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 CNTN6 27255 broad.mit.edu 37 3 1424997 1424997 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:1424997G>A ENST00000446702.2 + 19 3049 c.2422G>A c.(2422-2424)Gga>Aga p.G808R CNTN6_ENST00000350110.2_Missense_Mutation_p.G808R|CNTN6_ENST00000539053.1_Missense_Mutation_p.G736R Q9UQ52 CNTN6_HUMAN contactin 6 808 Fibronectin type-III 3. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) GGCCCCAAGGGGAACTTCTCT 0.433000 85 120 0 0 1 0 0 CNOT4 4850 broad.mit.edu 37 7 135098321 135098321 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:135098321C>T ENST00000428680.2 - 6 882 c.603G>A c.(601-603)aaG>aaA p.K201K CNOT4_ENST00000423368.2_Silent_p.K201K|CNOT4_ENST00000541284.1_Silent_p.K201K|CNOT4_ENST00000414802.1_Silent_p.K201K|CNOT4_ENST00000315544.5_Silent_p.K201K|CNOT4_ENST00000356162.4_Silent_p.K201K|CNOT4_ENST00000361528.4_Silent_p.K201K|CNOT4_ENST00000451834.1_Silent_p.K201K NM_001008225.2 NP_001008226.1 O95628 CNOT4_HUMAN CCR4-NOT transcription complex, subunit 4 201 nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1) 22 ACTGCATATTCTTTAAGAAGT 0.428000 16 34 0 0 1 0 0 LAMB2 3913 broad.mit.edu 37 3 49160884 49160884 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:49160884G>A ENST00000418109.1 - 26 4142 c.3978C>T c.(3976-3978)ttC>ttT p.F1326F LAMB2_ENST00000305544.4_Silent_p.F1326F NM_002292.3 NP_002283.3 P55268 LAMB2_HUMAN laminin, beta 2 (laminin S) 1326 Domain II. cell adhesion laminin-11 complex|laminin-3 complex structural molecule activity NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) ACTCACCCAGGAAGTTTGAAT 0.522000 23 46 0 0 1 0 0 MAMDC2 256691 broad.mit.edu 37 9 72758635 72758635 + Missense_Mutation SNP A A C TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr9:72758635A>C ENST00000377182.4 + 9 1921 c.1304A>C c.(1303-1305)gAg>gCg p.E435A MAMDC2-AS1_ENST00000591368.1_RNA NM_153267.4 NP_694999.3 Q7Z304 MAMC2_HUMAN MAM domain containing 2 435 MAM 3. endoplasmic reticulum|membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1) 14 ATCTTTGAAGAGAACCATGTG 0.443000 44 25 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179432597 179432597 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:179432597G>A ENST00000589042.1 - 326 78486 c.78262C>T c.(78262-78264)Ccc>Tcc p.P26088S TTN_ENST00000342992.6_Missense_Mutation_p.P23520S|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P24447S|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P17023S|TTN_ENST00000342175.6_Missense_Mutation_p.P17215S|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P17148S|TTN-AS1_ENST00000456053.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 24447 Ig-like 126. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.P17148S(1)|p.P17023S(1)|p.P17215S(1)|p.P23518S(1) 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) GGGTCACAGGGATCTCTGGCT 0.398000 52 125 0 0 1 0 0 SRRM4 84530 broad.mit.edu 37 12 119592120 119592120 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:119592120G>A ENST00000267260.4 + 12 1852 c.1464G>A c.(1462-1464)cgG>cgA p.R488R NM_194286.3 NP_919262.2 A7MD48 SRRM4_HUMAN serine/arginine repetitive matrix 4 488 Arg-rich.|Ser-rich. cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing nucleus mRNA binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 24 GGAGACGTCGGTCCTACTCGC 0.672000 4 13 0 0 1 0 0 CDH10 1008 broad.mit.edu 37 5 24488226 24488226 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:24488226C>T ENST00000264463.4 - 12 2420 c.1913G>A c.(1912-1914)cGa>cAa p.R638Q CDH10_ENST00000502921.1_5'UTR NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 638 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.R638L(1)|p.R638Q(1) NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) CTCTTTTTTTCGCTGTCTTTT 0.398000 HNSCC(23;0.051) 15 50 0 0 1 0 0 OTOL1 131149 broad.mit.edu 37 3 161214933 161214933 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:161214933G>A ENST00000327928.4 + 1 338 c.338G>A c.(337-339)gGa>gAa p.G113E NM_001080440.1 NP_001073909.1 A6NHN0 OTOL1_HUMAN otolin 1 113 collagen central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1) 27 GGGCAGAAAGGAGAACCTGGA 0.443000 37 49 0 0 1 0 0 KLHL5 51088 broad.mit.edu 37 4 39088189 39088189 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr4:39088189G>A ENST00000261425.3 + 6 1107 c.955G>A c.(955-957)Gaa>Aaa p.E319K KLHL5_ENST00000261426.5_Missense_Mutation_p.E304K|KLHL5_ENST00000381930.3_Missense_Mutation_p.E365K|KLHL5_ENST00000508137.2_Missense_Mutation_p.E178K|KLHL5_ENST00000359687.2_Missense_Mutation_p.E365K|KLHL5_ENST00000504108.1_Missense_Mutation_p.E365K NM_001007075.2 NP_001007076.1 Q96PQ7 KLHL5_HUMAN kelch-like family member 5 365 cytoplasm|cytoskeleton actin binding endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 29 ACCAGCCAGCGAAATTGCAAA 0.393000 56 29 0 0 1 0 0 LIPH 200879 broad.mit.edu 37 3 185229381 185229381 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:185229381G>A ENST00000296252.4 - 9 1340 c.1199C>T c.(1198-1200)tCt>tTt p.S400F LIPH_ENST00000424591.2_Missense_Mutation_p.S366F NM_139248.2 NP_640341.1 Q8WWY8 LIPH_HUMAN lipase, member H 400 lipid catabolic process extracellular space|plasma membrane heparin binding|phospholipase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2) 20 all_cancers(143;8.87e-11)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;1.31e-21) GCCTATTAGAGATCCTGTAGA 0.453000 36 55 0 0 1 0 0 MYL1 4632 broad.mit.edu 37 2 211163274 211163274 + Silent SNP T T A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:211163274T>A ENST00000352451.3 - 3 321 c.174A>T c.(172-174)gcA>gcT p.A58A MYL1_ENST00000496436.1_5'UTR|MYL1_ENST00000341685.4_Silent_p.A14A NM_079420.2 NP_524144.1 P05976 MYL1_HUMAN myosin, light chain 1, alkali; skeletal, fast 58 EF-hand 1. muscle filament sliding|muscle organ development cytosol|muscle myosin complex|sarcomere calcium ion binding|structural constituent of muscle breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1) 16 Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057) ACAGGAGAAATGCCTCCTTGA 0.418000 9 36 0 0 1 0 0 OR10G7 390265 broad.mit.edu 37 11 123908929 123908929 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:123908929C>T ENST00000330487.5 - 1 788 c.780G>A c.(778-780)agG>agA p.R260R NM_001004463.1 NP_001004463.1 Q8NGN6 O10G7_HUMAN olfactory receptor, family 10, subfamily G, member 7 260 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) TGGAGCCTGGCCTCAGGTAAA 0.557000 32 54 0 0 1 0 0 NETO2 81831 broad.mit.edu 37 16 47143407 47143407 + Silent SNP A A G TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr16:47143407A>G ENST00000562435.1 - 7 1254 c.870T>C c.(868-870)acT>acC p.T290T NETO2_ENST00000303155.5_Silent_p.T283T NM_018092.4 NP_060562.3 Q8NC67 NETO2_HUMAN neuropilin (NRP) and tolloid (TLL)-like 2 290 CUB 2. integral to membrane receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 29 all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174) CCACAAAGGAAGTAAAGAGCA 0.363000 HNSCC(25;0.065) 24 40 0 0 1 0 0 CDH4 1002 broad.mit.edu 37 20 60485487 60485487 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr20:60485487G>A ENST00000360469.5 + 9 1286 c.1198G>A c.(1198-1200)Gag>Aag p.E400K CDH4_ENST00000543233.1_Missense_Mutation_p.E326K NM_001794.3 NP_001785.2 P55283 CADH4_HUMAN cadherin 4, type 1, R-cadherin (retinal) 400 Cadherin 3. adherens junction organization|cell junction assembly calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) GTTTGCAGGGGAGGTCCCCGA 0.512000 14 29 0 0 1 0 0 ZNF676 163223 broad.mit.edu 37 19 22363199 22363199 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:22363199C>T ENST00000397121.2 - 3 1637 c.1320G>A c.(1318-1320)aaG>aaA p.K440K NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 440 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K440N(1) NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) CATGAATTCTCTTGTGTTCAG 0.438000 38 49 0 0 1 0 0 MAP4K1 11184 broad.mit.edu 37 19 39086130 39086130 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:39086130C>T ENST00000591517.1 - 29 2363 c.2335G>A c.(2335-2337)Gat>Aat p.D779N MAP4K1_ENST00000396857.2_Missense_Mutation_p.D779N|MAP4K1_ENST00000589130.1_Missense_Mutation_p.D775N|MAP4K1_ENST00000586296.1_Missense_Mutation_p.D353N NM_007181.4 NP_009112.1 Q92918 M4K1_HUMAN mitogen-activated protein kinase kinase kinase kinase 1 779 CNH. activation of JUN kinase activity|peptidyl-serine phosphorylation ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 44 all_cancers(60;6.42e-06)|Ovarian(47;0.103) Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272) CTTACCTGATCCGAGCCTAGA 0.562000 15 31 0 0 1 0 0 TRIB1 10221 broad.mit.edu 37 8 126448372 126448372 + Missense_Mutation SNP T T C TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:126448372T>C ENST00000311922.3 + 3 1360 c.778T>C c.(778-780)Tac>Cac p.Y260H TRIB1_ENST00000520847.1_Missense_Mutation_p.Y94H|TRIB1_ENST00000519576.1_Missense_Mutation_p.Y29H NM_025195.2 NP_079471.1 Q96RU8 TRIB1_HUMAN tribbles pseudokinase 1 260 Protein kinase. JNK cascade|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity|response to lipopolysaccharide cytoplasm|nucleus ATP binding|mitogen-activated protein kinase kinase binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity NS(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1) 8 all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918) CACTGGGACCTACTCCGGAAA 0.547000 10 27 0 0 1 0 0 OR4N4 283694 broad.mit.edu 37 15 22383012 22383012 + Missense_Mutation SNP T T G TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr15:22383012T>G ENST00000328795.4 + 1 631 c.540T>G c.(538-540)gaT>gaG p.D180E RP11-69H14.6_ENST00000558896.1_RNA NM_001005241.2 NP_001005241.2 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, member 4 180 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 40 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) TCTTCTGTGATGTCCGACAGG 0.532000 20 48 0 0 1 0 0 DSCAML1 57453 broad.mit.edu 37 11 117301690 117301690 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:117301690C>T ENST00000321322.6 - 32 5615 c.5614G>A c.(5614-5616)Gcc>Acc p.A1872T DSCAML1_ENST00000527706.1_Missense_Mutation_p.A1602T NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1812 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) TAGGCCCGGGCCAGCTCCTCG 0.572000 61 109 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32029314 32029314 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:32029314C>T ENST00000375244.3 - 21 7553 c.7352G>A c.(7351-7353)cGg>cAg p.R2451Q TNXB_ENST00000375247.2_Missense_Mutation_p.R2451Q P22105 TENX_HUMAN tenascin XB 2511 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 CACCTGGGGCCGCCCGTCCCT 0.662000 31 63 0 0 1 0 0 PLA2G7 7941 broad.mit.edu 37 6 46675802 46675802 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:46675802G>A ENST00000274793.7 - 10 1162 c.966C>T c.(964-966)ttC>ttT p.F322F PLA2G7_ENST00000537365.1_Silent_p.F322F NM_005084.3 NP_005075.3 Q13093 PAFA_HUMAN phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) 322 inflammatory response|lipid catabolic process extracellular space 1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1) 14 Lung(136;0.192) CAGGATATTGGAAATATTCAG 0.343000 10 32 0 0 1 0 0 CFL1 1072 broad.mit.edu 37 11 65623182 65623182 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:65623182G>A ENST00000525451.2 - 4 1046 c.331C>T c.(331-333)Ctt>Ttt p.L111F CFL1_ENST00000524553.1_Missense_Mutation_p.L94F|CFL1_ENST00000527344.1_Missense_Mutation_p.L94F|CFL1_ENST00000531407.1_Missense_Mutation_p.L94F|CFL1_ENST00000531413.1_Missense_Mutation_p.L94F|CFL1_ENST00000308162.5_Missense_Mutation_p.L111F|CFL1_ENST00000534769.1_Missense_Mutation_p.L149F P23528 COF1_HUMAN cofilin 1 (non-muscle) 111 ADF-H. actin cytoskeleton organization|anti-apoptosis|axon guidance|platelet activation|platelet degranulation|response to virus|Rho protein signal transduction cytoplasm|cytoskeleton|nuclear matrix actin binding breast(1)|kidney(1)|large_intestine(2)|lung(2) 6 READ - Rectum adenocarcinoma(159;0.169) TTGCTCTTAAGGGGCGCAGAC 0.562000 17 19 0 0 1 0 0 DLGAP4 22839 broad.mit.edu 37 20 35060493 35060493 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr20:35060493C>T ENST00000373913.3 + 3 853 c.373C>T c.(373-375)Ccc>Tcc p.P125S DLGAP4_ENST00000373907.2_Missense_Mutation_p.P125S|DLGAP4_ENST00000401952.2_Missense_Mutation_p.P125S|DLGAP4_ENST00000339266.5_Missense_Mutation_p.P125S Q9Y2H0 DLGP4_HUMAN discs, large (Drosophila) homolog-associated protein 4 125 cell-cell signaling membrane protein binding p.P125S(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) CCTCCAATTTCCCCGTGGCGA 0.632000 49 97 0 0 1 0 0 DHX33 56919 broad.mit.edu 37 17 5364307 5364307 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr17:5364307C>T ENST00000225296.3 - 4 1001 c.801G>A c.(799-801)caG>caA p.Q267Q DHX33_ENST00000433302.3_Intron NM_001199699.1|NM_020162.3 NP_001186628.1|NP_064547.2 Q9H6R0 DHX33_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 33 267 nucleolus ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 GGTAATCATTCTGAGGCTGTT 0.522000 72 22 0 0 1 0 0 BTNL2 56244 broad.mit.edu 37 6 32372983 32372983 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:32372983G>A ENST00000454136.3 - 2 164 c.160C>T c.(160-162)Ccc>Tcc p.P54S BTNL2_ENST00000414363.1_Intron|BTNL2_ENST00000429232.2_Missense_Mutation_p.P54S|BTNL2_ENST00000544175.1_5'UTR|BTNL2_ENST00000374993.1_Missense_Mutation_p.P54S|BTNL2_ENST00000374995.3_Missense_Mutation_p.P54S|BTNL2_ENST00000540315.1_Intron Q9UIR0 BTNL2_HUMAN butyrophilin-like 2 (MHC class II associated) 54 Ig-like V-type 1. integral to membrane central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1) 19 GTCCTCTTGGGGAGTAGCTGG 0.532000 44 91 0 0 1 0 0 H1FNT 341567 broad.mit.edu 37 12 48723366 48723366 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:48723366G>A ENST00000335017.1 + 1 604 c.292G>A c.(292-294)Gaa>Aaa p.E98K NM_181788.1 NP_861453.1 Q75WM6 H1FNT_HUMAN H1 histone family, member N, testis-specific 98 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 CGGCCGCCACGAAGCGCCCAG 0.662000 11 11 0 0 1 0 0 HAO2 51179 broad.mit.edu 37 1 119923749 119923749 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:119923749G>A ENST00000361035.4 + 3 363 c.80G>A c.(79-81)cGa>cAa p.R27Q HAO2_ENST00000325945.3_Missense_Mutation_p.R14Q NM_001005783.1 NP_001005783.1 Q9NYQ3 HAOX2_HUMAN hydroxyacid oxidase 2 (long chain) 14 FMN hydroxy acid dehydrogenase. fatty acid alpha-oxidation peroxisome (S)-2-hydroxy-acid oxidase activity p.R14L(1) breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 30 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856) GCCCATGCGCGAGAGCAGCTG 0.468000 135 44 0 0 1 0 0 KLHL41 10324 broad.mit.edu 37 2 170366325 170366325 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:170366325C>T ENST00000284669.1 + 1 114 c.37C>T c.(37-39)Ctt>Ttt p.L13F BBS5_ENST00000554017.1_Intron|RP11-724O16.1_ENST00000513963.1_Intron NM_006063.2 NP_006054.2 kelch-like family member 41 GGAACTGCGGCTTTACCAATC 0.488000 39 53 0 0 1 0 0 SGSM2 9905 broad.mit.edu 37 17 2276740 2276740 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr17:2276740C>T ENST00000268989.3 + 17 2210 c.2033C>T c.(2032-2034)tCc>tTc p.S678F SGSM2_ENST00000574563.1_Missense_Mutation_p.S633F|SGSM2_ENST00000426855.2_Missense_Mutation_p.S633F NM_014853.2 NP_055668.2 O43147 SGSM2_HUMAN small G protein signaling modulator 2 633 Rab-GAP TBC. intracellular Rab GTPase activator activity biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115) ACCAAGTTCTCCTCAGGCAGC 0.652000 20 9 0 0 1 0 0 SERPINB12 89777 broad.mit.edu 37 18 61233847 61233847 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr18:61233847G>A ENST00000382768.1 + 7 881 c.881G>A c.(880-882)aGg>aAg p.R294K SERPINB12_ENST00000269491.1_Missense_Mutation_p.R274K Q96P63 SPB12_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 12 274 negative regulation of protein catabolic process|regulation of proteolysis cytoplasm enzyme binding|serine-type endopeptidase inhibitor activity kidney(1)|large_intestine(5)|lung(19)|skin(1) 26 TAGCTTGAAAGGAAAATCACC 0.468000 58 69 0 0 1 0 0 STIL 6491 broad.mit.edu 37 1 47735460 47735460 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:47735460G>A ENST00000360380.3 - 15 2825 c.2462C>T c.(2461-2463)tCc>tTc p.S821F STIL_ENST00000396221.2_Missense_Mutation_p.S821F|STIL_ENST00000371877.3_Missense_Mutation_p.S821F|STIL_ENST00000337817.5_Missense_Mutation_p.S821F|STIL_ENST00000243182.6_Missense_Mutation_p.S821F Q15468 STIL_HUMAN SCL/TAL1 interrupting locus 821 cell proliferation|multicellular organismal development centrosome|cytosol central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 36 Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444) GTCCTCACTGGAAATTTTGGT 0.373000 56 28 0 0 1 0 0 PDE4C 5143 broad.mit.edu 37 19 18333048 18333048 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:18333048G>A ENST00000355502.3 - 6 1199 c.328C>T c.(328-330)Cca>Tca p.P110S PDE4C_ENST00000447275.2_Missense_Mutation_p.P4S|PDE4C_ENST00000262805.11_Missense_Mutation_p.P78S|PDE4C_ENST00000594617.2_Missense_Mutation_p.P110S|PDE4C_ENST00000594465.2_Missense_Mutation_p.P110S Q08493 PDE4C_HUMAN phosphodiesterase 4C, cAMP-specific 110 signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding p.P110S(1) breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Dyphylline(DB00651) TGCGGGACTGGAGCCTGCATA 0.622000 29 24 0 0 1 0 0 UNC5D 137970 broad.mit.edu 37 8 35402022 35402022 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:35402022C>T ENST00000453357.2 + 1 113 c.57C>T c.(55-57)ttC>ttT p.F19F UNC5D_ENST00000420357.1_Intron|UNC5D_ENST00000416672.1_Intron|UNC5D_ENST00000287272.2_Intron|UNC5D_ENST00000404895.2_Intron Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 0 apoptosis|axon guidance integral to membrane receptor activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) CTTCCGGGTTCCTGTTGGACT 0.418000 20 33 0 0 1 0 0 OR4N4 283694 broad.mit.edu 37 15 22382680 22382680 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr15:22382680G>A ENST00000328795.4 + 1 299 c.208G>A c.(208-210)Gat>Aat p.D70N RP11-69H14.6_ENST00000558896.1_RNA NM_001005241.2 NP_001005241.2 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, member 4 70 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 40 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) GGCCTTCCTGGATGCATCCTA 0.473000 19 115 0 0 1 0 0 DUSP22 56940 broad.mit.edu 37 6 350830 350830 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:350830G>A ENST00000344450.5 + 8 960 c.517G>A c.(517-519)Gga>Aga p.G173R DUSP22_ENST00000419235.2_3'UTR|DUSP22_ENST00000604971.1_3'UTR NM_020185.3 NP_064570.1 Q9NRW4 DUS22_HUMAN dual specificity phosphatase 22 173 apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway cytoplasm|nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2) 26 all_hematologic(77;0.228) Breast(5;0.0249)|all_hematologic(90;0.0489) OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669) AGCCGCTCCGGGAATTCTGAA 0.403000 20 47 0 0 1 0 0 NRP2 8828 broad.mit.edu 37 2 206590788 206590788 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:206590788C>T ENST00000360409.3 + 6 1763 c.972C>T c.(970-972)tcC>tcT p.S324S NRP2_ENST00000540841.1_Silent_p.S324S|NRP2_ENST00000412873.2_Silent_p.S324S|NRP2_ENST00000417189.1_Silent_p.S324S|NRP2_ENST00000357118.4_Silent_p.S324S|NRP2_ENST00000540178.1_Silent_p.S324S|NRP2_ENST00000355117.4_Silent_p.S324S|NRP2_ENST00000272849.3_Silent_p.S324S|NRP2_ENST00000357785.5_Silent_p.S324S NM_003872.2|NM_201266.1|NM_201279.1 NP_003863.2|NP_957718.1|NP_958436.1 O60462 NRP2_HUMAN neuropilin 2 324 F5/8 type C 1. angiogenesis|axon guidance|cell adhesion integral to membrane|membrane fraction|plasma membrane heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 52 ACTTGGATTCCAACAAGGAGT 0.512000 23 37 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25472080 25472080 + RNA SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr15:25472080G>A ENST00000453082.2 + 0 1122 NR_003343.1 GACCCCGGAGGAAAATTTGTG 0.622000 4 6 0 0 1 0 0 C1orf94 84970 broad.mit.edu 37 1 34663306 34663306 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:34663306G>A ENST00000488417.1 + 2 921 c.801G>A c.(799-801)aaG>aaA p.K267K C1orf94_ENST00000373374.3_Silent_p.K77K NM_001134734.1 NP_001128206.1 Q6P1W5 CA094_HUMAN chromosome 1 open reading frame 94 77 protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2) 32 Myeloproliferative disorder(586;0.0393) GGGTCACCAAGGACTTCCTAC 0.572000 14 60 0 0 1 0 0 PRR18 285800 broad.mit.edu 37 6 166720853 166720853 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:166720853C>T ENST00000322583.3 - 1 1018 c.778G>A c.(778-780)Gag>Aag p.E260K NM_175922.3 NP_787118.2 Q8N4B5 PRR18_HUMAN proline rich 18 260 endoplasmic reticulum haematopoietic_and_lymphoid_tissue(2)|lung(1) 3 Breast(66;2.35e-05)|Ovarian(120;0.0606)|Prostate(117;0.0959) OV - Ovarian serous cystadenocarcinoma(33;1.5e-19)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;7.96e-05) ACCAGGCCCTCGTCCACCGCC 0.741000 9 6 0 0 1 0 0 STEAP3 55240 broad.mit.edu 37 2 120003271 120003271 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:120003271C>T ENST00000354888.5 + 3 703 c.199C>T c.(199-201)Ctg>Ttg p.L67L STEAP3_ENST00000393107.2_Silent_p.L67L|STEAP3_ENST00000393110.2_Silent_p.L77L|STEAP3_ENST00000393106.2_Silent_p.L67L|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000409811.1_Silent_p.L67L|STEAP3_ENST00000450943.2_Silent_p.L67L|STEAP3_ENST00000425223.2_Silent_p.L67L|STEAP3_ENST00000393108.2_Silent_p.L67L NM_182915.2 NP_878919.2 Q658P3 STEA3_HUMAN STEAP family member 3, metalloreductase 67 apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport endosome membrane|integral to membrane|multivesicular body electron carrier activity|flavin adenine dinucleotide binding|iron ion binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1) 17 CACAGCCAGGCTGTTTCCCTC 0.627000 14 27 0 0 1 0 0 MROH1 727957 broad.mit.edu 37 8 145218744 145218744 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:145218744C>T ENST00000528919.1 + 2 136 c.15C>T c.(13-15)tcC>tcT p.S5S MROH1_ENST00000398656.4_Silent_p.S5S|MROH1_ENST00000326134.5_Silent_p.S5S|MROH1_ENST00000423230.2_Silent_p.S5S|MROH1_ENST00000534366.1_Silent_p.S5S NM_032450.2 NP_115826.2 maestro heat-like repeat family member 1 CTGAGTCCTCCATGAAGAGTG 0.512000 16 31 0 0 1 0 0 P2RY12 64805 broad.mit.edu 37 3 151056565 151056565 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:151056565G>A ENST00000302632.3 - 3 368 c.69C>T c.(67-69)atC>atT p.I23I MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron NM_022788.4|NM_176876.2 NP_073625.1|NP_795345.1 Q9H244 P2Y12_HUMAN purinergic receptor P2Y, G-protein coupled, 12 23 platelet activation integral to membrane|plasma membrane guanyl-nucleotide exchange factor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1) 17 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) Clopidogrel(DB00758)|Epoprostenol(DB01240)|Ticlopidine(DB00208)|Treprostinil(DB00374) GGACCTGGGTGATTTTGTAGT 0.468000 12 26 0 0 1 0 0 CYSLTR2 57105 broad.mit.edu 37 13 49281733 49281733 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr13:49281733C>T ENST00000282018.3 + 1 783 c.780C>T c.(778-780)ttC>ttT p.F260F NM_020377.2 NP_065110.1 Q9NS75 CLTR2_HUMAN cysteinyl leukotriene receptor 2 260 immune response integral to membrane|plasma membrane endometrium(2)|large_intestine(4)|lung(12)|skin(2) 20 all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787) GBM - Glioblastoma multiforme(99;1.19e-09) Nedocromil(DB00716) TCTTGTGTTTCCTGCCCTATC 0.488000 15 47 0 0 1 0 0 CRISPLD2 83716 broad.mit.edu 37 16 84940205 84940205 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr16:84940205C>T ENST00000262424.5 + 15 1675 c.1451C>T c.(1450-1452)cCt>cTt p.P484L CRISPLD2_ENST00000567845.1_Missense_Mutation_p.P483L NM_031476.3 NP_113664.1 Q9H0B8 CRLD2_HUMAN cysteine-rich secretory protein LCCL domain containing 2 484 LCCL 2. extracellular region|transport vesicle endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1) 18 CTGGGGACTCCTCGGGATGGA 0.582000 25 56 0 0 1 0 0 ZSCAN10 84891 broad.mit.edu 37 16 3140012 3140012 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr16:3140012C>T ENST00000252463.2 - 5 1345 c.1258G>A c.(1258-1260)Gat>Aat p.D420N ZSCAN10_ENST00000538082.2_Missense_Mutation_p.D338N|ZSCAN10_ENST00000575108.1_Missense_Mutation_p.D81N NM_032805.1 NP_116194.1 Q96SZ4 ZSC10_HUMAN zinc finger and SCAN domain containing 10 420 negative regulation of transcription, DNA-dependent|viral reproduction nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1) 24 CACAGGACATCGGTCAGTGGC 0.706000 4 12 0 0 1 0 0 KNSTRN 90417 broad.mit.edu 37 15 40675049 40675049 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr15:40675049G>A ENST00000416151.2 + 1 128 c.13G>A c.(13-15)Gaa>Aaa p.E5K KNSTRN_ENST00000249776.8_Missense_Mutation_p.E5K|KNSTRN_ENST00000448395.2_Missense_Mutation_p.E5K NM_001142761.1 NP_001136233.1 kinetochore-localized astrin/SPAG5 binding protein GGCGGCTCCCGAAGCCCCGCC 0.582000 4 2 0 0 1 0 0 KRT13 3860 broad.mit.edu 37 17 39661453 39661453 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr17:39661453G>A ENST00000246635.3 - 1 396 c.350C>T c.(349-351)tCc>tTc p.S117F KRT13_ENST00000336861.3_Missense_Mutation_p.S117F|KRT13_ENST00000587544.1_Missense_Mutation_p.S117F NM_153490.2 NP_705694.2 P13646 K1C13_HUMAN keratin 13 117 Coil 1A.|Rod. epidermis development intermediate filament structural molecule activity NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 33 Breast(137;0.000286) CTCCAGGTAGGAAGCCAGGCG 0.597000 66 85 0 0 1 0 0 PTPRN2 5799 broad.mit.edu 37 7 157926383 157926383 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:157926383G>A ENST00000389413.3 - 9 1645 c.1542C>T c.(1540-1542)atC>atT p.I514I PTPRN2_ENST00000389418.4_Silent_p.I514I|PTPRN2_ENST00000404321.2_Silent_p.I537I|PTPRN2_ENST00000409483.1_Silent_p.I476I|PTPRN2_ENST00000389416.4_Silent_p.I497I NM_130843.2 NP_570858.2 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N polypeptide 2 514 integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.I514I(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 86 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) TGTCTGTCACGATGTAGCCCC 0.657000 32 54 0 0 1 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713786 142713786 + RNA SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:142713786C>T ENST00000369381.2 - 0 819 TGTCATTTTTCATTGTGCATA 0.289000 11 42 0 0 1 0 0 B4GALNT4 338707 broad.mit.edu 37 11 376088 376088 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:376088C>T ENST00000329962.6 + 12 1110 c.1110C>T c.(1108-1110)ttC>ttT p.F370F NM_178537.4 NP_848632.2 Q76KP1 B4GN4_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 4 370 Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1) 24 all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) ACCTGTCCTTCGTTTATCCCA 0.682000 5 15 0 0 1 0 0 WDR33 55339 broad.mit.edu 37 2 128471302 128471302 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:128471302G>A ENST00000322313.4 - 18 3321 c.3163C>T c.(3163-3165)Ccc>Tcc p.P1055S NM_018383.4 NP_060853.3 Q9C0J8 WDR33_HUMAN WD repeat domain 33 1055 postreplication repair|spermatogenesis collagen|nucleus protein binding p.P1055S(1) NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) TGATCAGGGGGAAACGGAGGC 0.652000 62 100 0 0 1 0 0 RHPN1 114822 broad.mit.edu 37 8 144464755 144464755 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:144464755C>T ENST00000289013.6 + 15 2048 c.1947C>T c.(1945-1947)tgC>tgT p.C649C NM_052924.2 NP_443156.2 Q8TCX5 RHPN1_HUMAN rhophilin, Rho GTPase binding protein 1 674 signal transduction intracellular endometrium(1)|large_intestine(1)|lung(7) 9 all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156) CTGGAGGCTGCCCCCAGCCCT 0.687000 16 22 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38770294 38770294 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:38770294G>A ENST00000449082.2 - 15 2378 c.2379C>T c.(2377-2379)atC>atT p.I793I NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 793 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) TGATGGCCAGGATGATGGTGA 0.512000 33 34 0 0 1 0 0 RPS7 6201 broad.mit.edu 37 2 3624082 3624082 + Silent SNP T T A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:3624082T>A ENST00000407445.3 + 4 200 c.153T>A c.(151-153)atT>atA p.I51I RPS7_ENST00000304921.5_Silent_p.I51I|RPS7_ENST00000403564.1_Silent_p.I51I|RPS7_ENST00000406376.1_Silent_p.I51I P62081 RS7_HUMAN ribosomal protein S7 51 endocrine pancreas development|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription 90S preribosome|cytosolic small ribosomal subunit|nucleolus|small-subunit processome protein binding|RNA binding|structural constituent of ribosome endometrium(1)|lung(2)|urinary_tract(1) 4 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) OV - Ovarian serous cystadenocarcinoma(76;0.0963)|Epithelial(75;0.208) TTTAGGAAATTGAAGTTGGTG 0.393000 16 76 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 104121068 104121068 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:104121068C>T ENST00000388887.2 + 47 5079 c.4875C>T c.(4873-4875)gtC>gtT p.V1625V NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 1625 FAS1 5. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 AAGATCTGGTCGGCCCAGGCC 0.527000 57 156 0 0 1 0 0 BMP6 654 broad.mit.edu 37 6 7861759 7861759 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:7861759G>A ENST00000283147.6 + 3 1092 c.933G>A c.(931-933)acG>acA p.T311T NM_001718.4 NP_001709.1 P22004 BMP6_HUMAN bone morphogenetic protein 6 311 BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction extracellular space BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1) 23 Ovarian(93;0.0721) TTGACATCACGGCCACTAGCA 0.498000 43 112 0 0 1 0 0 KMT2B 9757 broad.mit.edu 37 19 36223189 36223189 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:36223189C>T ENST00000222270.7 + 28 5739 c.5739C>T c.(5737-5739)tcC>tcT p.S1913S KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000420124.1_Silent_p.S1913S NM_014727.1 NP_055542.1 CCAGACGTTCCCGTCGTCCCA 0.647000 8 11 0 0 1 0 0 EFCAB13 124989 broad.mit.edu 37 17 45456607 45456607 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr17:45456607C>T ENST00000331493.2 + 14 1981 c.1570C>T c.(1570-1572)Cct>Tct p.P524S EFCAB13_ENST00000517484.1_Missense_Mutation_p.P428S NM_152347.4 NP_689560.3 EF-hand calcium binding domain 13 GCGAAGTTTTCCTGAATGCAA 0.368000 19 33 0 0 1 0 0 ILDR2 387597 broad.mit.edu 37 1 166890214 166890214 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:166890214C>T ENST00000271417.3 - 9 1669 c.1614G>A c.(1612-1614)cgG>cgA p.R538R ILDR2_ENST00000528703.1_Silent_p.R479R|ILDR2_ENST00000525740.1_Silent_p.R411R|ILDR2_ENST00000529071.1_Silent_p.R519R|ILDR2_ENST00000469934.2_Intron|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000526687.1_Silent_p.R430R NM_199351.2 NP_955383.1 Q71H61 ILDR2_HUMAN immunoglobulin-like domain containing receptor 2 538 integral to membrane NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 22 CGCCCTCGGGCCGCGCCTGGC 0.761000 3 6 0 0 1 0 0 MYO1A 4640 broad.mit.edu 37 12 57430816 57430816 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:57430816C>T ENST00000442789.2 - 21 2402 c.2115G>A c.(2113-2115)caG>caA p.Q705Q MYO1A_ENST00000544473.1_Silent_p.Q543Q|MYO1A_ENST00000300119.3_Silent_p.Q705Q NM_001256041.1 NP_001242970.1 Q9UBC5 MYO1A_HUMAN myosin IA 705 IQ 1. sensory perception of sound|vesicle localization brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3) 50 GGTAAATCTTCTGTATGAGTG 0.552000 26 69 0 0 1 0 0 MAGEB16 139604 broad.mit.edu 37 X 35820576 35820576 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chrX:35820576G>A ENST00000399989.1 + 2 542 c.263G>A c.(262-264)aGc>aAc p.S88N MAGEB16_ENST00000399985.1_Missense_Mutation_p.S88N|MAGEB16_ENST00000399988.1_Missense_Mutation_p.S88N|MAGEB16_ENST00000399987.1_Missense_Mutation_p.S88N|MAGEB16_ENST00000399992.1_Missense_Mutation_p.S120N NM_001099921.1 NP_001093391.1 A2A368 MAGBG_HUMAN melanoma antigen family B, 16 88 breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 GAGGCTTCCAGCAATCAAGAA 0.507000 8 1 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9068396 9068396 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:9068396G>A ENST00000397910.4 - 3 19253 c.19050C>T c.(19048-19050)tcC>tcT p.S6350S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 6352 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TCATCGCAGAGGATCTAGGCA 0.458000 22 19 0 0 1 0 0 SLC5A8 160728 broad.mit.edu 37 12 101581230 101581230 + Silent SNP G G A rs147034851 byFrequency TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:101581230G>A ENST00000536262.2 - 7 1455 c.897C>T c.(895-897)ctC>ctT p.L299L NM_145913.3 NP_666018.3 Q8N695 SC5A8_HUMAN solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8 299 apoptosis|sodium ion transport apical plasma membrane|integral to membrane monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 AATATAGGGCGAGCCCACAAA 0.453000 17 28 0 0 1 0 0 ITIH6 347365 broad.mit.edu 37 X 54786195 54786195 + Missense_Mutation SNP C C T rs61735063 byFrequency TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chrX:54786195C>T ENST00000218436.6 - 7 1098 c.1069G>A c.(1069-1071)Gat>Aat p.D357N NM_198510.2 NP_940912.1 Q6UXX5 ITH5L_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 6 357 VWFA. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity TTACAGCCATCGGCTTCCATG 0.498000 15 3 0 0 1 0 0 USP6 9098 broad.mit.edu 37 17 5050466 5050466 + Missense_Mutation SNP C C T rs139533846 TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr17:5050466C>T ENST00000574788.1 + 29 4638 c.2408C>T c.(2407-2409)tCa>tTa p.S803L USP6_ENST00000332776.4_Intron|USP6_ENST00000304328.5_Missense_Mutation_p.S486L|USP6_ENST00000250066.6_Missense_Mutation_p.S803L P35125 UBP6_HUMAN ubiquitin specific peptidase 6 (Tre-2 oncogene) 803 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 TCTCCAATTTCAGCTTCTAGT 0.358000 T """COL1A1, CDH11, ZNF9, OMD""" aneurysmal bone cysts 35 19 0 0 1 0 0 FAM47A 158724 broad.mit.edu 37 X 34149336 34149336 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chrX:34149336G>A ENST00000346193.3 - 1 1111 c.1060C>T c.(1060-1062)Cct>Tct p.P354S NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 354 p.P354T(1) NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 GTCTCGGAAGGCTCCGAGCGG 0.652000 17 34 0 0 1 0 0 POU3F4 5456 broad.mit.edu 37 X 82763888 82763888 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chrX:82763888G>A ENST00000373200.2 + 1 620 c.556G>A c.(556-558)Gag>Aag p.E186K RP3-326L13.2_ENST00000607095.1_RNA NM_000307.3 NP_000298.2 P49335 PO3F4_HUMAN POU class 3 homeobox 4 186 POU-specific. sensory perception of sound nucleus sequence-specific DNA binding transcription factor activity breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 37 TCACTCCGACGAGGAGACGCC 0.602000 22 1 0 0 1 0 0 PLEKHA5 54477 broad.mit.edu 37 12 19506821 19506821 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:19506821C>T ENST00000538714.1 + 22 2703 c.2699C>T c.(2698-2700)tCc>tTc p.S900F PLEKHA5_ENST00000317589.4_Missense_Mutation_p.S905F|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.S600F|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.S824F|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.S831F|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.S786F|PLEKHA5_ENST00000299275.6_Missense_Mutation_p.S842F|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.S1008F|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.S900F NM_001143821.2 NP_001137293.2 Q9HAU0 PKHA5_HUMAN pleckstrin homology domain containing, family A member 5 842 1-phosphatidylinositol binding|protein binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804) TTTTTAGGTTCCCACTTTCCT 0.348000 19 17 0 0 1 0 0 OR8B8 26493 broad.mit.edu 37 11 124310278 124310278 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:124310278G>A ENST00000328064.2 - 1 776 c.704C>T c.(703-705)tCc>tTc p.S235F NM_012378.1 NP_036510.1 Q15620 OR8B8_HUMAN olfactory receptor, family 8, subfamily B, member 8 235 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) GAAGGCTTTGGACCTGCCCTC 0.473000 52 69 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179498800 179498800 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:179498800C>T ENST00000589042.1 - 231 42650 c.42426G>A c.(42424-42426)ctG>ctA p.L14142L TTN_ENST00000342992.6_Silent_p.L11574L|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.L12501L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.L5077L|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Silent_p.L5269L|TTN_ENST00000359218.5_Silent_p.L5202L NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 12501 Fibronectin type-III 2. 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) ACATGAATTTCAGTCTTATAC 0.363000 15 28 0 0 1 0 0 KLK4 9622 broad.mit.edu 37 19 51412005 51412005 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:51412005G>A ENST00000324041.1 - 3 304 c.305C>T c.(304-306)tCc>tTc p.S102F KLK4_ENST00000431178.2_Missense_Mutation_p.S53F NM_004917.3 NP_004908.3 Q9Y5K2 KLK4_HUMAN kallikrein-related peptidase 4 102 Peptidase S1. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8) 19 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878) GTGCCGTACGGAGAGGCTGGC 0.617000 11 45 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228547941 228547941 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:228547941G>A ENST00000284548.11 + 81 19422 c.19348G>A c.(19348-19350)Ggg>Agg p.G6450R OBSCN_ENST00000570156.2_Intron|OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000366709.4_Missense_Mutation_p.G3569R|OBSCN_ENST00000422127.1_Intron Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 0 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) ACACAGCCTTGGGGATCGTGA 0.627000 7 57 0 0 1 0 0 ZNF652 22834 broad.mit.edu 37 17 47376064 47376064 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr17:47376064G>A ENST00000362063.2 - 6 1850 c.1532C>T c.(1531-1533)tCc>tTc p.S511F ZNF652_ENST00000430262.2_Missense_Mutation_p.S511F NM_014897.2 NP_055712.1 Q9Y2D9 ZN652_HUMAN zinc finger protein 652 511 Mediates interaction with CBFA2T3.|Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 20 all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17) BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05) GGTGGCTGGGGAAGTTGTAAG 0.562000 19 45 0 0 1 0 0 BPIFB2 80341 broad.mit.edu 37 20 31598902 31598902 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr20:31598902G>A ENST00000170150.3 + 3 377 c.182G>A c.(181-183)gGa>gAa p.G61E NM_025227.1 NP_079503.1 Q8N4F0 BPIL1_HUMAN BPI fold containing family B, member 2 61 extracellular region lipid binding GACTGGAGTGGAGAGGCGCTT 0.612000 26 88 0 0 1 0 0 TRABD2A 129293 broad.mit.edu 37 2 85097363 85097363 + Silent SNP A A G TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:85097363A>G ENST00000335459.5 - 2 860 c.655T>C c.(655-657)Ttg>Ctg p.L219L TRABD2A_ENST00000409133.1_Silent_p.L219L|TRABD2A_ENST00000409520.2_Silent_p.L219L NM_001080824.1 NP_001074293.1 TraB domain containing 2A GAAAAGTTCAACCCATTCAAT 0.498000 57 127 0 0 1 0 0 SRGAP3 9901 broad.mit.edu 37 3 9166411 9166411 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:9166411G>A ENST00000383836.3 - 2 685 c.258C>T c.(256-258)ttC>ttT p.F86F SRGAP3_ENST00000360413.3_Silent_p.F86F|SRGAP3_ENST00000433332.3_5'UTR NM_014850.3 NP_055665.1 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 86 FCH. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(6) breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 OV - Ovarian serous cystadenocarcinoma(96;0.0563) CTTCTTACTTGAACTGGTGCT 0.592000 T RAF1 pilocytic astrocytoma 30 37 0 0 1 0 0 HSPG2 3339 broad.mit.edu 37 1 22206685 22206685 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:22206685G>A ENST00000374695.3 - 17 2337 c.2258C>T c.(2257-2259)cCt>cTt p.P753L NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 753 Laminin EGF-like 1; second part. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) GGGCCCACCAGGCACCCGAGT 0.602000 9 60 0 0 1 0 0 EPB41L5 57669 broad.mit.edu 37 2 120834850 120834850 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:120834850C>T ENST00000263713.5 + 9 886 c.672C>T c.(670-672)gcC>gcT p.A224A EPB41L5_ENST00000443124.1_Silent_p.A224A|EPB41L5_ENST00000443902.2_Silent_p.A224A|EPB41L5_ENST00000452780.1_Silent_p.A224A|EPB41L5_ENST00000331393.4_Silent_p.A224A NM_020909.3 NP_065960.2 Q9HCM4 E41L5_HUMAN erythrocyte membrane protein band 4.1 like 5 224 FERM. cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1) 26 TGAATAAAGCCAAATGGCTAG 0.318000 35 28 0 0 1 0 0 DPCR1 135656 broad.mit.edu 37 6 30920202 30920202 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:30920202C>T ENST00000462446.1 + 2 3989 c.3961C>T c.(3961-3963)Cct>Tct p.P1321S DPCR1_ENST00000304311.2_Missense_Mutation_p.P163S|HCG21_ENST00000419481.1_RNA Q3MIW9 DPCR1_HUMAN diffuse panbronchiolitis critical region 1 445 integral to membrane endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1) 10 TGATTCATTCCCTGCATGGGC 0.502000 34 55 0 0 1 0 0 EIF4G1 1981 broad.mit.edu 37 3 184039114 184039114 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:184039114C>T ENST00000342981.4 + 9 1156 c.742C>T c.(742-744)Cct>Tct p.P248S EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000427845.1_Missense_Mutation_p.P161S|EIF4G1_ENST00000434061.2_Missense_Mutation_p.P52S|EIF4G1_ENST00000319274.6_Missense_Mutation_p.P248S|EIF4G1_ENST00000411531.1_Missense_Mutation_p.P208S|EIF4G1_ENST00000346169.2_Missense_Mutation_p.P248S|EIF4G1_ENST00000382330.3_Missense_Mutation_p.P255S|EIF4G1_ENST00000414031.1_Missense_Mutation_p.P208S|EIF4G1_ENST00000424196.1_Missense_Mutation_p.P255S|EIF4G1_ENST00000350481.5_Missense_Mutation_p.P84S|EIF4G1_ENST00000435046.2_Missense_Mutation_p.P52S|EIF4G1_ENST00000441154.1_Missense_Mutation_p.P84S|EIF4G1_ENST00000392537.2_Missense_Mutation_p.P161S|EIF4G1_ENST00000352767.3_Missense_Mutation_p.P255S NM_182917.4 NP_886553.3 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 gamma, 1 248 insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 75 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GCCAGGGCTGCCTGGCCCAGA 0.567000 34 89 0 0 1 0 0 LCE2C 353140 broad.mit.edu 37 1 152648614 152648614 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:152648614C>T ENST00000368783.1 + 2 178 c.123C>T c.(121-123)ttC>ttT p.F41F LCE2B_ENST00000417924.2_Intron NM_178429.2 NP_848516.1 Q5TA81 LCE2C_HUMAN late cornified envelope 2C 41 Cys-rich. keratinization endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1) 13 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CTCCATGTTTCCCTGCAGTCT 0.627000 36 198 0 0 1 0 0 GNAT1 2779 broad.mit.edu 37 3 50232275 50232275 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:50232275G>A ENST00000232461.3 + 8 1054 c.940G>A c.(940-942)Gag>Aag p.E314K GNAT1_ENST00000433068.1_Missense_Mutation_p.E314K NM_144499.2 NP_653082.1 P11488 GNAT1_HUMAN guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1 314 detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane acyl binding|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|protein kinase binding|signal transducer activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) CGACGTGAAGGAGATCTATTC 0.567000 OREG0015580 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 45 0 0 1 0 0 CBLN2 147381 broad.mit.edu 37 18 70205951 70205951 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr18:70205951C>T ENST00000269503.4 - 4 1187 c.414G>A c.(412-414)ccG>ccA p.P138P CBLN2_ENST00000583651.1_5'UTR|CBLN2_ENST00000585159.1_Silent_p.P138P|CBLN2_ENST00000581073.1_Silent_p.P24P|CBLN2_ENST00000584764.1_Silent_p.P22P NM_182511.3 NP_872317.1 Q8IUK8 CBLN2_HUMAN cerebellin 2 precursor 138 C1q. integral to membrane endometrium(2)|lung(15) 17 Esophageal squamous(42;0.131) TCCCTTTTCTCGGTGCTACAA 0.428000 27 43 0 0 1 0 0 MOXD1 26002 broad.mit.edu 37 6 132694079 132694079 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:132694079G>A ENST00000367963.3 - 3 587 c.469C>T c.(469-471)Ccc>Tcc p.P157S MOXD1_ENST00000336749.3_Missense_Mutation_p.P89S NM_015529.2 NP_056344.2 Q6UVY6 MOXD1_HUMAN monooxygenase, DBH-like 1 157 catecholamine metabolic process endoplasmic reticulum membrane|integral to membrane copper ion binding|dopamine beta-monooxygenase activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1) 37 Breast(56;0.0495) OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191) TGGTACTTGGGACCAGCTTCT 0.483000 19 66 0 0 1 0 0 MIA3 375056 broad.mit.edu 37 1 222823646 222823646 + Missense_Mutation SNP A A G TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:222823646A>G ENST00000344922.5 + 9 3669 c.3644A>G c.(3643-3645)cAa>cGa p.Q1215R MIA3_ENST00000344441.6_Missense_Mutation_p.Q1215R|MIA3_ENST00000340535.7_Missense_Mutation_p.Q93R|MIA3_ENST00000344507.1_Intron NM_198551.2 NP_940953.2 Q5JRA6 MIA3_HUMAN melanoma inhibitory activity family, member 3 1215 exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing endoplasmic reticulum membrane|integral to membrane protein binding breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1) 80 GBM - Glioblastoma multiforme(131;0.0199) ACGGAACAGCAAATTTCTGAG 0.274000 12 6 0 0 1 0 0 CFHR4 10877 broad.mit.edu 37 1 196874364 196874364 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:196874364C>T ENST00000367416.2 + 3 517 c.380C>T c.(379-381)tCt>tTt p.S127F CFHR4_ENST00000251424.4_Intron|CFHR4_ENST00000367418.1_Intron|CFHR2_ENST00000367421.3_Intron NM_001201550.2|NM_001201551.1 NP_001188479.1|NP_001188480.1 complement factor H-related 4 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 36 GAGGGAAATTCTTCAGGATCA 0.308000 84 42 0 0 1 0 0 SCN1A 6323 broad.mit.edu 37 2 166870396 166870396 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:166870396C>T ENST00000423058.2 - 18 3580 c.3563G>A c.(3562-3564)aGa>aAa p.R1188K AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.R1160K|SCN1A_ENST00000375405.3_Missense_Mutation_p.R1177K|SCN1A_ENST00000303395.4_Missense_Mutation_p.R1188K NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 1188 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) ACACTTGAATCTTTGTACACA 0.378000 42 62 0 0 1 0 0 ACACA 31 broad.mit.edu 37 17 35634798 35634798 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr17:35634798G>A ENST00000353139.5 - 6 1192 c.711C>T c.(709-711)atC>atT p.I237I ACACA_ENST00000360679.3_Silent_p.I142I|ACACA_ENST00000394406.2_Silent_p.I200I|ACACA_ENST00000335166.5_Silent_p.I122I NM_198834.1|NM_198839.1 NP_942131.1|NP_942136.1 Q13085 ACACA_HUMAN acetyl-CoA carboxylase alpha 200 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) CTTGTACTGGGATCCTTTTAG 0.368000 14 24 0 0 1 0 0 C3 718 broad.mit.edu 37 19 6694443 6694443 + Splice_Site SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:6694443C>T ENST00000245907.6 - 24 3245 c.3154_splice c.e24+1 p.K1051_splice NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 1051 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) GGAGCCCACCCTTCTTGATGA 0.622000 12 35 0 0 1 0 0 AKAP3 10566 broad.mit.edu 37 12 4736883 4736883 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:4736883C>T ENST00000545990.2 - 5 1709 c.1185G>A c.(1183-1185)agG>agA p.R395R AKAP3_ENST00000228850.1_Silent_p.R395R NM_001278309.1 NP_001265238.1 O75969 AKAP3_HUMAN A kinase (PRKA) anchor protein 3 395 acrosome reaction|cellular component movement acrosomal vesicle protein kinase A binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 51 CTTGGGCTTTCCTGACATGCT 0.433000 36 43 0 0 1 0 0 GNAS 2778 broad.mit.edu 37 20 57429101 57429101 + Missense_Mutation SNP T T A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr20:57429101T>A ENST00000371100.4 + 1 1333 c.781T>A c.(781-783)Tcg>Acg p.S261T GNAS_ENST00000306120.3_Silent_p.P197P|GNAS_ENST00000603534.1_Intron|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.S261T|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371102.4_Missense_Mutation_p.S261T|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371075.3_Intron NM_001077490.1|NM_080425.2 NP_001070958.1|NP_536350.2 P63092 GNAS2_HUMAN GNAS complex locus 0 activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1) 441 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) AGTCGCGGCCTCGAGTGCGGT 0.667000 Mis pituitary adenoma """McCune-Albright syndrome; pseudohypoparathyroidism, type IA""" TSP Lung(22;0.16) 19 13 0 0 1 0 0 SOCS1 8651 broad.mit.edu 37 16 11348858 11348858 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr16:11348858G>A ENST00000332029.2 - 2 628 c.478C>T c.(478-480)Cgc>Tgc p.R160C RMI2_ENST00000572173.1_Intron NM_003745.1 NP_003736.1 O15524 SOCS1_HUMAN suppressor of cytokine signaling 1 160 SH2. interferon-gamma-mediated signaling pathway|JAK-STAT cascade|negative regulation of insulin receptor signaling pathway|negative regulation of tyrosine phosphorylation of Stat3 protein|regulation of growth|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytosol insulin-like growth factor receptor binding|protein kinase binding|protein kinase inhibitor activity p.F144fs*34(1)|p.Y64fs*1(1)|p.R127_*212del(1)|p.0?(1)|p.P158_M161del(1) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(66)|lung(3) 71 CCCAGCATGCGGCGCGGCGCC 0.736000 """F, O""" """Hodgkin Lymphoma, PMBL""" 5 16 0 0 1 0 0 CEACAM8 1088 broad.mit.edu 37 19 43092991 43092991 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:43092991G>A ENST00000244336.5 - 4 1004 c.903C>T c.(901-903)acC>acT p.T301T CEACAM8_ENST00000599005.1_Intron|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA NM_001816.3 NP_001807.2 P31997 CEAM8_HUMAN carcinoembryonic antigen-related cell adhesion molecule 8 301 Ig-like C2-type 2. immune response anchored to membrane|extracellular space|integral to plasma membrane endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 16 Prostate(69;0.00899) CTGAGTTAGTGGTGTGGCAGG 0.488000 38 66 0 0 1 0 0 LAPTM5 7805 broad.mit.edu 37 1 31212743 31212743 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:31212743G>A ENST00000294507.3 - 4 374 c.300C>T c.(298-300)atC>atT p.I100I NM_006762.2 NP_006753.1 Q13571 LAPM5_HUMAN lysosomal protein transmembrane 5 100 transport integral to plasma membrane|lysosomal membrane large_intestine(2)|lung(7)|skin(1) 10 Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192) STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649) GATAGTCCATGATTTGCAGGG 0.612000 5 36 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38739366 38739366 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:38739366C>T ENST00000449082.2 - 27 5344 c.5345G>A c.(5344-5346)cGa>cAa p.R1782Q NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1782 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) CAGTATATTTCGATTGGGTTT 0.473000 7 59 0 0 1 0 0 GPX5 2880 broad.mit.edu 37 6 28500114 28500114 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:28500114G>A ENST00000412168.2 + 4 465 c.376G>A c.(376-378)Gga>Aga p.G126R GPX5_ENST00000469384.1_Silent_p.G86G|GPX5_ENST00000442674.2_3'UTR NM_001509.2 NP_001500.1 O75715 GPX5_HUMAN glutathione peroxidase 5 (epididymal androgen-related protein) 126 lipid metabolic process|response to oxidative stress extracellular region glutathione peroxidase activity endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Glutathione(DB00143) CCGTCCAGGGGGAGGATTTGT 0.428000 48 81 0 0 1 0 0 CCDC174 51244 broad.mit.edu 37 3 14712622 14712622 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:14712622C>T ENST00000383794.3 + 11 1398 c.1325C>T c.(1324-1326)cCc>cTc p.P442L CCDC174_ENST00000303688.7_Missense_Mutation_p.P366L NM_016474.4 NP_057558.3 coiled-coil domain containing 174 ACTCCTGCCCCCGACAACCCA 0.542000 27 45 0 0 1 0 0 OR5K1 26339 broad.mit.edu 37 3 98188467 98188467 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:98188467G>A ENST00000332650.5 + 1 144 c.47G>A c.(46-48)gGa>gAa p.G16E NM_001004736.2 NP_001004736.2 Q8NHB7 OR5K1_HUMAN olfactory receptor, family 5, subfamily K, member 1 16 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 ATCCTCACAGGATTTACAGAT 0.388000 48 78 0 0 1 0 0 HMHA1 23526 broad.mit.edu 37 19 1068708 1068708 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:1068708G>A ENST00000313093.2 + 2 617 c.386G>A c.(385-387)gGc>gAc p.G129D HMHA1_ENST00000590214.1_Missense_Mutation_p.G156D|HMHA1_ENST00000536472.1_Intron|HMHA1_ENST00000539243.2_Missense_Mutation_p.G145D|HMHA1_ENST00000586866.1_Missense_Mutation_p.G133D NM_012292.3 NP_036424.2 Q92619 HMHA1_HUMAN histocompatibility (minor) HA-1 129 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2) 16 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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) TTCGCTGAGGGCCTTGAGAAA 0.672000 39 47 0 0 1 0 0 DGCR2 9993 broad.mit.edu 37 22 19028787 19028787 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr22:19028787G>A ENST00000263196.7 - 9 1427 c.1180C>T c.(1180-1182)Cgc>Tgc p.R394C DGCR2_ENST00000545799.1_3'UTR|DGCR2_ENST00000537045.1_Missense_Mutation_p.R353C NM_001184781.1|NM_005137.2 NP_001171710.1|NP_005128.1 P98153 IDD_HUMAN DiGeorge syndrome critical region gene 2 394 cell adhesion|organ morphogenesis integral to membrane receptor activity|sugar binding breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1) 18 Colorectal(54;0.0993) GGGATCCTGCGGCCGAGGTTG 0.622000 25 44 0 0 1 0 0 RDX 5962 broad.mit.edu 37 11 110104138 110104138 + Missense_Mutation SNP G G A rs138560358 byFrequency TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:110104138G>A ENST00000343115.4 - 13 1730 c.1411C>T c.(1411-1413)Cct>Tct p.P471S RDX_ENST00000544551.1_Missense_Mutation_p.P335S|RDX_ENST00000530301.1_Intron|RDX_ENST00000528498.1_Missense_Mutation_p.P471S|RDX_ENST00000528900.1_Missense_Mutation_p.P124S|RDX_ENST00000405097.1_Missense_Mutation_p.P471S NM_001260494.1|NM_002906.3 NP_001247423.1|NP_002897.1 P35241 RADI_HUMAN radixin 471 Glu-rich.|Poly-Pro. actin filament capping cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane actin binding endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1) 18 all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248) GGAGGTGGAGGGGGGGCAGAC 0.428000 45 84 0 0 1 0 0 HCRTR2 3062 broad.mit.edu 37 6 55119933 55119933 + Splice_Site SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:55119933G>A ENST00000370862.3 + 3 738 c.e3-1 NM_001526.3 NP_001517.2 O43614 OX2R_HUMAN hypocretin (orexin) receptor 2 feeding behavior integral to plasma membrane neuropeptide receptor activity breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) CTTTTCTCTAGACCGTGTCGG 0.403000 32 16 0 0 1 0 0 CXCL9 4283 broad.mit.edu 37 4 76924771 76924771 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr4:76924771G>A ENST00000264888.5 - 4 396 c.358C>T c.(358-360)Cgt>Tgt p.R120C RP11-630D6.5_ENST00000501239.2_RNA NM_002416.1 NP_002407.1 Q07325 CXCL9_HUMAN chemokine (C-X-C motif) ligand 9 120 cell-cell signaling|cellular defense response|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response extracellular space chemokine activity large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(1) 11 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) TTCTTTTGACGAGAACGTTGA 0.348000 26 23 0 0 1 0 0 UNC13A 23025 broad.mit.edu 37 19 17753740 17753740 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:17753740C>T ENST00000428389.2 - 21 2649 c.2650G>A c.(2650-2652)Ggt>Agt p.G884S UNC13A_ENST00000552293.1_Missense_Mutation_p.G796S|UNC13A_ENST00000551649.1_Missense_Mutation_p.G796S|UNC13A_ENST00000550896.1_Missense_Mutation_p.G794S|UNC13A_ENST00000252773.7_Missense_Mutation_p.G796S|UNC13A_ENST00000519716.2_Missense_Mutation_p.G796S Q9UPW8 UN13A_HUMAN unc-13 homolog A (C. elegans) 796 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2) 61 CGGATGGCACCCGACACGGCA 0.507000 5 11 0 0 1 0 0 PLEKHA8P1 51054 broad.mit.edu 37 12 45567046 45567046 + RNA SNP A A G TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:45567046A>G ENST00000256692.5 - 0 1639 NR_037144.1 breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 CTGCATCCCAATACTGAAAGC 0.498000 18 50 0 0 1 0 0 SYNJ2 8871 broad.mit.edu 37 6 158497676 158497676 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:158497676G>A ENST00000355585.4 + 17 2386 c.2311G>A c.(2311-2313)Gaa>Aaa p.E771K SYNJ2_ENST00000367121.3_Missense_Mutation_p.E771K|SYNJ2_ENST00000367122.2_Missense_Mutation_p.E771K NM_001178088.1|NM_003898.3 NP_001171559.1|NP_003889.1 O15056 SYNJ2_HUMAN synaptojanin 2 771 nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) GGACTTTCACGAAGGAGCCAT 0.463000 52 49 0 0 1 0 0 GLRA3 8001 broad.mit.edu 37 4 175688129 175688129 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr4:175688129G>A ENST00000274093.3 - 3 754 c.252C>T c.(250-252)atC>atT p.I84I GLRA3_ENST00000340217.5_Silent_p.I84I NM_006529.2 NP_006520.2 O75311 GLRA3_HUMAN glycine receptor, alpha 3 84 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 35 Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107) all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421) Glycine(DB00145) TCGTCTCTGCGATAGAGCCAA 0.358000 9 50 0 0 1 0 0 TUBA8 51807 broad.mit.edu 37 22 18613784 18613784 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr22:18613784G>A ENST00000330423.3 + 5 1304 c.1231G>A c.(1231-1233)Gag>Aag p.E411K TUBA8_ENST00000316027.6_Missense_Mutation_p.E345K NM_018943.2 NP_061816.1 Q9NY65 TBA8_HUMAN tubulin, alpha 8 411 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1) 14 GTATGTGGGAGAGGGGATGGA 0.542000 37 52 0 0 1 0 0 PLA2G15 23659 broad.mit.edu 37 16 68289196 68289196 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr16:68289196C>T ENST00000219345.5 + 4 498 c.415C>T c.(415-417)Cac>Tac p.H139Y PLA2G15_ENST00000566188.1_Missense_Mutation_p.H139Y|PLA2G15_ENST00000413021.2_Silent_p.S86S|PLA2G15_ENST00000444212.2_Intron NM_012320.3 NP_036452.1 Q8NCC3 PAG15_HUMAN phospholipase A2, group XV 139 fatty acid catabolic process extracellular region|lysosome lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1) 12 TTCCTATTTCCACACCATGGT 0.557000 20 23 0 0 1 0 0 OR4X2 119764 broad.mit.edu 37 11 48267036 48267036 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:48267036C>T ENST00000302329.3 + 1 429 c.381C>T c.(379-381)atC>atT p.I127I NM_001004727.1 NP_001004727.1 Q8NGF9 OR4X2_HUMAN olfactory receptor, family 4, subfamily X, member 2 127 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1) 20 ACACCACCATCATGAACTGGC 0.498000 48 55 0 0 1 0 0 PPP1R1A 5502 broad.mit.edu 37 12 54975916 54975916 + Splice_Site SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:54975916C>T ENST00000257905.8 - 5 418 c.e5-1 PPP1R1A_ENST00000547431.1_Intron NM_006741.3 NP_006732.3 Q13522 PPR1A_HUMAN protein phosphatase 1, regulatory (inhibitor) subunit 1A glycogen metabolic process|signal transduction protein binding|protein serine/threonine phosphatase inhibitor activity lung(2) 2 ATCTGGAGCTCTGGGGACACA 0.592000 3 12 0 0 1 0 0 PLA2R1 22925 broad.mit.edu 37 2 160876730 160876730 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:160876730G>A ENST00000283243.7 - 8 1545 c.1339C>T c.(1339-1341)Cca>Tca p.P447S PLA2R1_ENST00000392771.1_Missense_Mutation_p.P447S NM_001195641.1|NM_007366.4 NP_001182570.1|NP_031392.3 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1, 180kDa 447 C-type lectin 2. endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 AAGGAAACTGGAATTTTATTG 0.363000 18 21 0 0 1 0 0 GBP1 2633 broad.mit.edu 37 1 89520410 89520410 + Silent SNP G G T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:89520410G>T ENST00000370473.4 - 10 1839 c.1620C>A c.(1618-1620)gtC>gtA p.V540V GBP1_ENST00000484970.1_5'UTR NM_002053.2 NP_002044.2 P32455 GBP1_HUMAN guanylate binding protein 1, interferon-inducible 540 interferon-gamma-mediated signaling pathway plasma membrane GTP binding|GTPase activity endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 30 Lung NSC(277;0.123) all cancers(265;0.0156)|Epithelial(280;0.0291) TCAGCAACTGGACCCTGTCGT 0.433000 265 117 2.53866e-96 2.5793e-96 1 1 0 LRP1B 53353 broad.mit.edu 37 2 141460033 141460033 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:141460033C>T ENST00000389484.3 - 38 7084 c.6113G>A c.(6112-6114)gGa>gAa p.G2038E NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 2038 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) CCATGCTATTCCCATGCTTAC 0.423000 TSP Lung(27;0.18) 21 39 0 0 1 0 0 RMDN2 151393 broad.mit.edu 37 2 38201340 38201340 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:38201340C>T ENST00000407257.1 + 3 1291 c.1144C>T c.(1144-1146)Cgt>Tgt p.R382C RMDN2_ENST00000354545.2_Missense_Mutation_p.R204C|RMDN2_ENST00000406384.1_Missense_Mutation_p.R204C|RMDN2_ENST00000234195.3_Missense_Mutation_p.R382C|RMDN2_ENST00000417700.2_Missense_Mutation_p.R59C|RMDN2-AS1_ENST00000414365.2_RNA regulator of microtubule dynamics 2 TGAACTACTTCGTGACCACAA 0.338000 15 18 0 0 1 0 0 XCR1 2829 broad.mit.edu 37 3 46063269 46063269 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:46063269C>T ENST00000309285.3 - 2 527 c.171G>A c.(169-171)gtG>gtA p.V57V XCR1_ENST00000542109.1_Silent_p.V57V NM_001024644.1 NP_001019815.1 P46094 XCR1_HUMAN chemokine (C motif) receptor 1 57 chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response integral to plasma membrane chemokine receptor activity NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2) 14 BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203) TCTCATACTTCACCAGGACCC 0.572000 30 31 0 0 1 0 0 EDC4 23644 broad.mit.edu 37 16 67913599 67913599 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr16:67913599C>T ENST00000358933.5 + 15 1982 c.1743C>T c.(1741-1743)ttC>ttT p.F581F EDC4_ENST00000574770.1_3'UTR NM_014329.4 NP_055144.3 Q6P2E9 EDC4_HUMAN enhancer of mRNA decapping 4 581 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) CTGCCGACTTCCTCAGTCTGA 0.632000 68 95 0 0 1 0 0 TMPRSS9 360200 broad.mit.edu 37 19 2408441 2408441 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:2408441C>T ENST00000332578.3 + 7 828 c.828C>T c.(826-828)gtC>gtT p.V276V NM_182973.1 NP_892018.1 Q7Z410 TMPS9_HUMAN transmembrane protease, serine 9 276 Peptidase S1 1. proteolysis integral to plasma membrane serine-type endopeptidase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 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) CCCAGGTGGTCCAGATCGTCA 0.657000 62 71 0 0 1 0 0 SNAP91 9892 broad.mit.edu 37 6 84292048 84292048 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:84292048G>A ENST00000428679.2 - 23 2635 c.2042C>T c.(2041-2043)tCc>tTc p.S681F SNAP91_ENST00000521743.1_Missense_Mutation_p.S681F|SNAP91_ENST00000521485.1_Missense_Mutation_p.S681F|SNAP91_ENST00000369694.2_Missense_Mutation_p.S681F|SNAP91_ENST00000195649.6_Missense_Mutation_p.S681F|SNAP91_ENST00000437520.1_Missense_Mutation_p.S374F|SNAP91_ENST00000520213.1_Missense_Mutation_p.S374F|SNAP91_ENST00000439399.2_Missense_Mutation_p.S681F|SNAP91_ENST00000520302.1_Missense_Mutation_p.S651F O60641 AP180_HUMAN synaptosomal-associated protein, 91kDa 681 clathrin coat assembly clathrin coat|coated pit|plasma membrane 1-phosphatidylinositol binding|clathrin binding breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0967) TGGAGATGGGGAAGGCGCCAT 0.433000 9 40 0 0 1 0 0 AXDND1 126859 broad.mit.edu 37 1 179437688 179437688 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:179437688G>A ENST00000367618.3 + 17 2296 c.1909G>A c.(1909-1911)Gaa>Aaa p.E637K AXDND1_ENST00000457238.2_3'UTR|AXDND1_ENST00000461179.2_3'UTR NM_144696.4 NP_653297.3 Q5T1B0 AXDN1_HUMAN axonemal dynein light chain domain containing 1 637 NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 59 GGAAATAGATGAAAAAATTAA 0.353000 37 21 0 0 1 0 0 CCDC57 284001 broad.mit.edu 37 17 80085758 80085758 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr17:80085758G>A ENST00000392347.1 - 16 2412 c.2376C>T c.(2374-2376)acC>acT p.T792T CCDC57_ENST00000392346.2_Silent_p.T149T|CCDC57_ENST00000389641.4_Silent_p.T792T NM_198082.2 NP_932348.2 Q2TAC2 CCD57_HUMAN coiled-coil domain containing 57 792 endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1) 16 Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227) BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253) GTGATTTACAGGTCACCGTGT 0.572000 44 41 0 0 1 0 0 NCAPG 64151 broad.mit.edu 37 4 17826621 17826621 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr4:17826621C>T ENST00000251496.2 + 10 1590 c.1414C>T c.(1414-1416)Ccc>Tcc p.P472S NM_022346.3 NP_071741.2 Q9BPX3 CND3_HUMAN non-SMC condensin I complex, subunit G 472 cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus protein binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 27 STAD - Stomach adenocarcinoma(129;0.18) GATTCGGGCGCCCATTGTTAC 0.328000 23 10 0 0 1 0 0 NLRP5 126206 broad.mit.edu 37 19 56539859 56539859 + Missense_Mutation SNP C C G TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:56539859C>G ENST00000390649.3 + 7 2260 c.2260C>G c.(2260-2262)Cct>Gct p.P754A NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 754 mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) TGAGGCATGTCCTGTGGTCCC 0.522000 52 79 0 0 1 0 0 TRPC7 57113 broad.mit.edu 37 5 135692306 135692306 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:135692306G>A ENST00000513104.1 - 2 1052 c.770C>T c.(769-771)aCt>aTt p.T257I TRPC7_ENST00000426057.2_Missense_Mutation_p.T257I|TRPC7_ENST00000355180.3_Missense_Mutation_p.T257I NM_020389.2 NP_065122.1 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, subfamily C, member 7 257 axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3) 46 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CTTAAATTCAGTCTCAATGTT 0.542000 6 16 0 0 1 0 0 CCDC102B 79839 broad.mit.edu 37 18 66564554 66564554 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr18:66564554G>A ENST00000360242.5 + 6 1269 c.1152G>A c.(1150-1152)aaG>aaA p.K384K CCDC102B_ENST00000319445.6_Silent_p.K384K|CCDC102B_ENST00000358653.5_Silent_p.K384K|CCDC102B_ENST00000584156.1_Silent_p.K384K|CCDC102B_ENST00000577772.1_3'UTR NM_024781.2 NP_079057.2 Q68D86 C102B_HUMAN coiled-coil domain containing 102B 384 breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1) 36 Esophageal squamous(42;0.0559)|Colorectal(73;0.0604) GAAGGCTGAAGATCCAGGTGA 0.398000 56 63 0 0 1 0 0 ZNF852 285346 broad.mit.edu 37 3 44540638 44540638 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:44540638C>T ENST00000436261.1 - 4 1791 c.1631G>A c.(1630-1632)tGa>tAa p.*544* B6EU87 B6EU87_HUMAN zinc finger protein 852 0 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding endometrium(2)|kidney(1)|lung(5) 8 CAGCTTAACTCAAAGGTCTTT 0.458000 3 8 0 0 1 0 0 ARHGAP36 158763 broad.mit.edu 37 X 130217164 130217164 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chrX:130217164C>T ENST00000276211.5 + 3 624 c.279C>T c.(277-279)acC>acT p.T93T ARHGAP36_ENST00000370922.1_Silent_p.T81T NM_144967.3 NP_659404.2 Q6ZRI8 RHG36_HUMAN Rho GTPase activating protein 36 93 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2) 71 GTCCGAACACCTTGGATAAGT 0.413000 39 7 0 0 1 0 0 RAP1GAP2 23108 broad.mit.edu 37 17 2911389 2911389 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr17:2911389G>A ENST00000254695.8 + 17 1534 c.1444G>A c.(1444-1446)Gag>Aag p.E482K RAP1GAP2_ENST00000542807.1_Missense_Mutation_p.E482K|RAP1GAP2_ENST00000366401.4_Missense_Mutation_p.E467K|RAP1GAP2_ENST00000540393.2_Missense_Mutation_p.E463K NM_015085.4 NP_055900.4 Q684P5 RPGP2_HUMAN RAP1 GTPase activating protein 2 482 regulation of small GTPase mediated signal transduction centrosome|cytosol|perinuclear region of cytoplasm GTPase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 11 GGGCCCAGAGGAGGACAAGTT 0.592000 26 21 0 0 1 0 0 LINC00359 100887754 broad.mit.edu 37 13 97600346 97600346 + RNA SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr13:97600346C>T ENST00000442322.1 - 0 171 GAAATGTCTTCTGATTTTCTT 0.393000 7 11 0 0 1 0 0 FNDC1 84624 broad.mit.edu 37 6 159687216 159687216 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:159687216C>T ENST00000297267.9 + 21 5585 c.5385C>T c.(5383-5385)ttC>ttT p.F1795F FNDC1_ENST00000340366.6_Silent_p.F1732F NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 1795 extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) ATCGAAAGTTCGTGGGAGTTG 0.473000 51 52 0 0 1 0 0 KLK2 3817 broad.mit.edu 37 19 51380002 51380002 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:51380002G>A ENST00000325321.3 + 3 706 c.481G>A c.(481-483)Gaa>Aaa p.E161K KLK2_ENST00000391810.2_Missense_Mutation_p.E59K|KLK2_ENST00000358049.4_Missense_Mutation_p.E161K P20151 KLK2_HUMAN kallikrein-related peptidase 2 161 Peptidase S1. proteolysis serine-type endopeptidase activity KLK2/ETV1(3)|KLK2/ETV4(2) large_intestine(3)|lung(6)|ovary(1)|skin(1) 11 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871) GGGCAGCATCGAACCAGAGGA 0.642000 T ETV4 prostate 7 22 0 0 1 0 0 IL17C 27189 broad.mit.edu 37 16 88705706 88705706 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr16:88705706C>T ENST00000244241.4 + 2 373 c.324C>T c.(322-324)ccC>ccT p.P108P NM_013278.3 NP_037410.1 Q9P0M4 IL17C_HUMAN interleukin 17C 108 cell surface receptor linked signaling pathway|cell-cell signaling|inflammatory response extracellular space|soluble fraction cytokine activity large_intestine(1)|lung(1) 2 BRCA - Breast invasive adenocarcinoma(80;0.0477) CCATCTCACCCTGGAGATACC 0.701000 8 25 0 0 1 0 0 TRPC6 7225 broad.mit.edu 37 11 101344500 101344500 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:101344500C>T ENST00000344327.3 - 7 2173 c.1749G>A c.(1747-1749)agG>agA p.R583R TRPC6_ENST00000348423.4_Silent_p.R467R|TRPC6_ENST00000532133.1_Silent_p.R505R|TRPC6_ENST00000360497.4_Silent_p.R528R NM_004621.5 NP_004612.2 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, subfamily C, member 6 583 axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) CCCACTTTATCCTGGCTAGGA 0.333000 15 50 0 0 1 0 0 SERPINA7 6906 broad.mit.edu 37 X 105277523 105277523 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chrX:105277523G>A ENST00000327674.4 - 4 1551 c.1216C>T c.(1216-1218)Cta>Tta p.L406L SERPINA7_ENST00000372563.1_Silent_p.L406L P05543 THBG_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 406 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3) 24 Levothyroxine(DB00451)|Liothyronine(DB00279) ACTTTCCCTAGAAAGAGAATA 0.388000 44 75 0 0 1 0 0 LILRA2 11027 broad.mit.edu 37 19 55086445 55086445 + Silent SNP G G A rs141931276 TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:55086445G>A ENST00000251377.3 + 5 733 c.600G>A c.(598-600)tcG>tcA p.S200S LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000251376.3_Silent_p.S200S|LILRA2_ENST00000391737.1_Silent_p.S188S|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391738.3_Silent_p.S200S leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 GBM - Glioblastoma multiforme(193;0.0963) CTTATGACTCGAACTCTCCCT 0.577000 38 94 0 0 1 0 0 PDGFRA 5156 broad.mit.edu 37 4 55146569 55146569 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr4:55146569G>A ENST00000257290.5 + 16 2574 c.2243G>A c.(2242-2244)aGg>aAg p.R748K FIP1L1_ENST00000507166.1_Missense_Mutation_p.R508K NM_006206.4 NP_006197.1 P16234 PGFRA_HUMAN platelet-derived growth factor receptor, alpha polypeptide 748 Protein kinase. cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) ATGCTAGAAAGGAAAGAGGTT 0.368000 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) 23 16 0 0 1 0 0 TLL1 7092 broad.mit.edu 37 4 166924569 166924569 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr4:166924569G>A ENST00000061240.2 + 6 1306 c.659G>A c.(658-660)gGa>gAa p.G220E TLL1_ENST00000513213.1_Missense_Mutation_p.G220E|TLL1_ENST00000507499.1_Missense_Mutation_p.G220E NM_012464.4 NP_036596.3 O43897 TLL1_HUMAN tolloid-like 1 220 Metalloprotease (By similarity). cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) GGTCGGCGAGGAAATGGACCT 0.438000 47 21 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176760566 176760566 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:176760566C>T ENST00000367662.3 + 19 6132 c.4968C>T c.(4966-4968)ccC>ccT p.P1656P NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1656 Poly-Pro.|Sushi 5. 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 GCCCACCACCCCCCTCAGAGC 0.428000 42 23 0 0 1 0 0 VPRBP 9730 broad.mit.edu 37 3 51458162 51458162 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:51458162G>A ENST00000335891.5 - 7 924 c.915C>T c.(913-915)atC>atT p.I305I Q9Y4B6 VPRBP_HUMAN Vpr (HIV-1) binding protein 754 interspecies interaction between organisms cytoplasm|nucleus protein binding breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875) CCAGGGCCCGGATTTGGTCTG 0.557000 27 139 0 0 1 0 0 BRINP3 339479 broad.mit.edu 37 1 190067958 190067958 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:190067958C>T ENST00000367462.3 - 8 1722 c.1491G>A c.(1489-1491)atG>atA p.M497I FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.M395I NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 497 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) GCAGATATTTCATCTCGAGAT 0.498000 142 70 0 0 1 0 0 IDO1 3620 broad.mit.edu 37 8 39781028 39781028 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:39781028G>A ENST00000518237.1 + 7 1217 c.578G>A c.(577-579)cGg>cAg p.R193Q RP11-44K6.3_ENST00000517623.1_RNA|IDO1_ENST00000522495.1_Missense_Mutation_p.R193Q NM_002164.5 NP_002155.1 P14902 I23O1_HUMAN indoleamine 2,3-dioxygenase 1 193 female pregnancy|tryptophan catabolic process cytosol electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2) 12 L-Tryptophan(DB00150) ATGCAAGAACGGGACACTTTG 0.373000 3 23 0 0 1 0 0 DMP1 1758 broad.mit.edu 37 4 88584383 88584383 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr4:88584383G>A ENST00000339673.6 + 6 1552 c.1453G>A c.(1453-1455)Gag>Aag p.E485K DMP1_ENST00000282479.7_Missense_Mutation_p.E469K|RP11-742B18.1_ENST00000507894.1_RNA|RP11-742B18.1_ENST00000506480.1_RNA NM_004407.3 NP_004398.1 Q13316 DMP1_HUMAN dentin matrix acidic phosphoprotein 1 485 biomineral tissue development|ossification cytoplasm|nucleus|proteinaceous extracellular matrix calcium ion binding|integrin binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1) 32 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227) OV - Ovarian serous cystadenocarcinoma(123;0.000516) GAAAAACATTGAGATAGAGAG 0.463000 114 65 0 0 1 0 0 BTF3 689 broad.mit.edu 37 5 72800226 72800226 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:72800226C>T ENST00000380591.3 + 5 791 c.572C>T c.(571-573)cCa>cTa p.P191L BTF3_ENST00000335895.8_Missense_Mutation_p.P147L|BTF3_ENST00000514505.2_3'UTR NM_001037637.1 NP_001032726.1 P20290 BTF3_HUMAN basic transcription factor 3 191 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding endometrium(1)|large_intestine(2)|lung(2) 5 Lung NSC(167;0.00405)|Ovarian(174;0.0175) OV - Ovarian serous cystadenocarcinoma(47;2.73e-54) GATGAAGTTCCAGGTAGGAAC 0.383000 19 12 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228881601 228881601 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:228881601G>A ENST00000392056.3 - 7 4015 c.3969C>T c.(3967-3969)atC>atT p.I1323I SPHKAP_ENST00000344657.5_Silent_p.I1323I NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 1323 cytoplasm protein binding p.I1323I(1) 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) CATCCACAATGATTTTGTTCT 0.493000 20 42 0 0 1 0 0 FBXL7 23194 broad.mit.edu 37 5 15936912 15936912 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:15936912G>A ENST00000504595.1 + 4 1574 c.1093G>A c.(1093-1095)Gac>Aac p.D365N FBXL7_ENST00000329673.7_Missense_Mutation_p.D353N|FBXL7_ENST00000510662.1_Missense_Mutation_p.D318N NM_001278317.1|NM_012304.3 NP_001265246.1|NP_036436.1 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 365 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 CCGGGTCACCGACGTGGGCAT 0.677000 7 4 0 0 1 0 0 MME 4311 broad.mit.edu 37 3 154855984 154855984 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:154855984G>A ENST00000460393.1 + 9 934 c.814G>A c.(814-816)Gaa>Aaa p.E272K MME_ENST00000462745.1_Missense_Mutation_p.E272K|MME_ENST00000360490.2_Missense_Mutation_p.E272K|MME_ENST00000493237.1_Missense_Mutation_p.E272K|MME_ENST00000492661.1_Missense_Mutation_p.E272K NM_000902.3|NM_007287.2 NP_000893.2|NP_009218.2 P08473 NEP_HUMAN membrane metallo-endopeptidase 272 cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) GCTTGCTTTGGAAATGAATAA 0.358000 35 41 0 0 1 0 0 GCNT2 2651 broad.mit.edu 37 6 10556735 10556735 + Missense_Mutation SNP T T A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:10556735T>A ENST00000316170.3 + 1 496 c.79T>A c.(79-81)Ttt>Att p.F27I GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000379597.3_Intron NM_001491.2 NP_001482.1 Q8N0V5 GNT2A_HUMAN glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) 28 Golgi membrane|integral to membrane N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2) 12 Ovarian(93;0.107)|Breast(50;0.148) all_hematologic(90;0.107) KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119) TGTGTTCAATTTTGGGGGAGA 0.388000 44 36 0 0 1 0 0 PTCHD3 374308 broad.mit.edu 37 10 27702397 27702397 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr10:27702397G>A ENST00000438700.3 - 1 900 c.783C>T c.(781-783)ctC>ctT p.L261L NM_001034842.3 NP_001030014.2 Q3KNS1 PTHD3_HUMAN patched domain containing 3 261 spermatid development integral to membrane hedgehog receptor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 55 GGGGCACGCAGAGCGCCCTGT 0.637000 8 16 0 0 1 0 0 ZFPM2 23414 broad.mit.edu 37 8 106813841 106813841 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:106813841C>T ENST00000407775.2 + 8 1781 c.1531C>T c.(1531-1533)Cct>Tct p.P511S RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.P379S|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.P242S|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.P379S|RP11-152P17.2_ENST00000520433.1_RNA NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 511 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) CACCATGGTCCCTCAAGCTTC 0.493000 34 125 0 0 1 0 0 PPARGC1A 10891 broad.mit.edu 37 4 23803489 23803489 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr4:23803489G>A ENST00000264867.2 - 12 2276 c.2157C>T c.(2155-2157)ttC>ttT p.F719F PPARGC1A_ENST00000509702.1_5'UTR NM_013261.3 NP_037393.1 Q9UBK2 PRGC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 alpha 719 RRM. androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5) 51 Breast(46;0.0503) GGTAGGTAATGAAACCATAGC 0.408000 25 8 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152711441 152711441 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:152711441G>A ENST00000367255.5 - 53 8752 c.8151C>T c.(8149-8151)atC>atT p.I2717I SYNE1_ENST00000423061.1_Silent_p.I2724I|SYNE1_ENST00000265368.4_Silent_p.I2717I|SYNE1_ENST00000341594.5_Silent_p.I2756I|SYNE1_ENST00000448038.1_Silent_p.I2724I NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 2717 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) AGGAGCTCATGATGTCAGCCC 0.458000 HNSCC(10;0.0054) 17 35 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90049464 90049464 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:90049464C>T ENST00000405460.2 + 54 11291 c.11195C>T c.(11194-11196)tCa>tTa p.S3732L NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 3732 Calx-beta 24. cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) CCAGAGTTATCAGAGGTTGTG 0.378000 25 55 0 0 1 0 0 MYO7B 4648 broad.mit.edu 37 2 128341877 128341877 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:128341877C>T ENST00000389524.4 + 13 1577 c.1524C>T c.(1522-1524)tcC>tcT p.S508S MYO7B_ENST00000409816.2_Silent_p.S508S|MYO7B_ENST00000428314.1_Silent_p.S508S Q6PIF6 MYO7B_HUMAN myosin VIIB 508 Myosin head-like. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 75 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) GCATCATCTCCCTCCTGGACG 0.607000 23 57 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228881722 228881722 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:228881722G>A ENST00000392056.3 - 7 3894 c.3848C>T c.(3847-3849)tCc>tTc p.S1283F SPHKAP_ENST00000344657.5_Missense_Mutation_p.S1283F NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 1283 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) GCAGAGACCGGATGAGGACGC 0.502000 34 49 0 0 1 0 0 LYSMD1 388695 broad.mit.edu 37 1 151133436 151133436 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:151133436G>A ENST00000368908.5 - 3 1266 c.606C>T c.(604-606)gtC>gtT p.V202V LYSMD1_ENST00000440902.2_Silent_p.V154V NM_212551.4 NP_997716.1 Q96S90 LYSM1_HUMAN LysM, putative peptidoglycan-binding, domain containing 1 202 cell wall macromolecule catabolic process endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) CAGGACCTAGGACTGCTCGTT 0.572000 31 80 0 0 1 0 0 GPR179 440435 broad.mit.edu 37 17 36489278 36489278 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr17:36489278G>A ENST00000342292.4 - 10 1913 c.1893C>T c.