit.edu 37 7 16901059 16901059 + Missense_Mutation SNP C C G TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr7:16901059C>G ENST00000310398.2 - 6 386 c.316G>C c.(316-318)Gat>Cat p.D106H AGR3_ENST00000402239.3_Missense_Mutation_p.D106H NM_176813.3 NP_789783.1 Q8TD06 AGR3_HUMAN anterior gradient 3 106 extracellular region central_nervous_system(1)|kidney(8)|lung(2)|skin(1)|stomach(1) 13 Lung NSC(10;0.0376)|all_lung(11;0.0721)|all_epithelial(12;0.202) UCEC - Uterine corpus endometrioid carcinoma (126;0.184) AAATTCTTATCAGTGGTTTCA 0.318000 5 53 0 0 1 0 0 CP 1356 broad.mit.edu 37 3 148899820 148899820 + Missense_Mutation SNP C C G TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr3:148899820C>G ENST00000264613.6 - 14 2788 c.2526G>C c.(2524-2526)gaG>gaC p.E842D NM_000096.3 NP_000087.1 P00450 CERU_HUMAN ceruloplasmin (ferroxidase) 842 F5/8 type A 3.|Plastocyanin-like 5. cellular iron ion homeostasis|copper ion transport|transmembrane transport extracellular space chaperone binding|ferroxidase activity breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152) LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) Drotrecogin alfa(DB00055) CTGTAGAACTCTCTGTTTGTA 0.468000 11 88 0 0 1 0 0 CTU2 348180 broad.mit.edu 37 16 88780614 88780614 + Missense_Mutation SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr16:88780614C>T ENST00000567949.1 + 10 1298 c.1289C>T c.(1288-1290)tCc>tTc p.S430F CTU2_ENST00000453996.2_Missense_Mutation_p.S359F|CTU2_ENST00000312060.5_Missense_Mutation_p.S359F|CTU2_ENST00000378384.3_Missense_Mutation_p.S272F Q2VPK5 CTU2_HUMAN cytosolic thiouridylase subunit 2 homolog (S. pombe) 359 tRNA thio-modification|tRNA wobble uridine modification cytoplasm|protein complex|soluble fraction protein binding NS(1)|breast(1)|endometrium(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 11 CAGTTCCCCTCCACTGTCAGC 0.627000 8 58 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100683260 100683260 + Missense_Mutation SNP G G A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr7:100683260G>A ENST00000306151.4 + 3 8627 c.8563G>A c.(8563-8565)Gaa>Aaa p.E2855K NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2855 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) TACAACTGCTGAAGGTATCGT 0.507000 8 586 0 0 1 0 0 PSG8 0 broad.mit.edu 37 19 43268424 43268424 + Missense_Mutation SNP A A G TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr19:43268424A>G ENST00000404209.4 - 2 170 c.74T>C c.(73-75)tTa>tCa p.L25S PSG8_ENST00000406636.3_Intron|PSG8_ENST00000401467.2_Missense_Mutation_p.L25S|PSG8_ENST00000306511.4_Missense_Mutation_p.L25S NM_001130167.1 NP_001123639.1 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 25 extracellular region breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40 Prostate(69;0.00899) CCAGAAGTTTAAAAGTGATGC 0.478000 11 145 0 0 1 0 0 BFSP2 8419 broad.mit.edu 37 3 133185774 133185774 + Missense_Mutation SNP C C A rs140878916 TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr3:133185774C>A ENST00000302334.2 + 5 1083 c.994C>A c.(994-996)Cag>Aag p.Q332K BFSP2_ENST00000511434.1_3'UTR NM_003571.2 NP_003562.1 Q13515 BFSP2_HUMAN beaded filament structural protein 2, phakinin 332 Rod. response to stimulus|visual perception cytoplasm|intermediate filament|membrane structural constituent of cytoskeleton|structural constituent of eye lens NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1) 13 CCAGAGCCTCCAGGCTGAGAC 0.537000 6 68 2.0095e-06 2.12168e-06 1 1 0 PTPRM 5797 broad.mit.edu 37 18 8406128 8406128 + Missense_Mutation SNP G G A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr18:8406128G>A ENST00000332175.8 + 31 5364 c.4327G>A c.(4327-4329)Gag>Aag p.E1443K PTPRM_ENST00000400053.4_Missense_Mutation_p.E1381K|PTPRM_ENST00000400060.4_Missense_Mutation_p.E1457K|PTPRM_ENST00000580170.1_Missense_Mutation_p.E1456K|PTPRM_ENST00000444013.1_Missense_Mutation_p.E1230K NM_002845.3 NP_002836.3 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 1443 Tyrosine-protein phosphatase 2. homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 90 Colorectal(10;0.234) GTTCTGCTACGAGGTGGCCCT 0.453000 5 42 0 0 1 0 0 BRWD1 54014 broad.mit.edu 37 21 40636563 40636563 + Missense_Mutation SNP C C A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr21:40636563C>A ENST00000342449.3 - 17 1786 c.1708G>T c.(1708-1710)Gat>Tat p.D570Y BRWD1_ENST00000333229.2_Missense_Mutation_p.D570Y|BRWD1_ENST00000380800.3_Missense_Mutation_p.D570Y NM_033656.3 NP_387505.1 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 570 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2) 58 Prostate(19;8.44e-08)|all_epithelial(19;0.223) TTATTAGAATCTCTAATAAGT 0.373000 6 22 0.00198382 0.0020305 1 1 0 POTEH 23784 broad.mit.edu 37 22 16279214 16279214 + Missense_Mutation SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr22:16279214C>T ENST00000343518.6 - 4 1060 c.1009G>A c.(1009-1011)Gca>Aca p.A337T NM_001136213.1 NP_001129685.1 Q6S545 POTEH_HUMAN POTE ankyrin domain family, member H 337 p.A337S(1) NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2) 37 CTATCCAGTGCATTTAAATTT 0.313000 11 233 0 0 1 0 0 EHBP1 23301 broad.mit.edu 37 2 63053311 63053311 + Silent SNP C C A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr2:63053311C>A ENST00000263991.5 + 6 884 c.402C>A c.(400-402)gtC>gtA p.V134V EHBP1_ENST00000405289.1_Silent_p.V134V|EHBP1_ENST00000354487.3_Silent_p.V134V|AC007098.1_ENST00000452397.1_RNA|EHBP1_ENST00000405015.3_Silent_p.V134V|EHBP1_ENST00000431489.1_Silent_p.V134V NM_015252.3 NP_056067.2 Q8NDI1 EHBP1_HUMAN EH domain binding protein 1 134 cytoplasm|membrane biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 47 Lung NSC(7;0.0951)|all_lung(7;0.169) LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189) AGACTGATGTCAAGTTAAAAT 0.398000 7 41 0.00198382 0.0020305 1 1 0 INPP5A 3632 broad.mit.edu 37 10 134563349 134563349 + Splice_Site SNP G G A rs142848612 TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr10:134563349G>A ENST00000368594.3 + 11 1180 c.903_splice c.e11+1 p.A301_splice INPP5A_ENST00000368593.3_Splice_Site_p.A301_splice NM_005539.3 NP_005530.3 Q14642 I5P1_HUMAN inositol polyphosphate-5-phosphatase, 40kDa 301 cell communication membrane inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326) ACGGCACCGCGGTGAGTTTGT 0.562000 17 81 0 0 1 0 0 SAMD9L 219285 broad.mit.edu 37 7 92765171 92765171 + Silent SNP G G A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr7:92765171G>A ENST00000318238.4 - 5 1330 c.114C>T c.(112-114)ctC>ctT p.L38L SAMD9L_ENST00000437805.1_Silent_p.L38L|SAMD9L_ENST00000411955.1_Silent_p.L38L NM_152703.2 NP_689916.2 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 38 SAM. central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) CTTCTTCACTGAGCAGAATTT 0.398000 4 85 0 0 1 0 0 PLS3 5358 broad.mit.edu 37 X 114856633 114856633 + Missense_Mutation SNP G G T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chrX:114856633G>T ENST00000420625.2 + 3 283 c.149G>T c.(148-150)gGa>gTa p.G50V PLS3_ENST00000539310.1_Missense_Mutation_p.G5V|PLS3_ENST00000537301.1_Missense_Mutation_p.G28V|PLS3_ENST00000355899.3_Missense_Mutation_p.G50V|PLS3_ENST00000289290.3_Missense_Mutation_p.G5V NM_001136025.3|NM_001172335.1 NP_001129497.1|NP_001165806.1 P13797 PLST_HUMAN plastin 3 50 cytoplasm actin binding|calcium ion binding NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11) 26 CCATTACCAGGATATAAAGTG 0.353000 9 76 1.12685e-05 1.17832e-05 1 1 0 FAM86JP 0 broad.mit.edu 37 3 125647396 125647396 + RNA SNP T T C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr3:125647396T>C ENST00000485843.1 + 0 541 NR_024251.1 TGTTTCCCTATGAAGAGCACT 0.502000 4 119 0 0 1 0 0 PLEKHA8 84725 broad.mit.edu 37 7 30088967 30088967 + Missense_Mutation SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr7:30088967C>T ENST00000449726.1 + 5 916 c.566C>T c.(565-567)tCa>tTa p.S189L PLEKHA8_ENST00000258679.7_Missense_Mutation_p.S189L|PLEKHA8_ENST00000396257.2_Missense_Mutation_p.S189L|PLEKHA8_ENST00000396259.1_Missense_Mutation_p.S189L NM_001197027.1 NP_001183956.1 Q96JA3 PKHA8_HUMAN pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8 189 protein transport cytoplasm glycolipid binding|glycolipid transporter activity breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1) 17 CCACCAGGATCACCTCAGCTG 0.458000 8 91 0 0 1 0 0 PKDREJ 10343 broad.mit.edu 37 22 46653081 46653081 + Missense_Mutation SNP C C G TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr22:46653081C>G ENST00000253255.5 - 1 6138 c.6139G>C c.(6139-6141)Gat>Cat p.D2047H NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 2047 acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) ATAATGTGATCTACCTGAGAA 0.428000 8 64 0 0 1 0 0 ELAVL2 1993 broad.mit.edu 37 9 23692637 23692637 + Missense_Mutation SNP G G A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr9:23692637G>A ENST00000397312.2 - 7 1272 c.998C>T c.(997-999)gCg>gTg p.A333V ELAVL2_ENST00000223951.6_Missense_Mutation_p.A320V|ELAVL2_ENST00000380110.4_Missense_Mutation_p.A363V|ELAVL2_ENST00000380117.1_Missense_Mutation_p.A333V|ELAVL2_ENST00000544538.1_Missense_Mutation_p.A333V NM_004432.3 NP_004423.2 Q12926 ELAV2_HUMAN ELAV like neuron-specific RNA binding protein 2 333 RRM 3. 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) GCTAGCTATCGCCATGGCAGC 0.453000 19 44 0 0 1 0 0 LHCGR 3973 broad.mit.edu 37 2 48915596 48915596 + Missense_Mutation SNP A A G TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr2:48915596A>G ENST00000294954.7 - 11 1361 c.1340T>C c.(1339-1341)gTa>gCa p.V447A LHCGR_ENST00000344775.3_Missense_Mutation_p.V385A|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000405626.1_Missense_Mutation_p.V420A|LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000401907.1_Intron NM_000233.3 NP_000224.2 P22888 LSHR_HUMAN luteinizing hormone/choriogonadotropin receptor 447 male genitalia development|male gonad development endosome|integral to plasma membrane luteinizing hormone receptor activity NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 56 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032) ACTTGCGAATACAGTGAAAAA 0.488000 11 75 0 0 1 0 0 EYA2 2139 broad.mit.edu 37 20 45718018 45718018 + Missense_Mutation SNP G G C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr20:45718018G>C ENST00000327619.5 + 8 1176 c.802G>C c.(802-804)Gag>Cag p.E268Q EYA2_ENST00000357410.3_Missense_Mutation_p.E268Q|EYA2_ENST00000317304.6_Missense_Mutation_p.E268Q NM_005244.4 NP_005235.3 O00167 EYA2_HUMAN eyes absent homolog 2 (Drosophila) 268 DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus magnesium ion binding|protein binding|protein tyrosine phosphatase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0241) CAATGAGATTGAGGTAATCCA 0.587000 4 63 0 0 1 0 0 EBF2 64641 broad.mit.edu 37 8 25715961 25715961 + Nonsense_Mutation SNP G G A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr8:25715961G>A ENST00000520164.1 - 14 1939 c.1402C>T c.(1402-1404)Caa>Taa p.Q468* EBF2_ENST00000408929.3_Nonsense_Mutation_p.Q320*|EBF2_ENST00000535548.1_Nonsense_Mutation_p.Q199* NM_022659.3 NP_073150.2 Q9HAK2 COE2_HUMAN early B-cell factor 2 468 Pro/Ser/Thr-rich. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 39 all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845) UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738) TTAGACTGTTGAGGCGTGGAG 0.502000 7 69 0 0 1 0 0 CHRND 1144 broad.mit.edu 37 2 233393337 233393337 + Missense_Mutation SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr2:233393337C>T ENST00000457943.2 + 5 508 c.209C>T c.(208-210)tCg>tTg p.S70L CHRND_ENST00000258385.3_Silent_p.F160F|CHRND_ENST00000536614.1_Silent_p.F160F|CHRND_ENST00000543200.1_Silent_p.F145F Q07001 ACHD_HUMAN cholinergic receptor, nicotinic, delta (muscle) 0 muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity p.F160F(1) breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1) 34 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754) ATTTCCCCTTCGACTGGCAGA 0.577000 24 115 0 0 1 0 0 SGK494 0 broad.mit.edu 37 17 26939325 26939325 + Missense_Mutation SNP C C G TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr17:26939325C>G ENST00000301037.5 - 6 606 c.607G>C c.(607-609)Gag>Cag p.E203Q SPAG5-AS1_ENST00000424210.1_RNA|RP11-192H23.4_ENST00000534850.1_Intron|RP11-192H23.4_ENST00000577790.1_Intron|SPAG5-AS1_ENST00000554154.1_RNA NM_001174103.1 NP_001167574.1 ATGGAAGCCTCAGGAAAGCAG 0.498000 7 62 0 0 1 0 0 FANCM 57697 broad.mit.edu 37 14 45642401 45642401 + Missense_Mutation SNP G G A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr14:45642401G>A ENST00000267430.5 + 13 2389 c.2304G>A c.(2302-2304)atG>atA p.M768I FANCM_ENST00000542564.2_Missense_Mutation_p.M742I NM_020937.2 NP_065988.1 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 768 DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 85 TAGAGGGAATGAGACACGAAG 0.373000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 6 47 0 0 1 0 0 ZNF513 130557 broad.mit.edu 37 2 27600930 27600930 + Missense_Mutation SNP G G C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr2:27600930G>C ENST00000323703.6 - 4 1306 c.1108C>G c.(1108-1110)Cac>Gac p.H370D ZNF513_ENST00000491924.1_Intron|ZNF513_ENST00000407879.1_Missense_Mutation_p.H308D NM_144631.5 NP_653232.3 Q8N8E2 ZN513_HUMAN zinc finger protein 513 370 regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception nucleus transcription regulatory region DNA binding|zinc ion binding endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2) 17 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TTGGGATAGTGAGTGGCAAAG 0.632000 18 150 0 0 1 0 0 IFI16 3428 broad.mit.edu 37 1 158984677 158984677 + Silent SNP C C T rs144369567 byFrequency TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr1:158984677C>T ENST00000295809.7 + 2 462 c.207C>T c.(205-207)ttC>ttT p.F69F IFI16_ENST00000359709.3_Silent_p.F69F|IFI16_ENST00000368131.4_Silent_p.F69F|IFI16_ENST00000368132.3_Silent_p.F69F|IFI16_ENST00000430894.2_Silent_p.F73F|IFI16_ENST00000340979.6_Silent_p.F69F|IFI16_ENST00000448393.2_Silent_p.F69F Q16666 IF16_HUMAN interferon, gamma-inducible protein 16 69 DAPIN.|Lys-rich. cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent cytoplasm|nuclear speck|nucleolus double-stranded DNA binding|protein binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_hematologic(112;0.0429) TAAAAATTTTCGAAGATATAC 0.388000 7 93 0 0 1 0 0 HSP90AB2P 0 broad.mit.edu 37 4 13339176 13339176 + RNA SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr4:13339176C>T ENST00000602906.1 + 0 862 kidney(3)|lung(1) 4 CTATGTCCATCGTGTGTTCAT 0.433000 4 36 0 0 1 0 0 CDC42EP2 10435 broad.mit.edu 37 11 65088726 65088726 + Silent SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr11:65088726C>T ENST00000544348.1 + 2 963 c.357C>T c.(355-357)ctC>ctT p.L119L CDC42EP2_ENST00000279249.2_Silent_p.L119L|CDC42EP2_ENST00000533419.1_Silent_p.L119L O14613 BORG1_HUMAN CDC42 effector protein (Rho GTPase binding) 2 119 actin filament organization|positive regulation of actin filament polymerization|positive regulation of pseudopodium assembly|regulation of cell shape cytoplasm|cytoskeleton|endomembrane system|plasma membrane GTP-Rho binding|Rho GTPase activator activity lung(1) 1 CCCAGGCTCTCACCCTGCCCA 0.692000 13 77 0 0 1 0 0 FAM186B 84070 broad.mit.edu 37 12 49994908 49994908 + Missense_Mutation SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr12:49994908C>T ENST00000544141.1 - 4 844 c.245G>A c.(244-246)cGc>cAc p.R82H FAM186B_ENST00000551047.1_Missense_Mutation_p.R172H|FAM186B_ENST00000257894.2_Missense_Mutation_p.R172H|PRPF40B_ENST00000508736.1_3'UTR Q8IYM0 F186B_HUMAN family with sequence similarity 186, member B 172 protein complex breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 CCAGAAGGTGCGTTTGGACAC 0.527000 4 70 0 0 1 0 0 ZMAT3 64393 broad.mit.edu 37 3 178785380 178785380 + Missense_Mutation SNP G G A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr3:178785380G>A ENST00000311417.2 - 2 902 c.161C>T c.(160-162)tCg>tTg p.S54L ZMAT3_ENST00000432729.1_Missense_Mutation_p.S54L NM_022470.3 NP_071915.1 Q9HA38 ZMAT3_HUMAN zinc finger, matrin-type 3 54 apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport nucleolus RNA binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1) 14 all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527) CCCTCCCTTCGATAACTCTTC 0.552000 15 76 0 0 1 0 0 PRRT1 80863 broad.mit.edu 37 6 32117019 32117019 + Missense_Mutation SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr6:32117019C>T ENST00000211413.5 - 4 1025 c.901G>A c.(901-903)Gag>Aag p.E301K PRRT1_ENST00000467780.1_5'UTR|PRRT1_ENST00000375152.2_Missense_Mutation_p.E220K|PRRT1_ENST00000375150.2_Missense_Mutation_p.E220K NM_030651.3 NP_085154.3 Q99946 PRRT1_HUMAN proline-rich transmembrane protein 1 301 response to biotic stimulus integral to membrane breast(2)|endometrium(1)|kidney(1)|lung(2) 6 CAGTAGTTCTCGTGGTGCTGC 0.627000 11 30 0 0 1 0 0 CACNA1H 8912 broad.mit.edu 37 16 1261782 1261782 + Missense_Mutation SNP G G C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr16:1261782G>C ENST00000348261.5 + 24 4791 c.4543G>C c.(4543-4545)Gat>Cat p.D1515H CACNA1H_ENST00000358590.4_Missense_Mutation_p.D1515H|CACNA1H_ENST00000565831.1_Missense_Mutation_p.D1515H NM_021098.2 NP_066921.2 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, alpha 1H subunit 1515 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) CGACGGGCTGGATGCCGTGGG 0.662000 8 73 0 0 1 0 0 SYNDIG1 79953 broad.mit.edu 37 20 24523840 24523840 + Missense_Mutation SNP G G C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr20:24523840G>C ENST00000376862.3 + 2 740 c.107G>C c.(106-108)aGa>aCa p.R36T NM_024893.1 NP_079169.1 Q9H7V2 SYNG1_HUMAN synapse differentiation inducing 1 36 response to biotic stimulus early endosome membrane|integral to membrane|plasma membrane p.R36T(1) breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3) 24 GCCGAGAGCAGAGATGGTCTG 0.562000 7 76 0 0 1 0 0 TEX2 55852 broad.mit.edu 37 17 62291464 62291464 + Silent SNP G G A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr17:62291464G>A ENST00000258991.3 - 2 198 c.114C>T c.(112-114)ttC>ttT p.F38F TEX2_ENST00000583097.1_Silent_p.F38F|TEX2_ENST00000584379.1_Silent_p.F38F Q8IWB9 TEX2_HUMAN testis expressed 2 38 signal transduction|sphingolipid metabolic process integral to membrane breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(8;1.33e-10) READ - Rectum adenocarcinoma(1115;0.0689) CGGATGCCGAGAAGTGAATGG 0.562000 10 84 0 0 1 0 0 KIAA0753 9851 broad.mit.edu 37 17 6499537 6499537 + Nonsense_Mutation SNP C C A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr17:6499537C>A ENST00000361413.3 - 15 2657 c.2299G>T c.(2299-2301)Gag>Tag p.E767* KIAA0753_ENST00000575027.1_5'UTR|KIAA0753_ENST00000542606.1_Nonsense_Mutation_p.E468*|KIAA0753_ENST00000589033.1_Nonsense_Mutation_p.E223*|KIAA0753_ENST00000572370.1_Nonsense_Mutation_p.E468* NM_014804.2 NP_055619.2 Q2KHM9 K0753_HUMAN KIAA0753 767 centrosome endometrium(4)|large_intestine(11)|lung(5)|prostate(4) 24 COAD - Colon adenocarcinoma(228;0.157) TTGCTGTCCTCAACGGTGGCT 0.522000 18 135 2.35188e-11 2.56408e-11 1 1 0 SORL1 6653 broad.mit.edu 37 11 121393333 121393333 + Silent SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr11:121393333C>T ENST00000260197.7 + 10 1572 c.1443C>T c.(1441-1443)ctC>ctT p.L481L SORL1_ENST00000532451.1_3'UTR NM_003105.5 NP_003096.1 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 481 cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) CTCAGCGCCTCAGTCAGCTCC 0.547000 15 195 0 0 1 0 0 PRDM15 63977 broad.mit.edu 37 21 43298817 43298817 + Missense_Mutation SNP C C G TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr21:43298817C>G ENST00000269844.3 - 3 510 c.400G>C c.(400-402)Gaa>Caa p.E134Q PRDM15_ENST00000422911.1_Intron|PRDM15_ENST00000538201.1_Intron|PRDM15_ENST00000398548.1_Intron NM_022115.3 NP_071398.3 P57071 PRD15_HUMAN PR domain containing 15 134 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1) 43 GACTCAGCTTCTCTAAACGCG 0.642000 3 13 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100683261 100683261 + Missense_Mutation SNP A A T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr7:100683261A>T ENST00000306151.4 + 3 8628 c.8564A>T c.(8563-8565)gAa>gTa p.E2855V NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2855 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) ACAACTGCTGAAGGTATCGTC 0.512000 6 595 0 0 1 0 0 PLCB3 5331 broad.mit.edu 37 11 64033632 64033632 + Missense_Mutation SNP C C G TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr11:64033632C>G ENST00000540288.1 + 27 3327 c.3224C>G c.(3223-3225)gCa>gGa p.A1075G PLCB3_ENST00000325234.5_Missense_Mutation_p.A1008G|PLCB3_ENST00000279230.6_Missense_Mutation_p.A1075G NM_000932.2 NP_000923.1 Q01970 PLCB3_HUMAN phospholipase C, beta 3 (phosphatidylinositol-specific) 1075 intracellular signal transduction|lipid catabolic process|synaptic transmission cytosol calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1) 33 GTCCTTGATGCAAACACAACT 0.567000 10 164 0 0 1 0 0 LECT1 11061 broad.mit.edu 37 13 53282685 53282685 + Missense_Mutation SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr13:53282685C>T ENST00000448904.2 - 6 885 c.775G>A c.