(1891-1893)ttC>ttT p.F631F NM_001004334.2 NP_001004334.2 Q6PRD1 GP179_HUMAN G protein-coupled receptor 179 631 integral to membrane|plasma membrane G-protein coupled receptor activity breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) CCAGCTTCCAGAACTGGCAGG 0.607000 14 21 0 0 1 0 0 MYH15 22989 broad.mit.edu 37 3 108117636 108117636 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:108117636C>T ENST00000273353.3 - 36 5097 c.5041G>A c.(5041-5043)Gag>Aag p.E1681K NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 1681 myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 GCCACCTGCTCCTTCAGATCA 0.537000 58 114 0 0 1 0 0 GLP1R 2740 broad.mit.edu 37 6 39047409 39047409 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:39047409G>A ENST00000373256.4 + 11 1156 c.1113G>A c.(1111-1113)atG>atA p.M371I NM_002062.3 NP_002053.3 P43220 GLP1R_HUMAN glucagon-like peptide 1 receptor 371 activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion integral to membrane|plasma membrane glucagon receptor activity|peptide receptor activity, G-protein coupled breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 31 Exenatide(DB01276)|Glucagon recombinant(DB00040) CCTTTGTGATGGACGAGCACG 0.562000 16 66 0 0 1 0 0 GRIK2 2898 broad.mit.edu 37 6 101847245 101847245 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:101847245G>A ENST00000369138.1 + 1 582 c.92G>A c.(91-93)gGa>gAa p.G31E GRIK2_ENST00000369137.3_Missense_Mutation_p.G31E|GRIK2_ENST00000421544.1_Missense_Mutation_p.G31E|GRIK2_ENST00000318991.6_Missense_Mutation_p.G31E|GRIK2_ENST00000413795.1_Missense_Mutation_p.G31E|GRIK2_ENST00000358361.3_Missense_Mutation_p.G31E NM_001166247.1 NP_001159719.1 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 31 glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) TATTCTCAAGGAACCACACAT 0.468000 9 85 0 0 1 0 0 ANGPT1 284 broad.mit.edu 37 8 108264126 108264126 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:108264126G>A ENST00000520734.1 - 8 1139 c.854C>T c.(853-855)tCc>tTc p.S285F ANGPT1_ENST00000518386.1_5'UTR|ANGPT1_ENST00000520052.1_Missense_Mutation_p.S284F Q15389 ANGP1_HUMAN angiopoietin 1 485 Fibrinogen C-terminal. activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway extracellular space|membrane raft|microvillus|plasma membrane receptor tyrosine kinase binding NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 43 Breast(1;5.06e-08) OV - Ovarian serous cystadenocarcinoma(57;5.53e-09) GGAACGTAAGGAGTAACTGGG 0.433000 53 61 0 0 1 0 0 EXD2 55218 broad.mit.edu 37 14 69704396 69704396 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr14:69704396C>T ENST00000409014.1 + 10 1679 c.1022C>T c.(1021-1023)tCc>tTc p.S341F EXD2_ENST00000312994.5_Missense_Mutation_p.S466F|EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000409018.3_Missense_Mutation_p.S466F|EXD2_ENST00000449989.1_Missense_Mutation_p.S341F|EXD2_ENST00000409242.1_Missense_Mutation_p.S341F|EXD2_ENST00000409949.1_Missense_Mutation_p.S341F|EXD2_ENST00000409675.1_Missense_Mutation_p.S341F NM_001193360.1 NP_001180289.1 Q9NVH0 EXD2_HUMAN exonuclease 3'-5' domain containing 2 341 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1) 14 CATGCCATTTCCAACTACTAT 0.572000 33 1 0 0 1 0 0 SMARCAL1 50485 broad.mit.edu 37 2 217315660 217315660 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:217315660C>T ENST00000357276.4 + 12 2273 c.1943C>T c.(1942-1944)tCc>tTc p.S648F SMARCAL1_ENST00000358207.5_Missense_Mutation_p.S648F NM_014140.3 NP_054859.2 Q9NZC9 SMAL1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 648 chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter nucleus ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1) 42 Renal(323;0.0458) Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111) CGCCTCAAGTCCGACGTCCTT 0.612000 Schimke Immuno-Osseous Dysplasia 39 55 0 0 1 0 0 TPTE 7179 broad.mit.edu 37 21 10916378 10916378 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr21:10916378G>A ENST00000298232.7 - 19 1581 c.1214C>T c.(1213-1215)tCg>tTg p.S405L TPTE_ENST00000361285.4_Missense_Mutation_p.S423L|TPTE_ENST00000415664.2_Intron|TPTE_ENST00000342420.5_Missense_Mutation_p.S385L NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 423 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.S405L(2) NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 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) ACGAGGAATCGAATAAATAAT 0.388000 10 57 0 0 1 0 0 BMP5 653 broad.mit.edu 37 6 55638912 55638912 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:55638912C>T ENST00000370830.3 - 4 1660 c.962G>A c.(961-963)cGa>cAa p.R321Q BMP5_ENST00000446683.2_Missense_Mutation_p.R321Q NM_021073.2 NP_066551.1 P22003 BMP5_HUMAN bone morphogenetic protein 5 321 cartilage development|cell differentiation|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity p.R321Q(1) cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 45 Lung NSC(77;0.0462) LUSC - Lung squamous cell carcinoma(124;0.181) TTGATTTTTTCGTTTGTTGGC 0.478000 52 35 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179588342 179588342 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:179588342C>T ENST00000589042.1 - 74 21709 c.21485G>A c.(21484-21486)gGa>gAa p.G7162E TTN_ENST00000342992.6_Missense_Mutation_p.G5918E|TTN_ENST00000591111.1_Missense_Mutation_p.G6845E|RP11-171I2.1_ENST00000590024.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6845 Ig-like 53. 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) TGGAGGGGTTCCTCTAATAAC 0.438000 8 10 0 0 1 0 0 EPB41L4B 54566 broad.mit.edu 37 9 112015735 112015735 + Missense_Mutation SNP T T C TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr9:112015735T>C ENST00000374566.3 - 12 1782 c.1265A>G c.(1264-1266)cAt>cGt p.H422R EPB41L4B_ENST00000374557.4_Missense_Mutation_p.H422R NM_019114.3 NP_061987.3 Q9H329 E41LB_HUMAN erythrocyte membrane protein band 4.1 like 4B 422 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|structural constituent of cytoskeleton NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GAACGTTGAATGTCTCCGGGA 0.448000 50 13 0 0 1 0 0 C3orf38 285237 broad.mit.edu 37 3 88205426 88205426 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:88205426C>T ENST00000318887.3 + 3 941 c.631C>T c.(631-633)Ctt>Ttt p.L211F C3orf38_ENST00000486971.1_3'UTR NM_173824.3 NP_776185.2 Q5JPI3 CC038_HUMAN chromosome 3 open reading frame 38 211 apoptosis breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 12 Lung NSC(201;0.17) UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661) AGAAGAATTTCTTTTTCTCAG 0.428000 36 65 0 0 1 0 0 GRPR 2925 broad.mit.edu 37 X 16170693 16170693 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chrX:16170693C>T ENST00000380289.2 + 3 1478 c.1080C>T c.(1078-1080)tcC>tcT p.S360S NM_005314.2 NP_005305.1 P30550 GRPR_HUMAN gastrin-releasing peptide receptor 360 cell proliferation integral to plasma membrane bombesin receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3) 25 Hepatocellular(33;0.183) GCATGACCTCCCTCAAGAGTA 0.522000 62 26 0 0 1 0 0 ATP2A2 488 broad.mit.edu 37 12 110778514 110778514 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:110778514C>T ENST00000395494.2 + 13 2294 c.1731C>T c.(1729-1731)atC>atT p.I577I ATP2A2_ENST00000539276.2_Silent_p.I604I|ATP2A2_ENST00000308664.6_Silent_p.I604I P16615 AT2A2_HUMAN ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 604 Interacts with HAX1. ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 38 CTCCGAGAATCGAGGTGGCCT 0.527000 27 75 0 0 1 0 0 CAPNS1 826 broad.mit.edu 37 19 36634007 36634007 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:36634007C>T ENST00000246533.3 + 6 1031 c.433C>T c.(433-435)Cgc>Tgc p.R145C CAPNS1_ENST00000588815.1_Missense_Mutation_p.R145C|CAPNS1_ENST00000588780.1_Missense_Mutation_p.R145C|CAPNS1_ENST00000587718.1_Missense_Mutation_p.R145C|CAPNS1_ENST00000589146.1_Intron|CAPNS1_ENST00000590874.1_Missense_Mutation_p.R115C NM_001003962.1|NM_001749.2 NP_001003962.1|NP_001740.1 P04632 CPNS1_HUMAN calpain, small subunit 1 145 EF-hand 2. positive regulation of cell proliferation cytoplasm|plasma membrane calcium ion binding|calcium-dependent cysteine-type endopeptidase activity cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 5 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) TGACACATGTCGCAGCATGGT 0.527000 62 75 0 0 1 0 0 C6 729 broad.mit.edu 37 5 41149355 41149355 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:41149355C>T ENST00000263413.3 - 17 2875 c.2611G>A c.(2611-2613)Gaa>Aaa p.E871K C6_ENST00000337836.5_Missense_Mutation_p.E871K NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 871 C5b-binding domain.|Complement control factor I module 2. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding p.E871K(1) central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) GAACATTTTTCCCAGTCATAG 0.418000 81 187 0 0 1 0 0 WDR4 10785 broad.mit.edu 37 21 44283566 44283566 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr21:44283566G>A ENST00000398208.2 - 4 496 c.437C>T c.(436-438)tCt>tTt p.S146F WDR4_ENST00000330317.2_Missense_Mutation_p.S146F|WDR4_ENST00000492742.1_5'UTR NM_001260474.1|NM_001260475.1|NM_001260476.1|NM_018669.5 NP_001247403.1|NP_001247404.1|NP_001247405.1|NP_061139.2 P57081 WDR4_HUMAN WD repeat domain 4 146 tRNA modification cytoplasm|nucleoplasm protein binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|ovary(2) 11 Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244) TAACAGCATAGACAGGTGCCC 0.612000 36 54 0 0 1 0 0 LAMA1 284217 broad.mit.edu 37 18 7036045 7036045 + Missense_Mutation SNP C C T rs143022454 byFrequency TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr18:7036045C>T ENST00000389658.3 - 13 1873 c.1780G>A c.(1780-1782)Gat>Aat p.D594N NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 594 Laminin IV type A 1. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ACCGGAATATCGTAGGACACC 0.443000 18 35 0 0 1 0 0 CDH7 1005 broad.mit.edu 37 18 63548003 63548003 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr18:63548003C>T ENST00000397968.2 + 12 2657 c.2231C>T c.(2230-2232)tCa>tTa p.S744L CDH7_ENST00000323011.3_Missense_Mutation_p.S744L NM_004361.2 NP_004352.2 Q9ULB5 CADH7_HUMAN cadherin 7, type 2 744 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 80 Esophageal squamous(42;0.129) GTTGCTGAATCACTCAGCTCT 0.453000 28 74 0 0 1 0 0 CUBN 8029 broad.mit.edu 37 10 17142113 17142113 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr10:17142113G>A ENST00000377833.4 - 14 1721 c.1656C>T c.(1654-1656)agC>agT p.S552S NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 552 CUB 1. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CATGAGGGAGGCTGGAGCCAC 0.428000 20 37 0 0 1 0 0 UGT2B15 7366 broad.mit.edu 37 4 69512844 69512844 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr4:69512844C>T ENST00000338206.5 - 6 1580 c.1571G>A c.(1570-1572)gGa>gAa p.G524E NM_001076.3 NP_001067.2 P54855 UDB15_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B15 524 steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity CTTCTTCTTTCCTTTTTTGGC 0.393000 25 111 0 0 1 0 0 NUDT15 55270 broad.mit.edu 37 13 48612039 48612039 + Splice_Site SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr13:48612039G>A ENST00000258662.2 + 1 337 c.158_splice c.e1+1 p.G53_splice SUCLA2_ENST00000543413.1_5'UTR NM_018283.1 NP_060753.1 Q9NV35 NUD15_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 15 53 Nudix hydrolase. hydrolase activity|metal ion binding endometrium(1)|kidney(3)|large_intestine(2)|lung(1) 7 all_cancers(8;3.75e-25)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|all_hematologic(8;0.000219)|Lung NSC(96;0.000226)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236) GBM - Glioblastoma multiforme(144;4.83e-07) TCTGGAGTTCGGGTGAGCAGC 0.647000 OREG0022405 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 18 0 0 1 0 0 PDZRN4 29951 broad.mit.edu 37 12 41966269 41966269 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:41966269G>A ENST00000298919.7 + 10 1296 c.908G>A c.(907-909)cGa>cAa p.R303Q PDZRN4_ENST00000402685.2_Missense_Mutation_p.R563Q|PDZRN4_ENST00000539469.2_Missense_Mutation_p.R305Q Q6ZMN7 PZRN4_HUMAN PDZ domain containing ring finger 4 563 PDZ 1. ubiquitin-protein ligase activity|zinc ion binding p.R305Q(1)|p.R563Q(1) breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 77 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) GAAAGCTTGCGAAATGATGAG 0.493000 14 33 0 0 1 0 0 AFF4 27125 broad.mit.edu 37 5 132269998 132269998 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:132269998G>A ENST00000265343.5 - 3 1138 c.759C>T c.(757-759)ccC>ccT p.P253P AFF4_ENST00000491831.1_5'UTR|AFF4_ENST00000378595.3_Silent_p.P253P NM_014423.3 NP_055238.1 Q9UHB7 AFF4_HUMAN AF4/FMR2 family, member 4 253 Ser-rich. transcription from RNA polymerase II promoter mitochondrion|nucleolus protein binding|sequence-specific DNA binding transcription factor activity SEPT8/AFF4(2) breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2) 43 all_cancers(142;0.145)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CATAGGCAGTGGGTTTCTGTA 0.512000 19 54 0 0 1 0 0 NAB1 4664 broad.mit.edu 37 2 191524716 191524716 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:191524716C>T ENST00000337386.5 + 4 1275 c.814C>T c.(814-816)Cat>Tat p.H272Y NAB1_ENST00000409581.1_Missense_Mutation_p.H272Y|NAB1_ENST00000357215.5_Missense_Mutation_p.H272Y|NAB1_ENST00000545490.1_Missense_Mutation_p.H42Y|NAB1_ENST00000484774.1_3'UTR|NAB1_ENST00000409641.1_Missense_Mutation_p.H272Y NM_005966.3 NP_005957.2 Q13506 NAB1_HUMAN NGFI-A binding protein 1 (EGR1 binding protein 1) 272 NCD2. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1) 7 OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109) TCTCACACTTCATGAGGTACA 0.413000 28 34 0 0 1 0 0 HTR2C 3358 broad.mit.edu 37 X 114082662 114082662 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chrX:114082662C>T ENST00000276198.1 + 5 1174 c.446C>T c.(445-447)tCg>tTg p.S149L HTR2C_ENST00000371950.3_Missense_Mutation_p.S149L|HTR2C_ENST00000371951.1_Missense_Mutation_p.S149L NM_000868.2 NP_000859.1 P28335 5HT2C_HUMAN 5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled 149 cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission cytoplasm|integral to membrane|nucleus|plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246) TGCGCTATATCGCTGGATCGG 0.428000 48 13 0 0 1 0 0 AKAP13 11214 broad.mit.edu 37 15 86286971 86286971 + Silent SNP C C A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr15:86286971C>A ENST00000394518.2 + 36 8402 c.8307C>A c.(8305-8307)gcC>gcA p.A2769A AKAP13_ENST00000361243.2_Silent_p.A2773A|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000394510.2_Silent_p.A1014A NM_001270546.1|NM_007200.3 NP_001257475.1|NP_009131.2 Q12802 AKP13_HUMAN A kinase (PRKA) anchor protein 13 2769 Interaction with ESR1. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 98 CCACCTCTGCCTCTACCCGCC 0.522000 43 29 5.78141e-17 5.85055e-17 1 1 0 CFAP54 144535 broad.mit.edu 37 12 97137536 97137536 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:97137536G>A ENST00000524981.3 + 21 2758 c.2758G>A c.(2758-2760)Gaa>Aaa p.E920K Q6ZTY8 CL063_HUMAN 894 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2) 54 GGAAGGAAATGAATTTATTTC 0.343000 7 8 0 0 1 0 0 GALNTL6 442117 broad.mit.edu 37 4 173873278 173873278 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr4:173873278G>A ENST00000506823.1 + 10 1897 c.1240G>A c.(1240-1242)Gac>Aac p.D414N GALNTL6_ENST00000508122.1_Missense_Mutation_p.D397N NM_001034845.2 NP_001030017.2 Q49A17 GLTL6_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 414 Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 45 CTCCACGGGGGACATCTCTGC 0.567000 13 68 0 0 1 0 0 RAB5B 5869 broad.mit.edu 37 12 56385228 56385228 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:56385228C>T ENST00000360299.5 + 5 744 c.523C>T c.(523-525)Ctg>Ttg p.L175L RAB5B_ENST00000553116.1_Silent_p.L175L|RAB5B_ENST00000448789.2_Silent_p.L134L NM_002868.3 NP_002859.1 P61020 RAB5B_HUMAN RAB5B, member RAS oncogene family 175 protein transport|small GTPase mediated signal transduction early endosome membrane|melanosome|membrane fraction|plasma membrane GTP binding|GTP-dependent protein binding|GTPase activity endometrium(1)|large_intestine(1)|liver(2)|lung(4)|upper_aerodigestive_tract(1) 9 UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.235) TGATCTCTTCCTGGCAATAGG 0.458000 6 38 0 0 1 0 0 FYB 2533 broad.mit.edu 37 5 39153643 39153643 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:39153643G>A ENST00000351578.6 - 3 1389 c.1199C>T c.(1198-1200)cCg>cTg p.P400L FYB_ENST00000512982.1_Missense_Mutation_p.P400L|FYB_ENST00000515010.1_Missense_Mutation_p.P400L|FYB_ENST00000540520.1_Missense_Mutation_p.P410L|FYB_ENST00000505428.1_Missense_Mutation_p.P400L NM_199335.3 NP_955367.1 O15117 FYB_HUMAN FYN binding protein 400 Interaction with SKAP1. cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway cytosol|nucleus protein binding endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1) 45 all_lung(31;0.000343) Epithelial(62;0.235) TTGGCTGGCCGGATGGGATGG 0.493000 42 128 0 0 1 0 0 PCSK5 5125 broad.mit.edu 37 9 78925636 78925636 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr9:78925636G>A ENST00000545128.1 + 29 4210 c.3672G>A c.(3670-3672)agG>agA p.R1224R NM_001190482.1 NP_001177411.1 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 870 anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 CTTCCGTAAGGAGTGGGAGCT 0.557000 7 5 0 0 1 0 0 SULT2A1 6822 broad.mit.edu 37 19 48386958 48386958 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:48386958C>T ENST00000222002.3 - 2 360 c.221G>A c.(220-222)cGa>cAa p.R74Q NM_003167.3 NP_003158.2 Q06520 ST2A1_HUMAN sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1 74 3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process cytosol bile-salt sulfotransferase activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1) 20 all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552) CCAGGGTGATCGCTCCCAGAT 0.517000 12 15 0 0 1 0 0 UNC5D 137970 broad.mit.edu 37 8 35579897 35579897 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:35579897C>T ENST00000453357.2 + 9 1328 c.1272C>T c.(1270-1272)ttC>ttT p.F424F UNC5D_ENST00000420357.1_Silent_p.F362F|UNC5D_ENST00000416672.1_Silent_p.F434F|UNC5D_ENST00000287272.2_Intron|UNC5D_ENST00000404895.2_Silent_p.F429F Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 429 apoptosis|axon guidance integral to membrane receptor activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) CCTTCAACTTCAAAACAGTCC 0.552000 49 79 0 0 1 0 0 EFHB 151651 broad.mit.edu 37 3 19926050 19926050 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:19926050G>A ENST00000295824.9 - 11 2152 c.1991C>T c.(1990-1992)aCt>aTt p.T664I EFHB_ENST00000344838.4_Missense_Mutation_p.T534I NM_144715.3 NP_653316.3 Q8N7U6 EFHB_HUMAN EF-hand domain family, member B 664 signal transduction proteinaceous extracellular matrix calcium ion binding breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1) 26 TATGAGGAGAGTTTGTTCAGG 0.368000 17 48 0 0 1 0 0 CXCL5 6374 broad.mit.edu 37 4 74863790 74863790 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr4:74863790C>T ENST00000296027.4 - 3 462 c.265G>A c.(265-267)Gaa>Aaa p.E89K NM_002994.3 NP_002985.1 P42830 CXCL5_HUMAN chemokine (C-X-C motif) ligand 5 89 cell-cell signaling|chemotaxis|immune response|positive regulation of cell proliferation|signal transduction extracellular space chemokine activity p.E89K(1) endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(1) 9 Breast(15;0.00136) all cancers(17;0.00273)|Lung(101;0.196) AGACAAATTTCCTTCCCGTTC 0.423000 56 29 0 0 1 0 0 YTHDC2 64848 broad.mit.edu 37 5 112926865 112926865 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:112926865G>A ENST00000161863.4 + 27 4166 c.3953G>A c.(3952-3954)cGg>cAg p.R1318Q NM_022828.3 NP_073739.3 Q9H6S0 YTDC2_HUMAN YTH domain containing 2 1318 YTH. ATP binding|ATP-dependent helicase activity|nucleic acid binding NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594) AGTAATGAACGGAAGCTAAAT 0.398000 37 76 0 0 1 0 0 C3 718 broad.mit.edu 37 19 6710854 6710854 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:6710854G>A ENST00000245907.6 - 13 1574 c.1482C>T c.(1480-1482)atC>atT p.I494I NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 494 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) CCTTGTTCATGATCTGGGGGG 0.657000 15 27 0 0 1 0 0 MTHFR 4524 broad.mit.edu 37 1 11856429 11856429 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:11856429C>T ENST00000376592.1 - 4 742 c.614G>A c.(613-615)gGg>gAg p.G205E MTHFR_ENST00000376583.3_Missense_Mutation_p.G246E|MTHFR_ENST00000376585.1_Missense_Mutation_p.G246E|MTHFR_ENST00000376590.3_Missense_Mutation_p.G205E P42898 MTHR_HUMAN methylenetetrahydrofolate reductase (NAD(P)H) 205 blood circulation|folic acid metabolic process cytosol methylenetetrahydrofolate reductase (NADPH) activity|protein binding NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649) Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116) CTCAAAGCTCCCTGCTTCGGG 0.562000 182 128 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38935283 38935283 + Nonsense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:38935283G>A ENST00000355481.4 + 7 728 c.597G>A c.(595-597)tgG>tgA p.W199* RYR1_ENST00000359596.3_Nonsense_Mutation_p.W199*|RYR1_ENST00000360985.3_Nonsense_Mutation_p.W199* NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 199 MIR 2. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) AGACACTATGGAACATGAACC 0.597000 11 9 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110523106 110523106 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:110523106C>T ENST00000378402.5 + 71 11600 c.11496C>T c.(11494-11496)ttC>ttT p.F3832F NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 3832 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) AAGTTTACTTCACTGGCACCA 0.438000 HNSCC(38;0.096) 60 73 0 0 1 0 0 SLITRK6 84189 broad.mit.edu 37 13 86368439 86368439 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr13:86368439C>T ENST00000400286.2 - 2 2803 c.2205G>A c.(2203-2205)atG>atA p.M735I NM_032229.2 NP_115605.2 Q9H5Y7 SLIK6_HUMAN SLIT and NTRK-like family, member 6 735 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) TTTTGTATTTCATATTTGACC 0.373000 94 123 0 0 1 0 0 IL7R 3575 broad.mit.edu 37 5 35873655 35873655 + Missense_Mutation SNP A A T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:35873655A>T ENST00000303115.3 + 5 740 c.611A>T c.(610-612)aAa>aTa p.K204I IL7R_ENST00000506850.1_Missense_Mutation_p.K204I|IL7R_ENST00000343305.4_Missense_Mutation_p.K204I NM_002185.3 NP_002176.2 P16871 IL7RA_HUMAN interleukin 7 receptor 204 Fibronectin type-III. immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3) 126 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) TATGAGATTAAAGTTCGATCC 0.418000 """Mis, O""" """ALL, ETP ALL""" Severe combined immune deficiency 16 47 0 0 1 0 0 TRIM58 25893 broad.mit.edu 37 1 248028153 248028153 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:248028153G>A ENST00000366481.3 + 3 711 c.663G>A c.(661-663)cgG>cgA p.R221R NM_015431.3 NP_056246.3 Q8NG06 TRI58_HUMAN tripartite motif containing 58 221 intracellular zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1) 63 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GCAAGAGCCGGCTGGTCCAGC 0.692000 7 16 0 0 1 0 0 SLC9A2 6549 broad.mit.edu 37 2 103322349 103322349 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:103322349G>A ENST00000233969.2 + 11 2164 c.2022G>A c.(2020-2022)acG>acA p.T674T NM_003048.3 NP_003039.2 Q9UBY0 SL9A2_HUMAN solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2 674 integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 CTAAAAATACGAAGCTTCCAG 0.303000 14 25 0 0 1 0 0 GRM8 2918 broad.mit.edu 37 7 126173630 126173630 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:126173630G>A ENST00000339582.2 - 9 2614 c.1806C>T c.(1804-1806)atC>atT p.I602I GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Silent_p.I602I|GRM8_ENST00000444921.2_Silent_p.I602I O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 602 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) CAAAGGTCACGATCACAAAGG 0.483000 HNSCC(24;0.065) 10 26 0 0 1 0 0 OR10G9 219870 broad.mit.edu 37 11 123894476 123894476 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:123894476C>T ENST00000375024.1 + 1 757 c.757C>T c.(757-759)Ccc>Tcc p.P253S NM_001001953.1 NP_001001953.1 Q8NGN4 O10G9_HUMAN olfactory receptor, family 10, subfamily G, member 9 253 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1) 61 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;0.0399) CTTTTTTGTTCCCTGTGTTTT 0.537000 36 68 0 0 1 0 0 SORL1 6653 broad.mit.edu 37 11 121358855 121358855 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:121358855G>A ENST00000260197.7 + 4 772 c.643G>A c.(643-645)Gcc>Acc p.A215T SORL1_ENST00000532451.1_3'UTR NM_003105.5 NP_003096.1 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 215 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) ACACAGTAAGGCCTCCAACCT 0.522000 69 97 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196729151 196729151 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:196729151C>T ENST00000312428.6 - 41 7328 c.7228G>A c.(7228-7230)Gaa>Aaa p.E2410K NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2410 AAA 4 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 CTGACATCTTCCAGAAAAGAC 0.393000 18 39 0 0 1 0 0 OR8H3 390152 broad.mit.edu 37 11 55890636 55890636 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:55890636G>A ENST00000313472.3 + 1 788 c.788G>A c.(787-789)aGa>aAa p.R263K NM_001005201.1 NP_001005201.1 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, member 3 263 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1) 42 Esophageal squamous(21;0.00693) TTAAAGCCAAGAAAGTCTTAT 0.388000 21 42 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32029313 32029313 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:32029313C>T ENST00000375244.3 - 21 7554 c.7353G>A c.(7351-7353)cgG>cgA p.R2451R TNXB_ENST00000375247.2_Silent_p.R2451R P22105 TENX_HUMAN tenascin XB 2511 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 CCACCTGGGGCCGCCCGTCCC 0.667000 30 63 0 0 1 0 0 MARCH10 162333 broad.mit.edu 37 17 60802406 60802406 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr17:60802406C>T ENST00000544856.2 - 8 2372 c.1994G>A c.(1993-1995)gGg>gAg p.G665E MARCH10_ENST00000311269.5_Missense_Mutation_p.G666E|MARCH10_ENST00000583600.1_Missense_Mutation_p.G704E|RP11-156L14.1_ENST00000584597.1_RNA|RP11-156L14.1_ENST00000579201.1_RNA|RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000456609.2_Missense_Mutation_p.G666E|RP11-156L14.1_ENST00000582564.1_RNA Q8NA82 MARHA_HUMAN membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase 666 ligase activity|zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15) 38 TGGGGAACCCCCGGCTATCTG 0.547000 42 53 0 0 1 0 0 ASIC2 40 broad.mit.edu 37 17 31351000 31351000 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr17:31351000G>A ENST00000225823.2 - 6 2100 c.1228C>T c.(1228-1230)Ctc>Ttc p.L410F ASIC2_ENST00000448983.1_5'UTR|ASIC2_ENST00000359872.6_Missense_Mutation_p.L359F NM_183377.1 NP_899233.1 Q16515 ACCN1_HUMAN acid-sensing (proton-gated) ion channel 2 359 central nervous system development|peripheral nervous system development|synaptic transmission integral to plasma membrane ligand-gated sodium channel activity|protein binding Amiloride(DB00594) GTCCTGCAGAGACAGTAATTG 0.517000 41 55 0 0 1 0 0 ZNF485 220992 broad.mit.edu 37 10 44112749 44112749 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr10:44112749C>T ENST00000361807.3 + 5 1452 c.1258C>T c.(1258-1260)Ccc>Tcc p.P420S ZNF485_ENST00000374435.3_Missense_Mutation_p.P420S|ZNF485_ENST00000374437.2_Missense_Mutation_p.P329S NM_145312.3 NP_660355.2 Q8NCK3 ZN485_HUMAN zinc finger protein 485 420 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1) 16 GAAAGCTTTTCCCCGAAGTTC 0.398000 17 5 0 0 1 0 0 ZSCAN10 84891 broad.mit.edu 37 16 3139413 3139413 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr16:3139413G>A ENST00000252463.2 - 5 1944 c.1857C>T c.(1855-1857)agC>agT p.S619S ZSCAN10_ENST00000538082.2_Silent_p.S537S|ZSCAN10_ENST00000575108.1_Silent_p.S280S NM_032805.1 NP_116194.1 Q96SZ4 ZSC10_HUMAN zinc finger and SCAN domain containing 10 619 negative regulation of transcription, DNA-dependent|viral reproduction nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1) 24 CCAGGTTGGAGCTATTGCGGA 0.711000 32 55 0 0 1 0 0 OR5H2 79310 broad.mit.edu 37 3 98002320 98002320 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:98002320C>T ENST00000355273.2 + 1 589 c.589C>T c.(589-591)Cct>Tct p.P197S RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005482.1 NP_001005482.1 Q8NGV7 OR5H2_HUMAN olfactory receptor, family 5, subfamily H, member 2 197 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1) 24 CTGTACTGACCCTTCTATTAA 0.303000 13 21 0 0 1 0 0 S100A7L2 645922 broad.mit.edu 37 1 153410686 153410686 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:153410686G>A ENST00000368725.2 - 2 152 c.153C>T c.(151-153)ttC>ttT p.F51F NM_001045479.1 NP_001038944.2 S100 calcium binding protein A7-like 2 NS(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1) 8 all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) GGAAGTTGGGGAAGTTCTCCT 0.507000 38 28 0 0 1 0 0 NYAP1 222950 broad.mit.edu 37 7 100086437 100086437 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:100086437G>A ENST00000423930.1 + 4 1252 c.1093G>A c.(1093-1095)Gag>Aag p.E365K NYAP1_ENST00000300179.2_Missense_Mutation_p.E365K|NYAP1_ENST00000454988.1_Missense_Mutation_p.E308K Q6ZVC0 CG051_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 365 Pro-rich. CCACTCCAAGGAGCCAGCCGG 0.687000 25 51 0 0 1 0 0 KCNK10 54207 broad.mit.edu 37 14 88729552 88729552 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr14:88729552C>T ENST00000340700.5 - 2 832 c.381G>A c.(379-381)ttG>ttA p.L127L KCNK10_ENST00000319231.5_Silent_p.L132L|KCNK10_ENST00000312350.5_Silent_p.L132L NM_021161.4 NP_066984.1 P57789 KCNKA_HUMAN potassium channel, subfamily K, member 10 127 signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 47 TCACCTGGATCAACGTCTCCA 0.547000 21 5 0 0 1 0 0 VPS13D 55187 broad.mit.edu 37 1 12337081 12337081 + Missense_Mutation SNP T T A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:12337081T>A ENST00000358136.3 + 19 3566 c.3436T>A c.(3436-3438)Ttt>Att p.F1146I VPS13D_ENST00000356315.4_Missense_Mutation_p.F1146I NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 1146 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) AATGACTGATTTTGAAAGAAG 0.383000 40 30 0 0 1 0 0 JAKMIP2 9832 broad.mit.edu 37 5 147040593 147040593 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:147040593C>T ENST00000265272.5 - 3 1012 c.545G>A c.(544-546)gGg>gAg p.G182E JAKMIP2_ENST00000333010.6_Missense_Mutation_p.G140E|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.G182E NM_014790.3 NP_055605.2 Q96AA8 JKIP2_HUMAN janus kinase and microtubule interacting protein 2 182 Golgi apparatus NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCGAAGGTCCCCAGCCTTGAT 0.517000 66 94 0 0 1 0 0 RNF123 63891 broad.mit.edu 37 3 49738092 49738092 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:49738092C>T ENST00000327697.6 + 15 1371 c.1227C>T c.(1225-1227)atC>atT p.I409I RNF123_ENST00000432042.1_Silent_p.I263I NM_022064.3 NP_071347.2 Q5XPI4 RN123_HUMAN ring finger protein 123 409 cytoplasm ligase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255) GGCTCACTATCGCCATCCTGA 0.607000 55 85 0 0 1 0 0 EMB 133418 broad.mit.edu 37 5 49698148 49698148 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:49698148C>T ENST00000303221.5 - 7 1098 c.883G>A c.(883-885)Ggg>Agg p.G295R EMB_ENST00000508934.1_Missense_Mutation_p.G241R|EMB_ENST00000514111.1_Missense_Mutation_p.G245R NM_198449.2 NP_940851.1 Q6PCB8 EMB_HUMAN embigin 295 integral to membrane breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2) 15 Lung SC(58;0.218) Lung NSC(810;0.0795) AATTCTTTCCCCTCATCTGTG 0.308000 5 27 0 0 1 0 0 DDX10 1662 broad.mit.edu 37 11 108546451 108546451 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:108546451C>T ENST00000526794.1 + 3 408 c.376C>T c.(376-378)Cca>Tca p.P126S DDX10_ENST00000322536.3_Missense_Mutation_p.P126S Q13206 DDX10_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 126 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2) 27 all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729) BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133) TTTTCTTGTTCCAGTAAGTAC 0.398000 T NUP98 AML* 28 53 0 0 1 0 0 CYP17A1 1586 broad.mit.edu 37 10 104592929 104592929 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr10:104592929C>T ENST00000369887.3 - 5 961 c.790G>A c.(790-792)Gac>Aac p.D264N CYP17A1-AS1_ENST00000369884.4_RNA NM_000102.3 NP_000093.1 P05093 CP17A_HUMAN cytochrome P450, family 17, subfamily A, polypeptide 1 264 androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process endoplasmic reticulum membrane electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 18 Colorectal(252;0.122)|all_hematologic(284;0.152) Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) NADH(DB00157)|Progesterone(DB00396) ATCAGTGTGTCCAGCATGTTG 0.493000 34 19 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179515513 179515513 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:179515513G>A ENST00000589042.1 - 209 39898 c.39674C>T c.(39673-39675)cCt>cTt p.P13225L TTN_ENST00000342992.6_Missense_Mutation_p.P10791L|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P11718L|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 11580 Ig-like 88. 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) TTCTGGAACAGGAACAGCTGG 0.403000 3 9 0 0 1 0 0 BRMS1 25855 broad.mit.edu 37 11 66108723 66108723 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:66108723G>A ENST00000359957.3 - 4 472 c.312C>T c.(310-312)ccC>ccT p.P104P BRMS1_ENST00000425825.2_Silent_p.P104P NM_015399.3 NP_056214.1 Q9HCU9 BRMS1_HUMAN breast cancer metastasis suppressor 1 104 apoptosis|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of anoikis|positive regulation of protein deacetylation|transcription, DNA-dependent cytoplasm|nucleus NF-kappaB binding large_intestine(1)|liver(1)|lung(1)|prostate(1)|skin(1) 5 GCCCCCCAAGGGGCTCCGTGT 0.617000 25 43 0 0 1 0 0 SORL1 6653 broad.mit.edu 37 11 121495971 121495971 + Missense_Mutation SNP G G A rs144806633 TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:121495971G>A ENST00000260197.7 + 46 6478 c.6349G>A c.(6349-6351)Gat>Aat p.D2117N SORL1_ENST00000532694.1_Missense_Mutation_p.D963N|SORL1_ENST00000534286.1_Missense_Mutation_p.D1027N|SORL1_ENST00000527934.1_Missense_Mutation_p.D732N|SORL1_ENST00000525532.1_Missense_Mutation_p.D1061N NM_003105.5 NP_003096.1 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 2117 Fibronectin type-III 6. 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) CCTGCTGTACGATGAGCTGGG 0.478000 35 36 0 0 1 0 0 SEMG1 6406 broad.mit.edu 37 20 43837308 43837308 + Missense_Mutation SNP G G A rs137914795 byFrequency TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr20:43837308G>A ENST00000372781.3 + 2 1427 c.1370G>A c.(1369-1371)cGa>cAa p.R457Q SEMG1_ENST00000244069.6_Missense_Mutation_p.R397Q NM_003007.3 NP_002998.1 semenogelin I cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1) 32 Myeloproliferative disorder(115;0.0122) AACAACGACCGAAACCCATTA 0.393000 47 106 0 0 1 0 0 LOC100128164 100128164 broad.mit.edu 37 3 169664630 169664630 + RNA SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:169664630C>T ENST00000483289.2 - 0 2664 RP11-379K17.4_ENST00000487580.1_RNA NR_027622.1 AAAACAACTTCCAACGTGCTG 0.522000 4 5 0 0 1 0 0 HSPG2 3339 broad.mit.edu 37 1 22206686 22206686 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:22206686G>A ENST00000374695.3 - 17 2336 c.2257C>T c.(2257-2259)Cct>Tct p.P753S NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 753 Laminin EGF-like 1; second part. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) GGCCCACCAGGCACCCGAGTG 0.597000 9 59 0 0 1 0 0 MYO5B 4645 broad.mit.edu 37 18 47480802 47480802 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr18:47480802G>A ENST00000285039.7 - 13 1848 c.1549C>T c.(1549-1551)Ccc>Tcc p.P517S NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 517 Myosin head-like. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) GTTCCTTTGGGGACCTGCAGA 0.572000 22 40 0 0 1 0 0 NTRK3 4916 broad.mit.edu 37 15 88423503 88423503 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr15:88423503C>T ENST00000394480.1 - 18 2611 c.2290G>A c.(2290-2292)Gag>Aag p.E764K NTRK3_ENST00000355254.2_Missense_Mutation_p.E764K|NTRK3_ENST00000360948.2_Missense_Mutation_p.E778K|NTRK3_ENST00000357724.2_Missense_Mutation_p.E770K|NTRK3_ENST00000557856.1_Missense_Mutation_p.E756K NM_001243101.1|NM_002530.3 NP_001230030.1|NP_002521.2 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 778 Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(238) breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2) 119 BRCA - Breast invasive adenocarcinoma(143;0.211) CTTTTTACCTCCGTGTTTGAG 0.502000 T ETV6 """congenital fibrosarcoma, Secretory breast """ TSP Lung(13;0.10) 21 69 0 0 1 0 0 HEPHL1 341208 broad.mit.edu 37 11 93803566 93803566 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:93803566G>A ENST00000315765.9 + 6 1098 c.1090G>A c.(1090-1092)Gat>Aat p.D364N NM_001098672.1 NP_001092142.1 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 364 Plastocyanin-like 2. copper ion transport integral to membrane copper ion binding|oxidoreductase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 61 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) ATACAATGTTGATAACTGCAA 0.413000 5 8 0 0 1 0 0 LTA 4049 broad.mit.edu 37 6 31540711 31540711 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:31540711C>T ENST00000454783.1 + 3 364 c.106C>T c.(106-108)Cct>Tct p.P36S LTA_ENST00000418386.2_Missense_Mutation_p.P36S NM_001159740.2 NP_001153212.1 P01374 TNFB_HUMAN lymphotoxin alpha 36 cell-cell signaling|induction of apoptosis|signal transduction extracellular space|membrane cytokine activity|tumor necrosis factor receptor binding endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1) 9 Etanercept(DB00005) CTAGGGGCTCCCTGGTGTTGG 0.632000 36 25 0 0 1 0 0 PILRA 29992 broad.mit.edu 37 7 99971862 99971862 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:99971862C>T ENST00000198536.2 + 2 472 c.260C>T c.(259-261)cCt>cTt p.P87L PILRA_ENST00000350573.2_Missense_Mutation_p.P87L|PILRA_ENST00000394000.2_Missense_Mutation_p.P87L|PILRA_ENST00000474013.1_3'UTR|PILRA_ENST00000453419.1_Missense_Mutation_p.P87L NM_013439.2 NP_038467.2 Q9UKJ1 PILRA_HUMAN paired immunoglobin-like type 2 receptor alpha 87 Ig-like V-type. interspecies interaction between organisms extracellular region|integral to membrane|plasma membrane protein binding|receptor activity endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1) 15 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) ACAAGGCCGCCTTCCATTCAC 0.552000 45 86 0 0 1 0 0 OR2A25 392138 broad.mit.edu 37 7 143771847 143771847 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:143771847G>A ENST00000408898.2 + 1 573 c.535G>A c.(535-537)Gaa>Aaa p.E179K NM_001004488.1 NP_001004488.1 A4D2G3 O2A25_HUMAN olfactory receptor, family 2, subfamily A, member 25 179 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Melanoma(164;0.0783) CTTTTTCTGTGAAATTATGGC 0.463000 60 104 0 0 1 0 0 BLCAP 10904 broad.mit.edu 37 20 36147523 36147523 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr20:36147523G>A ENST00000414542.2 - 3 501 c.54C>T c.(52-54)aaC>aaT p.N18N BLCAP_ENST00000397134.1_Silent_p.N18N|BLCAP_ENST00000397135.1_Silent_p.N18N|BLCAP_ENST00000467603.1_Intron|BLCAP_ENST00000373537.2_Silent_p.N18N|BLCAP_ENST00000397131.1_Silent_p.N18N|BLCAP_ENST00000397137.1_Silent_p.N18N NM_001167820.1|NM_001167823.1 NP_001161292.1|NP_001161295.1 P62952 BLCAP_HUMAN bladder cancer associated protein 18 apoptosis|cell cycle integral to membrane breast(1)|large_intestine(1)|lung(2)|stomach(1) 5 Myeloproliferative disorder(115;0.00878) ACAGGGCGGGGTTGAGGGGCT 0.612000 9 15 0 0 1 0 0 ZNF727 442319 broad.mit.edu 37 7 63538735 63538735 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:63538735C>T ENST00000550760.3 + 4 1487 c.1308C>T c.(1306-1308)ttC>ttT p.F436F NM_001159522.1 NP_001152994.1 A8MUV8 ZN727_HUMAN zinc finger protein 727 436 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1) 8 TTAAGTGGTTCCCAGACCTGA 0.393000 4 9 0 0 1 0 0 ZNF804A 91752 broad.mit.edu 37 2 185801664 185801664 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:185801664G>A ENST00000302277.6 + 4 2135 c.1541G>A c.(1540-1542)gGa>gAa p.G514E NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 514 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 TATGAAATTGGAAGTAGCAAA 0.398000 33 56 0 0 1 0 0 GABRR3 200959 broad.mit.edu 37 3 97753802 97753802 + RNA SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:97753802G>A ENST00000472788.1 - 0 31 NM_001105580.2 NP_001099050.1 A8MPY1 GBRR3_HUMAN gamma-aminobutyric acid (GABA) A receptor, rho 3 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity large_intestine(2)|lung(1) 3 AGATGTAGGTGAAGGAGACTA 0.423000 9 18 0 0 1 0 0 SLC9A4 389015 broad.mit.edu 37 2 103121827 103121827 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:103121827G>A ENST00000295269.4 + 4 1552 c.1095G>A c.(1093-1095)ttG>ttA p.L365L NM_001011552.3 NP_001011552.2 Q6AI14 SL9A4_HUMAN solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4 365 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 GCGAGACCTTGATCTTCATCT 0.493000 19 44 0 0 1 0 0 GABPA 2551 broad.mit.edu 37 21 27141393 27141393 + Silent SNP T T A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr21:27141393T>A ENST00000354828.3 + 10 1742 c.1215T>A c.(1213-1215)acT>acA p.T405T GABPA_ENST00000400075.3_Silent_p.T405T NM_001197297.1 NP_001184226.1 Q06546 GABPA_HUMAN GA binding protein transcription factor, alpha subunit 60kDa 405 positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 24 ACTTGAAGACTCTTATTGGAT 0.393000 69 104 0 0 1 0 0 NPAP1 23742 broad.mit.edu 37 15 24921274 24921274 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr15:24921274C>T ENST00000329468.2 + 1 734 c.260C>T c.(259-261)gCt>gTt p.A87V NM_018958.2 NP_061831.2 nuclear pore associated protein 1 GTCCTGCCGGCTGTGGGTTGG 0.682000 7 26 0 0 1 0 0 PLXNA3 55558 broad.mit.edu 37 X 153691743 153691743 + Missense_Mutation SNP G G T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chrX:153691743G>T ENST00000369682.3 + 5 1502 c.1327G>T c.(1327-1329)Gat>Tat p.D443Y NM_017514.3 NP_059984.2 P51805 PLXA3_HUMAN plexin A3 443 Sema. axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 48 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) GGTGCGGGTCGATGGCTTCCA 0.612000 89 28 3.85665e-30 3.91664e-30 1 1 0 CNOT4 4850 broad.mit.edu 37 7 135047787 135047787 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:135047787G>A ENST00000541284.1 - 12 2322 c.1992C>T c.(1990-1992)atC>atT p.I664I CNOT4_ENST00000423368.2_Silent_p.I593I|CNOT4_ENST00000473470.1_5'UTR|CNOT4_ENST00000361528.4_Silent_p.I590I|CNOT4_ENST00000451834.1_Silent_p.I661I NM_001190849.1|NM_001190850.1 NP_001177778.1|NP_001177779.1 O95628 CNOT4_HUMAN CCR4-NOT transcription complex, subunit 4 330 nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1) 22 TGTGCAGCGGGATCTGTGTGC 0.612000 76 103 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179436060 179436060 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:179436060G>A ENST00000589042.1 - 326 75023 c.74799C>T c.(74797-74799)atC>atT p.I24933I TTN_ENST00000342992.6_Silent_p.I22365I|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.I23292I|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.I15868I|TTN_ENST00000342175.6_Silent_p.I16060I|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.I15993I|TTN-AS1_ENST00000456053.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 23292 Fibronectin type-III 81. 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) CTCCATCACTGATTGGCTCAT 0.453000 24 40 0 0 1 0 0 TACC2 10579 broad.mit.edu 37 10 123892199 123892199 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr10:123892199C>T ENST00000369005.1 + 6 5989 c.5649C>T c.(5647-5649)tcC>tcT p.S1883S TACC2_ENST00000515273.1_Silent_p.S1932S|TACC2_ENST00000493951.1_Intron|TACC2_ENST00000334433.3_Silent_p.S1883S|TACC2_ENST00000515603.1_Silent_p.S1883S|TACC2_ENST00000453444.2_Silent_p.S1932S|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000358010.1_Silent_p.S74S|TACC2_ENST00000513429.1_Silent_p.S74S NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 1883 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) CTGCCTCTTCCTACCACGGTG 0.582000 17 34 0 0 1 0 0 NAMPT 10135 broad.mit.edu 37 7 105893480 105893480 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:105893480G>A ENST00000222553.3 - 10 1655 c.1348C>T c.(1348-1350)Ctt>Ttt p.L450F NM_005746.2 NP_005737.1 P43490 NAMPT_HUMAN nicotinamide phosphoribosyltransferase 450 cell-cell signaling|NAD biosynthetic process|nicotinamide metabolic process|positive regulation of cell proliferation|positive regulation of nitric-oxide synthase biosynthetic process|signal transduction|water-soluble vitamin metabolic process cytosol cytokine activity|nicotinamide phosphoribosyltransferase activity|nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 14 TATTCCTCAAGGTCTCCTTTT 0.398000 26 43 0 0 1 0 0 SFRP4 6424 broad.mit.edu 37 7 37954009 37954009 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:37954009C>T ENST00000436072.2 - 2 869 c.492G>A c.(490-492)agG>agA p.R164R EPDR1_ENST00000476620.1_Intron NM_003014.3 NP_003005.2 Q6FHJ7 SFRP4_HUMAN secreted frizzled-related protein 4 164 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 CATCAAGAGGCCTTTCCTGTA 0.478000 20 29 0 0 1 0 0 POM121L12 285877 broad.mit.edu 37 7 53103671 53103671 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:53103671C>T ENST00000408890.4 + 1 323 c.307C>T c.(307-309)Ccc>Tcc p.P103S NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 103 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 CCCTGCCCTTCCCGGGGAGAC 0.726000 18 25 0 0 1 0 0 C7 730 broad.mit.edu 37 5 40934527 40934527 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:40934527C>T ENST00000313164.9 + 4 598 c.239C>T c.(238-240)cCa>cTa p.P80L NM_000587.2 NP_000578.2 P10643 CO7_HUMAN complement component 7 80 TSP type-1 1. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) AGAGGATGTCCAACAGAGGAG 0.468000 34 97 0 0 1 0 0 SULF1 23213 broad.mit.edu 37 8 70476323 70476323 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:70476323G>A ENST00000260128.4 + 5 830 c.113G>A c.(112-114)cGa>cAa p.R38Q SULF1_ENST00000458141.2_Missense_Mutation_p.R38Q|SULF1_ENST00000402687.4_Missense_Mutation_p.R38Q|SULF1_ENST00000419716.3_Missense_Mutation_p.R38Q NM_015170.2 NP_055985.2 Q8IWU6 SULF1_HUMAN sulfatase 1 38 apoptosis|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)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) CAGCAGGAACGAAAAAACATC 0.493000 28 47 0 0 1 0 0 AKAP13 11214 broad.mit.edu 37 15 86261364 86261364 + Missense_Mutation SNP T T A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr15:86261364T>A ENST00000394518.2 + 22 6070 c.5975T>A c.(5974-5976)gTg>gAg p.V1992E AKAP13_ENST00000361243.2_Missense_Mutation_p.V1996E|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000394510.2_Missense_Mutation_p.V237E NM_001270546.1|NM_007200.3 NP_001257475.1|NP_009131.2 Q12802 AKP13_HUMAN A kinase (PRKA) anchor protein 13 1992 Interaction with ESR1. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 98 AAGAAAGATGTGGTCAAACGG 0.383000 10 45 0 0 1 0 0 KEL 3792 broad.mit.edu 37 7 142658496 142658496 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:142658496G>A ENST00000355265.2 - 3 648 c.174C>T c.(172-174)ctC>ctT p.L58L KEL_ENST00000479768.2_5'UTR NM_000420.2 NP_000411.1 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 58 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) AAAAACAAAGGAGCAGGCCCA 0.582000 21 29 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62286124 62286124 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:62286124G>A ENST00000378024.4 - 5 16039 c.15765C>T c.(15763-15765)gtC>gtT p.V5255V AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 5255 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) GCTGGGCATGGACCTCGGCTC 0.522000 39 82 0 0 1 0 0 TNFRSF4 7293 broad.mit.edu 37 1 1147204 1147204 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:1147204C>T ENST00000379236.3 - 6 647 c.643G>A c.(643-645)Gtt>Att p.V215I NM_003327.3 NP_003318.1 P43489 TNR4_HUMAN tumor necrosis factor receptor superfamily, member 4 215 immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation integral to plasma membrane tumor necrosis factor receptor activity large_intestine(1)|lung(2)|urinary_tract(1) 4 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;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) ATGGCGGCAACCGCACGGCCT 0.736000 3 0 0 0 1 0 0 PREX2 80243 broad.mit.edu 37 8 69020458 69020458 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:69020458G>A ENST00000288368.4 + 24 3107 c.2830G>A c.(2830-2832)Gaa>Aaa p.E944K NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 944 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 CAATGTGATGGAAGTTTCTTA 0.418000 17 30 0 0 1 0 0 SIGLEC12 89858 broad.mit.edu 37 19 52002861 52002861 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:52002861C>T ENST00000291707.3 - 3 973 c.918G>A c.(916-918)acG>acA p.T306T SIGLEC12_ENST00000598614.1_Silent_p.T188T NM_053003.2 NP_443729.1 Q96PQ1 SIG12_HUMAN sialic acid binding Ig-like lectin 12 (gene/pseudogene) 306 Ig-like C2-type 1. cell adhesion integral to membrane sugar binding NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2) 61 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102) TCCAGGTGATCGTGGGGGGCG 0.667000 28 35 0 0 1 0 0 ALPK2 115701 broad.mit.edu 37 18 56202405 56202405 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr18:56202405G>A ENST00000361673.3 - 5 5227 c.5014C>T c.(5014-5016)Cca>Tca p.P1672S NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 1672 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 TTTTGACATGGATCCTGCAGT 0.532000 29 62 0 0 1 0 0 MIP 4284 broad.mit.edu 37 12 56848294 56848294 + Missense_Mutation SNP G G T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:56848294G>T ENST00000257979.4 - 1 132 c.104C>A c.(103-105)gCt>gAt p.A35D MIP_ENST00000555551.1_Intron NM_012064.3 NP_036196.1 P30301 MIP_HUMAN major intrinsic protein of lens fiber 35 response to stimulus|visual perception gap junction|integral to plasma membrane structural constituent of eye lens kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|urinary_tract(1) 16 GGGTCCAGGAGCCCAGCGCAG 0.577000 16 67 6.72482e-11 6.78121e-11 1 1 0 DSCAML1 57453 broad.mit.edu 37 11 117391965 117391965 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:117391965C>T ENST00000321322.6 - 6 1274 c.1273G>A c.(1273-1275)Ggg>Agg p.G425R DSCAML1_ENST00000527706.1_Missense_Mutation_p.G155R NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 365 Ig-like C2-type 5. 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) TTGCTGAGCCCGCGGATGGAG 0.647000 60 94 0 0 1 0 0 RAP1GDS1 5910 broad.mit.edu 37 4 99355100 99355100 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr4:99355100C>T ENST00000408927.3 + 13 1567 c.1454C>T c.(1453-1455)aCc>aTc p.T485I RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.T486I|RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.T436I|RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.T437I|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.T485I|RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.T394I NM_001100426.1|NM_001100427.1|NM_021159.4 NP_001093896.1|NP_001093897.1|NP_066982.3 P52306 GDS1_HUMAN RAP1, GTP-GDP dissociation stimulator 1 485 binding|GTPase activator activity breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1) 28 OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576) GTAATTAAAACCATTGTGCAG 0.333000 T NUP98 T-ALL 13 28 0 0 1 0 0 COPS7B 64708 broad.mit.edu 37 2 232660830 232660830 + Silent SNP C C T rs144978316 byFrequency TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:232660830C>T ENST00000373608.3 + 5 449 c.342C>T c.(340-342)tcC>tcT p.S114S COPS7B_ENST00000409295.1_Silent_p.S80S|COPS7B_ENST00000350033.3_Silent_p.S114S|COPS7B_ENST00000410017.1_Silent_p.S114S|COPS7B_ENST00000410024.1_Silent_p.S114S|COPS7B_ENST00000409091.1_Silent_p.S7S Q9H9Q2 CSN7B_HUMAN COP9 signalosome subunit 7B 114 PCI. cullin deneddylation cytoplasm|signalosome large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1) 8 all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Renal(207;0.025) Epithelial(121;1.36e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00136)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142) TCCCCTACTCCGTGTTGCTGA 0.478000 19 26 0 0 1 0 0 SLC14A1 6563 broad.mit.edu 37 18 43329747 43329747 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr18:43329747G>A ENST00000321925.4 + 10 1233 c.1001G>A c.(1000-1002)gGa>gAa p.G334E SLC14A1_ENST00000436407.3_Missense_Mutation_p.G390E|SLC14A1_ENST00000502059.2_Missense_Mutation_p.G226E|SLC14A1_ENST00000591541.1_Missense_Mutation_p.G38E|SLC14A1_ENST00000589700.1_Missense_Mutation_p.D285N|SLC14A1_ENST00000535474.1_Missense_Mutation_p.G202E|SLC14A1_ENST00000415427.3_Missense_Mutation_p.G390E|SLC14A1_ENST00000402943.2_Missense_Mutation_p.G229E|SLC14A1_ENST00000586142.1_Missense_Mutation_p.G334E NM_001128588.3|NM_001146036.2|NM_015865.6 NP_001122060.3|NP_001139508.2|NP_056949.4 Q13336 UT1_HUMAN solute carrier family 14 (urea transporter), member 1 334 integral to plasma membrane urea transmembrane transporter activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 21 CCCCAGGTTGGATTGCCAGCT 0.512000 28 48 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140994790 140994790 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chrX:140994790C>T ENST00000285879.4 + 4 1886 c.1600C>T c.(1600-1602)Cca>Tca p.P534S MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 534 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) CCAGATTGTTCCAAGTCTTCC 0.522000 HNSCC(15;0.026) 103 32 0 0 1 0 0 ZFP28 140612 broad.mit.edu 37 19 57065936 57065936 + Silent SNP C C T rs61734808 byFrequency TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:57065936C>T ENST00000301318.3 + 8 1853 c.1782C>T c.(1780-1782)tgC>tgT p.C594C AC007228.11_ENST00000596587.1_RNA NM_020828.1 NP_065879.1 Q8NHY6 ZFP28_HUMAN ZFP28 zinc finger protein 594 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 35 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0302) GTAAAGAGTGCGGAAAAGCTT 0.413000 45 41 0 0 1 0 0 TRPV5 56302 broad.mit.edu 37 7 142622633 142622633 + Missense_Mutation SNP T T A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:142622633T>A ENST00000265310.1 - 8 1461 c.1113A>T c.(1111-1113)aaA>aaT p.K371N TRPV5_ENST00000442623.1_Missense_Mutation_p.K371N NM_019841.4 NP_062815.2 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, subfamily V, member 5 371 protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 67 Melanoma(164;0.059) CCTGTAGTAGTTTTTGCTGGA 0.522000 27 34 0 0 1 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178562941 178562941 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:178562941G>A ENST00000251582.7 - 13 2155 c.2054C>T c.(2053-2055)gCc>gTc p.A685V NM_014244.4 NP_055059.2 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 2 685 Cys-rich. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) GAGGCTGAAGGCGTCCTTGTA 0.637000 33 40 0 0 1 0 0 HIPK2 28996 broad.mit.edu 37 7 139316456 139316456 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:139316456G>A ENST00000406875.3 - 3 1213 c.1119C>T c.(1117-1119)atC>atT p.I373I HIPK2_ENST00000342645.6_Silent_p.I373I|HIPK2_ENST00000428878.2_Silent_p.I373I NM_022740.4 NP_073577.3 Q9H2X6 HIPK2_HUMAN homeodomain interacting protein kinase 2 373 Interaction with DAXX.|Protein kinase. apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction centrosome|nuclear membrane|PML body ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Melanoma(164;0.205) GTAAACCAAGGATGATCTCAG 0.448000 24 17 0 0 1 0 0 ACSL5 51703 broad.mit.edu 37 10 114136167 114136167 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr10:114136167C>T ENST00000356116.1 + 1 212 c.100C>T c.(100-102)Cat>Tat p.H34Y ACSL5_ENST00000354655.4_Intron|ACSL5_ENST00000433418.1_5'UTR|ACSL5_ENST00000393081.1_Intron|ACSL5_ENST00000354273.4_5'UTR|ACSL5_ENST00000479936.1_Intron NM_016234.3 NP_057318.2 Q9ULC5 ACSL5_HUMAN acyl-CoA synthetase long-chain family member 5 0 fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane ATP binding|long-chain fatty acid-CoA ligase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1) 21 Colorectal(252;0.117)|Breast(234;0.222) Epithelial(162;0.0343)|all cancers(201;0.137) GGGAAGCCCCCATTCACTAGA 0.602000 43 24 0 0 1 0 0 CCDC88C 440193 broad.mit.edu 37 14 91780202 91780202 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr14:91780202G>A ENST00000389857.6 - 15 2044 c.1958C>T c.(1957-1959)tCc>tTc p.S653F NM_001080414.3 NP_001073883.2 Q9P219 DAPLE_HUMAN coiled-coil domain containing 88C 653 microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway cytoplasm|insoluble fraction microtubule binding|PDZ domain binding|protein self-association central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1) 24 all_cancers(154;0.0468) TGTCTCCAGGGAGGTCACCTT 0.632000 13 5 0 0 1 0 0 BCAS4 55653 broad.mit.edu 37 20 49434759 49434759 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr20:49434759G>A ENST00000358791.5 + 2 292 c.192G>A c.(190-192)gtG>gtA p.V64V BCAS4_ENST00000485049.1_3'UTR|BCAS4_ENST00000371608.2_Silent_p.V64V|BCAS4_ENST00000262591.5_Silent_p.V64V NM_017843.3 NP_060313.3 Q8TDM0 BCAS4_HUMAN breast carcinoma amplified sequence 4 64 cytoplasm large_intestine(2)|lung(2)|pancreas(1)|upper_aerodigestive_tract(1) 6 CGAAGGAGGTGGAGGAGACCA 0.507000 OREG0026033 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 19 0 0 1 0 0 TRAV3 28690 broad.mit.edu 37 14 22192552 22192552 + RNA SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr14:22192552C>T ENST00000390425.2 + 0 503 CTTTGTACTTCTGTGCTGTGA 0.473000 15 1 0 0 1 0 0 PLA2G4D 283748 broad.mit.edu 37 15 42379612 42379612 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr15:42379612C>T ENST00000290472.3 - 3 235 c.141G>A c.(139-141)gtG>gtA p.V47V NM_178034.3 NP_828848.3 Q86XP0 PA24D_HUMAN phospholipase A2, group IVD (cytosolic) 47 C2. phospholipid catabolic process cytoplasmic vesicle membrane|cytosol metal ion binding|phospholipase A2 activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1) 27 all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245) OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06) GCTGTAGGATCACGTAAGGGT 0.542000 62 72 0 0 1 0 0 SPATA4 132851 broad.mit.edu 37 4 177114725 177114725 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr4:177114725G>A ENST00000280191.2 - 2 335 c.227C>T c.(226-228)tCa>tTa p.S76L SPATA4_ENST00000515234.1_5'UTR NM_144644.2 NP_653245.2 Q8NEY3 SPAT4_HUMAN spermatogenesis associated 4 76 apoptosis|spermatogenesis NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10) 22 Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124) all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096) gaagccatttgaaaaatctct 0.303000 15 4 0 0 1 0 0 CARD16 114769 broad.mit.edu 37 11 104912355 104912355 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:104912355C>T ENST00000375706.2 - 3 383 c.366G>A c.(364-366)agG>agA p.R122R CASP1_ENST00000598974.1_Intron|CASP1_ENST00000594519.1_Intron|CARD16_ENST00000375704.3_3'UTR|CASP1_ENST00000593315.1_Intron|CARD16_ENST00000525374.1_3'UTR|CASP1_ENST00000415981.2_Intron NM_001017534.1 NP_001017534.1 caspase recruitment domain family, member 16 endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 11 GTTTCCATATCCTTTGAGCGT 0.443000 21 46 0 0 1 0 0 CBLB 868 broad.mit.edu 37 3 105400333 105400333 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:105400333G>A ENST00000264122.4 - 16 2739 c.2418C>T c.(2416-2418)atC>atT p.I806I CBLB_ENST00000407712.1_Intron|CBLB_ENST00000394027.3_Intron|CBLB_ENST00000403724.1_3'UTR|CBLB_ENST00000405772.1_Silent_p.I806I NM_170662.3 NP_733762.2 Q13191 CBLB_HUMAN Cbl proto-oncogene B, E3 ubiquitin protein ligase 806 Pro-rich. 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 CTAATGGAGGGATGAGAAGAT 0.438000 Mis S AML 21 51 0 0 1 0 0 ST3GAL4 6484 broad.mit.edu 37 11 126276448 126276448 + Nonsense_Mutation SNP G G T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:126276448G>T ENST00000526727.1 + 2 471 c.97G>T c.(97-99)Gag>Tag p.E33* ST3GAL4_ENST00000532243.1_Nonsense_Mutation_p.E32*|ST3GAL4_ENST00000534083.1_Nonsense_Mutation_p.E33*|ST3GAL4_ENST00000526756.1_3'UTR|ST3GAL4_ENST00000392669.2_Nonsense_Mutation_p.E33*|ST3GAL4_ENST00000534457.1_Intron|ST3GAL4_ENST00000449406.2_Nonsense_Mutation_p.E22*|ST3GAL4_ENST00000227495.6_Intron|ST3GAL4_ENST00000356132.4_Nonsense_Mutation_p.E33*|ST3GAL4_ENST00000444328.2_Nonsense_Mutation_p.E33*|ST3GAL4_ENST00000530591.1_Intron Q11206 SIA4C_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 4 33 post-translational protein modification|protein N-linked glycosylation via asparagine extracellular region|Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,3-sialyltransferase activity endometrium(1)|large_intestine(2)|lung(5)|stomach(1) 9 all_hematologic(175;0.145) Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767) CAGGTACATCGAGCTGTGAGT 0.577000 23 57 4.26978e-12 4.30938e-12 1 1 0 MGAM 8972 broad.mit.edu 37 7 141722209 141722209 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:141722209C>T ENST00000475668.2 + 7 906 c.852C>T c.(850-852)ccC>ccT p.P284P MGAM_ENST00000549489.2_Silent_p.P284P O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 284 Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) AGACCTGGCCCATATTTAACA 0.463000 15 75 0 0 1 0 0 KIAA1217 56243 broad.mit.edu 37 10 24784116 24784116 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr10:24784116G>A ENST00000376451.2 + 3 1134 c.874G>A c.(874-876)Gat>Aat p.D292N KIAA1217_ENST00000307544.6_Missense_Mutation_p.D292N|KIAA1217_ENST00000396446.1_Missense_Mutation_p.D292N|KIAA1217_ENST00000376452.3_Missense_Mutation_p.D574N|KIAA1217_ENST00000396445.1_Missense_Mutation_p.D292N|KIAA1217_ENST00000376454.3_Missense_Mutation_p.D609N|KIAA1217_ENST00000458595.1_Missense_Mutation_p.D574N|KIAA1217_ENST00000430453.2_Missense_Mutation_p.D495N|KIAA1217_ENST00000376462.1_Missense_Mutation_p.D529N Q5T5P2 SKT_HUMAN KIAA1217 609 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 GAACCACACAGATAGTGCAGG 0.423000 33 16 0 0 1 0 0 LRRN4 164312 broad.mit.edu 37 20 6021914 6021914 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr20:6021914C>T ENST00000378858.4 - 5 2201 c.1977G>A c.(1975-1977)ttG>ttA p.L659L NM_152611.4 NP_689824.2 Q8WUT4 LRRN4_HUMAN leucine rich repeat neuronal 4 659 Fibronectin type-III. integral to membrane breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2) 27 GTGGCTGGCTCAAGCCCGCCC 0.726000 14 22 0 0 1 0 0 TEX15 56154 broad.mit.edu 37 8 30703301 30703301 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:30703301G>A ENST00000256246.2 - 1 3307 c.3233C>T c.(3232-3234)cCa>cTa p.P1078L NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 1078 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) ATCAGCTTTTGGAGCTCTTTT 0.333000 18 31 0 0 1 0 0 ODC1 4953 broad.mit.edu 37 2 10583845 10583845 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:10583845G>A ENST00000234111.4 - 6 1077 c.567C>T c.(565-567)atC>atT p.I189I ODC1_ENST00000405333.1_Silent_p.I189I NM_002539.1 NP_002530.1 P11926 DCOR_HUMAN ornithine decarboxylase 1 189 polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus cytosol ornithine decarboxylase activity|protein binding NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3) 19 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161) Pyridoxal Phosphate(DB00114)|Spermine(DB00127) CAACAACATCGATATTTAGCT 0.453000 25 80 0 0 1 0 0 NRXN2 9379 broad.mit.edu 37 11 64418968 64418968 + Missense_Mutation SNP T T C TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:64418968T>C ENST00000265459.6 - 14 3138 c.2677A>G c.(2677-2679)Atg>Gtg p.M893V AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000377551.1_Missense_Mutation_p.M893V|NRXN2_ENST00000409571.1_Missense_Mutation_p.M886V|NRXN2_ENST00000377559.3_Missense_Mutation_p.M853V NM_015080.3 NP_055895.1 Q9P2S2 NRX2A_HUMAN neurexin 2 893 Laminin G-like 4. cell adhesion integral to membrane metal ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 71 CACTGGTCCATGTAGGGCTGG 0.582000 OREG0021057 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 30 0 0 1 0 0 SLC7A7 9056 broad.mit.edu 37 14 23282270 23282270 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr14:23282270C>T ENST00000397532.3 - 2 863 c.338G>A c.(337-339)gGa>gAa p.G113E SLC7A7_ENST00000397529.2_Missense_Mutation_p.G113E|SLC7A7_ENST00000397528.4_Missense_Mutation_p.G113E|SLC7A7_ENST00000285850.7_Missense_Mutation_p.G113E|SLC7A7_ENST00000555702.1_Missense_Mutation_p.G113E|SLC7A7_ENST00000554517.1_Intron Q9UM01 YLAT1_HUMAN solute carrier family 7 (amino acid transporter light chain, y+L system), member 7 113 blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly basolateral plasma membrane|integral to plasma membrane amino acid transmembrane transporter activity breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2) 20 all_cancers(95;8.44e-05) GBM - Glioblastoma multiforme(265;0.00741) AGCAAGGAATCCTCCAAAGGC 0.537000 82 33 0 0 1 0 0 NLE1 54475 broad.mit.edu 37 17 33466921 33466921 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr17:33466921G>A ENST00000442241.4 - 3 366 c.327C>T c.(325-327)tcC>tcT p.S109S NLE1_ENST00000360831.5_Silent_p.S109S|NLE1_ENST00000593176.1_5'UTR|NLE1_ENST00000586869.1_5'UTR NM_001014445.1|NM_018096.3 NP_001014445.1|NP_060566.2 Q9NVX2 NLE1_HUMAN notchless homolog 1 (Drosophila) 109 nucleolus NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2) 22 Ovarian(249;0.17) GACCCTCCAAGGAGCTGGTGC 0.577000 22 50 0 0 1 0 0 ZNF81 347344 broad.mit.edu 37 X 47775351 47775351 + Missense_Mutation SNP C C G TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chrX:47775351C>G ENST00000376954.1 + 6 1674 c.1306C>G c.(1306-1308)Cat>Gat p.H436D ZNF81_ENST00000338637.7_Missense_Mutation_p.H436D P51508 ZNF81_HUMAN zinc finger protein 81 436 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|large_intestine(1)|lung(1)|skin(1) 4 all_lung(315;0.0973) TCAGAGAATTCATACAGGAGA 0.433000 22 4 0 0 1 0 0 DENND1A 57706 broad.mit.edu 37 9 126520032 126520032 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr9:126520032G>A ENST00000373624.2 - 5 453 c.252C>T c.(250-252)ttC>ttT p.F84F DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000394215.2_Silent_p.F54F|DENND1A_ENST00000373618.1_Silent_p.F52F|DENND1A_ENST00000394219.3_Silent_p.F52F|DENND1A_ENST00000373620.3_Silent_p.F84F NM_020946.1 NP_065997.1 Q8TEH3 DEN1A_HUMAN DENN/MADD domain containing 1A 84 UDENN. cell junction|clathrin coated vesicle membrane|presynaptic membrane guanyl-nucleotide exchange factor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 GGCAGAACCCGAATCTCTGTT 0.493000 26 3 0 0 1 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887371 12887371 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:12887371C>T ENST00000535591.1 - 3 681 c.486G>A c.(484-486)gtG>gtA p.V162V NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 162 NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 AGTCTAGGTTCACCATTTTCA 0.463000 53 330 0 0 1 0 0 RRP7A 27341 broad.mit.edu 37 22 42912125 42912125 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr22:42912125G>A ENST00000323013.6 - 3 249 c.234C>T c.(232-234)ctC>ctT p.L78L NM_015703.4 NP_056518.2 Q9Y3A4 RRP7A_HUMAN ribosomal RNA processing 7 homolog A (S. cerevisiae) 78 RRM. nucleotide binding|RNA binding central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 10 AGGTGGACAGGAGGCGGGACA 0.622000 17 7 0 0 1 0 0 GOT1L1 137362 broad.mit.edu 37 8 37794819 37794819 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:37794819G>A ENST00000307599.4 - 4 594 c.495C>T c.(493-495)ccC>ccT p.P165P NM_152413.2 NP_689626.2 Q8NHS2 AATC2_HUMAN glutamic-oxaloacetic transaminase 1-like 1 165 biosynthetic process|cellular amino acid metabolic process cytoplasm pyridoxal phosphate binding|transaminase activity central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1) 14 Colorectal(12;0.00627) Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;1.37e-11) GGAGTATGTCGGGGTCCATGC 0.532000 11 17 0 0 1 0 0 GRID2 2895 broad.mit.edu 37 4 94159601 94159601 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr4:94159601G>A ENST00000282020.4 + 8 1463 c.1205G>A c.(1204-1206)gGa>gAa p.G402E GRID2_ENST00000510992.1_Missense_Mutation_p.G307E NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 402 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) GAAATCCTTGGAACCAACTAT 0.413000 11 70 0 0 1 0 0 TIAM1 7074 broad.mit.edu 37 21 32502613 32502613 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr21:32502613G>A ENST00000286827.3 - 26 4434 c.3963C>T c.(3961-3963)tcC>tcT p.S1321S TIAM1_ENST00000541036.1_Silent_p.S1261S NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 1321 PH 2. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 CCTCATAAATGGAAAGCCTGT 0.527000 62 77 0 0 1 0 0 CTCFL 140690 broad.mit.edu 37 20 56078574 56078574 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr20:56078574C>T ENST00000429804.2 - 9 2168 c.1608G>A c.(1606-1608)aaG>aaA p.K536K CTCFL_ENST00000243914.3_Silent_p.K586K|CTCFL_ENST00000433949.2_Silent_p.K586K|CTCFL_ENST00000426658.2_3'UTR|CTCFL_ENST00000423479.2_Silent_p.K586K|CTCFL_ENST00000422109.2_3'UTR|CTCFL_ENST00000371196.2_Silent_p.K586K|CTCFL_ENST00000502686.2_Silent_p.K324K NM_001269046.1 NP_001255975.1 Q8NI51 CTCFL_HUMAN CCCTC-binding factor (zinc finger protein)-like 586 cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent cytoplasm|nucleus histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) TCTGCTTCCTCTTTCTTGTTC 0.507000 52 102 0 0 1 0 0 ACPP 55 broad.mit.edu 37 3 132063785 132063785 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:132063785C>T ENST00000336375.5 + 7 753 c.663C>T c.(661-663)ttC>ttT p.F221F ACPP_ENST00000475741.1_Silent_p.F188F|ACPP_ENST00000351273.7_Silent_p.F221F NM_001099.4 NP_001090.2 P15309 PPAP_HUMAN acid phosphatase, prostate 221 extracellular region|lysosomal membrane 5'-nucleotidase activity|acid phosphatase activity NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 27 TTCACAATTTCACTTTACCCT 0.398000 32 51 0 0 1 0 0 DSN1 79980 broad.mit.edu 37 20 35390870 35390870 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr20:35390870G>A ENST00000426836.1 - 6 956 c.584C>T c.(583-585)tCa>tTa p.S195L DSN1_ENST00000373740.3_Missense_Mutation_p.S123L|DSN1_ENST00000473615.1_5'UTR|DSN1_ENST00000373745.3_Missense_Mutation_p.S195L|DSN1_ENST00000373750.4_Missense_Mutation_p.S195L|DSN1_ENST00000448110.1_Missense_Mutation_p.S179L|DSN1_ENST00000373734.4_Missense_Mutation_p.S88L NM_001145316.1 NP_001138788.1 Q9H410 DSN1_HUMAN DSN1, MIS12 kinetochore complex component 195 cell division|chromosome segregation|mitotic prometaphase cytosol|MIS12/MIND type complex|nucleus protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 16 Myeloproliferative disorder(115;0.00874) TTACCCATTTGAATCTTCAAA 0.423000 5 17 0 0 1 0 0 FSTL5 56884 broad.mit.edu 37 4 162463704 162463704 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr4:162463704G>A ENST00000306100.5 - 9 1593 c.1157C>T c.(1156-1158)tCc>tTc p.S386F FSTL5_ENST00000379164.4_Missense_Mutation_p.S385F|FSTL5_ENST00000427802.2_Missense_Mutation_p.S385F|FSTL5_ENST00000536695.1_Missense_Mutation_p.S385F NM_001128427.2|NM_020116.4 NP_001121899.1|NP_064501.2 Q8N475 FSTL5_HUMAN follistatin-like 5 386 Ig-like 2. extracellular region calcium ion binding central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) GAGTTGTTTGGAAAGCTTTGG 0.388000 44 24 0 0 1 0 0 TSHZ2 128553 broad.mit.edu 37 20 51872005 51872005 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr20:51872005C>T ENST00000371497.5 + 2 2895 c.2008C>T c.(2008-2010)Ctg>Ttg p.L670L TSHZ2_ENST00000603338.2_Silent_p.L667L|TSHZ2_ENST00000329613.6_Silent_p.L667L NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 670 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) ACCCCAGCCCCTGGAGCCCAC 0.612000 19 57 0 0 1 0 0 DKK2 27123 broad.mit.edu 37 4 107847042 107847042 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr4:107847042C>T ENST00000285311.3 - 2 992 c.287G>A c.(286-288)gGa>gAa p.G96E DKK2_ENST00000513208.1_5'UTR|DKK2_ENST00000510463.1_Missense_Mutation_p.G50E NM_014421.2 NP_055236.1 Q9UBU2 DKK2_HUMAN dickkopf WNT signaling pathway inhibitor 2 96 DKK-type Cys-1. multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway extracellular space autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 32 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.34e-06) GGCCGATGATCCTTGGTGGGG 0.512000 14 59 0 0 1 0 0 ADPRHL1 113622 broad.mit.edu 37 13 114088062 114088062 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr13:114088062G>A ENST00000356501.4 - 3 429 c.254C>T c.(253-255)cCc>cTc p.P85L ADPRHL1_ENST00000375418.3_Missense_Mutation_p.P167L NM_199162.1 NP_954631.1 Q8NDY3 ARHL1_HUMAN ADP-ribosylhydrolase like 1 167 protein de-ADP-ribosylation ADP-ribosylarginine hydrolase activity|magnesium ion binding endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1) 11 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188) all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116) CTTACCTGTGGGATGGTTGTG 0.662000 4 3 0 0 1 0 0 ALB 213 broad.mit.edu 37 4 74280830 74280830 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr4:74280830C>T ENST00000295897.4 + 9 1226 c.1137C>T c.(1135-1137)acC>acT p.T379T ALB_ENST00000415165.2_Silent_p.T187T|ALB_ENST00000503124.1_Silent_p.T229T|ALB_ENST00000509063.1_Silent_p.T379T|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000401494.3_Silent_p.T264T NM_000477.5 NP_000468.1 P02768 ALBU_HUMAN albumin 379 Albumin 2. bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport extracellular space|platelet alpha granule lumen|protein complex antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 48 Breast(15;0.00102) Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137) CATATGAAACCACTCTAGAGA 0.388000 59 40 0 0 1 0 0 KCTD3 51133 broad.mit.edu 37 1 215751403 215751403 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:215751403C>T ENST00000259154.4 + 6 670 c.376C>T c.(376-378)Cat>Tat p.H126Y NM_016121.3 NP_057205.2 Q9Y597 KCTD3_HUMAN potassium channel tetramerization domain containing 3 126 voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1) 33 all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13) TGTCCTTTTTCATGGTTACTT 0.353000 12 100 0 0 1 0 0 ITGA4 3676 broad.mit.edu 37 2 182339987 182339987 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:182339987G>A ENST00000397033.2 + 4 958 c.528G>A c.(526-528)ctG>ctA p.L176L ITGA4_ENST00000339307.4_Silent_p.L176L|ITGA4_ENST00000478440.1_Intron NM_000885.4 NP_000876.3 P13612 ITA4_HUMAN integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 176 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity p.L176L(1) breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) GAACAGAACTGAGTAAAAGAA 0.343000 28 53 0 0 1 0 0 CDH13 1012 broad.mit.edu 37 16 83520158 83520158 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr16:83520158C>T ENST00000566620.1 + 7 1148 c.858C>T c.(856-858)atC>atT p.I286I CDH13_ENST00000428848.3_Silent_p.I247I|CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000268613.10_Silent_p.I333I NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4 NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1 P55290 CAD13_HUMAN cadherin 13 286 Cadherin 2. adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding large_intestine(1) 1 all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09) COAD - Colon adenocarcinoma(5;0.0268) GGTATAATATCCGTCAGCAGA 0.542000 28 31 0 0 1 0 0 NRBP2 340371 broad.mit.edu 37 8 144919303 144919303 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:144919303G>A ENST00000442628.2 - 14 1310 c.1171C>T c.(1171-1173)Ctg>Ttg p.L391L NRBP2_ENST00000327830.5_Silent_p.L148L NM_178564.3 NP_848659.2 Q9NSY0 NRBP2_HUMAN nuclear receptor binding protein 2 391 negative regulation of neuron apoptosis|neuron differentiation cytoplasm ATP binding|protein kinase activity central_nervous_system(2)|kidney(1)|large_intestine(2) 5 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) GGCAGCCCCAGGGGTCGAGTG 0.637000 27 37 0 0 1 0 0 ANKRD35 148741 broad.mit.edu 37 1 145560142 145560142 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:145560142G>A ENST00000355594.4 + 8 715 c.628G>A c.(628-630)Gct>Act p.A210T ANKRD35_ENST00000544626.1_3'UTR NM_144698.3 NP_653299.3 Q8N283 ANR35_HUMAN ankyrin repeat domain 35 210 NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1) 47 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GAGCCACGGAGCTGACGCGGG 0.582000 85 35 0 0 1 0 0 ALPI 248 broad.mit.edu 37 2 233322730 233322730 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:233322730G>A ENST00000295463.3 + 8 956 c.879G>A c.(877-879)acG>acA p.T293T NM_001631.3 NP_001622.2 P09923 PPBI_HUMAN alkaline phosphatase, intestinal 293 phosphorylation anchored to membrane|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1) 24 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;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746) CCGGAGACACGAAATATGAGA 0.622000 33 31 0 0 1 0 0 SPZ1 84654 broad.mit.edu 37 5 79616265 79616265 + Missense_Mutation SNP A A T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:79616265A>T ENST00000296739.4 + 1 476 c.231A>T c.(229-231)aaA>aaT p.K77N NM_032567.3 NP_115956.3 Q9BXG8 SPZ1_HUMAN spermatogenic leucine zipper 1 77 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2) 26 Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36) AAGAAATTAAAGATATTCTTA 0.378000 32 28 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 138425405 138425405 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:138425405C>T ENST00000409968.1 + 27 4891 c.4713C>T c.(4711-4713)ttC>ttT p.F1571F THSD7B_ENST00000413152.2_Silent_p.F1543F|THSD7B_ENST00000272643.3_Silent_p.F1574F thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) TCATGATTTTCCTAATATTTA 0.313000 4 7 0 0 1 0 0 TCHHL1 126637 broad.mit.edu 37 1 152060596 152060596 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:152060596G>A ENST00000368806.1 - 2 88 c.24C>T c.(22-24)gtC>gtT p.V8V NM_001008536.1 NP_001008536.1 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 8 calcium ion binding breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1) 60 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) TTACACAGAGGACATTTCTCA 0.473000 62 36 0 0 1 0 0 SPATA16 83893 broad.mit.edu 37 3 172834968 172834968 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:172834968G>A ENST00000351008.3 - 2 737 c.554C>T c.(553-555)tCt>tTt p.S185F NM_031955.5 NP_114161.3 Q9BXB7 SPT16_HUMAN spermatogenesis associated 16 185 cell differentiation|multicellular organismal development|spermatogenesis Golgi apparatus binding breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 43 Ovarian(172;0.00319)|Breast(254;0.197) LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14) TCTATAGCAAGAGCTGGCATC 0.418000 50 58 0 0 1 0 0 SRCAP 10847 broad.mit.edu 37 16 30721365 30721365 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr16:30721365C>T ENST00000262518.4 + 8 1435 c.1050C>T c.(1048-1050)ccC>ccT p.P350P SRCAP_ENST00000395059.2_Silent_p.P350P|SRCAP_ENST00000344771.4_Silent_p.P350P NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 350 Glu-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) CTTCCAGCCCCTCTCAAACCC 0.577000 28 30 0 0 1 0 0 SPEG 10290 broad.mit.edu 37 2 220354624 220354624 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:220354624C>T ENST00000312358.7 + 36 9016 c.8884C>T c.(8884-8886)Cct>Tct p.P2962S AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 2962 Pro-rich. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) ACAGGGTCCCCCTCAGAAACC 0.632000 23 21 0 0 1 0 0 CYP2J2 1573 broad.mit.edu 37 1 60375600 60375600 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:60375600G>A ENST00000371204.3 - 5 760 c.717C>T c.