(775-777)Gat>Aat p.D259N LECT1_ENST00000377962.3_Missense_Mutation_p.D259N NM_001011705.1|NM_007015.2 NP_001011705.1|NP_008946.1 O75829 LECT1_HUMAN leukocyte cell derived chemotaxin 1 259 cartilage development|proteoglycan metabolic process endomembrane system|extracellular region|integral to membrane NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1) 15 Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.38e-08) TAAGGATTATCAGGATTGAAG 0.483000 4 25 0 0 1 0 0 JTB 10899 broad.mit.edu 37 1 153948312 153948312 + Missense_Mutation SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr1:153948312C>T ENST00000271843.4 - 4 709 c.274G>A c.(274-276)Gag>Aag p.E92K JTB_ENST00000356648.1_Missense_Mutation_p.E63K|JTB_ENST00000368589.1_Missense_Mutation_p.E63K NM_006694.3 NP_006685.1 O76095 JTB_HUMAN jumping translocation breakpoint 92 apoptosis|cell cycle cytokinesis|mitosis|positive regulation of protein kinase activity integral to plasma membrane|membrane fraction|microtubule organizing center|midbody|mitochondrion|spindle protein kinase binding endometrium(1)|kidney(1)|large_intestine(2)|lung(6) 10 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) CTTTTGAACTCATTTCTCTTA 0.463000 6 135 0 0 1 0 0 MED12L 116931 broad.mit.edu 37 3 151095894 151095894 + Missense_Mutation SNP G G C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr3:151095894G>C ENST00000474524.1 + 29 4344 c.4306G>C c.(4306-4308)Gag>Cag p.E1436Q MED12L_ENST00000273432.4_Missense_Mutation_p.E1296Q|P2RY12_ENST00000302632.3_Intron NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 1436 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CGCTGGGGAAGAGCTGGAGAA 0.537000 6 58 0 0 1 0 0 TSPAN10 83882 broad.mit.edu 37 17 79615062 79615062 + RNA SNP C C A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr17:79615062C>A ENST00000328585.4 + 0 896 TSPAN10_ENST00000572675.1_RNA NM_031945.3 NP_114151.3 Q9H1Z9 TSN10_HUMAN tetraspanin 10 integral to membrane ovary(1) 1 all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) GATGCGGACGCAGCTCAGAGA 0.711000 4 16 0.150653 0.151001 1 1 0 ESRRB 2103 broad.mit.edu 37 14 76928925 76928925 + Silent SNP C C T rs1064439 TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr14:76928925C>T ENST00000380887.2 + 3 507 c.435C>T c.(433-435)tgC>tgT p.C145C ESRRB_ENST00000507951.1_3'UTR|ESRRB_ENST00000556177.1_Silent_p.C145C|ESRRB_ENST00000261532.7_Silent_p.C145C|ESRRB_ENST00000509242.1_Silent_p.C145C A2VDJ2 A2VDJ2_HUMAN estrogen-related receptor beta 145 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 24 BRCA - Breast invasive adenocarcinoma(234;0.0213) CCAACGAGTGCGAGATCACCA 0.632000 22 51 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10363565 10363565 + Silent SNP G G C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr17:10363565G>C ENST00000255381.2 - 13 1331 c.1221C>G c.(1219-1221)gtC>gtG p.V407V CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 407 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.V407V(1) NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 TGCCGACCTTGACTCTGGGAT 0.453000 5 80 0 0 1 0 0 MAEA 10296 broad.mit.edu 37 4 1332269 1332269 + Missense_Mutation SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr4:1332269C>T ENST00000303400.4 + 8 1022 c.959C>T c.(958-960)tCc>tTc p.S320F MAEA_ENST00000512289.1_3'UTR|MAEA_ENST00000264750.6_Missense_Mutation_p.S279F|MAEA_ENST00000452175.2_Missense_Mutation_p.S241F|MAEA_ENST00000514708.1_Missense_Mutation_p.S252F|MAEA_ENST00000510794.1_Missense_Mutation_p.S319F|MAEA_ENST00000505839.1_Missense_Mutation_p.S272F|MAEA_ENST00000505177.2_Missense_Mutation_p.S358F NM_001017405.1 NP_001017405.1 Q7L5Y9 MAEA_HUMAN macrophage erythroblast attacher 320 cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle actin binding NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(23;0.0201) TGCAGCCGCTCCCTGAACAAG 0.632000 9 43 0 0 1 0 0 TROVE2 6738 broad.mit.edu 37 1 193045690 193045690 + Missense_Mutation SNP G G C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr1:193045690G>C ENST00000432079.1 + 3 604 c.36G>C c.(34-36)aaG>aaC p.K12N TROVE2_ENST00000367444.3_Missense_Mutation_p.K287N|TROVE2_ENST00000460715.2_3'UTR|TROVE2_ENST00000367446.3_Missense_Mutation_p.K287N|TROVE2_ENST00000367441.1_Missense_Mutation_p.K287N|TROVE2_ENST00000367445.3_Missense_Mutation_p.K287N|TROVE2_ENST00000416058.2_Missense_Mutation_p.K12N|TROVE2_ENST00000367443.1_Missense_Mutation_p.K287N|TROVE2_ENST00000400968.2_Missense_Mutation_p.K287N P10155 RO60_HUMAN TROVE domain family, member 2 287 transcription from RNA polymerase III promoter cytoplasm|nucleus|ribonucleoprotein complex protein binding|RNA binding biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1) 21 ATCTAGGAAAGATGACTGCTA 0.338000 8 67 0 0 1 0 0 GNB5 0 broad.mit.edu 37 15 52416726 52416726 + Nonsense_Mutation SNP G G A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr15:52416726G>A ENST00000261837.7 - 12 1185 c.1120C>T c.(1120-1122)Cga>Tga p.R374* GNB5_ENST00000559348.1_5'UTR|GNB5_ENST00000358784.7_Nonsense_Mutation_p.R332*|GNB5_ENST00000396335.4_Nonsense_Mutation_p.R262* NM_016194.3 NP_057278.2 O14775 GBB5_HUMAN guanine nucleotide binding protein (G protein), beta 5 374 heterotrimeric G-protein complex GTPase activity|signal transducer activity large_intestine(1)|lung(1) 2 all cancers(107;0.0163) GGGGAAACTCGTAGAGTGCTA 0.488000 7 121 0 0 1 0 0 VPS13B 157680 broad.mit.edu 37 8 100205244 100205244 + Missense_Mutation SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr8:100205244C>T ENST00000395996.1 + 17 2585 c.2474C>T c.(2473-2475)gCa>gTa p.A825V VPS13B_ENST00000521932.1_3'UTR|VPS13B_ENST00000358544.2_Missense_Mutation_p.A825V|VPS13B_ENST00000357162.2_Missense_Mutation_p.A825V|VPS13B_ENST00000355155.1_Missense_Mutation_p.A825V Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 825 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) AGCTCTTCCGCAGTGATTGAA 0.358000 4 38 0 0 1 0 0 FAM92A1 137392 broad.mit.edu 37 8 94740446 94740446 + Missense_Mutation SNP G G A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr8:94740446G>A ENST00000518322.1 + 9 932 c.791G>A c.(790-792)cGa>cAa p.R264Q FAM92A1_ENST00000520363.1_3'UTR|FAM92A1_ENST00000517718.1_Missense_Mutation_p.R109Q|FAM92A1_ENST00000423990.2_Missense_Mutation_p.R226Q NM_145269.3 NP_660312.2 A1XBS5 F92A1_HUMAN family with sequence similarity 92, member A1 264 NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1) 7 Breast(36;2.4e-06) BRCA - Breast invasive adenocarcinoma(8;0.0168) TCCACTTGTCGACTAAGAAAG 0.279000 6 37 0 0 1 0 0 ANKLE2 23141 broad.mit.edu 37 12 133331678 133331678 + Missense_Mutation SNP G G C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr12:133331678G>C ENST00000539605.1 - 1 6721 c.37C>G c.(37-39)Ctg>Gtg p.L13V ANKLE2_ENST00000337516.5_Missense_Mutation_p.L75V|ANKLE2_ENST00000357997.5_Missense_Mutation_p.L75V Q86XL3 ANKL2_HUMAN ankyrin repeat and LEM domain containing 2 75 cytoplasm|integral to membrane|nuclear envelope NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2) 45 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06) TCTGGATTCAGAAGTTTCAAT 0.403000 10 97 0 0 1 0 0 MAP3K15 389840 broad.mit.edu 37 X 19507020 19507020 + Nonsense_Mutation SNP G G A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chrX:19507020G>A ENST00000338883.4 - 2 426 c.427C>T c.(427-429)Cga>Tga p.R143* NM_001001671.3 NP_001001671.3 Q6ZN16 M3K15_HUMAN mitogen-activated protein kinase kinase kinase 15 143 ATP binding|MAP kinase kinase kinase activity|metal ion binding NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 Hepatocellular(33;0.183) AAGCTTTCTCGGACTCCAAGA 0.488000 24 84 0 0 1 0 0 MRPS7 51081 broad.mit.edu 37 17 73259478 73259478 + Missense_Mutation SNP G G A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr17:73259478G>A ENST00000579761.1 + 4 624 c.397G>A c.(397-399)Gaa>Aaa p.E133K MRPS7_ENST00000579002.1_Missense_Mutation_p.E162K|MRPS7_ENST00000245539.6_Missense_Mutation_p.E133K Q9Y2R9 RT07_HUMAN mitochondrial ribosomal protein S7 133 translation cytosolic small ribosomal subunit|mitochondrion protein binding|RNA binding|structural constituent of ribosome breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2) 6 all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07) all cancers(21;3.02e-07)|Epithelial(20;2.92e-06) TTCTGCAGAGGAACAGGCAAC 0.522000 48 425 0 0 1 0 0 NBPF20 100288142 broad.mit.edu 37 1 148344650 148344650 + Missense_Mutation SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr1:148344650C>T ENST00000369202.1 - 3 465 c.268G>A c.(268-270)Gag>Aag p.E90K NBPF20_ENST00000414710.2_Missense_Mutation_p.E90K neuroblastoma breakpoint family, member 20 breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1) 27 CTGAGCTCCTCAGCTTGCTTG 0.517000 9 397 0 0 1 0 0 SPSB2 84727 broad.mit.edu 37 12 6981730 6981730 + Silent SNP G G T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr12:6981730G>T ENST00000519357.1 - 2 522 c.336C>A c.(334-336)ctC>ctA p.L112L SPSB2_ENST00000523102.1_Silent_p.L112L|SPSB2_ENST00000524270.1_Silent_p.L112L Q99619 SPSB2_HUMAN splA/ryanodine receptor domain and SOCS box containing 2 112 B30.2/SPRY. intracellular signal transduction cytoplasm protein binding kidney(2)|lung(2)|upper_aerodigestive_tract(1) 5 GCAGCGGGGCGAGGGCCGTGG 0.687000 OREG0021639 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 82 5.4927e-09 5.9436e-09 1 1 0 PRKAR1A 5573 broad.mit.edu 37 17 66526119 66526119 + Missense_Mutation SNP G G T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr17:66526119G>T ENST00000589228.1 + 10 1078 c.950G>T c.(949-951)aGa>aTa p.R317I PRKAR1A_ENST00000586397.1_Missense_Mutation_p.R317I|PRKAR1A_ENST00000536854.2_Missense_Mutation_p.R317I|PRKAR1A_ENST00000392711.1_Missense_Mutation_p.R317I|PRKAR1A_ENST00000358598.2_Missense_Mutation_p.R317I|PRKAR1A_ENST00000588188.2_Missense_Mutation_p.R317I NM_001276289.1|NM_001278433.1 NP_001263218.1|NP_001265362.1 P10644 KAP0_HUMAN protein kinase, cAMP-dependent, regulatory, type I, alpha 317 activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport cAMP-dependent protein kinase complex|cytosol cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1) 31 Breast(10;1.64e-13) GAAGTGGGAAGATTGGGGCCT 0.383000 """T, Mis, N, F, S""" RET papillary thyroid """myxoma, endocrine, papillary thyroid""" Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of 11 88 2.27111e-07 2.4214e-07 1 1 0 SOAT1 6646 broad.mit.edu 37 1 179320591 179320591 + Silent SNP G G A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr1:179320591G>A ENST00000367619.3 + 15 1733 c.1590G>A c.(1588-1590)ctG>ctA p.L530L SOAT1_ENST00000539888.1_Silent_p.L465L|SOAT1_ENST00000540564.1_Silent_p.L472L|SOAT1_ENST00000535686.1_Silent_p.L266L NM_003101.5 NP_003092.4 P35610 SOAT1_HUMAN sterol O-acyltransferase 1 530 cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly endoplasmic reticulum membrane|integral to membrane|microsome cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1) 20 Ezetimibe(DB00973)|Hesperetin(DB01094) ACTGTCCTCTGAAAAATGTGA 0.438000 13 126 0 0 1 0 0 SEMA6D 80031 broad.mit.edu 37 15 48058076 48058076 + Missense_Mutation SNP G G A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr15:48058076G>A ENST00000316364.5 + 14 1877 c.1438G>A c.(1438-1440)Gag>Aag p.E480K SEMA6D_ENST00000355997.3_Missense_Mutation_p.E480K|SEMA6D_ENST00000358066.4_Missense_Mutation_p.E480K|SEMA6D_ENST00000389432.2_Missense_Mutation_p.E480K|SEMA6D_ENST00000389428.3_Missense_Mutation_p.E480K|SEMA6D_ENST00000537942.1_Missense_Mutation_p.E480K|SEMA6D_ENST00000558816.1_Missense_Mutation_p.E480K|SEMA6D_ENST00000536845.2_Missense_Mutation_p.E480K|SEMA6D_ENST00000389433.2_Missense_Mutation_p.E480K|SEMA6D_ENST00000558014.1_Missense_Mutation_p.E480K|SEMA6D_ENST00000354744.4_Missense_Mutation_p.E480K NM_153618.1 NP_705871.1 Q8NFY4 SEM6D_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D 480 Sema. axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 77 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) GTGCAGTGCTGAGAATGAGGA 0.423000 13 81 0 0 1 0 0 P2RX7 5027 broad.mit.edu 37 12 121570869 121570869 + Silent SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr12:121570869C>T ENST00000546057.1 + 1 239 c.96C>T c.(94-96)ttC>ttT p.F32F P2RX7_ENST00000377162.2_Silent_p.F32F|P2RX7_ENST00000328963.5_5'UTR|P2RX7_ENST00000443520.3_3'UTR|P2RX7_ENST00000535250.1_5'UTR|P2RX7_ENST00000541446.1_5'UTR NM_002562.5 NP_002553.3 A8K2Z0 A8K2Z0_HUMAN purinergic receptor P2X, ligand-gated ion channel, 7 32 integral to membrane ATP binding|ion channel activity|receptor activity NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1) 19 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) TTAAGTGGTTCTTCCACGTGA 0.527000 10 139 0 0 1 0 0 MAGEA10 4109 broad.mit.edu 37 X 151303366 151303366 + Missense_Mutation SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chrX:151303366C>T ENST00000370323.4 - 4 1043 c.727G>A c.(727-729)Gag>Aag p.E243K MAGEA10_ENST00000244096.3_Missense_Mutation_p.E243K|RP11-1007I13.4_ENST00000509345.2_RNA NM_001251828.1|NM_021048.4 NP_001238757.1|NP_066386.2 P43363 MAGAA_HUMAN melanoma antigen family A, 10 243 MAGE. endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) ATGACCTCCTCAGGGGTGCAG 0.512000 12 95 0 0 1 0 0 ZNF80 7634 broad.mit.edu 37 3 113955901 113955901 + Silent SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr3:113955901C>T ENST00000482457.2 - 1 524 c.21G>A c.(19-21)ggG>ggA p.G7G NM_007136.3 NP_009067.2 P51504 ZNF80_HUMAN zinc finger protein 80 7 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2) 32 Lung NSC(201;0.0233)|all_neural(597;0.0837) CTGTCCCCAACCCATCGCGTT 0.527000 9 94 0 0 1 0 0 PBRM1 55193 broad.mit.edu 37 3 52696199 52696199 + Missense_Mutation SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr3:52696199C>T ENST00000356770.4 - 4 480 c.478G>A c.(478-480)Gaa>Aaa p.E160K PBRM1_ENST00000409767.1_Missense_Mutation_p.E160K|PBRM1_ENST00000410007.1_Missense_Mutation_p.E160K|PBRM1_ENST00000409114.3_Missense_Mutation_p.E160K|PBRM1_ENST00000409057.1_Missense_Mutation_p.E160K|PBRM1_ENST00000394830.3_Missense_Mutation_p.E160K|PBRM1_ENST00000337303.4_Missense_Mutation_p.E160K|PBRM1_ENST00000296302.7_Missense_Mutation_p.E160K Q86U86 PB1_HUMAN polybromo 1 160 E -> A (found in a malignant melanoma cell line). chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding p.E160*(3) breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1) 335 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) TCATCATCTTCGTCATCTGCT 0.453000 """Mis, N, F, S, D, O""" """clear cell renal carcinoma, breast""" 28 172 0 0 1 0 0 NFE2L2 4780 broad.mit.edu 37 2 178095660 178095660 + Silent SNP G G C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr2:178095660G>C ENST00000397062.3 - 5 2225 c.1671C>G c.(1669-1671)ctC>ctG p.L557L NFE2L2_ENST00000464747.1_Silent_p.L541L|NFE2L2_ENST00000446151.2_Silent_p.L534L|NFE2L2_ENST00000397063.4_Silent_p.L541L NM_006164.4 NP_006155.2 Q16236 NF2L2_HUMAN nuclear factor, erythroid 2-like 2 557 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 158 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) ATAAGGTGCTGAGTTGTTTTT 0.363000 Mis """NSCLC, HNSCC""" HNSCC(56;0.16) 8 93 0 0 1 0 0 TCF20 6942 broad.mit.edu 37 22 42607449 42607449 + Nonsense_Mutation SNP G G C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr22:42607449G>C ENST00000359486.3 - 1 3999 c.3863C>G c.(3862-3864)tCa>tGa p.S1288* TCF20_ENST00000335626.4_Nonsense_Mutation_p.S1288* NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 1288 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 GCCTTCTTTTGATGAGTGAAG 0.438000 16 86 0 0 1 0 0 CCDC92 80212 broad.mit.edu 37 12 124422324 124422324 + Missense_Mutation SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr12:124422324C>T ENST00000545135.1 - 3 3522 c.226G>A c.(226-228)Gcc>Acc p.A76T CCDC92_ENST00000544798.1_Intron|CCDC92_ENST00000545891.1_Missense_Mutation_p.A76T|CCDC92_ENST00000238156.3_Missense_Mutation_p.A93T Q53HC0 CCD92_HUMAN coiled-coil domain containing 92 93 large_intestine(5)|lung(2) 7 all_neural(191;0.101)|Medulloblastoma(191;0.163) Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242) TTCAGTTGGGCTTCCAGCTCT 0.443000 10 156 0 0 1 0 0 SLITRK5 26050 broad.mit.edu 37 13 88328522 88328522 + Missense_Mutation SNP G G C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr13:88328522G>C ENST00000325089.6 + 2 1098 c.879G>C c.(877-879)gaG>gaC p.E293D SLITRK5_ENST00000400028.3_Missense_Mutation_p.E52D NM_015567.1 NP_056382.1 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 293 integral to membrane breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4) 81 all_neural(89;0.101)|Medulloblastoma(90;0.163) CTGACTACGAGATGAGGCCGC 0.537000 15 95 0 0 1 0 0 TMEM123 114908 broad.mit.edu 37 11 102272784 102272784 + Nonsense_Mutation SNP G G T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr11:102272784G>T ENST00000398136.2 - 3 731 c.311C>A c.(310-312)tCa>tAa p.S104* TMEM123_ENST00000532161.1_Nonsense_Mutation_p.S16*|TMEM123_ENST00000525577.1_5'UTR|TMEM123_ENST00000361236.3_Nonsense_Mutation_p.S85* NM_052932.2 NP_443164.2 Q8N131 PORIM_HUMAN transmembrane protein 123 104 Thr-rich. oncosis external side of plasma membrane|integral to membrane receptor activity breast(3)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1) 9 all_cancers(8;0.00027)|all_epithelial(12;0.0021)|Lung NSC(15;0.227) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033) Epithelial(9;0.0314)|Lung(13;0.109)|all cancers(10;0.12)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0149) CATATTTGTTGAGACCATCCC 0.438000 19 180 2.94398e-08 3.16206e-08 1 1 0 ESRP1 54845 broad.mit.edu 37 8 95676969 95676969 + Missense_Mutation SNP G G A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr8:95676969G>A ENST00000433389.2 + 7 879 c.689G>A c.(688-690)cGa>cAa p.R230Q ESRP1_ENST00000358397.5_Missense_Mutation_p.R230Q|ESRP1_ENST00000454170.2_Missense_Mutation_p.R230Q|ESRP1_ENST00000423620.2_Missense_Mutation_p.R230Q NM_001034915.2|NM_017697.3 NP_001030087.2|NP_060167.2 Q6NXG1 ESRP1_HUMAN epithelial splicing regulatory protein 1 230 RRM 1. mRNA processing|regulation of RNA splicing|RNA splicing nucleus|plasma membrane mRNA binding|nucleotide binding ESRP1/RAF1(4) NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2) 20 GTCAGGGCACGAGGTTTACCA 0.383000 8 50 0 0 1 0 0 YARS 8565 broad.mit.edu 37 1 33245077 33245077 + Missense_Mutation SNP G G C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr1:33245077G>C ENST00000373477.4 - 12 2290 c.1382C>G c.(1381-1383)tCt>tGt p.S461C YARS_ENST00000469100.1_5'UTR NM_003680.3 NP_003671.1 P54577 SYYC_HUMAN tyrosyl-tRNA synthetase 461 tRNA-binding. apoptosis|tyrosyl-tRNA aminoacylation cytosol|extracellular space|nucleus|soluble fraction ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1) 15 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) L-Tyrosine(DB00135) ACCAGGAGCAGAGCCTGCCGG 0.527000 8 66 0 0 1 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5306709 5306709 + Silent SNP G G A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr5:5306709G>A ENST00000274181.7 + 21 3417 c.3279G>A c.(3277-3279)aaG>aaA p.K1093K NM_139056.2 NP_620687.2 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 16 1093 TSP type-1 5. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 TGGCCTCAAAGAAGTGCTCAC 0.522000 8 52 0 0 1 0 0 UBA2 10054 broad.mit.edu 37 19 34960012 34960012 + Silent SNP C C A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr19:34960012C>A ENST00000439527.2 + 17 2019 c.1521C>A c.(1519-1521)gtC>gtA p.V507V UBA2_ENST00000246548.4_Silent_p.V603V|UBA2_ENST00000588585.1_3'UTR|UBA2_ENST00000592791.1_Silent_p.V129V Q9UBT2 SAE2_HUMAN ubiquitin-like modifier activating enzyme 2 603 protein sumoylation nucleus ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 20 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.211) ATGCCGACGTCAGTGAAGAAG 0.393000 4 35 1 1 1 1 0 KIAA1161 57462 broad.mit.edu 37 9 34372195 34372195 + Missense_Mutation SNP C C G TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr9:34372195C>G ENST00000297625.7 - 2 870 c.645G>C c.(643-645)tgG>tgC p.W215C NM_020702.3 NP_065753.2 Q6NSJ0 K1161_HUMAN KIAA1161 249 carbohydrate metabolic process integral to membrane hydrolase activity, hydrolyzing O-glycosyl compounds breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1) 12 LUSC - Lung squamous cell carcinoma(29;0.0107) GBM - Glioblastoma multiforme(74;0.126) CCGTGCTGTTCCAGCCCAGGT 0.687000 6 17 0 0 1 0 0 DUOX1 53905 broad.mit.edu 37 15 45455856 45455856 + Missense_Mutation SNP G G A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr15:45455856G>A ENST00000321429.4 + 33 4782 c.4375G>A c.