(715-717)ttC>ttT p.F239F CYP2J2_ENST00000492633.1_5'UTR NM_000775.2 NP_000766.2 P51589 CP2J2_HUMAN cytochrome P450, family 2, subfamily J, polypeptide 2 239 epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process endoplasmic reticulum membrane|microsome arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1) 26 all_cancers(7;0.000396) GTCCAGGCAGGAATTTCATTA 0.363000 9 42 0 0 1 0 0 MYOM2 9172 broad.mit.edu 37 8 2000354 2000354 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:2000354C>T ENST00000262113.4 + 3 327 c.186C>T c.(184-186)tcC>tcT p.S62S MYOM2_ENST00000523438.1_Intron NM_003970.2 NP_003961.2 P54296 MYOM2_HUMAN myomesin 2 62 muscle contraction myosin filament structural constituent of muscle autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) GCCAGACGTCCCTGGGAGGAA 0.577000 27 85 0 0 1 0 0 KERA 11081 broad.mit.edu 37 12 91449939 91449939 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:91449939G>A ENST00000266719.3 - 2 367 c.120C>T c.(118-120)ttC>ttT p.F40F NM_007035.3 NP_008966.1 O60938 KERA_HUMAN keratocan 40 LRRNT. response to stimulus|visual perception proteinaceous extracellular matrix breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2) 19 TGGGACACTCGAAGTCATGAA 0.398000 10 33 0 0 1 0 0 GIMAP8 155038 broad.mit.edu 37 7 150174466 150174466 + Silent SNP C C T rs140854559 TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:150174466C>T ENST00000307271.3 + 5 2170 c.1596C>T c.(1594-1596)ttC>ttT p.F532F NM_175571.2 NP_783161.1 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 532 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding p.F532F(1) breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) TCCTGGTGTTCCAGCTGGGAC 0.498000 21 29 0 0 1 0 0 SLC8B1 80024 broad.mit.edu 37 12 113770644 113770644 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:113770644C>T ENST00000552014.1 - 3 555 c.40G>A c.(40-42)Gtg>Atg p.V14M SLC24A6_ENST00000553238.1_5'UTR|SLC24A6_ENST00000546737.1_Missense_Mutation_p.V14M|SLC24A6_ENST00000202831.3_Missense_Mutation_p.V14M Q6J4K2 NCKX6_HUMAN 14 response to stimulus|sodium ion transport integral to membrane|plasma membrane calcium:cation antiporter activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1) 16 ACACAAAGCACACTCAGTGCC 0.582000 13 31 0 0 1 0 0 SPATA31D5P 347127 broad.mit.edu 37 9 84530324 84530324 + RNA SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr9:84530324C>T ENST00000527857.1 + 0 346 NR_026851.1 CCTCCTGCTTCCTGCAGTCCC 0.562000 4 2 0 0 1 0 0 HSD3B1 3283 broad.mit.edu 37 1 120056552 120056552 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:120056552G>A ENST00000235547.6 + 4 551 c.412G>A c.(412-414)Gaa>Aaa p.E138K HSD3B1_ENST00000528909.1_Missense_Mutation_p.E136K|HSD3B1_ENST00000369413.3_Missense_Mutation_p.E136K NM_000862.2 NP_000853.1 P14060 3BHS1_HUMAN hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 136 androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1) 32 all_neural(166;0.219) all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624) Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554) NADH(DB00157)|Trilostane(DB01108) CTCCTACAAGGAAATCATCCA 0.537000 189 75 0 0 1 0 0 NID2 22795 broad.mit.edu 37 14 52493941 52493941 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr14:52493941G>A ENST00000216286.5 - 12 2651 c.2652C>T c.(2650-2652)gcC>gcT p.A884A NID2_ENST00000541773.1_Intron NM_007361.3 NP_031387.3 Q14112 NID2_HUMAN nidogen 2 (osteonidogen) 884 EGF-like 4. basement membrane calcium ion binding|collagen binding p.A884A(1) NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 87 Breast(41;0.0639)|all_epithelial(31;0.123) GCCCATCGCCGGCATAACCAG 0.587000 9 1 0 0 1 0 0 SLCO1B7 338821 broad.mit.edu 37 12 21172275 21172275 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:21172275G>A ENST00000421593.2 + 2 179 c.179G>A c.(178-180)gGa>gAa p.G60E SLCO1B3_ENST00000553473.1_Intron|LST3_ENST00000540229.1_Intron|LST3_ENST00000381541.3_Intron|SLCO1B7_ENST00000554957.1_Intron NM_001009562.4 NP_001009562.3 solute carrier organic anion transporter family, member 1B7 (non-functional) endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 46 ATGGGAACTGGAAGTATTTTG 0.333000 15 15 0 0 1 0 0 RAB11FIP1 80223 broad.mit.edu 37 8 37732413 37732413 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:37732413G>A ENST00000330843.4 - 3 1254 c.1242C>T c.(1240-1242)ccC>ccT p.P414P RAB11FIP1_ENST00000524118.1_Silent_p.P266P|RAB11FIP1_ENST00000287263.4_Silent_p.P414P|RAB11FIP1_ENST00000522727.1_Silent_p.P266P NM_001002814.2 NP_001002814.2 Q6WKZ4 RFIP1_HUMAN RAB11 family interacting protein 1 (class I) 414 protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 49 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) CTGAGTTTGCGGGGGCCATGT 0.557000 37 53 0 0 1 0 0 THBS3 7059 broad.mit.edu 37 1 155173095 155173095 + Splice_Site SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:155173095C>T ENST00000368378.3 - 6 695 c.673_splice c.e6-1 p.G225_splice THBS3_ENST00000541990.1_5'UTR|THBS3_ENST00000428962.2_Intron|THBS3_ENST00000457183.2_Splice_Site_p.G105_splice|RP11-263K19.4_ENST00000422665.1_RNA|RP11-263K19.4_ENST00000430312.1_RNA|RP11-263K19.4_ENST00000453136.1_RNA|THBS3_ENST00000487250.1_5'UTR NM_001252607.1|NM_007112.4 NP_001239536.1|NP_009043.1 P49746 TSP3_HUMAN thrombospondin 3 225 cell-matrix adhesion extracellular region|perinuclear region of cytoplasm calcium ion binding|heparin binding|structural molecule activity breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3) 48 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) TGGTCTGCTCCCCTGTCGGGA 0.627000 36 5 0 0 1 0 0 COL18A1 80781 broad.mit.edu 37 21 46916415 46916415 + Splice_Site SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr21:46916415G>A ENST00000359759.4 + 29 3776 c.3753_splice c.e29-1 p.G1252_splice COL18A1_ENST00000400337.2_Splice_Site_p.G837_splice|COL18A1_ENST00000355480.5_Splice_Site_p.G1017_splice|COL18A1_ENST00000459895.1_3'UTR P39060 COIA1_HUMAN collagen, type XVIII, alpha 1 1252 Triple-helical region 6 (COL6). cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) TCCCCACAGGGAATGCCCGGC 0.597000 41 64 0 0 1 0 0 SPERT 220082 broad.mit.edu 37 13 46287917 46287917 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr13:46287917G>A ENST00000378966.3 + 2 1065 c.649G>A c.(649-651)Gag>Aag p.E217K SPERT_ENST00000310521.1_Missense_Mutation_p.E253K Q8NA61 SPERT_HUMAN spermatid associated 253 cytoplasmic membrane-bounded vesicle NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 15 Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;7.26e-05) CCTCCGGGAGGAGAATCGCGC 0.682000 8 17 0 0 1 0 0 STARD3 10948 broad.mit.edu 37 17 37817337 37817337 + Splice_Site SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr17:37817337C>T ENST00000336308.5 + 13 1356 c.1139_splice c.e13+1 p.R380_splice STARD3_ENST00000544210.2_Splice_Site_p.R380_splice|STARD3_ENST00000580611.1_Splice_Site_p.R354_splice|STARD3_ENST00000394250.4_Splice_Site_p.R362_splice NM_001165937.1|NM_006804.3 NP_001159409.1|NP_006795.3 Q14849 STAR3_HUMAN StAR-related lipid transfer (START) domain containing 3 380 START. cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process integral to membrane|late endosome membrane cholesterol binding|cholesterol transporter activity endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1) 14 Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) CAAATATGTCCGGTGAGCCTC 0.617000 20 25 0 0 1 0 0 GJA10 84694 broad.mit.edu 37 6 90604405 90604405 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:90604405C>T ENST00000369352.1 + 1 218 c.218C>T c.(217-219)tCt>tTt p.S73F NM_032602.1 NP_115991.1 Q969M2 CXA10_HUMAN gap junction protein, alpha 10, 62kDa 73 synaptic transmission connexon complex|integral to membrane gap junction channel activity breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1) 37 all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527) BRCA - Breast invasive adenocarcinoma(108;0.0915) TTCCCTATCTCTTTGATCAGG 0.463000 10 28 0 0 1 0 0 NPC1L1 29881 broad.mit.edu 37 7 44576027 44576027 + Splice_Site SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:44576027C>T ENST00000289547.4 - 4 1737 c.1681_splice c.e4-1 p.G561_splice NPC1L1_ENST00000546276.1_Splice_Site_p.G561_splice|NPC1L1_ENST00000423141.1_Splice_Site_p.G561_splice|NPC1L1_ENST00000381160.3_Splice_Site_p.G561_splice NM_013389.2 NP_037521.2 Q9UHC9 NPCL1_HUMAN NPC1-like 1 561 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) ATAGTCCTTTCCTGGGATAAG 0.602000 18 81 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51612713 51612713 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:51612713G>A ENST00000371117.3 - 58 9976 c.9701C>T c.(9700-9702)tCc>tTc p.S3234F PKHD1_ENST00000340994.4_Missense_Mutation_p.S3234F NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 3234 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) TCTTGGATTGGAGGGAGCTCT 0.483000 16 100 0 0 1 0 0 OR2A25 392138 broad.mit.edu 37 7 143771320 143771320 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:143771320G>A ENST00000408898.2 + 1 46 c.8G>A c.(7-9)gGa>gAa p.G3E NM_001004488.1 NP_001004488.1 A4D2G3 O2A25_HUMAN olfactory receptor, family 2, subfamily A, member 25 3 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Melanoma(164;0.0783) GAAATGGGGGGAAATCAGACT 0.448000 33 45 0 0 1 0 0 SGMS1 259230 broad.mit.edu 37 10 52103734 52103734 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr10:52103734G>A ENST00000361781.2 - 7 1100 c.141C>T c.(139-141)ccC>ccT p.P47P SGMS1_ENST00000429490.1_Intron|SGMS1_ENST00000361543.2_Silent_p.P47P NM_147156.3 NP_671512.1 Q86VZ5 SMS1_HUMAN sphingomyelin synthase 1 53 SAM. apoptosis|cell growth|sphingomyelin biosynthetic process endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 16 GGCACAAGGGGGGTTTTTTGA 0.512000 26 6 0 0 1 0 0 LMTK3 114783 broad.mit.edu 37 19 49012224 49012224 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:49012224C>T ENST00000600059.1 - 5 668 c.441G>A c.(439-441)gtG>gtA p.V147V LMTK3_ENST00000270238.3_Silent_p.V176V lemur tyrosine kinase 3 breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1) 16 all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231) CTCCCAGGATCACCTGGTCAA 0.667000 19 40 0 0 1 0 0 FOXD4L1 200350 broad.mit.edu 37 2 114257523 114257523 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:114257523C>T ENST00000306507.5 + 1 863 c.690C>T c.(688-690)ccC>ccT p.P230P NM_012184.4 NP_036316.1 Q9NU39 FX4L1_HUMAN forkhead box D4-like 1 230 Pro-rich. axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2) 26 TGCACAACCCCCGCCCAGGCC 0.721000 69 93 0 0 1 0 0 R3HCC1L 27291 broad.mit.edu 37 10 99968038 99968038 + Missense_Mutation SNP T T A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr10:99968038T>A ENST00000298999.3 + 5 470 c.167T>A c.(166-168)cTc>cAc p.L56H R3HCC1L_ENST00000314594.5_5'UTR|R3HCC1L_ENST00000370584.3_Missense_Mutation_p.L56H|R3HCC1L_ENST00000370586.2_Intron NM_014472.4 NP_055287.4 R3H domain and coiled-coil containing 1-like GAAAGTTCTCTCTCCCAAAAA 0.393000 36 19 0 0 1 0 0 DEAF1 10522 broad.mit.edu 37 11 687964 687964 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:687964G>A ENST00000382409.3 - 4 1095 c.611C>T c.(610-612)cCc>cTc p.P204L DEAF1_ENST00000338675.6_Missense_Mutation_p.P204L NM_021008.2 NP_066288.2 O75398 DEAF1_HUMAN DEAF1 transcription factor 204 SAND. embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|extracellular region|nucleus protein binding|zinc ion binding breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 24 all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075) GCACCGTACGGGCAGCTCACT 0.552000 21 24 0 0 1 0 0 TXNDC11 51061 broad.mit.edu 37 16 11785402 11785402 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr16:11785402G>A ENST00000356957.3 - 9 1832 c.1725C>T c.(1723-1725)tcC>tcT p.S575S TXNDC11_ENST00000283033.5_Silent_p.S548S Q6PKC3 TXD11_HUMAN thioredoxin domain containing 11 575 cell redox homeostasis endoplasmic reticulum membrane|integral to membrane endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 TGTGAGGAACGGAGCTTGGGG 0.478000 53 69 0 0 1 0 0 COL24A1 255631 broad.mit.edu 37 1 86591737 86591737 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:86591737G>A ENST00000370571.2 - 3 648 c.282C>T c.(280-282)ttC>ttT p.F94F COL24A1_ENST00000436319.1_Silent_p.F94F NM_152890.5 NP_690850.2 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 94 TSP N-terminal. cell adhesion collagen extracellular matrix structural constituent NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 101 all cancers(265;0.0627)|Epithelial(280;0.0689) AAATTTTCACGAAAGGTGTCT 0.408000 8 63 0 0 1 0 0 OTOF 9381 broad.mit.edu 37 2 26781365 26781365 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:26781365G>A ENST00000272371.2 - 1 201 c.75C>T c.(73-75)ttC>ttT p.F25F OTOF_ENST00000403946.3_Silent_p.F25F NM_194248.2 NP_919224.1 Q9HC10 OTOF_HUMAN otoferlin 25 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) CCCTACCTCGGAAAGTCACTT 0.652000 46 44 0 0 1 0 0 ANKRD33 341405 broad.mit.edu 37 12 52282027 52282027 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:52282027G>A ENST00000301190.6 + 1 284 c.57G>A c.(55-57)ctG>ctA p.L19L ANKRD33_ENST00000538991.1_5'UTR|ANKRD33_ENST00000340970.4_5'UTR NM_001130015.1|NM_182608.3 NP_001123487.1|NP_872414.3 Q7Z3H0 ANR33_HUMAN ankyrin repeat domain 33 0 endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 22 BRCA - Breast invasive adenocarcinoma(357;0.0969) TAGTCCACCTGGAGGCATTCG 0.567000 55 54 0 0 1 0 0 DRD5 1816 broad.mit.edu 37 4 9784199 9784199 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr4:9784199G>A ENST00000304374.2 + 1 942 c.546G>A c.(544-546)agG>agA p.R182R NM_000798.4 NP_000789.1 P21918 DRD5_HUMAN dopamine receptor D5 182 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1) 57 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) ACTGGCACAGGGACCAGGCGG 0.617000 15 63 0 0 1 0 0 BCL6B 255877 broad.mit.edu 37 17 6930341 6930341 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr17:6930341C>T ENST00000293805.5 + 8 1350 c.1258C>T c.(1258-1260)Cgc>Tgc p.R420C NM_181844.3 NP_862827.1 Q8N143 BCL6B_HUMAN B-cell CLL/lymphoma 6, member B 420 nucleus zinc ion binding skin(1) 1 CTGCGGAACCCGCTTCCGCCA 0.637000 37 17 0 0 1 0 0 DSC3 1825 broad.mit.edu 37 18 28577002 28577002 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr18:28577002C>T ENST00000434452.1 - 15 2402 c.2248G>A c.(2248-2250)Gga>Aga p.G750R DSC3_ENST00000360428.4_Missense_Mutation_p.G750R NM_024423.2 NP_077741.2 Q14574 DSC3_HUMAN desmocollin 3 750 homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 OV - Ovarian serous cystadenocarcinoma(10;0.125) GTCATAAATCCATTGGCAGAG 0.368000 11 50 0 0 1 0 0 ALG9 79796 broad.mit.edu 37 11 111749855 111749855 + Translation_Start_Site SNP A A T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:111749855A>T ENST00000524880.1 - 1 294 c.2T>A c.(1-3)aTg>aAg p.M1K C11orf1_ENST00000528125.1_Intron|FDXACB1_ENST00000260257.4_Start_Codon_SNP_p.M1K 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) CCGAGGGGCCATGGCCTCCAC 0.622000 OREG0021330 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 34 0 0 1 0 0 PIP5K1B 8395 broad.mit.edu 37 9 71509462 71509462 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr9:71509462G>A ENST00000265382.3 + 8 984 c.679G>A c.(679-681)Gac>Aac p.D227N PIP5K1B_ENST00000541509.1_Missense_Mutation_p.D227N NM_003558.2 NP_003549.1 O14986 PI51B_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type I, beta 227 PIPK. endomembrane system|membrane|uropod 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding breast(1)|large_intestine(2)|stomach(1) 4 Lung(182;0.133) CACATTTAAGGACTTAGATTT 0.433000 38 13 0 0 1 0 0 CPN1 1369 broad.mit.edu 37 10 101835839 101835839 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr10:101835839C>T ENST00000370418.3 - 2 500 c.249G>A c.(247-249)ggG>ggA p.G83G NM_001308.2 NP_001299.1 P15169 CBPN_HUMAN carboxypeptidase N, polypeptide 1 83 Catalytic. proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 33 Colorectal(252;0.234) Epithelial(162;4.77e-10)|all cancers(201;3.82e-08) CGTGCATGTTCCCCACATACT 0.542000 29 21 0 0 1 0 0 LPHN2 23266 broad.mit.edu 37 1 82434966 82434966 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:82434966C>T ENST00000370728.1 + 17 3261 c.2616C>T c.(2614-2616)ttC>ttT p.F872F LPHN2_ENST00000359929.3_Silent_p.F859F|LPHN2_ENST00000271029.4_Silent_p.F872F|LPHN2_ENST00000370725.1_Silent_p.F872F|LPHN2_ENST00000370727.1_Silent_p.F872F|LPHN2_ENST00000319517.6_Silent_p.F859F|LPHN2_ENST00000394879.1_Silent_p.F859F|LPHN2_ENST00000370723.1_Silent_p.F859F|LPHN2_ENST00000370721.1_Silent_p.F797F|LPHN2_ENST00000370713.1_Silent_p.F859F|LPHN2_ENST00000335786.5_Silent_p.F872F|LPHN2_ENST00000370717.2_Silent_p.F872F|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370715.1_Silent_p.F859F|LPHN2_ENST00000370730.1_Silent_p.F872F O95490 LPHN2_HUMAN latrophilin 2 872 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) TCTGCTTTTTCCGTGGCCTAC 0.393000 77 39 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179665129 179665129 + Silent SNP C C T rs150591951 TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:179665129C>T ENST00000589042.1 - 4 800 c.576G>A c.(574-576)ctG>ctA p.L192L TTN_ENST00000342992.6_Silent_p.L192L|TTN_ENST00000591111.1_Silent_p.L192L|TTN_ENST00000360870.5_Silent_p.L192L|TTN_ENST00000460472.2_Silent_p.L192L|TTN_ENST00000342175.6_Silent_p.L192L|TTN_ENST00000359218.5_Silent_p.L192L NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 192 Ig-like 2. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.L192L(3) 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) TACCTTGAACCAGTAATTCAG 0.512000 72 88 0 0 1 0 0 UBE2R2 54926 broad.mit.edu 37 9 33886894 33886894 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr9:33886894C>T ENST00000263228.3 + 2 384 c.193C>T c.(193-195)Cct>Tct p.P65S NM_017811.3 NP_060281.2 Q712K3 UB2R2_HUMAN ubiquitin-conjugating enzyme E2R 2 65 protein K48-linked ubiquitination|protein monoubiquitination ATP binding|ubiquitin-protein ligase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(3) 8 LUSC - Lung squamous cell carcinoma(29;0.0176) GBM - Glioblastoma multiforme(74;0.188) TATTAAATTTCCTATTGACTA 0.363000 13 7 0 0 1 0 0 ANGPTL1 9068 broad.mit.edu 37 1 178834189 178834189 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:178834189C>T ENST00000234816.2 - 3 1170 c.723G>A c.(721-723)agG>agA p.R241R RALGPS2_ENST00000367634.2_Intron|RALGPS2_ENST00000367635.3_Intron|RALGPS2_ENST00000324778.4_Intron|ANGPTL1_ENST00000367629.1_Silent_p.R241R NM_004673.3 NP_004664.1 O95841 ANGL1_HUMAN angiopoietin-like 1 241 extracellular space receptor binding breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1) 14 AACCTGGATCCCTCTGAATCT 0.493000 15 77 0 0 1 0 0 CCND2 894 broad.mit.edu 37 12 4409122 4409122 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:4409122G>A ENST00000261254.3 + 5 1086 c.817G>A c.(817-819)Gat>Aat p.D273N NM_001759.3 NP_001750.1 P30279 CCND2_HUMAN cyclin D2 273 cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus protein kinase binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 17 all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206) CAAGTCGGAGGATGAACTGGA 0.562000 T IGL@ """NHL,CLL""" 4 26 0 0 1 0 0 HTR2C 3358 broad.mit.edu 37 X 114141163 114141163 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chrX:114141163C>T ENST00000276198.1 + 6 1290 c.562C>T c.(562-564)Cct>Tct p.P188S HTR2C_ENST00000371950.3_Missense_Mutation_p.S156F|HTR2C_ENST00000371951.1_Missense_Mutation_p.P188S NM_000868.2 NP_000859.1 P28335 5HT2C_HUMAN 5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled 188 cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission cytoplasm|integral to membrane|nucleus|plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246) TGTATCAGTTCCTATCCCTGT 0.433000 31 14 0 0 1 0 0 TNNT3 7140 broad.mit.edu 37 11 1956113 1956113 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:1956113C>T ENST00000381558.1 + 13 900 c.621C>T c.(619-621)ttC>ttT p.F207F TNNT3_ENST00000381549.3_Silent_p.F207F|TNNT3_ENST00000397301.1_Silent_p.F226F|TNNT3_ENST00000381589.3_Silent_p.F213F|TNNT3_ENST00000397304.2_Silent_p.F196F|TNNT3_ENST00000381579.3_Silent_p.F207F|TNNT3_ENST00000381561.4_Silent_p.F218F|TNNT3_ENST00000360603.3_Silent_p.F209F|TNNT3_ENST00000381548.3_Silent_p.F217F|TNNT3_ENST00000278317.6_Silent_p.F215F|TNNT3_ENST00000493234.1_3'UTR|TNNT3_ENST00000446240.1_Silent_p.F196F P45378 TNNT3_HUMAN troponin T type 3 (skeletal, fast) 226 muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction cytosol|troponin complex calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1) 19 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826) TTGACAAGTTCGAGTTTGGGG 0.597000 99 138 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32011620 32011620 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:32011620G>A ENST00000375244.3 - 35 11637 c.11436C>T c.(11434-11436)ctC>ctT p.L3812L TNXB_ENST00000375247.2_Silent_p.L3810L|TNXB_ENST00000451343.1_Silent_p.L241L P22105 TENX_HUMAN tenascin XB 3857 Fibronectin type-III 30. 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 TCAGCCCCTGGAGTTTCTGGG 0.627000 61 135 0 0 1 0 0 TNN 63923 broad.mit.edu 37 1 175048480 175048480 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:175048480C>T ENST00000239462.4 + 3 534 c.421C>T c.(421-423)Cac>Tac p.H141Y NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 141 cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) TCTAAGCCGCCACTGCAGCGG 0.652000 5 20 0 0 1 0 0 LOC645752 645752 broad.mit.edu 37 15 78213778 78213778 + RNA SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr15:78213778G>A ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA CAGATCCTTGGACTCTTCTGT 0.547000 12 50 0 0 1 0 0 RELA 5970 broad.mit.edu 37 11 65425951 65425951 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:65425951G>A ENST00000525693.1 - 8 746 c.684C>T c.(682-684)ttC>ttT p.F228F RELA_ENST00000308639.9_Silent_p.F225F|RELA_ENST00000406246.3_Silent_p.F228F Q04206 TF65_HUMAN v-rel avian reticuloendotheliosis viral oncogene homolog A 228 RHD. anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|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 cytosol|transcription factor complex activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1) 19 CTGGTCCCGTGAAATACACCT 0.587000 23 34 0 0 1 0 0 BAZ2A 11176 broad.mit.edu 37 12 57009025 57009025 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:57009025G>A ENST00000179765.5 - 3 702 c.503C>T c.(502-504)tCc>tTc p.S168F BAZ2A_ENST00000551812.1_Missense_Mutation_p.S170F|BAZ2A_ENST00000549884.1_Missense_Mutation_p.S168F|BAZ2A_ENST00000379441.3_Missense_Mutation_p.S170F Q9UIF9 BAZ2A_HUMAN bromodomain adjacent to zinc finger domain, 2A 170 chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1) 31 GTCAGGAAAGGAATCATACAG 0.478000 5 24 0 0 1 0 0 ZNF239 8187 broad.mit.edu 37 10 44052591 44052591 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr10:44052591G>A ENST00000306006.6 - 2 1589 c.937C>T c.(937-939)Cac>Tac p.H313Y ZNF239_ENST00000374446.2_Missense_Mutation_p.H313Y|ZNF239_ENST00000426961.1_Missense_Mutation_p.H313Y|ZNF239_ENST00000535642.1_Missense_Mutation_p.H313Y NM_005674.2 NP_005665.2 Q16600 ZN239_HUMAN zinc finger protein 239 313 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|RNA binding|zinc ion binding endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 TCTCCAGTGTGGACTCGCTGG 0.522000 30 22 0 0 1 0 0 CEP63 80254 broad.mit.edu 37 3 134278111 134278111 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:134278111C>T ENST00000337090.3 + 14 1966 c.1793C>T c.(1792-1794)cCc>cTc p.P598L CEP63_ENST00000383229.3_Intron|CEP63_ENST00000354446.3_Intron|CEP63_ENST00000332047.5_Intron|CEP63_ENST00000606977.1_Missense_Mutation_p.P598L|CEP63_ENST00000513612.2_Missense_Mutation_p.P598L Q96MT8 CEP63_HUMAN centrosomal protein 63kDa 598 cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly centrosome|cytosol|spindle pole protein binding kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 GTGCTAAGCCCCCTGAGTCCT 0.448000 68 93 0 0 1 0 0 CADM4 199731 broad.mit.edu 37 19 44130381 44130381 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:44130381G>A ENST00000222374.2 - 5 607 c.559C>T c.(559-561)Cgt>Tgt p.R187C NM_145296.1 NP_660339.1 Q8NFZ8 CADM4_HUMAN cell adhesion molecule 4 187 Ig-like C2-type 1. cell adhesion integral to membrane endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2) 12 Prostate(69;0.0199) CGGTCCACACGAAACCGTACT 0.597000 14 17 0 0 1 0 0 MUC3A 4584 broad.mit.edu 37 7 100549815 100549815 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:100549815G>A ENST00000379458.4 + 2 396 c.396G>A c.(394-396)acG>acA p.132_132insT MUC3A_ENST00000483366.1_3'UTR mucin 3A, cell surface associated breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 TGTATCCAACGAGCTTTATAA 0.552000 13 89 0 0 1 0 0 COL4A1 1282 broad.mit.edu 37 13 110835395 110835395 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr13:110835395C>T ENST00000375820.4 - 28 2161 c.2040G>A c.(2038-2040)gaG>gaA p.E680E NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 680 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) CAGCGCCCTTCTCTCCTGGCA 0.612000 23 12 0 0 1 0 0 CDH18 1016 broad.mit.edu 37 5 19721525 19721525 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:19721525C>T ENST00000507958.1 - 7 1564 c.574G>A c.(574-576)Gga>Aga p.G192R CDH18_ENST00000502796.1_Missense_Mutation_p.G192R|CDH18_ENST00000382275.1_Missense_Mutation_p.G192R|CDH18_ENST00000511273.1_Missense_Mutation_p.G192R|CDH18_ENST00000506372.1_Missense_Mutation_p.G192R|CDH18_ENST00000274170.4_Missense_Mutation_p.G192R Q13634 CAD18_HUMAN cadherin 18, type 2 192 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) GCGCTGTTTCCATAGGTAGGG 0.453000 19 18 0 0 1 0 0 MYO7B 4648 broad.mit.edu 37 2 128341776 128341776 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:128341776G>A ENST00000389524.4 + 13 1476 c.1423G>A c.(1423-1425)Gag>Aag p.E475K MYO7B_ENST00000409816.2_Missense_Mutation_p.E475K|MYO7B_ENST00000428314.1_Missense_Mutation_p.E475K Q6PIF6 MYO7B_HUMAN myosin VIIB 475 Myosin head-like. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 75 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) CATGGAGCAAGAGGAGTACCG 0.572000 16 35 0 0 1 0 0 INTS5 80789 broad.mit.edu 37 11 62416553 62416553 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:62416553G>A ENST00000330574.2 - 2 1051 c.999C>T c.(997-999)tcC>tcT p.S333S NM_030628.1 NP_085131.1 Q6P9B9 INT5_HUMAN integrator complex subunit 5 333 snRNA processing integral to membrane|integrator complex protein binding breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 36 TGGCCTGAAGGGAGGGGTCCC 0.627000 32 134 0 0 1 0 0 LRRC7 57554 broad.mit.edu 37 1 70504260 70504260 + Missense_Mutation SNP A A T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:70504260A>T ENST00000310961.5 + 22 3072 c.2654A>T c.(2653-2655)gAa>gTa p.E885V LRRC7_ENST00000035383.5_Missense_Mutation_p.E880V|LRRC7_ENST00000415775.2_Missense_Mutation_p.E164V Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 880 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 CATATAAAGGAATCTACTGAA 0.438000 16 114 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3240559 3240559 + Missense_Mutation SNP A A T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chrX:3240559A>T ENST00000217939.6 - 5 3321 c.3167T>A c.(3166-3168)aTt>aAt p.I1056N NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 1056 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) ACCCTTTTTAATCAGTAAGGT 0.473000 45 6 0 0 1 0 0 OR51L1 119682 broad.mit.edu 37 11 5020744 5020744 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:5020744C>T ENST00000321543.1 + 1 532 c.532C>T c.(532-534)Cac>Tac p.H178Y NM_001004755.1 NP_001004755.1 Q8NGJ5 O51L1_HUMAN olfactory receptor, family 51, subfamily L, member 1 178 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1) 31 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) TGCCCTCTCTCACGCCTTCTG 0.468000 46 76 0 0 1 0 0 ITGB5 3693 broad.mit.edu 37 3 124567295 124567295 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:124567295G>A ENST00000296181.4 - 4 768 c.472C>T c.(472-474)Cgg>Tgg p.R158W ITGB5_ENST00000488466.1_5'UTR NM_002213.3 NP_002204.2 P18084 ITB5_HUMAN integrin, beta 5 158 VWFA. cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction integrin complex receptor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 30 GBM - Glioblastoma multiforme(114;0.163) CCCAGGCTCCGGATATTGTCC 0.532000 59 54 0 0 1 0 0 MYBPC1 4604 broad.mit.edu 37 12 102043044 102043044 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:102043044G>A ENST00000549145.1 + 14 1267 c.1167G>A c.(1165-1167)aaG>aaA p.K389K MYBPC1_ENST00000547405.1_Silent_p.K350K|MYBPC1_ENST00000553190.1_Silent_p.K376K|MYBPC1_ENST00000547509.1_Silent_p.K362K|MYBPC1_ENST00000551300.1_Silent_p.K277K|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000361466.2_Silent_p.K401K|MYBPC1_ENST00000392934.3_Silent_p.K363K|MYBPC1_ENST00000550270.1_Silent_p.K376K|RP11-755O11.2_ENST00000552081.1_RNA|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000536007.1_Silent_p.K357K|MYBPC1_ENST00000441232.1_Silent_p.K376K|MYBPC1_ENST00000360610.2_Silent_p.K376K|MYBPC1_ENST00000541119.1_Silent_p.K364K|MYBPC1_ENST00000545503.2_Silent_p.K376K|MYBPC1_ENST00000452455.2_Silent_p.K376K|MYBPC1_ENST00000361685.2_Silent_p.K401K Q00872 MYPC1_HUMAN myosin binding protein C, slow type 376 Ig-like C2-type 3. cell adhesion|muscle filament sliding cytosol|myofibril|myosin filament actin binding|structural constituent of muscle|titin binding p.K376N(1)|p.K401N(1) breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 57 TCAGGTTTAAGAATGGTGAAG 0.343000 5 26 0 0 1 0 0 TRBV4-2 28616 broad.mit.edu 37 7 142045592 142045592 + RNA SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:142045592G>A ENST00000390392.3 + 0 231 AGAAGTCTTTGAAATGTGAAC 0.453000 44 146 0 0 1 0 0 INPP5D 3635 broad.mit.edu 37 2 233995348 233995348 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:233995348G>A ENST00000359570.5 + 5 655 c.655G>A c.(655-657)Gag>Aag p.E219K INPP5D_ENST00000538935.1_Missense_Mutation_p.E219K|INPP5D_ENST00000474278.1_3'UTR Q92835 SHIP1_HUMAN inositol polyphosphate-5-phosphatase, 145kDa 219 apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding central_nervous_system(1)|ovary(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) GCTCTGCAAGGAGCTCTATGG 0.577000 15 18 0 0 1 0 0 GABARAPL3 23766 broad.mit.edu 37 15 90892258 90892258 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr15:90892258C>T ENST00000412799.2 - 1 411 c.172G>A c.(172-174)Ggc>Agc p.G58S TAGAACTGGCCATCGGTAAGG 0.507000 12 10 0 0 1 0 0 SBSPON 157869 broad.mit.edu 37 8 73993428 73993428 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:73993428C>T ENST00000297354.6 - 2 439 c.235G>A c.(235-237)Gaa>Aaa p.E79K SBSPON_ENST00000519697.1_5'UTR NM_153225.3 NP_694957.3 Q8IVN8 RPESP_HUMAN somatomedin B and thrombospondin, type 1 domain containing 79 TSP type-1. immune response extracellular region polysaccharide binding|scavenger receptor activity GGGCTCCATTCCCCCACGAAG 0.632000 34 52 0 0 1 0 0 TSHZ2 128553 broad.mit.edu 37 20 51870558 51870558 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr20:51870558G>A ENST00000371497.5 + 2 1448 c.561G>A c.(559-561)tcG>tcA p.S187S TSHZ2_ENST00000603338.2_Silent_p.S184S|TSHZ2_ENST00000329613.6_Silent_p.S184S NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 187 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) GGTCCGTCTCGAAACCCAGCC 0.557000 24 46 0 0 1 0 0 ANO3 63982 broad.mit.edu 37 11 26484631 26484631 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:26484631G>A ENST00000256737.3 + 4 1220 c.368G>A c.(367-369)cGa>cAa p.R123Q ANO3_ENST00000531646.1_Missense_Mutation_p.R123Q|ANO3_ENST00000537978.1_Missense_Mutation_p.R107Q|ANO3_ENST00000525139.1_Missense_Mutation_p.R107Q NM_031418.2 NP_113606.2 Q9BYT9 ANO3_HUMAN anoctamin 3 123 chloride channel complex chloride channel activity breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 ACTTATGACCGATCTCGTCTC 0.299000 8 19 0 0 1 0 0 NUTM1 256646 broad.mit.edu 37 15 34646853 34646853 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr15:34646853G>A ENST00000537011.1 + 6 1664 c.1282G>A c.(1282-1284)Gag>Aag p.E428K NUTM1_ENST00000333756.4_Missense_Mutation_p.E400K|NUTM1_ENST00000438749.3_Missense_Mutation_p.E418K NUT midline carcinoma, family member 1 GCAGCAGCAGGAGGAGGAAGG 0.527000 51 62 0 0 1 0 0 OR51E2 81285 broad.mit.edu 37 11 4703095 4703095 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:4703095G>A ENST00000396950.3 - 2 1086 c.847C>T c.(847-849)Cct>Tct p.P283S NM_030774.3 NP_110401.1 Q9H255 O51E2_HUMAN olfactory receptor, family 51, subfamily E, member 2 283 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3) 23 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2) ATGACAGGAGGCAGCAGCAGG 0.502000 18 40 0 0 1 0 0 ZDHHC3 51304 broad.mit.edu 37 3 45000782 45000782 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:45000782G>A ENST00000296127.3 - 2 420 c.147C>T c.(145-147)atC>atT p.I49I ZDHHC3_ENST00000424952.2_Silent_p.I49I|ZDHHC3_ENST00000342790.4_Silent_p.I49I NM_016598.2 NP_057682.1 Q9NYG2 ZDHC3_HUMAN zinc finger, DHHC-type containing 3 49 Golgi membrane|integral to membrane zinc ion binding endometrium(1)|large_intestine(3)|lung(4) 8 BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665) ACCAGGTAACGATGGCACAGG 0.532000 57 81 0 0 1 0 0 HECTD4 283450 broad.mit.edu 37 12 112650372 112650372 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:112650372G>A ENST00000550722.1 - 49 7505 c.7110C>T c.(7108-7110)ttC>ttT p.F2370F HECTD4_ENST00000430131.2_Silent_p.F2094F|HECTD4_ENST00000377560.5_Silent_p.F2344F NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 CGCAGTATGTGAAGTACACCC 0.567000 22 58 0 0 1 0 0 OR5H1 26341 broad.mit.edu 37 3 97851871 97851871 + Silent SNP G G A rs113686881 TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:97851871G>A ENST00000354565.2 + 1 330 c.330G>A c.(328-330)acG>acA p.T110T RP11-343D2.11_ENST00000508964.1_RNA NM_001005338.1 NP_001005338.1 A6NKK0 OR5H1_HUMAN olfactory receptor, family 5, subfamily H, member 1 110 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1) 34 GTGTAACCACGGAATGTTTTC 0.408000 54 95 0 0 1 0 0 KHDC3L 154288 broad.mit.edu 37 6 74073511 74073511 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:74073511C>T ENST00000370367.3 + 3 635 c.582C>T c.(580-582)tcC>tcT p.S194S NM_001017361.2 NP_001017361.1 KH domain containing 3-like, subcortical maternal complex member CCCAGCGATCCCCCGAAGCTG 0.642000 9 53 0 0 1 0 0 SOHLH2 54937 broad.mit.edu 37 13 36767801 36767801 + Missense_Mutation SNP C C A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr13:36767801C>A ENST00000379881.3 - 4 475 c.387G>T c.(385-387)atG>atT p.M129I CCDC169-SOHLH2_ENST00000511166.1_Missense_Mutation_p.M206I|SOHLH2_ENST00000317764.6_Missense_Mutation_p.M129I|SOHLH2_ENST00000554962.1_Missense_Mutation_p.M206I NM_017826.2 NP_060296.2 spermatogenesis and oogenesis specific basic helix-loop-helix 2 autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273) CCACATTACTCATTTTTTCCA 0.308000 19 53 3.8784e-16 3.92304e-16 1 1 0 EMB 133418 broad.mit.edu 37 5 49707048 49707048 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:49707048G>A ENST00000303221.5 - 3 581 c.366C>T c.(364-366)acC>acT p.T122T EMB_ENST00000508934.1_Silent_p.T68T|EMB_ENST00000514111.1_Silent_p.T72T|EMB_ENST00000506190.1_5'UTR NM_198449.2 NP_940851.1 Q6PCB8 EMB_HUMAN embigin 122 Ig-like V-type 1. integral to membrane breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2) 15 Lung SC(58;0.218) Lung NSC(810;0.0795) GGGTATACAAGGTGCTTCCTG 0.363000 26 30 0 0 1 0 0 ARHGAP44 9912 broad.mit.edu 37 17 12888210 12888210 + Missense_Mutation SNP G G A rs77850388 TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr17:12888210G>A ENST00000379672.5 + 20 2602 c.2302G>A c.(2302-2304)Gaa>Aaa p.E768K ARHGAP44_ENST00000340825.3_Missense_Mutation_p.E762K|ARHGAP44_ENST00000262444.9_Missense_Mutation_p.E768K NM_014859.4 NP_055674.4 Q17R89 RHG44_HUMAN Rho GTPase activating protein 44 768 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1) 31 GTCCCCTGGGGAAAGCATGTC 0.542000 21 13 0 0 1 0 0 ANKEF1 63926 broad.mit.edu 37 20 10036272 10036272 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr20:10036272G>A ENST00000378380.3 + 10 2624 c.2295G>A c.(2293-2295)gaG>gaA p.E765E SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000378392.1_Silent_p.E765E|ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000603542.1_RNA NM_198798.1 NP_942093.1 ankyrin repeat and EF-hand domain containing 1 ACATCACAGAGAAAGCTCGAG 0.468000 17 37 0 0 1 0 0 FAT2 2196 broad.mit.edu 37 5 150946444 150946444 + Silent SNP G G A rs142348925 byFrequency TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:150946444G>A ENST00000261800.5 - 1 2061 c.2049C>T c.(2047-2049)atC>atT p.I683I NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 683 epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TAAAGTGGAGGATAGTCTTTG 0.408000 23 38 0 0 1 0 0 PDCD11 22984 broad.mit.edu 37 10 105177554 105177554 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr10:105177554G>A ENST00000369797.3 + 14 1870 c.1776G>A c.(1774-1776)gtG>gtA p.V592V NM_014976.1 NP_055791.1 Q14690 RRP5_HUMAN programmed cell death 11 592 S1 motif 6. mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) GCCAGGTGGTGAAGGTTGTCG 0.547000 36 24 0 0 1 0 0 PILRB 29990 broad.mit.edu 37 7 99956508 99956508 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:99956508C>T ENST00000310771.4 + 16 2756 c.260C>T c.(259-261)cCt>cTt p.P87L PILRB_ENST00000444874.1_Intron|PILRB_ENST00000444073.1_Missense_Mutation_p.P87L|PILRB_ENST00000452089.1_Missense_Mutation_p.P87L|PILRB_ENST00000448382.1_Intron Q9UKJ0 PILRB_HUMAN paired immunoglobin-like type 2 receptor beta 87 Ig-like V-type. activation of transmembrane receptor protein tyrosine kinase activity integral to plasma membrane protein binding|receptor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 13 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) ACAAGGCCGCCTTCCATTCAC 0.547000 8 118 0 0 1 0 0 ZNF354B 117608 broad.mit.edu 37 5 178310306 178310306 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:178310306C>T ENST00000322434.3 + 5 1079 c.853C>T c.(853-855)Ctt>Ttt p.L285F NM_058230.2 NP_478137.1 Q96LW1 Z354B_HUMAN zinc finger protein 354B 285 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1) 21 all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TAGTGCATCCCTTTGTAAGCA 0.388000 25 32 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179407270 179407270 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:179407270C>T ENST00000589042.1 - 349 97437 c.97213G>A c.(97213-97215)Gga>Aga p.G32405R TTN_ENST00000342992.6_Missense_Mutation_p.G29837R|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G30764R|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G23340R|TTN_ENST00000342175.6_Missense_Mutation_p.G23532R|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G23465R|TTN-AS1_ENST00000456053.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 30764 Protein kinase. 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) TTAATAGGTCCTGTTGGTGGA 0.393000 19 20 0 0 1 0 0 WDR16 146845 broad.mit.edu 37 17 9536284 9536284 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr17:9536284C>T ENST00000352665.5 + 10 1323 c.1254C>T c.(1252-1254)atC>atT p.I418I WDR16_ENST00000576714.1_3'UTR|WDR16_ENST00000299764.5_Silent_p.I428I|WDR16_ENST00000396219.3_Silent_p.I350I NM_145054.4 NP_659491.4 Q8N1V2 WDR16_HUMAN WD repeat domain 16 418 cytoplasm|intracellular membrane-bounded organelle protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 31 CTCACAGGATCGGCGTCACCG 0.507000 29 12 0 0 1 0 0 FHDC1 85462 broad.mit.edu 37 4 153897471 153897471 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr4:153897471C>T ENST00000511601.1 + 12 3216 c.3028C>T c.(3028-3030)Cct>Tct p.P1010S FHDC1_ENST00000260008.3_Missense_Mutation_p.P1010S Q9C0D6 FHDC1_HUMAN FH2 domain containing 1 1010 actin cytoskeleton organization actin binding ARFIP1/FHDC1(2) NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 43 all_hematologic(180;0.093) CTCCGAGGGCCCTGAGAGTCC 0.622000 51 45 0 0 1 0 0 RHPN1 114822 broad.mit.edu 37 8 144464756 144464756 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:144464756C>T ENST00000289013.6 + 15 2049 c.1948C>T c.(1948-1950)Ccc>Tcc p.P650S NM_052924.2 NP_443156.2 Q8TCX5 RHPN1_HUMAN rhophilin, Rho GTPase binding protein 1 675 signal transduction intracellular endometrium(1)|large_intestine(1)|lung(7) 9 all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156) TGGAGGCTGCCCCCAGCCCTG 0.692000 16 22 0 0 1 0 0 ZNF133 7692 broad.mit.edu 37 20 18296625 18296625 + Missense_Mutation SNP C C A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr20:18296625C>A ENST00000377671.3 + 7 1686 c.1127C>A c.(1126-1128)tCt>tAt p.S376Y ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000535822.1_Missense_Mutation_p.S282Y|ZNF133_ENST00000396026.3_Missense_Mutation_p.S380Y|ZNF133_ENST00000401790.1_Missense_Mutation_p.S377Y|ZNF133_ENST00000316358.4_Missense_Mutation_p.S377Y|ZNF133_ENST00000402618.2_Missense_Mutation_p.S314Y|ZNF133_ENST00000538547.1_Missense_Mutation_p.S282Y NM_001083330.1|NM_003434.4 NP_001076799.1|NP_003425.2 P52736 ZN133_HUMAN zinc finger protein 133 377 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 26 AGGACGCACTCTGGGGAGAAG 0.582000 22 39 8.10497e-08 8.15135e-08 1 1 0 MIR325 442899 broad.mit.edu 37 X 76225911 76225911 + RNA SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chrX:76225911G>A ENST00000385260.1 - 0 15 NR_029905.1 cacctactaggaaccaagcac 0.383000 37 7 0 0 1 0 0 ALG11 440138 broad.mit.edu 37 13 52598464 52598464 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr13:52598464C>T ENST00000521508.1 + 3 603 c.598C>T c.(598-600)Cct>Tct p.P200S ALG11_ENST00000519151.1_3'UTR|ALG11_ENST00000523764.1_Intron NM_001004127.2 NP_001004127.2 ALG11, alpha-1,2-mannosyltransferase endometrium(1)|large_intestine(6)|lung(4)|ovary(2) 13 Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;2.44e-08) TGTTCATTATCCTACTATCAG 0.383000 57 61 0 0 1 0 0 GIMAP1 170575 broad.mit.edu 37 7 150417903 150417903 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:150417903C>T ENST00000307194.5 + 3 951 c.811C>T c.(811-813)Ccc>Tcc p.P271S NM_130759.3 NP_570115.1 GTPase, IMAP family member 1 NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 28 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GCTGAAGTCCCCCAGGAGCTG 0.746000 7 11 0 0 1 0 0 SCN7A 6332 broad.mit.edu 37 2 167263129 167263129 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:167263129G>A ENST00000409855.1 - 25 4136 c.4010C>T c.(4009-4011)tCc>tTc p.S1337F NM_002976.3 NP_002967.2 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha subunit 1337 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1) 44 CACAAGGTAGGATCCTACTGT 0.408000 32 69 0 0 1 0 0 SPATA31A6 389730 broad.mit.edu 37 9 43627122 43627122 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr9:43627122G>A ENST00000332857.6 - 4 1593 c.1565C>T c.(1564-1566)cCt>cTt p.P522L NM_001145196.1 NP_001138668.1 SPATA31 subfamily A, member 6 CTGCGATGCAGGGCAAGCTAC 0.507000 155 247 0 0 1 0 0 TMEM98 26022 broad.mit.edu 37 17 31266526 31266526 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr17:31266526C>T ENST00000579849.1 + 7 876 c.445C>T c.(445-447)Ccg>Tcg p.P149S TMEM98_ENST00000578289.1_Intron|TMEM98_ENST00000394642.3_Missense_Mutation_p.P149S NM_015544.2 NP_056359.2 Q9Y2Y6 TMM98_HUMAN transmembrane protein 98 149 endoplasmic reticulum|integral to membrane kidney(2)|large_intestine(1) 3 Ovarian(249;0.182)|Breast(31;0.244) BRCA - Breast invasive adenocarcinoma(9;0.0769) GATGTACCCTCCGTTGGACCC 0.493000 17 31 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 34042431 34042431 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr15:34042431G>A ENST00000389232.4 + 57 8413 c.8343G>A c.(8341-8343)cgG>cgA p.R2781R RYR3_ENST00000415757.3_Silent_p.R2781R NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 2781 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TCAAGGACCGGGAGAAGGCAC 0.517000 3 7 0 0 1 0 0 CYP2C19 1557 broad.mit.edu 37 10 96522574 96522574 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr10:96522574G>A ENST00000371321.3 + 1 194 c.112G>A c.(112-114)Gtg>Atg p.V38M CYP2C19_ENST00000464755.1_Intron NM_000769.1 NP_000760.1 P33261 CP2CJ_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 19 38 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 43 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) TCCTCTCCCAGTGATTGGAAA 0.443000 5 52 0 0 1 0 0 DPY19L3 147991 broad.mit.edu 37 19 32944126 32944126 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:32944126C>T ENST00000342179.5 + 9 1146 c.931C>T c.(931-933)Ctt>Ttt p.L311F DPY19L3_ENST00000392250.2_Missense_Mutation_p.L311F|DPY19L3_ENST00000586987.1_Missense_Mutation_p.L311F NM_207325.2 NP_997208.2 Q6ZPD9 D19L3_HUMAN dpy-19-like 3 (C. elegans) 311 integral to membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1) 32 Esophageal squamous(110;0.162) TTCCATGATTCTTGGATCACT 0.338000 11 24 0 0 1 0 0 CCDC77 84318 broad.mit.edu 37 12 547701 547701 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:547701C>T ENST00000239830.4 + 10 1201 c.1022C>T c.(1021-1023)gCt>gTt p.A341V CCDC77_ENST00000540180.1_Missense_Mutation_p.A309V|CCDC77_ENST00000412006.2_Missense_Mutation_p.A309V|CCDC77_ENST00000422000.1_Missense_Mutation_p.A309V NM_032358.3 NP_115734.1 Q9BR77 CCD77_HUMAN coiled-coil domain containing 77 341 centrosome cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 19 all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156) OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033) AGTCACCATGCTCAAAGTGAA 0.343000 37 20 0 0 1 0 0 STK11IP 114790 broad.mit.edu 37 2 220470753 220470753 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:220470753C>T ENST00000456909.1 + 9 911 c.821C>T c.(820-822)cCa>cTa p.P274L STK11IP_ENST00000295641.10_Missense_Mutation_p.P285L|STK11IP_ENST00000459692.1_3'UTR Q8N1F8 S11IP_HUMAN serine/threonine kinase 11 interacting protein 285 protein localization cytoplasm protein kinase binding breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1) 23 Renal(207;0.0183) Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GAGCTGTCACCACTGTGGCTG 0.607000 OREG0003992 type=REGULATORY REGION|Gene=STK11IP|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 6 9 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36874626 36874626 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:36874626C>T ENST00000301807.6 - 21 6563 c.4666G>A c.(4666-4668)Gag>Aag p.E1556K TRANK1_ENST00000428977.2_Missense_Mutation_p.E1556K|TRANK1_ENST00000429976.2_Missense_Mutation_p.E2106K NM_014831.2 NP_055646.2 O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 2106 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 GTTTTTTTCTCTCTCAAGTTC 0.408000 7 10 0 0 1 0 0 PGAP1 80055 broad.mit.edu 37 2 197708730 197708730 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:197708730G>A ENST00000354764.3 - 25 2521 c.2407C>T c.(2407-2409)Cgt>Tgt p.R803C NM_024989.3 NP_079265.2 Q75T13 PGAP1_HUMAN post-GPI attachment to proteins 1 803 attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport integral to membrane|intrinsic to endoplasmic reticulum membrane nuclease activity|phosphoric ester hydrolase activity breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1) 40 GCAGATAAACGAAGATGGTGT 0.353000 8 16 0 0 1 0 0 SCARA5 286133 broad.mit.edu 37 8 27845079 27845079 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:27845079G>A ENST00000354914.3 - 2 539 c.54C>T c.(52-54)tcC>tcT p.S18S SCARA5_ENST00000524352.1_Silent_p.S18S|SCARA5_ENST00000518030.1_Silent_p.S18S|SCARA5_ENST00000380385.2_Silent_p.S18S|SCARA5_ENST00000301906.4_Silent_p.S18S NM_173833.5 NP_776194.2 Q6ZMJ2 SCAR5_HUMAN scavenger receptor class A, member 5 (putative) 18 cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization integral to plasma membrane ferritin receptor activity|scavenger receptor activity central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3) 18 Ovarian(32;0.0218) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228) CCTCACAGATGGAGCTGGTGT 0.557000 32 59 0 0 1 0 0 GFRA4 64096 broad.mit.edu 37 20 3640612 3640612 + Missense_Mutation SNP C C T rs141342254 TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr20:3640612C>T ENST00000290417.2 - 6 753 c.754G>A c.(754-756)Gag>Aag p.E252K GFRA4_ENST00000319242.3_Missense_Mutation_p.E282K NM_022139.3|NM_145762.2 NP_071422.1|NP_665705.1 Q9GZZ7 GFRA4_HUMAN GDNF family receptor alpha 4 282 anchored to membrane|extracellular region|plasma membrane receptor activity large_intestine(1)|lung(2) 3 GAGCGTCTCTCCAGGGCCCTG 0.642000 5 1 0 0 1 0 0 SLC5A2 6524 broad.mit.edu 37 16 31498667 31498667 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr16:31498667G>A ENST00000330498.3 + 6 620 c.601G>A c.(601-603)Gac>Aac p.D201N NM_003041.3 NP_003032.1 P31639 SC5A2_HUMAN solute carrier family 5 (sodium/glucose cotransporter), member 2 201 carbohydrate metabolic process integral to membrane low-affinity glucose:sodium symporter activity endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 25 GATGTACACGGACACGGTACA 0.637000 113 199 0 0 1 0 0 POF1B 79983 broad.mit.edu 37 X 84606374 84606374 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chrX:84606374C>T ENST00000262753.4 - 5 667 c.522G>A c.(520-522)gaG>gaA p.E174E POF1B_ENST00000373145.3_Silent_p.E174E NM_024921.3 NP_079197.3 Q8WVV4 POF1B_HUMAN premature ovarian failure, 1B 174 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 TATTTAGCTTCTCCACTTTTC 0.284000 12 3 0 0 1 0 0 MYBPH 4608 broad.mit.edu 37 1 203138109 203138109 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:203138109C>T ENST00000255416.4 - 9 1399 c.1342G>A c.(1342-1344)Gat>Aat p.D448N NM_004997.2 NP_004988.2 Q13203 MYBPH_HUMAN myosin binding protein H 448 Ig-like C2-type 2. cell adhesion|regulation of striated muscle contraction myosin filament structural constituent of muscle endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1) 20 BRCA - Breast invasive adenocarcinoma(75;0.153) Colorectal(1306;0.0306) ACCCCAGAATCAAAGGGGCTG 0.562000 191 78 0 0 1 0 0 ACKR2 1238 broad.mit.edu 37 3 42906351 42906351 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:42906351G>A ENST00000422265.1 + 3 532 c.357G>A c.(355-357)atG>atA p.M119I ACKR2_ENST00000471537.1_Intron|CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000273145.2_Missense_Mutation_p.M119I|ACKR2_ENST00000442925.1_Missense_Mutation_p.M119I|KRBOX1_ENST00000426937.1_Intron NM_001296.4 NP_001287.2 atypical chemokine receptor 2 TGTGCAAGATGGTGAGCACTC 0.493000 56 95 0 0 1 0 0 UFD1L 7353 broad.mit.edu 37 22 19463094 19463094 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr22:19463094G>A ENST00000263202.9 - 2 164 c.35C>T c.(34-36)cCc>cTc p.P12L UFD1L_ENST00000484101.1_5'UTR|UFD1L_ENST00000360834.4_Missense_Mutation_p.P12L|UFD1L_ENST00000399523.1_Missense_Mutation_p.P12L NM_001035247.2|NM_005659.6 NP_001030324.2|NP_005650.2 Q92890 UFD1_HUMAN ubiquitin fusion degradation 1 like (yeast) 12 skeletal system development|ubiquitin-dependent protein catabolic process cytosol|nucleus protein binding|ubiquitin-specific protease activity large_intestine(3)|upper_aerodigestive_tract(1) 4 Colorectal(54;0.0993) GAAGACCCTGGGAATAGGGTG 0.453000 29 41 0 0 1 0 0 DYDC2 84332 broad.mit.edu 37 10 82126699 82126699 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr10:82126699C>T ENST00000372199.1 + 6 1124 c.526C>T c.(526-528)Cct>Tct p.P176S DYDC2_ENST00000444807.2_Missense_Mutation_p.P176S|DYDC2_ENST00000372197.1_Missense_Mutation_p.P176S|DYDC2_ENST00000256039.2_Missense_Mutation_p.P176S|DYDC2_ENST00000372198.1_Missense_Mutation_p.P190S Q96IM9 DYDC2_HUMAN DPY30 domain containing 2 176 protein binding breast(1)|large_intestine(3)|lung(6)|skin(1) 11 Colorectal(32;0.229) CTCCAAATCTCCTTTTTAGGT 0.408000 58 26 0 0 1 0 0 PAX4 5078 broad.mit.edu 37 7 127253091 127253091 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:127253091C>T ENST00000341640.2 - 6 881 c.676G>A c.(676-678)Gaa>Aaa p.E226K PAX4_ENST00000378740.2_Missense_Mutation_p.E226K|PAX4_ENST00000338516.3_Missense_Mutation_p.E234K|PAX4_ENST00000463946.1_Missense_Mutation_p.E224K NM_006193.2 NP_006184.2 O43316 PAX4_HUMAN paired box 4 234 cell differentiation|endocrine pancreas development|organ morphogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 AGCTGCATTTCCCACTTGAGC 0.522000 11 36 0 0 1 0 0 PKD1L1 168507 broad.mit.edu 37 7 47925508 47925508 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:47925508G>A ENST00000289672.2 - 18 3031 c.2981C>T c.(2980-2982)cCc>cTc p.P994L NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 994 REJ. cell-cell adhesion integral to membrane p.P994L(1) BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 AAGGGTCACGGGTGAAGGTTC 0.582000 25 100 0 0 1 0 0 UBR5 51366 broad.mit.edu 37 8 103269903 103269903 + Nonsense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:103269903C>T ENST00000520539.1 - 58 8750 c.8144G>A c.(8143-8145)tGg>tAg p.W2715* UBR5_ENST00000220959.4_Nonsense_Mutation_p.W2714*|UBR5_ENST00000518205.1_Nonsense_Mutation_p.W443*|UBR5_ENST00000521922.1_Nonsense_Mutation_p.W2708*|KB-431C1.5_ENST00000606361.1_RNA NM_015902.5 NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 2715 HECT. cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) TACTATTGACCAGAACCAACG 0.323000 9 9 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152281703 152281703 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:152281703C>T ENST00000368799.1 - 3 5694 c.5659G>A c.(5659-5661)Gaa>Aaa p.E1887K FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1887 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GAGGAAGCTTCATGGTGACGC 0.577000 Ichthyosis 355 198 0 0 1 0 0 RGS11 8786 broad.mit.edu 37 16 319584 319584 + Splice_Site SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr16:319584C>T ENST00000397770.3 - 16 1224 c.1206_splice c.e16-1 p.D403_splice RGS11_ENST00000316163.5_Splice_Site_p.D382_splice|ARHGDIG_ENST00000464609.1_Intron|ITFG3_ENST00000600536.1_3'UTR|ITFG3_ENST00000442458.2_3'UTR|RGS11_ENST00000359740.5_Splice_Site_p.D392_splice O94810 RGS11_HUMAN regulator of G-protein signaling 11 403 RGS. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1) 8 all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186) GGGTAGGAGTCCTACAAGAGA 0.612000 16 37 0 0 1 0 0 SH3RF2 153769 broad.mit.edu 37 5 145393542 145393542 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:145393542C>T ENST00000511217.1 + 4 1029 c.977C>T c.(976-978)cCa>cTa p.P326L SH3RF2_ENST00000359120.4_Missense_Mutation_p.P326L Q8TEC5 SH3R2_HUMAN SH3 domain containing ring finger 2 326 ligase activity|protein phosphatase 1 binding|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1) 22 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ATCAGCACCCCAGTGCTCATC 0.557000 38 96 0 0 1 0 0 GRM7 2917 broad.mit.edu 37 3 7620325 7620325 + Missense_Mutation SNP G G A rs138514405 TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:7620325G>A ENST00000486284.1 + 8 2006 c.1732G>A c.(1732-1734)Gat>Aat p.D578N GRM7_ENST00000389336.4_Missense_Mutation_p.D578N|GRM7_ENST00000402647.2_Missense_Mutation_p.D578N|GRM7_ENST00000403881.1_Missense_Mutation_p.D578N|GRM7_ENST00000357716.4_Missense_Mutation_p.D578N|GRM7_ENST00000458641.2_3'UTR NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 578 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) CGGATGCCAGGATATTCCCAT 0.522000 44 74 0 0 1 0 0 EDNRB 1910 broad.mit.edu 37 13 78474052 78474052 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr13:78474052G>A ENST00000377211.4 - 7 1558 c.1406C>T c.(1405-1407)tCc>tTc p.S469F EDNRB_ENST00000446573.1_Missense_Mutation_p.S379F|EDNRB_ENST00000334286.5_Missense_Mutation_p.S379F NM_001201397.1 NP_001188326.1 P24530 EDNRB_HUMAN endothelin receptor type B 379 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction integral to plasma membrane endothelin-B receptor activity|peptide hormone binding breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3) 42 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0933) Bosentan(DB00559) GTTAATGCAGGAATTCAGTGA 0.348000 7 51 0 0 1 0 0 LRP4 4038 broad.mit.edu 37 11 46900826 46900826 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:46900826G>A ENST00000378623.1 - 21 3097 c.2855C>T c.(2854-2856)aCc>aTc p.T952I NM_002334.3 NP_002325.2 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 4 952 endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 70 Lung(87;0.159) TCCATAGAGGGTCAGCCCAAA 0.577000 32 49 0 0 1 0 0 PIK3CD 5293 broad.mit.edu 37 1 9781283 9781283 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:9781283C>T ENST00000536656.1 + 14 2068 c.1860C>T c.(1858-1860)gcC>gcT p.A620A PIK3CD_ENST00000377346.4_Silent_p.A596A|PIK3CD_ENST00000543390.1_Silent_p.A263A|PIK3CD_ENST00000361110.2_Silent_p.A620A O00329 PK3CD_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta 596 phosphatidylinositol-mediated signaling|protein phosphorylation phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 all_lung(157;0.222) all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419) GCTCCTTCGCCATCAAGTCGC 0.647000 50 36 0 0 1 0 0 DSC2 1824 broad.mit.edu 37 18 28671027 28671027 + Missense_Mutation SNP T T A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr18:28671027T>A ENST00000280904.6 - 4 881 c.438A>T c.(436-438)gaA>gaT p.E146D DSC2_ENST00000251081.6_Missense_Mutation_p.E146D NM_024422.3 NP_077740.1 Q02487 DSC2_HUMAN desmocollin 2 146 Cadherin 1. homophilic cell adhesion desmosome|integral to membrane calcium ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(10;0.0241) CCAAGGAGTTTTCTAGCATCG 0.413000 25 25 0 0 1 0 0 SNAP91 9892 broad.mit.edu 37 6 84311136 84311136 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:84311136G>A ENST00000428679.2 - 16 1771 c.1178C>T c.(1177-1179)tCt>tTt p.S393F SNAP91_ENST00000521743.1_Missense_Mutation_p.S393F|SNAP91_ENST00000521485.1_Missense_Mutation_p.S393F|SNAP91_ENST00000369694.2_Missense_Mutation_p.S393F|SNAP91_ENST00000195649.6_Missense_Mutation_p.S393F|SNAP91_ENST00000437520.1_Intron|SNAP91_ENST00000520213.1_Intron|SNAP91_ENST00000439399.2_Missense_Mutation_p.S393F|SNAP91_ENST00000520302.1_Missense_Mutation_p.S391F O60641 AP180_HUMAN synaptosomal-associated protein, 91kDa 393 Ala-rich. clathrin coat assembly clathrin coat|coated pit|plasma membrane 1-phosphatidylinositol binding|clathrin binding breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0967) AGAGGGAACAGAGGAAAGTGC 0.448000 15 25 0 0 1 0 0 MYOCD 93649 broad.mit.edu 37 17 12626276 12626276 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr17:12626276G>A ENST00000425538.1 + 5 566 c.366G>A c.(364-366)gtG>gtA p.V122V MYOCD_ENST00000395988.1_Silent_p.V26V|MYOCD_ENST00000343344.4_Silent_p.V122V NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 122 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) TGGAGCTGGTGGAAAAAAACA 0.468000 60 32 0 0 1 0 0 CDH8 1006 broad.mit.edu 37 16 61687748 61687748 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr16:61687748C>T ENST00000577390.1 - 12 3118 c.2164G>A c.(2164-2166)Gat>Aat p.D722N CDH8_ENST00000299345.6_Intron|CDH8_ENST00000577730.1_Intron NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 722 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) ATAAATTCATCGACATCAACA 0.438000 30 48 0 0 1 0 0 LOC101929006 101929006 broad.mit.edu 37 6 29230563 29230563 + RNA SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:29230563C>T ENST00000441381.1 + 0 79 GGACTGTTTCCTGGCTCTATA 0.433000 24 54 0 0 1 0 0 ANGPT4 51378 broad.mit.edu 37 20 858803 858803 + Splice_Site SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr20:858803C>T ENST00000381922.3 - 7 1323 c.e7+1 ANGPT4_ENST00000546022.1_Splice_Site NM_015985.2 NP_057069.1 Q9Y264 ANGP4_HUMAN angiopoietin 4 anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction extracellular space receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1) 27 CCCGAACCCACCTGTATAGCT 0.622000 8 22 0 0 1 0 0 CCDC88C 440193 broad.mit.edu 37 14 91773462 91773462 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr14:91773462C>T ENST00000389857.6 - 18 3201 c.3115G>A c.(3115-3117)Gag>Aag p.E1039K NM_001080414.3 NP_001073883.2 Q9P219 DAPLE_HUMAN coiled-coil domain containing 88C 1039 microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway cytoplasm|insoluble fraction microtubule binding|PDZ domain binding|protein self-association central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1) 24 all_cancers(154;0.0468) CCCCAGGCCTCCTTCCCCTGG 0.647000 35 10 0 0 1 0 0 ACTN1 87 broad.mit.edu 37 14 69347543 69347543 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr14:69347543G>A ENST00000193403.6 - 17 2500 c.2117C>T c.(2116-2118)aCc>aTc p.T706I ACTN1_ENST00000438964.2_Missense_Mutation_p.T706I|ACTN1_ENST00000538545.2_Missense_Mutation_p.T706I|ACTN1_ENST00000376839.3_Missense_Mutation_p.T641I|ACTN1_ENST00000394419.4_Missense_Mutation_p.T706I NM_001102.3 NP_001093.1 P12814 ACTN1_HUMAN actinin, alpha 1 706 Interaction with DDN. focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere actin binding|calcium ion binding|integrin binding|vinculin binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654) GGTGTAGTTGGTGTGCTTGTT 0.572000 61 13 0 0 1 0 0 YDJC 150223 broad.mit.edu 37 22 21984272 21984272 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr22:21984272G>A ENST00000292778.6 - 1 81 c.32C>T c.(31-33)aCc>aTc p.T11I YDJC_ENST00000398873.3_Missense_Mutation_p.T11I NM_001017964.1 NP_001017964.1 A8MPS7 YDJC_HUMAN YdjC homolog (bacterial) 11 carbohydrate metabolic process hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds Colorectal(54;0.105) GTCGTCCGCGGTGACCACCAG 0.721000 3 36 0 0 1 0 0 NAA25 80018 broad.mit.edu 37 12 112528546 112528546 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:112528546G>A ENST00000261745.4 - 3 515 c.267C>T c.(265-267)taC>taT p.Y89Y NM_024953.3 NP_079229.2 Q14CX7 NAA25_HUMAN N(alpha)-acetyltransferase 25, NatB auxiliary subunit 89 cytoplasm protein binding autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 46 GCATCTCCCGGTAAAGGATAG 0.438000 28 38 0 0 1 0 0 ATRNL1 26033 broad.mit.edu 37 10 116931016 116931016 + Silent SNP T T C TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr10:116931016T>C ENST00000355044.3 + 8 1440 c.1314T>C c.(1312-1314)taT>taC p.Y438Y ATRNL1_ENST00000529665.1_3'UTR|ATRNL1_ENST00000527407.1_3'UTR NM_207303.2 NP_997186.1 Q5VV63 ATRN1_HUMAN attractin-like 1 438 integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) CTGCAATATATGGTTATACAA 0.323000 5 46 0 0 1 0 0 TBX4 9496 broad.mit.edu 37 17 59560340 59560340 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr17:59560340C>T ENST00000393853.4 + 9 1267 c.1104C>T c.(1102-1104)ttC>ttT p.F368F TBX4_ENST00000589449.1_3'UTR|TBX4_ENST00000240335.1_Silent_p.F367F P57082 TBX4_HUMAN T-box 4 367 leg morphogenesis|skeletal system morphogenesis nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 ATCACTATTTCCGTTCCCCCC 0.567000 14 21 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23896958 23896958 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr14:23896958G>A ENST00000355349.3 - 16 1886 c.1724C>T c.(1723-1725)gCc>gTc p.A575V NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 575 Myosin head-like. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) GGAGAAGTGGGCTTCAGGCTT 0.537000 41 15 0 0 1 0 0 ALK 238 broad.mit.edu 37 2 29606609 29606609 + Missense_Mutation SNP T T C TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:29606609T>C ENST00000389048.3 - 5 2177 c.1271A>G c.(1270-1272)aAc>aGc p.N424S ALK_ENST00000431873.1_Intron NM_004304.4 NP_004295.2 Q9UM73 ALK_HUMAN anaplastic lymphoma receptor tyrosine kinase 424 MAM 1. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) TTCACTGCAGTTCTTCAGGGC 0.507000 """T, Mis, A""" """NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22""" """ALCL, NSCLC, Neuroblastoma""" neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 9 30 0 0 1 0 0 SNX32 254122 broad.mit.edu 37 11 65617689 65617689 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:65617689G>A ENST00000308342.6 + 4 746 c.321G>A c.(319-321)ggG>ggA p.G107G NM_152760.2 NP_689973.2 Q86XE0 SNX32_HUMAN sorting nexin 32 107 PX. cell communication|protein transport phosphatidylinositol binding endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 READ - Rectum adenocarcinoma(159;0.171) TGGGCGAGGGGGACAGCTCTG 0.597000 27 54 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61830330 61830330 + Nonsense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr10:61830330G>A ENST00000280772.1 - 37 10500 c.10309C>T c.(10309-10311)Caa>Taa p.Q3437* ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 3437 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TCCATGGCTTGAATTGGGAGT 0.448000 31 15 0 0 1 0 0 DSG2 1829 broad.mit.edu 37 18 29111072 29111072 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr18:29111072G>A ENST00000261590.8 + 9 1346 c.1137G>A c.(1135-1137)gtG>gtA p.V379V NM_001943.3 NP_001934.2 Q14126 DSG2_HUMAN desmoglein 2 379 Cadherin 3. cellular component disassembly involved in apoptosis|homophilic cell adhesion desmosome|integral to membrane calcium ion binding breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(10;0.0068) AGGTCAAAGTGAAAAATGTGA 0.368000 33 71 0 0 1 0 0 HECW1 23072 broad.mit.edu 37 7 43484873 43484873 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:43484873C>T ENST00000395891.1 + 11 2707 c.2102C>T c.(2101-2103)tCg>tTg p.S701L HECW1_ENST00000453890.1_Missense_Mutation_p.S701L NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 701 Cys-rich. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 TACAGCGCCTCGTGCTACAGC 0.637000 29 59 0 0 1 0 0 PREX2 80243 broad.mit.edu 37 8 68934283 68934283 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:68934283C>T ENST00000288368.4 + 4 626 c.349C>T c.(349-351)Cgt>Tgt p.R117C PREX2_ENST00000529398.1_3'UTR NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 117 DH. 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 AGACAAGTTTCGTATCTATGA 0.303000 12 22 0 0 1 0 0 F8 2157 broad.mit.edu 37 X 154134829 154134829 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chrX:154134829G>A ENST00000360256.4 - 15 5439 c.5239C>T c.(5239-5241)Cct>Tct p.P1747S NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 1747 F5/8 type A 3.|Plastocyanin-like 5. 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) TTGAACTGAGGGACACTGCCA 0.443000 30 9 0 0 1 0 0 TBC1D10C 374403 broad.mit.edu 37 11 67172938 67172938 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:67172938G>A ENST00000312390.5 + 4 350 c.321G>A c.(319-321)ggG>ggA p.G107G TBC1D10C_ENST00000526387.1_Silent_p.G107G|TBC1D10C_ENST00000542590.1_Silent_p.G107G NM_198517.3 NP_940919.1 Q8IV04 TB10C_HUMAN TBC1 domain family, member 10C 107 Rab-GAP TBC. intracellular Rab GTPase activator activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) TGTTGTGTGGGGCCCATGTGT 0.642000 23 41 0 0 1 0 0 IRS4 8471 broad.mit.edu 37 X 107978058 107978058 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chrX:107978058C>T ENST00000372129.2 - 1 1593 c.1517G>A c.(1516-1518)gGc>gAc p.G506D NM_003604.2 NP_003595.1 O14654 IRS4_HUMAN insulin receptor substrate 4 506 plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1) 78 GCCATTTGAGCCCTGGCCACC 0.592000 33 53 0 0 1 0 0 TMPRSS6 164656 broad.mit.edu 37 22 37462952 37462952 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr22:37462952C>T ENST00000381792.2 - 18 2370 c.2230G>A c.(2230-2232)Gac>Aac p.D744N TMPRSS6_ENST00000346753.3_Missense_Mutation_p.D731N|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.D722N|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.D744N Q8IU80 TMPS6_HUMAN transmembrane protease, serine 6 731 Peptidase S1. angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis integral to membrane|intracellular|plasma membrane serine-type endopeptidase activity breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3) 40 CTGCACAGGTCCTGTGGGATC 0.617000 18 10 0 0 1 0 0 DSC2 1824 broad.mit.edu 37 18 28659859 28659859 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr18:28659859G>A ENST00000280904.6 - 11 2060 c.1617C>T c.(1615-1617)acC>acT p.T539T DSC2_ENST00000251081.6_Silent_p.T539T NM_024422.3 NP_077740.1 Q02487 DSC2_HUMAN desmocollin 2 539 Cadherin 4. homophilic cell adhesion desmosome|integral to membrane calcium ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(10;0.0241) CATTTTTGATGGTCTCTGCCT 0.383000 39 67 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100685187 100685187 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:100685187C>T ENST00000306151.4 + 3 10554 c.10490C>T c.(10489-10491)tCa>tTa p.S3497L NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3497 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) CCAACCAATTCATCTCCTACA 0.522000 177 276 0 0 1 0 0 TBC1D8 11138 broad.mit.edu 37 2 101654122 101654122 + Missense_Mutation SNP C C A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:101654122C>A ENST00000409318.1 - 8 1454 c.1324G>T c.(1324-1326)Ggg>Tgg p.G442W TBC1D8_ENST00000376840.4_Missense_Mutation_p.G427W NM_001102426.1 NP_001095896.1 O95759 TBCD8_HUMAN TBC1 domain family, member 8 (with GRAM domain) 427 blood circulation|positive regulation of cell proliferation intracellular|membrane calcium ion binding|Rab GTPase activator activity breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 32 TCAAGATCCCCAAATCTGTGG 0.502000 32 60 3.03874e-20 3.08053e-20 1 1 0 GABRA6 2559 broad.mit.edu 37 5 161113986 161113986 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:161113986G>A ENST00000523217.1 + 3 444 c.202G>A c.(202-204)Ggg>Agg p.G68R GABRA6_ENST00000274545.5_Missense_Mutation_p.G68R|GABRA6_ENST00000522269.1_3'UTR NM_000811.2 NP_000802.2 Q16445 GBRA6_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 6 68 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2) 57 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GACCAGTTTTGGGCCCGTGTC 0.443000 TCGA Ovarian(5;0.080) 4 33 0 0 1 0 0 HIP1R 9026 broad.mit.edu 37 12 123338711 123338711 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:123338711C>T ENST00000253083.4 + 8 824 c.699C>T c.(697-699)ctC>ctT p.L233L NM_003959.1 NP_003950.1 O75146 HIP1R_HUMAN huntingtin interacting protein 1 related 233 receptor-mediated endocytosis clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm actin binding|phosphatidylinositol binding breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 26 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2) CGGTCAAGCTCCTGTTCAAGC 0.562000 52 54 0 0 1 0 0 SLC14A2 8170 broad.mit.edu 37 18 43219782 43219782 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr18:43219782C>T ENST00000255226.6 + 7 1731 c.915C>T c.(913-915)ttC>ttT p.F305F SLC14A2_ENST00000586448.1_Silent_p.F305F NM_007163.3 NP_009094.3 Q15849 UT2_HUMAN solute carrier family 14 (urea transporter), member 2 305 apical plasma membrane|integral to membrane|membrane fraction protein binding|urea transmembrane transporter activity NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 GCGGCGTGTTCCTGGTGGCTC 0.557000 42 57 0 0 1 0 0 IL1RL2 8808 broad.mit.edu 37 2 102835496 102835496 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:102835496G>A ENST00000264257.2 + 7 934 c.808G>A c.(808-810)Gtg>Atg p.V270M IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000539491.1_Missense_Mutation_p.V270M|IL1RL2_ENST00000441515.2_Missense_Mutation_p.V152M NM_003854.2 NP_003845.2 Q9HB29 ILRL2_HUMAN interleukin 1 receptor-like 2 270 Ig-like C2-type 3. cellular defense response|innate immune response integral to plasma membrane interleukin-1, Type I, activating receptor activity breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1) 26 TAACACTTTGGTGGATGATTA 0.388000 33 48 0 0 1 0 0 TSNARE1 203062 broad.mit.edu 37 8 143413154 143413154 + Nonsense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:143413154G>A ENST00000519651.1 - 3 230 c.127C>T c.(127-129)Cag>Tag p.Q43* TSNARE1_ENST00000307180.3_Nonsense_Mutation_p.Q262*|TSNARE1_ENST00000520166.1_Nonsense_Mutation_p.Q262*|TSNARE1_ENST00000524325.1_Nonsense_Mutation_p.Q262* Q96NA8 TSNA1_HUMAN t-SNARE domain containing 1 262 vesicle-mediated transport integral to membrane breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1) 20 all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) GACATCTCCTGGAACAGCTCC 0.617000 4 10 0 0 1 0 0 TRRAP 8295 broad.mit.edu 37 7 98515105 98515105 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:98515105C>T ENST00000359863.4 + 20 2634 c.2425C>T c.(2425-2427)Ctg>Ttg p.L809L TRRAP_ENST00000446306.3_Silent_p.L808L|TRRAP_ENST00000355540.3_Silent_p.L809L NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 809 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) CTTTGTGGAGCTGTGTCTCAC 0.567000 34 48 0 0 1 0 0 IPO11 51194 broad.mit.edu 37 5 61846259 61846259 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:61846259C>T ENST00000325324.6 + 25 2485 c.2316C>T c.(2314-2316)ccC>ccT p.P772P IPO11_ENST00000409296.3_Silent_p.P812P NM_016338.4 NP_057422.3 Q9UI26 IPO11_HUMAN importin 11 772 cytoplasm|nucleus protein binding endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2) 30 Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077) Lung(70;0.0613) CGATTTTACCCTATGTTTTCA 0.343000 21 16 0 0 1 0 0 TNN 63923 broad.mit.edu 37 1 175067711 175067711 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:175067711C>T ENST00000239462.4 + 9 2212 c.2099C>T c.(2098-2100)gCc>gTc p.A700V NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 700 Fibronectin type-III 5. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) AGCAAGAAGGCCGACACCAAG 0.577000 16 84 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179465822 179465822 + Silent SNP C C T rs35647804 TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:179465822C>T ENST00000589042.1 - 288 56033 c.55809G>A c.(55807-55809)ccG>ccA p.P18603P TTN_ENST00000342992.6_Silent_p.P16035P|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.P16962P|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.P9538P|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342175.6_Silent_p.P9730P|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.P9663P|TTN-AS1_ENST00000456053.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 16962 Fibronectin type-III 34. 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) CATCATTCTTCGGGGGTTTCC 0.458000 24 55 0 0 1 0 0 GRPR 2925 broad.mit.edu 37 X 16170694 16170694 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chrX:16170694C>T ENST00000380289.2 + 3 1479 c.1081C>T c.(1081-1083)Ctc>Ttc p.L361F NM_005314.2 NP_005305.1 P30550 GRPR_HUMAN gastrin-releasing peptide receptor 361 cell proliferation integral to plasma membrane bombesin receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3) 25 Hepatocellular(33;0.183) CATGACCTCCCTCAAGAGTAC 0.527000 62 26 0 0 1 0 0 GRM5 2915 broad.mit.edu 37 11 88323880 88323880 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:88323880C>T ENST00000418177.2 - 7 1946 c.1579G>A c.(1579-1581)Gaa>Aaa p.E527K GRM5_ENST00000305447.4_Missense_Mutation_p.E527K|GRM5_ENST00000393297.1_Missense_Mutation_p.E527K|GRM5_ENST00000305432.5_Missense_Mutation_p.E527K|GRM5_ENST00000455756.2_Missense_Mutation_p.E527K P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 527 activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity p.E527K(1) NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) CAGCTGACTTCTCCCTTTCGG 0.393000 26 38 0 0 1 0 0 SLC5A8 160728 broad.mit.edu 37 12 101603398 101603398 + Missense_Mutation SNP C C T rs150527729 TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:101603398C>T ENST00000536262.2 - 1 787 c.229G>A c.(229-231)Gag>Aag p.E77K NM_145913.3 NP_666018.3 Q8N695 SC5A8_HUMAN solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8 77 apoptosis|sodium ion transport apical plasma membrane|integral to membrane monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 CGGTAGACCTCGGAGGGGGTG 0.587000 11 43 0 0 1 0 0 WHSC1 7468 broad.mit.edu 37 4 1918700 1918700 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr4:1918700G>A ENST00000503128.1 + 4 1070 c.863G>A c.(862-864)gGa>gAa p.G288E WHSC1_ENST00000508803.1_Missense_Mutation_p.G288E|WHSC1_ENST00000420906.2_Missense_Mutation_p.G288E|WHSC1_ENST00000382891.5_Missense_Mutation_p.G288E|WHSC1_ENST00000382892.2_Missense_Mutation_p.G288E|WHSC1_ENST00000514045.1_Missense_Mutation_p.G288E|WHSC1_ENST00000382895.3_Missense_Mutation_p.G288E|WHSC1_ENST00000398261.1_Missense_Mutation_p.G288E O96028 NSD2_HUMAN Wolf-Hirschhorn syndrome candidate 1 288 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|cytoplasm|nuclear membrane|nucleolus DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 48 all_epithelial(65;1.34e-05) OV - Ovarian serous cystadenocarcinoma(23;0.00606) STAD - Stomach adenocarcinoma(129;0.232) GAAGGAGAAGGACAGTTTGAA 0.448000 T IGH@ MM 24 20 0 0 1 0 0 NSD1 64324 broad.mit.edu 37 5 176562432 176562432 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:176562432C>T ENST00000439151.2 + 2 373 c.328C>T c.(328-330)Cca>Tca p.P110S NSD1_ENST00000347982.4_Intron|NSD1_ENST00000354179.4_Intron|NSD1_ENST00000361032.4_Missense_Mutation_p.P110S|NSD1_ENST00000511258.1_Intron NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 110 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) 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)|Epithelial(233;0.198) Kidney(146;0.235) AGCTCAGACGCCAATTGTTTG 0.438000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 19 40 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186277044 186277044 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:186277044G>A ENST00000445192.2 + 7 2238 c.2193G>A c.(2191-2193)aaG>aaA p.K731K PRG4_ENST00000367485.4_Silent_p.K638K|PRG4_ENST00000367483.4_Silent_p.K690K|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Silent_p.K688K NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 731 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CTGCCCCCAAGGAGCTTGCAC 0.587000 154 117 0 0 1 0 0 PLCD4 84812 broad.mit.edu 37 2 219483376 219483376 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:219483376C>T ENST00000450993.2 + 4 595 c.256C>T c.(256-258)Ccc>Tcc p.P86S PLCD4_ENST00000417849.1_Missense_Mutation_p.P86S|PLCD4_ENST00000432688.1_Missense_Mutation_p.P86S NM_032726.3 NP_116115.1 Q9BRC7 PLCD4_HUMAN phospholipase C, delta 4 86 PH. intracellular signal transduction|lipid catabolic process endoplasmic reticulum|membrane|nucleus calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3) 23 Renal(207;0.0915) Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) AGAGGAGCTCCCCCTGGAGCA 0.572000 15 33 0 0 1 0 0 PRKRIR 5612 broad.mit.edu 37 11 76062171 76062171 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:76062171G>A ENST00000260045.3 - 5 2128 c.2023C>T c.(2023-2025)Cct>Tct p.P675S NM_004705.2 NP_004696.2 O43422 P52K_HUMAN protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) 675 negative regulation of cell proliferation|response to stress|signal transduction DNA binding|metal ion binding|protein dimerization activity cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 25 TACACATTAGGAAAAAACTTG 0.428000 21 71 0 0 1 0 0 PCDH19 57526 broad.mit.edu 37 X 99662260 99662260 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chrX:99662260C>T ENST00000373034.4 - 1 3011 c.1336G>A c.(1336-1338)Gaa>Aaa p.E446K PCDH19_ENST00000255531.7_Missense_Mutation_p.E446K|PCDH19_ENST00000420881.2_Missense_Mutation_p.E446K NM_001184880.1 NP_001171809.1 Q8TAB3 PCD19_HUMAN protocadherin 19 446 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 68 TTGTCATTTTCGTCAGTGATG 0.572000 30 42 0 0 1 0 0 CST1 1469 broad.mit.edu 37 20 23731383 23731383 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr20:23731383C>T ENST00000304749.2 - 1 191 c.121G>A c.(121-123)Gat>Aat p.D41N CST1_ENST00000398402.1_Missense_Mutation_p.D41N NM_001898.2 NP_001889.2 P01037 CYTN_HUMAN cystatin SN 41 extracellular region cysteine-type endopeptidase inhibitor activity kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1) 13 Lung NSC(19;0.0676)|all_lung(19;0.148) ACCCACTCATCATTGAGGTCT 0.577000 22 20 0 0 1 0 0 ADH7 131 broad.mit.edu 37 4 100349303 100349303 + Silent SNP T T A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr4:100349303T>A ENST00000437033.2 - 4 791 c.288A>T c.(286-288)ccA>ccT p.P96P ADH7_ENST00000209665.4_Silent_p.P108P|ADH7_ENST00000482593.1_Silent_p.P39P|ADH7_ENST00000476959.1_Silent_p.P116P P40394 ADH7_HUMAN alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide 108 ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process cytosol|soluble fraction alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1) 19 OV - Ovarian serous cystadenocarcinoma(123;1.75e-08) NADH(DB00157) CTCTACATTGTGGCAGAAAGA 0.338000 20 63 0 0 1 0 0 TP63 8626 broad.mit.edu 37 3 189584501 189584501 + Missense_Mutation SNP G G A rs121908849 TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:189584501G>A ENST00000264731.3 + 6 886 c.797G>A c.