(4375-4377)Gag>Aag p.E1459K CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000561166.1_Missense_Mutation_p.E1105K|DUOX1_ENST00000389037.3_Missense_Mutation_p.E1459K NM_017434.3 NP_059130.2 Q9NRD9 DUOX1_HUMAN dual oxidase 1 1459 cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1) 57 all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717) CCAGCTGGCTGAGAAGTTCGA 0.577000 OREG0023103 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 149 0 0 1 0 0 STK10 6793 broad.mit.edu 37 5 171533727 171533727 + Missense_Mutation SNP C C G TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr5:171533727C>G ENST00000176763.5 - 6 1028 c.685G>C c.(685-687)Gag>Cag p.E229Q NM_005990.3 NP_005981.3 O94804 STK10_HUMAN serine/threonine kinase 10 229 Protein kinase. ATP binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 47 Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094) Medulloblastoma(196;0.00868)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TGGGCCATCTCAATCAGCGTG 0.597000 OREG0017039 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 63 0 0 1 0 0 HHIP 64399 broad.mit.edu 37 4 145567979 145567979 + Missense_Mutation SNP G G C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr4:145567979G>C ENST00000296575.3 + 1 807 c.152G>C c.(151-153)aGa>aCa p.R51T HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000434550.2_Missense_Mutation_p.R51T NM_022475.2 NP_071920.1 Q96QV1 HHIP_HUMAN hedgehog interacting protein 51 Arg-rich. cytoplasm|extracellular region catalytic activity|protein binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0185) CTGAAAAGGAGAGACAGGAGG 0.582000 6 43 0 0 1 0 0 OR4K5 79317 broad.mit.edu 37 14 20389101 20389101 + Missense_Mutation SNP G G T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr14:20389101G>T ENST00000315915.4 + 1 361 c.336G>T c.(334-336)atG>atT p.M112I NM_001005483.1 NP_001005483.1 Q8NGD3 OR4K5_HUMAN olfactory receptor, family 4, subfamily K, member 5 112 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GAGGGGAGATGGTGCTACTTG 0.428000 11 252 7.03913e-09 7.57926e-09 1 1 0 ORC3 23595 broad.mit.edu 37 6 88317395 88317395 + Missense_Mutation SNP G G C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr6:88317395G>C ENST00000392844.3 + 6 480 c.432G>C c.(430-432)atG>atC p.M144I ORC3_ENST00000478028.1_3'UTR|ORC3_ENST00000417380.2_Missense_Mutation_p.M91I|ORC3_ENST00000257789.4_Missense_Mutation_p.M144I|ORC3_ENST00000546266.1_Start_Codon_SNP_p.M1I NM_012381.3|NM_181837.2 NP_036513.2|NP_862820.1 Q9UBD5 ORC3_HUMAN origin recognition complex, subunit 3 144 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle nuclear origin of replication recognition complex|nucleoplasm DNA replication origin binding|protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 28 CCACAGATATGAAACATTTTT 0.338000 4 31 0 0 1 0 0 SORCS1 114815 broad.mit.edu 37 10 108412181 108412181 + Nonsense_Mutation SNP C C A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr10:108412181C>A ENST00000263054.6 - 18 2441 c.2434G>T c.(2434-2436)Gaa>Taa p.E812* SORCS1_ENST00000369698.1_Nonsense_Mutation_p.E347*|SORCS1_ENST00000344440.6_Nonsense_Mutation_p.E812* NM_001206570.1|NM_052918.4 NP_001193499.1|NP_443150.3 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 812 PKD. integral to membrane neuropeptide receptor activity|protein binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) TGTCCTTGTTCCGCTGTCAGC 0.522000 10 58 4.68919e-08 5.02413e-08 1 1 0 ABCA12 26154 broad.mit.edu 37 2 215852431 215852431 + Missense_Mutation SNP C C G TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr2:215852431C>G ENST00000272895.7 - 27 4135 c.3916G>C c.(3916-3918)Gag>Cag p.E1306Q ABCA12_ENST00000389661.4_Missense_Mutation_p.E988Q NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 1306 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) TTGCTCTTCTCAGGCTTCACC 0.458000 9 27 0 0 1 0 0 XXbac-BPG308J9.3 0 broad.mit.edu 37 6 29231625 29231625 + RNA SNP G G C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr6:29231625G>C ENST00000441381.1 + 0 96 ACCAACATCTGTGGGACTATA 0.403000 37 178 0 0 1 0 0 GABRA4 2557 broad.mit.edu 37 4 46930400 46930400 + Missense_Mutation SNP G G C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr4:46930400G>C ENST00000264318.3 - 9 2489 c.1507C>G c.(1507-1509)Cct>Gct p.P503A NM_000809.3|NM_001204266.1|NM_001204267.1 NP_000800.2|NP_001191195.1|NP_001191196.1 P48169 GBRA4_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 4 503 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GATGGAGGAGGAGTAGCTGAC 0.463000 8 114 0 0 1 0 0 VSX2 338917 broad.mit.edu 37 14 74707950 74707950 + Missense_Mutation SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr14:74707950C>T ENST00000261980.2 + 2 526 c.436C>T c.(436-438)Cgg>Tgg p.R146W NM_182894.2 NP_878314.1 P58304 VSX2_HUMAN visual system homeobox 2 146 multicellular organismal development|response to stimulus|visual perception nucleolus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 7 BRCA - Breast invasive adenocarcinoma(234;0.00154) GACCAAGAAACGGAAGAAGCG 0.587000 7 50 0 0 1 0 0 RNF43 54894 broad.mit.edu 37 17 56492817 56492817 + Missense_Mutation SNP G G A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr17:56492817G>A ENST00000584437.1 - 1 2077 c.122C>T c.(121-123)tCa>tTa p.S41L BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000583753.1_Missense_Mutation_p.S41L|RNF43_ENST00000581868.1_Intron|RNF43_ENST00000577716.1_Missense_Mutation_p.S41L|RNF43_ENST00000500597.2_Missense_Mutation_p.S41L|RNF43_ENST00000407977.2_Missense_Mutation_p.S41L Q68DV7 RNF43_HUMAN ring finger protein 43 41 endoplasmic reticulum membrane|integral to membrane|nuclear envelope ligase activity|protein binding|zinc ion binding p.S41*(1) NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4) 60 Medulloblastoma(34;0.127)|all_neural(34;0.237) CTGTTCTGCTGATCTTTCAGA 0.537000 6 75 0 0 1 0 0 CRY1 1407 broad.mit.edu 37 12 107398927 107398927 + Missense_Mutation SNP C C G TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr12:107398927C>G ENST00000008527.5 - 3 1234 c.367G>C c.(367-369)Gaa>Caa p.E123Q NM_004075.3 NP_004066.1 Q16526 CRY1_HUMAN cryptochrome 1 (photolyase-like) 123 DNA photolyase. DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1) 29 ACAATGACTTCTACTCCAGCT 0.348000 8 61 0 0 1 0 0 TMUB2 79089 broad.mit.edu 37 17 42266526 42266526 + Missense_Mutation SNP G G A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr17:42266526G>A ENST00000319511.6 + 2 762 c.112G>A c.(112-114)Gta>Ata p.V38I TMUB2_ENST00000587989.1_Missense_Mutation_p.V58I|TMUB2_ENST00000357984.3_Missense_Mutation_p.V38I|TMUB2_ENST00000592825.1_Missense_Mutation_p.V38I|TMUB2_ENST00000446571.3_Missense_Mutation_p.V38I|TMUB2_ENST00000590235.1_Missense_Mutation_p.V38I|TMUB2_ENST00000589785.1_Missense_Mutation_p.V38I|TMUB2_ENST00000589856.1_Missense_Mutation_p.V38I|TMUB2_ENST00000538716.2_Missense_Mutation_p.V58I|TMUB2_ENST00000589184.1_Intron|TMUB2_ENST00000587172.1_Missense_Mutation_p.V38I NM_177441.2 NP_803190.2 Q71RG4 TMUB2_HUMAN transmembrane and ubiquitin-like domain containing 2 58 integral to membrane endometrium(2)|kidney(2)|large_intestine(1)|lung(3) 8 Breast(137;0.00765)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.113) CTCTACCTACGTAGCAGACAG 0.587000 16 133 0 0 1 0 0 C19orf26 255057 broad.mit.edu 37 19 1234625 1234625 + Nonsense_Mutation SNP G G C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr19:1234625G>C ENST00000590083.1 - 6 864 c.572C>G c.(571-573)tCa>tGa p.S191* C19orf26_ENST00000215376.6_Nonsense_Mutation_p.S185*|C19orf26_ENST00000382477.2_Nonsense_Mutation_p.S211* Q8N350 DOS_HUMAN chromosome 19 open reading frame 26 211 integral to membrane central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4) 9 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CGTGGTGGCTGAGCTGGCCTC 0.672000 HNSCC(14;0.022) 8 11 0 0 1 0 0 FAM90A1 55138 broad.mit.edu 37 12 8375292 8375292 + Missense_Mutation SNP G G C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr12:8375292G>C ENST00000538603.1 - 7 1079 c.521C>G c.(520-522)tCt>tGt p.S174C FAM90A1_ENST00000307435.6_Missense_Mutation_p.S174C NM_018088.3 NP_060558.3 Q86YD7 F90A1_HUMAN family with sequence similarity 90, member A1 174 nucleic acid binding|zinc ion binding endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 25 Kidney(36;0.0866) GCCCCTGTCAGACATTTCGGT 0.572000 5 95 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 140990855 140990855 + Missense_Mutation SNP A A G TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr2:140990855A>G ENST00000389484.3 - 91 14671 c.13700T>C c.(13699-13701)aTg>aCg p.M4567T NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 4567 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TTGCCCATCCATATATAATTT 0.323000 TSP Lung(27;0.18) 4 26 0 0 1 0 0 RTP2 344892 broad.mit.edu 37 3 187416648 187416648 + Missense_Mutation SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr3:187416648C>T ENST00000358241.1 - 2 744 c.316G>A c.(316-318)Gag>Aag p.E106K NM_001004312.2 NP_001004312.2 Q5QGT7 RTP2_HUMAN receptor (chemosensory) transporter protein 2 106 protein insertion into membrane cell surface|integral to membrane|plasma membrane olfactory receptor binding large_intestine(3)|lung(14)|skin(1) 18 all_cancers(143;4.06e-12)|Ovarian(172;0.0418) OV - Ovarian serous cystadenocarcinoma(80;1.76e-18) GBM - Glioblastoma multiforme(93;0.0515) ATGCTGGACTCGTCCAGCCGC 0.652000 3 29 0 0 1 0 0 PRPF8 10594 broad.mit.edu 37 17 1563262 1563262 + Missense_Mutation SNP C C G TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr17:1563262C>G ENST00000572621.1 - 30 5084 c.4819G>C c.(4819-4821)Gag>Cag p.E1607Q PRPF8_ENST00000304992.6_Missense_Mutation_p.E1607Q Q6P2Q9 PRP8_HUMAN pre-mRNA processing factor 8 1607 catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 77 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) TGTACTGTCTCAATTTCCAGT 0.403000 6 73 0 0 1 0 0 C2CD3 26005 broad.mit.edu 37 11 73850728 73850728 + Nonsense_Mutation SNP G G C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr11:73850728G>C ENST00000334126.7 - 4 855 c.629C>G c.(628-630)tCa>tGa p.S210* C2CD3_ENST00000313663.7_Nonsense_Mutation_p.S210*|C2CD3_ENST00000539061.1_Nonsense_Mutation_p.S210* Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 210 centrosome NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3) 64 Breast(11;4.16e-06) GCGAGGCCTTGATGGAACCTG 0.438000 25 170 0 0 1 0 0 HIST1H2AK 8330 broad.mit.edu 37 6 27805761 27805761 + Silent SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr6:27805761C>T ENST00000330180.2 - 1 356 c.357G>A c.(355-357)aaG>aaA p.K119K NM_003510.2 NP_003501.1 P0C0S8 H2A1_HUMAN histone cluster 1, H2ak 119 nucleosome assembly nucleosome|nucleus DNA binding|enzyme binding breast(2)|endometrium(2)|kidney(1)|lung(3)|upper_aerodigestive_tract(2) 10 TCTCAGTTTTCTTAGGCAGCA 0.552000 10 156 0 0 1 0 0 STAMBPL1 57559 broad.mit.edu 37 10 90665330 90665330 + Missense_Mutation SNP C C G TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr10:90665330C>G ENST00000371927.3 + 3 1119 c.161C>G c.