(796-798)cGa>cAa p.R266Q TP63_ENST00000392463.2_Missense_Mutation_p.R172Q|TP63_ENST00000392461.3_Missense_Mutation_p.R172Q|TP63_ENST00000456148.1_Missense_Mutation_p.R172Q|TP63_ENST00000320472.5_Missense_Mutation_p.R266Q|TP63_ENST00000440651.2_Missense_Mutation_p.R266Q|TP63_ENST00000392460.3_Missense_Mutation_p.R266Q|TP63_ENST00000437221.1_Missense_Mutation_p.R172Q|TP63_ENST00000354600.5_Missense_Mutation_p.R172Q|TP63_ENST00000418709.2_Missense_Mutation_p.R266Q|TP63_ENST00000382063.4_Missense_Mutation_p.R181Q|TP63_ENST00000449992.1_Missense_Mutation_p.R87Q NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 266 R -> Q (in EEC3). anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) CATTTGATTCGAGTAGAGGGG 0.403000 HNSCC(45;0.13) 22 31 0 0 1 0 0 OR5B12 390191 broad.mit.edu 37 11 58207369 58207369 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:58207369C>T ENST00000302572.2 - 1 277 c.256G>A c.(256-258)Gga>Aga p.G86R NM_001004733.2 NP_001004733.1 Q96R08 OR5BC_HUMAN olfactory receptor, family 5, subfamily B, member 12 86 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1) 40 Esophageal squamous(5;0.0027) Breast(21;0.0778) AATTTGTCTCCTGTGAGAAAC 0.453000 25 45 0 0 1 0 0 DEAF1 10522 broad.mit.edu 37 11 687963 687963 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:687963G>A ENST00000382409.3 - 4 1096 c.612C>T c.(610-612)ccC>ccT p.P204P DEAF1_ENST00000338675.6_Silent_p.P204P NM_021008.2 NP_066288.2 O75398 DEAF1_HUMAN DEAF1 transcription factor 204 SAND. embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|extracellular region|nucleus protein binding|zinc ion binding breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 24 all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075) GGCACCGTACGGGCAGCTCAC 0.552000 22 24 0 0 1 0 0 SLC6A17 388662 broad.mit.edu 37 1 110717458 110717458 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:110717458C>T ENST00000331565.4 + 5 1114 c.629C>T c.(628-630)gCc>gTc p.A210V NM_001010898.2 NP_001010898.1 Q9H1V8 S6A17_HUMAN solute carrier family 6 (neutral amino acid transporter), member 17 210 alanine transport|glycine transport|leucine transport|proline transport cell junction|integral to plasma membrane|synaptic vesicle membrane neurotransmitter:sodium symporter activity breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 37 all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151) TACCGAGAGGCCTTGGACATC 0.582000 56 34 0 0 1 0 0 OR6T1 219874 broad.mit.edu 37 11 123814345 123814345 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:123814345G>A ENST00000321252.2 - 1 235 c.201C>T c.(199-201)tcC>tcT p.S67S NM_001005187.1 NP_001005187.1 Q8NGN1 OR6T1_HUMAN olfactory receptor, family 6, subfamily T, member 1 67 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 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;0.0401) GCTCCAGGAAGGAGAAATTCC 0.493000 33 52 0 0 1 0 0 SPOCK3 50859 broad.mit.edu 37 4 167656185 167656185 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr4:167656185C>T ENST00000357154.3 - 12 1335 c.1198G>A c.(1198-1200)Gat>Aat p.D400N SPOCK3_ENST00000535728.1_Missense_Mutation_p.D268N|SPOCK3_ENST00000510741.1_Missense_Mutation_p.D357N|SPOCK3_ENST00000506886.1_Missense_Mutation_p.D400N|SPOCK3_ENST00000511531.1_Missense_Mutation_p.D400N|SPOCK3_ENST00000541637.1_Missense_Mutation_p.D302N|SPOCK3_ENST00000534949.1_Missense_Mutation_p.D304N|SPOCK3_ENST00000504953.1_Missense_Mutation_p.D397N|SPOCK3_ENST00000541354.1_Missense_Mutation_p.D280N|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000511269.1_Missense_Mutation_p.D397N|SPOCK3_ENST00000357545.4_Missense_Mutation_p.D397N|SPOCK3_ENST00000502330.1_Missense_Mutation_p.D400N|SPOCK3_ENST00000421836.2_Missense_Mutation_p.D349N|SPOCK3_ENST00000512681.1_Missense_Mutation_p.D302N NM_016950.2 NP_058646.2 Q9BQ16 TICN3_HUMAN sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 400 Asp-rich. signal transduction proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase inhibitor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 38 all_hematologic(180;0.221) Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198) GBM - Glioblastoma multiforme(119;0.02) tcctcatcatcagtccattca 0.353000 9 27 0 0 1 0 0 UBE2L3 7332 broad.mit.edu 37 22 21947178 21947178 + Missense_Mutation SNP T T C TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr22:21947178T>C ENST00000342192.4 + 2 254 c.56T>C c.(55-57)aTg>aCg p.M19T UBE2L3_ENST00000545681.1_Intron|UBE2L3_ENST00000458578.2_Missense_Mutation_p.M77T NM_003347.3 NP_003338.1 P68036 UB2L3_HUMAN ubiquitin-conjugating enzyme E2L 3 19 cell proliferation|cellular response to glucocorticoid stimulus|protein K11-linked ubiquitination|regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|nucleus|ubiquitin ligase complex ATP binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity UBE2L3/KRAS(2) large_intestine(4) 4 Colorectal(54;0.105) AAATGTGGGATGAAAAACTTC 0.423000 25 28 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10358351 10358351 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr17:10358351C>T ENST00000255381.2 - 21 2452 c.2342G>A c.(2341-2343)cGa>cAa p.R781Q CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 781 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 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 CTTTTCATCTCGCATTTCCTC 0.433000 21 9 0 0 1 0 0 KIAA1551 55196 broad.mit.edu 37 12 32134683 32134683 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:32134683C>T ENST00000312561.4 + 4 1208 c.794C>T c.(793-795)cCa>cTa p.P265L KIAA1551_ENST00000535596.1_Intron NM_018169.3 NP_060639.3 KIAA1551 TCAGCTGTACCATCACAGCAG 0.393000 11 56 0 0 1 0 0 RGL1 23179 broad.mit.edu 37 1 183775571 183775571 + Missense_Mutation SNP A A C TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:183775571A>C ENST00000304685.3 + 3 656 c.195A>C c.(193-195)aaA>aaC p.K65N RGL1_ENST00000536277.1_Intron|RGL1_ENST00000539189.1_Missense_Mutation_p.K30N|RGL1_ENST00000360851.3_Missense_Mutation_p.K30N|RGL1_ENST00000367531.1_Missense_Mutation_p.K65N NM_015149.3 NP_055964.3 Q9NZL6 RGL1_HUMAN ral guanine nucleotide dissociation stimulator-like 1 30 N-terminal Ras-GEF. cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular protein binding|Ral guanyl-nucleotide exchange factor activity breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1) 51 TCACCCTCAAAAGAGTCCAGA 0.478000 21 90 0 0 1 0 0 MDN1 23195 broad.mit.edu 37 6 90402324 90402324 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:90402324G>A ENST00000369393.3 - 63 10540 c.10425C>T c.(10423-10425)atC>atT p.I3475I MDN1_ENST00000428876.1_Silent_p.I3475I Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 3475 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) AGCGCTTGAGGATTAGCTTCC 0.577000 34 111 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152284234 152284234 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:152284234C>T ENST00000368799.1 - 3 3163 c.3128G>A c.(3127-3129)aGc>aAc p.S1043N FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1043 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTGTCTGGAGCTGTCTGCTGA 0.572000 Ichthyosis 135 713 0 0 1 0 0 CRYGA 1418 broad.mit.edu 37 2 209027999 209027999 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:209027999C>T ENST00000304502.4 - 2 200 c.181G>A c.(181-183)Ggc>Agc p.G61S NM_014617.3 NP_055432.2 crystallin, gamma A endometrium(1)|kidney(3)|large_intestine(1)|lung(7) 12 Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135) GGGTACTTGCCTCGGCGCAGG 0.557000 31 46 0 0 1 0 0 ATP6AP2 10159 broad.mit.edu 37 X 40456805 40456805 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chrX:40456805C>T ENST00000378438.4 + 5 581 c.423C>T c.(421-423)aaC>aaT p.N141N ATP6AP2_ENST00000535777.1_Intron|ATP6AP2_ENST00000544975.1_Silent_p.N65N|ATP6AP2_ENST00000535539.1_Silent_p.N109N|ATP6AP2_ENST00000486558.1_3'UTR NM_005765.2 NP_005756.2 O75787 RENR_HUMAN ATPase, H+ transporting, lysosomal accessory protein 2 141 angiotensin maturation|positive regulation of transforming growth factor-beta1 production|regulation of MAPKKK cascade external side of plasma membrane|integral to membrane protein binding|receptor activity endometrium(1)|large_intestine(1)|lung(2) 4 GGAAGGCAAACTCAGTGTTTG 0.413000 39 17 0 0 1 0 0 FCHSD2 9873 broad.mit.edu 37 11 72549866 72549866 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:72549866C>T ENST00000409314.1 - 21 2433 c.2265G>A c.(2263-2265)aaG>aaA p.K755K FCHSD2_ENST00000311172.7_Silent_p.K675K|FCHSD2_ENST00000458644.2_Silent_p.K595K|FCHSD2_ENST00000409263.1_Silent_p.K92K|FCHSD2_ENST00000409418.4_Silent_p.K731K|ATG16L2_ENST00000534905.1_Intron O94868 FCSD2_HUMAN FCH and double SH3 domains 2 731 protein binding endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1) 22 BRCA - Breast invasive adenocarcinoma(5;3.3e-05) CATCTTCAATCTTCTCTGCTG 0.498000 3 10 0 0 1 0 0 SLIT3 6586 broad.mit.edu 37 5 168123334 168123334 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:168123334G>A ENST00000519560.1 - 28 3464 c.3045C>T c.(3043-3045)atC>atT p.I1015I SLIT3_ENST00000332966.8_Silent_p.I1022I|SLIT3_ENST00000404867.3_Silent_p.I1015I NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 1015 EGF-like 3. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CGTAGTTGTTGATCCCGTCCA 0.527000 58 46 0 0 1 0 0 ZNF786 136051 broad.mit.edu 37 7 148768833 148768833 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:148768833G>A ENST00000316286.9 - 3 1045 c.773C>T c.(772-774)tCg>tTg p.S258L ZNF786_ENST00000491431.1_Missense_Mutation_p.S344L|ZNF786_ENST00000451334.3_Missense_Mutation_p.S307L Q8N393 ZN786_HUMAN zinc finger protein 786 344 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2) 26 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) GGGCAGGCGCGAGCCTGGTTT 0.721000 11 14 0 0 1 0 0 SLITRK1 114798 broad.mit.edu 37 13 84454755 84454755 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr13:84454755C>T ENST00000377084.2 - 1 1773 c.888G>A c.(886-888)gaG>gaA p.E296E NM_052910.1 NP_443142.1 Q96PX8 SLIK1_HUMAN SLIT and NTRK-like family, member 1 296 integral to membrane p.E296D(1) NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) TGGCATGATCCTCTTGCCCAT 0.552000 15 34 0 0 1 0 0 BRD8 10902 broad.mit.edu 37 5 137481495 137481495 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:137481495C>T ENST00000254900.5 - 24 3722 c.3351G>A c.(3349-3351)aaG>aaA p.K1117K NM_139199.1 NP_631938.1 Q9H0E9 BRD8_HUMAN bromodomain containing 8 1117 cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter mitochondrion|NuA4 histone acetyltransferase complex sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1) 35 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) TGGCAATCATCTTCCAGACTG 0.408000 7 21 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55537893 55537893 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:55537893C>T ENST00000220676.1 + 4 1599 c.1451C>T c.(1450-1452)tCa>tTa p.S484L NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 484 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) GGACAGTTTTCATATAGTGAA 0.373000 24 26 0 0 1 0 0 PADI1 29943 broad.mit.edu 37 1 17555245 17555245 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:17555245G>A ENST00000375471.4 + 7 870 c.778G>A c.(778-780)Gat>Aat p.D260N NM_013358.2 NP_037490.2 Q9ULC6 PADI1_HUMAN peptidyl arginine deiminase, type I 260 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 28 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197) L-Citrulline(DB00155) CCCCGATGCCGATTTCCTAGG 0.627000 130 67 0 0 1 0 0 FAM172A 83989 broad.mit.edu 37 5 93159893 93159893 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:93159893G>A ENST00000395965.3 - 8 1009 c.867C>T c.(865-867)ttC>ttT p.F289F FAM172A_ENST00000505869.1_Silent_p.F179F|FAM172A_ENST00000509739.1_Silent_p.F142F|FAM172A_ENST00000509163.1_Silent_p.F243F NM_032042.5 NP_114431.2 Q8WUF8 F172A_HUMAN family with sequence similarity 172, member A 289 endoplasmic reticulum|extracellular region endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1) 9 TGTGAGCAACGAAAAACACAT 0.413000 26 59 0 0 1 0 0 LIPJ 142910 broad.mit.edu 37 10 90356597 90356597 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr10:90356597C>T ENST00000371939.3 + 8 941 c.627C>T c.(625-627)ttC>ttT p.F209F NM_001010939.2 NP_001010939.2 Q5W064 LIPJ_HUMAN lipase, family member J 209 lipid catabolic process hydrolase activity large_intestine(4)|lung(4)|ovary(1) 9 all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222) Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05) TTAAAAAATTCATTGGTTCAA 0.308000 28 14 0 0 1 0 0 LMOD1 25802 broad.mit.edu 37 1 201869690 201869690 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:201869690C>T ENST00000367288.4 - 2 697 c.451G>A c.(451-453)Gag>Aag p.E151K NM_012134.2 NP_036266.2 P29536 LMOD1_HUMAN leiomodin 1 (smooth muscle) 151 muscle contraction cytoskeleton|cytosol|membrane fraction tropomyosin binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 ATCTTCTCCTCCTTGGGCTTC 0.567000 23 108 0 0 1 0 0 OR4S2 219431 broad.mit.edu 37 11 55419098 55419098 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:55419098C>T ENST00000312422.2 + 1 719 c.719C>T c.(718-720)tCc>tTc p.S240F NM_001004059.2 NP_001004059.2 Q8NH73 OR4S2_HUMAN olfactory receptor, family 4, subfamily S, member 2 240 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_epithelial(135;0.0748) ACCTGTGGCTCCCACATTGCC 0.483000 40 10 0 0 1 0 0 CNTN5 53942 broad.mit.edu 37 11 100211856 100211856 + Nonsense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:100211856G>A ENST00000524871.1 + 23 3239 c.2949G>A c.(2947-2949)tgG>tgA p.W983* CNTN5_ENST00000418526.2_Nonsense_Mutation_p.W909*|CNTN5_ENST00000528682.1_Nonsense_Mutation_p.W983*|CNTN5_ENST00000279463.3_Nonsense_Mutation_p.W983*|CNTN5_ENST00000524560.1_3'UTR NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 983 Fibronectin type-III 4. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) ACCTCAGGTGGGAGCAGCAAG 0.428000 38 73 0 0 1 0 0 SIGLEC6 946 broad.mit.edu 37 19 52034141 52034141 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:52034141G>A ENST00000346477.3 - 3 568 c.500C>T c.(499-501)tCt>tTt p.S167F SIGLEC6_ENST00000425629.3_Missense_Mutation_p.S167F|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.S131F|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.S156F|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.S167F|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.S167F NM_198845.4 NP_942142.3 O43699 SIGL6_HUMAN sialic acid binding Ig-like lectin 6 167 Ig-like C2-type 1. cell adhesion|cell-cell signaling cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1) 28 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165) CCAGGGCACAGAGCAGGTCAG 0.657000 51 34 0 0 1 0 0 SERPINA10 51156 broad.mit.edu 37 14 94754772 94754772 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr14:94754772C>T ENST00000554723.1 - 3 1381 c.963G>A c.(961-963)aaG>aaA p.K321K SERPINA10_ENST00000554173.1_Silent_p.K281K|SERPINA10_ENST00000393096.1_Silent_p.K281K|SERPINA10_ENST00000261994.4_Silent_p.K281K Q9UK55 ZPI_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 281 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 33 all_cancers(154;0.105) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) AACGAAAATTCTTGTCAAAGG 0.502000 20 12 0 0 1 0 0 ANKRD13D 338692 broad.mit.edu 37 11 67069777 67069777 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:67069777C>T ENST00000447274.2 + 15 2706 c.1531C>T c.(1531-1533)Ctg>Ttg p.L511L ANKRD13D_ENST00000515828.1_Silent_p.L248L|ANKRD13D_ENST00000514166.1_Silent_p.L511L|ANKRD13D_ENST00000504236.1_3'UTR|ANKRD13D_ENST00000511455.2_Silent_p.L598L|ANKRD13D_ENST00000308440.6_Silent_p.L511L Q6ZTN6 AN13D_HUMAN ankyrin repeat domain 13 family, member D 511 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1) 9 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) ACAGCGGATCCTGCAGCTGTC 0.597000 3 3 0 0 1 0 0 HDAC9 9734 broad.mit.edu 37 7 18633644 18633644 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:18633644G>A ENST00000406451.3 + 6 797 c.647G>A c.(646-648)cGa>cAa p.R216Q HDAC9_ENST00000417496.2_Missense_Mutation_p.R258Q|HDAC9_ENST00000401921.1_Missense_Mutation_p.R219Q|HDAC9_ENST00000524023.1_Missense_Mutation_p.R183Q|HDAC9_ENST00000441542.2_Missense_Mutation_p.R219Q|HDAC9_ENST00000428307.2_Missense_Mutation_p.R216Q|HDAC9_ENST00000405010.3_Missense_Mutation_p.R216Q|HDAC9_ENST00000432645.2_Missense_Mutation_p.R216Q|HDAC9_ENST00000406072.1_Missense_Mutation_p.R247Q|HDAC9_ENST00000456174.2_Missense_Mutation_p.R188Q NM_178423.1|NM_178425.2 NP_848510.1|NP_848512.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 216 Interaction with MAPK10 (By similarity). B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) TTCCCCCTTCGAAAAACTGGT 0.418000 17 32 0 0 1 0 0 TMEM176B 28959 broad.mit.edu 37 7 150490253 150490253 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:150490253C>T ENST00000447204.2 - 5 895 c.523G>A c.(523-525)Ggg>Agg p.G175R TMEM176B_ENST00000429904.2_Missense_Mutation_p.G175R|TMEM176B_ENST00000450753.2_Missense_Mutation_p.G138R|TMEM176B_ENST00000326442.5_Missense_Mutation_p.G175R|TMEM176B_ENST00000434545.1_Missense_Mutation_p.G175R|TMEM176B_ENST00000492607.1_Missense_Mutation_p.G175R NM_014020.3 NP_054739.3 Q3YBM2 T176B_HUMAN transmembrane protein 176B 175 cell differentiation|organ morphogenesis integral to membrane|nuclear membrane cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3) 19 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CATCTGTACCCAGTGGTAGGG 0.502000 29 56 0 0 1 0 0 INO80E 283899 broad.mit.edu 37 16 30012803 30012803 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr16:30012803C>T ENST00000563197.1 + 6 1482 c.465C>T c.(463-465)ccC>ccT p.P155P INO80E_ENST00000304516.7_Intron|INO80E_ENST00000567705.1_Silent_p.P138P|INO80E_ENST00000567254.1_Silent_p.P155P NM_173618.1 NP_775889.1 Q8NBZ0 IN80E_HUMAN INO80 complex subunit E 155 Pro-rich. DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ino80 complex endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1) 6 AGCCCAGTCCCCTGAGGCCCA 0.697000 8 8 0 0 1 0 0 PLA2G4A 5321 broad.mit.edu 37 1 186925455 186925455 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:186925455G>A ENST00000367466.3 + 14 1710 c.1558G>A c.(1558-1560)Gaa>Aaa p.E520K PLA2G4A_ENST00000442353.2_Missense_Mutation_p.E460K NM_024420.2 NP_077734.1 P47712 PA24A_HUMAN phospholipase A2, group IVA (cytosolic, calcium-dependent) 520 PLA2c. phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation cytosol|endoplasmic reticulum membrane calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1) 53 Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103) TGATGATGATGAACTGGATGC 0.408000 107 53 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38831833 38831833 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:38831833G>A ENST00000359357.3 + 43 6098 c.5844G>A c.(5842-5844)acG>acA p.T1948T DNAH8_ENST00000449981.2_Silent_p.T2165T|DNAH8_ENST00000441566.1_Silent_p.T1948T dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 TCTTCTTAACGATGGTGAGAA 0.289000 20 12 0 0 1 0 0 PIK3AP1 118788 broad.mit.edu 37 10 98363751 98363751 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr10:98363751C>T ENST00000339364.5 - 15 2345 c.2226G>A c.(2224-2226)atG>atA p.M742I PIK3AP1_ENST00000371109.3_Missense_Mutation_p.M341I|PIK3AP1_ENST00000371110.2_Missense_Mutation_p.M564I NM_152309.2 NP_689522.2 Q6ZUJ8 BCAP_HUMAN phosphoinositide-3-kinase adaptor protein 1 742 cytoplasm|plasma membrane NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 52 Colorectal(252;0.0442) Epithelial(162;6.29e-08)|all cancers(201;3.18e-06) TGTCCCCTTCCATCCCGCTGC 0.552000 7 0 0 0 1 0 0 CRB1 23418 broad.mit.edu 37 1 197390421 197390421 + Missense_Mutation SNP T T A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:197390421T>A ENST00000367400.3 + 6 1598 c.1463T>A c.(1462-1464)tTt>tAt p.F488Y CRB1_ENST00000543483.1_Missense_Mutation_p.F187Y|CRB1_ENST00000535699.1_Missense_Mutation_p.F419Y|CRB1_ENST00000538660.1_Missense_Mutation_p.F488Y|CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000544212.1_5'UTR|CRB1_ENST00000367399.2_Missense_Mutation_p.F376Y NM_201253.2 NP_957705.1 P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 488 Laminin G-like 1. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 ACACTTTCATTTGAGGGCGAT 0.517000 49 23 0 0 1 0 0 OPRK1 4986 broad.mit.edu 37 8 54147591 54147591 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:54147591G>A ENST00000265572.3 - 3 635 c.338C>T c.(337-339)cCc>cTc p.P113L RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000524278.1_Missense_Mutation_p.P24L|OPRK1_ENST00000520287.1_Missense_Mutation_p.P113L NM_000912.3 NP_000903.2 P41145 OPRK_HUMAN opioid receptor, kappa 1 113 behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication integral to plasma membrane kappa-opioid receptor activity|protein binding NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 43 all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136) Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193) ACTCTGAAAGGGCATGGTTGT 0.383000 32 66 0 0 1 0 0 PPFIA2 8499 broad.mit.edu 37 12 81719558 81719558 + Missense_Mutation SNP T T A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:81719558T>A ENST00000550584.2 - 21 2935 c.2640A>T c.(2638-2640)aaA>aaT p.K880N PPFIA2_ENST00000443686.3_Missense_Mutation_p.K781N|PPFIA2_ENST00000548586.1_Missense_Mutation_p.K880N|PPFIA2_ENST00000333447.7_Missense_Mutation_p.K862N|PPFIA2_ENST00000407050.4_Missense_Mutation_p.K806N|PPFIA2_ENST00000549325.1_Missense_Mutation_p.K862N|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000550359.2_Missense_Mutation_p.K727N|PPFIA2_ENST00000552948.1_Missense_Mutation_p.K880N|PPFIA2_ENST00000541017.1_Missense_Mutation_p.K97N|PPFIA2_ENST00000541570.2_Missense_Mutation_p.K447N|PPFIA2_ENST00000549396.1_Missense_Mutation_p.K880N NM_001220473.1 NP_001207402.1 B7Z663 B7Z663_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 806 NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 AAACCTACTTTTTCTTTAGTC 0.393000 8 17 0 0 1 0 0 EDC3 80153 broad.mit.edu 37 15 74964078 74964078 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr15:74964078G>A ENST00000315127.4 - 3 383 c.202C>T c.(202-204)Cca>Tca p.P68S EDC3_ENST00000568176.1_Missense_Mutation_p.P68S|EDC3_ENST00000426797.3_Missense_Mutation_p.P68S NM_001142444.1|NM_025083.3 NP_001135916.1|NP_079359.2 Q96F86 EDC3_HUMAN enhancer of mRNA decapping 3 68 Required for P-body targeting and interaction with DCP1A (By similarity). exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol protein binding|RNA binding breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 16 CCAGGTCCTGGTATCTCCAGA 0.433000 44 37 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228558433 228558433 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:228558433C>T ENST00000570156.2 + 104 23165 c.23091C>T c.(23089-23091)ttC>ttT p.F7697F OBSCN_ENST00000366707.4_Silent_p.F4374F|OBSCN_ENST00000422127.1_Silent_p.F6740F NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 6740 Protein kinase 2. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) AGCTCAAGTTCCTCCTGGCCC 0.632000 23 117 0 0 1 0 0 SNTG2 54221 broad.mit.edu 37 2 1079275 1079275 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:1079275G>A ENST00000308624.5 + 2 273 c.144G>A c.(142-144)acG>acA p.T48T SNTG2_ENST00000407292.1_Silent_p.T48T NM_018968.3 NP_061841.2 Q9NY99 SNTG2_HUMAN syntrophin, gamma 2 48 central nervous system development cytoplasm|cytoskeleton|sarcolemma|syntrophin complex actin binding|PDZ domain binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) TGAAGCTGACGAAAGAGGTGC 0.468000 19 55 0 0 1 0 0 RXFP2 122042 broad.mit.edu 37 13 32355862 32355862 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr13:32355862C>T ENST00000298386.2 + 10 911 c.840C>T c.(838-840)tgC>tgT p.C280C RXFP2_ENST00000380314.1_Silent_p.C280C NM_130806.3 NP_570718.1 Q8WXD0 RXFP2_HUMAN relaxin/insulin-like family peptide receptor 2 280 integral to membrane|plasma membrane cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1) 33 Lung SC(185;0.0262) all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535) TTCTGTCGTGCGATTCGCTCA 0.323000 4 58 0 0 1 0 0 CPA5 93979 broad.mit.edu 37 7 129989871 129989871 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:129989871C>T ENST00000485477.1 + 4 1383 c.254C>T c.(253-255)cCt>cTt p.P85L CPA5_ENST00000474905.1_Missense_Mutation_p.P85L|CPA5_ENST00000466363.2_Missense_Mutation_p.P85L|CPA5_ENST00000431780.2_Missense_Mutation_p.P85L|CPA5_ENST00000355388.3_Missense_Mutation_p.P85L|CPA5_ENST00000393213.3_Missense_Mutation_p.P85L|CPA5_ENST00000461828.1_Missense_Mutation_p.P85L Q8WXQ8 CBPA5_HUMAN carboxypeptidase A5 85 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2) 23 Melanoma(18;0.0435) ATGAGAGTTCCTTTCTCTGAA 0.517000 65 77 0 0 1 0 0 LARP6 55323 broad.mit.edu 37 15 71124999 71124999 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr15:71124999G>A ENST00000299213.8 - 3 938 c.868C>T c.(868-870)Ctg>Ttg p.L290L NM_018357.2 NP_060827.2 Q9BRS8 LARP6_HUMAN La ribonucleoprotein domain family, member 6 290 RNA processing Golgi apparatus|nucleus|ribonucleoprotein complex nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 19 ATACCAATCAGGACAGCTTTC 0.502000 16 47 0 0 1 0 0 UBE3D 90025 broad.mit.edu 37 6 83728787 83728787 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:83728787G>A ENST00000369747.3 - 8 1037 c.915C>T c.(913-915)ttC>ttT p.F305F NM_198920.1 NP_944602.1 Q7Z6J8 UB2CB_HUMAN ubiquitin protein ligase E3D 305 cytoplasm ligase activity CCAACAAGGGGAATTTTTTGA 0.378000 40 36 0 0 1 0 0 MOCS1 4337 broad.mit.edu 37 6 39874869 39874869 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:39874869G>A ENST00000308559.7 - 10 1260 c.1127C>T c.(1126-1128)tCc>tTc p.S376F MOCS1_ENST00000425303.2_Missense_Mutation_p.S392F|MOCS1_ENST00000340692.5_Missense_Mutation_p.S392F|MOCS1_ENST00000373188.2_3'UTR|MOCS1_ENST00000373175.4_3'UTR|MOCS1_ENST00000373195.3_Missense_Mutation_p.S289F|MOCS1_ENST00000373186.4_3'UTR Q9NZB8 MOCS1_HUMAN molybdenum cofactor synthesis 1 392 Molybdenum cofactor biosynthesis protein A. Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol|molybdopterin synthase complex|nucleus 4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 21 Ovarian(28;0.0355)|Colorectal(47;0.196) GGCTGGTGGGGAATTGGGGAA 0.473000 30 22 0 0 1 0 0 KRTAP6-1 337966 broad.mit.edu 37 21 31986039 31986039 + Missense_Mutation SNP C C T rs144374144 TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr21:31986039C>T ENST00000329122.2 - 1 210 c.185G>A c.(184-186)gGa>gAa p.G62E NM_181602.1 NP_853633.1 Q3LI64 KRA61_HUMAN keratin associated protein 6-1 62 cytosol|intermediate filament p.G62V(1) breast(2)|endometrium(1)|lung(7) 10 AGAGCCGCATCCATAGCCATA 0.562000 80 127 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 70889137 70889137 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr16:70889137C>T ENST00000393567.2 - 73 12487 c.12337G>A c.(12337-12339)Gag>Aag p.E4113K NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 4113 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) AACCCCTGCTCCTCCTTGTTA 0.547000 30 67 0 0 1 0 0 ARHGAP30 257106 broad.mit.edu 37 1 161018781 161018781 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:161018781C>T ENST00000368013.3 - 12 2350 c.2030G>A c.(2029-2031)gGa>gAa p.G677E ARHGAP30_ENST00000368016.3_Missense_Mutation_p.G677E|ARHGAP30_ENST00000368015.1_Missense_Mutation_p.G500E NM_001025598.1|NM_181720.2 NP_001020769.1|NP_859071.2 Q7Z6I6 RHG30_HUMAN Rho GTPase activating protein 30 677 Glu-rich. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) CTCTGGACTTCCCTCTGCCTC 0.592000 158 66 0 0 1 0 0 ZNF217 7764 broad.mit.edu 37 20 52192400 52192400 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr20:52192400G>A ENST00000371471.2 - 4 3328 c.2903C>T c.(2902-2904)cCc>cTc p.P968L ZNF217_ENST00000302342.3_Missense_Mutation_p.P968L O75362 ZN217_HUMAN zinc finger protein 217 968 negative regulation of transcription, DNA-dependent histone deacetylase complex protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398) BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198) CCTTGGTTTGGGAGGCAGCGC 0.532000 33 46 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158655074 158655074 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:158655074C>T ENST00000368148.3 - 2 268 c.88G>A c.(88-90)Gaa>Aaa p.E30K SPTA1_ENST00000368147.3_Missense_Mutation_p.E30K NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 30 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) GTCAACACTTCCTGACGCCTC 0.473000 82 45 0 0 1 0 0 KPNA5 3841 broad.mit.edu 37 6 117053478 117053478 + Nonsense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:117053478C>T ENST00000368564.1 + 14 1760 c.1612C>T c.(1612-1614)Caa>Taa p.Q538* KPNA5_ENST00000356348.1_Nonsense_Mutation_p.Q538* O15131 IMA5_HUMAN karyopherin alpha 5 (importin alpha 6) 535 NLS-bearing substrate import into nucleus cytoplasm|nuclear pore protein binding|protein transporter activity breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212) GGATGGATTTCAACTTTAACT 0.373000 17 49 0 0 1 0 0 BHLHB9 80823 broad.mit.edu 37 X 102005056 102005056 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chrX:102005056C>T ENST00000372735.1 + 4 1718 c.1133C>T c.(1132-1134)tCc>tTc p.S378F BHLHB9_ENST00000361229.4_Missense_Mutation_p.S378F|BHLHB9_ENST00000448867.1_Missense_Mutation_p.S378F|BHLHB9_ENST00000457056.1_Missense_Mutation_p.S378F|BHLHB9_ENST00000447531.1_Missense_Mutation_p.S378F Q6PI77 BHLH9_HUMAN basic helix-loop-helix domain containing, class B, 9 378 cytoplasm|nucleus binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 AGTTTTCCTTCCCCTGAAATG 0.383000 22 1 0 0 1 0 0 FRMD7 90167 broad.mit.edu 37 X 131218612 131218612 + Splice_Site SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chrX:131218612C>T ENST00000298542.4 - 8 822 c.645_splice c.e8-1 p.G216_splice FRMD7_ENST00000370879.1_Splice_Site_p.G96_splice|FRMD7_ENST00000464296.1_Splice_Site_p.G201_splice NM_194277.2 NP_919253.1 Q6ZUT3 FRMD7_HUMAN FERM domain containing 7 216 FERM. regulation of neuron projection development cytoskeleton|growth cone|neuronal cell body binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 Acute lymphoblastic leukemia(192;0.000127) CTTTGTATTTCCCTACAATGA 0.358000 21 4 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 94067104 94067104 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr14:94067104C>T ENST00000553484.1 + 25 3716 c.3562C>T c.(3562-3564)Cct>Tct p.P1188S UNC79_ENST00000256339.4_Missense_Mutation_p.P1011S|UNC79_ENST00000393151.2_Missense_Mutation_p.P1188S|UNC79_ENST00000555664.1_Missense_Mutation_p.P1188S Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 1188 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 CAAGGAATTTCCTTTTCCTAC 0.403000 21 7 0 0 1 0 0 IL1F10 84639 broad.mit.edu 37 2 113832414 113832414 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:113832414C>T ENST00000393197.2 + 3 654 c.233C>T c.(232-234)tCc>tTc p.S78F IL1F10_ENST00000341010.2_Missense_Mutation_p.S78F|IL1F10_ENST00000337569.3_Missense_Mutation_p.S78F NM_032556.5 NP_115945.4 Q8WWZ1 IL1FA_HUMAN interleukin 1 family, member 10 (theta) 78 extracellular space cytokine activity|interleukin-1 receptor antagonist activity endometrium(1)|lung(6)|ovary(1) 8 GAGGGGCCTTCCCTACAGCTG 0.607000 19 20 0 0 1 0 0 ALDH1A2 8854 broad.mit.edu 37 15 58285269 58285269 + Nonsense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr15:58285269C>T ENST00000249750.4 - 6 1325 c.558G>A c.(556-558)tgG>tgA p.W186* ALDH1A2_ENST00000347587.3_Nonsense_Mutation_p.W186*|ALDH1A2_ENST00000559517.1_Nonsense_Mutation_p.W90*|ALDH1A2_ENST00000558231.1_Nonsense_Mutation_p.W157*|ALDH1A2_ENST00000537372.1_Nonsense_Mutation_p.W165* NM_003888.3 NP_003879.2 O94788 AL1A2_HUMAN aldehyde dehydrogenase 1 family, member A2 186 negative regulation of cell proliferation|neural tube development|response to cytokine stimulus nucleus 3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18) NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) GGGGGAAGTTCCACTGAAAGG 0.418000 11 26 0 0 1 0 0 SLIT2 9353 broad.mit.edu 37 4 20611712 20611712 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr4:20611712G>A ENST00000504154.1 + 34 4021 c.3769G>A c.(3769-3771)Gat>Aat p.D1257N SLIT2_ENST00000273739.5_Missense_Mutation_p.D1270N|SLIT2_ENST00000503823.1_Missense_Mutation_p.D1249N|SLIT2_ENST00000503837.1_Missense_Mutation_p.D1253N NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 1257 Laminin G-like. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 TTTGTCCGTGGATGGTGGGAA 0.433000 41 25 0 0 1 0 0 MST1L 11223 broad.mit.edu 37 1 17083837 17083837 + RNA SNP T T C rs7798 by1000genomes TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:17083837T>C ENST00000455405.2 - 0 751 CTAATTCCTTTCAGGACCCAG 0.572000 6 31 0 0 1 0 0 NFATC2 4773 broad.mit.edu 37 20 50049033 50049033 + Missense_Mutation SNP A A G TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr20:50049033A>G ENST00000371564.3 - 9 2512 c.2293T>C c.(2293-2295)Tat>Cat p.Y765H NFATC2_ENST00000414705.1_Missense_Mutation_p.Y745H|NFATC2_ENST00000396009.3_Missense_Mutation_p.Y765H NM_001258296.1|NM_012340.4 NP_001245225.1|NP_036472.2 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 765 B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity EWSR1/NFATC2(9) breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 53 Hepatocellular(150;0.248) GGCTGCTGATAGCCCAGCAGG 0.701000 17 37 0 0 1 0 0 ANKRD12 23253 broad.mit.edu 37 18 9258556 9258556 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr18:9258556C>T ENST00000383440.2 + 8 5479 c.5222C>T c.(5221-5223)tCc>tTc p.S1741F ANKRD12_ENST00000400020.3_Missense_Mutation_p.S1741F|ANKRD12_ENST00000262126.3_Missense_Mutation_p.S1764F NM_001083625.2 NP_001077094.1 Q6UB98 ANR12_HUMAN ankyrin repeat domain 12 1764 nucleus NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2) 65 GACAGTGAATCCTCATCTCCT 0.393000 18 23 0 0 1 0 0 TPTE 7179 broad.mit.edu 37 21 10944679 10944679 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr21:10944679C>T ENST00000298232.7 - 10 868 c.501G>A c.(499-501)agG>agA p.R167R TPTE_ENST00000361285.4_Silent_p.R185R|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Silent_p.R147R NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 185 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 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) TGGGAATATTCCTAAGCAACT 0.284000 21 164 0 0 1 0 0 FLI1 2313 broad.mit.edu 37 11 128634704 128634704 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:128634704G>A ENST00000281428.8 + 1 20 c.20G>A c.(19-21)gGc>gAc p.G7D FLI1_ENST00000429175.2_Intron|FLI1_ENST00000534087.1_Intron|FLI1_ENST00000344954.6_Intron|FLI1_ENST00000527767.2_Intron|FLI1_ENST00000525560.1_Intron NM_001271010.1 NP_001257939.1 Q01543 FLI1_HUMAN Fli-1 proto-oncogene, ETS transcription factor 0 hemostasis|organ morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity EWSR1/FLI1(2569) NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2) 31 all_hematologic(175;0.0641) Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182) OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327) GGACTGGCAGGCGAGCGGGCG 0.662000 T EWSR1 Ewing sarcoma 3 10 0 0 1 0 0 KRT6B 3854 broad.mit.edu 37 12 52842734 52842734 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:52842734G>A ENST00000252252.3 - 6 1142 c.1095C>T c.(1093-1095)atC>atT p.I365I NM_005555.3 NP_005546.2 P04259 K2C6B_HUMAN keratin 6B 365 Coil 2.|Rod. I -> V (in dbSNP:rs437014). 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) TGCCTGCTGTGATCTGCAGCT 0.537000 38 37 0 0 1 0 0 STK10 6793 broad.mit.edu 37 5 171520516 171520516 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:171520516G>A ENST00000176763.5 - 9 1797 c.1454C>T c.(1453-1455)tCg>tTg p.S485L STK10_ENST00000517775.1_5'UTR NM_005990.3 NP_005981.3 O94804 STK10_HUMAN serine/threonine kinase 10 485 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) GCTGCAGTCCGAGTCCCTCTT 0.607000 55 100 0 0 1 0 0 LOC100128164 100128164 broad.mit.edu 37 3 169664211 169664211 + RNA SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:169664211C>T ENST00000483289.2 - 0 3083 RP11-379K17.4_ENST00000487580.1_RNA NR_027622.1 GATCTCCTGCCACAAAGGCCT 0.512000 26 40 0 0 1 0 0 TRAK1 22906 broad.mit.edu 37 3 42229622 42229622 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:42229622C>T ENST00000327628.5 + 5 966 c.566C>T c.(565-567)tCc>tTc p.S189F TRAK1_ENST00000449246.1_Missense_Mutation_p.S115F|TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000341421.3_Missense_Mutation_p.S131F|TRAK1_ENST00000396175.1_Missense_Mutation_p.S131F NM_001042646.2 NP_001036111.1 Q9UPV9 TRAK1_HUMAN trafficking protein, kinesin binding 1 189 HAP1 N-terminal. endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter early endosome|mitochondrion|nucleus central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 22 GAGCCCGAGTCCGTTTGCTCA 0.582000 60 63 0 0 1 0 0 SLC38A4 55089 broad.mit.edu 37 12 47186797 47186797 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:47186797C>T ENST00000447411.1 - 2 264 c.58G>A c.(58-60)Gga>Aga p.G20R SLC38A4_ENST00000266579.4_Missense_Mutation_p.G20R NM_001143824.1 NP_001137296.1 Q969I6 S38A4_HUMAN solute carrier family 38, member 4 20 cellular nitrogen compound metabolic process|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 21 Lung SC(27;0.192)|Renal(347;0.236) GCACTTTCTCCACTGCTGCTC 0.443000 49 52 0 0 1 0 0 GRM8 2918 broad.mit.edu 37 7 126173355 126173355 + Missense_Mutation SNP G G T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:126173355G>T ENST00000339582.2 - 9 2889 c.2081C>A c.(2080-2082)tCt>tAt p.S694Y GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.S694Y|GRM8_ENST00000444921.2_Missense_Mutation_p.S694Y O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 694 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) CACCAGCTGAGATGCTGGACT 0.498000 HNSCC(24;0.065) 37 26 2.19489e-29 2.22804e-29 1 1 0 TMEM131 23505 broad.mit.edu 37 2 98378574 98378574 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:98378574G>A ENST00000186436.5 - 36 5041 c.4813C>T c.(4813-4815)Ccg>Tcg p.P1605S NM_015348.1 NP_056163.1 Q92545 TM131_HUMAN transmembrane protein 131 1605 integral to membrane NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1) 57 GGGGGAGACGGGGAAGCAGGT 0.547000 23 38 0 0 1 0 0 BCLAF1 9774 broad.mit.edu 37 6 136599037 136599037 + Nonsense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:136599037G>A ENST00000531224.1 - 4 1234 c.982C>T c.(982-984)Cag>Tag p.Q328* BCLAF1_ENST00000527536.1_Nonsense_Mutation_p.Q328*|BCLAF1_ENST00000353331.4_Nonsense_Mutation_p.Q326*|BCLAF1_ENST00000392348.2_Nonsense_Mutation_p.Q326*|BCLAF1_ENST00000527759.1_Nonsense_Mutation_p.Q326*|BCLAF1_ENST00000530767.1_Nonsense_Mutation_p.Q328* NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 328 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) GCAGTTTCCTGATCTCCACCA 0.388000 21 71 0 0 1 0 0 LPPR2 64748 broad.mit.edu 37 19 11470529 11470529 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:11470529C>T ENST00000251473.5 + 5 664 c.288C>T c.(286-288)ttC>ttT p.F96F DKFZP761J1410_ENST00000591608.1_Silent_p.F71F NM_001170635.1|NM_022737.2 NP_001164106.1|NP_073574.2 GTGCCTTTTTCCCTGCACCAC 0.657000 13 21 0 0 1 0 0 HHIP 64399 broad.mit.edu 37 4 145568084 145568084 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr4:145568084G>A ENST00000296575.3 + 1 912 c.257G>A c.(256-258)gGg>gAg p.G86E HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000434550.2_Missense_Mutation_p.G86E NM_022475.2 NP_071920.1 Q96QV1 HHIP_HUMAN hedgehog interacting protein 86 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) GACAGCCCGGGGCTAGGGCGC 0.632000 16 63 0 0 1 0 0 EDIL3 10085 broad.mit.edu 37 5 83402469 83402469 + Nonsense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:83402469G>A ENST00000296591.5 - 6 1067 c.649C>T c.(649-651)Cag>Tag p.Q217* EDIL3_ENST00000380138.3_Nonsense_Mutation_p.Q207* NM_005711.3 NP_005702.3 O43854 EDIL3_HUMAN EGF-like repeats and discoidin I-like domains 3 217 F5/8 type C 1. cell adhesion|multicellular organismal development extracellular region calcium ion binding|integrin binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3) 31 Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425) OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26) TCTGTTACCTGAATCCACGGC 0.393000 24 56 0 0 1 0 0 GRIK3 2899 broad.mit.edu 37 1 37267588 37267588 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:37267588C>T ENST00000373091.3 - 16 2640 c.2624G>A c.(2623-2625)cGa>cAa p.R875Q NM_000831.3 NP_000822.2 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 875 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) GTGCTTGACTCGACGCTGGCA 0.592000 8 62 0 0 1 0 0 OR2M5 127059 broad.mit.edu 37 1 248308966 248308966 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:248308966G>A ENST00000366476.1 + 1 517 c.517G>A c.(517-519)Gaa>Aaa p.E173K NM_001004690.1 NP_001004690.1 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, member 5 173 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E173K(1) NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 49 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) TGGGTCTCGGGAAATAGCCCA 0.428000 213 137 0 0 1 0 0 EEFSEC 60678 broad.mit.edu 37 3 127965702 127965702 + Missense_Mutation SNP A A T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:127965702A>T ENST00000254730.6 + 2 394 c.340A>T c.(340-342)Atg>Ttg p.M114L EEFSEC_ENST00000483457.1_Missense_Mutation_p.M114L NM_021937.3 NP_068756.2 P57772 SELB_HUMAN eukaryotic elongation factor, selenocysteine-tRNA-specific 114 cytoplasm|nucleus GTP binding|GTPase activity|translation elongation factor activity NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1) 25 TGATCTGATGATGCTGGTCAT 0.542000 94 136 0 0 1 0 0 ADAMTS15 170689 broad.mit.edu 37 11 130343515 130343515 + Silent SNP C C T rs143168028 TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:130343515C>T ENST00000299164.2 + 8 2652 c.2652C>T c.(2650-2652)ccC>ccT p.P884P NM_139055.2 NP_620686.1 Q8TE58 ATS15_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 15 884 TSP type-1 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1) 36 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215) CCCATCGGCCCGTGGAGACAC 0.726000 24 35 0 0 1 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77401558 77401558 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr16:77401558G>A ENST00000282849.5 - 4 976 c.558C>T c.(556-558)gcC>gcT p.A186A ADAMTS18_ENST00000567121.1_5'UTR NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 186 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 TGTGTTCCTGGGCCAGAAGCT 0.493000 26 37 0 0 1 0 0 MMP19 4327 broad.mit.edu 37 12 56231153 56231153 + Silent SNP G G A rs139275281 TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:56231153G>A ENST00000394182.1 - 4 335 c.336C>T c.(334-336)tcC>tcT p.S112S MMP19_ENST00000409200.3_3'UTR|MMP19_ENST00000322569.4_Silent_p.S398S|MMP19_ENST00000548629.1_Silent_p.S375S Q99542 MMP19_HUMAN matrix metallopeptidase 19 398 angiogenesis|cell differentiation|collagen catabolic process|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2) 26 GCCAGTACCCGGAGCCCTGGA 0.612000 40 35 0 0 1 0 0 SMTNL2 342527 broad.mit.edu 37 17 4496433 4496433 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr17:4496433G>A ENST00000389313.4 + 3 764 c.697G>A c.(697-699)Gag>Aag p.E233K SMTNL2_ENST00000338859.4_Missense_Mutation_p.E89K NM_001114974.1 NP_001108446.1 Q2TAL5 SMTL2_HUMAN smoothelin-like 2 233 breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1) 13 READ - Rectum adenocarcinoma(115;0.0325) AAGCCCCAGCGAGGTCATCAC 0.652000 29 10 0 0 1 0 0 FSTL5 56884 broad.mit.edu 37 4 163032490 163032490 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr4:163032490C>T ENST00000306100.5 - 2 495 c.59G>A c.(58-60)gGa>gAa p.G20E FSTL5_ENST00000379164.4_Missense_Mutation_p.G20E|FSTL5_ENST00000427802.2_Missense_Mutation_p.G20E|FSTL5_ENST00000536695.1_Missense_Mutation_p.G20E NM_001128427.2|NM_020116.4 NP_001121899.1|NP_064501.2 Q8N475 FSTL5_HUMAN follistatin-like 5 20 extracellular region calcium ion binding central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) GGTTGGCCTTCCTTCCGACTC 0.403000 43 33 0 0 1 0 0 OR5H2 79310 broad.mit.edu 37 3 98002430 98002430 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:98002430G>A ENST00000355273.2 + 1 699 c.699G>A c.(697-699)aaG>aaA p.K233K RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005482.1 NP_001005482.1 Q8NGV7 OR5H2_HUMAN olfactory receptor, family 5, subfamily H, member 2 233 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1) 24 TCCTAAAAAAGAAGTCTGTTA 0.373000 14 26 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179640866 179640866 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:179640866C>T ENST00000589042.1 - 28 5949 c.5725G>A c.(5725-5727)Gaa>Aaa p.E1909K TTN_ENST00000342992.6_Missense_Mutation_p.E1909K|TTN_ENST00000591111.1_Missense_Mutation_p.E1909K|TTN_ENST00000360870.5_Missense_Mutation_p.E1909K|TTN_ENST00000460472.2_Missense_Mutation_p.E1863K|TTN_ENST00000342175.6_Missense_Mutation_p.E1863K|TTN_ENST00000359218.5_Missense_Mutation_p.E1863K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1627 Ig-like 9. 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) ACCTTCACTTCACCTGTGTCA 0.458000 80 135 0 0 1 0 0 ATP8B4 79895 broad.mit.edu 37 15 50209163 50209163 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr15:50209163C>T ENST00000284509.6 - 20 2250 c.2109G>A c.(2107-2109)ggG>ggA p.G703G ATP8B4_ENST00000559829.1_Silent_p.G703G NM_024837.2 NP_079113.2 Q8TF62 AT8B4_HUMAN ATPase, class I, type 8B, member 4 703 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) CAGCATTATTCCCTGCTATCA 0.448000 7 37 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 3200941 3200941 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:3200941G>A ENST00000602557.1 - 24 4064 c.3509C>T c.(3508-3510)cCa>cTa p.P1170L CSMD1_ENST00000602723.1_Missense_Mutation_p.P1170L|CSMD1_ENST00000520002.1_Missense_Mutation_p.P1170L|CSMD1_ENST00000542608.1_Missense_Mutation_p.P1169L|CSMD1_ENST00000400186.3_Missense_Mutation_p.P1170L|CSMD1_ENST00000539096.1_Missense_Mutation_p.P1169L|CSMD1_ENST00000537824.1_Missense_Mutation_p.P1169L Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 1170 CUB 7. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CGTGCCCAGTGGACGTGAGGA 0.438000 15 26 0 0 1 0 0 PRDM1 639 broad.mit.edu 37 6 106553490 106553490 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:106553490G>A ENST00000369096.4 + 5 1689 c.1455G>A c.(1453-1455)agG>agA p.R485R PRDM1_ENST00000369089.3_Silent_p.R351R|PRDM1_ENST00000369091.2_Silent_p.R449R NM_001198.3 NP_001189.2 O75626 PRDM1_HUMAN PR domain containing 1, with ZNF domain 485 negative regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2) 94 Breast(9;0.022) all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365) all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05) AGCATCCCAGGGAGGTGCTTG 0.687000 """D, N, Mis, F, S""" DLBCL 47 72 0 0 1 0 0 POTEF 728378 broad.mit.edu 37 2 130832362 130832362 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:130832362C>T ENST00000357462.5 - 15 2776 c.2683G>A c.(2683-2685)Gag>Aag p.E895K POTEF_ENST00000409914.2_Missense_Mutation_p.E895K A5A3E0 POTEF_HUMAN POTE ankyrin domain family, member F 895 Actin-like. cell cortex ATP binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 53 TAGCCATGCTCGGTGAGGATC 0.587000 58 21 0 0 1 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T C rs11554290 TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:115256529T>C ENST00000369535.4 - 3 435 c.182A>G c.(181-183)cAa>cGa p.Q61R NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 120 64 0 0 1 0 0 BMS1P20 96610 broad.mit.edu 37 22 22661366 22661366 + RNA SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr22:22661366G>A ENST00000426066.1 + 0 360 NR_027293.1 CAACAGCGAGGGAAATGTTGG 0.507000 4 48 0 0 1 0 0 OR2L13 284521 broad.mit.edu 37 1 248263418 248263418 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:248263418G>A ENST00000366478.2 + 3 1078 c.741G>A c.(739-741)gtG>gtA p.V247V OR2L13_ENST00000358120.2_Silent_p.V247V NM_175911.2 NP_787107.1 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, member 13 247 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 59 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0132) TAACTGTAGTGATCTTTTACT 0.458000 51 30 0 0 1 0 0 LAMB1 3912 broad.mit.edu 37 7 107580511 107580511 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:107580511G>A ENST00000393561.1 - 23 3940 c.3756C>T c.(3754-3756)agC>agT p.S1252S LAMB1_ENST00000222399.6_Silent_p.S1228S P07942 LAMB1_HUMAN laminin, beta 1 1228 Domain II. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent p.S1228S(1) NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CTTTTATCTCGCTGACTTTCC 0.517000 45 59 0 0 1 0 0 SCNN1G 6340 broad.mit.edu 37 16 23221074 23221074 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr16:23221074G>A ENST00000300061.2 + 7 1224 c.1081G>A c.(1081-1083)Gag>Aag p.E361K CTC-391G2.1_ENST00000563471.1_RNA NM_001039.3 NP_001030.2 P51170 SCNNG_HUMAN sodium channel, non-voltage-gated 1, gamma subunit 361 excretion|sensory perception of taste apical plasma membrane|integral to plasma membrane ligand-gated sodium channel activity|WW domain binding NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 34 GBM - Glioblastoma multiforme(48;0.0366) Amiloride(DB00594)|Triamterene(DB00384) ATTGCAGACAGAGTCCTTCAA 0.602000 30 56 0 0 1 0 0 SLC4A8 9498 broad.mit.edu 37 12 51853873 51853873 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:51853873G>A ENST00000453097.2 + 8 1211 c.994G>A c.(994-996)Gaa>Aaa p.E332K SLC4A8_ENST00000514353.3_Missense_Mutation_p.E279K|SLC4A8_ENST00000394856.1_Missense_Mutation_p.E279K|SLC4A8_ENST00000535225.2_Missense_Mutation_p.E279K|SLC4A8_ENST00000358657.3_Missense_Mutation_p.E359K NM_001039960.2|NM_001258401.2 NP_001035049.1|NP_001245330.1 Q2Y0W8 S4A8_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 8 332 bicarbonate transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5) 55 BRCA - Breast invasive adenocarcinoma(357;0.15) AGGCCTAACAGAAGTGCCAAT 0.443000 26 112 0 0 1 0 0 PM20D1 148811 broad.mit.edu 37 1 205801747 205801747 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:205801747C>T ENST00000367136.4 - 11 1308 c.1264G>A c.(1264-1266)Gaa>Aaa p.E422K PM20D1_ENST00000460624.1_5'UTR NM_152491.4 NP_689704.4 Q6GTS8 P20D1_HUMAN peptidase M20 domain containing 1 422 extracellular region metal ion binding|peptidase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1) 28 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0252) ATATTGACTTCCGGGAAGACG 0.577000 14 70 0 0 1 0 0 NCKAP5 344148 broad.mit.edu 37 2 133539526 133539526 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:133539526C>T ENST00000409261.1 - 14 5231 c.4858G>A c.(4858-4860)Gaa>Aaa p.E1620K NCKAP5_ENST00000317721.6_Missense_Mutation_p.E1620K|NCKAP5_ENST00000473859.1_5'UTR|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 1620 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 TTCAAGAGTTCCGTCATGAAG 0.448000 18 41 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152326973 152326973 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:152326973C>T ENST00000388718.5 - 3 3361 c.3289G>A c.(3289-3291)Gga>Aga p.G1097R FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1097 Ser-rich. calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GATGTCTGTCCTGAATTTGAC 0.488000 103 399 0 0 1 0 0 FTHL17 53940 broad.mit.edu 37 X 31090062 31090062 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chrX:31090062G>A ENST00000359202.3 - 1 108 c.9C>T c.(7-9)acC>acT p.T3T NM_031894.2 NP_114100.1 Q9BXU8 FHL17_HUMAN ferritin, heavy polypeptide-like 17 3 cellular iron ion homeostasis|iron ion transport ferric iron binding|oxidoreductase activity endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 23 ACGGCTGGGCGGTGGCCATGG 0.632000 14 18 0 0 1 0 0 TENM3 55714 broad.mit.edu 37 4 183600989 183600989 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr4:183600989G>A ENST00000511685.1 + 8 1620 c.1497G>A c.(1495-1497)ggG>ggA p.G499G TENM3_ENST00000406950.2_Silent_p.G499G teneurin transmembrane protein 3 ATAATGATGGGAAAAATGCAG 0.448000 4 18 0 0 1 0 0 ITGAM 3684 broad.mit.edu 37 16 31286951 31286951 + Nonsense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr16:31286951C>T ENST00000544665.3 + 9 1011 c.940C>T c.(940-942)Cag>Tag p.Q314* ITGAM_ENST00000287497.8_Nonsense_Mutation_p.Q314* NM_000632.3|NM_001145808.1 NP_000623.2|NP_001139280.1 P11215 ITAM_HUMAN integrin, alpha M (complement component 3 receptor 3 subunit) 314 VWFA. blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1) 56 TCACGTGTTCCAGGTGAATAA 0.527000 14 34 0 0 1 0 0 BCL11B 64919 broad.mit.edu 37 14 99641075 99641075 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr14:99641075C>T ENST00000345514.2 - 3 2151 c.1885G>A c.(1885-1887)Gcg>Acg p.A629T BCL11B_ENST00000443726.2_Missense_Mutation_p.A506T|BCL11B_ENST00000357195.3_Missense_Mutation_p.A700T NM_022898.1 NP_075049.1 Q9C0K0 BC11B_HUMAN B-cell CLL/lymphoma 11B (zinc finger protein) 700 Gly-rich. nucleus zinc ion binding NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2) 34 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) GGGATGAGCGCGGCGGGCGGC 0.706000 T TLX3 T-ALL 26 10 0 0 1 0 0 TIAM1 7074 broad.mit.edu 37 21 32502614 32502614 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr21:32502614G>A ENST00000286827.3 - 26 4433 c.3962C>T c.(3961-3963)tCc>tTc p.S1321F TIAM1_ENST00000541036.1_Missense_Mutation_p.S1261F NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 1321 PH 2. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 CTCATAAATGGAAAGCCTGTG 0.527000 62 75 0 0 1 0 0 CIB3 117286 broad.mit.edu 37 19 16275658 16275658 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:16275658C>T ENST00000269878.4 - 5 462 c.413G>A c.(412-414)gGg>gAg p.G138E CIB3_ENST00000541493.1_5'UTR|CIB3_ENST00000379859.3_Missense_Mutation_p.G89E NM_054113.2 NP_473454.1 Q96Q77 CIB3_HUMAN calcium and integrin binding family member 3 138 EF-hand 2. calcium ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2) 16 ACTCAGCCCCCCCCGCGTCAG 0.577000 32 54 0 0 1 0 0 C5AR1 728 broad.mit.edu 37 19 47823882 47823882 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:47823882C>T ENST00000355085.3 + 2 870 c.848C>T c.(847-849)tCc>tTc p.S283F NM_001736.3 NP_001727.1 P21730 C5AR_HUMAN complement component 5a receptor 1 283 activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus integral to plasma membrane C5a anaphylatoxin receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1) 20 all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242) AAGCTGGACTCCCTGTGTGTC 0.567000 47 50 0 0 1 0 0 MIR143 406935 broad.mit.edu 37 5 148808503 148808503 + RNA SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:148808503C>T ENST00000385300.1 + 0 23 NR_029684.1 GTCTCCCAGCCTGAGGTGCAG 0.612000 8 15 0 0 1 0 0 OR6C68 403284 broad.mit.edu 37 12 55887086 55887086 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:55887086C>T ENST00000379662.1 + 1 940 c.940C>T c.(940-942)Cgt>Tgt p.R314C OR6C68_ENST00000548615.1_Missense_Mutation_p.R309C|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA A6NDL8 O6C68_HUMAN olfactory receptor, family 6, subfamily C, member 68 309 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 15 AATTGCATTTCGTTTAAAAAA 0.279000 5 9 0 0 1 0 0 CNR2 1269 broad.mit.edu 37 1 24201229 24201229 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:24201229C>T ENST00000536471.1 - 3 1137 c.879G>A c.(877-879)atG>atA p.M293I CNR2_ENST00000374472.4_Missense_Mutation_p.M293I P34972 CNR2_HUMAN cannabinoid receptor 2 (macrophage) 293 behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response dendrite|integral to plasma membrane|perikaryon cannabinoid receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2) 26 Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146) Nabilone(DB00486) CAGGGTTGACCATGGAGTTGA 0.582000 15 89 0 0 1 0 0 SIGLEC16 400709 broad.mit.edu 37 19 50473222 50473222 + RNA SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:50473222G>A ENST00000602139.1 + 0 223 sialic acid binding Ig-like lectin 16 (gene/pseudogene) endometrium(2)|kidney(2)|lung(6) 10 TTCAAAGGATGGACCAGCCCA 0.602000 19 45 0 0 1 0 0 TAS2R38 5726 broad.mit.edu 37 7 141673385 141673385 + Silent SNP G G A rs144536521 TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:141673385G>A ENST00000547270.1 - 1 188 c.105C>T c.(103-105)ttC>ttT p.F35F NM_176817.4 NP_789787.4 P59533 T2R38_HUMAN taste receptor, type 2, member 38 35 sensory perception of taste integral to membrane G-protein coupled receptor activity NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1) 21 Melanoma(164;0.0171) CCAAGAAAACGAAGGCATTGG 0.483000 27 49 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110516651 110516651 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:110516651C>T ENST00000378402.5 + 68 11028 c.10924C>T c.(10924-10926)Cat>Tat p.H3642Y NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 3642 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GCATCCAATCCATGTGAAGAA 0.289000 HNSCC(38;0.096) 9 6 0 0 1 0 0 SHANK2 22941 broad.mit.edu 37 11 70319045 70319045 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:70319045C>T ENST00000338508.4 - 33 5481 c.5482G>A c.(5482-5484)Gat>Aat p.D1828N SHANK2_ENST00000449833.2_Missense_Mutation_p.D1232N|SHANK2_ENST00000409161.1_Missense_Mutation_p.D1231N|SHANK2_ENST00000423696.2_Missense_Mutation_p.D1448N Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 1448 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) ACCCCAAGATCGATGAGGTCC 0.502000 96 115 0 0 1 0 0 CLSTN2 64084 broad.mit.edu 37 3 140282931 140282931 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:140282931G>A ENST00000458420.3 + 16 2801 c.2611G>A c.(2611-2613)Gaa>Aaa p.E871K NM_022131.2 NP_071414.2 Q9H4D0 CSTN2_HUMAN calsyntenin 2 871 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 GGCTGCCAAGGAATCTGAGAT 0.577000 HNSCC(16;0.037) 49 80 0 0 1 0 0 CYLC1 1538 broad.mit.edu 37 X 83128806 83128806 + Missense_Mutation SNP A A C TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chrX:83128806A>C ENST00000329312.4 + 4 1127 c.1090A>C c.(1090-1092)Aag>Cag p.K364Q NM_021118.1 NP_066941.1 P35663 CYLC1_HUMAN cylicin, basic protein of sperm head cytoskeleton 1 364 cell differentiation|multicellular organismal development|spermatogenesis acrosomal matrix|cytoskeletal calyx structural molecule activity NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 58 aaaggacacaaagaaGTACCC 0.348000 6 3 0 0 1 0 0 DIAPH2 1730 broad.mit.edu 37 X 96369745 96369745 + Silent SNP A A G TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chrX:96369745A>G ENST00000324765.8 + 21 2717 c.2370A>G c.(2368-2370)ttA>ttG p.L790L DIAPH2_ENST00000355827.4_Silent_p.L790L|DIAPH2_ENST00000373049.4_Silent_p.L790L|DIAPH2_ENST00000373054.4_Silent_p.L786L|DIAPH2_ENST00000373061.3_Silent_p.L790L O60879 DIAP2_HUMAN diaphanous-related formin 2 790 FH2. cell differentiation|cytokinesis|multicellular organismal development|oogenesis cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus receptor binding|Rho GTPase binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 51 TGAAAATGTTACAGCCTCGTC 0.358000 15 1 0 0 1 0 0 PCDHB4 56131 broad.mit.edu 37 5 140502436 140502436 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:140502436G>A ENST00000194152.1 + 1 856 c.856G>A c.(856-858)Gaa>Aaa p.E286K NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 286 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGCATCAGATGAAATTAAACA 0.343000 23 85 0 0 1 0 0 ZNF711 7552 broad.mit.edu 37 X 84526394 84526394 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chrX:84526394G>A ENST00000360700.4 + 10 2870 c.1984G>A c.(1984-1986)Gat>Aat p.D662N ZNF711_ENST00000276123.3_Missense_Mutation_p.D616N|ZNF711_ENST00000395402.1_Missense_Mutation_p.D624N|ZNF711_ENST00000373165.3_Missense_Mutation_p.D616N|ZNF711_ENST00000542798.1_Missense_Mutation_p.D458N Q9Y462 ZN711_HUMAN zinc finger protein 711 616 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4) 28 CCATACTAAGGATTTTCCTCA 0.408000 12 5 0 0 1 0 0 FGF6 2251 broad.mit.edu 37 12 4553335 4553335 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:4553335G>A ENST00000228837.2 - 2 457 c.414C>T c.(412-414)ttC>ttT p.F138F NM_020996.1 NP_066276.2 P10767 FGF6_HUMAN fibroblast growth factor 6 138 angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation extracellular space growth factor activity p.F138F(1) NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229) TCATGGCAACGAAGAGGGCAC 0.517000 19 12 0 0 1 0 0 PPP2R2C 5522 broad.mit.edu 37 4 6335388 6335388 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr4:6335388C>T ENST00000335585.5 - 7 884 c.861G>A c.(859-861)gtG>gtA p.V287V PPP2R2C_ENST00000382599.4_Silent_p.V287V|PPP2R2C_ENST00000515571.1_Silent_p.V270V|PPP2R2C_ENST00000506140.1_Silent_p.V280V|PPP2R2C_ENST00000507294.1_Silent_p.V280V NM_181876.2 NP_870991.1 Q9Y2T4 2ABG_HUMAN protein phosphatase 2, regulatory subunit B, gamma 287 signal transduction protein phosphatase type 2A complex protein phosphatase type 2A regulator activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 28 GGCTGAACTTCACGTCGGACA 0.557000 OREG0016071 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 50 48 0 0 1 0 0 FSTL4 23105 broad.mit.edu 37 5 132535015 132535015 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:132535015G>A ENST00000265342.7 - 16 2550 c.2301C>T c.(2299-2301)tcC>tcT p.S767S CTB-49A3.2_ENST00000509051.1_RNA NM_015082.1 NP_055897.1 Q6MZW2 FSTL4_HUMAN follistatin-like 4 767 extracellular region calcium ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(142;0.244) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CCTTCCCCGTGGACAGCTCCA 0.592000 24 14 0 0 1 0 0 EZR 7430 broad.mit.edu 37 6 159206584 159206584 + Missense_Mutation SNP G G A rs11550707 TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:159206584G>A ENST00000367075.3 - 5 392 c.224C>T c.(223-225)cCc>cTc p.P75L EZR_ENST00000337147.7_Missense_Mutation_p.P75L|EZR_ENST00000392177.4_Missense_Mutation_p.P43L|EZR_ENST00000476189.1_5'UTR NM_001111077.1 NP_001104547.1 P15311 EZRI_HUMAN ezrin 75 FERM. actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane actin filament binding|cell adhesion molecule binding EZR/ROS1(4) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2) 15 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06) GAACTGGAGGGGATTCTCCTT 0.542000 T ROS1 NSCLC 20 55 0 0 1 0 0 CDH6 1004 broad.mit.edu 37 5 31294238 31294238 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:31294238G>A ENST00000265071.2 + 3 663 c.398G>A c.(397-399)aGa>aAa p.R133K CDH6_ENST00000514738.1_Missense_Mutation_p.R78K NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 133 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 GCTATAAACAGAAGGACAGGG 0.458000 40 121 0 0 1 0 0 PTBP2 58155 broad.mit.edu 37 1 97250670 97250670 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:97250670C>T ENST00000236228.6 + 8 846 c.764C>T c.(763-765)tCc>tTc p.S255F PTBP2_ENST00000394184.3_Missense_Mutation_p.S266F|PTBP2_ENST00000370198.1_Missense_Mutation_p.S255F|PTBP2_ENST00000370197.1_Missense_Mutation_p.S255F|PTBP2_ENST00000426398.2_Missense_Mutation_p.S255F|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000541987.1_Missense_Mutation_p.S224F NM_021190.2 NP_067013.1 Q9UKA9 PTBP2_HUMAN polypyrimidine tract binding protein 2 255 RRM 2. nucleotide binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1) 26 all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171) all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202) ATTGATTTTTCCAAACTTGTG 0.358000 41 14 0 0 1 0 0 CACNA2D4 93589 broad.mit.edu 37 12 1983779 1983779 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:1983779C>T ENST00000382722.5 - 18 2231 c.1869G>A c.(1867-1869)atG>atA p.M623I CACNA2D4_ENST00000539048.2_5'UTR|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.M623I|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.M598I|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.M559I|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.M559I NM_172364.4 NP_758952.4 Q7Z3S7 CA2D4_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 4 623 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 39 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) CCCCTTTATCCATCGGAACCT 0.488000 16 13 0 0 1 0 0 SLC13A1 6561 broad.mit.edu 37 7 122768941 122768941 + Missense_Mutation SNP C C T rs138989506 by1000genomes TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:122768941C>T ENST00000194130.2 - 10 1130 c.1091G>A c.(1090-1092)cGa>cAa p.R364Q SLC13A1_ENST00000539873.1_3'UTR NM_022444.3 NP_071889.2 Q9BZW2 S13A1_HUMAN solute carrier family 13 (sodium/sulfate symporter), member 1 364 integral to membrane|plasma membrane sodium:sulfate symporter activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 45 Succinic acid(DB00139) TCCGGGGTCTCGACTAAACCA 0.418000 13 20 0 0 1 0 0 ATAD3A 55210 broad.mit.edu 37 1 1455959 1455959 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:1455959C>T ENST00000378755.5 + 7 950 c.856C>T c.(856-858)Cgt>Tgt p.R286C ATAD3A_ENST00000378756.3_Missense_Mutation_p.R238C|ATAD3A_ENST00000536055.1_Missense_Mutation_p.R159C NM_018188.3 NP_060658.3 Q9NVI7 ATD3A_HUMAN ATPase family, AAA domain containing 3A 286 ATP binding|nucleoside-triphosphatase activity|protein binding endometrium(4)|kidney(6)|large_intestine(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 20 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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147) GGAAGGATTCCGTGCCTTTGT 0.587000 67 25 0 0 1 0 0 HDC 3067 broad.mit.edu 37 15 50535074 50535074 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr15:50535074C>T ENST00000267845.3 - 12 1774 c.1372G>A c.(1372-1374)Gat>Aat p.D458N HDC_ENST00000543581.1_Missense_Mutation_p.D425N NM_002112.3 NP_002103.2 P19113 DCHS_HUMAN histidine decarboxylase 458 catecholamine biosynthetic process|histidine metabolic process histidine decarboxylase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 all_lung(180;0.0138) all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05) L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114) AGGATGTCATCCCTAGTGGTA 0.507000 28 26 0 0 1 0 0 DLC1 10395 broad.mit.edu 37 8 13072164 13072164 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:13072164G>A ENST00000316609.5 - 6 1756 c.1468C>T c.(1468-1470)Cat>Tat p.H490Y DLC1_ENST00000276297.4_Intron|DLC1_ENST00000512044.2_Intron Q96QB1 RHG07_HUMAN deleted in liver cancer 1 0 SAM. actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 CCAGCAACATGGAAAAGCCTC 0.458000 21 85 0 0 1 0 0 COL19A1 1310 broad.mit.edu 37 6 70897925 70897925 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:70897925C>T ENST00000322773.4 + 47 3105 c.3003C>T c.(3001-3003)ggC>ggT p.G1001G COL19A1_ENST00000393344.1_Silent_p.G623G NM_001858.4 NP_001849.2 Q14993 COJA1_HUMAN collagen, type XIX, alpha 1 1001 Triple-helical region 5 (COL5). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 109 GCCCTCCAGGCTCTCCAGGCA 0.552000 9 35 0 0 1 0 0 ABCB5 340273 broad.mit.edu 37 7 20762706 20762706 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:20762706C>T ENST00000404938.2 + 21 3141 c.2489C>T c.(2488-2490)tCc>tTc p.S830F ABCB5_ENST00000258738.6_Missense_Mutation_p.S385F NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 385 regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 GTTATCATTTCCTTTATATAT 0.413000 37 57 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9069839 9069839 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:9069839C>T ENST00000397910.4 - 3 17810 c.17607G>A c.(17605-17607)ggG>ggA p.G5869G NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5871 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GTGAGATAGTCCCTATAGGAC 0.502000 52 66 0 0 1 0 0 RNF148 378925 broad.mit.edu 37 7 122342649 122342649 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:122342649G>A ENST00000434824.1 - 1 372 c.156C>T c.(154-156)atC>atT p.I52I CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000449022.2_Intron|RNF148_ENST00000447240.1_Intron NM_198085.1 NP_932351.1 Q8N7C7 RN148_HUMAN ring finger protein 148 52 integral to membrane zinc ion binding endometrium(2)|kidney(1)|large_intestine(6)|lung(7) 16 ATTCCGATGTGATCTCATTTC 0.448000 16 23 0 0 1 0 0 PCDHB10 56126 broad.mit.edu 37 5 140572443 140572443 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:140572443C>T ENST00000239446.4 + 1 502 c.318C>T c.(316-318)ttC>ttT p.F106F NM_018930.3 NP_061753.1 Q9UN67 PCDBA_HUMAN 106 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 76 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGCTGTATTTCCAAATTTTAA 0.448000 16 32 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26166140 26166140 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr22:26166140C>T ENST00000335473.7 + 5 1826 c.1576C>T c.(1576-1578)Ctt>Ttt p.L526F MYO18B_ENST00000407587.2_Missense_Mutation_p.L526F|MYO18B_ENST00000536101.1_Missense_Mutation_p.L526F NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 526 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 TGGATTTACTCTTGGTAAGTA 0.488000 32 36 0 0 1 0 0 ZDHHC13 54503 broad.mit.edu 37 11 19197496 19197496 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:19197496C>T ENST00000446113.2 + 17 1979 c.1858C>T c.(1858-1860)Cgc>Tgc p.R620C ZDHHC13_ENST00000399351.3_Missense_Mutation_p.R490C NM_019028.2 NP_061901.2 Q8IUH4 ZDH13_HUMAN zinc finger, DHHC-type containing 13 620 positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi-associated vesicle membrane|integral to membrane magnesium ion transmembrane transporter activity|palmitoyltransferase activity|signal transducer activity|zinc ion binding NS(1)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 6 GAAGGTTCTTCGCTCAGTATG 0.423000 42 96 0 0 1 0 0 ARHGEF37 389337 broad.mit.edu 37 5 148996174 148996174 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:148996174C>T ENST00000333677.6 + 5 666 c.503C>T c.(502-504)cCt>cTt p.P168L NM_001001669.2 NP_001001669.2 A1IGU5 ARH37_HUMAN Rho guanine nucleotide exchange factor (GEF) 37 168 DH. regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3) 17 CTGGTAATTCCTCTGCAGAGG 0.557000 9 29 0 0 1 0 0 CA5A 763 broad.mit.edu 37 16 87938468 87938468 + Missense_Mutation SNP T T A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr16:87938468T>A ENST00000309893.2 - 3 448 c.383A>T c.(382-384)cAa>cTa p.Q128L NM_001739.1 NP_001730.1 P35218 CAH5A_HUMAN carbonic anhydrase VA, mitochondrial 128 one-carbon metabolic process mitochondrial matrix carbonate dehydratase activity|zinc ion binding large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 16 BRCA - Breast invasive adenocarcinoma(80;0.0513) GAAGTGAAATTGCTTCAGTCT 0.532000 56 81 0 0 1 0 0 NRAP 4892 broad.mit.edu 37 10 115383374 115383374 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr10:115383374C>T ENST00000369358.4 - 23 2639 c.2395G>A c.(2395-2397)Gaa>Aaa p.E799K NRAP_ENST00000369360.3_Missense_Mutation_p.E764K|NRAP_ENST00000359988.3_Missense_Mutation_p.E791K|NRAP_ENST00000360478.3_Missense_Mutation_p.E756K Q86VF7 NRAP_HUMAN nebulin-related anchoring protein 791 fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) TTCTGGTTTTCCCAGCTGCTC 0.493000 43 31 0 0 1 0 0 ZNF264 9422 broad.mit.edu 37 19 57723252 57723252 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:57723252G>A ENST00000263095.6 + 4 1201 c.787G>A c.(787-789)Gag>Aag p.E263K ZNF264_ENST00000536056.1_Missense_Mutation_p.E263K NM_003417.4 NP_003408.1 O43296 ZN264_HUMAN zinc finger protein 264 263 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 27 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135) TGAGTGCATGGAGTGTGGAAA 0.498000 18 57 0 0 1 0 0 TBC1D15 64786 broad.mit.edu 37 12 72316974 72316974 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:72316974C>T ENST00000550746.1 + 18 2130 c.2066C>T c.(2065-2067)aCa>aTa p.T689I TBC1D15_ENST00000319106.8_Missense_Mutation_p.T680I|TBC1D15_ENST00000485960.2_Missense_Mutation_p.T672I|TBC1D15_ENST00000393309.3_Missense_Mutation_p.T443I NM_001146213.1|NM_022771.4 NP_001139685.2|NP_073608.4 Q8TC07 TBC15_HUMAN TBC1 domain family, member 15 689 protein binding|Rab GTPase activator activity NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 TGCAGATTAACACCTGCATGA 0.413000 28 60 0 0 1 0 0 ZNF512 84450 broad.mit.edu 37 2 27830724 27830724 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:27830724C>T ENST00000355467.4 + 10 1032 c.949C>T c.(949-951)Cca>Tca p.P317S ZNF512_ENST00000416005.2_Missense_Mutation_p.P288S|ZNF512_ENST00000413371.2_Missense_Mutation_p.P240S|ZNF512_ENST00000379717.1_Missense_Mutation_p.P316S|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000556601.1_Missense_Mutation_p.P186S Q96ME7 ZN512_HUMAN zinc finger protein 512 317 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Acute lymphoblastic leukemia(172;0.155) ATCCTTCTTTCCAGAGTCAGG 0.478000 6 27 0 0 1 0 0 HOMER2 9455 broad.mit.edu 37 15 83532943 83532943 + Silent SNP G G A rs11629943 TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr15:83532943G>A ENST00000304231.8 - 4 555 c.363C>T c.(361-363)atC>atT p.I121I HOMER2_ENST00000450735.2_Silent_p.I121I|HOMER2_ENST00000399166.2_Silent_p.I121I|HOMER2_ENST00000426485.1_Silent_p.I121I NM_199330.2 NP_955362.1 Q9NSB8 HOME2_HUMAN homer homolog 2 (Drosophila) 121 metabotropic glutamate receptor signaling pathway cell junction|cytoplasm|postsynaptic density|postsynaptic membrane cervix(1)|endometrium(2)|lung(6) 9 TTGAGGTCTCGATTTTCTCCT 0.418000 19 23 0 0 1 0 0 SUPT6H 6830 broad.mit.edu 37 17 27001622 27001622 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr17:27001622C>T ENST00000314616.6 + 4 619 c.336C>T c.(334-336)gtC>gtT p.V112V SUPT6H_ENST00000347486.4_Silent_p.V112V NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 112 Asp/Glu-rich. chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) GTGTCAAAGTCAAAAGAGGAG 0.468000 30 46 0 0 1 0 0 LCK 3932 broad.mit.edu 37 1 32745777 32745777 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:32745777G>A ENST00000333070.4 + 12 1483 c.1383G>A c.(1381-1383)acG>acA p.T461T LCK_ENST00000373564.3_Silent_p.T438T|LCK_ENST00000336890.5_Silent_p.T431T NM_001042771.1 NP_001036236.1 P06239 LCK_HUMAN lymphocyte-specific protein tyrosine kinase 431 Protein kinase. activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 37 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212) Dasatinib(DB01254) TCCTGCTGACGGAAATTGTCA 0.517000 T TRB@ T-ALL 40 22 0 0 1 0 0 OR51E2 81285 broad.mit.edu 37 11 4703589 4703589 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:4703589G>A ENST00000396950.3 - 2 592 c.353C>T c.(352-354)gCc>gTc p.A118V NM_030774.3 NP_110401.1 Q9H255 O51E2_HUMAN olfactory receptor, family 51, subfamily E, member 2 118 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3) 23 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2) ACGGTCAAAGGCCATGGCCAG 0.532000 23 28 0 0 1 0 0 ABCC11 85320 broad.mit.edu 37 16 48201559 48201559 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr16:48201559C>T ENST00000394747.1 - 28 4253 c.3904G>A c.(3904-3906)Gat>Aat p.D1302N ABCC11_ENST00000394748.1_Missense_Mutation_p.D1302N|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000356608.2_Missense_Mutation_p.D1302N|ABCC11_ENST00000353782.5_Missense_Mutation_p.D1264N NM_033151.3 NP_149163.2 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 11 1302 ABC transporter 2. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2) 83 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) GTGGCTTCATCGATAAGGATG 0.542000 54 83 0 0 1 0 0 OPCML 4978 broad.mit.edu 37 11 132812839 132812839 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:132812839C>T ENST00000331898.7 - 1 727 c.149G>A c.(148-150)gGg>gAg p.G50E OPCML_ENST00000524381.1_Missense_Mutation_p.G43E|OPCML_ENST00000529038.1_Intron|OPCML_ENST00000541867.1_Missense_Mutation_p.G50E|OPCML_ENST00000374778.4_Missense_Mutation_p.G9E NM_002545.3 NP_002536.1 Q14982 OPCM_HUMAN opioid binding protein/cell adhesion molecule-like 50 Ig-like C2-type 1. cell adhesion|neuron recognition anchored to membrane|integral to plasma membrane opioid receptor activity endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8) 47 all_hematologic(175;0.019) all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129) all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012) GGCGCTCTCCCCCTGCCGGAC 0.672000 33 71 0 0 1 0 0 THEG 51298 broad.mit.edu 37 19 372693 372693 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:372693G>A ENST00000342640.4 - 5 615 c.573C>T c.(571-573)tcC>tcT p.S191S THEG_ENST00000346878.2_Silent_p.S167S NM_016585.4 NP_057669.1 Q9P2T0 THEG_HUMAN theg spermatid protein 191 cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis nucleus protein binding NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1) 29 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCACGCGGCGGGACACCGCTA 0.552000 12 34 0 0 1 0 0 TMEM200A 114801 broad.mit.edu 37 6 130762664 130762664 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:130762664G>A ENST00000392429.1 + 2 3475 c.1097G>A c.(1096-1098)gGa>gAa p.G366E TMEM200A_ENST00000296978.3_Missense_Mutation_p.G366E|TMEM200A_ENST00000545622.1_Missense_Mutation_p.G366E NM_052913.2 NP_443145.1 Q86VY9 T200A_HUMAN transmembrane protein 200A 366 integral to membrane NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) ATGGCTCTCGGACCTGGGGCT 0.522000 13 40 0 0 1 0 0 RNF152 220441 broad.mit.edu 37 18 59483443 59483443 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr18:59483443G>A ENST00000312828.3 - 2 1353 c.254C>T c.(253-255)tCc>tTc p.S85F NM_173557.2 NP_775828.1 Q8N8N0 RN152_HUMAN ring finger protein 152 85 apoptosis|protein K48-linked ubiquitination integral to membrane|lysosomal membrane ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1) 17 Colorectal(73;0.186) GGTGTGTTCGGAAGTGTGTGG 0.647000 27 38 0 0 1 0 0 SCAF11 9169 broad.mit.edu 37 12 46321331 46321331 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:46321331G>A ENST00000465950.1 - 1 2417 c.1208C>T c.(1207-1209)cCt>cTt p.P403L SCAF11_ENST00000549162.1_Missense_Mutation_p.P526L|SCAF11_ENST00000369367.3_Missense_Mutation_p.P718L|SCAF11_ENST00000419565.2_Missense_Mutation_p.P718L Q99590 SCAFB_HUMAN SR-related CTD-associated factor 11 718 spliceosome assembly nucleus protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 69 ACACTCCATAGGTATCATTTC 0.363000 66 43 0 0 1 0 0 PSG8 440533 broad.mit.edu 37 19 43262158 43262158 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:43262158G>A ENST00000404209.4 - 3 801 c.705C>T c.(703-705)ctC>ctT p.L235L PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000401467.2_Intron|PSG8_ENST00000406636.3_Silent_p.L113L|PSG8_ENST00000306511.4_Silent_p.L235L NM_001130167.1 NP_001123639.1 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 235 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) ACTCACGGAGGAGATTCAGGG 0.522000 127 202 0 0 1 0 0 CDH6 1004 broad.mit.edu 37 5 31297434 31297434 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:31297434G>A ENST00000265071.2 + 4 827 c.562G>A c.(562-564)Gat>Aat p.D188N CDH6_ENST00000514738.1_Missense_Mutation_p.D133N NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 188 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding p.D188N(1) NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 GGATGCAGATGATCCAACATA 0.378000 30 68 0 0 1 0 0 PAN3 255967 broad.mit.edu 37 13 28862219 28862219 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr13:28862219C>T ENST00000399613.1 + 17 1946 c.1883C>T c.(1882-1884)cCc>cTc p.P628L PAN3_ENST00000282391.5_Missense_Mutation_p.P516L|PAN3_ENST00000380958.3_Missense_Mutation_p.P828L Q58A45 PAN3_HUMAN PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) 828 Interaction with PAN2.|Protein kinase. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening centrosome|cytosol ATP binding|protein kinase activity p.P628L(1) endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262) Colorectal(13;0.000334) all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174) GCAGGTGCTCCCTGGATTGAC 0.373000 25 27 0 0 1 0 0 NR5A2 2494 broad.mit.edu 37 1 200017300 200017300 + Splice_Site SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:200017300C>T ENST00000367362.3 + 5 710 c.463_splice c.e5-1 p.A155_splice NR5A2_ENST00000236914.3_Splice_Site_p.A109_splice|NR5A2_ENST00000544748.1_Splice_Site_p.A83_splice NM_001276464.1|NM_205860.1 NP_001263393.1|NP_995582.1 O00482 NR5A2_HUMAN nuclear receptor subfamily 5, group A, member 2 155 embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 31 Prostate(682;0.19) CCCCCAACAGCTGTAAGGGCC 0.473000 51 30 0 0 1 0 0 CD33 945 broad.mit.edu 37 19 51729593 51729593 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:51729593C>T ENST00000436584.2 + 3 400 c.345C>T c.(343-345)atC>atT p.I115I CD33_ENST00000421133.2_Silent_p.I115I|CD33_ENST00000262262.4_Silent_p.I242I|CD33_ENST00000391796.3_Silent_p.I242I P20138 CD33_HUMAN CD33 molecule 242 Ig-like V-type. cell adhesion|cell-cell signaling|negative regulation of cell proliferation external side of plasma membrane|integral to plasma membrane receptor activity|sugar binding NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1) 24 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468) Gemtuzumab ozogamicin(DB00056) CAACTGGTATCTTTCCAGGAG 0.507000 9 37 0 0 1 0 0 BRD9 65980 broad.mit.edu 37 5 889719 889719 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:889719G>A ENST00000483173.1 - 4 429 c.290C>T c.(289-291)tCc>tTc p.S97F BRD9_ENST00000388890.4_Silent_p.F32F|BRD9_ENST00000323510.4_Silent_p.F32F|BRD9_ENST00000435709.2_Silent_p.F32F|BRD9_ENST00000467963.1_Silent_p.F148F NM_001009877.2 NP_001009877.2 Q9H8M2 BRD9_HUMAN bromodomain containing 9 144 nucleic acid binding breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3) 29 Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185) GCTGGCGGAGGAAGTGTTCCA 0.478000 27 55 0 0 1 0 0 AMER1 139285 broad.mit.edu 37 X 63410327 63410327 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chrX:63410327G>A ENST00000330258.3 - 2 3112 c.2840C>T c.(2839-2841)tCc>tTc p.S947F AMER1_ENST00000403336.1_Intron|AMER1_ENST00000374869.3_Intron NM_152424.3 NP_689637.3 APC membrane recruitment protein 1 p.0?(67) AGTATAGAGGGAAAGGGGACT 0.587000 14 7 0 0 1 0 0 CHD6 84181 broad.mit.edu 37 20 40052233 40052233 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr20:40052233G>A ENST00000373233.3 - 30 4631 c.4454C>T c.(4453-4455)tCc>tTc p.S1485F NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 1485 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) GTCCAAACGGGAAATGATGCG 0.443000 87 140 0 0 1 0 0 SLC4A5 57835 broad.mit.edu 37 2 74477521 74477521 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:74477521G>A ENST00000394019.2 - 17 1999 c.1602C>T c.(1600-1602)acC>acT p.T534T SLC4A5_ENST00000346834.4_Silent_p.T534T|SLC4A5_ENST00000359484.4_Silent_p.T470T|SLC4A5_ENST00000377632.1_Silent_p.T534T|SLC4A5_ENST00000377634.4_Silent_p.T534T|SLC4A5_ENST00000358683.4_Silent_p.T470T|SLC4A5_ENST00000423644.1_Silent_p.T534T|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000357822.5_Silent_p.T534T|RP11-287D1.3_ENST00000451608.2_3'UTR NM_133478.2 NP_597812.1 Q9BY07 S4A5_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 5 534 apical plasma membrane|integral to membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 TGATCGCGTTGGTGATACAGC 0.522000 OREG0014716 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 117 0 0 1 0 0 MYO1F 4542 broad.mit.edu 37 19 8609287 8609287 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:8609287C>T ENST00000338257.8 - 14 1685 c.1418G>A c.(1417-1419)gGg>gAg p.G473E NM_012335.3 NP_036467.2 O00160 MYO1F_HUMAN myosin IF 473 Myosin head-like. unconventional myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1) 42 GTCTGCTCCCCCGCCCGTGGC 0.667000 28 30 0 0 1 0 0 GON4L 54856 broad.mit.edu 37 1 155735953 155735953 + Missense_Mutation SNP G G A rs138268831 TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:155735953G>A ENST00000437809.1 - 21 3433 c.3311C>T c.(3310-3312)tCc>tTc p.S1104F GON4L_ENST00000271883.5_Missense_Mutation_p.S1104F|GON4L_ENST00000361040.5_Missense_Mutation_p.S1104F|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000368331.1_Missense_Mutation_p.S1104F Q3T8J9 GON4L_HUMAN gon-4-like (C. elegans) 1104 regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 45 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) AGGGGCAAGGGAGGGCAGCAT 0.562000 89 46 0 0 1 0 0 LOC101927079 101927079 broad.mit.edu 37 15 22332609 22332609 + RNA SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr15:22332609C>T ENST00000558896.1 + 0 416 TAGGTCATCTCTCTTTCATTG 0.443000 12 76 0 0 1 0 0 CNGA1 1259 broad.mit.edu 37 4 47939364 47939364 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr4:47939364G>A ENST00000402813.3 - 10 1496 c.1354C>T c.(1354-1356)Cta>Tta p.L452L CNGA1_ENST00000358519.4_Silent_p.L383L|CNGA1_ENST00000420489.2_Silent_p.L383L|CNGA1_ENST00000514170.1_Silent_p.L383L|CNGA1_ENST00000544810.1_Silent_p.L383L P29973 CNGA1_HUMAN cyclic nucleotide gated channel alpha 1 383 response to stimulus|visual perception integral to plasma membrane cGMP binding|ion channel activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1) 28 ACTCCAATTAGGAAATCAACC 0.423000 37 125 0 0 1 0 0 MYO7A 4647 broad.mit.edu 37 11 76893104 76893104 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:76893104C>T ENST00000409709.3 + 24 3284 c.3012C>T c.(3010-3012)ttC>ttT p.F1004F MYO7A_ENST00000409619.2_Silent_p.F993F|MYO7A_ENST00000458637.2_Silent_p.F1004F|MYO7A_ENST00000409893.1_Silent_p.F1004F NM_000260.3 NP_000251.3 Q13402 MYO7A_HUMAN myosin VIIA 1004 actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 TTGCCAAGTTCGCGGCCACCT 0.607000 39 58 0 0 1 0 0 CDH6 1004 broad.mit.edu 37 5 31317540 31317540 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:31317540C>T ENST00000265071.2 + 10 1836 c.1571C>T c.(1570-1572)tCg>tTg p.S524L CDH6_ENST00000514738.1_Missense_Mutation_p.S469L NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 524 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 CACCAATTTTCGTTTTCCTTG 0.403000 12 62 0 0 1 0 0 SCG3 29106 broad.mit.edu 37 15 51988145 51988145 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr15:51988145G>A ENST00000220478.3 + 8 1345 c.942G>A c.(940-942)gtG>gtA p.V314V SCG3_ENST00000542355.2_Silent_p.V82V NM_013243.3 NP_037375.2 Q8WXD2 SCG3_HUMAN secretogranin III 314 platelet activation|platelet degranulation extracellular region|stored secretory granule breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all cancers(107;0.00488) AGATGATGGTGAAATATGGAA 0.313000 23 71 0 0 1 0 0 RPAP3 79657 broad.mit.edu 37 12 48062756 48062756 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:48062756G>A ENST00000005386.3 - 14 1771 c.1656C>T c.(1654-1656)ctC>ctT p.L552L RPAP3_ENST00000432584.3_Silent_p.L393L|RPAP3_ENST00000380650.4_Silent_p.L518L NM_024604.2 NP_078880.2 Q9H6T3 RPAP3_HUMAN RNA polymerase II associated protein 3 552 binding endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 Lung SC(27;0.192) AATCAGATTCGAGCTGGAACG 0.398000 31 29 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141731546 141731546 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:141731546G>A ENST00000475668.2 + 13 1591 c.1537G>A c.(1537-1539)Gaa>Aaa p.E513K MGAM_ENST00000549489.2_Missense_Mutation_p.E513K O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 513 Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity p.E513*(2) cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) GTGGACAAAGGAATTTGAGCT 0.368000 25 51 0 0 1 0 0 CCHCR1 54535 broad.mit.edu 37 6 31117976 31117976 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:31117976G>A ENST00000396268.3 - 8 1417 c.1229C>T c.(1228-1230)tCc>tTc p.S410F CCHCR1_ENST00000480060.1_Intron|CCHCR1_ENST00000376266.5_Missense_Mutation_p.S321F|CCHCR1_ENST00000451521.2_Missense_Mutation_p.S374F|CCHCR1_ENST00000396263.2_Missense_Mutation_p.S321F NM_001105563.1|NM_001105564.1 NP_001099033.1|NP_001099034.1 Q8TD31 CCHCR_HUMAN coiled-coil alpha-helical rod protein 1 321 cell differentiation|multicellular organismal development cytoplasm|nucleus protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1) 23 AGGCTCCAGGGAATCTGAAGG 0.572000 12 28 0 0 1 0 0 NUP210 23225 broad.mit.edu 37 3 13361447 13361447 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:13361447G>A ENST00000254508.5 - 37 5281 c.5199C>T c.(5197-5199)ttC>ttT p.F1733F NM_024923.2 NP_079199.2 Q8TEM1 PO210_HUMAN nucleoporin 210kDa 1733 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_neural(104;0.187) TCTCCTTTGCGAATGCCAGCA 0.627000 30 50 0 0 1 0 0 CYFIP2 26999 broad.mit.edu 37 5 156742036 156742036 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:156742036C>T ENST00000347377.6 + 13 1721 c.1290C>T c.(1288-1290)acC>acT p.T430T CYFIP2_ENST00000522463.1_Silent_p.T234T|CYFIP2_ENST00000521420.1_Silent_p.T404T|CYFIP2_ENST00000435847.2_Silent_p.T104T|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000541131.1_Silent_p.T355T|CYFIP2_ENST00000377576.3_Silent_p.T430T|CYFIP2_ENST00000318218.6_Silent_p.T430T NM_001037332.2 NP_001032409.2 Q96F07 CYFP2_HUMAN cytoplasmic FMR1 interacting protein 2 430 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding breast(1)|endometrium(12)|kidney(2)|lung(23) 38 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GTCCTGGCACCGCGGAGGAAT 0.522000 9 7 0 0 1 0 0 ZNF221 7638 broad.mit.edu 37 19 44471168 44471168 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:44471168C>T ENST00000251269.5 + 6 1842 c.1514C>T c.(1513-1515)cCt>cTt p.P505L ZNF221_ENST00000587682.1_Missense_Mutation_p.P505L|ZNF221_ENST00000592350.1_Missense_Mutation_p.P505L NM_013359.2 NP_037491.2 Q9UK13 ZN221_HUMAN zinc finger protein 221 505 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 Prostate(69;0.0352) GGGGAAAAACCTTTCAAATGT 0.443000 21 32 0 0 1 0 0 C7orf63 79846 broad.mit.edu 37 7 89929369 89929369 + Silent SNP C C A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:89929369C>A ENST00000389297.4 + 17 2297 c.2046C>A c.(2044-2046)atC>atA p.I682I C7orf63_ENST00000316089.8_Silent_p.I682I|C7orf63_ENST00000497910.1_Silent_p.I664I NM_001039706.2|NM_001160138.1 NP_001034795.2|NP_001153610.1 A5D8W1 CG063_HUMAN chromosome 7 open reading frame 63 682 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3) 37 ATGGGAAGATCATTGGTGAGT 0.328000 5 17 1.024e-07 1.02941e-07 1 1 0 ACE 1636 broad.mit.edu 37 17 61562259 61562259 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr17:61562259C>T ENST00000577647.1 + 1 76 c.31C>T c.(31-33)Ccc>Tcc p.P11S ACE_ENST00000290863.6_Missense_Mutation_p.P11S|ACE_ENST00000290866.4_Intron|ACE_ENST00000413513.3_Missense_Mutation_p.P11S|ACE_ENST00000490216.2_Missense_Mutation_p.P11S|ACE_ENST00000421982.2_5'UTR|ACE_ENST00000428043.1_Intron P12821 ACE_HUMAN angiotensin I converting enzyme 0 arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) TGCAGGACTTCCCAGCCTCCT 0.642000 3 3 0 0 1 0 0 SMG1 23049 broad.mit.edu 37 16 18845580 18845580 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr16:18845580G>A ENST00000446231.2 - 50 8923 c.8511C>T c.(8509-8511)ccC>ccT p.P2837P SMG1_ENST00000389467.3_Silent_p.P2837P Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 2837 DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 ACGCTTCCATGGGGTTCGGGA 0.438000 6 9 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179482566 179482566 + Nonsense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:179482566G>A ENST00000589042.1 - 253 47736 c.47512C>T c.(47512-47514)Cga>Tga p.R15838* TTN_ENST00000342992.6_Nonsense_Mutation_p.R13270*|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.R14197*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.R6773*|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.R6965*|TTN_ENST00000359218.5_Nonsense_Mutation_p.R6898*|TTN-AS1_ENST00000456053.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 14197 Fibronectin type-III 15. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.R6965*(1)|p.R6773*(1)|p.R13270*(1)|p.R6898*(1) 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) ACTCCAATTCGATTTTGGGCT 0.453000 40 69 0 0 1 0 0 ZNF711 7552 broad.mit.edu 37 X 84526827 84526827 + Missense_Mutation SNP T T C TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chrX:84526827T>C ENST00000360700.4 + 10 3303 c.2417T>C c.(2416-2418)cTt>cCt p.L806P ZNF711_ENST00000276123.3_Missense_Mutation_p.L760P|ZNF711_ENST00000395402.1_Missense_Mutation_p.L768P|ZNF711_ENST00000373165.3_Missense_Mutation_p.L760P|ZNF711_ENST00000542798.1_Missense_Mutation_p.L602P Q9Y462 ZN711_HUMAN zinc finger protein 711 760 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4) 28 AAAGAGGCTCTTATGTAATAA 0.378000 9 11 0 0 1 0 0 EXOC2 55770 broad.mit.edu 37 6 549181 549181 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:549181G>A ENST00000230449.4 - 22 2367 c.2232C>T c.(2230-2232)atC>atT p.I744I EXOC2_ENST00000448181.3_Silent_p.I339I NM_018303.4 NP_060773.3 Q96KP1 EXOC2_HUMAN exocyst complex component 2 744 exocytosis|protein transport breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2) 46 Ovarian(93;0.0733) Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897) OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14) TTACCTGTGTGATTTTTTCTA 0.413000 40 124 0 0 1 0 0 NLRP10 338322 broad.mit.edu 37 11 7982099 7982099 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:7982099G>A ENST00000328600.2 - 2 1221 c.1060C>T c.(1060-1062)Cca>Tca p.P354S NM_176821.3 NP_789791.1 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 354 NACHT. ATP binding breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) CAAATGCCTGGAACCTGACAC 0.507000 29 40 0 0 1 0 0 TRAPPC11 60684 broad.mit.edu 37 4 184614882 184614882 + Missense_Mutation SNP T T C TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr4:184614882T>C ENST00000334690.6 + 21 2580 c.2378T>C c.(2377-2379)tTa>tCa p.L793S TRAPPC11_ENST00000357207.4_Missense_Mutation_p.L793S|TRAPPC11_ENST00000512476.1_Missense_Mutation_p.L399S NM_021942.5 NP_068761.4 Q7Z392 CD041_HUMAN trafficking protein particle complex 11 793 ACCGCTGGCTTAAAACCAGGT 0.393000 8 40 0 0 1 0 0 MROH1 727957 broad.mit.edu 37 8 145223308 145223308 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:145223308C>T ENST00000528919.1 + 3 254 c.133C>T c.(133-135)Cgt>Tgt p.R45C MROH1_ENST00000398656.4_Missense_Mutation_p.R45C|MROH1_ENST00000326134.5_Missense_Mutation_p.R45C|MROH1_ENST00000423230.2_Missense_Mutation_p.R45C|MROH1_ENST00000534366.1_Missense_Mutation_p.R45C NM_032450.2 NP_115826.2 maestro heat-like repeat family member 1 GGAGACGCTCCGTGCCTGCGA 0.632000 25 33 0 0 1 0 0 SLC40A1 30061 broad.mit.edu 37 2 190428502 190428502 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:190428502G>A ENST00000261024.2 - 7 1636 c.1210C>T c.(1210-1212)Cct>Tct p.P404S NM_014585.5 NP_055400.1 Q9NP59 S40A1_HUMAN solute carrier family 40 (iron-regulated transporter), member 1 404 anatomical structure morphogenesis|cellular iron ion homeostasis cytoplasm|integral to plasma membrane iron ion transmembrane transporter activity|protein binding endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491) TCTTCAAAAGGAGAAACGGAC 0.428000 31 43 0 0 1 0 0 MATN4 8785 broad.mit.edu 37 20 43929563 43929563 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr20:43929563C>T ENST00000537548.1 - 7 1220 c.976G>A c.(976-978)Ggg>Agg p.G326R MATN4_ENST00000372753.1_Missense_Mutation_p.G177R|MATN4_ENST00000372754.1_Missense_Mutation_p.G367R|MATN4_ENST00000372756.1_Missense_Mutation_p.G326R|MATN4_ENST00000342716.4_Missense_Mutation_p.G326R|MATN4_ENST00000360607.5_Missense_Mutation_p.G285R|MATN4_ENST00000372751.4_Missense_Mutation_p.G177R|MATN4_ENST00000353917.5_Missense_Mutation_p.G244R O95460 MATN4_HUMAN matrilin 4 367 EGF-like 3. extracellular region protein binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 Myeloproliferative disorder(115;0.0122) AGTTGCCGCCCCTCGGGGCAC 0.607000 7 44 0 0 1 0 0 TRIM58 25893 broad.mit.edu 37 1 248028152 248028152 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:248028152G>A ENST00000366481.3 + 3 710 c.662G>A c.(661-663)cGg>cAg p.R221Q NM_015431.3 NP_056246.3 Q8NG06 TRI58_HUMAN tripartite motif containing 58 221 intracellular zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1) 63 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) AGCAAGAGCCGGCTGGTCCAG 0.692000 7 16 0 0 1 0 0 SNX14 57231 broad.mit.edu 37 6 86257040 86257040 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:86257040G>A ENST00000314673.3 - 11 1164 c.988C>T c.(988-990)Cca>Tca p.P330S SNX14_ENST00000513865.1_Missense_Mutation_p.P330S|SNX14_ENST00000346348.3_Missense_Mutation_p.P286S|SNX14_ENST00000369627.2_Missense_Mutation_p.P330S|SNX14_ENST00000505648.1_Missense_Mutation_p.P278S|SNX14_ENST00000508980.1_5'UTR NM_153816.3 NP_722523.1 Q9Y5W7 SNX14_HUMAN sorting nexin 14 330 cell communication|protein transport integral to membrane phosphatidylinositol binding|signal transducer activity NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1) 22 all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24) BRCA - Breast invasive adenocarcinoma(108;0.0423) CTTACAGATGGCTTTTTATTT 0.313000 18 16 0 0 1 0 0 WDR93 56964 broad.mit.edu 37 15 90280911 90280911 + Nonsense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr15:90280911G>A ENST00000268130.7 + 15 1817 c.1716G>A c.(1714-1716)tgG>tgA p.W572* WDR93_ENST00000444934.2_Nonsense_Mutation_p.W289*|WDR93_ENST00000560294.1_Nonsense_Mutation_p.W544* NM_020212.1 NP_064597.1 Q6P2C0 WDR93_HUMAN WD repeat domain 93 572 electron transport chain mitochondrial inner membrane oxidoreductase activity, acting on NADH or NADPH NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 33 Lung NSC(78;0.0237)|all_lung(78;0.0478) KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128) AGGTCCCCTGGAAGCCAGTGT 0.542000 31 23 0 0 1 0 0 AKAP13 11214 broad.mit.edu 37 15 86261363 86261363 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr15:86261363G>A ENST00000394518.2 + 22 6069 c.5974G>A c.(5974-5976)Gtg>Atg p.V1992M AKAP13_ENST00000361243.2_Missense_Mutation_p.V1996M|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000394510.2_Missense_Mutation_p.V237M NM_001270546.1|NM_007200.3 NP_001257475.1|NP_009131.2 Q12802 AKP13_HUMAN A kinase (PRKA) anchor protein 13 1992 Interaction with ESR1. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 98 AAAGAAAGATGTGGTCAAACG 0.378000 10 46 0 0 1 0 0 CTIF 9811 broad.mit.edu 37 18 46287844 46287844 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr18:46287844C>T ENST00000256413.3 + 9 1450 c.1155C>T c.(1153-1155)aaC>aaT p.N385N CTIF_ENST00000382998.4_Silent_p.N387N NM_014772.2 NP_055587.1 O43310 CTIF_HUMAN CBP80/20-dependent translation initiation factor 385 MIF4G. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation perinuclear region of cytoplasm protein binding breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 31 TGCGGAACAACAGCAGCGACG 0.587000 25 48 0 0 1 0 0 PCDHB2 56133 broad.mit.edu 37 5 140474669 140474669 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:140474669G>A ENST00000194155.4 + 1 443 c.295G>A c.(295-297)Ggc>Agc p.G99S NM_018936.2 NP_061759.1 Q9Y5E7 PCDB2_HUMAN 99 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGAGCTGTGCGGCCCCACAGA 0.488000 12 58 0 0 1 0 0 CAPN13 92291 broad.mit.edu 37 2 30977214 30977214 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:30977214C>T ENST00000295055.8 - 9 1059 c.883G>A c.(883-885)Gaa>Aaa p.E295K CAPN13_ENST00000534090.2_Missense_Mutation_p.E295K NM_144575.2 NP_653176.2 Q6MZZ7 CAN13_HUMAN calpain 13 295 Calpain catalytic. proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1) 30 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155) TCACAGGTTTCCTCCCACTCC 0.448000 3 15 0 0 1 0 0 SIRPB1 10326 broad.mit.edu 37 20 1585397 1585397 + Missense_Mutation SNP T T C rs148754551 by1000genomes TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr20:1585397T>C ENST00000279477.7 - 3 806 c.742A>G c.(742-744)Acc>Gcc p.T248A SIRPB1_ENST00000381605.4_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381603.3_Intron NM_001135844.2 NP_001129316.1 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 248 cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding p.T248A(5) central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 CCTCGGATGGTCTCAGACAAG 0.627000 5 39 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 2806844 2806844 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:2806844C>T ENST00000602557.1 - 69 10937 c.10382G>A c.(10381-10383)gGa>gAa p.G3461E CSMD1_ENST00000602723.1_Missense_Mutation_p.G3284E|CSMD1_ENST00000520002.1_Missense_Mutation_p.G3461E|CSMD1_ENST00000542608.1_Missense_Mutation_p.G3283E|CSMD1_ENST00000400186.3_Missense_Mutation_p.G3284E|CSMD1_ENST00000537824.1_Missense_Mutation_p.G3460E Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 3461 integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CTTAAATTTTCCAAAGTCTTT 0.328000 7 14 0 0 1 0 0 KEL 3792 broad.mit.edu 37 7 142643326 142643326 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:142643326G>A ENST00000355265.2 - 11 1756 c.1282C>T c.(1282-1284)Cgt>Tgt p.R428C KEL_ENST00000479768.2_5'UTR NM_000420.2 NP_000411.1 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 428 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) AAGGCCTCACGAACAAACAAA 0.592000 10 25 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105406981 105406981 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr14:105406981G>A ENST00000333244.5 - 7 14926 c.14807C>T c.(14806-14808)cCt>cTt p.P4936L AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 4936 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GGCTTCTCCAGGGGCCACTAC 0.562000 30 8 0 0 1 0 0 KLHL13 90293 broad.mit.edu 37 X 117035816 117035816 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chrX:117035816C>T ENST00000371876.1 - 5 3728 c.1307G>A c.(1306-1308)gGa>gAa p.G436E KLHL13_ENST00000262820.3_Missense_Mutation_p.G487E|KLHL13_ENST00000371878.1_Missense_Mutation_p.G436E|KLHL13_ENST00000539496.1_Missense_Mutation_p.G490E|KLHL13_ENST00000469946.1_Missense_Mutation_p.G436E|KLHL13_ENST00000545703.1_Missense_Mutation_p.G445E|KLHL13_ENST00000541812.1_Missense_Mutation_p.G471E|KLHL13_ENST00000540167.1_Missense_Mutation_p.G471E|KLHL13_ENST00000371882.1_Missense_Mutation_p.G436E Q9P2N7 KLH13_HUMAN kelch-like family member 13 487 cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 CATCACTCCTCCATACACAGT 0.353000 31 8 0 0 1 0 0 ACTR3B 57180 broad.mit.edu 37 7 152497641 152497641 + Missense_Mutation SNP G G T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:152497641G>T ENST00000256001.8 + 3 260 c.126G>T c.(124-126)aaG>aaT p.K42N ACTR3B_ENST00000537264.1_Intron|ACTR3B_ENST00000377776.3_Missense_Mutation_p.K42N|ACTR3B_ENST00000397282.2_5'UTR NM_020445.5 NP_065178.1 Q9P1U1 ARP3B_HUMAN ARP3 actin-related protein 3 homolog B (yeast) 42 regulation of actin filament polymerization cell projection|cytoplasm|cytoskeleton actin binding|ATP binding breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1) 13 all_hematologic(28;0.0592)|Prostate(32;0.191) OV - Ovarian serous cystadenocarcinoma(82;0.0287) UCEC - Uterine corpus endometrioid carcinoma (81;0.0434) AGTCAGCAAAGGTAGTTGACC 0.378000 12 65 1.5842e-08 1.59537e-08 1 1 0 PLCG2 5336 broad.mit.edu 37 16 81965259 81965259 + Splice_Site SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr16:81965259G>A ENST00000359376.3 + 25 2953 c.2739_splice c.e25+1 p.K913_splice NM_002661.3 NP_002652.2 P16885 PLCG2_HUMAN phospholipase C, gamma 2 (phosphatidylinositol-specific) 913 intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 58 TTGACACCAAGGTAGGCACCT 0.602000 32 60 0 0 1 0 0 SYNGAP1 8831 broad.mit.edu 37 6 33391261 33391261 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:33391261G>A ENST00000418600.2 + 2 176 c.75G>A c.(73-75)cgG>cgA p.R25R SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Silent_p.R25R NM_006772.2 NP_006763.2 Q96PV0 SYGP1_HUMAN synaptic Ras GTPase activating protein 1 25 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity|SH3 domain binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1) 43 CAGATGTACGGGGACCCTCTA 0.522000 61 112 0 0 1 0 0 LAMP5 24141 broad.mit.edu 37 20 9496162 9496162 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr20:9496162C>T ENST00000246070.2 + 2 619 c.127C>T c.(127-129)Cct>Tct p.P43S LAMP5_ENST00000427562.2_Missense_Mutation_p.P43S NM_012261.3 NP_036393.1 Q9UJQ1 CT103_HUMAN lysosomal-associated membrane protein family, member 5 43 integral to membrane TTCCACTAACCCTGAAAAAGA 0.438000 22 50 0 0 1 0 0 SLC35G5 83650 broad.mit.edu 37 8 11188832 11188832 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:11188832C>T ENST00000382435.4 + 1 436 c.217C>T c.(217-219)Ctc>Ttc p.L73F NM_054028.1 NP_473369.1 Q96KT7 AMCL2_HUMAN solute carrier family 35, member G5 73 DUF6 1. integral to membrane GCTGGAGCTGCTCATCTGTCG 0.637000 82 145 0 0 1 0 0 PZP 5858 broad.mit.edu 37 12 9309930 9309930 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:9309930G>A ENST00000261336.2 - 28 3419 c.3391C>T c.(3391-3393)Ctg>Ttg p.L1131L PZP_ENST00000381997.2_Silent_p.L917L NM_002864.2 NP_002855.2 pregnancy-zone protein breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5) 102 AGGCAGAACAGGGCATTGCGA 0.507000 21 31 0 0 1 0 0 WFDC13 164237 broad.mit.edu 37 20 44333185 44333185 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr20:44333185C>T ENST00000305479.2 + 2 299 c.191C>T c.(190-192)tCc>tTc p.S64F WFDC10B_ENST00000330523.5_5'UTR|WFDC10B_ENST00000335769.2_Silent_p.R30R NM_172005.1 NP_742002.1 Q8IUB5 WFD13_HUMAN WAP four-disulfide core domain 13 64 extracellular region peptidase inhibitor activity skin(1)|upper_aerodigestive_tract(1) 2 Myeloproliferative disorder(115;0.0122) TGCTGTTCCTCCTTCTGTGGG 0.463000 25 83 0 0 1 0 0 SLC5A8 160728 broad.mit.edu 37 12 101577952 101577952 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:101577952G>A ENST00000536262.2 - 8 1570 c.1012C>T c.(1012-1014)Cct>Tct p.P338S NM_145913.3 NP_666018.3 Q8N695 SC5A8_HUMAN solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8 338 apoptosis|sodium ion transport apical plasma membrane|integral to membrane monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 AAAAGTCCAGGAAGTCCTGGA 0.348000 20 9 0 0 1 0 0 MTUS2 23281 broad.mit.edu 37 13 29598914 29598914 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr13:29598914G>A ENST00000431530.3 + 1 167 c.109G>A c.(109-111)Gaa>Aaa p.E37K NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 27 cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 AAATAATAATGAAAGCATCTT 0.458000 17 53 0 0 1 0 0 TOX2 84969 broad.mit.edu 37 20 42694456 42694456 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr20:42694456C>T ENST00000358131.5 + 6 1219 c.1011C>T c.(1009-1011)ttC>ttT p.F337F TOX2_ENST00000372999.1_Silent_p.F313F|TOX2_ENST00000341197.3_Silent_p.F355F|TOX2_ENST00000435864.2_Silent_p.F233F|TOX2_ENST00000423191.1_Silent_p.F313F NM_001098798.1 NP_001092268.1 Q96NM4 TOX2_HUMAN TOX high mobility group box family member 2 337 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2) 26 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.00189) TGGCCTCCTTCCTGACGCCGT 0.657000 70 176 0 0 1 0 0 PAM 5066 broad.mit.edu 37 5 102285616 102285616 + Silent SNP A A G TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:102285616A>G ENST00000438793.3 + 10 1205 c.735A>G c.(733-735)gtA>gtG p.V245V PAM_ENST00000348126.2_Silent_p.V245V|PAM_ENST00000304400.7_Silent_p.V245V|PAM_ENST00000379787.4_5'UTR|PAM_ENST00000274392.9_Silent_p.V148V|PAM_ENST00000455264.2_Silent_p.V245V|PAM_ENST00000346918.2_Silent_p.V245V NM_000919.3|NM_001177306.1|NM_138766.2 NP_000910.2|NP_001170777.1|NP_620121.1 P19021 AMD_HUMAN peptidylglycine alpha-amidating monooxygenase 245 Peptidylglycine alpha-hydroxylating monooxygenase (By similarity). peptide metabolic process|protein modification process extracellular region|integral to membrane|stored secretory granule L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 25 all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284) Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127) Vitamin C(DB00126) GTAAGGTAGTAAGTGGATACA 0.333000 12 16 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141459861 141459861 + Splice_Site SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:141459861C>T ENST00000389484.3 - 39 7122 c.6150_splice c.e39-1 p.E2051_splice NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 2051 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) AATTTATTTTCCTAAATATCG 0.353000 TSP Lung(27;0.18) 16 79 0 0 1 0 0 TSIX 9383 broad.mit.edu 37 X 73046489 73046489 + RNA SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chrX:73046489G>A ENST00000604411.1 + 0 34450 XIST_ENST00000429829.1_lincRNA NR_003255.2 TCTCATCTTGGGATTTCCCCA 0.443000 77 21 0 0 1 0 0 DDX52 11056 broad.mit.edu 37 17 35978400 35978400 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr17:35978400G>A ENST00000349699.2 - 14 1722 c.1679C>T c.(1678-1680)cCa>cTa p.P560L DDX52_ENST00000394367.3_Missense_Mutation_p.P452L NM_007010.3 NP_008941.2 Q9Y2R4 DDX52_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 52 560 Lys-rich. nucleolus ATP binding|ATP-dependent helicase activity|RNA binding biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3) 17 Breast(25;0.00637)|Ovarian(249;0.15) CCTTTCCAATGGTTTCTTAAT 0.303000 7 17 0 0 1 0 0 NR2F2 7026 broad.mit.edu 37 15 96877562 96877562 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr15:96877562C>T ENST00000394166.3 + 2 2089 c.700C>T c.(700-702)Ccc>Tcc p.P234S NR2F2_ENST00000453270.2_Missense_Mutation_p.P81S|NR2F2_ENST00000421109.2_Missense_Mutation_p.P101S|NR2F2_ENST00000394171.2_Missense_Mutation_p.P81S NM_021005.3 NP_066285.1 P24468 COT2_HUMAN nuclear receptor subfamily 2, group F, member 2 234 Interaction with ZFPM2 (By similarity).|Ligand-binding (By similarity). lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment nucleus ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1) 17 Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297) OV - Ovarian serous cystadenocarcinoma(32;0.0856) CCCCTTCTTCCCCGACCTGCA 0.617000 52 74 0 0 1 0 0 TSHZ2 128553 broad.mit.edu 37 20 51870756 51870756 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr20:51870756G>A ENST00000371497.5 + 2 1646 c.759G>A c.(757-759)acG>acA p.T253T TSHZ2_ENST00000603338.2_Silent_p.T250T|TSHZ2_ENST00000329613.6_Silent_p.T250T NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 253 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) TCAGACCCACGAGCTATTCAA 0.493000 9 41 0 0 1 0 0 LOXL1 4016 broad.mit.edu 37 15 74219703 74219703 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr15:74219703C>T ENST00000261921.7 + 1 905 c.579C>T c.(577-579)ccC>ccT p.P193P LOXL1-AS1_ENST00000565756.1_RNA|LOXL1-AS1_ENST00000565416.1_RNA|LOXL1-AS1_ENST00000562965.1_RNA|LOXL1-AS1_ENST00000564963.1_RNA|LOXL1-AS1_ENST00000564194.1_RNA|LOXL1-AS1_ENST00000567257.1_RNA|LOXL1-AS1_ENST00000566675.1_RNA|LOXL1-AS1_ENST00000562739.1_RNA|LOXL1-AS1_ENST00000568087.1_RNA NM_005576.2 NP_005567.2 Q08397 LOXL1_HUMAN lysyl oxidase-like 1 193 protein deamination extracellular space copper ion binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 ACTACGACCCCGCGTCGCGGA 0.726000 30 34 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40384076 40384076 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:40384076G>A ENST00000221347.6 - 21 9541 c.9534C>T c.(9532-9534)gcC>gcT p.A3178A NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 3178 TIL 7. 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) CCTCACATACGGCTGGCGTCG 0.647000 45 170 0 0 1 0 0 TECRL 253017 broad.mit.edu 37 4 65274988 65274988 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr4:65274988C>T ENST00000381210.3 - 1 192 c.82G>A c.(82-84)Gat>Aat p.D28N TECRL_ENST00000507440.1_Missense_Mutation_p.D28N NM_001010874.4 NP_001010874.2 Q5HYJ1 TECRL_HUMAN trans-2,3-enoyl-CoA reductase-like 28 lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1) 47 CTCATATCATCCTTCAGTATG 0.433000 19 60 0 0 1 0 0 FBLN7 129804 broad.mit.edu 37 2 112944801 112944801 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:112944801C>T ENST00000331203.2 + 8 1309 c.1038C>T c.(1036-1038)tcC>tcT p.S346S FBLN7_ENST00000409667.3_Silent_p.S212S|FBLN7_ENST00000409450.3_Silent_p.S300S|FBLN7_ENST00000409903.1_Intron NM_001128165.1|NM_153214.2 NP_001121637.1|NP_694946.2 Q53RD9 FBLN7_HUMAN fibulin 7 346 cell adhesion proteinaceous extracellular matrix calcium ion binding|heparin binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 CTCTGCCTTCCAACCTGAAGA 0.647000 62 80 0 0 1 0 0 GIMAP6 474344 broad.mit.edu 37 7 150325184 150325184 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:150325184G>A ENST00000328902.5 - 3 718 c.502C>T c.(502-504)Ctg>Ttg p.L168L GIMAP6_ENST00000493969.1_3'UTR NM_001244072.1|NM_024711.5 NP_001231001.1|NP_078987.3 Q6P9H5 GIMA6_HUMAN GTPase, IMAP family member 6 168 GTP binding endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CCGCCAGCCAGGTCTTCCTTC 0.607000 101 164 0 0 1 0 0 PCDHA8 56140 broad.mit.edu 37 5 140221648 140221648 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:140221648G>A ENST00000531613.1 + 1 742 c.742G>A c.(742-744)Gaa>Aaa p.E248K PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.E248K|PCDHA4_ENST00000530339.1_Intron NM_018911.2 NP_061734.1 NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTCTGAATACGAAGTAAGAAT 0.453000 18 31 0 0 1 0 0 HTR4 3360 broad.mit.edu 37 5 147928281 147928281 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:147928281G>A ENST00000360693.3 - 4 441 c.303C>T c.(301-303)gtC>gtT p.V101V HTR4_ENST00000314512.6_Silent_p.V101V|HTR4_ENST00000354217.2_Silent_p.V101V|HTR4_ENST00000520514.1_Silent_p.V101V|HTR4_ENST00000517929.1_Silent_p.V101V|HTR4_ENST00000521530.1_Silent_p.V101V|HTR4_ENST00000362016.2_Silent_p.V101V|HTR4_ENST00000377888.3_Silent_p.V101V|HTR4_ENST00000521735.1_Silent_p.V101V NM_001040173.2 NP_001035263.1 Q13639 5HT4R_HUMAN 5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled 101 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation endosome|integral to plasma membrane|membrane fraction serotonin receptor activity endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315) TTGTGAGCAGGACGTCCAGAG 0.498000 9 8 0 0 1 0 0 BAALC 79870 broad.mit.edu 37 8 104225165 104225165 + Missense_Mutation SNP T T G TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:104225165T>G ENST00000309982.5 + 2 367 c.179T>G c.(178-180)cTg>cGg p.L60R RP11-318M2.2_ENST00000499522.2_RNA|RP11-318M2.2_ENST00000523614.2_RNA|BAALC_ENST00000438105.2_Intron|BAALC_ENST00000297574.6_Missense_Mutation_p.L95R NM_024812.2 NP_079088.1 Q8WXS3 BAALC_HUMAN brain and acute leukemia, cytoplasmic 95 centrosome|membrane|nucleus kidney(1)|large_intestine(3)|lung(3) 7 OV - Ovarian serous cystadenocarcinoma(57;3.49e-05)|STAD - Stomach adenocarcinoma(118;0.133) GAAGATGGACTGCCCTCCAAT 0.547000 34 74 0 0 1 0 0 PKP4 8502 broad.mit.edu 37 2 159488277 159488277 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:159488277C>T ENST00000389757.3 + 8 1291 c.1166C>T c.(1165-1167)tCc>tTc p.S389F PKP4_ENST00000389759.3_Missense_Mutation_p.S389F NM_001005476.1 NP_001005476.1 Q99569 PKP4_HUMAN plakophilin 4 389 cell adhesion desmosome protein binding breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 61 TTACGGAGTTCCTATGCTAGT 0.438000 HNSCC(62;0.18) 53 72 0 0 1 0 0 C9 735 broad.mit.edu 37 5 39316104 39316104 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:39316104C>T ENST00000263408.4 - 6 738 c.643G>A c.(643-645)Gaa>Aaa p.E215K C9_ENST00000509186.1_5'UTR NM_001737.3 NP_001728.1 P02748 CO9_HUMAN complement component 9 215 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes extracellular region|membrane attack complex p.E215*(1) central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 32 all_lung(31;0.000197) all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511) Epithelial(62;0.158) TCGTAATGTTCGGTTCTGAAA 0.313000 10 22 0 0 1 0 0 ESRRB 2103 broad.mit.edu 37 14 76964646 76964646 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr14:76964646C>T ENST00000380887.2 + 7 1219 c.1147C>T c.(1147-1149)Cat>Tat p.H383Y ESRRB_ENST00000509242.1_Missense_Mutation_p.H383Y|ESRRB_ENST00000556177.1_Missense_Mutation_p.H383Y|ESRRB_ENST00000261532.7_Missense_Mutation_p.H383Y|RP11-187O7.3_ENST00000554926.1_lincRNA A2VDJ2 A2VDJ2_HUMAN estrogen-related receptor beta 383 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) GAGCCAGCGCCATGAGGAGCC 0.617000 41 8 0 0 1 0 0 OLFML2A 169611 broad.mit.edu 37 9 127572460 127572460 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr9:127572460G>A ENST00000373580.3 + 8 1728 c.1728G>A c.(1726-1728)ggG>ggA p.G576G OLFML2A_ENST00000288815.5_Silent_p.G362G NM_182487.2 NP_872293.2 Q68BL7 OLM2A_HUMAN olfactomedin-like 2A 576 Olfactomedin-like. endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 25 ACTCCTACGGGAACTGCTTCC 0.652000 21 31 0 0 1 0 0 KLHL38 340359 broad.mit.edu 37 8 124664268 124664268 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:124664268C>T ENST00000325995.7 - 1 922 c.899G>A c.(898-900)aGg>aAg p.R300K CTD-2552K11.2_ENST00000524355.1_RNA NM_001081675.2 NP_001075144.2 Q2WGJ6 KLH38_HUMAN kelch-like family member 38 300 breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1) 38 TAGGACGTCCCTGGTGGTCTG 0.567000 23 74 0 0 1 0 0 EPHA7 2045 broad.mit.edu 37 6 93956611 93956611 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:93956611C>T ENST00000369303.4 - 15 2809 c.2625G>A c.(2623-2625)aaG>aaA p.K875K NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 875 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) CAGCACGCTCCTTTTGCCAAC 0.423000 23 37 0 0 1 0 0 PCID2 55795 broad.mit.edu 37 13 113833280 113833280 + Splice_Site SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr13:113833280C>T ENST00000375457.2 - 13 1700 c.1104_splice c.e13+1 p.M368_splice PCID2_ENST00000375479.2_Splice_Site_p.M370_splice|PCID2_ENST00000493650.1_5'UTR|PCID2_ENST00000246505.5_Splice_Site_p.M424_splice|PCID2_ENST00000351317.3_Splice_Site_p.M347_splice|PCID2_ENST00000375459.1_Splice_Site_p.M368_splice|PCID2_ENST00000337344.4_Splice_Site_p.M370_splice|PCID2_ENST00000375477.1_Splice_Site_p.M370_splice NM_001258213.1 NP_001245142.1 Q5JVF3 PCID2_HUMAN PCI domain containing 2 370 PCI. negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10) 20 Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_lung(25;0.216)|all_epithelial(44;0.234) all cancers(43;0.104) ACTCACACACCATGTATATCA 0.433000 25 33 0 0 1 0 0 OR52J3 119679 broad.mit.edu 37 11 5068091 5068091 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:5068091G>A ENST00000380370.1 + 1 336 c.336G>A c.(334-336)atG>atA p.M112I NM_001001916.2 NP_001001916.2 Q8NH60 O52J3_HUMAN olfactory receptor, family 52, subfamily J, member 3 112 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2) 36 Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204) Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19) TCACTGGCATGGAGGCTGAGG 0.512000 18 20 0 0 1 0 0 TGFBR2 7048 broad.mit.edu 37 3 30713877 30713877 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:30713877C>T ENST00000295754.5 + 4 1584 c.1202C>T c.(1201-1203)tCc>tTc p.S401F TGFBR2_ENST00000359013.4_Missense_Mutation_p.S426F NM_003242.5 NP_003233.4 P37173 TGFR2_HUMAN transforming growth factor, beta receptor II (70/80kDa) 401 Protein kinase. activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis caveola|external side of plasma membrane ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2) 53 TTTGGGCTTTCCCTGCGTCTG 0.552000 106 153 0 0 1 0 0 CAMKMT 79823 broad.mit.edu 37 2 44617386 44617386 + Silent SNP T T C TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:44617386T>C ENST00000378494.3 + 3 362 c.318T>C c.(316-318)aaT>aaC p.N106N CAMKMT_ENST00000402247.1_Silent_p.N106N|CAMKMT_ENST00000403853.3_Silent_p.N106N|CAMKMT_ENST00000477623.1_3'UTR|CAMKMT_ENST00000407131.1_Silent_p.N106N NM_024766.3 NP_079042.1 Q7Z624 CMKMT_HUMAN calmodulin-lysine N-methyltransferase 106 cytoplasm calmodulin-lysine N-methyltransferase activity breast(2)|large_intestine(3)|lung(5) 10 CTAGGCATAATAGTGGATCCT 0.303000 12 35 0 0 1 0 0 ZIM2 23619 broad.mit.edu 37 19 57286319 57286319 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:57286319G>A ENST00000391708.3 - 12 1863 c.1321C>T c.(1321-1323)Cct>Tct p.P441S AC006115.3_ENST00000597946.1_RNA|AC006115.3_ENST00000595954.1_RNA|AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000601070.1_Missense_Mutation_p.P441S|ZIM2_ENST00000599935.1_Missense_Mutation_p.P441S|ZIM2_ENST00000593711.1_Missense_Mutation_p.P441S|ZIM2_ENST00000221722.5_Missense_Mutation_p.P441S NM_001146326.1|NM_001146327.1 NP_001139798.1|NP_001139799.1 zinc finger, imprinted 2 NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0314) AACCCAGGAGGAAGGACTCTT 0.478000 9 31 0 0 1 0 0 TET2 54790 broad.mit.edu 37 4 106155816 106155816 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr4:106155816C>T ENST00000513237.1 + 3 1577 c.780C>T c.(778-780)tcC>tcT p.S260S TET2_ENST00000540549.1_Silent_p.S239S|TET2_ENST00000413648.2_Silent_p.S239S|TET2_ENST00000545826.1_Silent_p.S239S|TET2_ENST00000380013.4_Silent_p.S239S|TET2_ENST00000394764.1_Silent_p.S239S|TET2_ENST00000305737.2_Silent_p.S239S Q6N021 TET2_HUMAN tet methylcytosine dioxygenase 2 239 cell cycle|myeloid cell differentiation metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 1314 Myeloproliferative disorder(5;0.0393) OV - Ovarian serous cystadenocarcinoma(123;7.18e-08) ATTGTGTTTCCATTGCGGTGC 0.448000 """Mis N, F""" MDS 24 12 0 0 1 0 0 PADI2 11240 broad.mit.edu 37 1 17413097 17413097 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:17413097G>A ENST00000444885.2 - 5 590 c.509C>T c.(508-510)tCg>tTg p.S170L PADI2_ENST00000375481.1_Silent_p.F251F|PADI2_ENST00000375486.4_Silent_p.F251F Q9Y2J8 PADI2_HUMAN peptidyl arginine deiminase, type II 0 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) L-Citrulline(DB00155) GGCCTTCCACGAAGAACAGCA 0.622000 22 120 0 0 1 0 0 DNMT3B 1789 broad.mit.edu 37 20 31374395 31374395 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr20:31374395C>T ENST00000328111.2 + 5 715 c.394C>T c.(394-396)Cat>Tat p.H132Y DNMT3B_ENST00000348286.2_Missense_Mutation_p.H132Y|DNMT3B_ENST00000443239.3_Intron|DNMT3B_ENST00000456297.2_Intron|DNMT3B_ENST00000375623.4_Intron|DNMT3B_ENST00000344505.4_Missense_Mutation_p.H132Y|DNMT3B_ENST00000353855.2_Missense_Mutation_p.H132Y|DNMT3B_ENST00000201963.3_Missense_Mutation_p.H144Y NM_006892.3 NP_008823.1 Q9UBC3 DNM3B_HUMAN DNA (cytosine-5-)-methyltransferase 3 beta 132 Interaction with DNMT1 and DNMT3A. negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation metal ion binding|protein binding|transcription corepressor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GGGCCGCAACCATGTGGACGA 0.622000 18 116 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345778 33345778 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr20:33345778G>A ENST00000374796.2 - 8 3343 c.773C>T c.(772-774)cCc>cTc p.P258L NCOA6_ENST00000359003.2_Missense_Mutation_p.P258L Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 258 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 ctgcagctgGGGAAAATTAGC 0.522000 16 52 0 0 1 0 0 TRAK1 22906 broad.mit.edu 37 3 42264848 42264848 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:42264848C>T ENST00000327628.5 + 16 2881 c.2481C>T c.(2479-2481)gtC>gtT p.V827V TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000396175.1_Silent_p.V769V NM_001042646.2 NP_001036111.1 Q9UPV9 TRAK1_HUMAN trafficking protein, kinesin binding 1 827 endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter early endosome|mitochondrion|nucleus central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 22 AAAAGAACGTCCGCAGCAGCG 0.577000 25 19 0 0 1 0 0 LRIT3 345193 broad.mit.edu 37 4 110790998 110790998 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr4:110790998C>T ENST00000327908.3 + 4 1308 c.544C>T c.(544-546)Cct>Tct p.P182S LRIT3_ENST00000379920.3_Missense_Mutation_p.P320S|LRIT3_ENST00000594814.1_Missense_Mutation_p.P365S|LRIT3_ENST00000409621.2_Missense_Mutation_p.P182S Q3SXY7 LRIT3_HUMAN leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 320 LRRCT. integral to membrane cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1) 16 OV - Ovarian serous cystadenocarcinoma(123;0.0011) TGGAGATCATCCTGAGTGGGA 0.473000 30 130 0 0 1 0 0 KCNK1 3775 broad.mit.edu 37 1 233807022 233807022 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:233807022C>T ENST00000366621.3 + 3 925 c.757C>T c.(757-759)Ctg>Ttg p.L253L KCNK1_ENST00000472190.1_3'UTR|KCNK1_ENST00000366620.1_Silent_p.L137L NM_002245.3 NP_002236.1 O00180 KCNK1_HUMAN potassium channel, subfamily K, member 1 253 voltage-gated potassium channel complex inward rectifier potassium channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1) 11 all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175) Ibutilide(DB00308)|Quinidine(DB00908) CACAGGTTACCTGCTACTTGG 0.423000 17 62 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237880516 237880516 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:237880516G>A ENST00000366574.2 + 72 10659 c.10342G>A c.(10342-10344)Gaa>Aaa p.E3448K RYR2_ENST00000542537.1_Missense_Mutation_p.E3432K|RYR2_ENST00000360064.6_Missense_Mutation_p.E3446K NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 3448 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding p.E3446*(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TTCTGATCAGGAAAGGAAGAA 0.463000 18 7 0 0 1 0 0 CFTR 1080 broad.mit.edu 37 7 117232697 117232697 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:117232697G>A ENST00000003084.6 + 14 2608 c.2476G>A c.(2476-2478)Gaa>Aaa p.E826K CFTR_ENST00000454343.1_Missense_Mutation_p.E765K NM_000492.3 NP_000483.3 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 826 E -> K (in thoracic sarcoidosis). respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) AGAAATTAACGAAGAAGACTT 0.373000 Cystic Fibrosis 26 27 0 0 1 0 0 SCAPER 49855 broad.mit.edu 37 15 77020967 77020967 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr15:77020967C>T ENST00000538941.2 - 17 2335 c.1396G>A c.(1396-1398)Gcc>Acc p.A466T SCAPER_ENST00000563290.1_Missense_Mutation_p.A712T|SCAPER_ENST00000324767.7_Missense_Mutation_p.A712T NM_001145923.1 NP_001139395.1 Q9BY12 SCAPE_HUMAN S-phase cyclin A-associated protein in the ER 711 Glu-rich. endoplasmic reticulum|nucleus zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2) 39 TCCTCACGGGCTTTTTCCTTT 0.448000 24 67 0 0 1 0 0 RIMS2 9699 broad.mit.edu 37 8 105260930 105260930 + Splice_Site SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:105260930C>T ENST00000507740.1 + 19 3156 c.2918_splice c.e19-1 p.L974_splice RIMS2_ENST00000339750.2_Splice_Site_p.L96_splice|RIMS2_ENST00000406091.3_Splice_Site_p.L1160_splice|RIMS2_ENST00000262231.10_Splice_Site_p.L999_splice|RIMS2_ENST00000436393.2_Splice_Site_p.L1178_splice NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 1222 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) TGCTTTCAGTCTGATTTTCCC 0.463000 HNSCC(12;0.0054) 16 23 0 0 1 0 0 DCC 1630 broad.mit.edu 37 18 50832017 50832017 + Nonsense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr18:50832017C>T ENST00000442544.2 + 13 2597 c.1981C>T c.(1981-1983)Cga>Tga p.R661* DCC_ENST00000581580.1_Nonsense_Mutation_p.R316*|DCC_ENST00000412726.1_Nonsense_Mutation_p.R509* NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 661 Fibronectin type-III 3. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane p.R661*(1) 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) CTATAAAATTCGACACAGAAA 0.423000 20 31 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38739372 38739372 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:38739372G>A ENST00000449082.2 - 27 5338 c.5339C>T c.(5338-5340)cCc>cTc p.P1780L NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1780 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) ATTTCGATTGGGTTTTGGGAT 0.478000 6 61 0 0 1 0 0 IMPDH2 3615 broad.mit.edu 37 3 49066696 49066696 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:49066696G>A ENST00000326739.4 - 1 127 c.88C>T c.(88-90)Ctc>Ttc p.L30F NM_000884.2 NP_000875.2 P12268 IMDH2_HUMAN IMP (inosine 5'-monophosphate) dehydrogenase 2 30 GMP biosynthetic process|purine base metabolic process cytosol|nucleus IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157) TTGTAGGTGAGGCCGTCTCCG 0.647000 4 12 0 0 1 0 0 RBMX 27316 broad.mit.edu 37 X 135960094 135960094 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chrX:135960094G>A ENST00000562646.1 - 4 522 c.368C>T c.(367-369)cCc>cTc p.P123L RBMX_ENST00000570135.1_Intron|RBMX_ENST00000431446.3_Intron|RBMX_ENST00000320676.7_Missense_Mutation_p.P123L|RBMX_ENST00000565438.1_5'UTR P38159 HNRPG_HUMAN RNA binding motif protein, X-linked 123 catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1) 33 Acute lymphoblastic leukemia(192;0.000127) TCCCCGTGAGGGAGGTCCCCT 0.542000 36 10 0 0 1 0 0 OR13D1 286365 broad.mit.edu 37 9 107457245 107457245 + Nonsense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr9:107457245G>A ENST00000318763.5 + 1 586 c.543G>A c.(541-543)tgG>tgA p.W181* NM_001004484.1 NP_001004484.1 Q8NGV5 O13D1_HUMAN olfactory receptor, family 13, subfamily D, member 1 181 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2) 19 CATGGTCCTGGATCATAGGCT 0.458000 42 20 0 0 1 0 0 EIF2AK1 27102 broad.mit.edu 37 7 6077153 6077153 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:6077153G>A ENST00000199389.6 - 11 1380 c.1234C>T c.(1234-1236)Cct>Tct p.P412S EIF2AK1_ENST00000536084.1_Missense_Mutation_p.P288S NM_001134335.1|NM_014413.3 NP_001127807.1|NP_055228.2 Q9BQI3 E2AK1_HUMAN eukaryotic translation initiation factor 2-alpha kinase 1 412 Protein kinase. negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress cytoplasm ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2) 27 Ovarian(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14) ATAACATAAGGACCTTGAAGT 0.299000 28 48 0 0 1 0 0 OR4K13 390433 broad.mit.edu 37 14 20502004 20502004 + Splice_Site SNP T T C TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr14:20502004T>C ENST00000315693.2 - 1 915 c.912_splice c.e1+1 p.*305_splice NM_001004714.1 NP_001004714.1 Q8NH42 OR4KD_HUMAN olfactory receptor, family 4, subfamily K, member 13 0 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4) 24 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) GCTTTAAATTTATATGCAGAG 0.294000 8 4 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76482354 76482354 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr17:76482354G>A ENST00000389840.5 - 45 7135 c.7011C>T c.(7009-7011)ttC>ttT p.F2337F RP11-559N14.5_ENST00000585969.1_RNA|DNAH17_ENST00000585328.1_Silent_p.F2346F|DNAH17_ENST00000586052.1_5'UTR dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) AGGTGAACACGAAGTACAGCT 0.627000 31 19 0 0 1 0 0 JMY 133746 broad.mit.edu 37 5 78610674 78610674 + Splice_Site SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:78610674G>A ENST00000396137.4 + 9 3121 c.2659_splice c.e9+1 p.V887_splice JMY_ENST00000412001.1_Intron NM_152405.4 NP_689618.4 Q8N9B5 JMY_HUMAN junction mediating and regulatory protein, p53 cofactor 887 'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter cell leading edge|cytoplasm|cytoskeleton|nucleus actin binding|transcription coactivator activity endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1) 16 all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35) GAGGAGGAGAGGTACGTCAAC 0.443000 13 25 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113988066 113988066 + Splice_Site SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:113988066C>T ENST00000297405.5 - 7 1586 c.1342_splice c.e7+1 p.V448_splice CSMD3_ENST00000343508.3_Splice_Site_p.V408_splice|CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000352409.3_Splice_Site_p.V448_splice NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 448 integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 CATCCAATACCTCTATGAGTA 0.383000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 44 84 0 0 1 0 0 CCNDBP1 23582 broad.mit.edu 37 15 43483811 43483811 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr15:43483811G>A ENST00000300213.4 + 8 1040 c.798G>A c.(796-798)ggG>ggA p.G266G EPB42_ENST00000563128.1_Intron|CCNDBP1_ENST00000356633.5_Silent_p.G105G NM_012142.4 NP_036274.3 O95273 CCDB1_HUMAN cyclin D-type binding-protein 1 266 Interaction with RPLP0.|Interaction with TCF3. cell cycle cytoplasm|nucleus protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1) 13 all_cancers(109;3.31e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.42e-07) CAGAGAATGGGAAGAAGGATC 0.502000 10 32 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135429708 135429708 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chrX:135429708G>A ENST00000394143.1 + 6 4134 c.3843G>A c.(3841-3843)aaG>aaA p.K1281K GPR112_ENST00000394141.1_Silent_p.K1076K|GPR112_ENST00000370652.1_Silent_p.K1281K|GPR112_ENST00000287534.4_Silent_p.K1218K|GPR112_ENST00000412101.1_Silent_p.K1076K NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 1281 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) CCCCATCAAAGAATTCTTTTA 0.433000 35 4 0 0 1 0 0 ARSJ 79642 broad.mit.edu 37 4 114824031 114824031 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr4:114824031C>T ENST00000315366.7 - 2 2065 c.1199G>A c.(1198-1200)gGc>gAc p.G400D ARSJ_ENST00000541197.1_Missense_Mutation_p.G400D NM_024590.3 NP_078866.3 Q5FYB0 ARSJ_HUMAN arylsulfatase family, member J 400 extracellular region arylsulfatase activity|metal ion binding endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1) 21 Ovarian(17;0.0035)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00194) GATATCATAGCCATCTAGTTG 0.458000 103 52 0 0 1 0 0 C3orf33 285315 broad.mit.edu 37 3 155481320 155481320 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:155481320G>A ENST00000534941.1 - 6 1011 c.742C>T c.(742-744)Cgt>Tgt p.R248C C3orf33_ENST00000340171.2_Missense_Mutation_p.R291C NM_173657.1 NP_775928.1 Q96NB5 Q96NB5_HUMAN chromosome 3 open reading frame 33 248 hydrolase activity, acting on ester bonds|nucleic acid binding p.R242C(1) breast(1)|kidney(1)|large_intestine(3)|lung(3) 8 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) CCTTTTCTACGAAAGTTTATG 0.323000 11 13 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61946604 61946604 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr10:61946604C>T ENST00000280772.1 - 17 2145 c.1954G>A c.(1954-1956)Gaa>Aaa p.E652K ANK3_ENST00000373827.2_Missense_Mutation_p.E646K|ANK3_ENST00000503366.1_Missense_Mutation_p.E635K NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 652 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 GCACCATATTCCAGCAGAGTT 0.537000 25 12 0 0 1 0 0 TGM4 7047 broad.mit.edu 37 3 44948573 44948573 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:44948573G>A ENST00000296125.4 + 10 1276 c.1208G>A c.(1207-1209)gGg>gAg p.G403E NM_003241.3 NP_003232.2 P49221 TGM4_HUMAN transglutaminase 4 403 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) ATGGTGAATGGGCAGGAGGAG 0.483000 42 84 0 0 1 0 0 ACSS2 55902 broad.mit.edu 37 20 33500980 33500980 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr20:33500980C>T ENST00000360596.2 + 3 667 c.456C>T c.(454-456)ctC>ctT p.L152L ACSS2_ENST00000336325.4_Silent_p.L102L|ACSS2_ENST00000476922.1_Intron|ACSS2_ENST00000253382.5_Silent_p.L152L NM_018677.3 NP_061147.1 Q9NR19 ACSA_HUMAN acyl-CoA synthetase short-chain family member 2 152 ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process cytosol|nucleus acetate-CoA ligase activity|ATP binding|protein binding cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9) 21 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) GCAATGTTCTCCGAAAACAGG 0.532000 32 75 0 0 1 0 0 PCDHGA4 56111 broad.mit.edu 37 5 140735534 140735534 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:140735534C>T ENST00000571252.1 + 1 767 c.767C>T c.(766-768)cCt>cTt p.P256L PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron NM_018917.2 NP_061740.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAGAACGTTCCTGTAGGCACT 0.478000 9 15 0 0 1 0 0 PTPRB 5787 broad.mit.edu 37 12 70980858 70980858 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:70980858C>T ENST00000334414.6 - 9 2284 c.2240G>A c.(2239-2241)cGa>cAa p.R747Q PTPRB_ENST00000538708.1_Missense_Mutation_p.R529Q|PTPRB_ENST00000451516.2_Missense_Mutation_p.R439Q|PTPRB_ENST00000261266.5_Missense_Mutation_p.R529Q|PTPRB_ENST00000551525.1_Missense_Mutation_p.R746Q|PTPRB_ENST00000550358.1_Missense_Mutation_p.R747Q|PTPRB_ENST00000550857.1_Missense_Mutation_p.R439Q|PTPRB_ENST00000538174.2_5'UTR NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 529 Fibronectin type-III 9. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) CATGTATTTTCGTCCAGGCAC 0.373000 17 35 0 0 1 0 0 NCKAP5 344148 broad.mit.edu 37 2 133542279 133542279 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:133542279G>A ENST00000409261.1 - 14 2478 c.2105C>T c.(2104-2106)cCt>cTt p.P702L NCKAP5_ENST00000317721.6_Missense_Mutation_p.P702L|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 702 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 GGGTCCAGCAGGAGTTGAATT 0.448000 49 64 0 0 1 0 0 F2RL1 2150 broad.mit.edu 37 5 76129488 76129488 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:76129488G>A ENST00000296677.4 + 2 1262 c.1056G>A c.(1054-1056)agG>agA p.R352R NM_005242.4 NP_005233.3 P55085 PAR2_HUMAN coagulation factor II (thrombin) receptor-like 1 352 blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation Golgi apparatus|integral to plasma membrane receptor binding|thrombin receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1) 13 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41) ATGATTTCAGGGATCATGCAA 0.473000 157 202 0 0 1 0 0 EML5 161436 broad.mit.edu 37 14 89202745 89202745 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr14:89202745G>A ENST00000554922.1 - 7 1260 c.1012C>T c.(1012-1014)Cct>Tct p.P338S EML5_ENST00000380664.5_Missense_Mutation_p.P338S|EML5_ENST00000352093.5_Missense_Mutation_p.P338S NM_183387.2 NP_899243.1 Q05BV3 EMAL5_HUMAN echinoderm microtubule associated protein like 5 338 cytoplasm|microtubule breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 ACAGCCAAAGGTTTAGTAGGA 0.368000 95 30 0 0 1 0 0 PRDM2 7799 broad.mit.edu 37 1 14107244 14107244 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:14107244C>T ENST00000235372.7 + 8 3810 c.2954C>T c.(2953-2955)cCg>cTg p.P985L PRDM2_ENST00000343137.4_Missense_Mutation_p.P784L|PRDM2_ENST00000311066.5_Missense_Mutation_p.P985L|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.P784L|PRDM2_ENST00000505823.1_Intron NM_012231.4 NP_036363.2 Q13029 PRDM2_HUMAN PR domain containing 2, with ZNF domain 985 Pro-rich. Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 55 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) GTTGCCACTCCGCCCCCTCCC 0.612000 31 131 0 0 1 0 0 ANK2 287 broad.mit.edu 37 4 114275901 114275901 + Nonsense_Mutation SNP C C T rs35152218 TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr4:114275901C>T ENST00000357077.4 + 38 6180 c.6127C>T c.(6127-6129)Cag>Tag p.Q2043* ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Nonsense_Mutation_p.Q2010*|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 2010 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) GAGAGAAGCTCAGAAAACAGA 0.453000 61 43 0 0 1 0 0 SERPINI2 5276 broad.mit.edu 37 3 167189480 167189480 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:167189480G>A ENST00000476257.1 - 3 441 c.143C>T c.(142-144)tCa>tTa p.S48L SERPINI2_ENST00000264677.4_Missense_Mutation_p.S48L|SERPINI2_ENST00000461846.1_Missense_Mutation_p.S48L|SERPINI2_ENST00000471111.1_Missense_Mutation_p.S48L|SERPINI2_ENST00000465031.1_5'UTR O75830 SPI2_HUMAN serpin peptidase inhibitor, clade I (pancpin), member 2 48 cellular component movement|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1) 41 TCCAAGGGGTGAAAATATAAT 0.393000 36 45 0 0 1 0 0 EXOC3 11336 broad.mit.edu 37 5 453869 453869 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:453869C>T ENST00000512944.1 + 4 938 c.749C>T c.(748-750)aCc>aTc p.T250I EXOC3_ENST00000315013.5_Missense_Mutation_p.T250I NM_007277.4 NP_009208.2 O60645 EXOC3_HUMAN exocyst complex component 3 261 exocytosis|protein transport breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1) 23 Ovarian(839;0.0563) Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) AAAATGTTCACCATCTTGGAG 0.488000 56 36 0 0 1 0 0 TROAP 10024 broad.mit.edu 37 12 49724537 49724537 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:49724537C>T ENST00000551245.1 + 13 2020 c.1909C>T c.(1909-1911)Cct>Tct p.P637S TROAP_ENST00000257909.3_Missense_Mutation_p.P637S|TROAP_ENST00000547923.1_Missense_Mutation_p.P316S Q12815 TROAP_HUMAN trophinin associated protein 637 4 X 33 AA approximate tandem repeats.|Cys-rich. cell adhesion cytoplasm breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 32 AGGGCCCTGCCCTAGGGTAGA 0.647000 14 66 0 0 1 0 0 CACNA1H 8912 broad.mit.edu 37 16 1268386 1268386 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr16:1268386G>A ENST00000348261.5 + 33 5870 c.5622G>A c.(5620-5622)gcG>gcA p.A1874A CACNA1H_ENST00000358590.4_Silent_p.A1868A|CACNA1H_ENST00000565831.1_Silent_p.A1868A NM_021098.2 NP_066921.2 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, alpha 1H subunit 1874 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) GGGAGGATGCGGAGCTGGACG 0.682000 4 6 0 0 1 0 0 CHEK2P2 646096 broad.mit.edu 37 15 20489465 20489465 + RNA SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr15:20489465C>T ENST00000555186.1 + 0 453 NR_038836.1 CAACTTCATTCCTAAAGTCTG 0.423000 4 44 0 0 1 0 0 RP11-478B9.1 0 broad.mit.edu 37 12 45457377 45457377 + RNA SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:45457377G>A ENST00000548424.1 + 0 448 CTGTGACAGGGAACTAGATGA 0.463000 16 17 0 0 1 0 0 C12orf68 387856 broad.mit.edu 37 12 48578275 48578275 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:48578275G>A ENST00000316554.3 + 1 910 c.370G>A c.(370-372)Ggg>Agg p.G124R NM_001013635.3 NP_001013657.3 Q52MB2 CL068_HUMAN chromosome 12 open reading frame 68 124 cytoplasm central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1) 4 TCCTTCGCCTGGGATCGGGGA 0.672000 10 7 0 0 1 0 0 CFHR5 81494 broad.mit.edu 37 1 196973818 196973818 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:196973818C>T ENST00000367414.5 + 9 1486 c.1430C>T c.(1429-1431)cCa>cTa p.P477L CFHR5_ENST00000256785.4_Missense_Mutation_p.P453L NM_030787.3 NP_110414.1 Q9BXR6 FHR5_HUMAN complement factor H-related 5 453 Sushi 8. complement activation, alternative pathway extracellular region NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 49 GGGCCCCCTCCATCTATTAAC 0.398000 23 116 0 0 1 0 0 ISLR 3671 broad.mit.edu 37 15 74467458 74467458 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr15:74467458C>T ENST00000249842.3 + 2 616 c.259C>T c.(259-261)Cgc>Tgc p.R87C ISLR_ENST00000395118.1_Missense_Mutation_p.R87C|RP11-665J16.1_ENST00000561647.1_RNA NM_005545.3 NP_005536.1 O14498 ISLR_HUMAN immunoglobulin superfamily containing leucine-rich repeat 87 cell adhesion extracellular region central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1) 20 CAATGAGATCCGCACGGTGGC 0.632000 28 23 0 0 1 0 0 PLCH1 23007 broad.mit.edu 37 3 155311831 155311831 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:155311831G>A ENST00000460012.1 - 4 636 c.279C>T c.(277-279)tcC>tcT p.S93S PLCH1_ENST00000447496.2_Silent_p.S111S|PLCH1_ENST00000414191.1_Silent_p.S93S|PLCH1_ENST00000340059.7_Silent_p.S111S|PLCH1_ENST00000334686.6_Silent_p.S93S|PLCH1_ENST00000494598.1_Silent_p.S111S Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 111 PH. lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) CCTCGGGGTTGGAGGTGATGA 0.567000 17 21 0 0 1 0 0 CELF4 56853 broad.mit.edu 37 18 34850768 34850768 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr18:34850768C>T ENST00000420428.2 - 8 1457 c.1062G>A c.(1060-1062)gcG>gcA p.A354A CELF4_ENST00000591282.1_Silent_p.A354A|CELF4_ENST00000591287.1_Silent_p.A353A|CELF4_ENST00000334919.5_Silent_p.A344A|CELF4_ENST00000601019.1_Silent_p.A352A|CELF4_ENST00000412753.1_Silent_p.A353A|CELF4_ENST00000361795.5_Silent_p.A352A|CELF4_ENST00000603232.1_Silent_p.A353A|CELF4_ENST00000588597.1_Silent_p.A343A NM_020180.3 NP_064565.1 Q9BZC1 CELF4_HUMAN CUGBP, Elav-like family member 4 354 embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding p.A354A(1) breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 44 ACACAGCTTCCGCAGCAGGTT 0.587000 23 58 0 0 1 0 0 C7orf62 219557 broad.mit.edu 37 7 88423533 88423533 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:88423533C>T ENST00000297203.2 - 2 909 c.724G>A c.(724-726)Gat>Aat p.D242N ZNF804B_ENST00000333190.4_Intron NM_152706.3 NP_689919.1 Q8TBZ9 CG062_HUMAN chromosome 7 open reading frame 62 242 NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 30 ACCTCAGAATCCAGAGTGATG 0.403000 7 19 0 0 1 0 0 KHDC1 80759 broad.mit.edu 37 6 73951871 73951871 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:73951871G>A ENST00000423730.3 - 3 637 c.202C>T c.(202-204)Cgt>Tgt p.R68C KHDC1_ENST00000257765.5_Missense_Mutation_p.R68C|KHDC1_ENST00000370384.3_Missense_Mutation_p.R141C ACAGTCACACGAGTCTGGCCT 0.542000 24 15 0 0 1 0 0 IGSF1 3547 broad.mit.edu 37 X 130409144 130409144 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chrX:130409144C>T ENST00000370904.1 - 23 4184 c.3274G>A c.(3274-3276)Gag>Aag p.E1092K IGSF1_ENST00000361420.3_Missense_Mutation_p.E1101K|IGSF1_ENST00000370910.1_Missense_Mutation_p.E1092K|IGSF1_ENST00000370903.3_Missense_Mutation_p.E1106K Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 1101 Ig-like C2-type 11. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 TGAGCCCCCTCCTTCAACAGG 0.547000 132 28 0 0 1 0 0 C17orf104 284071 broad.mit.edu 37 17 42745073 42745073 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr17:42745073G>A ENST00000409122.2 + 5 1936 c.1794G>A c.(1792-1794)ggG>ggA p.G598G C17orf104_ENST00000409464.1_Silent_p.G432G|C17orf104_ENST00000359945.3_Silent_p.G598G NM_001145080.2 NP_001138552.2 A2RUB1 CQ104_HUMAN chromosome 17 open reading frame 104 598 autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1) 24 AGAAGTATGGGATAATTGAAA 0.353000 7 12 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 144991293 144991293 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:144991293G>A ENST00000322810.4 - 32 13276 c.13107C>T c.(13105-13107)ttC>ttT p.F4369F PLEC_ENST00000354958.2_Silent_p.F4210F|PLEC_ENST00000356346.3_Silent_p.F4218F|PLEC_ENST00000527096.1_Silent_p.F4255F|PLEC_ENST00000436759.2_Silent_p.F4259F|PLEC_ENST00000357649.2_Silent_p.F4236F|PLEC_ENST00000398774.2_Silent_p.F4200F|PLEC_ENST00000345136.3_Silent_p.F4232F|PLEC_ENST00000354589.3_Silent_p.F4232F NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 4369 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 GCATGTCGGCGAACTCGGTGA 0.667000 34 53 0 0 1 0 0 ALPK2 115701 broad.mit.edu 37 18 56202404 56202404 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr18:56202404G>A ENST00000361673.3 - 5 5228 c.5015C>T c.(5014-5016)cCa>cTa p.P1672L NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 1672 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 CTTTTGACATGGATCCTGCAG 0.532000 29 60 0 0 1 0 0 FBN1 2200 broad.mit.edu 37 15 48807693 48807693 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr15:48807693G>A ENST00000316623.5 - 12 1814 c.1359C>T c.(1357-1359)tgC>tgT p.C453C NM_000138.4 NP_000129.3 P35555 FBN1_HUMAN fibrillin 1 453 EGF-like 6. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) GGACCAACTGGCAGTAATCAG 0.463000 36 30 0 0 1 0 0 TPO 7173 broad.mit.edu 37 2 1488578 1488578 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:1488578C>T ENST00000345913.4 + 9 1640 c.1549C>T c.(1549-1551)Ctg>Ttg p.L517L TPO_ENST00000337415.3_Silent_p.L517L|TPO_ENST00000349624.3_Silent_p.L344L|TPO_ENST00000329066.4_Silent_p.L517L|TPO_ENST00000382201.3_Silent_p.L517L|TPO_ENST00000346956.3_Silent_p.L517L|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000382198.1_Silent_p.L344L NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 517 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) CCTGCCCGGGCTGTGGCTGCA 0.627000 12 45 0 0 1 0 0 ELF2 1998 broad.mit.edu 37 4 139994657 139994657 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr4:139994657G>A ENST00000394235.2 - 5 805 c.303C>T c.(301-303)gcC>gcT p.A101A ELF2_ENST00000379549.2_Silent_p.A41A|ELF2_ENST00000379550.1_Silent_p.A101A|ELF2_ENST00000358635.3_Silent_p.A41A|ELF2_ENST00000510408.1_Silent_p.A41A|ELF2_ENST00000265495.4_Silent_p.A101A NM_001276458.1 NP_001263387.1 Q15723 ELF2_HUMAN E74-like factor 2 (ets domain transcription factor) 101 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter cytoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1) 19 all_hematologic(180;0.162) TATGAAGCAGGGCTTCAGCAG 0.383000 24 23 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9060431 9060431 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:9060431C>T ENST00000397910.4 - 3 27218 c.27015G>A c.(27013-27015)agG>agA p.R9005R NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 9007 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGCTGGTCTCCCTTGGTGTGG 0.498000 38 62 0 0 1 0 0 GLI2 2736 broad.mit.edu 37 2 121743921 121743921 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:121743921C>T ENST00000452319.1 + 13 2084 c.2024C>T c.(2023-2025)cCc>cTc p.P675L GLI2_ENST00000314490.11_Missense_Mutation_p.P347L|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Missense_Mutation_p.P675L P10070 GLI2_HUMAN GLI family zinc finger 2 675 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) GGCAGTGCCCCCAACAATGAC 0.687000 26 40 0 0 1 0 0 PTPN22 26191 broad.mit.edu 37 1 114380238 114380238 + Missense_Mutation SNP A A G TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:114380238A>G ENST00000359785.5 - 13 1919 c.1784T>C c.(1783-1785)cTa>cCa p.L595P PTPN22_ENST00000528414.1_Missense_Mutation_p.L540P|PTPN22_ENST00000525799.1_Missense_Mutation_p.L468P|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000420377.2_Missense_Mutation_p.L595P|PTPN22_ENST00000538253.1_Missense_Mutation_p.L351P NM_001193431.1|NM_015967.5 NP_001180360.1|NP_057051.3 Q9Y2R2 PTN22_HUMAN protein tyrosine phosphatase, non-receptor type 22 (lymphoid) 595 negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation internal side of plasma membrane|nucleus|perinuclear region of cytoplasm kinase binding|protein tyrosine phosphatase activity|SH3 domain binding NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Lung SC(450;0.184) all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CTGGTTCAATAGTGAGGAAAT 0.333000 59 19 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179408342 179408342 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:179408342C>T ENST00000589042.1 - 347 96582 c.96358G>A c.(96358-96360)Gat>Aat p.D32120N TTN_ENST00000342992.6_Missense_Mutation_p.D29552N|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D30479N|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D23055N|TTN_ENST00000342175.6_Missense_Mutation_p.D23247N|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D23180N|TTN-AS1_ENST00000456053.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 30479 Fibronectin type-III 132. 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) GTCACAGAATCTCTTGATACT 0.393000 9 11 0 0 1 0 0 PHKA1 5255 broad.mit.edu 37 X 71825251 71825251 + Splice_Site SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chrX:71825251C>T ENST00000373545.3 - 24 2947 c.e24-1 PHKA1_ENST00000541944.1_Splice_Site|PHKA1_ENST00000373542.4_Splice_Site|PHKA1_ENST00000339490.3_Splice_Site|PHKA1_ENST00000373539.3_Splice_Site P46020 KPB1_HUMAN phosphorylase kinase, alpha 1 (muscle) glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Renal(35;0.156) CCATTATTTCCTGCACACAGA 0.373000 29 3 0 0 1 0 0 OR10AD1 121275 broad.mit.edu 37 12 48597048 48597048 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:48597048C>T ENST00000310248.2 - 1 122 c.28G>A c.(28-30)Gaa>Aaa p.E10K NM_001004134.1 NP_001004134.1 Q8NGE0 O10AD_HUMAN olfactory receptor, family 10, subfamily AD, member 1 10 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|urinary_tract(1) 9 AGGATAAATTCCGTCACTATG 0.517000 5 41 0 0 1 0 0 SYNJ2 8871 broad.mit.edu 37 6 158504519 158504519 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:158504519G>A ENST00000355585.4 + 21 2999 c.2924G>A c.(2923-2925)cGa>cAa p.R975Q SYNJ2_ENST00000367121.3_Missense_Mutation_p.R975Q|SYNJ2_ENST00000367112.1_Missense_Mutation_p.R60Q|SYNJ2_ENST00000367122.2_Missense_Mutation_p.R975Q NM_001178088.1|NM_003898.3 NP_001171559.1|NP_003889.1 O15056 SYNJ2_HUMAN synaptojanin 2 975 nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) AAAGGTTTGCGAGAGGAGATC 0.502000 30 37 0 0 1 0 0 OTUD7B 56957 broad.mit.edu 37 1 149915902 149915902 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:149915902G>A ENST00000369135.3 - 12 2680 c.2386C>T c.(2386-2388)Ccc>Tcc p.P796S NM_020205.2 NP_064590.2 Q6GQQ9 OTU7B_HUMAN OTU domain containing 7B 796 negative regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|microtubule cytoskeleton|nucleus cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247) TGAGTTGGGGGAAGGCCCCGG 0.542000 33 156 0 0 1 0 0 SLC17A2 10246 broad.mit.edu 37 6 25917006 25917006 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:25917006G>A ENST00000377850.3 - 8 1361 c.837C>T c.(835-837)ttC>ttT p.F279F SLC17A2_ENST00000360488.3_Silent_p.F279F|SLC17A2_ENST00000265425.3_Silent_p.F279F O00624 NPT3_HUMAN solute carrier family 17, member 2 279 phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 31 AAAAACCCAGGAAAATGGCCC 0.448000 49 34 0 0 1 0 0 HCN1 348980 broad.mit.edu 37 5 45396699 45396699 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:45396699G>A ENST00000303230.4 - 4 1182 c.1125C>T c.(1123-1125)acC>acT p.T375T NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 375 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 TGCTCAGCATGGTAATCCAGA 0.522000 16 30 0 0 1 0 0 HNRNPM 4670 broad.mit.edu 37 19 8550960 8550960 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:8550960C>T ENST00000348943.3 + 15 1763 c.1531C>T c.(1531-1533)Cgc>Tgc p.R511C HNRNPM_ENST00000325495.4_Missense_Mutation_p.R550C NM_031203.3 NP_112480.2 P52272 HNRPM_HUMAN heterogeneous nuclear ribonucleoprotein M 550 27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV]. alternative nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles nucleotide binding|protein domain specific binding|RNA binding endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1) 25 CGTGATGGATCGCATGGCCAC 0.701000 60 82 0 0 1 0 0 ATRNL1 26033 broad.mit.edu 37 10 117228754 117228754 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr10:117228754C>T ENST00000355044.3 + 24 3695 c.3569C>T c.(3568-3570)tCc>tTc p.S1190F ATRNL1_ENST00000303745.7_Intron|ATRNL1_ENST00000423111.2_Missense_Mutation_p.S241F NM_207303.2 NP_997186.1 Q5VV63 ATRN1_HUMAN attractin-like 1 1190 integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) GATAGTTTTTCCTATGAAAAA 0.289000 8 14 0 0 1 0 0 CERKL 375298 broad.mit.edu 37 2 182413434 182413434 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:182413434G>A ENST00000410087.3 - 7 1146 c.1046C>T c.(1045-1047)gCt>gTt p.A349V CERKL_ENST00000409440.3_Missense_Mutation_p.A331V|CERKL_ENST00000374969.2_Missense_Mutation_p.A236V|CERKL_ENST00000374970.2_Missense_Mutation_p.A280V|CERKL_ENST00000339098.5_Missense_Mutation_p.A375V|CERKL_ENST00000479558.1_5'UTR NM_001030311.2|NM_201548.4 NP_001025482.1|NP_963842.1 Q49MI3 CERKL_HUMAN ceramide kinase-like 375 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis endoplasmic reticulum|Golgi apparatus|nucleolus diacylglycerol kinase activity NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3) 32 OV - Ovarian serous cystadenocarcinoma(117;0.088) CTTAACAACAGCAAAATCTCT 0.383000 31 40 0 0 1 0 0 ERC2 26059 broad.mit.edu 37 3 56183135 56183135 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:56183135C>T ENST00000288221.6 - 5 1430 c.1175G>A c.(1174-1176)cGa>cAa p.R392Q NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 392 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) CCTTATGTTTCGTTCCAATGA 0.333000 6 16 0 0 1 0 0 PTCHD3 374308 broad.mit.edu 37 10 27702223 27702223 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr10:27702223G>A ENST00000438700.3 - 1 1074 c.957C>T c.(955-957)gcC>gcT p.A319A NM_001034842.3 NP_001030014.2 Q3KNS1 PTHD3_HUMAN patched domain containing 3 319 spermatid development integral to membrane hedgehog receptor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 55 GCATGGCTTTGGCCCGCAGGA 0.582000 58 25 0 0 1 0 0 APOA4 337 broad.mit.edu 37 11 116692146 116692146 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:116692146C>T ENST00000357780.3 - 3 742 c.628G>A c.(628-630)Gtc>Atc p.V210I NM_000482.3 NP_000473.2 apolipoprotein A-IV cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 all_hematologic(175;0.0487) Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148) TCAATCTTGACTTTGAATTCG 0.617000 81 124 0 0 1 0 0 EMR1 2015 broad.mit.edu 37 19 6913769 6913769 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:6913769G>A ENST00000312053.4 + 11 1265 c.1228G>A c.(1228-1230)Gaa>Aaa p.E410K EMR1_ENST00000381404.4_Missense_Mutation_p.E358K|EMR1_ENST00000250572.8_Missense_Mutation_p.E410K|EMR1_ENST00000381407.5_Missense_Mutation_p.E269K|EMR1_ENST00000450315.3_Missense_Mutation_p.E233K NM_001974.4 NP_001965.3 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone receptor-like 1 410 Ser/Thr-rich. cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8) 62 all_hematologic(4;0.166) GGAGAGTGTGGAAAGCATGAC 0.483000 51 82 0 0 1 0 0 ACVRL1 94 broad.mit.edu 37 12 52309872 52309872 + Missense_Mutation SNP C C G TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:52309872C>G ENST00000550683.1 + 7 1244 c.1143C>G c.(1141-1143)aaC>aaG p.N381K ACVRL1_ENST00000388922.4_Missense_Mutation_p.N367K|ACVRL1_ENST00000419526.2_Missense_Mutation_p.N193K NM_001077401.1 NP_001070869.1 P37023 ACVL1_HUMAN activin A receptor type II-like 1 367 Protein kinase. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells cell surface|integral to plasma membrane activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 20 BRCA - Breast invasive adenocarcinoma(357;0.0991) Adenosine triphosphate(DB00171) TCGGCAACAACCCGAGAGTGG 0.612000 17 57 0 0 1 0 0 ANKK1 255239 broad.mit.edu 37 11 113270852 113270852 + Nonsense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:113270852C>T ENST00000303941.3 + 8 2255 c.2161C>T c.(2161-2163)Cag>Tag p.Q721* NM_178510.1 NP_848605.1 Q8NFD2 ANKK1_HUMAN ankyrin repeat and kinase domain containing 1 721 ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1) 29 all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194) BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238) GCTGGACGTCCAGGATGGAGT 0.652000 8 19 0 0 1 0 0 SLCO1C1 53919 broad.mit.edu 37 12 20903668 20903668 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:20903668G>A ENST00000381552.1 + 14 2226 c.1858G>A c.(1858-1860)Gga>Aga p.G620R SLCO1C1_ENST00000266509.2_Missense_Mutation_p.G620R|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.G502R|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.G571R|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.G620R Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, member 1C1 620 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) CCTCAAATGGGGATTTAAAAG 0.373000 18 18 0 0 1 0 0 FGFRL1 53834 broad.mit.edu 37 4 1018754 1018754 + Silent SNP C C T rs111246053 TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr4:1018754C>T ENST00000398484.2 + 8 1714 c.1134C>T c.(1132-1134)ccC>ccT p.P378P FGFRL1_ENST00000504138.1_Silent_p.P378P|FGFRL1_ENST00000264748.6_Silent_p.P378P|FGFRL1_ENST00000510644.1_Silent_p.P378P Q8N441 FGRL1_HUMAN fibroblast growth factor receptor-like 1 378 Missing (in Ref. 3; AAK15273). regulation of cell growth integral to membrane|plasma membrane fibroblast growth factor receptor activity|heparin binding endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 13 OV - Ovarian serous cystadenocarcinoma(23;0.0158) TGCCGTGGCCCGTGGTCATCG 0.682000 47 30 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25327975 25327975 + RNA SNP T T G TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr15:25327975T>G ENST00000546682.1 + 0 188 SNORD116-16_ENST00000384533.1_RNA|SNHG14_ENST00000549804.2_RNA NR_003361.1 GAGTGAAAACTCTATACCGTC 0.478000 78 84 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25463617 25463617 + RNA SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr15:25463617C>T ENST00000424208.1 + 0 2900 SNHG14_ENST00000453082.2_RNA NR_003305.1 CTTGCTTTTCCTGGGCCAGTG 0.577000 11 11 0 0 1 0 0 SPPL2C 162540 broad.mit.edu 37 17 43923502 43923502 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr17:43923502C>T ENST00000329196.5 + 1 1247 c.1230C>T c.