(160-162)tCt>tGt p.S54C STAMBPL1_ENST00000371924.1_Missense_Mutation_p.S54C|STAMBPL1_ENST00000371926.3_Missense_Mutation_p.S54C Q96FJ0 STALP_HUMAN STAM binding protein-like 1 54 metal ion binding|metallopeptidase activity|protein binding breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1) 11 Colorectal(252;0.0381) Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05) TACTTTAGGTCTGGAGTAGAG 0.408000 14 53 0 0 1 0 0 RNF128 79589 broad.mit.edu 37 X 106034391 106034391 + Silent SNP G G A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chrX:106034391G>A ENST00000255499.2 + 6 1330 c.1080G>A c.(1078-1080)gaG>gaA p.E360E RNF128_ENST00000324342.3_Silent_p.E334E NM_194463.1 NP_919445.1 Q8TEB7 RN128_HUMAN ring finger protein 128, E3 ubiquitin protein ligase 360 endomembrane system|integral to membrane|perinuclear region of cytoplasm zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1) 11 ATCGCAGCGAGACCGCATCAT 0.448000 14 189 0 0 1 0 0 EEF1A1 1915 broad.mit.edu 37 6 74229640 74229640 + Missense_Mutation SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr6:74229640C>T ENST00000316292.9 - 1 1101 c.110G>A c.(109-111)aGa>aAa p.R37K EEF1A1_ENST00000331523.2_Missense_Mutation_p.R37K|EEF1A1_ENST00000309268.6_Missense_Mutation_p.R37K NM_001402.5 NP_001393.1 P68104 EF1A1_HUMAN eukaryotic translation elongation factor 1 alpha 1 37 cytosol|eukaryotic translation elongation factor 1 complex GTP binding|GTPase activity|protein binding|translation elongation factor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3) 18 TTCAATGGTTCTTTTGTCGAT 0.408000 5 60 0 0 1 0 0 PCSK7 9159 broad.mit.edu 37 11 117090319 117090319 + Silent SNP G G A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr11:117090319G>A ENST00000320934.3 - 10 1941 c.1311C>T c.(1309-1311)ttC>ttT p.F437F PCSK7_ENST00000540028.1_Silent_p.F78F NM_004716.2 NP_004707.2 Q16549 PCSK7_HUMAN proprotein convertase subtilisin/kexin type 7 437 Catalytic. peptide hormone processing integral to Golgi membrane serine-type endopeptidase activity NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1) 16 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537) GGGTGGCTGTGAAGACAATGA 0.592000 T IGH@ MLCLS 6 56 0 0 1 0 0 GUCD1 83606 broad.mit.edu 37 22 24944010 24944010 + Missense_Mutation SNP C C G TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr22:24944010C>G ENST00000435822.1 - 3 484 c.160G>C c.(160-162)Gag>Cag p.E54Q GUCD1_ENST00000407471.3_Missense_Mutation_p.E54Q|GUCD1_ENST00000402766.1_Missense_Mutation_p.E54Q|GUCD1_ENST00000404664.3_Missense_Mutation_p.E110Q|GUCD1_ENST00000447813.2_Missense_Mutation_p.E54Q NM_031444.2 NP_113632.2 guanylyl cyclase domain containing 1 AGGGCTCTCTCAAACTCACTG 0.602000 5 58 0 0 1 0 0 NOA1 84273 broad.mit.edu 37 4 57843128 57843128 + Silent SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr4:57843128C>T ENST00000264230.4 - 1 1861 c.624G>A c.(622-624)gcG>gcA p.A208A NM_032313.2 NP_115689.1 Q8NC60 CD014_HUMAN nitric oxide associated 1 208 GTP binding GCCGCCGCAACGCGGCGCTCA 0.731000 5 38 0 0 1 0 0 MYH9 4627 broad.mit.edu 37 22 36697661 36697661 + Missense_Mutation SNP C C A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr22:36697661C>A ENST00000216181.5 - 21 2780 c.2550G>T c.(2548-2550)aaG>aaT p.K850N NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 850 actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 GCTCCTCCTCCTTGGCCATCA 0.617000 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated OREG0026520 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 47 0.00136819 0.00140701 1 1 0 F8 2157 broad.mit.edu 37 X 154197759 154197759 + Missense_Mutation SNP G G A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chrX:154197759G>A ENST00000360256.4 - 7 1056 c.856C>T c.(856-858)Cac>Tac p.H286Y NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 286 F5/8 type A 1.|Plastocyanin-like 2. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) AATATTGAGTGCACTTCAGGA 0.453000 29 97 0 0 1 0 0 NOLC1 9221 broad.mit.edu 37 10 103921999 103921999 + Silent SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr10:103921999C>T ENST00000405356.1 + 13 2338 c.2103C>T c.(2101-2103)gtC>gtT p.V701V NOLC1_ENST00000488254.2_Silent_p.V692V|NOLC1_ENST00000605788.1_Silent_p.V691V|NOLC1_ENST00000477977.1_Intron|NOLC1_ENST00000603742.1_Silent_p.V410V Q14978 NOLC1_HUMAN nucleolar and coiled-body phosphoprotein 1 691 mitosis|rRNA processing cytoplasm|nucleolus ATP binding|GTP binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 31 Colorectal(252;0.122) Epithelial(162;5.19e-08)|all cancers(201;9.43e-07) CTGTCCAGGTCAATTCTATTA 0.507000 32 208 0 0 1 0 0 ATXN2 6311 broad.mit.edu 37 12 111963105 111963105 + Missense_Mutation SNP G G C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr12:111963105G>C ENST00000377617.3 - 6 1228 c.1067C>G c.(1066-1068)tCt>tGt p.S356C ATXN2_ENST00000550104.1_Missense_Mutation_p.S356C|ATXN2_ENST00000542287.2_Missense_Mutation_p.S91C|ATXN2_ENST00000535949.1_Missense_Mutation_p.S67C|ATXN2_ENST00000549455.1_5'UTR|ATXN2_ENST00000389153.4_Missense_Mutation_p.S91C NM_002973.3 NP_002964.3 Q99700 ATX2_HUMAN ataxin 2 356 cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network protein C-terminus binding|RNA binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 37 ACTGATAGCAGAGTCAGTAAA 0.428000 7 78 0 0 1 0 0 DGKA 1606 broad.mit.edu 37 12 56347166 56347166 + Missense_Mutation SNP G G T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr12:56347166G>T ENST00000331886.5 + 23 2550 c.2096G>T c.(2095-2097)gGa>gTa p.G699V DGKA_ENST00000551156.1_Missense_Mutation_p.G699V|DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000394147.1_Missense_Mutation_p.G699V NM_001345.4 NP_001336.2 P23743 DGKA_HUMAN diacylglycerol kinase, alpha 80kDa 699 G -> V (in Ref. 1; CAA44396). activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity p.G699V(1) breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1) 25 Vitamin E(DB00163) CAAATTGACGGAGAACCCTGG 0.468000 25 372 5.61819e-17 6.18712e-17 1 1 0 KIAA1462 57608 broad.mit.edu 37 10 30317227 30317227 + Missense_Mutation SNP G G T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr10:30317227G>T ENST00000375377.1 - 3 1951 c.1850C>A c.(1849-1851)cCg>cAg p.P617Q NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 617 breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 TTGCAGAGCCGGGCTCTTATC 0.493000 26 38 3.01185e-09 3.26722e-09 1 1 0 GNG5 2787 broad.mit.edu 37 1 84967543 84967543 + Silent SNP G G C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr1:84967543G>C ENST00000370641.3 - 2 665 c.192C>G c.(190-192)gtC>gtG p.V64V GNG5_ENST00000370645.4_Silent_p.V64V|GNG5_ENST00000487806.1_5'UTR P63218 GBG5_HUMAN guanine nucleotide binding protein (G protein), gamma 5 64 cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission heterotrimeric G-protein complex GTPase activity|signal transducer activity lung(1)|skin(1) 2 all cancers(265;0.00634)|Epithelial(280;0.0175)|OV - Ovarian serous cystadenocarcinoma(397;0.159) AAAAGGAACAGACTTTCTGGG 0.388000 6 49 0 0 1 0 0 CPNE2 221184 broad.mit.edu 37 16 57180017 57180017 + Silent SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr16:57180017C>T ENST00000535318.2 + 16 1684 c.1323C>T c.(1321-1323)atC>atT p.I441I CPNE2_ENST00000565874.1_Silent_p.I441I|CPNE2_ENST00000537605.1_Silent_p.I339I|CPNE2_ENST00000565951.1_3'UTR|CPNE2_ENST00000290776.8_Silent_p.I441I Q96FN4 CPNE2_HUMAN copine II 441 VWFA. central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5) 21 all_neural(199;0.224) TCCTCCTCATCATCACGGACG 0.612000 3 15 0 0 1 0 0 UBP1 7342 broad.mit.edu 37 3 33450944 33450944 + Missense_Mutation SNP A A C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr3:33450944A>C ENST00000283629.3 - 6 1234 c.705T>G c.(703-705)ttT>ttG p.F235L UBP1_ENST00000447368.2_Missense_Mutation_p.F235L|UBP1_ENST00000283628.5_Missense_Mutation_p.F235L NM_001128161.1|NM_014517.4 NP_001121633.1|NP_055332.3 Q9NZI7 UBIP1_HUMAN upstream binding protein 1 (LBP-1a) 235 negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2) 23 GTCTTACCTTAAAAACTTTGA 0.408000 12 54 0 0 1 0 0 MYSM1 114803 broad.mit.edu 37 1 59132892 59132892 + Missense_Mutation SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr1:59132892C>T ENST00000472487.1 - 16 1888 c.1849G>A c.(1849-1851)Gca>Aca p.A617T MYSM1_ENST00000493821.1_5'UTR NM_001085487.2 NP_001078956.1 Q5VVJ2 MYSM1_HUMAN Myb-like, SWIRM and MPN domains 1 617 MPN. histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin remodeling complex DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(7;9.36e-06) GGTTCTGCTGCACAGACCTAT 0.378000 5 35 0 0 1 0 0 TRPM1 4308 broad.mit.edu 37 15 31323322 31323322 + Silent SNP G G A rs115529590 by1000genomes TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr15:31323322G>A ENST00000542188.1 - 22 3355 c.3042C>T c.(3040-3042)gtC>gtT p.V1014V TRPM1_ENST00000397795.2_Silent_p.V975V|RP11-348B17.1_ENST00000561299.1_RNA|RP11-348B17.1_ENST00000558755.1_RNA|TRPM1_ENST00000256552.6_Silent_p.V997V NM_001252020.1 NP_001238949.1 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, subfamily M, member 1 975 cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3) 99 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) TCATGAGCACGACCAGCATGA 0.512000 11 56 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7660535 7660535 + Silent SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr17:7660535C>T ENST00000572933.1 + 13 3491 c.2031C>T c.(2029-2031)ctC>ctT p.L677L DNAH2_ENST00000389173.2_Silent_p.L677L Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 677 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) ATCTGCTACTCGTTGCTAGAG 0.493000 27 227 0 0 1 0 0 ALDH5A1 7915 broad.mit.edu 37 6 24515420 24515420 + Missense_Mutation SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr6:24515420C>T ENST00000357578.3 + 5 897 c.752C>T c.(751-753)tCa>tTa p.S251L ALDH5A1_ENST00000348925.2_Missense_Mutation_p.S264L|ALDH5A1_ENST00000491546.1_Missense_Mutation_p.S223L|ALDH5A1_ENST00000546278.1_Missense_Mutation_p.S163L NM_001080.3 NP_001071.1 P51649 SSDH_HUMAN aldehyde dehydrogenase 5 family, member A1 251 acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process mitochondrial matrix|soluble fraction succinate-semialdehyde dehydrogenase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1) 20 Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139) GGGATTCCTTCAGGTGTATAC 0.378000 6 68 0 0 1 0 0 COPB1 1315 broad.mit.edu 37 11 14490983 14490983 + Missense_Mutation SNP C C G TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr11:14490983C>G ENST00000249923.3 - 15 2164 c.1864G>C c.