(1228-1230)ggC>ggT p.G410G MAPT-AS1_ENST00000579244.1_RNA|MAPT-AS1_ENST00000579599.1_RNA NM_175882.2 NP_787078.2 Q8IUH8 IMP5_HUMAN signal peptide peptidase like 2C 410 integral to membrane aspartic-type endopeptidase activity TTGCCTTGGGCCCTGCAGAGT 0.587000 25 39 0 0 1 0 0 TSHZ1 10194 broad.mit.edu 37 18 72998696 72998696 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr18:72998696C>T ENST00000322038.5 + 2 1783 c.1199C>T c.(1198-1200)aCc>aTc p.T400I TSHZ1_ENST00000580243.1_Missense_Mutation_p.T445I NM_005786.5 NP_005777.3 Q6ZSZ6 TSH1_HUMAN teashirt zinc finger homeobox 1 445 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2) 42 Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211) Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246) CTGAAAGTGACCACCTCGGCT 0.607000 23 34 0 0 1 0 0 ALPK3 57538 broad.mit.edu 37 15 85400580 85400580 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr15:85400580C>T ENST00000258888.5 + 6 3384 c.3217C>T c.(3217-3219)Cct>Tct p.P1073S NM_020778.4 NP_065829.3 Q96L96 ALPK3_HUMAN alpha-kinase 3 1073 heart development nucleus ATP binding|protein serine/threonine kinase activity NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 BRCA - Breast invasive adenocarcinoma(143;0.0587) GCCTTCTCTTCCTGGAACTGG 0.642000 9 19 0 0 1 0 0 ACACB 32 broad.mit.edu 37 12 109696852 109696852 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:109696852C>T ENST00000338432.7 + 47 6554 c.6435C>T c.(6433-6435)aaC>aaT p.N2145N ACACB_ENST00000543201.1_Silent_p.N811N|ACACB_ENST00000377854.5_Silent_p.N2075N|ACACB_ENST00000377848.3_Silent_p.N2145N O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 2145 Carboxyltransferase. acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) AGGACTTCAACCGGGAGAAGT 0.572000 83 98 0 0 1 0 0 PLIN4 729359 broad.mit.edu 37 19 4510789 4510789 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:4510789G>A ENST00000301286.3 - 3 3140 c.3141C>T c.(3139-3141)gcC>gcT p.A1047A NM_001080400.1 NP_001073869.1 Q96Q06 PLIN4_HUMAN perilipin 4 1047 lipid particle|plasma membrane NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2) 41 CCCAGGAGGTGGCGGGGGTAC 0.647000 29 35 0 0 1 0 0 PNPLA1 285848 broad.mit.edu 37 6 36259166 36259166 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:36259166C>T ENST00000394571.2 + 2 275 c.275C>T c.(274-276)cCg>cTg p.P92L PNPLA1_ENST00000312917.5_5'UTR|PNPLA1_ENST00000388715.3_5'UTR NM_001145717.1 NP_001139189.2 Q8N8W4 PLPL1_HUMAN patatin-like phospholipase domain containing 1 92 Patatin. lipid catabolic process hydrolase activity breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 22 CCCTTGTCCCCGTCCTGTAAG 0.577000 49 38 0 0 1 0 0 KHDRBS2 202559 broad.mit.edu 37 6 62611165 62611165 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:62611165G>A ENST00000281156.4 - 5 873 c.595C>T c.(595-597)Ccc>Tcc p.P199S NM_152688.2 NP_689901.2 Q5VWX1 KHDR2_HUMAN KH domain containing, RNA binding, signal transduction associated 2 199 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus SH3 domain binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 BRCA - Breast invasive adenocarcinoma(397;0.149) GGAGCTGTGGGAGCTATTCTG 0.408000 10 96 0 0 1 0 0 C5orf48 389320 broad.mit.edu 37 5 125968242 125968242 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:125968242G>A ENST00000357147.3 + 2 104 c.91G>A c.(91-93)Gaa>Aaa p.E31K NM_207408.1 NP_997291.1 Q6ZNM6 CE048_HUMAN chromosome 5 open reading frame 48 31 large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 7 CATCAGGTATGAAGAGATTCA 0.393000 15 23 0 0 1 0 0 COL3A1 1281 broad.mit.edu 37 2 189864581 189864581 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:189864581G>A ENST00000304636.3 + 32 2413 c.2243G>A c.(2242-2244)gGt>gAt p.G748D COL3A1_ENST00000317840.5_Missense_Mutation_p.G748D NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 748 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) GAACCAGGCGGTCCAGGTGCT 0.478000 8 7 0 0 1 0 0 PCDHB18P 54660 broad.mit.edu 37 5 140616288 140616288 + RNA SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:140616288C>T ENST00000526308.1 + 0 2351 NR_001281.1 endometrium(9)|lung(7)|ovary(1)|urinary_tract(1) 18 AGGGCGGCCTCGATGGGTCGC 0.647000 69 124 0 0 1 0 0 NBPF20 100288142 broad.mit.edu 37 1 148346680 148346680 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:148346680G>A ENST00000369202.1 - 2 274 c.77C>T c.(76-78)cCc>cTc p.P26L NBPF20_ENST00000414710.2_Missense_Mutation_p.P26L neuroblastoma breakpoint family, member 20 breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1) 27 TGCCAACTGGGGGCGCAATTT 0.502000 30 227 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90020788 90020788 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:90020788G>A ENST00000405460.2 + 46 9984 c.9888G>A c.(9886-9888)ggG>ggA p.G3296G NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 3296 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) GATGGCAGGGGATTTTTATTC 0.284000 11 14 0 0 1 0 0 ZBP1 81030 broad.mit.edu 37 20 56190614 56190614 + Silent SNP T T G TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr20:56190614T>G ENST00000371173.3 - 3 459 c.282A>C c.(280-282)gcA>gcC p.A94A ZBP1_ENST00000343535.4_Silent_p.A94A|ZBP1_ENST00000340462.4_Intron|ZBP1_ENST00000538947.1_5'UTR|ZBP1_ENST00000541799.1_Silent_p.A94A|ZBP1_ENST00000395822.3_Silent_p.A19A NM_001160417.1|NM_030776.2 NP_001153889.1|NP_110403.2 Q9H171 ZBP1_HUMAN Z-DNA binding protein 1 94 cytoplasm|nucleus double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1) 27 Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08) GAATTGTAGCTGCATGTTGCT 0.592000 29 75 0 0 1 0 0 FREM2 341640 broad.mit.edu 37 13 39422666 39422666 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr13:39422666C>T ENST00000280481.7 + 8 6454 c.6238C>T c.(6238-6240)Cgt>Tgt p.R2080C FREM2_ENST00000482551.1_3'UTR NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 2080 Calx-beta 3. cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) GCAGCCTGTTCGTGTTGTCAT 0.478000 44 98 0 0 1 0 0 NLRP2 55655 broad.mit.edu 37 19 55497622 55497622 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:55497622G>A ENST00000543010.1 + 8 2448 c.2305G>A c.(2305-2307)Gat>Aat p.D769N NLRP2_ENST00000537859.1_Missense_Mutation_p.D747N|NLRP2_ENST00000538819.1_Missense_Mutation_p.D745N|NLRP2_ENST00000263437.6_Missense_Mutation_p.D766N|NLRP2_ENST00000391721.4_Missense_Mutation_p.D745N|NLRP2_ENST00000448584.2_Missense_Mutation_p.D769N|NLRP2_ENST00000339757.7_Missense_Mutation_p.D747N|NLRP2_ENST00000427260.2_Missense_Mutation_p.D746N NM_001174081.1 NP_001167552.1 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 769 apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) TGACCAGGATGATATGTTTCC 0.438000 14 32 0 0 1 0 0 NACA 4666 broad.mit.edu 37 12 57112047 57112047 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:57112047G>A ENST00000454682.1 - 3 3548 c.3267C>T c.(3265-3267)tcC>tcT p.S1089S NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000550952.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 CTCCTTTTGGGGAGGGAGGAG 0.662000 T BCL6 NHL 28 47 0 0 1 0 0 KDM2B 84678 broad.mit.edu 37 12 121947466 121947466 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:121947466C>T ENST00000377069.4 - 11 1864 c.1458G>A c.(1456-1458)ctG>ctA p.L486L KDM2B_ENST00000542973.1_5'UTR|KDM2B_ENST00000536437.1_Silent_p.L400L|KDM2B_ENST00000377071.4_Silent_p.L517L|KDM2B_ENST00000538046.2_Silent_p.L427L NM_001005366.1 NP_001005366.1 Q8NHM5 KDM2B_HUMAN lysine (K)-specific demethylase 2B 517 embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 19 CCAGAGCTTTCAGGCCCTTCA 0.602000 42 34 0 0 1 0 0 CCDC108 255101 broad.mit.edu 37 2 219874667 219874667 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:219874667C>T ENST00000341552.5 - 27 4532 c.4449G>A c.(4447-4449)ggG>ggA p.G1483G AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000441968.1_Silent_p.G1483G|CCDC108_ENST00000453220.1_Silent_p.G1483G NM_194302.2 NP_919278.2 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 1483 integral to membrane structural molecule activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CTCTCACCTCCCCAAAATCTA 0.572000 12 21 0 0 1 0 0 ALDH4A1 8659 broad.mit.edu 37 1 19203940 19203940 + Silent SNP C C G TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:19203940C>G ENST00000375341.3 - 10 1364 c.1107G>C c.(1105-1107)ctG>ctC p.L369L ALDH4A1_ENST00000290597.5_Silent_p.L369L|RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000538839.1_Silent_p.L369L|ALDH4A1_ENST00000538309.1_Silent_p.L309L NM_003748.3 NP_003739.2 P30038 AL4A1_HUMAN aldehyde dehydrogenase 4 family, member A1 369 proline biosynthetic process|proline catabolic process mitochondrial matrix 1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1) 15 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) NADH(DB00157) TGTGCTCCTCCAGCAGCCGCC 0.682000 5 12 0 0 1 0 0 OR8B4 283162 broad.mit.edu 37 11 124294721 124294721 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:124294721C>T ENST00000356130.3 - 1 68 c.47G>A c.(46-48)gGa>gAa p.G16E NM_001005196.1 NP_001005196.1 Q96RC9 OR8B4_HUMAN olfactory receptor, family 8, subfamily B, member 4 16 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1) 32 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) TTCTGATAATCCCACAAGGAT 0.473000 23 26 0 0 1 0 0 ESR1 2099 broad.mit.edu 37 6 152415538 152415538 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:152415538C>T ENST00000440973.1 + 9 1758 c.1388C>T c.(1387-1389)tCc>tTc p.S463F ESR1_ENST00000406599.1_Missense_Mutation_p.S202F|ESR1_ENST00000338799.5_Missense_Mutation_p.S463F|ESR1_ENST00000443427.1_Missense_Mutation_p.S463F|ESR1_ENST00000206249.3_Missense_Mutation_p.S463F|ESR1_ENST00000544394.1_Intron|ESR1_ENST00000456483.2_Missense_Mutation_p.S351F NM_001122742.1 NP_001116214.1 P03372 ESR1_HUMAN estrogen receptor 1 463 Interaction with AKAP13.|Steroid-binding. positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus chromatin remodeling complex|cytoplasm|nucleoplasm beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1) 49 Ovarian(120;0.0448) BRCA - Breast invasive adenocarcinoma(37;0.0841) OV - Ovarian serous cystadenocarcinoma(155;4.55e-10) Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539) ACATTTCTGTCCAGCACCCTG 0.517000 42 100 0 0 1 0 0 TAS2R39 259285 broad.mit.edu 37 7 142880667 142880667 + Silent SNP T T C TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:142880667T>C ENST00000446620.1 + 1 156 c.156T>C c.(154-156)aaT>aaC p.N52N NM_176881.2 NP_795362.2 P59534 T2R39_HUMAN taste receptor, type 2, member 39 52 sensory perception of taste integral to membrane G-protein coupled receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 Melanoma(164;0.059) TCATTGCAAATGGTTTCATCA 0.413000 30 32 0 0 1 0 0 GLYCTK 132158 broad.mit.edu 37 3 52326387 52326387 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:52326387C>T ENST00000354773.4 + 4 737 c.641C>T c.(640-642)tCg>tTg p.S214L GLYCTK_ENST00000461183.1_Missense_Mutation_p.R189C|GLYCTK_ENST00000436784.2_Missense_Mutation_p.R273C|GLYCTK-AS1_ENST00000493616.1_RNA|GLYCTK_ENST00000305690.8_Missense_Mutation_p.R273C|GLYCTK_ENST00000477382.1_Missense_Mutation_p.S214L|GLYCTK_ENST00000473032.1_Intron|GLYCTK_ENST00000471180.1_Missense_Mutation_p.R146C NM_001144951.1 NP_001138423.1 Q8IVS8 GLCTK_HUMAN glycerate kinase 0 protein phosphorylation Golgi apparatus|mitochondrion ATP binding|glycerate kinase activity|protein binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1) 9 BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235) TATCCTCAATCGCTACGGCCT 0.607000 18 34 0 0 1 0 0 DCDC1 341019 broad.mit.edu 37 11 31312269 31312269 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:31312269G>A ENST00000597505.1 - 5 884 c.885C>T c.(883-885)gtC>gtT p.V295V DCDC1_ENST00000452803.1_Silent_p.V295V P59894 DCDC1_HUMAN doublecortin domain containing 1 295 intracellular signal transduction central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) ACAGAATTCGGACTGAGGTCC 0.373000 10 38 0 0 1 0 0 SOCS1 8651 broad.mit.edu 37 16 11348859 11348859 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr16:11348859G>A ENST00000332029.2 - 2 627 c.477C>T c.(475-477)cgC>cgT p.R159R RMI2_ENST00000572173.1_Intron NM_003745.1 NP_003736.1 O15524 SOCS1_HUMAN suppressor of cytokine signaling 1 159 SH2. interferon-gamma-mediated signaling pathway|JAK-STAT cascade|negative regulation of insulin receptor signaling pathway|negative regulation of tyrosine phosphorylation of Stat3 protein|regulation of growth|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytosol insulin-like growth factor receptor binding|protein kinase binding|protein kinase inhibitor activity p.F144fs*34(1)|p.Y64fs*1(1)|p.R127_*212del(1)|p.0?(1)|p.P158_M161del(1) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(66)|lung(3) 71 CCAGCATGCGGCGCGGCGCCG 0.731000 """F, O""" """Hodgkin Lymphoma, PMBL""" 5 16 0 0 1 0 0 CLPP 8192 broad.mit.edu 37 19 6368633 6368633 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:6368633C>T ENST00000245816.4 + 6 869 c.746C>T c.(745-747)cCc>cTc p.P249L CLPP_ENST00000596605.1_3'UTR|CLPP_ENST00000596149.1_Missense_Mutation_p.P162L NM_006012.2 NP_006003.1 Q16740 CLPP_HUMAN caseinolytic mitochondrial matrix peptidase proteolytic subunit 249 proteolysis mitochondrial matrix ATP binding|protein binding|serine-type endopeptidase activity endometrium(2)|large_intestine(2)|ovary(2) 6 GTCCACCCTCCCCAGGACGGT 0.632000 4 6 0 0 1 0 0 PCDHA9 9752 broad.mit.edu 37 5 140229243 140229243 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:140229243C>T ENST00000378122.3 + 1 1887 c.1163C>T c.(1162-1164)tCc>tTc p.S388F PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.S388F|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron NM_014005.3 NP_054724.1 breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 59 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTTACCTGCTCCCTGACGCCC 0.562000 41 76 0 0 1 0 0 ZC3H7B 23264 broad.mit.edu 37 22 41738568 41738568 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr22:41738568C>T ENST00000352645.4 + 12 1490 c.1233C>T c.(1231-1233)atC>atT p.I411I ZC3H7B_ENST00000351589.4_Silent_p.I411I NM_017590.4 NP_060060.3 Q9UGR2 Z3H7B_HUMAN zinc finger CCCH-type containing 7B 427 interspecies interaction between organisms nucleus nucleic acid binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 CCTTGCTCATCAAGAACCCCT 0.602000 27 19 0 0 1 0 0 SLC13A1 6561 broad.mit.edu 37 7 122759153 122759153 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:122759153G>A ENST00000194130.2 - 13 1533 c.1494C>T c.(1492-1494)ctC>ctT p.L498L SLC13A1_ENST00000539873.1_3'UTR NM_022444.3 NP_071889.2 Q9BZW2 S13A1_HUMAN solute carrier family 13 (sodium/sulfate symporter), member 1 498 integral to membrane|plasma membrane sodium:sulfate symporter activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 45 Succinic acid(DB00139) ATAATATTGGGAGAAAGAGTG 0.393000 15 20 0 0 1 0 0 NRG1 3084 broad.mit.edu 37 8 32621461 32621461 + Silent SNP G G A rs114216543 by1000genomes TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:32621461G>A ENST00000338921.4 + 13 2005 c.1488G>A c.(1486-1488)gaG>gaA p.E496E NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000405005.2_Silent_p.E488E|NRG1_ENST00000521670.1_3'UTR|NRG1_ENST00000287842.3_Silent_p.E485E|NRG1_ENST00000519301.1_Silent_p.E438E|NRG1_ENST00000287840.5_Silent_p.E488E|NRG1_ENST00000356819.4_Silent_p.E493E|NRG1_ENST00000287845.5_Silent_p.E459E|NRG1_ENST00000539990.1_Silent_p.E331E Q02297 NRG1_HUMAN neuregulin 1 488 activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1) 39 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) GGCTGCGGGAGAAGAAGTTTG 0.577000 18 63 0 0 1 0 0 ADAMTS19 171019 broad.mit.edu 37 5 128956429 128956429 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:128956429G>A ENST00000274487.4 + 9 1724 c.1579G>A c.(1579-1581)Gaa>Aaa p.E527K CTC-575N7.1_ENST00000503616.1_RNA NM_133638.3 NP_598377.3 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 19 527 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) ATGTAGCAAGGAAGATTTGGA 0.403000 77 83 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13886118 13886118 + Nonsense_Mutation SNP T T A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:13886118T>A ENST00000265104.4 - 18 2802 c.2698A>T c.(2698-2700)Aaa>Taa p.K900* CTB-51A17.1_ENST00000503244.1_RNA NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 900 Stem (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) TTGGATATTTTTTCACTTTCT 0.318000 Kartagener syndrome 13 10 0 0 1 0 0 IGHG1 3500 broad.mit.edu 37 14 106204046 106204046 + RNA SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr14:106204046C>T ENST00000390548.2 - 0 1252 GAGCATGGCCCATGGCTGGTG 0.667000 25 2 0 0 1 0 0 UBL7 84993 broad.mit.edu 37 15 74742405 74742405 + Missense_Mutation SNP A A C TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr15:74742405A>C ENST00000567435.1 - 7 999 c.536T>G c.(535-537)gTg>gGg p.V179G UBL7_ENST00000564488.1_Missense_Mutation_p.V179G|UBL7_ENST00000361351.4_Missense_Mutation_p.V179G|UBL7_ENST00000565335.1_Missense_Mutation_p.V179G|UBL7_ENST00000395081.2_Missense_Mutation_p.V179G Q96S82 UBL7_HUMAN ubiquitin-like 7 (bone marrow stromal cell-derived) 179 protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1) 9 GTGAGCAGGCACCAACCTAGG 0.577000 4 10 0 0 1 0 0 PLEKHM1P 440456 broad.mit.edu 37 17 62820837 62820837 + RNA SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr17:62820837G>A ENST00000582986.1 - 0 188 NR_024386.1 GCCTCAGCTCGGATGTGCTTG 0.582000 13 13 0 0 1 0 0 SP140 11262 broad.mit.edu 37 2 231159024 231159024 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:231159024G>A ENST00000392045.3 + 21 2121 c.2007G>A c.(2005-2007)agG>agA p.R669R SP140_ENST00000350136.5_Silent_p.R538R|SP140_ENST00000417495.3_Silent_p.R555R|SP140_ENST00000420434.3_Silent_p.R642R|SP140_ENST00000343805.6_Silent_p.R609R|SP140_ENST00000486687.2_Silent_p.R593R NM_007237.4 NP_009168.4 Q13342 LY10_HUMAN SP140 nuclear body protein 669 defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) TACGTTACAGGAAAAAAAAGG 0.373000 7 15 0 0 1 0 0 SLC39A3 29985 broad.mit.edu 37 19 2733091 2733091 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:2733091G>A ENST00000269740.4 - 3 932 c.603C>T c.(601-603)ttC>ttT p.F201F SLC39A3_ENST00000545664.1_Silent_p.F201F|AC006538.4_ENST00000586572.1_Intron NM_144564.4 NP_653165.2 Q9BRY0 S39A3_HUMAN solute carrier family 39 (zinc transporter), member 3 201 integral to membrane|plasma membrane zinc ion transmembrane transporter activity endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 10 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) CCACCCCCACGAACAGGCTCA 0.706000 47 72 0 0 1 0 0 CYP7B1 9420 broad.mit.edu 37 8 65528648 65528648 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:65528648C>T ENST00000310193.3 - 3 623 c.450G>A c.(448-450)ttG>ttA p.L150L NM_004820.3 NP_004811.1 O75881 CP7B1_HUMAN cytochrome P450, family 7, subfamily B, polypeptide 1 150 bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215) AGAGTATGTCCAAAGATTTGC 0.373000 13 27 0 0 1 0 0 CEACAM21 90273 broad.mit.edu 37 19 42083780 42083780 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:42083780G>A ENST00000187608.9 + 2 333 c.293G>A c.(292-294)cGa>cAa p.R98Q CEACAM21_ENST00000401445.2_Missense_Mutation_p.R98Q|CEACAM21_ENST00000407170.2_5'UTR|CEACAM21_ENST00000482870.2_3'UTR NM_001098506.1|NM_033543.3 NP_001091976.1|NP_291021.2 Q3KPI0 CEA21_HUMAN carcinoembryonic antigen-related cell adhesion molecule 21 98 integral to membrane endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1) 13 TACAGCGGTCGAGAGACAATA 0.488000 21 30 0 0 1 0 0 SLC4A5 57835 broad.mit.edu 37 2 74462256 74462256 + Missense_Mutation SNP G G A rs144083187 TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:74462256G>A ENST00000394019.2 - 22 2802 c.2405C>T c.(2404-2406)cCc>cTc p.P802L SLC4A5_ENST00000346834.4_Missense_Mutation_p.P802L|SLC4A5_ENST00000359484.4_Intron|SLC4A5_ENST00000377632.1_Missense_Mutation_p.P802L|SLC4A5_ENST00000377634.4_Missense_Mutation_p.P802L|SLC4A5_ENST00000358683.4_Intron|SLC4A5_ENST00000423644.1_Missense_Mutation_p.P802L|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000357822.5_Missense_Mutation_p.P802L|RP11-287D1.3_ENST00000451608.2_3'UTR NM_133478.2 NP_597812.1 Q9BY07 S4A5_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 5 802 apical plasma membrane|integral to membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 ATGCAGCTTGGGAGTTTCTAG 0.547000 12 26 0 0 1 0 0 VWA2 340706 broad.mit.edu 37 10 116014795 116014795 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr10:116014795C>T ENST00000603594.1 + 4 570 c.249C>T c.(247-249)atC>atT p.I83I VWA2_ENST00000392982.3_Silent_p.I83I NM_001272046.1 NP_001258975.1 Q5GFL6 VWA2_HUMAN von Willebrand factor A domain containing 2 83 VWFA 1. extracellular region central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1) 26 Epithelial(162;0.036)|all cancers(201;0.0793) GTCTGGACATCAGCCCCGAGA 0.517000 58 34 0 0 1 0 0 RIMBP2 23504 broad.mit.edu 37 12 130935880 130935880 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:130935880C>T ENST00000261655.4 - 5 476 c.313G>A c.(313-315)Gag>Aag p.E105K RIMBP2_ENST00000536002.1_Missense_Mutation_p.E13K|RIMBP2_ENST00000535703.1_Missense_Mutation_p.E13K NM_015347.4 NP_056162.4 O15034 RIMB2_HUMAN RIMS binding protein 2 105 cell junction|synapse NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) ATAGCGCTCTCCTGACCTGGC 0.562000 20 19 0 0 1 0 0 MIP 4284 broad.mit.edu 37 12 56848293 56848293 + Silent SNP A A T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:56848293A>T ENST00000257979.4 - 1 133 c.105T>A c.(103-105)gcT>gcA p.A35A MIP_ENST00000555551.1_Intron NM_012064.3 NP_036196.1 P30301 MIP_HUMAN major intrinsic protein of lens fiber 35 response to stimulus|visual perception gap junction|integral to plasma membrane structural constituent of eye lens kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|urinary_tract(1) 16 GGGGTCCAGGAGCCCAGCGCA 0.582000 15 68 0 0 1 0 0 BRD8 10902 broad.mit.edu 37 5 137500059 137500059 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:137500059G>A ENST00000254900.5 - 13 2146 c.1775C>T c.(1774-1776)cCc>cTc p.P592L BRD8_ENST00000411594.2_Missense_Mutation_p.P595L|BRD8_ENST00000402931.1_Missense_Mutation_p.P592L|BRD8_ENST00000230901.5_Missense_Mutation_p.P665L|BRD8_ENST00000455658.2_Missense_Mutation_p.P551L|BRD8_ENST00000515014.1_5'UTR NM_139199.1 NP_631938.1 Q9H0E9 BRD8_HUMAN bromodomain containing 8 592 cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter mitochondrion|NuA4 histone acetyltransferase complex sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1) 35 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) ATCTTCAATGGGATTTGAGCC 0.408000 31 50 0 0 1 0 0 NYAP1 222950 broad.mit.edu 37 7 100086477 100086477 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:100086477G>A ENST00000423930.1 + 4 1292 c.1133G>A c.(1132-1134)cGg>cAg p.R378Q NYAP1_ENST00000300179.2_Missense_Mutation_p.R378Q|NYAP1_ENST00000454988.1_Missense_Mutation_p.R321Q Q6ZVC0 CG051_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 378 Pro-rich. GTGCCTGCACGGGAGCGGGAG 0.697000 22 49 0 0 1 0 0 DSCAML1 57453 broad.mit.edu 37 11 117391964 117391964 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:117391964C>T ENST00000321322.6 - 6 1275 c.1274G>A c.(1273-1275)gGg>gAg p.G425E DSCAML1_ENST00000527706.1_Missense_Mutation_p.G155E NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 365 Ig-like C2-type 5. 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) GTTGCTGAGCCCGCGGATGGA 0.642000 61 94 0 0 1 0 0 C6 729 broad.mit.edu 37 5 41161821 41161821 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:41161821C>T ENST00000263413.3 - 10 1696 c.1432G>A c.(1432-1434)Gaa>Aaa p.E478K C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Missense_Mutation_p.E478K NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 478 MACPF. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) GCAGGATTTTCCTTCACTGAT 0.428000 41 92 0 0 1 0 0 EGFLAM 133584 broad.mit.edu 37 5 38427202 38427202 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:38427202C>T ENST00000322350.5 + 14 2248 c.1902C>T c.(1900-1902)ttC>ttT p.F634F EGFLAM_ENST00000354891.3_Silent_p.F634F|EGFLAM_ENST00000397202.2_5'UTR|EGFLAM_ENST00000336740.6_Silent_p.F400F|EGFLAM-AS1_ENST00000508986.1_RNA NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 634 Laminin G-like 2. cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) ACCTTTCCTTCATGGAATTTG 0.493000 52 132 0 0 1 0 0 PTPRK 5796 broad.mit.edu 37 6 128307008 128307008 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:128307008C>T ENST00000368227.3 - 23 3526 c.3160G>A c.(3160-3162)Gaa>Aaa p.E1054K PTPRK_ENST00000368210.3_Missense_Mutation_p.E1055K|PTPRK_ENST00000368207.3_Missense_Mutation_p.E1069K|PTPRK_ENST00000368226.4_Missense_Mutation_p.E1037K|PTPRK_ENST00000532331.1_Missense_Mutation_p.E1059K|PTPRK_ENST00000368213.5_Missense_Mutation_p.E1043K|PTPRK_ENST00000368215.3_Missense_Mutation_p.E1036K Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 1036 Tyrosine-protein phosphatase 1. cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity PTPRK/RSPO3(10) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) TCACGGATTTCATTGTACCCC 0.443000 16 35 0 0 1 0 0 OR5M1 390168 broad.mit.edu 37 11 56380921 56380921 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:56380921C>T ENST00000526538.1 - 1 57 c.58G>A c.(58-60)Gac>Aac p.D20N NM_001004740.1 NP_001004740.1 Q8NGP8 OR5M1_HUMAN olfactory receptor, family 5, subfamily M, member 1 20 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.D20N(1) central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1) 12 AGCACTGGGTCGTCTGTCAGT 0.458000 43 51 0 0 1 0 0 FFAR3 2865 broad.mit.edu 37 19 35849901 35849901 + Missense_Mutation SNP G G T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:35849901G>T ENST00000327809.4 + 2 310 c.109G>T c.(109-111)Gtg>Ttg p.V37L FFAR3_ENST00000594310.1_Missense_Mutation_p.V37L NM_005304.3 NP_005295.1 O14843 FFAR3_HUMAN free fatty acid receptor 3 37 integral to plasma membrane G-protein coupled receptor activity|lipid binding endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1) 17 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221) GCTGGCCCTGGTGGTCTTCGT 0.642000 48 175 2.48254e-18 2.51445e-18 1 1 0 SEC31B 25956 broad.mit.edu 37 10 102262131 102262131 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr10:102262131G>A ENST00000370345.3 - 11 1387 c.1290C>T c.(1288-1290)ttC>ttT p.F430F SEC31B_ENST00000451524.1_Silent_p.F430F NM_015490.3 NP_056305.1 Q9NQW1 SC31B_HUMAN SEC31 homolog B (S. cerevisiae) 430 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1) 36 Colorectal(252;0.117) Epithelial(162;2.36e-10)|all cancers(201;2.09e-08) ATCGCATCAGGAATTCAGATT 0.517000 21 26 0 0 1 0 0 SCN5A 6331 broad.mit.edu 37 3 38622577 38622577 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:38622577C>T ENST00000413689.1 - 17 3266 c.3073G>A c.(3073-3075)Gaa>Aaa p.E1025K SCN5A_ENST00000425664.1_Missense_Mutation_p.E1025K|SCN5A_ENST00000443581.1_Missense_Mutation_p.E1025K|SCN5A_ENST00000414099.2_Missense_Mutation_p.E1025K|SCN5A_ENST00000450102.2_Missense_Mutation_p.E1025K|SCN5A_ENST00000455624.2_Missense_Mutation_p.E1025K|SCN5A_ENST00000449557.2_Missense_Mutation_p.E1025K|SCN5A_ENST00000423572.2_Missense_Mutation_p.E1025K|SCN5A_ENST00000451551.2_Missense_Mutation_p.E1025K|SCN5A_ENST00000333535.4_Missense_Mutation_p.E1025K NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 1025 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) AACCGTGTTTCCTTGCGGGTG 0.682000 8 28 0 0 1 0 0 C14orf177 283598 broad.mit.edu 37 14 99182645 99182645 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr14:99182645G>A ENST00000325812.2 + 3 536 c.117G>A c.(115-117)ggG>ggA p.G39G NM_182560.2 NP_872366.2 Q52M58 CN177_HUMAN chromosome 14 open reading frame 177 39 endometrium(1)|kidney(1)|large_intestine(1)|lung(10) 13 Melanoma(154;0.128) TTGGTGAAGGGAAATGCCCAA 0.552000 25 7 0 0 1 0 0 RGPD3 653489 broad.mit.edu 37 2 107029606 107029606 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:107029606G>A ENST00000409886.3 - 22 5287 c.5200C>T c.(5200-5202)Cct>Tct p.P1734S RGPD3_ENST00000304514.7_Missense_Mutation_p.P1734S NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 1734 GRIP. intracellular transport binding breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 TTTATAACAGGAAGAAGTCTC 0.448000 62 92 0 0 1 0 0 OR4K2 390431 broad.mit.edu 37 14 20345121 20345121 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr14:20345121G>A ENST00000298642.2 + 1 731 c.695G>A c.(694-696)gGa>gAa p.G232E NM_001005501.1 NP_001005501.1 Q8NGD2 OR4K2_HUMAN olfactory receptor, family 4, subfamily K, member 2 232 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TCTTCCAGAGGATCATCTAAG 0.383000 65 39 0 0 1 0 0 PNLDC1 154197 broad.mit.edu 37 6 160239611 160239611 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:160239611C>T ENST00000275275.5 + 16 1320 c.1149C>T c.(1147-1149)tcC>tcT p.S383S PNLDC1_ENST00000392167.3_Silent_p.S394S NM_001271862.1|NM_173516.1 NP_001258791.1|NP_775787.1 Q8NA58 PNDC1_HUMAN poly(A)-specific ribonuclease (PARN)-like domain containing 1 383 integral to membrane|nucleus nucleic acid binding autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 31 Breast(66;0.00519)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) CCGAGTCATCCTTTCCTCAGT 0.567000 15 74 0 0 1 0 0 DYSF 8291 broad.mit.edu 37 2 71901333 71901333 + Missense_Mutation SNP T T C TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:71901333T>C ENST00000258104.3 + 51 5951 c.5674T>C c.(5674-5676)Ttc>Ctc p.F1892L DYSF_ENST00000409582.3_Missense_Mutation_p.F1930L|DYSF_ENST00000409744.1_Missense_Mutation_p.F1900L|DYSF_ENST00000409651.1_Missense_Mutation_p.F1924L|DYSF_ENST00000429174.2_Missense_Mutation_p.F1913L|DYSF_ENST00000413539.2_Missense_Mutation_p.F1923L|DYSF_ENST00000410020.3_Missense_Mutation_p.F1931L|DYSF_ENST00000410041.1_Missense_Mutation_p.F1910L|DYSF_ENST00000409762.1_Missense_Mutation_p.F1909L|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409366.1_Missense_Mutation_p.F1914L|DYSF_ENST00000394120.2_Missense_Mutation_p.F1893L NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 1892 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 TCAGGATGCCTTCTGGAGGCT 0.532000 22 33 0 0 1 0 0 ERCC6-PGBD3 101243544 broad.mit.edu 37 10 50724338 50724338 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr10:50724338G>A ENST00000515869.1 - 6 2347 c.2227C>T c.(2227-2229)Cct>Tct p.P743S ERCC6_ENST00000355832.5_Intron|PGBD3_ENST00000374127.3_Missense_Mutation_p.P275S|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.P743S|PGBD3_ENST00000603152.1_Missense_Mutation_p.P743S|PGBD3_ENST00000508005.2_Missense_Mutation_p.P275S NM_001277059.1 NP_001263988.1 CCAAAATAAGGAACCATGAAT 0.398000 9 10 0 0 1 0 0 HIVEP3 59269 broad.mit.edu 37 1 42045560 42045560 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:42045560G>A ENST00000372584.1 - 3 5923 c.4909C>T c.(4909-4911)Ccc>Tcc p.P1637S HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000429157.2_Missense_Mutation_p.P1637S|HIVEP3_ENST00000372583.1_Missense_Mutation_p.P1637S|HIVEP3_ENST00000247584.5_Missense_Mutation_p.P1637S NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 1637 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) GGAAGGTTGGGGTTGTACAAA 0.483000 14 76 0 0 1 0 0 CCDC33 80125 broad.mit.edu 37 15 74573043 74573043 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr15:74573043C>T ENST00000321288.5 + 11 1533 c.1533C>T c.(1531-1533)ccC>ccT p.P511P CCDC33_ENST00000398814.3_Silent_p.P308P Q8N5R6 CCD33_HUMAN coiled-coil domain containing 33 511 protein binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 TCAACCAGCCCCTGGGCATCT 0.597000 29 76 0 0 1 0 0 SIM1 6492 broad.mit.edu 37 6 100838605 100838605 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:100838605C>T ENST00000369208.3 - 12 2715 c.1933G>A c.(1933-1935)Gaa>Aaa p.E645K SIM1_ENST00000262901.4_Missense_Mutation_p.E645K P81133 SIM1_HUMAN single-minded family bHLH transcription factor 1 645 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 79 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) TAGTCATTTTCATGGGGGCTC 0.478000 33 185 0 0 1 0 0 BTK 695 broad.mit.edu 37 X 100630261 100630261 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chrX:100630261C>T ENST00000308731.7 - 2 175 c.12G>A c.(10-12)gtG>gtA p.V4V BTK_ENST00000464567.1_5'UTR|BTK_ENST00000372880.1_Silent_p.V4V NM_000061.2 NP_000052.1 Q06187 BTK_HUMAN Bruton agammaglobulinemia tyrosine kinase 4 PH. calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development cytosol|membrane raft|nucleus|plasma membrane ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 TCTCCAGAATCACTGCGGCCA 0.458000 Agammaglobulinemia, X-linked 55 17 0 0 1 0 0 ZNF711 7552 broad.mit.edu 37 X 84526289 84526289 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chrX:84526289C>T ENST00000360700.4 + 10 2765 c.1879C>T c.(1879-1881)Ctg>Ttg p.L627L ZNF711_ENST00000276123.3_Silent_p.L581L|ZNF711_ENST00000395402.1_Silent_p.L589L|ZNF711_ENST00000373165.3_Silent_p.L581L|ZNF711_ENST00000542798.1_Silent_p.L423L Q9Y462 ZN711_HUMAN zinc finger protein 711 581 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4) 28 TCAACGCCATCTGGATTTGTT 0.418000 10 2 0 0 1 0 0 LPHN2 23266 broad.mit.edu 37 1 82432220 82432220 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:82432220C>T ENST00000370728.1 + 15 2909 c.2264C>T c.(2263-2265)tCa>tTa p.S755L LPHN2_ENST00000359929.3_Missense_Mutation_p.S742L|LPHN2_ENST00000271029.4_Missense_Mutation_p.S755L|LPHN2_ENST00000370725.1_Missense_Mutation_p.S755L|LPHN2_ENST00000370727.1_Missense_Mutation_p.S755L|LPHN2_ENST00000319517.6_Missense_Mutation_p.S742L|LPHN2_ENST00000394879.1_Missense_Mutation_p.S742L|LPHN2_ENST00000370723.1_Missense_Mutation_p.S742L|LPHN2_ENST00000370721.1_Missense_Mutation_p.S680L|LPHN2_ENST00000370713.1_Missense_Mutation_p.S742L|LPHN2_ENST00000335786.5_Missense_Mutation_p.S755L|LPHN2_ENST00000370717.2_Missense_Mutation_p.S755L|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370715.1_Missense_Mutation_p.S742L|LPHN2_ENST00000370730.1_Missense_Mutation_p.S755L O95490 LPHN2_HUMAN latrophilin 2 755 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding p.S755L(1)|p.S742L(1) NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) CACGTCATTTCAGTTTCAATC 0.403000 27 137 0 0 1 0 0 SND1 27044 broad.mit.edu 37 7 127569268 127569268 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:127569268C>T ENST00000354725.3 + 15 1749 c.1555C>T c.(1555-1557)Cct>Tct p.P519S NM_014390.2 NP_055205.2 Q7KZF4 SND1_HUMAN staphylococcal nuclease and tudor domain containing 1 519 gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent melanosome|nucleus|RNA-induced silencing complex nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 41 GCAGTTCCTGCCTTTTCTTCA 0.428000 45 57 0 0 1 0 0 ERI1 90459 broad.mit.edu 37 8 8887305 8887305 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:8887305C>T ENST00000523898.1 + 8 1490 c.811C>T c.(811-813)Cct>Tct p.P271S ERI1_ENST00000250263.7_Missense_Mutation_p.P271S|ERI1_ENST00000519292.1_Missense_Mutation_p.P271S|ERI1_ENST00000520332.1_Intron Q8IV48 ERI1_HUMAN exoribonuclease 1 271 Exonuclease. gene silencing by RNA|rRNA 3'-end processing cytoplasm|histone pre-mRNA 3'end processing complex|nucleolus 3'-5' exonuclease activity|histone pre-mRNA stem-loop binding|metal ion binding|ribosome binding|rRNA binding NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1) 11 Adenosine monophosphate(DB00131) TTTTCAGGTTCCTAGAAGCCA 0.353000 20 32 0 0 1 0 0 LZTS3 9762 broad.mit.edu 37 20 3145151 3145151 + Missense_Mutation SNP C C A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr20:3145151C>A ENST00000329152.3 - 3 3368 c.1971G>T c.(1969-1971)aaG>aaT p.K657N LZTS3_ENST00000360342.3_Missense_Mutation_p.K611N|LZTS3_ENST00000337576.5_Missense_Mutation_p.K611N NM_014731.2 NP_055546.1 TCCAGGCCTTCTTCTCCTCGC 0.637000 17 43 4.7546e-09 4.79024e-09 1 1 0 LRP2 4036 broad.mit.edu 37 2 170058150 170058150 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:170058150C>T ENST00000263816.3 - 44 8725 c.8440G>A c.(8440-8442)Gag>Aag p.E2814K NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 2814 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) CAATTTTTCTCATCTGAAGTG 0.368000 19 32 0 0 1 0 0 MUC7 4589 broad.mit.edu 37 4 71347402 71347402 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr4:71347402C>T ENST00000413702.1 + 4 1229 c.941C>T c.(940-942)tCc>tTc p.S314F MUC7_ENST00000456088.1_Missense_Mutation_p.S314F|MUC7_ENST00000304887.5_Missense_Mutation_p.S314F NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 314 Thr-rich. extracellular region protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) CCTAATTCTTCCCCAACTACT 0.512000 146 86 0 0 1 0 0 COL4A3BP 10087 broad.mit.edu 37 5 74677788 74677788 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:74677788G>A ENST00000380494.5 - 16 2280 c.1987C>T c.(1987-1989)Cat>Tat p.H663Y COL4A3BP_ENST00000508692.1_5'UTR|COL4A3BP_ENST00000261415.7_Missense_Mutation_p.H509Y|COL4A3BP_ENST00000405807.4_Missense_Mutation_p.H535Y NM_001130105.1 NP_001123577.1 Q9Y5P4 C43BP_HUMAN collagen, type IV, alpha 3 (Goodpasture antigen) binding protein 535 ER to Golgi ceramide transport|immune response cytosol|endoplasmic reticulum membrane|Golgi apparatus ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1) 16 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174) OV - Ovarian serous cystadenocarcinoma(47;1e-53) GCACTGTCATGATCCACAGAA 0.343000 10 12 0 0 1 0 0 PYROXD1 79912 broad.mit.edu 37 12 21614955 21614955 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:21614955C>T ENST00000538582.1 + 9 1434 c.681C>T c.(679-681)gtC>gtT p.V227V PYROXD1_ENST00000545178.1_3'UTR|PYROXD1_ENST00000240651.9_Silent_p.V298V Q8WU10 PYRD1_HUMAN pyridine nucleotide-disulphide oxidoreductase domain 1 298 oxidoreductase activity endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1) 18 TGTGGCCTGTCTATGTGGAAT 0.368000 7 29 0 0 1 0 0 TOP3A 7156 broad.mit.edu 37 17 18181326 18181326 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr17:18181326G>A ENST00000321105.5 - 18 2704 c.2490C>T c.(2488-2490)aaC>aaT p.N830N TOP3A_ENST00000542570.1_Silent_p.N735N|TOP3A_ENST00000540524.1_Silent_p.N360N NM_004618.3 NP_004609.1 Q13472 TOP3A_HUMAN topoisomerase (DNA) III alpha 830 2 X 27 AA approximate repeats. DNA topological change|meiosis chromosome|PML body ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1) 36 GCCGGCCCCGGTTGGGGCCCT 0.617000 48 17 0 0 1 0 0 HEPHL1 341208 broad.mit.edu 37 11 93800916 93800916 + Splice_Site SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:93800916G>A ENST00000315765.9 + 5 1071 c.1063_splice c.e5+1 p.A355_splice NM_001098672.1 NP_001092142.1 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 355 Plastocyanin-like 2. copper ion transport integral to membrane copper ion binding|oxidoreductase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 61 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) CCACCTACAAGGTAAAAAGGA 0.453000 11 24 0 0 1 0 0 HMGCLL1 54511 broad.mit.edu 37 6 55378918 55378918 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:55378918G>A ENST00000398661.2 - 6 691 c.560C>T c.(559-561)tCc>tTc p.S187F HMGCLL1_ENST00000508459.1_Intron|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.S157F|HMGCLL1_ENST00000308161.4_Missense_Mutation_p.S125F|HMGCLL1_ENST00000428842.1_Missense_Mutation_p.S125F|HMGCLL1_ENST00000370850.2_Intron NM_019036.2 NP_061909.2 Q8TB92 HMGC2_HUMAN 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1 187 hydroxymethylglutaryl-CoA lyase activity|metal ion binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 31 Lung NSC(77;0.0875) LUSC - Lung squamous cell carcinoma(124;0.23) TTCTTCAATGGAACAGTTAAT 0.368000 16 43 0 0 1 0 0 UBE2O 63893 broad.mit.edu 37 17 74392713 74392713 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr17:74392713G>A ENST00000319380.7 - 14 2369 c.2305C>T c.(2305-2307)Cct>Tct p.P769S NM_022066.3 NP_071349.3 Q9C0C9 UBE2O_HUMAN ubiquitin-conjugating enzyme E2O 769 ATP binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 TTGTCCTCAGGGGCCACCGGC 0.652000 68 88 0 0 1 0 0 DCC 1630 broad.mit.edu 37 18 50278490 50278490 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr18:50278490G>A ENST00000442544.2 + 2 774 c.158G>A c.(157-159)cGg>cAg p.R53Q NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 53 Ig-like C2-type 1. 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) GTCACAATGCGGGGAGGAAAT 0.502000 25 27 0 0 1 0 0 KEL 3792 broad.mit.edu 37 7 142651457 142651457 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:142651457G>A ENST00000355265.2 - 8 1212 c.738C>T c.(736-738)atC>atT p.I246I KEL_ENST00000479768.2_5'UTR NM_000420.2 NP_000411.1 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 246 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) ATTCCCGAAAGATCTGGAGGA 0.532000 25 37 0 0 1 0 0 OR51M1 390059 broad.mit.edu 37 11 5410947 5410947 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:5410947G>A ENST00000328611.3 + 1 341 c.319G>A c.(319-321)Gga>Aga p.G107R HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron NM_001004756.2 NP_001004756.2 B2RNI9 B2RNI9_HUMAN olfactory receptor, family 51, subfamily M, member 1 107 integral to membrane olfactory receptor activity NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1) 30 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TATCTACTTTGGAGCGTGTCA 0.512000 76 119 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 3224583 3224583 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:3224583G>A ENST00000602557.1 - 21 3644 c.3089C>T c.(3088-3090)tCg>tTg p.S1030L CSMD1_ENST00000602723.1_Missense_Mutation_p.S1030L|CSMD1_ENST00000520002.1_Missense_Mutation_p.S1030L|CSMD1_ENST00000542608.1_Missense_Mutation_p.S1029L|CSMD1_ENST00000400186.3_Missense_Mutation_p.S1030L|CSMD1_ENST00000539096.1_Missense_Mutation_p.S1029L|CSMD1_ENST00000537824.1_Missense_Mutation_p.S1029L Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 1030 CUB 6. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GCCCTCGTACGAAATTGAGAA 0.468000 10 17 0 0 1 0 0 MROH2B 133558 broad.mit.edu 37 5 41010076 41010076 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:41010076G>A ENST00000399564.4 - 31 3691 c.3241C>T c.(3241-3243)Cac>Tac p.H1081Y MROH2B_ENST00000506092.2_Missense_Mutation_p.H636Y NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B GTATCCATGTGAAAGCTGGCT 0.438000 16 45 0 0 1 0 0 MROH7 374977 broad.mit.edu 37 1 55167785 55167785 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:55167785C>T ENST00000414150.2 + 20 3586 c.3308C>T c.(3307-3309)tCc>tTc p.S1103F MROH7_ENST00000421030.2_Missense_Mutation_p.S1103F|MROH7_ENST00000409996.1_Missense_Mutation_p.S671F|MROH7_ENST00000454855.2_Missense_Mutation_p.S621F maestro heat-like repeat family member 7 p.S1103F(1)|p.S1100F(1) GTGCGCTCCTCCTGCATCAAC 0.622000 23 12 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 2944702 2944702 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:2944702C>T ENST00000602557.1 - 50 7949 c.7394G>A c.(7393-7395)cGa>cAa p.R2465Q CSMD1_ENST00000602723.1_Missense_Mutation_p.R2465Q|CSMD1_ENST00000520002.1_Missense_Mutation_p.R2465Q|CSMD1_ENST00000542608.1_Missense_Mutation_p.R2464Q|CSMD1_ENST00000400186.3_Missense_Mutation_p.R2465Q|CSMD1_ENST00000537824.1_Missense_Mutation_p.R2464Q Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 2465 Sushi 14. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GCCGACCATTCGGTATCCAGG 0.517000 21 40 0 0 1 0 0 DCST2 127579 broad.mit.edu 37 1 155005955 155005955 + Nonsense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:155005955G>A ENST00000368424.3 - 1 281 c.223C>T c.(223-225)Cag>Tag p.Q75* DCST2_ENST00000295536.5_Nonsense_Mutation_p.Q75* NM_144622.2 NP_653223.2 Q5T1A1 DCST2_HUMAN DC-STAMP domain containing 2 75 integral to membrane breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1) 38 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) GCTCGGACCTGGCGAGAGAAT 0.657000 66 40 0 0 1 0 0 CXCR5 643 broad.mit.edu 37 11 118764554 118764554 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:118764554G>A ENST00000292174.4 + 2 477 c.301G>A c.(301-303)Gtc>Atc p.V101I NM_001716.4|NM_032966.2 NP_001707.1|NP_116743.1 P32302 CXCR5_HUMAN chemokine (C-X-C motif) receptor 5 101 B cell activation|cellular component movement integral to plasma membrane C-X-C chemokine receptor activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.62e-05) CCTCCTGCTGGTCTTCATCTT 0.617000 37 43 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82546104 82546104 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:82546104G>A ENST00000423517.2 - 7 11535 c.11198C>T c.(11197-11199)tCc>tTc p.S3733F PCLO_ENST00000333891.8_Missense_Mutation_p.S3733F|PCLO_ENST00000437081.1_Missense_Mutation_p.S453F NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3664 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 AGTTCCTGTGGAAATCTCCTC 0.443000 36 43 0 0 1 0 0 KCNQ1 3784 broad.mit.edu 37 11 2683248 2683248 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:2683248G>A ENST00000155840.5 + 11 1559 c.1451G>A c.(1450-1452)aGc>aAc p.S484N KCNQ1OT1_ENST00000597346.1_RNA|KCNQ1_ENST00000335475.5_Missense_Mutation_p.S357N NM_000218.2 NP_000209.2 P51787 KCNQ1_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 1 484 blood circulation|membrane depolarization|muscle contraction|sensory perception of sound delayed rectifier potassium channel activity|protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2) 21 all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159) BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131) Bepridil(DB01244)|Indapamide(DB00808) AGAACCAACAGCTTCGCCGAG 0.577000 68 84 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577099 7577099 + Missense_Mutation SNP C C T rs121912660 TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr17:7577099C>T ENST00000420246.2 - 8 971 c.839G>A c.(838-840)aGa>aAa p.R280K TP53_ENST00000359597.4_Missense_Mutation_p.R280K|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R280K|TP53_ENST00000269305.4_Missense_Mutation_p.R280K|TP53_ENST00000455263.2_Missense_Mutation_p.R280K NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 280 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; 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.R280T(65)|p.R280K(49)|p.R280I(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.D281fs*24(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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) GCGCCGGTCTCTCCCAGGACA 0.542000 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) 19 5 0 0 1 0 0 NFASC 23114 broad.mit.edu 37 1 204957842 204957842 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:204957842C>T ENST00000367172.4 + 25 3324 c.2996C>T c.(2995-2997)cCc>cTc p.P999L NFASC_ENST00000404076.1_Missense_Mutation_p.P978L|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000401399.1_Missense_Mutation_p.P892L|NFASC_ENST00000338586.6_Missense_Mutation_p.P999L|NFASC_ENST00000404907.1_Missense_Mutation_p.P995L|NFASC_ENST00000338515.6_Missense_Mutation_p.P999L|NFASC_ENST00000513543.1_Missense_Mutation_p.P995L|NFASC_ENST00000367169.4_Missense_Mutation_p.P892L|NFASC_ENST00000367171.4_Missense_Mutation_p.P984L|NFASC_ENST00000367170.4_Missense_Mutation_p.P999L|NFASC_ENST00000339876.6_Missense_Mutation_p.P892L|NFASC_ENST00000539706.1_Missense_Mutation_p.P995L|NFASC_ENST00000360049.4_Missense_Mutation_p.P995L O94856 NFASC_HUMAN neurofascin 999 Fibronectin type-III 4. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) AGAACGGACCCCGTGTCACGC 0.567000 19 108 0 0 1 0 0 GTSF1L 149699 broad.mit.edu 37 20 42355047 42355047 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr20:42355047G>A ENST00000373003.1 - 1 591 c.288C>T c.(286-288)ccC>ccT p.P96P GTSF1L_ENST00000373005.2_Intron NM_001008901.1|NM_176791.3 NP_001008901.1|NP_789761.1 Q9H1H1 GTSFL_HUMAN gametocyte specific factor 1-like 96 metal ion binding endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 5 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) TGGGAAGGCAGGGTGAGACCT 0.498000 15 50 0 0 1 0 0 PTPRT 11122 broad.mit.edu 37 20 40770568 40770568 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr20:40770568C>T ENST00000373198.3 - 19 3058 c.2823G>A c.(2821-2823)ggG>ggA p.G941G PTPRT_ENST00000373201.1_Silent_p.G909G|PTPRT_ENST00000373187.1_Silent_p.G919G|PTPRT_ENST00000373193.3_Silent_p.G922G|PTPRT_ENST00000373184.1_Silent_p.G909G|PTPRT_ENST00000373190.1_Silent_p.G918G|PTPRT_ENST00000356100.2_Silent_p.G928G NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 919 Tyrosine-protein phosphatase 1. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) ATATGATGTTCCCATATCGAT 0.473000 61 137 0 0 1 0 0 CASR 846 broad.mit.edu 37 3 121981132 121981132 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:121981132C>T ENST00000498619.1 + 4 1688 c.1250C>T c.(1249-1251)tCc>tTc p.S417F CASR_ENST00000490131.1_Missense_Mutation_p.S417F|CASR_ENST00000296154.5_Missense_Mutation_p.S417F NM_001178065.1 NP_001171536.1 P41180 CASR_HUMAN calcium-sensing receptor 417 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) TTACGGATATCCTACAATGTG 0.493000 31 43 0 0 1 0 0 CACHD1 57685 broad.mit.edu 37 1 65138896 65138896 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:65138896C>T ENST00000371073.2 + 18 2566 c.2566C>T c.(2566-2568)Ccc>Tcc p.P856S CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Missense_Mutation_p.P805S Q5VU97 CAHD1_HUMAN cache domain containing 1 856 calcium ion transport integral to membrane breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 TCTCATCGACCCCAAAGGACA 0.502000 37 181 0 0 1 0 0 RAB40C 57799 broad.mit.edu 37 16 640424 640424 + Missense_Mutation SNP T T C TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr16:640424T>C ENST00000535977.1 + 2 355 c.133T>C c.(133-135)Tac>Cac p.Y45H RAB40C_ENST00000248139.3_Missense_Mutation_p.Y45H|RAB40C_ENST00000538492.1_Missense_Mutation_p.Y45H|RAB40C_ENST00000539661.1_Missense_Mutation_p.Y45H NM_001172663.1 NP_001166134.1 Q96S21 RB40C_HUMAN RAB40C, member RAS oncogene family 45 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1) 6 Hepatocellular(780;0.0218) CCCGTACGCCTACAGTAACGG 0.726000 6 18 0 0 1 0 0 ADRA1A 148 broad.mit.edu 37 8 26628180 26628180 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:26628180G>A ENST00000380573.3 - 3 1910 c.887C>T c.(886-888)tCt>tTt p.S296F ADRA1A_ENST00000354550.4_Missense_Mutation_p.S296F|ADRA1A_ENST00000276393.4_Missense_Mutation_p.S296F|ADRA1A_ENST00000519229.1_Missense_Mutation_p.S296F|ADRA1A_ENST00000380582.3_Missense_Mutation_p.S296F|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000380586.1_Missense_Mutation_p.S296F|ADRA1A_ENST00000380581.2_Intron P35348 ADA1A_HUMAN adrenoceptor alpha 1A 296 activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction integral to plasma membrane alpha1-adrenergic receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1) 36 all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115) Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246) AGGGAAGAAAGACCCTGGAAG 0.368000 20 38 0 0 1 0 0 LRRIQ3 127255 broad.mit.edu 37 1 74492646 74492646 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:74492646C>T ENST00000354431.4 - 8 1917 c.1726G>A c.(1726-1728)Gaa>Aaa p.E576K LRRIQ3_ENST00000395089.1_Missense_Mutation_p.E576K NM_001105659.1 NP_001099129.1 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 576 NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5) 73 TTATATATTTCTTGAGATCTA 0.284000 10 12 0 0 1 0 0 NCAPH2 29781 broad.mit.edu 37 22 50957717 50957717 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr22:50957717C>T ENST00000395701.3 + 9 923 c.829C>T c.(829-831)Ctg>Ttg p.L277L NCAPH2_ENST00000299821.11_Silent_p.L277L|NCAPH2_ENST00000395698.3_Silent_p.L277L|NCAPH2_ENST00000420993.2_Silent_p.L277L Q6IBW4 CNDH2_HUMAN non-SMC condensin II complex, subunit H2 277 chromosome condensation chromosome|nucleus breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1) 24 all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.212) CAAGGCCGCTCTGGAGCCCAA 0.682000 5 3 0 0 1 0 0 DNAJC13 23317 broad.mit.edu 37 3 132229920 132229920 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:132229920G>A ENST00000260818.6 + 44 5373 c.5125G>A c.(5125-5127)Gca>Aca p.A1709T NM_015268.3 NP_056083.3 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 1709 heat shock protein binding breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1) 34 GGTTCCAAAAGCATTTGCTGC 0.413000 51 92 0 0 1 0 0 NGF 4803 broad.mit.edu 37 1 115829272 115829272 + Missense_Mutation SNP G G A rs146716262 TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:115829272G>A ENST00000369512.2 - 3 313 c.145C>T c.(145-147)Cgc>Tgc p.R49C RP4-663N10.1_ENST00000425449.1_RNA NM_002506.2 NP_002497.2 P01138 NGF_HUMAN nerve growth factor (beta polypeptide) 49 activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|Golgi lumen growth factor activity|nerve growth factor receptor binding p.R49C(1) breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 13 Lung SC(450;0.211) all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179) Clenbuterol(DB01407) CGGGCTCTGCGAAGGGCAGTG 0.612000 54 29 0 0 1 0 0 LAMA2 3908 broad.mit.edu 37 6 129759863 129759863 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:129759863G>A ENST00000421865.2 + 42 6090 c.6041G>A c.(6040-6042)aGa>aAa p.R2014K NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 2014 Domain II and I. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) GATCTCTTGAGAACTTTGAAT 0.363000 19 69 0 0 1 0 0 FGF5 2250 broad.mit.edu 37 4 81207815 81207815 + Missense_Mutation SNP C C T rs137903755 TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr4:81207815C>T ENST00000312465.7 + 3 1022 c.796C>T c.(796-798)Cgc>Tgc p.R266C FGF5_ENST00000456523.3_3'UTR|FGF5_ENST00000503413.1_3'UTR NM_004464.3 NP_004455.2 P12034 FGF5_HUMAN fibroblast growth factor 5 266 cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation extracellular space fibroblast growth factor receptor binding|growth factor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 22 ACTCAAGTTTCGCTTTGGATA 0.418000 38 21 0 0 1 0 0 PAK7 57144 broad.mit.edu 37 20 9525085 9525085 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr20:9525085C>T ENST00000378429.3 - 9 2346 c.1800G>A c.(1798-1800)agG>agA p.R600R PAK7_ENST00000353224.5_Silent_p.R600R|PAK7_ENST00000378423.1_Silent_p.R600R NM_020341.3 NP_065074.1 Q9P286 PAK7_HUMAN p21 protein (Cdc42/Rac)-activated kinase 7 600 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) CCAATGATTTCCTCTTCGGCA 0.453000 46 55 0 0 1 0 0 SDCBP2 27111 broad.mit.edu 37 20 1293297 1293297 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr20:1293297G>A ENST00000360779.3 - 6 667 c.494C>T c.(493-495)tCg>tTg p.S165L SDCBP2_ENST00000381808.3_Missense_Mutation_p.S80L|SDCBP2_ENST00000381812.1_Missense_Mutation_p.S165L|SDCBP2_ENST00000339987.3_Missense_Mutation_p.S165L NM_080489.4 NP_536737.3 Q9H190 SDCB2_HUMAN syndecan binding protein (syntenin) 2 165 PDZ 1. intracellular signal transduction|intracellular transport|nervous system development cytoplasm protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity endometrium(1)|large_intestine(3)|lung(1)|skin(1)|stomach(1) 7 GGCTTTGTGCGAGCTCCACCC 0.622000 38 25 0 0 1 0 0 CYP4F11 57834 broad.mit.edu 37 19 16032917 16032917 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:16032917C>T ENST00000326742.7 - 8 1046 c.1045G>A c.(1045-1047)Gaa>Aaa p.E349K CYP4F11_ENST00000402119.3_Missense_Mutation_p.E349K|CYP4F11_ENST00000248041.7_Missense_Mutation_p.E349K Q9HBI6 CP4FB_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 11 349 inflammatory response|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding p.E349K(1) NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3) 25 TCCTGGTATTCTGGGTGCTTT 0.542000 30 37 0 0 1 0 0 ARSJ 79642 broad.mit.edu 37 4 114824237 114824237 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr4:114824237C>T ENST00000315366.7 - 2 1859 c.993G>A c.(991-993)caG>caA p.Q331Q ARSJ_ENST00000541197.1_Silent_p.Q331Q NM_024590.3 NP_078866.3 Q5FYB0 ARSJ_HUMAN arylsulfatase family, member J 331 extracellular region arylsulfatase activity|metal ion binding endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1) 21 Ovarian(17;0.0035)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00194) CTGCCGTAGGCTGGCCACCAT 0.468000 12 66 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181724441 181724441 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:181724441C>T ENST00000526775.1 + 27 4005 c.3840C>T c.(3838-3840)ttC>ttT p.F1280F CACNA1E_ENST00000357570.5_Silent_p.F1250F|CACNA1E_ENST00000367573.2_Silent_p.F1299F|CACNA1E_ENST00000360108.3_Silent_p.F1280F|CACNA1E_ENST00000367567.4_Silent_p.F906F|CACNA1E_ENST00000358338.5_Silent_p.F1231F|CACNA1E_ENST00000367570.1_Silent_p.F1299F NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1299 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 ACAAGCTCTTCATGTTCATCT 0.473000 92 50 0 0 1 0 0 SPAM1 6677 broad.mit.edu 37 7 123593705 123593705 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:123593705C>T ENST00000340011.5 + 3 438 c.81C>T c.(79-81)ttC>ttT p.F27F SPAM1_ENST00000439500.1_Silent_p.F27F|SPAM1_ENST00000402183.2_Silent_p.F27F|SPAM1_ENST00000223028.7_Silent_p.F27F|SPAM1_ENST00000460182.1_Silent_p.F27F NM_003117.4 NP_003108.2 P38567 HYALP_HUMAN sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) 27 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 Hyaluronidase(DB00070) TTTTCACCTTCCTTCTGATTC 0.408000 8 25 0 0 1 0 0 SEPT14 346288 broad.mit.edu 37 7 55874916 55874916 + Silent SNP G G T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:55874916G>T ENST00000388975.3 - 8 969 c.853C>A c.(853-855)Cga>Aga p.R285R NM_207366.2 NP_997249.2 Q6ZU15 SEP14_HUMAN septin 14 285 cell cycle|cell division septin complex GTP binding|protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2) 23 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) AGCATATCTCGGAGCTTAACG 0.338000 21 42 1.10513e-12 1.11637e-12 1 1 0 CEP250 11190 broad.mit.edu 37 20 34091457 34091457 + Nonsense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr20:34091457C>T ENST00000397527.1 + 30 5980 c.5260C>T c.(5260-5262)Cag>Tag p.Q1754* CEP250_ENST00000342580.4_Nonsense_Mutation_p.Q1698* NM_007186.3 NP_009117.2 Q9BV73 CP250_HUMAN centrosomal protein 250kDa 1754 Gln/Glu-rich. centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) GCTCAAAGACCAGCTGGAGCA 0.577000 48 103 0 0 1 0 0 C9orf153 389766 broad.mit.edu 37 9 88842279 88842279 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr9:88842279C>T ENST00000376001.3 - 4 355 c.275G>A c.(274-276)aGa>aAa p.R92K C9orf153_ENST00000469914.1_Intron|C9orf153_ENST00000339137.3_Intron NM_001276366.1 NP_001263295.1 Q5TBE3 CI153_HUMAN chromosome 9 open reading frame 153 92 breast(1)|lung(1) 2 tggggtctttctatgttttcc 0.348000 19 7 0 0 1 0 0 SERPIND1 3053 broad.mit.edu 37 22 21141180 21141180 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr22:21141180G>A ENST00000215727.5 + 5 1609 c.1326G>A c.(1324-1326)acG>acA p.T442T PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000466162.1_Intron|SERPIND1_ENST00000406799.1_Silent_p.T442T|PI4KA_ENST00000572273.1_Intron NM_000185.3 NP_000176.2 P05546 HEP2_HUMAN serpin peptidase inhibitor, clade D (heparin cofactor), member 1 442 T -> M (in dbSNP:rs5904). blood coagulation|chemotaxis|regulation of proteolysis extracellular region heparin binding|serine-type endopeptidase inhibitor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-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) Ardeparin(DB00407) ACCAAGGCACGATCACAGTGA 0.547000 48 55 0 0 1 0 0 ITGA7 3679 broad.mit.edu 37 12 56094848 56094848 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:56094848C>T ENST00000257880.7 - 4 724 c.505G>A c.(505-507)Gac>Aac p.D169N ITGA7_ENST00000452168.2_Missense_Mutation_p.D72N|ITGA7_ENST00000347027.6_Missense_Mutation_p.D169N|ITGA7_ENST00000257879.6_Missense_Mutation_p.D169N|ITGA7_ENST00000553804.1_Missense_Mutation_p.D169N|ITGA7_ENST00000394229.2_Missense_Mutation_p.D169N|ITGA7_ENST00000555728.1_Missense_Mutation_p.D169N|ITGA7_ENST00000394230.2_Missense_Mutation_p.D169N Q13683 ITA7_HUMAN integrin, alpha 7 169 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape integrin complex receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 ATGGCCAGGTCCTGGCTGAGC 0.597000 19 25 0 0 1 0 0 GBP7 388646 broad.mit.edu 37 1 89599058 89599058 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:89599058C>T ENST00000294671.2 - 10 1683 c.1545G>A c.(1543-1545)atG>atA p.M515I NM_207398.2 NP_997281.2 Q8N8V2 GBP7_HUMAN guanylate binding protein 7 515 integral to membrane GTP binding|GTPase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Lung NSC(277;0.0908) all cancers(265;0.00835)|Epithelial(280;0.0322) GAGCCTCCATCATTTGCTGCT 0.443000 70 66 0 0 1 0 0 TNFRSF11B 4982 broad.mit.edu 37 8 119938927 119938927 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:119938927C>T ENST00000297350.4 - 4 1001 c.623G>A c.(622-624)aGg>aAg p.R208K NM_002546.3 NP_002537.3 O00300 TR11B_HUMAN tumor necrosis factor receptor superfamily, member 11b 208 Death 1. apoptosis|skeletal system development cytokine activity|receptor activity breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1) 25 all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234) STAD - Stomach adenocarcinoma(47;0.00193) AACAGCAAACCTGAAGAATGC 0.398000 11 22 0 0 1 0 0 CCDC69 26112 broad.mit.edu 37 5 150563997 150563997 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:150563997C>T ENST00000355417.2 - 8 795 c.621G>A c.(619-621)gaG>gaA p.E207E CCDC69_ENST00000521308.1_5'UTR NM_015621.2 NP_056436.2 A6NI79 CCD69_HUMAN coiled-coil domain containing 69 207 haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|stomach(1) 9 Medulloblastoma(196;0.091)|all_hematologic(541;0.207) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TCAGATTTTTCTCTTTCTATA 0.473000 12 13 0 0 1 0 0 RNF133 168433 broad.mit.edu 37 7 122338703 122338703 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:122338703G>A ENST00000340112.2 - 1 507 c.270C>T c.(268-270)acC>acT p.T90T CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000449022.2_Intron NM_139175.1 NP_631914.1 Q8WVZ7 RN133_HUMAN ring finger protein 133 90 PA. endoplasmic reticulum membrane|integral to membrane ligase activity|zinc ion binding NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 21 GGCTGAAAATGGTATTGGGAT 0.453000 51 87 0 0 1 0 0 ZPLD1 131368 broad.mit.edu 37 3 102171970 102171970 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:102171970G>A ENST00000306176.1 + 3 462 c.362G>A c.(361-363)gGa>gAa p.G121E ZPLD1_ENST00000491959.1_Missense_Mutation_p.G105E|ZPLD1_ENST00000466937.1_Missense_Mutation_p.G105E NM_175056.1 NP_778226.1 Q8TCW7 ZPLD1_HUMAN zona pellucida-like domain containing 1 105 ZP. integral to membrane central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3) 35 GAGGGCTGTGGAAACAACCTG 0.443000 11 22 0 0 1 0 0 SIGLEC1 6614 broad.mit.edu 37 20 3672567 3672567 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr20:3672567C>T ENST00000344754.4 - 16 4312 c.4313G>A c.(4312-4314)gGg>gAg p.G1438E SIGLEC1_ENST00000202578.4_Missense_Mutation_p.G1438E NM_023068.3 NP_075556.1 Q9BZZ2 SN_HUMAN sialic acid binding Ig-like lectin 1, sialoadhesin 1438 Ig-like C2-type 14. cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 CTGCAACCGCCCGATGGTGCT 0.597000 31 31 0 0 1 0 0 DPYD 1806 broad.mit.edu 37 1 97771853 97771853 + Splice_Site SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:97771853C>T ENST00000370192.3 - 17 2159 c.2058_splice c.e17-1 p.D687_splice DPYD-AS1_ENST00000422980.1_RNA NM_000110.3 NP_000101.2 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 687 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) AGCTCTGGATCCTGTTCAAAT 0.428000 94 49 0 0 1 0 0 OR1L8 138881 broad.mit.edu 37 9 125330206 125330206 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr9:125330206G>A ENST00000304865.2 - 1 632 c.551C>T c.(550-552)cCt>cTt p.P184L NM_001004454.1 NP_001004454.1 Q8NGR8 OR1L8_HUMAN olfactory receptor, family 1, subfamily L, member 8 184 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 TTTCAGCACAGGGCTGAGGTC 0.453000 14 13 0 0 1 0 0 COL19A1 1310 broad.mit.edu 37 6 70639521 70639521 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:70639521G>A ENST00000322773.4 + 6 697 c.595G>A c.(595-597)Gaa>Aaa p.E199K NM_001858.4 NP_001849.2 Q14993 COJA1_HUMAN collagen, type XIX, alpha 1 199 TSP N-terminal. cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 109 GCAGACTGATGAAAAGGACAC 0.418000 41 40 0 0 1 0 0 CALCOCO2 10241 broad.mit.edu 37 17 46925443 46925443 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr17:46925443C>T ENST00000258947.3 + 3 299 c.198C>T c.(196-198)acC>acT p.T66T CALCOCO2_ENST00000509507.1_Silent_p.T87T|CALCOCO2_ENST00000508679.1_5'UTR|CALCOCO2_ENST00000448105.2_Silent_p.T90T|CALCOCO2_ENST00000416445.2_Silent_p.T66T NM_001261390.1|NM_001261391.1|NM_001261393.1|NM_001261395.1|NM_005831.4 NP_001248319.1|NP_001248320.1|NP_001248322.1|NP_001248324.1|NP_005822.1 Q13137 CACO2_HUMAN calcium binding and coiled-coil domain 2 66 response to interferon-gamma|viral reproduction cytoskeleton|Golgi apparatus|nucleus|perinuclear region of cytoplasm|soluble fraction protein homodimerization activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 15 GGAAGACAACCCGTGAGTATT 0.413000 17 20 0 0 1 0 0 LAMP5 24141 broad.mit.edu 37 20 9496652 9496652 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr20:9496652C>T ENST00000246070.2 + 3 735 c.243C>T c.(241-243)atC>atT p.I81I LAMP5_ENST00000427562.2_Intron NM_012261.3 NP_036393.1 Q9UJQ1 CT103_HUMAN lysosomal-associated membrane protein family, member 5 81 I -> V (in dbSNP:rs2232263). integral to membrane CCCAGCTGATCACAGAACAGG 0.672000 7 20 0 0 1 0 0 TRIM35 23087 broad.mit.edu 37 8 27145286 27145286 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:27145286G>A ENST00000305364.4 - 6 1346 c.1263C>T c.(1261-1263)gtC>gtT p.V421V TRIM35_ENST00000521253.1_3'UTR NM_171982.3 NP_741983.2 Q9UPQ4 TRI35_HUMAN tripartite motif containing 35 421 B30.2/SPRY. apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle cytoplasm|nucleus zinc ion binding breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1) 14 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141) GGATGGCCAGGACCAGGGGCG 0.672000 15 18 0 0 1 0 0 ANKS6 203286 broad.mit.edu 37 9 101546353 101546353 + Missense_Mutation SNP G G C TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr9:101546353G>C ENST00000353234.4 - 4 1041 c.994C>G c.(994-996)Cta>Gta p.L332V ANKS6_ENST00000375019.2_Missense_Mutation_p.L31V|ANKS6_ENST00000540940.1_Missense_Mutation_p.L137V|ANKS6_ENST00000375018.1_Missense_Mutation_p.L332V Q68DC2 ANKS6_HUMAN ankyrin repeat and sterile alpha motif domain containing 6 332 endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 21 Acute lymphoblastic leukemia(62;0.0527) ACAGCTGCTAGCATCAGTGGC 0.597000 38 10 0 0 1 0 0 EDIL3 10085 broad.mit.edu 37 5 83360566 83360566 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:83360566C>T ENST00000296591.5 - 8 1323 c.905G>A c.(904-906)cGa>cAa p.R302Q EDIL3_ENST00000380138.3_Missense_Mutation_p.R292Q|EDIL3_ENST00000510271.1_5'UTR NM_005711.3 NP_005702.3 O43854 EDIL3_HUMAN EGF-like repeats and discoidin I-like domains 3 302 F5/8 type C 1. cell adhesion|multicellular organismal development extracellular region calcium ion binding|integrin binding p.R302Q(1) cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3) 31 Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425) OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26) GCAATGTCTTCGACAAACTTG 0.383000 14 35 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9061149 9061149 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:9061149G>A ENST00000397910.4 - 3 26500 c.26297C>T c.(26296-26298)tCc>tTc p.S8766F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8768 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGTTTCCGTGGAGATTTCTGG 0.507000 32 57 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13883114 13883114 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:13883114G>A ENST00000265104.4 - 20 3177 c.3073C>T c.(3073-3075)Cct>Tct p.P1025S CTB-51A17.1_ENST00000503244.1_RNA NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1025 Stem (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) TCCAGGGCAGGGGCCATGACG 0.527000 Kartagener syndrome 32 23 0 0 1 0 0 TSHZ2 128553 broad.mit.edu 37 20 51871684 51871684 + Nonsense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr20:51871684C>T ENST00000371497.5 + 2 2574 c.1687C>T c.(1687-1689)Cag>Tag p.Q563* TSHZ2_ENST00000603338.2_Nonsense_Mutation_p.Q560*|TSHZ2_ENST00000329613.6_Nonsense_Mutation_p.Q560* NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 563 Q -> R (in Ref. 1; BAC03610). multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) TATGGGATCCCAGGTACTGCA 0.597000 38 95 0 0 1 0 0 XKR6 286046 broad.mit.edu 37 8 11058468 11058468 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:11058468G>A ENST00000416569.2 - 1 407 c.381C>T c.(379-381)ctC>ctT p.L127L XKR6_ENST00000297303.4_Silent_p.L127L NM_173683.3 NP_775954.2 Q5GH73 XKR6_HUMAN XK, Kell blood group complex subunit-related family, member 6 127 integral to membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3) 31 Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555) ACAGGCAGTCGAGCCACGGCC 0.761000 13 61 0 0 1 0 0 ACOT11 26027 broad.mit.edu 37 1 55072900 55072900 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:55072900C>T ENST00000371316.3 + 14 1546 c.1464C>T c.(1462-1464)ttC>ttT p.F488F ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000343744.2_Silent_p.F488F NM_015547.3 NP_056362.1 Q8WXI4 ACO11_HUMAN acyl-CoA thioesterase 11 488 START. fatty acid metabolic process|intracellular signal transduction|response to cold acyl-CoA thioesterase activity|carboxylesterase activity NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1) 17 CCCAGGACTTCGTGATCCTGG 0.627000 57 28 0 0 1 0 0 ALDH1L1 10840 broad.mit.edu 37 3 125876190 125876190 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:125876190C>T ENST00000393434.2 - 4 873 c.524G>A c.(523-525)gGg>gAg p.G175E ALDH1L1_ENST00000455064.2_5'UTR|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.G185E|ALDH1L1_ENST00000452905.2_Intron|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.G175E|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.G175E NM_012190.3 NP_036322.2 O75891 AL1L1_HUMAN aldehyde dehydrogenase 1 family, member L1 175 GART. 10-formyltetrahydrofolate catabolic process|biosynthetic process acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 52 GBM - Glioblastoma multiforme(114;0.0462) Tetrahydrofolic acid(DB00116) CCTCACCATCCCTTTGATGCC 0.657000 48 69 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152381774 152381774 + Missense_Mutation SNP T T A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:152381774T>A ENST00000397345.3 - 151 22377 c.22175A>T c.(22174-22176)aAg>aTg p.K7392M NEB_ENST00000603639.1_Missense_Mutation_p.K7392M|NEB_ENST00000604864.1_Missense_Mutation_p.K7392M|NEB_ENST00000409198.1_Missense_Mutation_p.K5691M|NEB_ENST00000172853.10_Missense_Mutation_p.K5691M|NEB_ENST00000427231.2_Missense_Mutation_p.K7392M NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 5691 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) GACAAACTTCTTTTTGTAATT 0.398000 15 20 0 0 1 0 0 C4A 720 broad.mit.edu 37 6 31963866 31963866 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:31963866C>T ENST00000428956.2 + 26 3449 c.3365C>T c.(3364-3366)cCa>cTa p.P1122L C4A_ENST00000498271.1_Missense_Mutation_p.P1122L NM_007293.2 NP_009224.2 complement component 4A (Rodgers blood group) GACCCCTGTCCAGTGTTAGAC 0.622000 31 137 0 0 1 0 0 MROH2B 133558 broad.mit.edu 37 5 41048463 41048463 + Nonsense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:41048463C>T ENST00000399564.4 - 16 2097 c.1647G>A c.(1645-1647)tgG>tgA p.W549* MROH2B_ENST00000506092.2_Nonsense_Mutation_p.W104* NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B AACGTGTTTTCCATAGGTCTA 0.478000 28 63 0 0 1 0 0 TAS2R10 50839 broad.mit.edu 37 12 10978126 10978126 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:10978126G>A ENST00000240619.2 - 1 831 c.743C>T c.(742-744)tCa>tTa p.S248L NM_023921.1 NP_076410.1 Q9NYW0 T2R10_HUMAN taste receptor, type 2, member 10 248 sensory perception of taste integral to membrane taste receptor activity breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 17 AGTAAAACATGATATTTCTAT 0.378000 31 27 0 0 1 0 0 ADAM12 8038 broad.mit.edu 37 10 127789803 127789803 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr10:127789803C>T ENST00000368679.4 - 9 1067 c.758G>A c.(757-759)aGa>aAa p.R253K ADAM12_ENST00000368676.4_Missense_Mutation_p.R253K NM_003474.4 NP_003465.3 O43184 ADA12_HUMAN ADAM metallopeptidase domain 12 253 Peptidase M12B. cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216) GTTCAGTGGTCTGTAAAACTG 0.428000 15 6 0 0 1 0 0 C1orf61 10485 broad.mit.edu 37 1 156374372 156374372 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:156374372G>A ENST00000368243.1 - 7 561 c.445C>T c.(445-447)Cat>Tat p.H149Y NM_006365.1 NP_006356.1 Q13536 CROC4_HUMAN chromosome 1 open reading frame 61 149 nucleus large_intestine(2)|lung(2)|skin(1) 5 Hepatocellular(266;0.158) CCAACCAGATGAAGTACATTC 0.423000 5 59 0 0 1 0 0 FAM161A 84140 broad.mit.edu 37 2 62065718 62065718 + Missense_Mutation SNP T T A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:62065718T>A ENST00000404929.1 - 4 1717 c.1706A>T c.(1705-1707)cAt>cTt p.H569L FAM161A_ENST00000405894.3_Intron NM_001201543.1 NP_001188472.1 Q3B820 F161A_HUMAN family with sequence similarity 161, member A 540 response to stimulus|visual perception centrosome breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 TAAACTTTGATGTGAGTCATA 0.363000 39 20 0 0 1 0 0 FBXO30 84085 broad.mit.edu 37 6 146126700 146126700 + Missense_Mutation SNP G G T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:146126700G>T ENST00000237281.4 - 2 1008 c.842C>A c.(841-843)tCt>tAt p.S281Y NM_032145.4 NP_115521.3 Q8TB52 FBX30_HUMAN F-box protein 30 281 ubiquitin-protein ligase activity|zinc ion binding NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 Ovarian(120;0.0776) OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149) ACAAAGAGCAGAAGTGTCATA 0.343000 19 148 3.32936e-07 3.34399e-07 1 1 0 RIOK3 8780 broad.mit.edu 37 18 21053520 21053520 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr18:21053520C>T ENST00000339486.3 + 8 1560 c.943C>T c.(943-945)Cgc>Tgc p.R315C RIOK3_ENST00000581585.1_Missense_Mutation_p.R299C|RIOK3_ENST00000577501.1_Missense_Mutation_p.R315C NM_003831.3 NP_003822.2 O14730 RIOK3_HUMAN RIO kinase 3 315 Protein kinase. chromosome segregation ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2) 10 all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127) GTTTAAAGATCGCTTCAGTAA 0.338000 10 20 0 0 1 0 0 PDE1A 5136 broad.mit.edu 37 2 183066221 183066221 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:183066221G>A ENST00000435564.1 - 10 1318 c.1118C>T c.(1117-1119)tCc>tTc p.S373F PDE1A_ENST00000346717.4_Missense_Mutation_p.S339F|PDE1A_ENST00000331935.6_Missense_Mutation_p.S373F|PDE1A_ENST00000358139.2_Missense_Mutation_p.S373F|PDE1A_ENST00000410103.1_Missense_Mutation_p.S373F|PDE1A_ENST00000536095.1_Missense_Mutation_p.S269F|PDE1A_ENST00000351439.5_Missense_Mutation_p.S357F|PDE1A_ENST00000409365.1_Missense_Mutation_p.S357F|PDE1A_ENST00000456212.1_Missense_Mutation_p.S373F NM_001258312.1|NM_005019.4 NP_001245241.1|NP_005010.2 P54750 PDE1A_HUMAN phosphodiesterase 1A, calmodulin-dependent 373 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(117;0.061) CAGCTTCCAGGATTTGGCTGG 0.463000 45 48 0 0 1 0 0 DRD2 1813 broad.mit.edu 37 11 113286151 113286151 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:113286151G>A ENST00000362072.3 - 5 1059 c.715C>T c.(715-717)Cca>Tca p.P239S DRD2_ENST00000355319.2_Missense_Mutation_p.P239S|DRD2_ENST00000542968.1_Missense_Mutation_p.P239S|DRD2_ENST00000544518.1_Missense_Mutation_p.P238S|DRD2_ENST00000538967.1_Missense_Mutation_p.P239S|DRD2_ENST00000346454.3_Missense_Mutation_p.P239S|DRD2_ENST00000535984.1_5'UTR NM_000795.3 NP_000786.1 P14416 DRD2_HUMAN dopamine receptor D2 239 Interaction with PPP1R9B (By similarity). activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning integral to plasma membrane dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 39 all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494) BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624) ACCTTTAGTGGAGCCCTCAGG 0.572000 54 88 0 0 1 0 0 TCEAL2 140597 broad.mit.edu 37 X 101382460 101382460 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chrX:101382460G>A ENST00000372780.1 + 3 877 c.658G>A c.(658-660)Gac>Aac p.D220N TCEAL2_ENST00000329035.2_Missense_Mutation_p.D220N NM_080390.3 NP_525129.1 Q9H3H9 TCAL2_HUMAN transcription elongation factor A (SII)-like 2 220 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1) 11 CCCACGAAGGGACACTGAAGA 0.488000 60 16 0 0 1 0 0 IGDCC4 57722 broad.mit.edu 37 15 65680892 65680892 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr15:65680892C>T ENST00000352385.2 - 16 2949 c.2740G>A c.(2740-2742)Gag>Aag p.E914K NM_020962.1 NP_066013.1 Q8TDY8 IGDC4_HUMAN immunoglobulin superfamily, DCC subclass, member 4 914 Fibronectin type-III 5. integral to membrane|plasma membrane NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 44 GTGTCGCTCTCCAGGCCATGG 0.627000 25 76 0 0 1 0 0 DGAT2 84649 broad.mit.edu 37 11 75501756 75501756 + Nonsense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:75501756C>T ENST00000228027.7 + 4 669 c.409C>T c.(409-411)Cga>Tga p.R137* DGAT2_ENST00000376262.3_Nonsense_Mutation_p.R94* NM_032564.4 NP_115953.2 Q96PD7 DGAT2_HUMAN diacylglycerol O-acyltransferase 2 137 glycerol metabolic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane diacylglycerol O-acyltransferase activity p.R137*(1) endometrium(3)|large_intestine(5)|lung(5)|prostate(2)|skin(2) 17 Ovarian(111;0.103) GCGCTACTTTCGAGACTACTT 0.537000 35 58 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100675720 100675720 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:100675720C>T ENST00000306151.4 + 3 1087 c.1023C>T c.(1021-1023)gcC>gcT p.A341A NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 341 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) GTACGCCTGCCAGCACCATGC 0.483000 158 230 0 0 1 0 0 APCS 325 broad.mit.edu 37 1 159558228 159558228 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:159558228G>A ENST00000255040.2 + 2 499 c.402G>A c.(400-402)gtG>gtA p.V134V NM_001639.3 NP_001630.1 P02743 SAMP_HUMAN amyloid P component, serum 134 Pentaxin. acute-phase response|chaperone-mediated protein complex assembly|protein folding extracellular space metal ion binding|sugar binding|unfolded protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2) 20 all_hematologic(112;0.0429) CACCTTTGGTGAAAAAGGGTC 0.498000 43 22 0 0 1 0 0 HSD17B13 345275 broad.mit.edu 37 4 88239495 88239495 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr4:88239495G>A ENST00000328546.4 - 2 368 c.304C>T c.(304-306)Cgc>Tgc p.R102C RP11-529H2.2_ENST00000508163.1_RNA|HSD17B13_ENST00000302219.6_Intron NM_178135.3 NP_835236.2 Q7Z5P4 DHB13_HUMAN hydroxysteroid (17-beta) dehydrogenase 13 102 extracellular region binding|oxidoreductase activity endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1) 8 Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248) OV - Ovarian serous cystadenocarcinoma(123;0.000308) TTTAGAGAGCGATAGATCTCT 0.468000 17 58 0 0 1 0 0 TDRD9 122402 broad.mit.edu 37 14 104473036 104473036 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr14:104473036G>A ENST00000409874.4 + 17 1981 c.1933G>A c.(1933-1935)Gat>Aat p.D645N TDRD9_ENST00000339063.5_Missense_Mutation_p.D645N NM_153046.2 NP_694591.2 Q8NDG6 TDRD9_HUMAN tudor domain containing 9 645 cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis nucleus|piP-body ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 33 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768) GCAGCATCTCGATGGATATAG 0.338000 14 3 0 0 1 0 0 PAPOLG 64895 broad.mit.edu 37 2 61009027 61009027 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:61009027C>T ENST00000238714.3 + 11 1163 c.914C>T c.