(1864-1866)Gaa>Caa p.E622Q COPB1_ENST00000439561.2_Missense_Mutation_p.E622Q NM_016451.4 NP_057535.1 P53618 COPB_HUMAN coatomer protein complex, subunit beta 1 622 COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane protein binding|structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 36 GGTGAACATTCAGACAAGACC 0.388000 4 59 0 0 1 0 0 ADCY2 108 broad.mit.edu 37 5 7695897 7695897 + Missense_Mutation SNP G G A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr5:7695897G>A ENST00000338316.4 + 6 991 c.902G>A c.(901-903)cGg>cAg p.R301Q ADCY2_ENST00000537121.1_Missense_Mutation_p.R121Q NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 301 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 119 GGCTTTACCCGGCTGGCAAGT 0.413000 17 26 0 0 1 0 0 H1FNT 341567 broad.mit.edu 37 12 48723537 48723537 + Missense_Mutation SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr12:48723537C>T ENST00000335017.1 + 1 775 c.463C>T c.(463-465)Cgg>Tgg p.R155W NM_181788.1 NP_861453.1 Q75WM6 H1FNT_HUMAN H1 histone family, member N, testis-specific 155 Arg-rich. chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation nuclear chromatin ATP binding|DNA binding endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 13 CCGGAGCTCCCGGAGGCGCCG 0.711000 6 11 0 0 1 0 0 TRIM23 373 broad.mit.edu 37 5 64913964 64913964 + Missense_Mutation SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr5:64913964C>T ENST00000231524.9 - 2 571 c.200G>A c.(199-201)gGa>gAa p.G67E TRIM23_ENST00000381018.3_Missense_Mutation_p.G67E|TRIM23_ENST00000274327.7_Missense_Mutation_p.G67E NM_001656.3 NP_001647.1 P36406 TRI23_HUMAN tripartite motif containing 23 67 interspecies interaction between organisms|small GTPase mediated signal transduction Golgi membrane|lysosomal membrane enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 28 Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234) Lung(70;0.00473) GATTGCTCTTCCATGAAGAGG 0.413000 4 55 0 0 1 0 0 RUSC2 9853 broad.mit.edu 37 9 35561242 35561242 + Missense_Mutation SNP G G A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr9:35561242G>A ENST00000455600.1 + 12 4983 c.4414G>A c.(4414-4416)Gac>Aac p.D1472N NM_001135999.1 NP_001129471.1 Q8N2Y8 RUSC2_HUMAN RUN and SH3 domain containing 2 1472 SH3. cytosol NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194) CCACAAAGGAGACATCCTACG 0.652000 8 80 0 0 1 0 0 HDGFRP3 0 broad.mit.edu 37 15 83826306 83826306 + Missense_Mutation SNP G G A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr15:83826306G>A ENST00000299633.4 - 4 923 c.320C>T c.(319-321)tCt>tTt p.S107F NM_016073.3 NP_057157.1 Q9Y3E1 HDGR3_HUMAN 107 cell proliferation nucleus growth factor activity kidney(1)|large_intestine(1)|lung(4)|prostate(1) 7 AGTTTCTGAAGAGCTCTGTTG 0.348000 6 22 0 0 1 0 0 FKBP1B 2281 broad.mit.edu 37 2 24285898 24285898 + Missense_Mutation SNP C C G TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr2:24285898C>G ENST00000380991.4 + 4 357 c.208C>G c.(208-210)Ctt>Gtt p.L70V FKBP1B_ENST00000452109.1_Intron|FKBP1B_ENST00000380986.4_Intron P68106 FKB1B_HUMAN FK506 binding protein 1B, 12.6 kDa 0 PPIase FKBP-type. 'de novo' protein folding|negative regulation of heart rate|negative regulation of protein phosphatase type 2B activity|protein maturation by protein folding|protein refolding|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|regulation of ryanodine-sensitive calcium-release channel activity|response to redox state calcium channel complex|sarcoplasmic reticulum membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity|receptor binding lung(2) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCTGGGTCCTCTTTCTCCTCT 0.488000 4 24 0 0 1 0 0 AP3M1 26985 broad.mit.edu 37 10 75883653 75883653 + Missense_Mutation SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr10:75883653C>T ENST00000355264.4 - 9 1483 c.1172G>A c.(1171-1173)cGt>cAt p.R391H AP3M1_ENST00000372745.1_Missense_Mutation_p.R391H NM_012095.4 NP_036227.1 Q9Y2T2 AP3M1_HUMAN adaptor-related protein complex 3, mu 1 subunit 391 MHD. protein targeting to lysosome|vesicle-mediated transport clathrin adaptor complex|Golgi apparatus|lysosome protein binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1) 13 Prostate(51;0.0112) CATGTCCAAACGGTTTACTTT 0.353000 18 68 0 0 1 0 0 IGSF9B 22997 broad.mit.edu 37 11 133789788 133789788 + Missense_Mutation SNP G G T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr11:133789788G>T ENST00000321016.8 - 18 4062 c.3832C>A c.(3832-3834)Ctg>Atg p.L1278M IGSF9B_ENST00000533871.2_Missense_Mutation_p.L1278M Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 1278 Pro-rich. integral to membrane|plasma membrane breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) CCGGTGGCCAGAGTGGTGAAG 0.677000 5 30 0.000602214 0.000623722 1 1 0 F9 2158 broad.mit.edu 37 X 138630629 138630629 + Nonsense_Mutation SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chrX:138630629C>T ENST00000218099.2 + 5 506 c.499C>T c.(499-501)Cag>Tag p.Q167* F9_ENST00000394090.2_Nonsense_Mutation_p.Q129* NM_000133.3 NP_000124.1 P00740 FA9_HUMAN coagulation factor IX 167 EGF-like 2. Q -> H (in HEMB; mild). blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane calcium ion binding|serine-type endopeptidase activity breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1) 35 Acute lymphoblastic leukemia(192;0.000127) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170) TGCAGAAAACCAGAAGTCCTG 0.348000 5 55 0 0 1 0 0 EIF1 10209 broad.mit.edu 37 17 39846029 39846029 + Splice_Site SNP G G C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr17:39846029G>C ENST00000469257.1 + 2 177 c.e2-1 JUP_ENST00000540235.1_Intron|EIF1_ENST00000591776.1_Splice_Site|EIF1_ENST00000310837.4_Intron P41567 EIF1_HUMAN eukaryotic translation initiation factor 1 regulation of translational initiation|response to stress cytoplasm translation initiation factor activity haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|skin(1) 5 Breast(137;0.000307) BRCA - Breast invasive adenocarcinoma(4;0.0677) TTTTTTTTCAGACCCCTTTGC 0.483000 OREG0024409 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 55 0 0 1 0 0 C2orf16 84226 broad.mit.edu 37 2 27803866 27803866 + Missense_Mutation SNP G G C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr2:27803866G>C ENST00000408964.2 + 1 4478 c.4427G>C c.(4426-4428)aGa>aCa p.R1476T NM_032266.3 NP_115642.3 Q68DN1 CB016_HUMAN chromosome 2 open reading frame 16 1476 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) CAGCCTCTGAGAACTGTTCAA 0.473000 18 139 0 0 1 0 0 KRT6B 3854 broad.mit.edu 37 12 52845724 52845724 + Missense_Mutation SNP G G C TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr12:52845724G>C ENST00000252252.3 - 1 186 c.139C>G c.(139-141)Ctg>Gtg p.L47V NM_005555.3 NP_005546.2 P04259 K2C6B_HUMAN keratin 6B 47 Head. ectoderm development keratin filament structural constituent of cytoskeleton NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2) 40 BRCA - Breast invasive adenocarcinoma(357;0.083) GCGCCACCCAGGCCACCACTG 0.667000 5 242 0 0 1 0 0 STAT1 6772 broad.mit.edu 37 2 191844515 191844515 + Silent SNP G G T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr2:191844515G>T ENST00000361099.3 - 20 2097 c.1710C>A c.(1708-1710)ctC>ctA p.L570L STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Silent_p.L570L|STAT1_ENST00000392322.3_Silent_p.L570L|STAT1_ENST00000392323.2_Silent_p.L572L NM_007315.3 NP_009330.1 P42224 STAT1_HUMAN signal transducer and activator of transcription 1, 91kDa 570 activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein cytosol|nucleolus|nucleoplasm calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141) Fludarabine(DB01073) TCCAGAGAGGGAGCAGGTGTT 0.388000 4 28 0.00909568 0.00922289 1 1 0 SERHL2 253190 broad.mit.edu 37 22 42968533 42968533 + Nonsense_Mutation SNP G G T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr22:42968533G>T ENST00000327678.5 + 11 925 c.823G>T c.(823-825)Gag>Tag p.E275* SERHL2_ENST00000340239.4_3'UTR|RRP7B_ENST00000357802.2_RNA|SERHL2_ENST00000335879.5_Nonsense_Mutation_p.E211*|SERHL2_ENST00000407614.4_Nonsense_Mutation_p.E95* NM_014509.3 NP_055324.2 Q9H4I8 SEHL2_HUMAN serine hydrolase-like 2 275 perinuclear region of cytoplasm|peroxisome hydrolase activity breast(1)|endometrium(2)|lung(3)|skin(1)|stomach(1) 8 CACCCTCAAAGAGGTAAGACG 0.527000 5 73 0.014758 0.0149296 1 1 0 MED13L 23389 broad.mit.edu 37 12 116460310 116460310 + Silent SNP G G A TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr12:116460310G>A ENST00000281928.3 - 5 782 c.576C>T c.(574-576)atC>atT p.I192I NM_015335.4 NP_056150.1 Q71F56 MD13L_HUMAN mediator complex subunit 13-like 192 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 85 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) GCTCCTCATTGATCAAATAAA 0.463000 4 24 0 0 1 0 0 FAM179B 23116 broad.mit.edu 37 14 45432775 45432775 + Missense_Mutation SNP C C G TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr14:45432775C>G ENST00000361462.2 + 1 1334 c.1151C>G c.(1150-1152)cCt>cGt p.P384R FAM179B_ENST00000382233.2_Missense_Mutation_p.P384R|FAM179B_ENST00000361577.3_Missense_Mutation_p.P384R Q9Y4F4 F179B_HUMAN family with sequence similarity 179, member B 384 binding endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 45 AAATTTAACCCTAGTTCTACT 0.423000 4 65 0 0 1 0 0 EPB41L2 2037 broad.mit.edu 37 6 131179290 131179290 + Missense_Mutation SNP C C G TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr6:131179290C>G ENST00000337057.3 - 19 3185 c.3004G>C c.(3004-3006)Gaa>Caa p.E1002Q EPB41L2_ENST00000525193.1_Missense_Mutation_p.E703Q|EPB41L2_ENST00000527659.1_Missense_Mutation_p.E808Q|EPB41L2_ENST00000392427.3_Missense_Mutation_p.E670Q|EPB41L2_ENST00000527411.1_Missense_Mutation_p.E932Q|EPB41L2_ENST00000525271.1_Missense_Mutation_p.E670Q|EPB41L2_ENST00000530757.1_Missense_Mutation_p.E198Q|EPB41L2_ENST00000530481.1_Missense_Mutation_p.E849Q|EPB41L2_ENST00000524581.1_Missense_Mutation_p.E380Q|EPB41L2_ENST00000529208.1_Missense_Mutation_p.E932Q|EPB41L2_ENST00000445890.2_Missense_Mutation_p.E744Q|EPB41L2_ENST00000368128.2_Missense_Mutation_p.E1002Q|EPB41L2_ENST00000531410.1_Missense_Mutation_p.E123Q|EPB41L2_ENST00000528282.1_Missense_Mutation_p.E744Q NM_001431.3 NP_001422.1 O43491 E41L2_HUMAN erythrocyte membrane protein band 4.1-like 2 1002 Carboxyl-terminal (CTD). cortical actin cytoskeleton organization extrinsic to membrane|plasma membrane|spectrin actin binding|structural molecule activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2) 44 Breast(56;0.0639) OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355) TCTTCCCCTTCCTCAGCCAAC 0.502000 21 148 0 0 1 0 0 OR2T3 343173 broad.mit.edu 37 1 248637188 248637188 + Silent SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr1:248637188C>T ENST00000359594.2 + 1 562 c.537C>T c.