(913-915)cCa>cTa p.P305L PAPOLG_ENST00000483370.1_3'UTR NM_022894.3 NP_075045.2 Q9BWT3 PAPOG_HUMAN poly(A) polymerase gamma 305 mRNA processing|RNA polyadenylation|transcription, DNA-dependent nucleus ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 35 all_hematologic(2;0.0797) LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768) CAGGTAAATCCATCAGATAGG 0.368000 16 64 0 0 1 0 0 HECW1 23072 broad.mit.edu 37 7 43484894 43484894 + Missense_Mutation SNP A A C TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:43484894A>C ENST00000395891.1 + 11 2728 c.2123A>C c.(2122-2124)tAc>tCc p.Y708S HECW1_ENST00000453890.1_Missense_Mutation_p.Y708S NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 708 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 CCCTCCTGCTACAACGGCAAC 0.637000 36 63 0 0 1 0 0 FRMPD2 143162 broad.mit.edu 37 10 49457098 49457098 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr10:49457098C>T ENST00000374201.3 - 3 577 c.275G>A c.(274-276)gGa>gAa p.G92E FRMPD2_ENST00000305531.3_Missense_Mutation_p.G90E|FRMPD2_ENST00000407470.4_Missense_Mutation_p.G83E NM_001018071.3 NP_001018081.3 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 92 KIND. tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 66 Kidney(211;0.201) CTCACTCTGTCCCTGTAGCAG 0.562000 8 8 0 0 1 0 0 MRVI1 10335 broad.mit.edu 37 11 10622562 10622562 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:10622562C>T ENST00000547195.1 - 14 2147 c.1647G>A c.(1645-1647)gtG>gtA p.V549V MRVI1_ENST00000545852.1_Silent_p.V325V|MRVI1_ENST00000552103.1_Silent_p.V549V|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000424001.1_Silent_p.V325V|MRVI1_ENST00000423302.2_Silent_p.V640V|MRVI1_ENST00000531107.1_Silent_p.V632V|MRVI1_ENST00000527509.2_Silent_p.V549V|MRVI1_ENST00000436272.1_Silent_p.V613V|MRVI1_ENST00000534266.2_Silent_p.V325V|MRVI1_ENST00000541483.1_Silent_p.V434V|MRVI1_ENST00000421747.1_Silent_p.V631V|MRVI1_ENST00000558540.1_Silent_p.V325V NM_001100163.2|NM_001206881.1 NP_001093633.1|NP_001193810.1 Q9Y6F6 MRVI1_HUMAN murine retrovirus integration site 1 homolog 613 Interaction with ITPR1 (By similarity). platelet activation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2) 22 all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723) TTAGATTCTCCACATACTGCA 0.517000 71 162 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179474445 179474445 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:179474445C>T ENST00000589042.1 - 272 51929 c.51705G>A c.(51703-51705)cgG>cgA p.R17235R TTN_ENST00000342992.6_Silent_p.R14667R|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.R15594R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.R8170R|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342175.6_Silent_p.R8362R|TTN_ENST00000359218.5_Silent_p.R8295R|TTN-AS1_ENST00000456053.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 15594 Fibronectin type-III 24. 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) GAGGAGTAGCCCGAGAAGGTT 0.438000 73 108 0 0 1 0 0 SCRN1 9805 broad.mit.edu 37 7 29980343 29980343 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:29980343G>A ENST00000426154.1 - 5 870 c.694C>T c.(694-696)Cat>Tat p.H232Y SCRN1_ENST00000409497.1_Missense_Mutation_p.H232Y|SCRN1_ENST00000416113.2_Intron|SCRN1_ENST00000242059.5_Missense_Mutation_p.H232Y NM_001145513.1 NP_001138985.1 Q12765 SCRN1_HUMAN secernin 1 232 exocytosis|proteolysis cytoplasm|nuclear membrane dipeptidase activity breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2) 25 CAGTCTAGATGATCCTCAACT 0.498000 33 67 0 0 1 0 0 PDZD2 23037 broad.mit.edu 37 5 32074441 32074441 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:32074441G>A ENST00000438447.1 + 18 3617 c.3229G>A c.(3229-3231)Gaa>Aaa p.E1077K PDZD2_ENST00000282493.3_Missense_Mutation_p.E1077K O15018 PDZD2_HUMAN PDZ domain containing 2 1077 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 GTGGAAGAAGGAACTGTCAGG 0.587000 60 60 0 0 1 0 0 SLCO1B3 28234 broad.mit.edu 37 12 21054378 21054378 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:21054378G>A ENST00000381545.3 + 15 2061 c.1842G>A c.(1840-1842)agG>agA p.R614R SLCO1B3_ENST00000553473.1_Silent_p.R614R|SLCO1B3_ENST00000261196.2_Silent_p.R614R|LST3_ENST00000540229.1_Silent_p.R614R|LST3_ENST00000381541.3_Intron|SLCO1B7_ENST00000554957.1_Intron NM_019844.3 NP_062818.1 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, member 1B3 614 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2) 63 Esophageal squamous(101;0.149) GGGCTTGTAGGATATATAATT 0.348000 14 34 0 0 1 0 0 HIC2 23119 broad.mit.edu 37 22 21799618 21799618 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr22:21799618C>T ENST00000443632.2 + 2 806 c.434C>T c.(433-435)cCc>cTc p.P145L HIC2_ENST00000407464.2_Missense_Mutation_p.P145L|HIC2_ENST00000407598.2_Missense_Mutation_p.P145L Q96JB3 HIC2_HUMAN hypermethylated in cancer 2 145 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent focal adhesion|nucleus DNA binding|protein C-terminus binding|zinc ion binding NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968) Lung SC(17;0.0262)|all_lung(157;0.205) GCCGGCAAGCCCTTTGGCTCT 0.697000 16 15 0 0 1 0 0 CEACAM4 1089 broad.mit.edu 37 19 42125769 42125769 + Splice_Site SNP C C T rs1126455 TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:42125769C>T ENST00000221954.2 - 7 780 c.e7-1 NM_001817.2 NP_001808.2 O75871 CEAM4_HUMAN carcinoembryonic antigen-related cell adhesion molecule 4 integral to plasma membrane|membrane fraction NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1) 16 ATAGCAATTCCTGTAAAAACA 0.522000 31 51 0 0 1 0 0 GIMAP5 55340 broad.mit.edu 37 7 150439925 150439925 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:150439925C>T ENST00000358647.3 + 3 1065 c.698C>T c.(697-699)aCt>aTt p.T233I GIMAP5_ENST00000479556.1_3'UTR NM_018384.4 NP_060854.2 GTPase, IMAP family member 5 central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2) 19 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CTCCAAAGAACTGGAGCTGGG 0.582000 23 41 0 0 1 0 0 DOCK8 81704 broad.mit.edu 37 9 406981 406981 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr9:406981G>A ENST00000432829.2 + 28 3554 c.3238G>A c.(3238-3240)Gat>Aat p.D1080N DOCK8_ENST00000469391.1_Missense_Mutation_p.D1048N|DOCK8_ENST00000382329.1_Missense_Mutation_p.D615N|DOCK8_ENST00000453981.1_Missense_Mutation_p.D1148N NM_203447.3 NP_982272.2 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 1148 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity p.D1148N(1)|p.D1080N(1) breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 65 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) CAGCATGTTCGATCTGACTTC 0.537000 47 20 0 0 1 0 0 RPH3A 22895 broad.mit.edu 37 12 113321160 113321160 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:113321160C>T ENST00000389385.4 + 16 1886 c.1389C>T c.(1387-1389)ctC>ctT p.L463L RPH3A_ENST00000420983.2_Silent_p.L463L|RPH3A_ENST00000548866.1_Silent_p.L414L|RPH3A_ENST00000415485.3_Silent_p.L463L|RPH3A_ENST00000543106.2_Silent_p.L463L|RPH3A_ENST00000447659.2_Silent_p.L414L|RPH3A_ENST00000551052.1_Silent_p.L459L|RPH3A_ENST00000549913.2_3'UTR NM_001143854.1|NM_014954.3 NP_001137326.1|NP_055769.2 Q9Y2J0 RP3A_HUMAN rabphilin 3A homolog (mouse) 463 C2 1. intracellular protein transport cell junction|synaptic vesicle Rab GTPase binding|transporter activity|zinc ion binding breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1) 47 BRCA - Breast invasive adenocarcinoma(302;0.00453) ATGAGACCCTCGTGTATCACG 0.567000 10 24 0 0 1 0 0 LARS 51520 broad.mit.edu 37 5 145537167 145537167 + Missense_Mutation SNP G G C TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:145537167G>C ENST00000394434.2 - 10 1030 c.864C>G c.(862-864)ttC>ttG p.F288L LARS_ENST00000511505.1_5'UTR|LARS_ENST00000274562.9_Missense_Mutation_p.F261L|LARS_ENST00000545646.1_Missense_Mutation_p.F242L|LARS_ENST00000510191.1_Missense_Mutation_p.F234L NM_020117.9 NP_064502.9 Q9P2J5 SYLC_HUMAN leucyl-tRNA synthetase 288 Editing domain. leucyl-tRNA aminoacylation cytosol ATP binding|leucine-tRNA ligase activity|protein binding p.F288F(1) breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8) 34 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Leucine(DB00149) CAGCCACCAAGAAAATATTTT 0.378000 16 10 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10429959 10429959 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr17:10429959C>T ENST00000245503.5 - 30 4528 c.4144G>A c.(4144-4146)Gag>Aag p.E1382K CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E1382K|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1382 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 GCGTCCGTCTCGTATTTGGTC 0.532000 65 35 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124311429 124311429 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:124311429G>A ENST00000409039.3 + 24 4046 c.4021G>A c.(4021-4023)Gag>Aag p.E1341K NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1341 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) CTTGAAAAACGAGGCACTAAG 0.428000 26 26 0 0 1 0 0 PPAP2B 8613 broad.mit.edu 37 1 56962269 56962269 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:56962269G>A ENST00000371250.3 - 6 1441 c.890C>T c.(889-891)tCa>tTa p.S297L PPAP2B_ENST00000459962.1_5'UTR NM_003713.4 NP_003704.3 O14495 LPP3_HUMAN phosphatidic acid phosphatase type 2B 297 canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process adherens junction|Golgi apparatus|integral to membrane phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 GTCCACAGGTGAAAGGATTTC 0.473000 19 81 0 0 1 0 0 CCDC129 223075 broad.mit.edu 37 7 31592661 31592661 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:31592661G>A ENST00000319386.3 + 2 1016 c.23G>A c.(22-24)gGa>gAa p.G8E CCDC129_ENST00000407970.3_Missense_Mutation_p.G8E|CCDC129_ENST00000451887.2_Missense_Mutation_p.G34E|CCDC129_ENST00000482748.1_Intron Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 8 cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31) 44 AAATCACAAGGATCTGACAAC 0.488000 5 7 0 0 1 0 0 MYL1 4632 broad.mit.edu 37 2 211163277 211163277 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:211163277C>T ENST00000352451.3 - 3 318 c.171G>A c.(169-171)gaG>gaA p.E57E MYL1_ENST00000496436.1_5'UTR|MYL1_ENST00000341685.4_Silent_p.E13E NM_079420.2 NP_524144.1 P05976 MYL1_HUMAN myosin, light chain 1, alkali; skeletal, fast 57 EF-hand 1. muscle filament sliding|muscle organ development cytosol|muscle myosin complex|sarcomere calcium ion binding|structural constituent of muscle breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1) 16 Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057) GGAGAAATGCCTCCTTGAATT 0.418000 9 35 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10355552 10355552 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr17:10355552C>T ENST00000255381.2 - 27 3554 c.3444G>A c.(3442-3444)gaG>gaA p.E1148E CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 1148 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle 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 CACTGATCTCCTCCAGCTCCC 0.617000 67 29 0 0 1 0 0 ACSS3 79611 broad.mit.edu 37 12 81613796 81613796 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:81613796G>A ENST00000548058.1 + 11 2365 c.1455G>A c.(1453-1455)atG>atA p.M485I ACSS3_ENST00000261206.3_Missense_Mutation_p.M484I|ACSS3_ENST00000548324.1_Missense_Mutation_p.M167I Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 485 mitochondrion acetate-CoA ligase activity|ATP binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 51 TTGTAGTTATGATTTTGGATG 0.254000 17 15 0 0 1 0 0 RUSC2 9853 broad.mit.edu 37 9 35547741 35547741 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr9:35547741C>T ENST00000455600.1 + 2 1792 c.1223C>T c.(1222-1224)tCa>tTa p.S408L NM_001135999.1 NP_001129471.1 Q8N2Y8 RUSC2_HUMAN RUN and SH3 domain containing 2 408 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) TCTTCCCAATCATCCCCAAGC 0.567000 70 27 0 0 1 0 0 DENND3 22898 broad.mit.edu 37 8 142166030 142166030 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:142166030C>T ENST00000519811.1 + 8 1227 c.1157C>T c.(1156-1158)cCt>cTt p.P386L DENND3_ENST00000424248.1_Missense_Mutation_p.P306L|DENND3_ENST00000262585.2_Missense_Mutation_p.P306L A2RUS2 DEND3_HUMAN DENN/MADD domain containing 3 306 dDENN. breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1) 55 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) GTGGACATTCCTGATGTCCCC 0.448000 40 60 0 0 1 0 0 KRT28 162605 broad.mit.edu 37 17 38955946 38955946 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr17:38955946C>T ENST00000306658.7 - 1 265 c.200G>A c.(199-201)gGa>gAa p.G67E NM_181535.3 NP_853513.2 Q7Z3Y7 K1C28_HUMAN keratin 28 67 Gly-rich.|Head. cytoplasm|intermediate filament structural molecule activity NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 Breast(137;0.000301) AGCAGCATTTCCAAGGGCACC 0.537000 17 89 0 0 1 0 0 COL5A2 1290 broad.mit.edu 37 2 189926320 189926320 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:189926320C>T ENST00000374866.3 - 30 2273 c.1999G>A c.(1999-2001)Gaa>Aaa p.E667K NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 667 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) GGTCCTTGTTCTCCTCTTTCA 0.373000 19 34 0 0 1 0 0 ACTG1P17 283693 broad.mit.edu 37 15 83395821 83395821 + RNA SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr15:83395821G>A ENST00000560958.1 - 0 465 NR_036446.1 CCCCAAACATGATCTGAATCA 0.592000 8 5 0 0 1 0 0 SLC7A8 23428 broad.mit.edu 37 14 23597390 23597390 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr14:23597390G>A ENST00000316902.7 - 10 2004 c.1279C>T c.(1279-1281)Ccc>Tcc p.P427S SLC7A8_ENST00000422941.2_Missense_Mutation_p.P203S|SLC7A8_ENST00000529705.2_Missense_Mutation_p.P322S|SLC7A8_ENST00000453702.1_Missense_Mutation_p.P224S|SLC7A8_ENST00000469263.1_Intron NM_012244.3 NP_036376.2 Q9UHI5 LAT2_HUMAN solute carrier family 7 (amino acid transporter light chain, L system), member 8 427 blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin basolateral plasma membrane|cytoplasm|integral to plasma membrane neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1) 24 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.00809) L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120) TAGATGATGGGGAACAGCAGG 0.577000 17 5 0 0 1 0 0 UGT1A1 54658 broad.mit.edu 37 2 234678194 234678194 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:234678194G>A ENST00000360418.3 + 5 1322 c.1322G>A c.(1321-1323)gGa>gAa p.G441E UGT1A6_ENST00000406651.1_Missense_Mutation_p.G173E|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Missense_Mutation_p.G438E|UGT1A8_ENST00000373450.4_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A1_ENST00000305208.5_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A5_ENST00000373414.3_Intron P22309 UD11_HUMAN 0 bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process endoplasmic reticulum membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2) 30 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054) Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197) CAGCAGTCAGGAAGACAGATG 0.507000 17 31 0 0 1 0 0 CRB1 23418 broad.mit.edu 37 1 197390750 197390750 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:197390750C>T ENST00000367400.3 + 6 1927 c.1792C>T c.(1792-1794)Cca>Tca p.P598S CRB1_ENST00000543483.1_Intron|CRB1_ENST00000535699.1_Missense_Mutation_p.P529S|CRB1_ENST00000538660.1_Missense_Mutation_p.P598S|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000544212.1_Missense_Mutation_p.P79S|CRB1_ENST00000367399.2_Missense_Mutation_p.P486S NM_201253.2 NP_957705.1 P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 598 Laminin G-like 1. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 AGCTCCTACTCCACTTGAAAG 0.448000 20 95 0 0 1 0 0 ZPLD1 131368 broad.mit.edu 37 3 102175135 102175135 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:102175135C>T ENST00000306176.1 + 4 574 c.474C>T c.(472-474)atC>atT p.I158I ZPLD1_ENST00000491959.1_Silent_p.I142I|ZPLD1_ENST00000466937.1_Silent_p.I142I NM_175056.1 NP_778226.1 Q8TCW7 ZPLD1_HUMAN zona pellucida-like domain containing 1 142 ZP. integral to membrane central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3) 35 CACCAACAATCATCAGCTATC 0.378000 59 77 0 0 1 0 0 FDX1 2230 broad.mit.edu 37 11 110327751 110327751 + Silent SNP G G C TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:110327751G>C ENST00000260270.2 + 3 658 c.420G>C c.(418-420)ctG>ctC p.L140L NM_004109.4 NP_004100.1 P10109 ADX_HUMAN ferredoxin 1 140 2Fe-2S ferredoxin-type. electron transport chain|transport mitochondrial matrix 2 iron, 2 sulfur cluster binding|electron carrier activity|iron ion binding lung(2) 2 all_cancers(61;1.59e-12)|all_epithelial(67;8.38e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;5.27e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0384)|Colorectal(284;0.228) Mitotane(DB00648) TGCTCGATCTGGCATATGGAC 0.388000 41 73 0 0 1 0 0 SPATA31D1 389763 broad.mit.edu 37 9 84605378 84605378 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr9:84605378G>A ENST00000344803.2 + 3 326 c.279G>A c.(277-279)agG>agA p.R93R NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 AAGAGGAAAGGAAGCTGCTTT 0.418000 5 2 0 0 1 0 0 NRF1 4899 broad.mit.edu 37 7 129349023 129349023 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:129349023C>T ENST00000393232.1 + 6 832 c.715C>T c.(715-717)Ccc>Tcc p.P239S NRF1_ENST00000393231.3_Missense_Mutation_p.P239S|NRF1_ENST00000223190.4_Missense_Mutation_p.P239S|NRF1_ENST00000539636.1_Missense_Mutation_p.P78S|NRF1_ENST00000311967.2_Missense_Mutation_p.P239S|NRF1_ENST00000353868.4_Missense_Mutation_p.P239S|NRF1_ENST00000393230.2_Missense_Mutation_p.P239S NM_005011.3 NP_005002.3 Q16656 NRF1_HUMAN nuclear respiratory factor 1 239 generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1) 24 TGAAGATATCCCCTGGGCAAA 0.517000 69 111 0 0 1 0 0 LAMA3 3909 broad.mit.edu 37 18 21494816 21494816 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr18:21494816G>A ENST00000313654.9 + 58 7877 c.7636G>A c.(7636-7638)Gat>Aat p.D2546N LAMA3_ENST00000269217.6_Missense_Mutation_p.D937N|LAMA3_ENST00000399516.3_Missense_Mutation_p.D2490N|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.D881N NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 2546 Laminin G-like 1. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TTACCCACCTGATTTTAAAGT 0.303000 13 13 0 0 1 0 0 EPB41L1 2036 broad.mit.edu 37 20 34807691 34807691 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr20:34807691G>A ENST00000338074.2 + 19 2525 c.2364G>A c.(2362-2364)ggG>ggA p.G788G EPB41L1_ENST00000373946.3_Silent_p.G608G|EPB41L1_ENST00000373941.1_Silent_p.G787G|EPB41L1_ENST00000373950.2_Silent_p.G679G|EPB41L1_ENST00000441639.1_Silent_p.G686G|EPB41L1_ENST00000202028.5_Silent_p.G686G NM_001258329.1|NM_012156.2 NP_001245258.1|NP_036288.2 Q9H4G0 E41L1_HUMAN erythrocyte membrane protein band 4.1-like 1 788 Carboxyl-terminal (CTD). cortical actin cytoskeleton organization|synaptic transmission cytoskeleton|cytosol|extrinsic to membrane|plasma membrane actin binding|structural molecule activity breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 37 Breast(12;0.0239) AGATCATCGGGAAAGATGTCC 0.607000 21 77 0 0 1 0 0 PRSS1 5644 broad.mit.edu 37 7 142459791 142459791 + Missense_Mutation SNP G G A rs144403091 TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:142459791G>A ENST00000486171.1 + 4 426 c.409G>A c.(409-411)Gtg>Atg p.V137M PRSS1_ENST00000311737.7_Missense_Mutation_p.V123M P07477 TRY1_HUMAN protease, serine, 1 (trypsin 1) 123 Peptidase S1. T -> M (in a colorectal cancer sample; somatic mutation). digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2) 38 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) CAACGCCCGCGTGTCCACCAT 0.587000 59 86 0 0 1 0 0 TMEM74 157753 broad.mit.edu 37 8 109796697 109796697 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:109796697C>T ENST00000297459.3 - 2 809 c.631G>A c.(631-633)Gcc>Acc p.A211T TMEM74_ENST00000518838.1_Intron NM_153015.1 NP_694560.1 Q96NL1 TMM74_HUMAN transmembrane protein 74 211 autophagy autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(57;3.08e-10) ATCTCCCGGGCTGCCACAGTG 0.617000 11 45 0 0 1 0 0 CLDN25 644672 broad.mit.edu 37 11 113651042 113651042 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:113651042C>T ENST00000453129.2 + 1 574 c.525C>T c.(523-525)ttC>ttT p.F175F NM_001101389.1 NP_001094859.1 C9JDP6 CLD25_HUMAN claudin 25 175 integral to membrane|tight junction structural molecule activity large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2) 10 CTGGTATTTTCCTGGCTCTTG 0.547000 17 21 0 0 1 0 0 RUSC1 23623 broad.mit.edu 37 1 155291627 155291627 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:155291627C>T ENST00000368352.5 + 2 214 c.63C>T c.(61-63)tcC>tcT p.S21S RUSC1_ENST00000368354.3_Silent_p.S21S|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA NM_001105203.1 NP_001098673.1 Q9BVN2 RUSC1_HUMAN RUN and SH3 domain containing 1 21 cytoplasm|nucleolus SH3/SH2 adaptor activity breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1) 21 Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127) AGCACGTCTCCCTGGGCCTGC 0.617000 24 106 0 0 1 0 0 BAHCC1 57597 broad.mit.edu 37 17 79428633 79428633 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr17:79428633C>T ENST00000307745.7 + 30 6944 c.6944C>T c.(6943-6945)tCc>tTc p.S2315F RP11-1055B8.8_ENST00000572590.1_RNA GCCCGCCTGTCCGTGtcctct 0.692000 2 1 0 0 1 0 0 SH3RF2 153769 broad.mit.edu 37 5 145439538 145439538 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:145439538G>A ENST00000511217.1 + 8 1717 c.1665G>A c.(1663-1665)caG>caA p.Q555Q SH3RF2_ENST00000511705.1_3'UTR|SH3RF2_ENST00000359120.4_Silent_p.Q555Q Q8TEC5 SH3R2_HUMAN SH3 domain containing ring finger 2 555 ligase activity|protein phosphatase 1 binding|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1) 22 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AATTCTACCAGCCACAGGGGA 0.667000 34 36 0 0 1 0 0 RXFP3 51289 broad.mit.edu 37 5 33937213 33937213 + Missense_Mutation SNP A A G TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:33937213A>G ENST00000330120.3 + 1 723 c.368A>G c.(367-369)aAc>aGc p.N123S NM_016568.3 NP_057652.1 Q9NSD7 RL3R1_HUMAN relaxin/insulin-like family peptide receptor 3 123 integral to plasma membrane N-formyl peptide receptor activity endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3) 42 TTCGTCACCAACCTGGCGCTG 0.587000 37 110 0 0 1 0 0 UBE2Z 65264 broad.mit.edu 37 17 47000226 47000226 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr17:47000226C>T ENST00000360943.5 + 6 956 c.821C>T c.(820-822)tCc>tTc p.S274F NM_023079.4 NP_075567.2 Q9H832 UBE2Z_HUMAN ubiquitin-conjugating enzyme E2Z 274 apoptosis cytoplasm|nucleus ATP binding|ubiquitin-protein ligase activity ATGGAGAAGTCCTTTCTGGAG 0.468000 8 9 0 0 1 0 0 POF1B 79983 broad.mit.edu 37 X 84561288 84561288 + Missense_Mutation SNP G G C TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chrX:84561288G>C ENST00000262753.4 - 12 1361 c.1216C>G c.(1216-1218)Ctc>Gtc p.L406V POF1B_ENST00000373145.3_Missense_Mutation_p.L406V NM_024921.3 NP_079197.3 Q8WVV4 POF1B_HUMAN premature ovarian failure, 1B 406 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 CGAAGAGAGAGATTGTTTTCT 0.353000 43 14 0 0 1 0 0 CD2 914 broad.mit.edu 37 1 117297327 117297327 + Missense_Mutation SNP C C T rs142374557 byFrequency TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:117297327C>T ENST00000369478.3 + 2 244 c.136C>T c.(136-138)Cct>Tct p.P46S CD2_ENST00000369477.1_Missense_Mutation_p.P46S NM_001767.3 NP_001758.2 P06729 CD2_HUMAN CD2 molecule 46 Ig-like V-type. blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation integral to plasma membrane receptor activity NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1) 18 Lung SC(450;0.225) all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05) Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201) Alefacept(DB00092) CTTGGACATTCCTAGTTTTCA 0.378000 54 31 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92088127 92088127 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:92088127C>T ENST00000298047.6 + 1 2866 c.2849C>T c.(2848-2850)cCt>cTt p.P950L FAT3_ENST00000409404.2_Missense_Mutation_p.P950L|FAT3_ENST00000525166.1_Missense_Mutation_p.P800L|FAT3_ENST00000541502.1_Missense_Mutation_p.P950L Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 950 Cadherin 9. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GAAGATCTCCCTGTTGGCACT 0.433000 TCGA Ovarian(4;0.039) 38 44 0 0 1 0 0 PCDHB11 56125 broad.mit.edu 37 5 140580520 140580520 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:140580520C>T ENST00000354757.3 + 1 1173 c.1173C>T c.(1171-1173)ttC>ttT p.F391F PCDHB11_ENST00000536699.1_Silent_p.F26F NM_018931.2 NP_061754.1 Q9Y5F2 PCDBB_HUMAN 391 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACCTCCCATTCGTGCTAAAAT 0.453000 39 71 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152420423 152420423 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:152420423C>T ENST00000397345.3 - 118 18695 c.18493G>A c.(18493-18495)Gag>Aag p.E6165K NEB_ENST00000603639.1_Missense_Mutation_p.E6165K|NEB_ENST00000604864.1_Missense_Mutation_p.E6165K|NEB_ENST00000409198.1_Missense_Mutation_p.E4464K|NEB_ENST00000172853.10_Missense_Mutation_p.E4464K|NEB_ENST00000427231.2_Missense_Mutation_p.E6165K NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 6159 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) TTGGTGCCCTCCCACGCCCCT 0.433000 3 8 0 0 1 0 0 RPH3A 22895 broad.mit.edu 37 12 113304595 113304595 + Missense_Mutation SNP A A C TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:113304595A>C ENST00000389385.4 + 7 891 c.394A>C c.(394-396)Aac>Cac p.N132H RPH3A_ENST00000420983.2_Missense_Mutation_p.N132H|RPH3A_ENST00000548866.1_Missense_Mutation_p.N83H|RPH3A_ENST00000415485.3_Missense_Mutation_p.N132H|RPH3A_ENST00000543106.2_Missense_Mutation_p.N132H|RPH3A_ENST00000447659.2_Missense_Mutation_p.N83H|RPH3A_ENST00000551052.1_Missense_Mutation_p.N128H NM_001143854.1|NM_014954.3 NP_001137326.1|NP_055769.2 Q9Y2J0 RP3A_HUMAN rabphilin 3A homolog (mouse) 132 RabBD. intracellular protein transport cell junction|synaptic vesicle Rab GTPase binding|transporter activity|zinc ion binding breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1) 47 BRCA - Breast invasive adenocarcinoma(302;0.00453) GGAGACCAACAACCGCCTGCA 0.567000 3 5 0 0 1 0 0 C12orf40 283461 broad.mit.edu 37 12 40114657 40114657 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:40114657G>A ENST00000324616.5 + 13 1717 c.1563G>A c.(1561-1563)aaG>aaA p.K521K NM_001031748.2 NP_001026918.2 Q86WS4 CL040_HUMAN chromosome 12 open reading frame 40 521 breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2) 38 TCAAAACCAAGGAAAAAATGA 0.299000 17 40 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90052857 90052857 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:90052857C>T ENST00000405460.2 + 57 11915 c.11819C>T c.(11818-11820)cCt>cTt p.P3940L NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 3940 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) CTTCAAGTTCCTGTAGTCCGG 0.448000 25 28 0 0 1 0 0 SACS 26278 broad.mit.edu 37 13 23905402 23905402 + Missense_Mutation SNP T T C TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr13:23905402T>C ENST00000382298.3 - 10 13201 c.12613A>G c.(12613-12615)Att>Gtt p.I4205V SACS_ENST00000382292.3_Missense_Mutation_p.I4205V|SACS_ENST00000402364.1_Missense_Mutation_p.I3455V NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 4205 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) TGTACAATAATTGCATATGTG 0.343000 33 30 0 0 1 0 0 PLK4 10733 broad.mit.edu 37 4 128807120 128807120 + Missense_Mutation SNP T T A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr4:128807120T>A ENST00000270861.5 + 5 869 c.595T>A c.(595-597)Tgt>Agt p.C199S PLK4_ENST00000513090.1_Missense_Mutation_p.C167S|PLK4_ENST00000507249.1_Missense_Mutation_p.C199S|PLK4_ENST00000515069.1_Missense_Mutation_p.C199S|PLK4_ENST00000514379.1_Missense_Mutation_p.C158S NM_014264.4 NP_055079.3 O00444 PLK4_HUMAN polo-like kinase 4 199 Protein kinase. G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation centriole|cleavage furrow|cytosol|nucleolus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 31 GTCCCTGGGCTGTATGTTTTA 0.403000 72 32 0 0 1 0 0 C1orf177 163747 broad.mit.edu 37 1 55282732 55282732 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:55282732G>A ENST00000358193.3 + 9 1175 c.1121G>A c.(1120-1122)cGa>cAa p.R374Q C1orf177_ENST00000371273.3_Missense_Mutation_p.R374Q NM_152607.2 NP_689820.2 Q3ZCV2 CA177_HUMAN chromosome 1 open reading frame 177 374 breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2) 17 CAGCGATATCGATCCCTATTC 0.592000 11 43 0 0 1 0 0 NETO2 81831 broad.mit.edu 37 16 47143405 47143405 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr16:47143405G>A ENST00000562435.1 - 7 1256 c.872C>T c.(871-873)tCc>tTc p.S291F NETO2_ENST00000303155.5_Missense_Mutation_p.S284F NM_018092.4 NP_060562.3 Q8NC67 NETO2_HUMAN neuropilin (NRP) and tolloid (TLL)-like 2 291 CUB 2. integral to membrane receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 29 all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174) CTCCACAAAGGAAGTAAAGAG 0.353000 HNSCC(25;0.065) 24 40 0 0 1 0 0 WFDC10B 280664 broad.mit.edu 37 20 44314568 44314568 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr20:44314568C>T ENST00000330523.5 - 3 294 c.64G>A c.(64-66)Gga>Aga p.G22R WFDC10B_ENST00000335769.2_Intron NM_172006.2 NP_742003.1 Q8IUB3 WF10B_HUMAN WAP four-disulfide core domain 10B 22 extracellular region peptidase inhibitor activity lung(2)|ovary(1)|stomach(1) 4 Myeloproliferative disorder(115;0.0122) TCACGGTATCCTCCCTGGGCC 0.582000 11 25 0 0 1 0 0 CDH10 1008 broad.mit.edu 37 5 24509759 24509759 + Missense_Mutation SNP A A C TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:24509759A>C ENST00000264463.4 - 7 1679 c.1172T>G c.(1171-1173)tTt>tGt p.F391C NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 391 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) ATGAACTTCAAACAGATAGGA 0.388000 HNSCC(23;0.051) 8 58 0 0 1 0 0 FAM220A 84792 broad.mit.edu 37 7 6370260 6370260 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:6370260G>A ENST00000313324.4 - 2 993 c.526C>T c.(526-528)Ccc>Tcc p.P176S NM_001037163.1 NP_001032240.1 Q7Z4H9 SIPAR_HUMAN family with sequence similarity 220, member A 176 nucleus AGACCCTTGGGAAAAGCACTT 0.562000 36 43 0 0 1 0 0 MAPK4 5596 broad.mit.edu 37 18 48255617 48255617 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr18:48255617C>T ENST00000400384.2 + 6 2193 c.1157C>T c.(1156-1158)tCg>tTg p.S386L MAPK4_ENST00000592595.1_3'UTR|MAPK4_ENST00000540640.1_Missense_Mutation_p.S175L NM_002747.3 NP_002738.2 P31152 MK04_HUMAN mitogen-activated protein kinase 4 386 cell cycle ATP binding|MAP kinase activity lung(4)|skin(3)|upper_aerodigestive_tract(1) 8 Colorectal(6;0.0297) Colorectal(21;0.156) CGCGCGGGTTCGGCGCCACTG 0.697000 30 33 0 0 1 0 0 PM20D1 148811 broad.mit.edu 37 1 205814611 205814611 + Nonsense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:205814611G>A ENST00000367136.4 - 3 375 c.331C>T c.(331-333)Caa>Taa p.Q111* PM20D1_ENST00000460624.1_5'UTR NM_152491.4 NP_689704.4 Q6GTS8 P20D1_HUMAN peptidase M20 domain containing 1 111 extracellular region metal ion binding|peptidase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1) 28 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0252) TCCGAGCCTTGGATAGTGAAC 0.542000 28 125 0 0 1 0 0 TNRC18 84629 broad.mit.edu 37 7 5428841 5428841 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:5428841G>A ENST00000399537.4 - 5 962 c.614C>T c.(613-615)cCa>cTa p.P205L TNRC18_ENST00000430969.1_Missense_Mutation_p.P205L O15417 TNC18_HUMAN trinucleotide repeat containing 18 205 DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8) 11 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) CTCCTTGGCTGGACCGTCCCG 0.796000 3 2 0 0 1 0 0 OR52E2 119678 broad.mit.edu 37 11 5080848 5080848 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:5080848G>A ENST00000321522.2 - 1 9 c.10C>T c.(10-12)Ccc>Tcc p.P4S NM_001005164.2 NP_001005164.2 Q8NGJ4 O52E2_HUMAN olfactory receptor, family 52, subfamily E, member 2 4 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(13)|ovary(2)|skin(3) 20 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191) GTGTCATTGGGAAGGAACATC 0.498000 27 36 0 0 1 0 0 KBTBD7 84078 broad.mit.edu 37 13 41768146 41768146 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr13:41768146G>A ENST00000379483.3 - 1 556 c.248C>T c.(247-249)tCc>tTc p.S83F NM_032138.4 NP_115514.2 Q8WVZ9 KBTB7_HUMAN kelch repeat and BTB (POZ) domain containing 7 83 BTB. protein binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367) all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669) GCGATTGCAGGAAAAGAGGCG 0.607000 40 66 0 0 1 0 0 DPYSL2 1808 broad.mit.edu 37 8 26501043 26501043 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:26501043C>T ENST00000311151.5 + 9 1312 c.900C>T c.(898-900)gcC>gcT p.A300A DPYSL2_ENST00000523027.1_Silent_p.A264A|DPYSL2_ENST00000521913.1_Silent_p.A264A NM_001386.5 NP_001377.1 Q16555 DPYL2_HUMAN dihydropyrimidinase-like 2 300 axon guidance|pyrimidine base catabolic process|signal transduction cytosol dihydropyrimidinase activity|protein binding breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1) 20 all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183) AGGCTGCTGCCTTTGTCACCT 0.557000 21 44 0 0 1 0 0 HRC 3270 broad.mit.edu 37 19 49654791 49654791 + Missense_Mutation SNP G G T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:49654791G>T ENST00000252825.4 - 5 2232 c.2046C>A c.(2044-2046)ttC>ttA p.F682L HRC_ENST00000595625.1_Missense_Mutation_p.F659L NM_002152.2 NP_002143.1 P23327 SRCH_HUMAN histidine rich calcium binding protein 682 muscle contraction sarcoplasmic reticulum lumen calcium ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2) 34 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622) GGGACGAGGAGAAATAGTCAA 0.483000 9 19 0.00010058 0.000100933 1 1 0 MUC16 94025 broad.mit.edu 37 19 9090482 9090482 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:9090482G>A ENST00000397910.4 - 1 1536 c.1333C>T c.(1333-1335)Cct>Tct p.P445S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 445 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TCTTCTCCAGGAGCAGAGGTC 0.478000 65 77 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179432270 179432270 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:179432270G>A ENST00000589042.1 - 326 78813 c.78589C>T c.(78589-78591)Cca>Tca p.P26197S TTN_ENST00000342992.6_Missense_Mutation_p.P23629S|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P24556S|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P17132S|TTN_ENST00000342175.6_Missense_Mutation_p.P17324S|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P17257S|TTN-AS1_ENST00000456053.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 24556 Fibronectin type-III 90. 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) CTGAATTTTGGATCCATTGAA 0.438000 15 21 0 0 1 0 0 STAP2 55620 broad.mit.edu 37 19 4328766 4328766 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:4328766G>A ENST00000600324.1 - 6 563 c.496C>T c.(496-498)Ctg>Ttg p.L166L STAP2_ENST00000594605.1_Silent_p.L166L NM_017720.2 NP_060190.2 Q9UGK3 STAP2_HUMAN signal transducing adaptor family member 2 166 SH2. cytoplasm|nucleus protein binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10) 23 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18) TAGCGCTCCAGGAGCAGTTGT 0.706000 6 6 0 0 1 0 0 BIRC6 57448 broad.mit.edu 37 2 32768346 32768346 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:32768346G>A ENST00000421745.2 + 62 12464 c.12330G>A c.(12328-12330)aaG>aaA p.K4110K NM_016252.3 NP_057336.3 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 4110 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) CTCAGGAAAAGCCGAAGGATA 0.428000 32 41 0 0 1 0 0 AMELX 265 broad.mit.edu 37 X 11316847 11316847 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chrX:11316847C>T ENST00000380712.3 + 6 434 c.366C>T c.(364-366)tcC>tcT p.S122S AMELX_ENST00000380714.3_Silent_p.S108S|ARHGAP6_ENST00000380732.3_Intron|ARHGAP6_ENST00000337414.4_Intron|ARHGAP6_ENST00000380736.1_Intron|ARHGAP6_ENST00000380718.1_Intron|ARHGAP6_ENST00000413512.3_Intron|AMELX_ENST00000348912.4_Silent_p.S92S NM_182680.1 NP_872621.1 Q99217 AMELX_HUMAN amelogenin, X-linked 108 cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction proteinaceous extracellular matrix cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel endometrium(3)|kidney(2)|large_intestine(1)|lung(9) 15 GCCAACACTCCATGACTCCAA 0.637000 65 12 0 0 1 0 0 CCDC88C 440193 broad.mit.edu 37 14 91780201 91780201 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr14:91780201G>A ENST00000389857.6 - 15 2045 c.1959C>T c.(1957-1959)tcC>tcT p.S653S NM_001080414.3 NP_001073883.2 Q9P219 DAPLE_HUMAN coiled-coil domain containing 88C 653 microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway cytoplasm|insoluble fraction microtubule binding|PDZ domain binding|protein self-association central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1) 24 all_cancers(154;0.0468) CTGTCTCCAGGGAGGTCACCT 0.632000 13 5 0 0 1 0 0 GIMAP8 155038 broad.mit.edu 37 7 150171641 150171641 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:150171641G>A ENST00000307271.3 + 4 1798 c.1224G>A c.(1222-1224)gaG>gaA p.E408E NM_175571.2 NP_783161.1 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 408 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) GAGAAGAAGAGCAAAGGCAGG 0.418000 42 60 0 0 1 0 0 IGFBP6 3489 broad.mit.edu 37 12 53495900 53495900 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:53495900G>A ENST00000548547.1 + 4 948 c.666G>A c.(664-666)ggG>ggA p.G222G IGFBP6_ENST00000549628.1_3'UTR|IGFBP6_ENST00000301464.3_Silent_p.G224G P24592 IBP6_HUMAN insulin-like growth factor binding protein 6 224 Thyroglobulin type-1. negative regulation of cell proliferation|regulation of cell growth|signal transduction large_intestine(1)|lung(3)|ovary(1)|pancreas(1) 6 CCCTGCCAGGGTCTCCAGATG 0.642000 9 35 0 0 1 0 0 MIR587 693172 broad.mit.edu 37 6 107232029 107232029 + RNA SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:107232029G>A ENST00000384845.1 + 0 30 NR_030314.1 cataggtgatgagtcacaggg 0.512000 55 48 0 0 1 0 0 WBP2NL 164684 broad.mit.edu 37 22 42422829 42422829 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr22:42422829C>T ENST00000328823.9 + 6 605 c.574C>T c.(574-576)Cca>Tca p.P192S WBP2NL_ENST00000543212.1_Missense_Mutation_p.P118S NM_152613.2 NP_689826.2 Q6ICG8 WBP2L_HUMAN WBP2 N-terminal like 192 10 X 7 AA tandem repeat of Y-G-X-P-P-X-G.|Gly-rich. egg activation|male pronucleus assembly|meiosis perinuclear theca WW domain binding breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1) 14 ATACGGAGCCCCACCTGCAGG 0.532000 79 37 0 0 1 0 0 GLRA3 8001 broad.mit.edu 37 4 175688114 175688114 + Splice_Site SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr4:175688114C>T ENST00000274093.3 - 3 769 c.267_splice c.e3+1 p.M89_splice GLRA3_ENST00000340217.5_Splice_Site_p.M89_splice NM_006529.2 NP_006520.2 O75311 GLRA3_HUMAN glycine receptor, alpha 3 89 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 35 Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107) all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421) Glycine(DB00145) AAATGCCTACCATGGTCGTCT 0.353000 9 45 0 0 1 0 0 LCN9 392399 broad.mit.edu 37 9 138556626 138556626 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr9:138556626G>A ENST00000277526.3 + 3 292 c.292G>A c.(292-294)Gaa>Aaa p.E98K LCN9_ENST00000430290.2_3'UTR NM_001001676.1 NP_001001676.1 Q8WX39 LCN9_HUMAN lipocalin 9 98 extracellular region pheromone binding|transporter activity kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1) 6 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05) GAAGAATGGGGAATACTCCAT 0.597000 2 1 0 0 1 0 0 ACSM4 341392 broad.mit.edu 37 12 7469805 7469805 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:7469805G>A ENST00000399422.4 + 4 741 c.693G>A c.(691-693)ggG>ggA p.G231G NM_001080454.1 NP_001073923.1 P0C7M7 ACSM4_HUMAN acyl-CoA synthetase medium-chain family member 4 231 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding endometrium(6)|kidney(1)|lung(14) 21 TCACCAGTGGGACCACAGGCT 0.498000 9 6 0 0 1 0 0 TYW1 55253 broad.mit.edu 37 7 66520842 66520842 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:66520842C>T ENST00000359626.5 + 9 1287 c.1123C>T c.(1123-1125)Cac>Tac p.H375Y NM_018264.2 NP_060734.2 Q9NV66 TYW1_HUMAN tRNA-yW synthesizing protein 1 homolog (S. cerevisiae) 375 tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2) 46 Lung NSC(55;0.0846)|all_lung(88;0.183) GATTGGGAGCCACTCGGGGGT 0.353000 9 17 0 0 1 0 0 KRT1 3848 broad.mit.edu 37 12 53069518 53069518 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:53069518C>T ENST00000252244.3 - 8 1544 c.1486G>A c.(1486-1488)Gaa>Aaa p.E496K NM_006121.3 NP_006112.3 P04264 K2C1_HUMAN keratin 1 496 Tail. complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress plasma membrane protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3) 39 GGGGCACATTCTCCAGACATC 0.498000 25 26 0 0 1 0 0 CAMK4 814 broad.mit.edu 37 5 110820146 110820146 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:110820146G>A ENST00000282356.4 + 11 1802 c.1404G>A c.(1402-1404)gtG>gtA p.V468V CAMK4_ENST00000512453.1_Silent_p.V468V|CAMK4_ENST00000512890.1_3'UTR NM_001744.4 NP_001735.1 Q16566 KCC4_HUMAN calcium/calmodulin-dependent protein kinase IV 468 activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission cytosol|nucleoplasm ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1) 30 all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109) AGCAAGATGTGATCCTGCCAG 0.498000 15 20 0 0 1 0 0 EEF1G 1937 broad.mit.edu 37 11 62340067 62340067 + Missense_Mutation SNP G G A rs11549641 TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:62340067G>A ENST00000378019.3 - 2 400 c.310C>T c.(310-312)Cct>Tct p.P104S EEF1G_ENST00000329251.4_Missense_Mutation_p.P54S|MIR3654_ENST00000496634.2_3'UTR|EEF1G_ENST00000532986.1_5'UTR P26641 EF1G_HUMAN eukaryotic translation elongation factor 1 gamma 54 GST C-terminal. response to virus cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 TTGCCGGCAGGAAATTTGCGG 0.582000 50 84 0 0 1 0 0 PRSS21 10942 broad.mit.edu 37 16 2871029 2871029 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr16:2871029C>T ENST00000455114.1 + 5 724 c.618C>T c.(616-618)ttC>ttT p.F206F PRSS21_ENST00000575739.1_Intron|PRSS21_ENST00000450020.3_Silent_p.F208F|PRSS21_ENST00000005995.3_Silent_p.F208F NM_001270452.1|NM_006799.3|NM_144956.2 NP_001257381.1|NP_006790.1|NP_659205.1 Q9Y6M0 TEST_HUMAN protease, serine, 21 (testisin) 208 Peptidase S1. proteolysis anchored to membrane|cytoplasm|membrane fraction|plasma membrane serine-type endopeptidase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(2) 15 ACCACCTCTTCCTCAAGTACA 0.542000 148 231 0 0 1 0 0 SACS 26278 broad.mit.edu 37 13 23912907 23912907 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr13:23912907G>A ENST00000382298.3 - 10 5696 c.5108C>T c.(5107-5109)aCc>aTc p.T1703I SACS_ENST00000382292.3_Missense_Mutation_p.T1703I|SACS_ENST00000402364.1_Missense_Mutation_p.T953I NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 1703 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) ACTGGGGTTGGTTTCCTCAAT 0.353000 10 32 0 0 1 0 0 FOXM1 2305 broad.mit.edu 37 12 2973534 2973534 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:2973534C>T ENST00000342628.2 - 8 1331 c.1218G>A c.(1216-1218)atG>atA p.M406I FOXM1_ENST00000359843.3_Missense_Mutation_p.M406I|FOXM1_ENST00000361953.3_Missense_Mutation_p.M391I NM_202002.2 NP_973731.1 Q08050 FOXM1_HUMAN forkhead box M1 406 cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis cytoplasm|transcription factor complex DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3) 24 OV - Ovarian serous cystadenocarcinoma(31;0.000622) GCTCTGAGCTCATGAGGGAAG 0.562000 75 57 0 0 1 0 0 SLIT2 9353 broad.mit.edu 37 4 20490460 20490460 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr4:20490460C>T ENST00000504154.1 + 8 882 c.630C>T c.(628-630)aaC>aaT p.N210N SLIT2_ENST00000273739.5_Silent_p.N210N|SLIT2_ENST00000503823.1_Silent_p.N210N|SLIT2_ENST00000503837.1_Silent_p.N210N NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 210 LRRCT 1. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 ATTCAAACAACCTGTATTGTG 0.448000 91 89 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179567356 179567356 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:179567356G>A ENST00000589042.1 - 107 30482 c.30258C>T c.(30256-30258)aaC>aaT p.N10086N TTN_ENST00000342992.6_Silent_p.N8842N|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.N9769N|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 9769 Glu-rich. 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) TCACCACGATGTTCTGTATGC 0.393000 17 45 0 0 1 0 0 OR1L6 392390 broad.mit.edu 37 9 125512113 125512113 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr9:125512113G>A ENST00000373684.1 + 1 95 c.95G>A c.(94-96)aGg>aAg p.R32K Q8NGR2 OR1L6_HUMAN olfactory receptor, family 1, subfamily L, member 6 32 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1) 12 ACCCTATCCAGGAAGTCCAGA 0.483000 76 25 0 0 1 0 0 DRC1 92749 broad.mit.edu 37 2 26667169 26667169 + Missense_Mutation SNP A A G TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:26667169A>G ENST00000288710.2 + 9 1182 c.1108A>G c.(1108-1110)Acc>Gcc p.T370A DRC1_ENST00000483675.1_3'UTR NM_145038.2 NP_659475.2 dynein regulatory complex subunit 1 homolog (Chlamydomonas) CCAGTCTCTAACCTCGGACTA 0.428000 8 30 0 0 1 0 0 OR2A25 392138 broad.mit.edu 37 7 143772039 143772039 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:143772039C>T ENST00000408898.2 + 1 765 c.727C>T c.(727-729)Cac>Tac p.H243Y NM_001004488.1 NP_001004488.1 A4D2G3 O2A25_HUMAN olfactory receptor, family 2, subfamily A, member 25 243 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Melanoma(164;0.0783) CTGCTCCTCCCACCTCTGTGT 0.463000 27 108 0 0 1 0 0 KAL1 3730 broad.mit.edu 37 X 8507797 8507797 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chrX:8507797G>A ENST00000262648.3 - 10 1506 c.1357C>T c.(1357-1359)Ccc>Tcc p.P453S NM_000216.2 NP_000207.2 P23352 KALM_HUMAN Kallmann syndrome 1 sequence 453 Fibronectin type-III 3. axon guidance|cell adhesion|cellular component movement extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1) 32 TTGACAGTGGGATCTATAATG 0.473000 6 13 0 0 1 0 0 CTNNA1 1495 broad.mit.edu 37 5 138117707 138117707 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:138117707C>T ENST00000302763.7 + 2 184 c.94C>T c.(94-96)Ctt>Ttt p.L32F CTNNA1_ENST00000355078.5_5'UTR|CTNNA1_ENST00000518825.1_Missense_Mutation_p.L32F NM_001903.2 NP_001894.2 P35221 CTNA1_HUMAN catenin (cadherin-associated protein), alpha 1, 102kDa 32 Involved in homodimerization. adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation actin cytoskeleton|catenin complex|cytosol beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 52 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) GTTGGAGCCTCTTGTTACACA 0.408000 13 21 0 0 1 0 0 HTR3A 3359 broad.mit.edu 37 11 113852011 113852011 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:113852011C>T ENST00000504030.2 + 4 796 c.351C>T c.(349-351)gtC>gtT p.V117V HTR3A_ENST00000535865.1_5'UTR|HTR3A_ENST00000299961.5_Silent_p.V102V|HTR3A_ENST00000506841.2_Silent_p.V117V|HTR3A_ENST00000375498.2_Silent_p.V123V|HTR3A_ENST00000355556.2_Silent_p.V123V P46098 5HT3A_HUMAN 5-hydroxytryptamine (serotonin) receptor 3A, ionotropic 117 digestion|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 36 all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191) Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199) GCATCTGGGTCCCGGACATTC 0.532000 16 26 0 0 1 0 0 RPSAP58 388524 broad.mit.edu 37 19 24010559 24010559 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:24010559C>T ENST00000496398.1 + 4 1019 c.596C>T c.(595-597)cCt>cTt p.P199L RPSAP58_ENST00000354585.4_Missense_Mutation_p.P199L|RP11-255H23.4_ENST00000599944.1_lincRNA|RP11-255H23.2_ENST00000471224.1_RNA endometrium(1)|kidney(5)|lung(2)|prostate(1)|urinary_tract(1) 10 GAGGTCATGCCTGATCTGTAC 0.522000 9 13 0 0 1 0 0 NLRP11 204801 broad.mit.edu 37 19 56329477 56329477 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:56329477C>T ENST00000443188.1 - 4 774 c.64G>A c.(64-66)Gaa>Aaa p.E22K NLRP11_ENST00000589093.1_Missense_Mutation_p.E22K|NLRP11_ENST00000592953.1_Intron|NLRP11_ENST00000360133.3_Missense_Mutation_p.E22K|NLRP11_ENST00000589824.2_Missense_Mutation_p.E22K NM_145007.3 NP_659444.2 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 22 DAPIN. ATP binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) CTCTGAAATTCCTTGTCACTG 0.433000 11 30 0 0 1 0 0 OR10Z1 128368 broad.mit.edu 37 1 158576567 158576567 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:158576567C>T ENST00000361284.1 + 1 339 c.339C>T c.(337-339)ttC>ttT p.F113F NM_001004478.1 NP_001004478.1 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, member 1 113 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4) 37 all_hematologic(112;0.0378) CTAACTGCTTCCTTCTGGCTG 0.557000 103 42 0 0 1 0 0 LECT1 11061 broad.mit.edu 37 13 53282826 53282826 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr13:53282826C>T ENST00000448904.2 - 6 744 c.634G>A c.(634-636)Gaa>Aaa p.E212K LECT1_ENST00000377962.3_Missense_Mutation_p.E212K NM_001011705.1|NM_007015.2 NP_001011705.1|NP_008946.1 O75829 LECT1_HUMAN leukocyte cell derived chemotaxin 1 212 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) TCTCTTCTTTCCCTCTGGATT 0.368000 26 54 0 0 1 0 0 EPX 8288 broad.mit.edu 37 17 56272394 56272394 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr17:56272394C>T ENST00000225371.5 + 6 774 c.664C>T c.(664-666)Ctc>Ttc p.L222F NM_000502.4 NP_000493.1 P11678 PERE_HUMAN eosinophil peroxidase 222 hydrogen peroxide catabolic process heme binding|peroxidase activity|protein binding p.L222V(1) breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 48 TGGCCGAGCCCTCATGTTCAT 0.597000 23 30 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124336119 124336119 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr10:124336119C>T ENST00000338354.3 + 7 594 c.488C>T c.(487-489)cCc>cTc p.P163L DMBT1_ENST00000344338.3_Missense_Mutation_p.P163L|DMBT1_ENST00000368955.3_Missense_Mutation_p.P163L|DMBT1_ENST00000359586.6_Missense_Mutation_p.P163L|DMBT1_ENST00000330163.4_Missense_Mutation_p.P163L|DMBT1_ENST00000368909.3_Missense_Mutation_p.P163L|DMBT1_ENST00000368956.2_Missense_Mutation_p.P163L Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 163 SRCR 1. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) GGCTCAGGACCCATTGCCCTG 0.587000 6 126 0 0 1 0 0 PCDHGA5 56110 broad.mit.edu 37 5 140744029 140744029 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:140744029C>T ENST00000518069.1 + 1 132 c.132C>T c.(130-132)ttC>ttT p.F44F PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron NM_018918.2|NM_032054.1 NP_061741.1|NP_114443.1 endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3) 18 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAGGCTCCTTCGTCGGCAACA 0.642000 33 39 0 0 1 0 0 NLRP11 204801 broad.mit.edu 37 19 56321602 56321602 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:56321602G>A ENST00000443188.1 - 5 1084 c.374C>T c.(373-375)tCg>tTg p.S125L NLRP11_ENST00000589093.1_Missense_Mutation_p.S125L|NLRP11_ENST00000592953.1_Missense_Mutation_p.S26L|NLRP11_ENST00000360133.3_Missense_Mutation_p.S125L|NLRP11_ENST00000589824.2_Missense_Mutation_p.S125L NM_145007.3 NP_659444.2 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 125 ATP binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) CACATCTGACGAAACGTCACG 0.383000 3 13 0 0 1 0 0 MFSD4 148808 broad.mit.edu 37 1 205555205 205555205 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:205555205C>T ENST00000367147.4 + 6 1112 c.1019C>T c.(1018-1020)cCc>cTc p.P340L MFSD4_ENST00000536357.1_Missense_Mutation_p.P253L|MFSD4_ENST00000539267.1_Missense_Mutation_p.P340L NM_181644.4 NP_857595.3 Q8N468 MFSD4_HUMAN major facilitator superfamily domain containing 4 340 transmembrane transport integral to membrane central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0908) GTGGAGAAGCCCCTGTCTGTG 0.597000 11 58 0 0 1 0 0 CDH10 1008 broad.mit.edu 37 5 24491823 24491823 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:24491823C>T ENST00000264463.4 - 11 2245 c.1738G>A c.(1738-1740)Ggc>Agc p.G580S CDH10_ENST00000502921.1_5'UTR NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 580 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) GTCAGTGTGCCTGTGCTGCTC 0.493000 HNSCC(23;0.051) 8 61 0 0 1 0 0 RGS3 5998 broad.mit.edu 37 9 116359103 116359103 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr9:116359103C>T ENST00000374140.2 + 26 3676 c.3467C>T c.(3466-3468)aCg>aTg p.T1156M RGS3_ENST00000462403.1_Missense_Mutation_p.T269M|RGS3_ENST00000350696.5_Missense_Mutation_p.T1156M|RGS3_ENST00000374134.3_Missense_Mutation_p.T477M|RGS3_ENST00000342620.5_Missense_Mutation_p.T126M|RGS3_ENST00000343817.5_Missense_Mutation_p.T875M|RGS3_ENST00000394646.3_Missense_Mutation_p.T549M|RGS3_ENST00000462143.1_Missense_Mutation_p.T477M NM_144488.4 NP_652759.3 P49796 RGS3_HUMAN regulator of G-protein signaling 3 1156 RGS. inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway cytosol|nucleus|plasma membrane GTPase activator activity|signal transducer activity p.T269M(1)|p.T1052M(1)|p.T1156M(1) cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 48 CAGAGCGTCACGCGGGGCTGC 0.612000 30 20 0 0 1 0 0 CDH19 28513 broad.mit.edu 37 18 64235727 64235727 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr18:64235727G>A ENST00000262150.2 - 3 708 c.416C>T c.(415-417)tCg>tTg p.S139L CDH19_ENST00000540086.1_Missense_Mutation_p.S139L NM_021153.2 NP_066976.1 Q9H159 CAD19_HUMAN cadherin 19, type 2 139 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7) 61 Esophageal squamous(42;0.0132) ATTGATATCCGAAACTTTGAT 0.418000 31 49 0 0 1 0 0 DHX37 57647 broad.mit.edu 37 12 125437078 125437078 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:125437078G>A ENST00000308736.2 - 21 2832 c.2734C>T c.(2734-2736)Ccc>Tcc p.P912S DHX37_ENST00000544745.1_Missense_Mutation_p.P699S NM_032656.3 NP_116045.2 Q8IY37 DHX37_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 37 912 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3) 65 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653) TGCATCTTGGGATCCACGAAG 0.662000 7 37 0 0 1 0 0 PCDH17 27253 broad.mit.edu 37 13 58240915 58240915 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr13:58240915G>A ENST00000377918.3 + 3 2771 c.2745G>A c.(2743-2745)agG>agA p.R915R NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 915 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) TGTCTGTTAGGGAGGCACTCA 0.473000 25 36 0 0 1 0 0 EPHA7 2045 broad.mit.edu 37 6 94066667 94066667 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:94066667G>A ENST00000369303.4 - 5 1276 c.1092C>T c.(1090-1092)acC>acT p.T364T NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 364 Fibronectin type-III 1. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) ATATTCTGTAGGTCACATCGT 0.483000 12 51 0 0 1 0 0 AHDC1 27245 broad.mit.edu 37 1 27878359 27878359 + Missense_Mutation SNP G G C TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:27878359G>C ENST00000374011.2 - 6 1236 c.268C>G c.(268-270)Cgt>Ggt p.R90G AHDC1_ENST00000247087.5_Missense_Mutation_p.R90G|AHDC1_ENST00000482400.2_5'UTR NM_001029882.2 NP_001025053.1 Q5TGY3 AHDC1_HUMAN AT hook, DNA binding motif, containing 1 90 Pro-rich. DNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291) GAGACAGGACGGGCTGCCCGT 0.731000 27 116 0 0 1 0 0 NUP98 4928 broad.mit.edu 37 11 3735152 3735152 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:3735152G>A ENST00000324932.7 - 19 2893 c.2473C>T c.(2473-2475)Cgc>Tgc p.R825C NUP98_ENST00000359171.4_Missense_Mutation_p.R825C|NUP98_ENST00000355260.3_Missense_Mutation_p.R825C|NUP98_ENST00000397004.4_Missense_Mutation_p.R825C|NUP98_ENST00000397007.4_Missense_Mutation_p.R842C NM_016320.4|NM_139132.3 NP_057404.2|NP_624358.2 P52948 NUP98_HUMAN nucleoporin 98kDa 842 Peptidase S59. carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) TCAGCAAGGCGATCTGGGCTC 0.403000 T """HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11""" AML 26 39 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 70897082 70897082 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr16:70897082G>A ENST00000393567.2 - 68 11625 c.11475C>T c.(11473-11475)ttC>ttT p.F3825F NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 3825 p.F3776F(1)|p.F3824F(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) TAATCACATCGAACCTGCAAA 0.448000 10 19 0 0 1 0 0 DHX35 60625 broad.mit.edu 37 20 37634987 37634987 + Missense_Mutation SNP C C T rs149553143 TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr20:37634987C>T ENST00000252011.3 + 12 1243 c.1210C>T c.(1210-1212)Cgc>Tgc p.R404C DHX35_ENST00000373325.2_Missense_Mutation_p.R404C|DHX35_ENST00000373323.4_Missense_Mutation_p.R373C NM_021931.3 NP_068750.2 Q9H5Z1 DHX35_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 35 404 Helicase C-terminal. catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2) 40 Myeloproliferative disorder(115;0.00878) AAAATGTTATCGCCTTTATAC 0.483000 57 90 0 0 1 0 0 ASPH 444 broad.mit.edu 37 8 62593567 62593567 + Silent SNP A A C TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:62593567A>C ENST00000541428.1 - 3 355 c.195T>G c.(193-195)ggT>ggG p.G65G ASPH_ENST00000517903.1_Silent_p.G80G|ASPH_ENST00000518068.1_Silent_p.G94G|ASPH_ENST00000517661.1_Silent_p.G80G|ASPH_ENST00000522835.1_Silent_p.G80G|ASPH_ENST00000517847.2_Silent_p.G80G|ASPH_ENST00000389204.4_Silent_p.G80G|ASPH_ENST00000356457.5_Silent_p.G94G|ASPH_ENST00000379449.6_Silent_p.G109G|ASPH_ENST00000517856.1_Silent_p.G94G|ASPH_ENST00000379454.4_Silent_p.G94G|ASPH_ENST00000445642.3_Silent_p.G80G|ASPH_ENST00000522603.1_Silent_p.G65G NM_001164750.1 NP_001158222.1 Q12797 ASPH_HUMAN aspartate beta-hydroxylase 94 muscle contraction integral to endoplasmic reticulum membrane calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 Lung SC(2;0.153) Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101) L-Aspartic Acid(DB00128)|Succinic acid(DB00139) AATCTCCATCACCATCAGCAT 0.294000 32 52 0 0 1 0 0 PCDHA5 56143 broad.mit.edu 37 5 140203523 140203523 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:140203523G>A ENST00000529859.1 + 1 2163 c.2163G>A c.(2161-2163)cgG>cgA p.R721R PCDHA5_ENST00000529619.1_Silent_p.R721R|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000378126.3_Silent_p.R721R|PCDHA4_ENST00000530339.1_Intron NM_018908.2 NP_061731.1 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCGCGCTGCGGTGCTCGGCGC 0.667000 24 68 0 0 1 0 0 ATP6V1B2 526 broad.mit.edu 37 8 20069207 20069207 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:20069207C>T ENST00000276390.2 + 7 688 c.648C>T c.(646-648)tcC>tcT p.S216S NM_001693.3 NP_001684.2 P21281 VATB2_HUMAN ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2 216 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|endomembrane system|Golgi apparatus|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism endometrium(1)|kidney(2)|lung(5)|prostate(1) 9 Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211) TAAAGAAATCCAAAGATGTAG 0.328000 24 24 0 0 1 0 0 KIAA1958 158405 broad.mit.edu 37 9 115337401 115337401 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr9:115337401C>T ENST00000337530.6 + 2 1337 c.1041C>T c.(1039-1041)ccC>ccT p.P347P KIAA1958_ENST00000536272.1_Silent_p.P347P|KIAA1958_ENST00000374244.3_Silent_p.P347P NM_133465.2 NP_597722.1 Q8N8K9 K1958_HUMAN KIAA1958 347 endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3) 25 CCCATCTGCCCAGCCAGGTCT 0.562000 70 32 0 0 1 0 0 PLCH1 23007 broad.mit.edu 37 3 155241715 155241715 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:155241715C>T ENST00000460012.1 - 11 1708 c.1351G>A c.(1351-1353)Gaa>Aaa p.E451K PLCH1_ENST00000447496.2_Missense_Mutation_p.E469K|PLCH1_ENST00000414191.1_Missense_Mutation_p.E451K|PLCH1_ENST00000340059.7_Missense_Mutation_p.E469K|PLCH1_ENST00000334686.6_Missense_Mutation_p.E451K|PLCH1_ENST00000494598.1_Missense_Mutation_p.E469K Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 469 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) CACTCGTCTTCAATTTCATCT 0.408000 56 85 0 0 1 0 0 FBXO43 286151 broad.mit.edu 37 8 101153160 101153160 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:101153160G>A ENST00000428847.2 - 2 1638 c.1322C>T c.(1321-1323)cCa>cTa p.P441L NM_001029860.3 NP_001025031.2 Q4G163 FBX43_HUMAN F-box protein 43 441 meiosis zinc ion binding endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1) 31 all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798) Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957) TTGCAAGGCTGGGGTCTTTGA 0.433000 45 79 0 0 1 0 0 CTNNA3 29119 broad.mit.edu 37 10 68535278 68535278 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr10:68535278C>T ENST00000433211.1 - 8 1226 c.1052G>A c.(1051-1053)gGa>gAa p.G351E CTNNA3_ENST00000494580.1_5'UTR|CTNNA3_ENST00000373744.4_Missense_Mutation_p.G351E NM_013266.2 NP_037398.2 Q9UI47 CTNA3_HUMAN catenin (cadherin-associated protein), alpha 3 351 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 95 TTCTTTTTTTCCAGCCTGCAA 0.358000 35 24 0 0 1 0 0 CPED1 79974 broad.mit.edu 37 7 120770249 120770249 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:120770249G>A ENST00000310396.5 + 12 1945 c.1478G>A c.(1477-1479)gGa>gAa p.G493E CPED1_ENST00000423795.1_Missense_Mutation_p.G273E|CPED1_ENST00000450913.2_Missense_Mutation_p.G493E NM_024913.4 NP_079189.4 cadherin-like and PC-esterase domain containing 1 AATCCTGTGGGAAATCCTGGC 0.393000 23 46 0 0 1 0 0 C22orf42 150297 broad.mit.edu 37 22 32550253 32550253 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr22:32550253C>T ENST00000382097.3 - 2 357 c.285G>A c.(283-285)ggG>ggA p.G95G NM_001010859.1 NP_001010859.1 Q6IC83 CV042_HUMAN chromosome 22 open reading frame 42 95 NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2) 24 GAGGCCAAATCCCGTGCCGTC 0.368000 27 11 0 0 1 0 0 TP63 8626 broad.mit.edu 37 3 189349307 189349307 + Translation_Start_Site SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:189349307G>A ENST00000264731.3 + 1 92 c.3G>A c.(1-3)atG>atA p.M1I TP63_ENST00000320472.5_Start_Codon_SNP_p.M1I|TP63_ENST00000440651.2_Start_Codon_SNP_p.M1I|TP63_ENST00000392460.3_Start_Codon_SNP_p.M1I|TP63_ENST00000418709.2_Start_Codon_SNP_p.M1I|TP63_ENST00000382063.4_Start_Codon_SNP_p.M1I NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 1 Transcription activation. anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) TGAAGGAAATGAATTTTGAAA 0.373000 HNSCC(45;0.13) 24 87 0 0 1 0 0 GZF1 64412 broad.mit.edu 37 20 23345093 23345093 + Missense_Mutation SNP C C T rs140549788 TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr20:23345093C>T ENST00000338121.5 + 2 150 c.73C>T c.(73-75)Cgc>Tgc p.R25C GZF1_ENST00000544236.1_Intron|GZF1_ENST00000542987.1_Intron|GZF1_ENST00000377051.2_Missense_Mutation_p.R25C Q9H116 GZF1_HUMAN GDNF-inducible zinc finger protein 1 25 transcription, DNA-dependent nucleolus|nucleoplasm sequence-specific DNA binding|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2) 24 Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135) GCATGAGCTTCGCCTCCTGGG 0.522000 36 24 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228559048 228559048 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:228559048C>T ENST00000570156.2 + 105 23514 c.23440C>T c.(23440-23442)Cca>Tca p.P7814S OBSCN_ENST00000366707.4_Missense_Mutation_p.P4491S|OBSCN_ENST00000422127.1_Missense_Mutation_p.P6857S NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 6857 Protein kinase 2. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GGGTGCCGGGCCACCGGCCGC 0.756000 3 11 0 0 1 0 0 OR8H2 390151 broad.mit.edu 37 11 55872770 55872770 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:55872770G>A ENST00000313503.1 + 1 252 c.252G>A c.(250-252)gcG>gcA p.A84A NM_001005200.1 NP_001005200.1 Q8N162 OR8H2_HUMAN olfactory receptor, family 8, subfamily H, member 2 84 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 61 Esophageal squamous(21;0.00693) AAACCTTAGCGAACTTACTGA 0.438000 HNSCC(53;0.14) 72 344 0 0 1 0 0 ALX3 257 broad.mit.edu 37 1 110604121 110604121 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:110604121C>T ENST00000369792.4 - 3 746 c.659G>A c.(658-660)gGg>gAg p.G220E RP4-773N10.4_ENST00000554749.1_RNA NM_006492.2 NP_006483.2 O95076 ALX3_HUMAN ALX homeobox 3 220 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 6 all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135) GGGGTTCCGCCCCTCCTGGAT 0.622000 22 99 0 0 1 0 0 SRPK1 6732 broad.mit.edu 37 6 35856643 35856643 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:35856643C>T ENST00000373825.2 - 4 536 c.251G>A c.(250-252)cGa>cAa p.R84Q SRPK1_ENST00000373821.2_5'UTR|SRPK1_ENST00000423325.2_Missense_Mutation_p.R68Q|SRPK1_ENST00000373822.1_5'UTR Q96SB4 SRPK1_HUMAN SRSF protein kinase 1 84 Protein kinase. cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing cytoplasm|nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 GCCTAACTTTCGGATCACATG 0.373000 61 51 0 0 1 0 0 OR2L8 391190 broad.mit.edu 37 1 248112454 248112454 + Nonsense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:248112454C>T ENST00000357191.3 + 1 295 c.295C>T c.(295-297)Cag>Tag p.Q99* OR2L13_ENST00000366478.2_Intron NM_001001963.1 NP_001001963.1 Q8NGY9 OR2L8_HUMAN olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene) 99 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3) 42 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) GTGTGGGATTCAGAGTTTCTT 0.428000 24 286 0 0 1 0 0 COL21A1 81578 broad.mit.edu 37 6 55925714 55925714 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:55925714C>T ENST00000244728.5 - 26 2724 c.2327G>A c.(2326-2328)gGa>gAa p.G776E COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000535941.1_Missense_Mutation_p.G776E|COL21A1_ENST00000370808.2_Missense_Mutation_p.G176E|COL21A1_ENST00000370819.1_Missense_Mutation_p.G773E NM_030820.3 NP_110447.2 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 776 Collagen-like 5. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) ACCTGGGGGTCCCTGAGGACC 0.493000 18 17 0 0 1 0 0 CT45A5 441521 broad.mit.edu 37 X 134947928 134947928 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chrX:134947928C>T ENST00000370724.3 - 3 641 c.397G>A c.(397-399)Gaa>Aaa p.E133K CT45A4_ENST00000420087.2_Intron|CT45A5_ENST00000491480.1_Missense_Mutation_p.E133K NM_001007551.3|NM_001172288.1 NP_001007552.1|NP_001165759.1 Q6NSH3 CT455_HUMAN cancer/testis antigen family 45, member A5 133 p.E133*(1) endometrium(1)|large_intestine(2)|lung(6) 9 CATCGGATTTCCTTCACTACT 0.388000 43 15 0 0 1 0 0 ZNF93 81931 broad.mit.edu 37 19 20044767 20044767 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:20044767C>T ENST00000343769.5 + 4 1031 c.1003C>T c.(1003-1005)Cat>Tat p.H335Y AC007204.2_ENST00000592245.1_lincRNA NM_031218.3 NP_112495.2 P35789 ZNF93_HUMAN zinc finger protein 93 335 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 24 TAAGAGAATTCATACTGGAGA 0.373000 14 28 0 0 1 0 0 ZSCAN23 222696 broad.mit.edu 37 6 28403841 28403841 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:28403841C>T ENST00000289788.4 - 2 348 c.203G>A c.(202-204)aGa>aAa p.R68K ZSCAN23_ENST00000486481.1_Intron NM_001012455.1 NP_001012458.1 Q3MJ62 ZSC23_HUMAN zinc finger and SCAN domain containing 23 68 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|prostate(1)|stomach(2) 4 CTCCTGGAGTCTTTGAAGAGC 0.557000 21 49 0 0 1 0 0 AMPH 273 broad.mit.edu 37 7 38457541 38457541 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:38457541C>T ENST00000356264.2 - 17 1497 c.1282G>A c.(1282-1284)Gaa>Aaa p.E428K AMPH_ENST00000428293.2_Intron|AMPH_ENST00000471913.1_Intron|AMPH_ENST00000325590.5_Intron NM_001635.3 NP_001626.1 P49418 AMPH_HUMAN amphiphysin 428 endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2) 62 GGAGCCTGTTCAGATTCAGCC 0.473000 25 105 0 0 1 0 0 PCK1 5105 broad.mit.edu 37 20 56137260 56137260 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr20:56137260G>A ENST00000319441.4 + 3 522 c.358G>A c.(358-360)Gag>Aag p.E120K PCK1_ENST00000543666.1_Intron|PCK1_ENST00000535860.1_Intron NM_002591.3 NP_002582.3 P35558 PCKGC_HUMAN phosphoenolpyruvate carboxykinase 1 (soluble) 120 gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus cytosol|nucleus carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 34 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) GATGTCAGAGGAGGATTTTGA 0.502000 13 47 0 0 1 0 0 IGHV4OR15-8 28317 broad.mit.edu 37 15 22473063 22473063 + RNA SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr15:22473063C>T ENST00000557788.2 - 0 207 TGATAGATTTCCCCAATCCAC 0.567000 24 248 0 0 1 0 0 CTNNA3 29119 broad.mit.edu 37 10 68526081 68526081 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr10:68526081C>T ENST00000433211.1 - 9 1396 c.1222G>A c.(1222-1224)Gaa>Aaa p.E408K CTNNA3_ENST00000494580.1_5'UTR|CTNNA3_ENST00000373744.4_Missense_Mutation_p.E408K NM_013266.2 NP_037398.2 Q9UI47 CTNA3_HUMAN catenin (cadherin-associated protein), alpha 3 408 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 95 ATTTCCTTTTCCCGGCCATTC 0.433000 30 35 0 0 1 0 0 LILRA1 11024 broad.mit.edu 37 19 55106746 55106746 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:55106746C>T ENST00000453777.1 + 5 710 c.540C>T c.(538-540)gcC>gcT p.A180A LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000251372.3_Silent_p.A180A NM_001278318.1 NP_001265247.1 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 180 Ig-like C2-type 2. cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) GGTCCCGGGCCATCTTCTCTG 0.567000 72 85 0 0 1 0 0 ILDR1 286676 broad.mit.edu 37 3 121725893 121725893 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:121725893C>T ENST00000273691.3 - 2 279 c.174G>A c.(172-174)gtG>gtA p.V58V ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000462014.1_Silent_p.V70V|ILDR1_ENST00000393631.1_Silent_p.V58V|ILDR1_ENST00000344209.5_Silent_p.V58V NM_175924.3 NP_787120.1 Q86SU0 ILDR1_HUMAN immunoglobulin-like domain containing receptor 1 58 Ig-like V-type. cytosol|integral to membrane|plasma membrane receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GBM - Glioblastoma multiforme(114;0.156) AGCGCCATGTCACCACCACGT 0.542000 29 29 0 0 1 0 0 KRT34 3885 broad.mit.edu 37 17 39535397 39535397 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr17:39535397C>T ENST00000394001.1 - 6 1064 c.1034G>A c.(1033-1035)aGc>aAc p.S345N NM_021013.3 NP_066293.2 O76011 KRT34_HUMAN keratin 34 345 Coil 2.|Rod. epidermis development intermediate filament protein binding|structural molecule activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Breast(137;0.000496) GTGGGCCTCGCTCTCCGTCAG 0.572000 23 55 0 0 1 0 0 SCN8A 6334 broad.mit.edu 37 12 52163680 52163680 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:52163680G>A ENST00000354534.5 + 18 3579 c.3401G>A c.(3400-3402)gGa>gAa p.G1134E SCN8A_ENST00000545061.1_Missense_Mutation_p.G1134E NM_001177984.2|NM_014191.3 NP_001171455.1|NP_055006.1 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha subunit 1134 axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) TCCTCTGAAGGAAGCACCATT 0.507000 10 6 0 0 1 0 0 SEMG2 6407 broad.mit.edu 37 20 43851562 43851562 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr20:43851562C>T ENST00000372769.3 + 2 1379 c.1289C>T c.(1288-1290)tCc>tTc p.S430F NM_003008.2 NP_002999.1 Q02383 SEMG2_HUMAN semenogelin II 430 4 X 60 AA tandem repeats, type I.|Repeat-rich region. sexual reproduction extracellular space|stored secretory granule structural molecule activity autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 Myeloproliferative disorder(115;0.0122) AAAGGTGTATCCAAAGGCAGT 0.383000 34 67 0 0 1 0 0 CAD 790 broad.mit.edu 37 2 27446839 27446839 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:27446839C>T ENST00000264705.4 + 8 1212 c.1050C>T c.(1048-1050)ttC>ttT p.F350F CAD_ENST00000403525.1_Silent_p.F350F NM_004341.3 NP_004332.2 P27708 PYR1_HUMAN carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase 350 GATase (Glutamine amidotransferase).|Glutamine amidotransferase type-1. 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 92 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) AACTGCTTTTCGATATCTTTC 0.498000 88 86 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41459205 41459205 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr21:41459205C>T ENST00000400454.1 - 22 4337 c.3860G>A c.(3859-3861)cGa>cAa p.R1287Q NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1287 Ig-like C2-type 10. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) GGTCAGGATTCGTGCAGGAGC 0.483000 45 55 0 0 1 0 0 ENPEP 2028 broad.mit.edu 37 4 111482604 111482604 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr4:111482604G>A ENST00000265162.5 + 20 3106 c.2764G>A c.(2764-2766)Gaa>Aaa p.E922K ENPEP_ENST00000504100.1_3'UTR NM_001977.3 NP_001968.3 Q07075 AMPE_HUMAN glutamyl aminopeptidase (aminopeptidase A) 922 cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) TGGAGCAGGAGAAAAACCTAG 0.358000 23 13 0 0 1 0 0 DSCAML1 57453 broad.mit.edu 37 11 117302341 117302341 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:117302341G>A ENST00000321322.6 - 31 5464 c.5463C>T c.(5461-5463)acC>acT p.T1821T DSCAML1_ENST00000527706.1_Silent_p.T1551T NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1761 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) CGGAGGTGAGGGTGCGGGCAG 0.627000 21 106 0 0 1 0 0 ZCCHC5 203430 broad.mit.edu 37 X 77913440 77913440 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chrX:77913440C>T ENST00000321110.1 - 2 773 c.478G>A c.(478-480)Gat>Aat p.D160N NM_152694.2 NP_689907.1 Q8N8U3 ZCHC5_HUMAN zinc finger, CCHC domain containing 5 160 Pro-rich. nucleic acid binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1) 37 TTTGGGGGATCCTGGGGTTCT 0.562000 25 8 0 0 1 0 0 ST8SIA4 7903 broad.mit.edu 37 5 100222075 100222075 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:100222075C>T ENST00000231461.5 - 3 785 c.475G>A c.(475-477)Gag>Aag p.E159K ST8SIA4_ENST00000451528.2_Missense_Mutation_p.E159K|ST8SIA4_ENST00000507360.2_5'UTR NM_005668.4 NP_005659.1 Q92187 SIA8D_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 159 axon guidance|N-glycan processing integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1) 25 all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203) COAD - Colon adenocarcinoma(37;0.00402) CTGTCAATCTCCTTTCCACAT 0.383000 24 37 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179629430 179629430 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:179629430G>A ENST00000589042.1 - 42 10036 c.9812C>T c.(9811-9813)tCc>tTc p.S3271F TTN_ENST00000342992.6_Missense_Mutation_p.S3271F|TTN_ENST00000591111.1_Missense_Mutation_p.S3271F|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.S3271F|TTN_ENST00000460472.2_Missense_Mutation_p.S3225F|TTN_ENST00000342175.6_Missense_Mutation_p.S3225F|TTN_ENST00000359218.5_Missense_Mutation_p.S3225F NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 3000 Ig-like 19. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTTGTACCAGGAAATTTTGGG 0.527000 44 80 0 0 1 0 0 PEBP4 157310 broad.mit.edu 37 8 22777793 22777793 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:22777793C>T ENST00000256404.6 - 3 253 c.162G>A c.(160-162)ggG>ggA p.G54G PEBP4_ENST00000521284.1_5'UTR NM_144962.2 NP_659399.2 Q96S96 PEBP4_HUMAN phosphatidylethanolamine-binding protein 4 54 lysosome breast(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|stomach(2) 10 Prostate(55;0.0453)|Breast(100;0.103) Colorectal(74;0.0434)|COAD - Colon adenocarcinoma(73;0.124) AGCCAATGTTCCCCAACTCTG 0.537000 33 38 0 0 1 0 0 AFP 174 broad.mit.edu 37 4 74313347 74313347 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr4:74313347G>A ENST00000395792.2 + 8 1112 c.1012G>A c.(1012-1014)Gat>Aat p.D338N AFP_ENST00000226359.2_Missense_Mutation_p.D338N NM_001134.1 NP_001125.1 P02771 FETA_HUMAN alpha-fetoprotein 338 Albumin 2. transport metal ion binding breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1) 22 Breast(15;0.00102) Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) AGGAGATAGAGATTTTAACCA 0.358000 Alpha-Fetoprotein, Hereditary Persistence of 7 32 0 0 1 0 0 PCDHB5 26167 broad.mit.edu 37 5 140515899 140515899 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:140515899G>A ENST00000231134.5 + 1 1100 c.883G>A c.(883-885)Gag>Aag p.E295K NM_015669.2 NP_056484.1 Q9Y5E4 PCDB5_HUMAN 295 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding p.E295K(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 81 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGTAATAGACGAGAAAACAGC 0.458000 36 78 0 0 1 0 0 OR14K1 343170 broad.mit.edu 37 1 247902602 247902602 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:247902602G>A ENST00000283225.2 + 1 686 c.686G>A c.(685-687)aGa>aAa p.R229K RP11-634B7.4_ENST00000449298.1_RNA olfactory receptor, family 14, subfamily K, member 1 NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1) 27 ATATCACAGAGACAGAGACAA 0.418000 9 49 0 0 1 0 0 CNIH3 149111 broad.mit.edu 37 1 224868717 224868717 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:224868717C>T ENST00000272133.3 + 2 1021 c.139C>T c.(139-141)Cct>Tct p.P47S NM_152495.1 NP_689708.1 Q8TBE1 CNIH3_HUMAN cornichon family AMPA receptor auxiliary protein 3 47 intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|postsynaptic membrane large_intestine(5)|lung(4) 9 Breast(184;0.218) GBM - Glioblastoma multiforme(131;0.073) CCAGTGCAATCCTGTTCATGC 0.483000 15 76 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37430961 37430961 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr10:37430961G>A ENST00000374660.1 + 7 1067 c.968G>A c.(967-969)aGa>aAa p.R323K ANKRD30A_ENST00000602533.1_Missense_Mutation_p.R323K|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.R323K Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 379 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 GCAAAAGGAAGACCTAGGAAG 0.428000 44 35 0 0 1 0 0 CAND2 23066 broad.mit.edu 37 3 12858301 12858301 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:12858301G>A ENST00000456430.2 + 10 1911 c.1870G>A c.(1870-1872)Gag>Aag p.E624K CAND2_ENST00000295989.5_Missense_Mutation_p.E531K NM_001162499.1 NP_001155971.1 O75155 CAND2_HUMAN cullin-associated and neddylation-dissociated 2 (putative) 624 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 CCTGCGGAATGAGATCACCCG 0.632000 58 123 0 0 1 0 0 OR5B12 390191 broad.mit.edu 37 11 58207445 58207445 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:58207445G>A ENST00000302572.2 - 1 201 c.180C>T c.(178-180)ttC>ttT p.F60F NM_001004733.2 NP_001004733.1 Q96R08 OR5BC_HUMAN olfactory receptor, family 5, subfamily B, member 12 60 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1) 40 Esophageal squamous(5;0.0027) Breast(21;0.0778) GGTTACTGAGGAAGAAGTACA 0.458000 18 39 0 0 1 0 0 ABCC5 10057 broad.mit.edu 37 3 183695342 183695342 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:183695342G>A ENST00000334444.6 - 10 1607 c.1367C>T c.(1366-1368)tCc>tTc p.S456F ABCC5_ENST00000265586.6_Missense_Mutation_p.S456F|ABCC5_ENST00000492216.1_5'UTR NM_005688.2 NP_005679.2 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 5 456 ABC transmembrane type-1 1. integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) TTCTGAGAGGGACTTTACTGA 0.488000 22 38 0 0 1 0 0 FBXL20 84961 broad.mit.edu 37 17 37420601 37420601 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr17:37420601G>A ENST00000264658.6 - 14 1290 c.1030C>T c.(1030-1032)Cgt>Tgt p.R344C FBXL20_ENST00000583610.1_Missense_Mutation_p.R344C|FBXL20_ENST00000577399.1_Missense_Mutation_p.R346C|FBXL20_ENST00000394294.3_Missense_Mutation_p.R312C NM_032875.2 NP_116264.2 Q96IG2 FXL20_HUMAN F-box and leucine-rich repeat protein 20 344 cytoplasm breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 22 LUAD - Lung adenocarcinoma(14;0.146) CCCAGGTGACGAATTCCATCA 0.517000 21 36 0 0 1 0 0 CAPSL 133690 broad.mit.edu 37 5 35921187 35921187 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:35921187C>T ENST00000397367.2 - 2 162 c.36G>A c.(34-36)gcG>gcA p.A12A CAPSL_ENST00000514524.1_Silent_p.A12A|CAPSL_ENST00000397366.1_Silent_p.A12A NM_144647.3 NP_653248.3 Q8WWF8 CAPSL_HUMAN calcyphosine-like 12 cytoplasm calcium ion binding central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1) 19 all_lung(31;0.000268) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202) TGGCCTGGATCGCCATCTCTC 0.612000 13 74 0 0 1 0 0 IGHG1 3500 broad.mit.edu 37 14 106208531 106208531 + RNA SNP G G T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr14:106208531G>T ENST00000390548.2 - 0 368 GGAAGAGGAAGACTGACGGTC 0.622000 68 19 1.08241e-25 1.09778e-25 1 1 0 DSP 1832 broad.mit.edu 37 6 7558354 7558354 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:7558354G>A ENST00000379802.3 + 3 620 c.279G>A c.