(535-537)atC>atT p.I179I NM_001005495.1 NP_001005495.1 Q8NH03 OR2T3_HUMAN olfactory receptor, family 2, subfamily T, member 3 179 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3) 31 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CTAGGAAAATCCTGAGTTTTT 0.522000 4 131 0 0 1 0 0 HDAC7 51564 broad.mit.edu 37 12 48189070 48189070 + Missense_Mutation SNP C C T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr12:48189070C>T ENST00000080059.7 - 11 1180 c.1181G>A c.(1180-1182)cGg>cAg p.R394Q HDAC7_ENST00000427332.2_Missense_Mutation_p.R355Q|HDAC7_ENST00000380610.4_Missense_Mutation_p.R411Q|HDAC7_ENST00000354334.3_Missense_Mutation_p.R357Q|HDAC7_ENST00000552960.1_Missense_Mutation_p.R377Q NM_015401.3 NP_056216.2 Q8WUI4 HDAC7_HUMAN histone deacetylase 7 355 Transcription repression 2 (By similarity). negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent cytoplasm|histone deacetylase complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 GBM - Glioblastoma multiforme(48;0.137) TGAGCGAGTCCGGCTCAGTGG 0.677000 20 41 0 0 1 0 0 CROCCP3 0 broad.mit.edu 37 1 16795169 16795170 + RNA INS - - TG rs142896042 by1000genomes TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr1:16795169_16795170insTG ENST00000263511.4 - 0 4128_4129 NR_023386.1 TTGAAGGTGACTGGTCACACCA 0.460 3 3 --- --- --- --- RP11-473A10.2 0 broad.mit.edu 37 1 18045853 18045871 + RNA DEL GGGGGCTGGATATGTTGCT GGGGGCTGGATATGTTGCT - rs138408148 TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr1:18045853_18045871delGGGGGCTGGATATGTTGCT ENST00000430540.1 + 0 219 tggctgagccgggGGCTGGATATGTTGCTGGGAGGAACA 0.580 3 3 --- --- --- --- ZSWIM5 57643 broad.mit.edu 37 1 45553866 45553867 + Frame_Shift_Del DEL AG AG - TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr1:45553866_45553867delAG ENST00000359600.5 - 2 843_844 c.638_639delCT c.(637-639)tfs p.S213fs ZSWIM5_ENST00000464588.1_5'UTR NM_020883.1 NP_065934.1 Q9P217 ZSWM5_HUMAN zinc finger, SWIM-type containing 5 213 zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 28 Acute lymphoblastic leukemia(166;0.155) CTGCTGGTTCAGAGGCAGTGGC 0.421 7 61 --- --- --- --- RP11-782C8.2 0 broad.mit.edu 37 1 143179972 143179972 + RNA DEL G G - TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr1:143179972delG ENST00000412204.2 - 0 2503 RP11-782C8.1_ENST00000438000.1_lincRNA gaagttaaaagggtgtttgtt 0.393 2 4 --- --- --- --- AC007682.1 0 broad.mit.edu 37 2 52489916 52489917 + RNA DEL GC GC - rs4635561 by1000genomes TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr2:52489916_52489917delGC ENST00000440698.1 + 0 879 gtgtgtgtgtgcgtgtCTCAGC 0.520 2 4 --- --- --- --- NCKIPSD 51517 broad.mit.edu 37 3 48720447 48720448 + Splice_Site INS - - G TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr3:48720447_48720448insG ENST00000294129.2 - 2 291 c.e2-2 NCKIPSD_ENST00000341520.4_Splice_Site|NCKIPSD_ENST00000416649.2_Splice_Site NM_016453.2 NP_057537.1 Q9NZQ3 SPN90_HUMAN NCK interacting protein with SH3 domain cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction intermediate filament|nucleus cytoskeletal protein binding|SH3 domain binding p.?(1) endometrium(1)|large_intestine(3)|lung(6)|prostate(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) CTCCAGGCCCTGGGGGGGGCAG 0.619 2 4 --- --- --- --- RP11-696N14.1 0 broad.mit.edu 37 4 100026988 100026988 + RNA DEL A A - rs35565607 TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr4:100026988delA ENST00000500358.2 + 0 428 NR_037884.1 taagactgccacctctttagg 0.448 5 1 --- --- --- --- CTC-467M3.1 0 broad.mit.edu 37 5 87980814 87980816 + RNA DEL GAG GAG - TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr5:87980814_87980816delGAG ENST00000510274.1 + 0 46 ggaggaggaagaggaggaggagg 0.581 2 4 --- --- --- --- POLR2J4 0 broad.mit.edu 37 7 44018551 44018554 + RNA DEL TGAA TGAA - rs10605646 by1000genomes TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr7:44018551_44018554delTGAA ENST00000427076.1 - 0 894 NR_003655.2 agtgagtgagtgaatgaatgaatg 0.500 2 4 --- --- --- --- ZAN 7455 broad.mit.edu 37 7 100365264 100365265 + RNA INS - - T TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr7:100365264_100365265insT ENST00000542585.1 + 0 5008 ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) tgcacggctaattttttttttc 0.535 2 4 --- --- --- --- TNPO3 23534 broad.mit.edu 37 7 128610355 128610356 + Frame_Shift_Del DEL AA AA - TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr7:128610355_128610356delAA ENST00000393245.1 - 20 2919_2920 c.2546_2547delTT c.(2545-2547)tfs p.F849fs TNPO3_ENST00000482320.1_Frame_Shift_Del_p.F749fs|TNPO3_ENST00000471234.1_Frame_Shift_Del_p.F751fs|TNPO3_ENST00000471166.1_Frame_Shift_Del_p.F849fs|TNPO3_ENST00000265388.5_Frame_Shift_Del_p.F815fs NM_012470.3 NP_036602.1 Q9Y5L0 TNPO3_HUMAN transportin 3 815 splicing factor protein import into nucleus cytoplasm|nucleus protein binding|receptor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3) 22 TCCGTAATTCAAAGTCTTCTTC 0.455 49 177 --- --- --- --- AC068580.7 0 broad.mit.edu 37 11 1798832 1798832 + RNA DEL G G - TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr11:1798832delG ENST00000449749.1 - 0 93 GGATCATTGAGGGCTGAGCTG 0.627 2 4 --- --- --- --- RP11-64D24.2 0 broad.mit.edu 37 11 114128386 114128387 + RNA DEL AC AC - TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr11:114128386_114128387delAC ENST00000544925.1 - 0 56 CAACTCCCCGacacacacacac 0.599 3 3 --- --- --- --- RP11-474D1.3 0 broad.mit.edu 37 12 130527609 130527614 + RNA DEL TACCCA TACCCA - rs12426767 TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr12:130527609_130527614delTACCCA ENST00000567788.1 - 0 1139 RP11-474D1.4_ENST00000561864.1_lincRNA tgcatacatttacccatacctacacg 0.442 2 4 --- --- --- --- RP11-159L20.2 0 broad.mit.edu 37 14 31272283 31272284 + RNA INS - - ATGT rs60675498 by1000genomes TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr14:31272283_31272284insATGT ENST00000554665.1 - 0 208 TCCATTGCAGCgtgtgtgtgtg 0.475 2 4 --- --- --- --- RP11-472N19.3 0 broad.mit.edu 37 14 92725548 92725548 + RNA DEL C C - TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr14:92725548delC ENST00000553537.1 - 0 134 aggtgaacctccAGCCACATC 0.592 2 4 --- --- --- --- SNHG14 0 broad.mit.edu 37 15 25432666 25432666 + RNA DEL G G - TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr15:25432666delG ENST00000424208.1 + 0 761 NR_003305.1 TGTGTGTGGTGGGGGGTGCCC 0.552 9 483 --- --- --- --- SNHG14 0 broad.mit.edu 37 15 25479907 25479908 + RNA INS - - T rs75602507 by1000genomes TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr15:25479907_25479908insT ENST00000453082.2 + 0 1934 NR_003343.1 AGGAGGGTGGGTTTTTGGGAAT 0.574 4 3 --- --- --- --- RP11-519G16.3 0 broad.mit.edu 37 15 45755523 45755525 + RNA DEL CAC CAC - TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr15:45755523_45755525delCAC ENST00000560077.1 + 0 41 RP11-519G16.3_ENST00000558536.1_RNA|RP11-519G16.3_ENST00000560647.1_RNA ccatcaccatcaccaccaccacc 0.581 4 6 --- --- --- --- RP11-718O11.1 0 broad.mit.edu 37 15 45998661 45998662 + RNA DEL TT TT - rs34610092 TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr15:45998661_45998662delTT ENST00000560705.1 + 0 212 ATTCTACCTCtttttttttttt 0.436 3 6 --- --- --- --- RP11-863P13.2 0 broad.mit.edu 37 16 88226611 88226611 + RNA DEL G G - TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr16:88226611delG ENST00000568587.1 - 0 91 tggtggtgatggtggtgatgg 0.522 4 9 --- --- --- --- RP11-445F12.1 0 broad.mit.edu 37 17 35223502 35223502 + RNA DEL T T - rs35954827 TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr17:35223502delT ENST00000528383.1 - 0 98 ggctcccccctggtctccttc 0.448 7 1 --- --- --- --- RP11-595B24.1 0 broad.mit.edu 37 18 19617701 19617702 + RNA INS - - C rs151134792 by1000genomes TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr18:19617701_19617702insC ENST00000584898.1 + 0 39 gagttccagtgctttgcattct 0.371 3 3 --- --- --- --- AC008984.2 0 broad.mit.edu 37 19 54843240 54843241 + RNA DEL CT CT - TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr19:54843240_54843241delCT ENST00000507363.1 - 0 430 GGGAGGCCTCCTCTCCCAGGAG 0.629 2 4 --- --- --- --- RP4-610C12.1 0 broad.mit.edu 37 20 29588566 29588566 + RNA DEL A A - TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr20:29588566delA ENST00000432067.1 - 0 152 tttgtattttattgagaattt 0.323 4 6 --- --- --- --- RP5-1043L13.1 0 broad.mit.edu 37 20 58889680 58889687 + RNA DEL ATCCTCCT ATCCTCCT - TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr20:58889680_58889687delATCCTCCT ENST00000432910.1 + 0 332 NR_046099.1 cctcccatccatcctcctatccatccat 0.548 2 4 --- --- --- --- RP13-152O15.5 0 broad.mit.edu 37 20 62688200 62688200 + RNA DEL G G - TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr20:62688200delG ENST00000455524.1 + 0 45 GACGCCTGTTGGGGCCAGGGC 0.652 2 4 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11042864 11042867 + RNA DEL AGTA AGTA - rs56773804 TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr21:11042864_11042867delAGTA ENST00000470054.1 - 0 774 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) caatattaatagtaagtaagctta 0.358 4 5 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11062731 11062732 + RNA INS - - AA rs71303621 TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr21:11062731_11062732insAA ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) actttttttttaaatttattat 0.460 2 4 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11066883 11066884 + RNA INS - - AA rs147216020 TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr21:11066883_11066884insAA ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TTAGAATCCATAATACTCTCAG 0.366 2 4 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11093133 11093134 + RNA INS - - A rs141935972 TCGA-N9-A4Q7-01A-11D-A28R-08 TCGA-N9-A4Q7-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7 43f5a1ae-b52c-4f69-9da1-c16cfa218bd1 g.chr21:11093133_11093134insA ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TGTTCTCCCCTACCCCCCACAA 0.401 2 4 --- --- --- ---