(277-279)ttG>ttA p.L93L DSP_ENST00000418664.2_Silent_p.L93L NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 93 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) TTCAGGAATTGAAGTATGGAG 0.428000 20 58 0 0 1 0 0 MAGEA6 4105 broad.mit.edu 37 X 151869890 151869890 + Nonsense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chrX:151869890C>T ENST00000329342.5 + 3 805 c.580C>T c.(580-582)Cag>Tag p.Q194* NM_005363.2 NP_005354.1 P43360 MAGA6_HUMAN melanoma antigen family A, 6 194 MAGE. protein binding breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) GGGTGACAATCAGATCATGCC 0.557000 73 11 0 0 1 0 0 OR2G3 81469 broad.mit.edu 37 1 247768908 247768908 + Missense_Mutation SNP T T G TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:247768908T>G ENST00000320002.2 + 1 53 c.21T>G c.(19-21)agT>agG p.S7R RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA NM_001001914.1 NP_001001914.1 Q8NGZ4 OR2G3_HUMAN olfactory receptor, family 2, subfamily G, member 3 7 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5) 50 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) GCAATGAGAGTTCCCTAATGG 0.463000 58 11 0 0 1 0 0 EYA2 2139 broad.mit.edu 37 20 45808505 45808505 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr20:45808505C>T ENST00000327619.5 + 13 1632 c.1258C>T c.(1258-1260)Ctc>Ttc p.L420F EYA2_ENST00000317304.6_Missense_Mutation_p.L390F|EYA2_ENST00000357410.3_Intron NM_005244.4 NP_005235.3 O00167 EYA2_HUMAN eyes absent homolog 2 (Drosophila) 420 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) GCTGGAAGCTCTCACAGACCT 0.517000 12 34 0 0 1 0 0 SMARCC2 6601 broad.mit.edu 37 12 56561889 56561889 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:56561889C>T ENST00000394023.3 - 26 2910 c.2805G>A c.(2803-2805)cgG>cgA p.R935R SMARCC2_ENST00000550164.1_Silent_p.R935R|SMARCC2_ENST00000267064.4_Silent_p.R904R|SMARCC2_ENST00000347471.4_Silent_p.R935R|RP11-977G19.5_ENST00000553176.1_RNA NM_001130420.1 NP_001123892.1 Q8TAQ2 SMRC2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 904 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) CCTCAAAGTGCCGAAGTTTGA 0.527000 17 73 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181725162 181725162 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:181725162C>T ENST00000526775.1 + 28 4168 c.4003C>T c.(4003-4005)Cac>Tac p.H1335Y CACNA1E_ENST00000357570.5_Missense_Mutation_p.H1305Y|CACNA1E_ENST00000367573.2_Missense_Mutation_p.H1354Y|CACNA1E_ENST00000360108.3_Missense_Mutation_p.H1335Y|CACNA1E_ENST00000367567.4_Missense_Mutation_p.H961Y|CACNA1E_ENST00000358338.5_Missense_Mutation_p.H1286Y|CACNA1E_ENST00000367570.1_Missense_Mutation_p.H1354Y NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1354 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 CCATGAATTCCACTACGACAA 0.502000 9 30 0 0 1 0 0 ATP7A 538 broad.mit.edu 37 X 77244168 77244168 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chrX:77244168C>T ENST00000341514.6 + 3 706 c.551C>T c.(550-552)tCa>tTa p.S184L ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Missense_Mutation_p.S184L NM_000052.5 NP_000043.3 Q04656 ATP7A_HUMAN ATPase, Cu++ transporting, alpha polypeptide 184 HMA 2. ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1) 53 ACCTGCCATTCATGTACTAGC 0.433000 98 19 0 0 1 0 0 LRRC37A3 374819 broad.mit.edu 37 17 62865265 62865265 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr17:62865265G>A ENST00000584306.1 - 8 3456 c.2926C>T c.(2926-2928)Ctg>Ttg p.L976L LRRC37A3_ENST00000339474.5_Silent_p.L94L|LRRC37A3_ENST00000319651.5_Silent_p.L976L|LRRC37A3_ENST00000400877.3_Silent_p.L14L NM_199340.2 NP_955372.2 O60309 L37A3_HUMAN leucine rich repeat containing 37, member A3 976 integral to membrane NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 ACAGTTGTCAGAGGATTGTGA 0.299000 40 61 0 0 1 0 0 TIMELESS 8914 broad.mit.edu 37 12 56817587 56817587 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:56817587G>A ENST00000229201.4 - 16 2111 c.1957C>T c.(1957-1959)Ctt>Ttt p.L653F TIMELESS_ENST00000553532.1_Missense_Mutation_p.L654F|TIMELESS_ENST00000554616.1_Intron NM_003920.3 NP_003911.2 Q9UNS1 TIM_HUMAN timeless circadian clock 654 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 TCACGGGGAAGTGGAGCAGAG 0.507000 30 52 0 0 1 0 0 LIN7A 8825 broad.mit.edu 37 12 81283110 81283110 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:81283110C>T ENST00000552864.1 - 2 323 c.121G>A c.(121-123)Gaa>Aaa p.E41K NM_004664.2 NP_004655.1 O14910 LIN7A_HUMAN lin-7 homolog A (C. elegans) 41 L27. exocytosis|protein complex assembly|protein transport basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction L27 domain binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2) 15 TCTCCAGATTCCTGTAGTTTT 0.348000 3 19 0 0 1 0 0 SCG3 29106 broad.mit.edu 37 15 51981545 51981545 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr15:51981545G>A ENST00000220478.3 + 6 1073 c.670G>A c.(670-672)Gga>Aga p.G224R SCG3_ENST00000542355.2_5'UTR NM_013243.3 NP_037375.2 Q8WXD2 SCG3_HUMAN secretogranin III 224 platelet activation|platelet degranulation extracellular region|stored secretory granule breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all cancers(107;0.00488) GAATCAGGCTGGAAAAATACC 0.403000 15 12 0 0 1 0 0 JADE1 79960 broad.mit.edu 37 4 129783124 129783124 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr4:129783124G>A ENST00000226319.6 + 9 1527 c.1247G>A c.(1246-1248)cGt>cAt p.R416H PHF17_ENST00000413543.2_Missense_Mutation_p.R416H|PHF17_ENST00000512960.1_Missense_Mutation_p.R416H|PHF17_ENST00000452328.2_Missense_Mutation_p.R404H|PHF17_ENST00000511647.1_Missense_Mutation_p.R416H NM_199320.2 NP_955352.1 Q6IE81 JADE1_HUMAN 416 apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent histone acetyltransferase complex|mitochondrion protein binding|zinc ion binding NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 GTGAGTGTCCGTAAGCAGAAG 0.607000 4 129 0 0 1 0 0 PRR22 163154 broad.mit.edu 37 19 5783899 5783899 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:5783899G>A ENST00000419421.2 - 3 463 c.359C>T c.(358-360)cCc>cTc p.P120L NM_001134316.1 NP_001127788.1 Q8IZ63 PRR22_HUMAN proline rich 22 118 Pro-rich. endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1) 5 CTTGAGGTAGGGCTGAGGCTC 0.716000 3 6 0 0 1 0 0 APP 351 broad.mit.edu 37 21 27284167 27284167 + Missense_Mutation SNP C C T rs140304729 TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr21:27284167C>T ENST00000358918.3 - 14 1994 c.1795G>A c.(1795-1797)Gaa>Aaa p.E599K APP_ENST00000448388.2_Missense_Mutation_p.E489K|APP_ENST00000439274.2_Missense_Mutation_p.E543K|APP_ENST00000440126.3_Missense_Mutation_p.E575K|APP_ENST00000348990.5_Missense_Mutation_p.E524K|APP_ENST00000346798.3_Missense_Mutation_p.E599K|APP_ENST00000359726.3_Missense_Mutation_p.E543K|APP_ENST00000354192.3_Missense_Mutation_p.E468K|APP_ENST00000357903.3_Missense_Mutation_p.E580K NM_001204301.1|NM_001204302.1 NP_001191230.1|NP_001191231.1 P05067 A4_HUMAN amyloid beta (A4) precursor protein 599 adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 22 Breast(209;0.00295) GTTTTCGTTTCGGTCAAAGAT 0.502000 11 35 0 0 1 0 0 TMEM156 80008 broad.mit.edu 37 4 39000389 39000389 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr4:39000389G>A ENST00000381938.3 - 2 336 c.229C>T c.(229-231)Ccc>Tcc p.P77S TMEM156_ENST00000372489.2_5'UTR NM_024943.1 NP_079219.1 Q8N614 TM156_HUMAN transmembrane protein 156 77 integral to membrane endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1) 10 AAATTGGAGGGATTTAGAAAG 0.368000 20 9 0 0 1 0 0 FRMPD3 84443 broad.mit.edu 37 X 106845425 106845425 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chrX:106845425C>T ENST00000276185.4 + 16 4255 c.4255C>T c.(4255-4257)Ccc>Tcc p.P1419S Q5JV73 FRPD3_HUMAN FERM and PDZ domain containing 3 1419 cytoskeleton breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1) 28 TCTGGGAGCTCCCAATTACAG 0.617000 45 11 0 0 1 0 0 DSG1 1828 broad.mit.edu 37 18 28926124 28926124 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr18:28926124G>A ENST00000257192.4 + 14 2275 c.2063G>A c.(2062-2064)gGt>gAt p.G688D RP11-534N16.1_ENST00000581856.1_RNA|DSG1_ENST00000462981.2_Missense_Mutation_p.G47D|RP11-534N16.1_ENST00000578119.1_RNA NM_001942.2 NP_001933.2 Q02413 DSG1_HUMAN desmoglein 1 688 calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 76 OV - Ovarian serous cystadenocarcinoma(10;0.00559) AGAGAAGGAGGTCTGAATATG 0.428000 21 70 0 0 1 0 0 COX10-AS1 100874058 broad.mit.edu 37 17 13972805 13972805 + RNA SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr17:13972805G>A ENST00000602743.1 - 0 7 CCGCCCGCCGGAAGTGGCGGC 0.687000 4 6 0 0 1 0 0 LTN1 26046 broad.mit.edu 37 21 30318484 30318484 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr21:30318484G>A ENST00000361371.4 - 20 3763 c.3613C>T c.(3613-3615)Ctt>Ttt p.L1205F LTN1_ENST00000389194.2_Missense_Mutation_p.L1251F NM_015565.2 NP_056380.2 O94822 LTN1_HUMAN listerin E3 ubiquitin protein ligase 1 1205 ligase activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2) 60 CAACTGAAAAGAAAAATATCT 0.303000 18 46 0 0 1 0 0 FBN1 2200 broad.mit.edu 37 15 48766501 48766501 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr15:48766501G>A ENST00000316623.5 - 34 4616 c.4161C>T c.(4159-4161)taC>taT p.Y1387Y NM_000138.4 NP_000129.3 P35555 FBN1_HUMAN fibrillin 1 1387 EGF-like 23; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) ACAGACAGCGGTAAGATCCCA 0.448000 6 16 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9068671 9068671 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:9068671G>A ENST00000397910.4 - 3 18978 c.18775C>T c.(18775-18777)Ctg>Ttg p.L6259L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 6261 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ATCTTCGCCAGTGTAGGGGTG 0.483000 30 56 0 0 1 0 0 AIM2 9447 broad.mit.edu 37 1 159043086 159043086 + Silent SNP A A T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:159043086A>T ENST00000368130.4 - 2 492 c.204T>A c.(202-204)atT>atA p.I68I NM_004833.1 NP_004824.1 O14862 AIM2_HUMAN absent in melanoma 2 68 DAPIN. cellular response to drug|immune response|interleukin-1 beta secretion mitochondrion|nucleus breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1) 16 all_hematologic(112;0.0429) ACTTCTGAAAAATACGAATGG 0.448000 37 22 0 0 1 0 0 LOC728715 728715 broad.mit.edu 37 12 9717743 9717743 + RNA SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:9717743C>T ENST00000520314.1 + 0 4172 AATTTCCATCCTTTATTCCCT 0.418000 8 2 0 0 1 0 0 TRIM71 131405 broad.mit.edu 37 3 32933207 32933207 + Silent SNP C C G TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:32933207C>G ENST00000383763.4 + 4 2574 c.2511C>G c.(2509-2511)ggC>ggG p.G837G NM_001039111.1 NP_001034200.1 Q2Q1W2 LIN41_HUMAN tripartite motif containing 71, E3 ubiquitin protein ligase 837 multicellular organismal development cytoplasm zinc ion binding breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 AAGGCAGCGGCTTTGGGCAGA 0.552000 70 99 0 0 1 0 0 NOS1 4842 broad.mit.edu 37 12 117723978 117723978 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:117723978G>A ENST00000317775.6 - 6 1906 c.1221C>T c.(1219-1221)atC>atT p.I407I NOS1_ENST00000338101.4_Silent_p.I407I|NOS1_ENST00000344089.3_3'UTR NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 407 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) TGGCCCCATAGATGAGCTCTG 0.552000 25 21 0 0 1 0 0 RCN3 57333 broad.mit.edu 37 19 50031886 50031886 + Nonsense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:50031886C>T ENST00000270645.3 + 2 604 c.157C>T c.(157-159)Cag>Tag p.Q53* RCN3_ENST00000593644.1_3'UTR NM_020650.2 NP_065701.2 Q96D15 RCN3_HUMAN reticulocalbin 3, EF-hand calcium binding domain 53 endoplasmic reticulum lumen calcium ion binding|protein binding endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 12 all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159) CGGGAACTTCCAGTACGACCA 0.642000 47 55 0 0 1 0 0 ZNF99 7652 broad.mit.edu 37 19 22951111 22951111 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:22951111G>A ENST00000397104.3 - 3 284 c.285C>T c.(283-285)ccC>ccT p.P95P ZNF99_ENST00000596209.1_Silent_p.P74P zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) ACATACCTGGGGGTTTAGTTA 0.433000 7 16 0 0 1 0 0 ANKHD1 54882 broad.mit.edu 37 5 139838840 139838840 + Silent SNP T T C TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:139838840T>C ENST00000297183.6 + 9 1696 c.1572T>C c.(1570-1572)ctT>ctC p.L524L ANKHD1_ENST00000394722.3_Silent_p.L513L|ANKHD1_ENST00000360839.2_Silent_p.L524L|ANKHD1_ENST00000394723.3_Silent_p.L524L|ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.L524L NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGACTTTCTTATTAAGGCAG 0.448000 18 36 0 0 1 0 0 ZNF609 23060 broad.mit.edu 37 15 64791923 64791923 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr15:64791923C>T ENST00000326648.3 + 1 433 c.305C>T c.(304-306)cCc>cTc p.P102L ZNF609_ENST00000416172.1_Missense_Mutation_p.P102L NM_015042.1 NP_055857.1 O15014 ZN609_HUMAN zinc finger protein 609 102 nucleus zinc ion binding breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 ACTAGCAAACCCACTCCAGGG 0.537000 17 41 0 0 1 0 0 OR6B2 389090 broad.mit.edu 37 2 240969247 240969247 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:240969247G>A ENST00000402971.2 - 1 659 c.600C>T c.(598-600)ttC>ttT p.F200F NM_001005853.1 NP_001005853.1 Q6IFH4 OR6B2_HUMAN olfactory receptor, family 6, subfamily B, member 2 200 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(4)|lung(9)|prostate(1) 15 all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238) Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148) AGGCCAGGATGAAATCCACCA 0.572000 27 23 0 0 1 0 0 SLC10A3 8273 broad.mit.edu 37 X 153716274 153716274 + Missense_Mutation SNP C C A rs144362624 TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chrX:153716274C>A ENST00000263512.4 - 2 1504 c.1006G>T c.(1006-1008)Gtg>Ttg p.V336L SLC10A3_ENST00000369649.4_Missense_Mutation_p.V307L|SLC10A3_ENST00000393587.4_Missense_Mutation_p.V336L|SLC10A3_ENST00000393586.1_Missense_Mutation_p.V391L NM_019848.3 NP_062822.1 P09131 P3_HUMAN solute carrier family 10, member 3 336 organic anion transport integral to membrane bile acid:sodium symporter activity endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 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) AGCACGCCCACGGCTATGGGG 0.607000 34 13 4.74835e-14 4.80088e-14 1 1 0 OR8S1 341568 broad.mit.edu 37 12 48920255 48920255 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:48920255C>T ENST00000310194.1 + 1 841 c.841C>T c.(841-843)Ccc>Tcc p.P281S OR8S1_ENST00000551654.1_Intron NM_001005203.2 NP_001005203.2 Q8NH09 OR8S1_HUMAN olfactory receptor, family 8, subfamily S, member 1 281 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4) 22 TGTAGTCACTCCCATGCTGAA 0.423000 8 40 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179666924 179666924 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:179666924G>A ENST00000589042.1 - 3 460 c.236C>T c.(235-237)tCc>tTc p.S79F TTN_ENST00000342992.6_Missense_Mutation_p.S79F|TTN_ENST00000591111.1_Missense_Mutation_p.S79F|TTN_ENST00000360870.5_Missense_Mutation_p.S79F|TTN_ENST00000460472.2_Missense_Mutation_p.S79F|TTN_ENST00000342175.6_Missense_Mutation_p.S79F|TTN_ENST00000359218.5_Missense_Mutation_p.S79F NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 79 Ig-like 1. 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) GGCTTTCAGGGAATATCGTCC 0.562000 45 84 0 0 1 0 0 HTR3C 170572 broad.mit.edu 37 3 183777667 183777667 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:183777667C>T ENST00000318351.1 + 8 1011 c.977C>T c.(976-978)aCc>aTc p.T326I NM_130770.2 NP_570126.2 Q8WXA8 5HT3C_HUMAN 5-hydroxytryptamine (serotonin) receptor 3C, ionotropic 326 integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2) 32 all_cancers(143;2.33e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) CTGCTGGAGACCGTCTTCATT 0.567000 35 60 0 0 1 0 0 ESAM 90952 broad.mit.edu 37 11 124626244 124626244 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:124626244G>A ENST00000278927.5 - 4 595 c.466C>T c.(466-468)Cca>Tca p.P156S ESAM_ENST00000442070.2_Intron NM_138961.2 NP_620411.2 Q96AP7 ESAM_HUMAN endothelial cell adhesion molecule 156 Ig-like C2-type. blood coagulation|leukocyte migration adherens junction|integral to membrane|tight junction endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022) CGGCAGGATGGAGGAGCTGGA 0.597000 6 10 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 70986510 70986510 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr16:70986510G>A ENST00000393567.2 - 41 6495 c.6345C>T c.(6343-6345)gtC>gtT p.V2115V NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 2115 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) CTTGCCCTATGACGTTTTGAC 0.488000 7 18 0 0 1 0 0 SLC25A18 83733 broad.mit.edu 37 22 18065388 18065388 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr22:18065388G>A ENST00000327451.5 + 6 797 c.259G>A c.(259-261)Gac>Aac p.D87N AC004019.13_ENST00000443935.1_RNA|SLC25A18_ENST00000497401.1_3'UTR|SLC25A18_ENST00000399813.1_Missense_Mutation_p.D87N NM_031481.1 NP_113669.1 Q9H1K4 GHC2_HUMAN solute carrier family 25 (glutamate carrier), member 18 87 integral to membrane|mitochondrial inner membrane binding|symporter activity breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6) 18 Lung(27;0.124) L-Glutamic Acid(DB00142) GGCGGCCAACGACTTTTTCCG 0.562000 8 4 0 0 1 0 0 FAM86C2P 645332 broad.mit.edu 37 11 67560710 67560710 + RNA SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:67560710G>A ENST00000528089.1 - 0 1040 CTCTTCGTAGGGAAACAGTTT 0.512000 48 102 0 0 1 0 0 AK7 122481 broad.mit.edu 37 14 96924450 96924450 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr14:96924450G>A ENST00000267584.4 + 12 1302 c.1258G>A c.(1258-1260)Gaa>Aaa p.E420K NM_152327.3 NP_689540.2 Q96M32 KAD7_HUMAN adenylate kinase 7 420 Adenylate kinase.|Poly-Glu. cell projection organization cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 31 all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155) Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228) CGATGTaggggaaggagaaga 0.502000 20 7 0 0 1 0 0 NUAK1 9891 broad.mit.edu 37 12 106460688 106460688 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:106460688C>T ENST00000261402.2 - 7 3257 c.1878G>A c.(1876-1878)aaG>aaA p.K626K NM_014840.2 NP_055655.1 O60285 NUAK1_HUMAN NUAK family, SNF1-like kinase, 1 626 ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 37 TCCGGTACCGCTTCAGGTACT 0.612000 32 29 0 0 1 0 0 JAK3 3718 broad.mit.edu 37 19 17950420 17950420 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:17950420C>T ENST00000458235.1 - 10 1406 c.1307G>A c.(1306-1308)gGa>gAa p.G436E JAK3_ENST00000526008.1_5'UTR|JAK3_ENST00000527670.1_Missense_Mutation_p.G436E|JAK3_ENST00000534444.1_Missense_Mutation_p.G436E NM_000215.3 NP_000206.2 P52333 JAK3_HUMAN Janus kinase 3 436 SH2; atypical. B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis cytoskeleton|cytosol|endomembrane system|membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5) 147 AAGGAAGGTTCCTGTGGGGCT 0.617000 2 Mis """acute megakaryocytic leukemia, ETP ALL""" 5 9 0 0 1 0 0 FHDC1 85462 broad.mit.edu 37 4 153897222 153897222 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr4:153897222C>T ENST00000511601.1 + 12 2967 c.2779C>T c.(2779-2781)Ccc>Tcc p.P927S FHDC1_ENST00000260008.3_Missense_Mutation_p.P927S Q9C0D6 FHDC1_HUMAN FH2 domain containing 1 927 actin cytoskeleton organization actin binding ARFIP1/FHDC1(2) NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 43 all_hematologic(180;0.093) ATCCCGGGGGCCCTCCCAGAA 0.672000 9 60 0 0 1 0 0 FAM45A 404636 broad.mit.edu 37 10 120877127 120877127 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr10:120877127C>T ENST00000361432.2 + 4 455 c.429C>T c.(427-429)ttC>ttT p.F143F FAM45A_ENST00000535029.1_Silent_p.F143F|FAM45A_ENST00000489988.1_3'UTR|FAM45A_ENST00000544016.1_Intron NM_207009.2 NP_996892.1 Q8TCE6 FA45A_HUMAN family with sequence similarity 45, member A 143 breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1) 14 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0293) ACGGCTCTTTCCTTAGTAAGG 0.473000 4 52 0 0 1 0 0 TLL1 7092 broad.mit.edu 37 4 166976293 166976293 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr4:166976293C>T ENST00000061240.2 + 13 2237 c.1590C>T c.(1588-1590)agC>agT p.S530S TLL1_ENST00000507499.1_Silent_p.S553S NM_012464.4 NP_036596.3 O43897 TLL1_HUMAN tolloid-like 1 530 CUB 2. cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) GTGAAAATAGCCCTTTGATAG 0.368000 45 31 0 0 1 0 0 NPHS2 7827 broad.mit.edu 37 1 179533877 179533877 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:179533877G>A ENST00000367615.4 - 2 394 c.326C>T c.(325-327)tCc>tTc p.S109F NPHS2_ENST00000367616.4_Missense_Mutation_p.S109F NM_014625.2 NP_055440.1 Q9NP85 PODO_HUMAN nephrosis 2, idiopathic, steroid-resistant (podocin) 109 excretion integral to plasma membrane protein binding p.S109F(1) NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 20 GAAGAGCAGGGAAATGAGGAC 0.413000 54 8 0 0 1 0 0 TMEM67 91147 broad.mit.edu 37 8 94777836 94777836 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:94777836C>T ENST00000453321.3 + 6 671 c.613C>T c.(613-615)Cct>Tct p.P205S TMEM67_ENST00000409623.3_Missense_Mutation_p.P124S NM_153704.5 NP_714915.3 Q5HYA8 MKS3_HUMAN transmembrane protein 67 205 cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body unfolded protein binding p.P195S(1) breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1) 41 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.00896) AGGGAATTTTCCTCTACGTAG 0.328000 14 23 0 0 1 0 0 RASGEF1B 153020 broad.mit.edu 37 4 82377913 82377913 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr4:82377913G>A ENST00000436139.2 - 4 456 c.330C>T c.(328-330)atC>atT p.I110I RASGEF1B_ENST00000514889.1_5'UTR|RASGEF1B_ENST00000335927.7_Silent_p.I69I|RASGEF1B_ENST00000264400.2_Silent_p.I110I|RASGEF1B_ENST00000509081.1_Silent_p.I110I Q0VAM2 RGF1B_HUMAN RasGEF domain family, member 1B 110 N-terminal Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1) 26 GGAGTTGAAGGATTTTGGGTG 0.373000 32 20 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179615370 179615370 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:179615370G>A ENST00000360870.5 - 46 11979 c.11757C>T c.(11755-11757)ttC>ttT p.F3919F TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 9739 P -> L (in Ref. 1; CAA62188). 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) GTTCGGTTTTGAATTCATCAA 0.333000 10 20 0 0 1 0 0 SORCS1 114815 broad.mit.edu 37 10 108389027 108389027 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr10:108389027G>A ENST00000263054.6 - 19 2602 c.2595C>T c.(2593-2595)ttC>ttT p.F865F SORCS1_ENST00000344440.6_Silent_p.F865F|SORCS1_ENST00000369698.1_Silent_p.F400F NM_001206570.1|NM_052918.4 NP_001193499.1|NP_443150.3 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 865 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) CGGTCACACGGAAAATGCCCA 0.473000 11 5 0 0 1 0 0 GJB5 2709 broad.mit.edu 37 1 35223256 35223256 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:35223256C>T ENST00000338513.1 + 2 498 c.325C>T c.(325-327)Cat>Tat p.H109Y NM_005268.3 NP_005259.1 O95377 CXB5_HUMAN gap junction protein, beta 5, 31.1kDa 109 cell communication|epidermis development connexon complex|integral to membrane endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1) 10 Myeloproliferative disorder(586;0.0393) CCGAGAAGCCCATGGGGAGAA 0.622000 93 47 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41561058 41561058 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr21:41561058C>T ENST00000400454.1 - 12 2941 c.2464G>A c.(2464-2466)Gag>Aag p.E822K NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 822 Ig-like C2-type 9. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TCCTCCTTCTCCCAGCGGACT 0.512000 44 63 0 0 1 0 0 TRPV6 55503 broad.mit.edu 37 7 142574588 142574588 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:142574588C>T ENST00000359396.3 - 5 735 c.490G>A c.(490-492)Gag>Aag p.E164K RP11-114L10.2_ENST00000438839.1_RNA NM_018646.3 NP_061116.2 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, subfamily V, member 6 164 regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 42 Melanoma(164;0.059) AAAGGGTGCTCCCCTGTGGAC 0.572000 10 27 0 0 1 0 0 FCRL1 115350 broad.mit.edu 37 1 157767670 157767670 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:157767670C>T ENST00000368176.3 - 9 1241 c.1174G>A c.(1174-1176)Gaa>Aaa p.E392K FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000491942.1_Missense_Mutation_p.E392K|FCRL1_ENST00000358292.3_Intron NM_001159398.1|NM_052938.4 NP_001152870.1|NP_443170.1 Q96LA6 FCRL1_HUMAN Fc receptor-like 1 392 integral to membrane|plasma membrane receptor activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6) 42 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) GCTACTGATTCCTGCTCCGGC 0.483000 39 19 0 0 1 0 0 NEK10 152110 broad.mit.edu 37 3 27326180 27326180 + Nonsense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:27326180G>A ENST00000429845.2 - 23 2289 c.1927C>T c.(1927-1929)Cga>Tga p.R643* NEK10_ENST00000341435.5_Nonsense_Mutation_p.R643*|NEK10_ENST00000357467.2_Nonsense_Mutation_p.R40* Q6ZWH5 NEK10_HUMAN NIMA-related kinase 10 643 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.R643*(1) NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 TGTAAGTATCGAAGAGCTAAG 0.373000 23 28 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 20959876 20959876 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr16:20959876C>T ENST00000261383.3 - 57 11271 c.11272G>A c.(11272-11274)Gaa>Aaa p.E3758K DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 3758 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) TCCTCAATTTCCTTACAGTAG 0.532000 46 3 0 0 1 0 0 ZNF180 7733 broad.mit.edu 37 19 45004265 45004265 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:45004265C>T ENST00000221327.4 - 1 309 c.28G>A c.(28-30)Gaa>Aaa p.E10K ZNF180_ENST00000587047.1_Missense_Mutation_p.E10K|ZNF180_ENST00000391956.4_Missense_Mutation_p.E10K|ZNF180_ENST00000586637.1_Intron|ZNF180_ENST00000585514.1_5'UTR|ZNF180_ENST00000592529.1_Intron NM_013256.3 NP_037388.2 Q9UJW8 ZN180_HUMAN zinc finger protein 180 10 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1) 33 Prostate(69;0.0435) CTTCCAGCTTCCCGCGTAGAC 0.667000 OREG0025537 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 57 163 0 0 1 0 0 TAS2R60 338398 broad.mit.edu 37 7 143140827 143140827 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:143140827G>A ENST00000332690.1 + 1 282 c.282G>A c.(280-282)caG>caA p.Q94Q EPHA1-AS1_ENST00000429289.1_RNA NM_177437.1 NP_803186.1 P59551 T2R60_HUMAN taste receptor, type 2, member 60 94 sensory perception of bitter taste integral to membrane G-protein coupled receptor activity breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2) 31 Melanoma(164;0.172) CTGTACTGCAGTTTCTAGCTT 0.498000 48 78 0 0 1 0 0 SERPINB13 5275 broad.mit.edu 37 18 61262319 61262319 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr18:61262319C>T ENST00000344731.5 + 7 774 c.672C>T c.(670-672)ttC>ttT p.F224F SERPINB13_ENST00000269489.5_Intron NM_012397.3 NP_036529.1 Q9UIV8 SPB13_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 13 224 regulation of proteolysis|response to UV cytoplasm|extracellular region serine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1) 25 GCTTCACTTTCCTGGAGGACT 0.433000 25 55 0 0 1 0 0 ANGPTL2 23452 broad.mit.edu 37 9 129870846 129870846 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr9:129870846G>A ENST00000373425.3 - 2 782 c.165C>T c.(163-165)acC>acT p.T55T RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000394022.3_Intron|RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000373436.1_Intron|ANGPTL2_ENST00000373417.1_Intron|RALGPS1_ENST00000259351.5_Intron NM_012098.2 NP_036230.1 Q9UKU9 ANGL2_HUMAN angiopoietin-like 2 55 multicellular organismal development|signal transduction extracellular space receptor binding breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1) 18 TGAAGGTGTAGGTGCACTTGT 0.592000 26 6 0 0 1 0 0 IL1RAPL1 11141 broad.mit.edu 37 X 29973937 29973937 + Nonstop_Mutation SNP A A G TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chrX:29973937A>G ENST00000378993.1 + 11 2764 c.2091A>G c.(2089-2091)tgA>tgG p.*697W IL1RAPL1_ENST00000302196.4_Nonstop_Mutation_p.*697W NM_014271.3 NP_055086.1 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 0 innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 TGATATGGTGACAGAAAAGCA 0.512000 15 2 0 0 1 0 0 CORO2B 10391 broad.mit.edu 37 15 68987559 68987559 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr15:68987559C>T ENST00000543950.1 + 3 636 c.282C>T c.(280-282)atC>atT p.I94I CORO2B_ENST00000261861.5_Silent_p.I94I|CORO2B_ENST00000540068.1_Silent_p.I94I|CORO2B_ENST00000566799.1_Silent_p.I99I NM_001190457.1 NP_001177386.1 Q9UQ03 COR2B_HUMAN coronin, actin binding protein, 2B 99 actin cytoskeleton organization actin cytoskeleton|cytoplasm|membrane actin filament binding kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 ACCCCTTCATCGACAACATCA 0.597000 14 50 0 0 1 0 0 OR2T34 127068 broad.mit.edu 37 1 248737766 248737766 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:248737766G>A ENST00000328782.2 - 1 314 c.293C>T c.(292-294)tCc>tTc p.S98F NM_001001821.1 NP_001001821.1 Q8NGX1 O2T34_HUMAN olfactory receptor, family 2, subfamily T, member 34 98 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) GCCTGACGGGGAAATGGTATC 0.547000 48 24 0 0 1 0 0 PPP1R11 6992 broad.mit.edu 37 6 30036912 30036912 + Silent SNP T T C TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:30036912T>C ENST00000376772.3 + 3 533 c.210T>C c.(208-210)ttT>ttC p.F70F PPP1R11_ENST00000376763.1_Silent_p.F18F|PPP1R11_ENST00000376765.2_Silent_p.F18F|PPP1R11_ENST00000376758.1_Silent_p.F18F|PPP1R11_ENST00000376769.2_Silent_p.F18F|PPP1R11_ENST00000376773.1_Silent_p.F18F NM_021959.2 NP_068778.1 O60927 PP1RB_HUMAN protein phosphatase 1, regulatory (inhibitor) subunit 11 70 soluble fraction protein binding|protein phosphatase inhibitor activity lung(2)|ovary(1)|prostate(1)|skin(2) 6 CTCGGGCCTTTGGCGAGAGCT 0.522000 20 63 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196759830 196759830 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:196759830G>A ENST00000312428.6 - 30 4866 c.4766C>T c.(4765-4767)tCc>tTc p.S1589F NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1589 AAA 2 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 AATCTTCTCGGAAAAGAATGC 0.368000 14 24 0 0 1 0 0 IGKV1-27 28935 broad.mit.edu 37 2 89513063 89513063 + RNA SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:89513063G>A ENST00000498435.1 - 0 226 AGGAGCTTAGGAACTTTCCCT 0.512000 56 92 0 0 1 0 0 ONECUT2 9480 broad.mit.edu 37 18 55104091 55104091 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr18:55104091C>T ENST00000491143.2 + 1 1175 c.1143C>T c.(1141-1143)ctC>ctT p.L381L NM_004852.2 NP_004843.2 O95948 ONEC2_HUMAN one cut homeobox 2 381 organ morphogenesis nucleus sequence-specific DNA binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1) 15 Colorectal(73;0.234) READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245) GGAGTAAACTCAAATCTGGCA 0.607000 13 29 0 0 1 0 0 LINGO3 645191 broad.mit.edu 37 19 2291207 2291207 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:2291207G>A ENST00000585527.1 - 1 816 c.569C>T c.(568-570)tCc>tTc p.S190F LINGO3_ENST00000404279.1_Missense_Mutation_p.S190F P0C6S8 LIGO3_HUMAN leucine rich repeat and Ig domain containing 3 190 integral to membrane lung(1)|urinary_tract(1) 2 CGACTCCCCGGACAGAGCCGT 0.721000 11 9 0 0 1 0 0 TCP10L 140290 broad.mit.edu 37 21 33951122 33951122 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr21:33951122C>T ENST00000300258.3 - 4 493 c.380G>A c.(379-381)gGa>gAa p.G127E TCP10L_ENST00000491828.1_5'UTR NM_144659.5 NP_653260.1 t-complex 10-like breast(1)|central_nervous_system(1)|liver(1)|skin(1) 4 TGAAATTTTTCCAAAAGCAGG 0.373000 33 51 0 0 1 0 0 NCR2 9436 broad.mit.edu 37 6 41309751 41309751 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:41309751C>T ENST00000373086.3 + 4 570 c.544C>T c.(544-546)Ctt>Ttt p.L182F NCR2_ENST00000373089.5_Intron|NCR2_ENST00000373083.4_Intron NM_001199509.1 NP_001186438.1 O95944 NCTR2_HUMAN natural cytotoxicity triggering receptor 2 174 cellular defense response integral to plasma membrane transmembrane receptor activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1) 14 Ovarian(28;0.0327)|Colorectal(47;0.196) GTCCTCTCCCCTTCCTGTCCC 0.662000 23 101 0 0 1 0 0 EMILIN1 11117 broad.mit.edu 37 2 27302058 27302058 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:27302058G>A ENST00000380320.4 + 1 624 c.125G>A c.(124-126)gGg>gAg p.G42E NM_007046.3 NP_008977.1 Q9Y6C2 EMIL1_HUMAN elastin microfibril interfacer 1 42 cell adhesion collagen breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 26 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTCAGCCCCGGGGGGCCCCAG 0.682000 9 25 0 0 1 0 0 OR52B4 143496 broad.mit.edu 37 11 4389049 4389049 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:4389049G>A ENST00000408920.2 - 1 567 c.477C>T c.(475-477)ttC>ttT p.F159F NM_001005161.3 NP_001005161.2 Q8NGK2 O52B4_HUMAN olfactory receptor, family 52, subfamily B, member 4 159 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2) 31 Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577) Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19) ATATGATAGGGAAAATTGTAC 0.363000 19 22 0 0 1 0 0 SLCO1A2 6579 broad.mit.edu 37 12 21457486 21457486 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:21457486G>A ENST00000307378.6 - 7 1184 c.464C>T c.(463-465)tCa>tTa p.S155L SLCO1A2_ENST00000458504.1_Missense_Mutation_p.S23L|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.S153L|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.S23L|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.S155L NM_134431.3 NP_602307.1 P46721 SO1A2_HUMAN solute carrier organic anion transporter family, member 1A2 155 bile acid metabolic process|sodium-independent organic anion transport integral to membrane|plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1) 48 CCACATTAATGATTTAACTTC 0.353000 14 46 0 0 1 0 0 XKR7 343702 broad.mit.edu 37 20 30584802 30584802 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr20:30584802G>A ENST00000217299.3 + 3 1456 c.1282G>A c.(1282-1284)Ggc>Agc p.G428S NM_001011718.1 NP_001011718.1 Q5GH72 XKR7_HUMAN XK, Kell blood group complex subunit-related family, member 7 428 integral to membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 34 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) CTTTGCGCTGGGCATATTCTT 0.587000 41 98 0 0 1 0 0 ACOXL 55289 broad.mit.edu 37 2 111542359 111542359 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:111542359C>T ENST00000389811.4 + 3 350 c.126C>T c.(124-126)gtC>gtT p.V42V ACOXL_ENST00000439055.1_Silent_p.V42V|ACOXL_ENST00000340561.4_Silent_p.V42V Q9NUZ1 ACOXL_HUMAN acyl-CoA oxidase-like 42 fatty acid beta-oxidation peroxisome acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1) 21 TAGGAGAAGTCCTCTCCATGG 0.478000 20 49 0 0 1 0 0 CERKL 375298 broad.mit.edu 37 2 182403989 182403989 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:182403989G>A ENST00000410087.3 - 12 1468 c.1368C>T c.(1366-1368)ttC>ttT p.F456F CERKL_ENST00000409440.3_Silent_p.F438F|CERKL_ENST00000374969.2_Silent_p.F343F|CERKL_ENST00000374970.2_Silent_p.F387F|CERKL_ENST00000339098.5_Silent_p.F482F NM_001030311.2|NM_201548.4 NP_001025482.1|NP_963842.1 Q49MI3 CERKL_HUMAN ceramide kinase-like 482 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis endoplasmic reticulum|Golgi apparatus|nucleolus diacylglycerol kinase activity NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3) 32 OV - Ovarian serous cystadenocarcinoma(117;0.088) ATGGAAAATTGAACTAAAAAT 0.353000 19 19 0 0 1 0 0 CEP250 11190 broad.mit.edu 37 20 34092150 34092150 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr20:34092150C>T ENST00000397527.1 + 30 6673 c.5953C>T c.(5953-5955)Ctc>Ttc p.L1985F CEP250_ENST00000342580.4_Missense_Mutation_p.L1929F NM_007186.3 NP_009117.2 Q9BV73 CP250_HUMAN centrosomal protein 250kDa 1985 Gln/Glu-rich. centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) GCAGCATCTCCTCGAGCAGGC 0.672000 5 9 0 0 1 0 0 STAM2 10254 broad.mit.edu 37 2 153000417 153000417 + Missense_Mutation SNP A A T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:153000417A>T ENST00000263904.4 - 7 977 c.628T>A c.(628-630)Tta>Ata p.L210I STAM2_ENST00000465460.1_5'UTR NM_005843.4 NP_005834.4 O75886 STAM2_HUMAN signal transducing adaptor molecule (SH3 domain and ITAM motif) 2 210 SH3. cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway cytosol|early endosome membrane protein binding endometrium(3)|large_intestine(4)|lung(8)|ovary(1) 16 BRCA - Breast invasive adenocarcinoma(221;0.22) AAATCATATAAAGCTCTCACT 0.333000 23 23 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 215824121 215824121 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:215824121C>T ENST00000366943.2 - 65 14542 c.14156G>A c.(14155-14157)gGa>gAa p.G4719E USH2A_ENST00000307340.3_Missense_Mutation_p.G4719E O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 4719 Fibronectin type-III 32. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GGGGGCTTTTCCTGCAGAATT 0.488000 HNSCC(13;0.011) 104 47 0 0 1 0 0 KRTAP5-4 387267 broad.mit.edu 37 11 1643027 1643027 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:1643027C>T ENST00000399682.1 - 1 341 c.297G>A c.(295-297)ggG>ggA p.G99G NM_001012709.1 NP_001012727.1 Q6L8H1 KRA54_HUMAN keratin associated protein 5-4 99 9 X 4 AA repeats of C-C-X-P. keratin filament NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2) 20 all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) AGCCACAGCCCCCCTTGGAAC 0.682000 11 191 0 0 1 0 0 PLIN4 729359 broad.mit.edu 37 19 4513695 4513695 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:4513695C>T ENST00000301286.3 - 3 234 c.235G>A c.(235-237)Gac>Aac p.D79N NM_001080400.1 NP_001073869.1 Q96Q06 PLIN4_HUMAN perilipin 4 79 lipid particle|plasma membrane NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2) 41 CACACCAGGTCTTTGGCCCCG 0.622000 10 19 0 0 1 0 0 LINGO3 645191 broad.mit.edu 37 19 2291206 2291206 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:2291206G>A ENST00000585527.1 - 1 817 c.570C>T c.(568-570)tcC>tcT p.S190S LINGO3_ENST00000404279.1_Silent_p.S190S P0C6S8 LIGO3_HUMAN leucine rich repeat and Ig domain containing 3 190 integral to membrane lung(1)|urinary_tract(1) 2 GCGACTCCCCGGACAGAGCCG 0.721000 11 9 0 0 1 0 0 MDN1 23195 broad.mit.edu 37 6 90452922 90452922 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:90452922G>A ENST00000369393.3 - 31 4510 c.4395C>T c.(4393-4395)ttC>ttT p.F1465F MDN1_ENST00000428876.1_Silent_p.F1465F Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 1465 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) CATCCAAGAGGAAAAAGCCGT 0.448000 39 30 0 0 1 0 0 FDXACB1 91893 broad.mit.edu 37 11 111746136 111746136 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:111746136G>A ENST00000260257.4 - 5 1432 c.1385C>T c.(1384-1386)aCt>aTt p.T462I ALG9_ENST00000524880.1_Intron|ALG9_ENST00000527377.1_Intron|FDXACB1_ENST00000542429.1_Missense_Mutation_p.T313I NM_138378.2 NP_612387.1 Q9BRP7 FDXA1_HUMAN ferredoxin-fold anticodon binding domain containing 1 462 phenylalanyl-tRNA aminoacylation|tRNA processing ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(3) 19 TAGATCCTCAGTACAATCTGG 0.373000 30 29 0 0 1 0 0 GRIN2A 2903 broad.mit.edu 37 16 10274182 10274182 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr16:10274182C>T ENST00000396573.2 - 3 396 c.87G>A c.(85-87)aaG>aaA p.K29K GRIN2A_ENST00000562109.1_Silent_p.K29K|GRIN2A_ENST00000330684.3_Silent_p.K29K|GRIN2A_ENST00000396575.2_Silent_p.K29K|GRIN2A_ENST00000404927.2_Silent_p.K29K NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 29 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CGGGGGGACCCTTCTCCGCCG 0.692000 29 41 0 0 1 0 0 IKZF3 22806 broad.mit.edu 37 17 37922178 37922178 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr17:37922178C>T ENST00000346872.3 - 8 1456 c.1395G>A c.(1393-1395)gtG>gtA p.V465V IKZF3_ENST00000439167.2_Silent_p.V392V|IKZF3_ENST00000439016.2_Silent_p.V370V|IKZF3_ENST00000377944.3_Silent_p.V322V|IKZF3_ENST00000467757.1_Silent_p.V409V|IKZF3_ENST00000535189.1_Silent_p.V431V|IKZF3_ENST00000394189.2_Silent_p.V283V|IKZF3_ENST00000377945.3_Silent_p.V331V|IKZF3_ENST00000377952.2_Silent_p.V244V|IKZF3_ENST00000377958.2_Silent_p.V378V|IKZF3_ENST00000351680.3_Silent_p.V426V|IKZF3_ENST00000350532.3_Silent_p.V426V|IKZF3_ENST00000346243.3_Silent_p.V387V|IKZF3_ENST00000583368.1_Silent_p.V218V NM_012481.4 NP_036613.2 Q9UKT9 IKZF3_HUMAN IKAROS family zinc finger 3 (Aiolos) 465 B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) TCGTGAACATCACATAGTCCA 0.522000 41 91 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103388895 103388895 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:103388895G>A ENST00000358392.2 - 47 4004 c.3687C>T c.(3685-3687)ccC>ccT p.P1229P COL11A1_ENST00000353414.4_Silent_p.P1178P|COL11A1_ENST00000512756.1_Silent_p.P1101P|COL11A1_ENST00000370096.3_Silent_p.P1217P NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1217 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) AACTTACCATGGGACCAACAT 0.338000 10 6 0 0 1 0 0 ALLC 55821 broad.mit.edu 37 2 3726132 3726132 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:3726132G>A ENST00000252505.3 + 4 321 c.159G>A c.(157-159)agG>agA p.R53R NM_018436.3 NP_060906.3 Q8N6M5 ALLC_HUMAN allantoicase 72 allantoicase activity breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 30 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088) all_cancers(51;0.24) OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206) AGACCAGGAGGAAAAGGATTC 0.493000 HNSCC(21;0.051) 7 31 0 0 1 0 0 DENND5A 23258 broad.mit.edu 37 11 9215151 9215151 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:9215151G>A ENST00000328194.3 - 5 1347 c.1027C>T c.(1027-1029)Cct>Tct p.P343S DENND5A_ENST00000530044.1_Missense_Mutation_p.P343S NM_001243254.1|NM_015213.3 NP_001230183.1|NP_056028.2 Q6IQ26 DEN5A_HUMAN DENN/MADD domain containing 5A 343 DENN. breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 GGGAGAATAGGGACATAGACA 0.478000 38 52 0 0 1 0 0 OR10S1 219873 broad.mit.edu 37 11 123848276 123848276 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:123848276G>A ENST00000531945.1 - 1 212 c.123C>T c.(121-123)ttC>ttT p.F41F NM_001004474.1 NP_001004474.1 Q8NGN2 O10S1_HUMAN olfactory receptor, family 10, subfamily S, member 1 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 36 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;0.0399) GGAAGAGGAGGAAGAAGAGGC 0.517000 23 27 0 0 1 0 0 PCDHA9 9752 broad.mit.edu 37 5 140229899 140229899 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:140229899C>T ENST00000378122.3 + 1 2543 c.1819C>T c.(1819-1821)Ctt>Ttt p.L607F PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.L607F|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron NM_014005.3 NP_054724.1 breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 59 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAACGCGTGGCTTTCATACGA 0.672000 49 64 0 0 1 0 0 C12orf50 160419 broad.mit.edu 37 12 88379773 88379773 + Missense_Mutation SNP C C T rs78562422 byFrequency TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:88379773C>T ENST00000298699.2 - 11 1160 c.980G>A c.(979-981)cGa>cAa p.R327Q C12orf50_ENST00000550553.1_Missense_Mutation_p.R288Q NM_152589.1 NP_689802.1 Q8NA57 CL050_HUMAN chromosome 12 open reading frame 50 327 p.R327Q(1) NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2) 34 CTCCGCATTTCGATTTTTATT 0.488000 9 67 0 0 1 0 0 RAB11FIP1 80223 broad.mit.edu 37 8 37732414 37732414 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:37732414G>A ENST00000330843.4 - 3 1253 c.1241C>T c.(1240-1242)cCc>cTc p.P414L RAB11FIP1_ENST00000524118.1_Missense_Mutation_p.P266L|RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.P414L|RAB11FIP1_ENST00000522727.1_Missense_Mutation_p.P266L NM_001002814.2 NP_001002814.2 Q6WKZ4 RFIP1_HUMAN RAB11 family interacting protein 1 (class I) 414 protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 49 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) TGAGTTTGCGGGGGCCATGTT 0.562000 38 53 0 0 1 0 0 TICAM1 148022 broad.mit.edu 37 19 4817136 4817136 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:4817136G>A ENST00000248244.5 - 2 1483 c.1254C>T c.(1252-1254)gcC>gcT p.A418A NM_182919.3 NP_891549.1 Q8IUC6 TCAM1_HUMAN toll-like receptor adaptor molecule 1 418 TIR. apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|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 cytosol|endosome membrane|plasma membrane protein kinase binding|signal transducer activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) GCACGCCAAGGGCCTCCAGCT 0.612000 19 36 0 0 1 0 0 ATP1A3 478 broad.mit.edu 37 19 42489288 42489288 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:42489288G>A ENST00000545399.1 - 8 967 c.814C>T c.(814-816)Cgt>Tgt p.R272C ATP1A3_ENST00000302102.5_Missense_Mutation_p.R259C|ATP1A3_ENST00000602133.1_Missense_Mutation_p.R229C|ATP1A3_ENST00000543770.1_Missense_Mutation_p.R270C NM_001256214.1 NP_001243143.1 P13637 AT1A3_HUMAN ATPase, Na+/K+ transporting, alpha 3 polypeptide 259 ATP biosynthetic process endoplasmic reticulum|Golgi apparatus ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 52 GTGGCGATACGGCCCATGACA 0.662000 15 14 0 0 1 0 0 PCDHA10 56139 broad.mit.edu 37 5 140236829 140236829 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:140236829C>T ENST00000307360.5 + 1 1196 c.1196C>T c.(1195-1197)aCc>aTc p.T399I PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.T399I|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron NM_018901.2|NM_031859.1 NP_061724.1|NP_114065.1 NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 79 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGGTGTCCACCTACAAGAAT 0.592000 72 91 0 0 1 0 0 VCX2 51480 broad.mit.edu 37 X 8138246 8138246 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chrX:8138246C>T ENST00000317103.4 - 3 553 c.247G>A c.(247-249)Gag>Aag p.E83K NM_016378.2 NP_057462.2 Q9H322 VCX2_HUMAN variable charge, X-linked 2 83 endometrium(1) 1 Colorectal(8;0.0136)|Medulloblastoma(8;0.184) TGAGGGAGCTCCTGGCTGGGC 0.697000 46 6 0 0 1 0 0 DKK2 27123 broad.mit.edu 37 4 107845207 107845207 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr4:107845207G>A ENST00000285311.3 - 4 1389 c.684C>T c.(682-684)ttC>ttT p.F228F DKK2_ENST00000513208.1_Silent_p.F128F|DKK2_ENST00000510463.1_Silent_p.F182F NM_014421.2 NP_055236.1 Q9UBU2 DKK2_HUMAN dickkopf WNT signaling pathway inhibitor 2 228 DKK-type Cys-2. multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway extracellular space autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 32 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.34e-06) CGCAACGCTGGAAAATTTCCA 0.493000 27 107 0 0 1 0 0 CPLX2 10814 broad.mit.edu 37 5 175306953 175306953 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:175306953G>A ENST00000359546.4 + 5 953 c.310G>A c.(310-312)Ggc>Agc p.G104S CPLX2_ENST00000515094.1_Missense_Mutation_p.G104S|CPLX2_ENST00000393745.3_Missense_Mutation_p.G104S NM_001008220.1|NM_006650.3 NP_001008221.1|NP_006641.1 Q6PUV4 CPLX2_HUMAN complexin 2 104 mast cell degranulation|positive regulation of synaptic plasticity|vesicle docking involved in exocytosis cytosol endometrium(3)|kidney(2)|lung(3)|ovary(2) 10 all_cancers(89;0.004)|Renal(175;0.000269)|Lung NSC(126;0.00441)|all_lung(126;0.00747) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) CATCCCTGCGGGCTGCGGGGA 0.627000 18 13 0 0 1 0 0 CCDC102B 79839 broad.mit.edu 37 18 66506047 66506047 + Silent SNP G G A rs147553785 TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr18:66506047G>A ENST00000360242.5 + 3 828 c.711G>A c.(709-711)acG>acA p.T237T CCDC102B_ENST00000319445.6_Silent_p.T237T|CCDC102B_ENST00000358653.5_Silent_p.T237T|CCDC102B_ENST00000584156.1_Silent_p.T237T|CCDC102B_ENST00000577772.1_3'UTR NM_024781.2 NP_079057.2 Q68D86 C102B_HUMAN coiled-coil domain containing 102B 237 breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1) 36 Esophageal squamous(42;0.0559)|Colorectal(73;0.0604) ACGGTGAAACGAAAACTGGGC 0.373000 19 34 0 0 1 0 0 DNAH1 25981 broad.mit.edu 37 3 52397078 52397078 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:52397078C>T ENST00000420323.2 + 32 5423 c.5162C>T c.(5161-5163)tCc>tTc p.S1721F NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 1721 AAA 1 (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) TCCCTCTATTCCTTTGGCTTT 0.532000 57 70 0 0 1 0 0 RNMTL1 55178 broad.mit.edu 37 17 685745 685745 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr17:685745C>T ENST00000304478.4 + 1 233 c.127C>T c.(127-129)Cct>Tct p.P43S NM_018146.2 NP_060616.1 Q9HC36 RMTL1_HUMAN RNA methyltransferase like 1 43 RNA processing protein binding|RNA binding|RNA methyltransferase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 10 UCEC - Uterine corpus endometrioid carcinoma (25;0.0219) AGTGGTGTTTCCTTCCGGAGA 0.647000 19 10 0 0 1 0 0 ADH7 131 broad.mit.edu 37 4 100349304 100349304 + Missense_Mutation SNP G G C TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr4:100349304G>C ENST00000437033.2 - 4 790 c.287C>G c.(286-288)cCa>cGa p.P96R ADH7_ENST00000209665.4_Missense_Mutation_p.P108R|ADH7_ENST00000482593.1_Missense_Mutation_p.P39R|ADH7_ENST00000476959.1_Missense_Mutation_p.P116R P40394 ADH7_HUMAN alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide 108 ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process cytosol|soluble fraction alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1) 19 OV - Ovarian serous cystadenocarcinoma(123;1.75e-08) NADH(DB00157) TCTACATTGTGGCAGAAAGAG 0.338000 22 63 0 0 1 0 0 MCHR2 84539 broad.mit.edu 37 6 100390904 100390904 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:100390904C>T ENST00000281806.2 - 4 822 c.508G>A c.(508-510)Gtc>Atc p.V170I MCHR2_ENST00000445970.1_Missense_Mutation_p.V170I|MCHR2_ENST00000369212.1_Missense_Mutation_p.V170I NM_001040179.1 NP_001035269.1 Q969V1 MCHR2_HUMAN melanin-concentrating hormone receptor 2 170 integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 39 all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069) BRCA - Breast invasive adenocarcinoma(108;0.0429) TTCGAGTAGACCCAGACAGGC 0.453000 23 95 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216497555 216497555 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:216497555C>T ENST00000366943.2 - 7 1669 c.1283G>A c.(1282-1284)gGa>gAa p.G428E USH2A_ENST00000366942.3_Missense_Mutation_p.G428E|USH2A_ENST00000307340.3_Missense_Mutation_p.G428E O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 428 Laminin N-terminal. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TTCCAAATCTCCATTGTTTTT 0.318000 HNSCC(13;0.011) 4 25 0 0 1 0 0 OR51B2 79345 broad.mit.edu 37 11 5344806 5344806 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:5344806G>A ENST00000328813.2 - 1 776 c.722C>T c.(721-723)tCc>tTc p.S241F HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron NM_033180.4 NP_149420.4 Q9Y5P1 O51B2_HUMAN olfactory receptor, family 51, subfamily B, member 2 241 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACTAATGTGGGAGATACAGGT 0.398000 26 28 0 0 1 0 0 FURIN 5045 broad.mit.edu 37 15 91421520 91421520 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr15:91421520C>T ENST00000268171.3 + 8 1105 c.826C>T c.(826-828)Cgt>Tgt p.R276C NM_002569.2 NP_002560.1 P09958 FURIN_HUMAN furin (paired basic amino acid cleaving enzyme) 276 cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3) 36 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) GGCCTTCTTCCGTGGGGTTAG 0.587000 11 38 0 0 1 0 0 MYLK2 85366 broad.mit.edu 37 20 30409458 30409458 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr20:30409458C>T ENST00000375994.2 + 3 963 c.690C>T c.(688-690)ttC>ttT p.F230F MYLK2_ENST00000375985.4_Silent_p.F230F Q9H1R3 MYLK2_HUMAN myosin light chain kinase 2 230 cardiac muscle tissue morphogenesis|regulation of muscle filament sliding ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 33 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) GGATTGAGTTCCAGGCTGTTC 0.602000 30 149 0 0 1 0 0 USP32 84669 broad.mit.edu 37 17 58332545 58332545 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr17:58332545G>A ENST00000300896.4 - 10 1259 c.1065C>T c.(1063-1065)ctC>ctT p.L355L USP32_ENST00000393003.3_Silent_p.L355L|USP32_ENST00000592339.1_Silent_p.L25L NM_032582.3 NP_115971.2 Q8NFA0 UBP32_HUMAN ubiquitin specific peptidase 32 355 protein deubiquitination|ubiquitin-dependent protein catabolic process Golgi apparatus|membrane calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1) 62 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198) CCTGGAAAAGGAGGTTCAAAA 0.393000 17 26 0 0 1 0 0 URB2 9816 broad.mit.edu 37 1 229773631 229773631 + Missense_Mutation SNP G G C rs146627260 TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:229773631G>C ENST00000258243.2 + 4 3407 c.3271G>C c.(3271-3273)Gtt>Ctt p.V1091L NM_014777.2 NP_055592.2 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog (S. cerevisiae) 1091 nucleolus breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6) 73 GCTGCAGCAGGTTGTGCTGCA 0.622000 20 98 0 0 1 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95497757 95497757 + RNA SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:95497757C>T ENST00000432432.2 - 0 1086 NR_040113.1 CTCACCTTCTCCTTGTCCATT 0.473000 72 124 0 0 1 0 0 MUC20 200958 broad.mit.edu 37 3 195452027 195452027 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:195452027C>T ENST00000320736.6 + 2 679 c.553C>T c.(553-555)Cca>Tca p.P185S MUC20_ENST00000445522.2_Missense_Mutation_p.P150S|MUC20_ENST00000447234.2_Missense_Mutation_p.P185S|MUC20_ENST00000436408.1_Missense_Mutation_p.P185S NM_001098516.1|NM_152673.2 NP_001091986.1|NP_689886.2 Q8N307 MUC20_HUMAN mucin 20, cell surface associated 356 12 X 20 AA approximate tandem repeats of S-S-E-S-S-A-S-S-D-S-P-H-P-V-I-T-P-S-R-A.|Ser-rich. Missing. protein homooligomerization apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1) 23 all_cancers(143;1.8e-08)|Ovarian(172;0.0634) Lung NSC(153;0.191) Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128) GBM - Glioblastoma multiforme(46;1.66e-05) CAGCCCCCATCCAGTCATCAC 0.612000 47 16 0 0 1 0 0 ZNF44 51710 broad.mit.edu 37 19 12383811 12383811 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:12383811G>A ENST00000356109.5 - 5 1521 c.1403C>T c.(1402-1404)cCc>cTc p.P468L ZNF44_ENST00000355684.5_Missense_Mutation_p.P420L NM_001164276.1 NP_001157748.1 P15621 ZNF44_HUMAN zinc finger protein 44 468 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleus DNA binding|protein binding|zinc ion binding ovary(1) 1 Renal(1328;0.157) GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179) GCATTCATAGGGTTTCTCTCC 0.433000 13 30 0 0 1 0 0 EPHA7 2045 broad.mit.edu 37 6 93965644 93965644 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:93965644G>A ENST00000369303.4 - 13 2468 c.2284C>T c.(2284-2286)Cgc>Tgc p.R762C NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 762 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) AGAATATTGCGAGCTGCAAGG 0.423000 40 42 0 0 1 0 0 NBEA 26960 broad.mit.edu 37 13 36241668 36241668 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr13:36241668G>A ENST00000400445.3 + 56 9093 c.8559G>A c.(8557-8559)ggG>ggA p.G2853G NBEA_ENST00000537702.1_Silent_p.G646G|NBEA_ENST00000379939.2_Silent_p.G2850G|NBEA_ENST00000540320.1_Silent_p.G2853G|NBEA_ENST00000379922.3_Silent_p.G431G|NBEA_ENST00000310336.4_Silent_p.G2853G NM_015678.4 NP_056493.3 Q8NFP9 NBEA_HUMAN neurobeachin 2853 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) GCATTAATGGGAAACTTTTGG 0.403000 45 131 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113173532 113173532 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr9:113173532C>T ENST00000401783.2 - 37 6795 c.6459G>A c.(6457-6459)atG>atA p.M2153I SVEP1_ENST00000297826.5_Missense_Mutation_p.M79I|SVEP1_ENST00000374469.1_Missense_Mutation_p.M2130I NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 2153 Sushi 13. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 CATAGCCATTCATGATGCTTG 0.517000 30 13 0 0 1 0 0 SYT1 6857 broad.mit.edu 37 12 79747315 79747315 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:79747315C>T ENST00000261205.4 + 9 1501 c.844C>T c.(844-846)Cgc>Tgc p.R282C SYT1_ENST00000457153.2_Missense_Mutation_p.R279C|SYT1_ENST00000393240.3_Missense_Mutation_p.R282C|SYT1_ENST00000552744.1_Missense_Mutation_p.R282C NM_005639.2 NP_005630.1 P21579 SYT1_HUMAN synaptotagmin I 282 Phospholipid binding (Probable). detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane 1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6) 25 CTTCTCCCTTCGCTACGTACC 0.393000 24 86 0 0 1 0 0 MYO3A 53904 broad.mit.edu 37 10 26359298 26359298 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr10:26359298C>T ENST00000265944.5 + 14 1493 c.1327C>T c.(1327-1329)Ctt>Ttt p.L443F MYO3A_ENST00000543632.1_Missense_Mutation_p.L443F NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 443 Myosin head-like. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 AAATGCTCATCTTTTAGTTCA 0.323000 3 22 0 0 1 0 0 OR52N2 390077 broad.mit.edu 37 11 5841679 5841679 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:5841679C>T ENST00000317037.2 + 1 136 c.114C>T c.(112-114)atC>atT p.I38I TRIM5_ENST00000380027.1_Intron NM_001005174.1 NP_001005174.1 Q8NGI0 O52N2_HUMAN olfactory receptor, family 52, subfamily N, member 2 38 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1) 32 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TTATGTACATCATTGCTGTCG 0.557000 39 48 0 0 1 0 0 BAP1 8314 broad.mit.edu 37 3 52437159 52437159 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:52437159G>A ENST00000460680.1 - 14 2356 c.1885C>T c.(1885-1887)Ccc>Tcc p.P629S BAP1_ENST00000296288.5_Missense_Mutation_p.P611S NM_004656.2 NP_004647.1 Q92560 BAP1_HUMAN BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) 629 Interaction with BRCA1. monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process cytoplasm|nucleolus|PR-DUB complex chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2) 180 BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277) CTCACCTTGGGTGAGTATTTC 0.577000 """N, Mis, F, S, O""" """uveal melanoma, breast, NSCLC, RCC""" """mesothelioma, uveal melanoma""" 23 30 0 0 1 0 0 HAL 3034 broad.mit.edu 37 12 96379864 96379864 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:96379864G>A ENST00000261208.3 - 13 1494 c.1126C>T c.(1126-1128)Cac>Tac p.H376Y HAL_ENST00000541929.1_Missense_Mutation_p.H168Y|HAL_ENST00000538703.1_Missense_Mutation_p.H376Y NM_002108.3 NP_002099.1 P42357 HUTH_HUMAN histidine ammonia-lyase 376 biosynthetic process|histidine catabolic process cytosol histidine ammonia-lyase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 34 L-Histidine(DB00117) GATGGGTGGTGATCTGAGTCC 0.433000 22 19 0 0 1 0 0 WWTR1 25937 broad.mit.edu 37 3 149290772 149290772 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:149290772G>A ENST00000465804.1 - 4 703 c.447C>T c.(445-447)atC>atT p.I149I WWTR1_ENST00000467467.1_Silent_p.I149I|WWTR1_ENST00000360632.3_Silent_p.I149I NM_001168278.1 NP_001161750.1 Q9GZV5 WWTR1_HUMAN WW domain containing transcription regulator 1 149 WW. hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent cytoplasm transcription coactivator activity breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1) 23 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) GCCATGTGGTGATTTTTTCTA 0.408000 T CAMTA1 epitheliod hemangioendothelioma 23 41 0 0 1 0 0 CPS1 1373 broad.mit.edu 37 2 211471650 211471650 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:211471650C>T ENST00000233072.5 + 18 2373 c.2177C>T c.(2176-2178)gCc>gTc p.A726V CPS1_ENST00000430249.2_Missense_Mutation_p.A732V|CPS1_ENST00000451903.2_Missense_Mutation_p.A275V NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 726 ATP-grasp 1. carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) TCTGCTCTGGCCTCAAAAGCC 0.433000 17 31 0 0 1 0 0 POLR2B 5431 broad.mit.edu 37 4 57865805 57865805 + Missense_Mutation SNP G G T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr4:57865805G>T ENST00000381227.1 + 8 1171 c.758G>T c.(757-759)gGt>gTt p.G253V POLR2B_ENST00000441246.2_Missense_Mutation_p.G246V|POLR2B_ENST00000431623.2_Missense_Mutation_p.G178V|POLR2B_ENST00000314595.5_Missense_Mutation_p.G253V P30876 RPB2_HUMAN polymerase (RNA) II (DNA directed) polypeptide B, 140kDa 253 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1) 52 Glioma(25;0.08)|all_neural(26;0.181) AGTGCTATTGGTCAGCGCATT 0.353000 40 21 2.00842e-17 2.03334e-17 1 1 0 ZNF155 7711 broad.mit.edu 37 19 44500381 44500381 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:44500381C>T ENST00000270014.2 + 5 500 c.372C>T c.(370-372)ttC>ttT p.F124F ZNF155_ENST00000407951.2_Silent_p.F135F|ZNF155_ENST00000590615.1_Silent_p.F124F NM_001260487.1|NM_198089.2 NP_001247416.1|NP_932355.2 Q12901 ZN155_HUMAN zinc finger protein 155 124 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 15 Prostate(69;0.0352) ACTCTCAGTTCTTTGAAAATG 0.458000 27 30 0 0 1 0 0 SLCO4C1 353189 broad.mit.edu 37 5 101593742 101593742 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:101593742G>A ENST00000310954.6 - 7 1464 c.1178C>T c.(1177-1179)tCa>tTa p.S393L NM_180991.4 NP_851322.3 Q6ZQN7 SO4C1_HUMAN solute carrier organic anion transporter family, member 4C1 393 cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis basolateral plasma membrane|integral to membrane sodium-independent organic anion transmembrane transporter activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 50 all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486) Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986) TAAGGCTTCTGAAGAAGTTGA 0.318000 13 24 0 0 1 0 0 SRCAP 10847 broad.mit.edu 37 16 30748969 30748969 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr16:30748969C>T ENST00000262518.4 + 34 7993 c.7608C>T c.(7606-7608)atC>atT p.I2536I SRCAP_ENST00000395059.2_Silent_p.I2474I|SRCAP_ENST00000344771.4_Silent_p.I2378I NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 2536 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) CTGTGCCCATCTCTGCCTCAG 0.587000 48 72 0 0 1 0 0 WDR86 349136 broad.mit.edu 37 7 151082370 151082370 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:151082370C>T ENST00000469830.2 - 4 771 c.730G>A c.(730-732)Gag>Aag p.E244K WDR86_ENST00000477459.1_Intron|WDR86_ENST00000334493.6_Intron|WDR86_ENST00000463000.1_Intron Q86TI4 WDR86_HUMAN WD repeat domain 86 244 breast(1)|endometrium(2)|kidney(1)|lung(6) 10 OV - Ovarian serous cystadenocarcinoma(82;0.00419) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CCAGACCTCTCCCTCTATAAG 0.647000 10 15 0 0 1 0 0 SBSN 374897 broad.mit.edu 37 19 36018807 36018807 + Missense_Mutation SNP A A G TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:36018807A>G ENST00000452271.2 - 1 405 c.377T>C c.(376-378)gTt>gCt p.V126A SBSN_ENST00000518157.1_Splice_Site NM_001166034.1 NP_001159506.1 Q6UWP8 SBSN_HUMAN suprabasin 126 Ala/Gly/His-rich. extracellular region large_intestine(5)|lung(6)|ovary(1)|prostate(2) 14 all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) CTCCTTCCCAACCTGTCCAGC 0.562000 76 85 0 0 1 0 0 HIST1H3B 8358 broad.mit.edu 37 6 26032060 26032060 + Nonsense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:26032060G>A ENST00000244661.2 - 1 228 c.229C>T c.(229-231)Caa>Taa p.Q77* NM_003537.3 NP_003528.1 P68431 H31_HUMAN histone cluster 1, H3b 77 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1) 25 TTGAAGTCTTGGGCGATTTCT 0.597000 77 76 0 0 1 0 0 DCAF4L1 285429 broad.mit.edu 37 4 41983993 41983993 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr4:41983993C>T ENST00000333141.5 + 1 281 c.184C>T c.(184-186)Cgg>Tgg p.R62W NM_001029955.3 NP_001025126.2 Q3SXM0 DC4L1_HUMAN DDB1 and CUL4 associated factor 4-like 1 62 breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1) 37 GGTCCAAATTCGGAGCTTGGA 0.532000 16 55 0 0 1 0 0 ZNF573 126231 broad.mit.edu 37 19 38230877 38230877 + Missense_Mutation SNP G G A rs149253687 byFrequency TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:38230877G>A ENST00000339503.4 - 8 841 c.340C>T c.(340-342)Cgt>Tgt p.R114C ZNF573_ENST00000392138.1_Missense_Mutation_p.R85C|ZNF573_ENST00000585724.1_3'UTR|ZNF573_ENST00000536220.1_Missense_Mutation_p.R84C|ZNF573_ENST00000590414.2_Missense_Mutation_p.R172C|ZNF573_ENST00000357309.3_Missense_Mutation_p.R84C NM_152360.3 NP_689573.3 Q86YE8 ZN573_HUMAN zinc finger protein 573 152 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R114C(1) NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146) TAGCCACTACGAAAGTTCTTC 0.373000 27 63 0 0 1 0 0 ATXN2L 11273 broad.mit.edu 37 16 28847497 28847497 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr16:28847497C>T ENST00000336783.4 + 22 3306 c.3139C>T c.(3139-3141)Cgt>Tgt p.R1047C RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000340394.8_Intron|ATXN2L_ENST00000325215.6_Splice_Site_p.P1047_splice|ATXN2L_ENST00000382686.4_Intron|ATXN2L_ENST00000570200.1_Splice_Site_p.L1047_splice|ATXN2L_ENST00000395547.2_Splice_Site_p.L1047_splice|ATXN2L_ENST00000564304.1_Splice_Site_p.L1053_splice NM_007245.3 NP_009176.2 Q8WWM7 ATX2L_HUMAN ataxin 2-like 1047 membrane breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 TGACAGGATTCGTGAGTTCTC 0.612000 61 86 0 0 1 0 0 MAST2 23139 broad.mit.edu 37 1 46487735 46487735 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:46487735C>T ENST00000361297.2 + 12 1687 c.1404C>T c.(1402-1404)ctC>ctT p.L468L MAST2_ENST00000372009.2_Silent_p.L398L|MAST2_ENST00000372008.1_Silent_p.L353L NM_015112.2 NP_055927.2 Q6P0Q8 MAST2_HUMAN microtubule associated serine/threonine kinase 2 468 regulation of interleukin-12 biosynthetic process|spermatid differentiation cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity breast(1)|lung(3)|ovary(5)|stomach(2) 11 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184) AGCTGGGCCTCACCCGGGATC 0.552000 138 55 0 0 1 0 0 ZMAT1 84460 broad.mit.edu 37 X 101159207 101159207 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chrX:101159207G>A ENST00000372782.3 - 3 265 c.218C>T c.(217-219)tCa>tTa p.S73L ZMAT1_ENST00000540921.1_Missense_Mutation_p.S73L|ZMAT1_ENST00000458570.1_5'UTR NM_001011657.3 NP_001011657.2 A7MD47 A7MD47_HUMAN zinc finger, matrin-type 1 0 nucleus zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 22 CTCATAATGTGAAATTCTTTG 0.343000 16 2 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 70871596 70871596 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr16:70871596C>T ENST00000393567.2 - 77 13389 c.13239G>A c.(13237-13239)atG>atA p.M4413I NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 4413 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) CTGTTACCTTCATTTTGGTAC 0.488000 21 37 0 0 1 0 0 PLEKHH2 130271 broad.mit.edu 37 2 43871859 43871859 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:43871859G>A ENST00000282406.4 + 2 157 c.47G>A c.(46-48)cGa>cAa p.R16Q NM_172069.3 NP_742066.2 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 16 cytoplasm|cytoskeleton|integral to membrane binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) TGGAAGGAACGATGTGTAGCT 0.358000 7 7 0 0 1 0 0 INHBE 83729 broad.mit.edu 37 12 57850021 57850021 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:57850021G>A ENST00000266646.2 + 2 659 c.443G>A c.(442-444)aGg>aAg p.R148K INHBE_ENST00000551553.1_3'UTR NM_031479.3 NP_113667.1 P58166 INHBE_HUMAN inhibin, beta E 148 growth extracellular region growth factor activity|hormone activity breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2) 15 TGGGGACCAAGGAGGAGGCGC 0.622000 OREG0021944 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 42 131 0 0 1 0 0 CLPB 81570 broad.mit.edu 37 11 72084027 72084027 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:72084027G>A ENST00000294053.3 - 5 851 c.678C>T c.(676-678)atC>atT p.I226I CLPB_ENST00000543042.1_Intron|CLPB_ENST00000437826.2_Silent_p.I181I|CLPB_ENST00000538039.1_Intron|CLPB_ENST00000340729.5_Intron|CLPB_ENST00000445069.2_Silent_p.I122I NM_001258394.1|NM_030813.4 NP_001245323.1|NP_110440.1 Q9H078 CLPB_HUMAN ClpB caseinolytic peptidase B homolog (E. coli) 226 cellular response to heat ATP binding|nucleoside-triphosphatase activity|protein binding endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 19 ACTGGTTTGTGATGTGCCGGC 0.597000 39 44 0 0 1 0 0 ZNF12 7559 broad.mit.edu 37 7 6731140 6731140 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:6731140G>A ENST00000405858.1 - 5 1974 c.1433C>T c.(1432-1434)tCa>tTa p.S478L AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000404360.1_Missense_Mutation_p.S404L|ZNF12_ENST00000342651.5_Missense_Mutation_p.S440L NM_006956.2|NM_016265.3 NP_008887.2|NP_057349.2 P17014 ZNF12_HUMAN zinc finger protein 12 478 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3) 16 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.0231) CATGAGGGCTGAATTCAGGTA 0.398000 28 38 0 0 1 0 0 CACNA1C 775 broad.mit.edu 37 12 2721172 2721172 + Missense_Mutation SNP A A T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:2721172A>T ENST00000399655.1 + 29 4086 c.3821A>T c.(3820-3822)aAa>aTa p.K1274I CACNA1C_ENST00000399595.1_Missense_Mutation_p.K1274I|CACNA1C_ENST00000399634.1_Missense_Mutation_p.K1274I|CACNA1C_ENST00000327702.7_Missense_Mutation_p.K1274I|CACNA1C_ENST00000399606.1_Missense_Mutation_p.K1294I|CACNA1C_ENST00000399637.1_Missense_Mutation_p.K1274I|CACNA1C_ENST00000399591.1_Missense_Mutation_p.K1274I|CACNA1C_ENST00000399621.1_Missense_Mutation_p.K1274I|CACNA1C_ENST00000406454.3_Missense_Mutation_p.K1274I|CACNA1C_ENST00000335762.5_Missense_Mutation_p.K1299I|CACNA1C_ENST00000399601.1_Missense_Mutation_p.K1274I|CACNA1C_ENST00000347598.4_Missense_Mutation_p.K1294I|CACNA1C_ENST00000344100.3_Missense_Mutation_p.K1274I|CACNA1C_ENST00000399603.1_Missense_Mutation_p.K1274I|CACNA1C_ENST00000399649.1_Missense_Mutation_p.K1274I|CACNA1C_ENST00000399597.1_Missense_Mutation_p.K1274I|CACNA1C_ENST00000480911.1_Missense_Mutation_p.K1274I|CACNA1C_ENST00000399638.1_Missense_Mutation_p.K1274I|CACNA1C_ENST00000399629.1_Missense_Mutation_p.K1274I|CACNA1C_ENST00000402845.3_Missense_Mutation_p.K1274I|CACNA1C_ENST00000399617.1_Missense_Mutation_p.K1274I|CACNA1C_ENST00000399641.1_Missense_Mutation_p.K1274I|CACNA1C_ENST00000399644.1_Missense_Mutation_p.K1274I NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 1294 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) ATTGCCTTCAAACCCAAGGTA 0.532000 9 29 0 0 1 0 0 PADI4 23569 broad.mit.edu 37 1 17657611 17657611 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:17657611G>A ENST00000375448.4 + 2 266 c.240G>A c.(238-240)atG>atA p.M80I AC004824.2_ENST00000602074.1_Intron|PADI4_ENST00000375453.1_Missense_Mutation_p.M80I NM_012387.2 NP_036519.2 Q9UM07 PADI4_HUMAN peptidyl arginine deiminase, type IV 80 chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3) 26 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199) L-Citrulline(DB00155) CCCTGACGATGAAAGTGGCCA 0.602000 9 63 0 0 1 0 0 GALNT10 55568 broad.mit.edu 37 5 153766009 153766009 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:153766009C>T ENST00000425427.2 + 7 1212 c.1075C>T c.(1075-1077)Cgc>Tgc p.R359C GALNT10_ENST00000297107.6_Intron|GALNT10_ENST00000377661.2_Intron|GALNT10_ENST00000519544.1_Intron|SAP30L-AS1_ENST00000519727.1_RNA Q86SR1 GLT10_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10) 0 Catalytic subdomain B. Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 32 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21) Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577) GCTCTCCAGACGCCCCGTTCT 0.587000 3 42 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3235257 3235257 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chrX:3235257C>T ENST00000217939.6 - 6 6619 c.6465G>A c.(6463-6465)agG>agA p.R2155R NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 2155 Ig-like C2-type 6. extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) TGACGTCCGTCCTCCGCGGGG 0.701000 18 6 0 0 1 0 0 OR2L3 391192 broad.mit.edu 37 1 248224278 248224278 + Nonsense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:248224278C>T ENST00000359959.3 + 1 295 c.295C>T c.(295-297)Cag>Tag p.Q99* OR2L13_ENST00000366478.2_Intron NM_001004687.1 NP_001004687.1 Q8NG85 OR2L3_HUMAN olfactory receptor, family 2, subfamily L, member 3 99 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1) 41 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) GTGTGGGATTCAGAGTTTCTT 0.433000 115 89 0 0 1 0 0 GALNT8 26290 broad.mit.edu 37 12 4872538 4872538 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:4872538C>T ENST00000252318.2 + 8 1816 c.1479C>T c.(1477-1479)acC>acT p.T493T NM_017417.1 NP_059113.1 Q9NY28 GALT8_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) 493 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 35 CACTCCACACCATCGTGGGCT 0.413000 20 40 0 0 1 0 0 SNX31 169166 broad.mit.edu 37 8 101608869 101608869 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:101608869G>A ENST00000311812.2 - 10 1126 c.976C>T c.(976-978)Ctt>Ttt p.L326F SNX31_ENST00000519521.1_5'UTR|SNX31_ENST00000428383.2_Missense_Mutation_p.L227F NM_152628.3 NP_689841.3 Q8N9S9 SNX31_HUMAN sorting nexin 31 326 cell communication|protein transport phosphatidylinositol binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1) 26 all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206) ATACTCACAAGGAAAGTGACC 0.488000 18 36 0 0 1 0 0 DHX33 56919 broad.mit.edu 37 17 5359380 5359380 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr17:5359380G>A ENST00000433302.3 - 2 468 c.412C>T c.(412-414)Cct>Tct p.P138S DHX33_ENST00000225296.3_Silent_p.V324V Q9H6R0 DHX33_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 33 0 Helicase ATP-binding. nucleolus ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 ACAGAGGAAGGACCAGCATCG 0.602000 18 8 0 0 1 0 0 ZNF831 128611 broad.mit.edu 37 20 57769535 57769535 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr20:57769535C>T ENST00000371030.2 + 1 3461 c.3461C>T c.(3460-3462)tCc>tTc p.S1154F NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1154 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) GCCTTGTCTTCCCACTCAGGG 0.682000 22 138 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113395796 113395796 + Splice_Site SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:113395796C>T ENST00000297405.5 - 37 6275 c.6031_splice c.e37+1 p.G2011_splice CSMD3_ENST00000343508.3_Splice_Site_p.G1971_splice|CSMD3_ENST00000455883.2_Splice_Site_p.G1907_splice|CSMD3_ENST00000352409.3_Splice_Site_p.G1941_splice NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2011 CUB 11. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TCTTATTTACCTGAATAGCTT 0.333000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 13 17 0 0 1 0 0 MTUS2 23281 broad.mit.edu 37 13 30071464 30071464 + Missense_Mutation SNP G G C TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr13:30071464G>C ENST00000431530.3 + 11 3757 c.3699G>C c.(3697-3699)gaG>gaC p.E1233D MTUS2_ENST00000380808.2_Missense_Mutation_p.E202D|MTUS2_ENST00000542829.1_Missense_Mutation_p.E112D|MTUS2_ENST00000400542.3_3'UTR NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 1223 cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 ACACAGAGGAGCAGCTGGAGG 0.622000 13 9 0 0 1 0 0 NRK 203447 broad.mit.edu 37 X 105197109 105197109 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chrX:105197109G>A ENST00000428173.2 + 28 4903 c.4600G>A c.(4600-4602)Gag>Aag p.E1534K NRK_ENST00000243300.9_Missense_Mutation_p.E1533K|NRK_ENST00000540278.1_Missense_Mutation_p.E114K Q7Z2Y5 NRK_HUMAN Nik related kinase 1533 CNH. ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2) 76 TCTGGAAAGTGAGCTGAAGCG 0.468000 HNSCC(51;0.14) 7 0 0 0 1 0 0 HAO2 51179 broad.mit.edu 37 1 119929329 119929329 + Nonsense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:119929329C>T ENST00000361035.4 + 6 968 c.685C>T c.(685-687)Cga>Tga p.R229* HAO2_ENST00000325945.3_Nonsense_Mutation_p.R216* NM_001005783.1 NP_001005783.1 Q9NYQ3 HAOX2_HUMAN hydroxyacid oxidase 2 (long chain) 216 FMN hydroxy acid dehydrogenase. fatty acid alpha-oxidation peroxisome (S)-2-hydroxy-acid oxidase activity breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 30 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856) GAGCATAACTCGATTGCCCAT 0.428000 21 65 0 0 1 0 0 ADAM2 2515 broad.mit.edu 37 8 39613338 39613338 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:39613338C>T ENST00000265708.4 - 16 1809 c.1706G>A c.(1705-1707)gGa>gAa p.G569E ADAM2_ENST00000521880.1_Intron|ADAM2_ENST00000379853.2_Missense_Mutation_p.G413E|ADAM2_ENST00000347580.4_Missense_Mutation_p.G550E NM_001464.3 NP_001455.3 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 569 Cys-rich. cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) GCAGAGATGTCCACTTATGTT 0.348000 11 32 0 0 1 0 0 KCNC2 3747 broad.mit.edu 37 12 75436945 75436945 + Silent SNP T T G TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:75436945T>G ENST00000549446.1 - 5 2537 c.1857A>C c.(1855-1857)tcA>tcC p.S619S KCNC2_ENST00000540018.1_Silent_p.S564S|KCNC2_ENST00000350228.2_Intron|RP11-81K13.1_ENST00000550049.1_RNA|KCNC2_ENST00000548513.1_Intron|RP11-81K13.1_ENST00000547040.1_RNA|KCNC2_ENST00000550433.1_Intron|KCNC2_ENST00000298972.1_Intron|KCNC2_ENST00000341669.3_Intron NM_001260497.1|NM_139137.3 NP_001247426.1|NP_631875.1 Q96PR1 KCNC2_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 2 619 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex voltage-gated potassium channel activity breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 54 AGTTGTAGGGTGATGTTACTG 0.443000 11 39 0 0 1 0 0 AR 367 broad.mit.edu 37 X 66905910 66905910 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chrX:66905910G>A ENST00000374690.3 + 3 2351 c.1827G>A c.(1825-1827)agG>agA p.R609R AR_ENST00000396043.2_Silent_p.R77R|AR_ENST00000504326.1_Silent_p.R609R|AR_ENST00000396044.3_Silent_p.R609R|AR_ENST00000513847.1_3'UTR NM_000044.3 NP_000035.2 P10275 ANDR_HUMAN androgen receptor 608 Interaction with HIPK3 (By similarity). cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport cytoplasm|nuclear chromatin|nucleoplasm androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3) 67 all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102) all_lung(315;1.3e-11) Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624) AATTCCGAAGGAAAAATTGTC 0.428000 Androgen Insensitivity Syndrome 29 5 0 0 1 0 0 PTGDR 5729 broad.mit.edu 37 14 52734901 52734901 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr14:52734901C>T ENST00000306051.2 + 1 471 c.369C>T c.(367-369)ctC>ctT p.L123L PTGDR_ENST00000553372.1_Silent_p.L123L NM_000953.2 NP_000944.1 Q13258 PD2R_HUMAN prostaglandin D2 receptor (DP) 123 integral to membrane|plasma membrane prostaglandin D receptor activity|protein binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Breast(41;0.0639)|all_epithelial(31;0.0887) Nedocromil(DB00716) CACTGCAACTCCTGGCCATGG 0.627000 36 130 0 0 1 0 0 KDM5B 10765 broad.mit.edu 37 1 202715047 202715047 + Silent SNP A A G TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:202715047A>G ENST00000367265.3 - 16 3426 c.2262T>C c.(2260-2262)tcT>tcC p.S754S KDM5B_ENST00000367264.2_Silent_p.S790S NM_006618.3 NP_006609.3 Q9UGL1 KDM5B_HUMAN lysine (K)-specific demethylase 5B 754 negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(2)|ovary(2)|skin(1)|urinary_tract(1) 6 ATTCGTTGTAAGATTCTGCTC 0.413000 115 43 0 0 1 0 0 KIAA1524 57650 broad.mit.edu 37 3 108295124 108295124 + Silent SNP A A G TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:108295124A>G ENST00000295746.8 - 8 964 c.888T>C c.(886-888)tcT>tcC p.S296S KIAA1524_ENST00000487834.1_5'UTR|KIAA1524_ENST00000491772.1_Silent_p.S137S NM_020890.2 NP_065941.2 Q8TCG1 CIP2A_HUMAN KIAA1524 296 cytoplasm|integral to membrane protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 ATACCTTTGAAGAGGAATCAG 0.294000 25 40 0 0 1 0 0 ZNRF3 84133 broad.mit.edu 37 22 29446917 29446917 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr22:29446917C>T ENST00000544604.2 + 8 2923 c.2748C>T c.(2746-2748)acC>acT p.T916T ZNRF3_ENST00000406323.3_Silent_p.T816T|ZNRF3_ENST00000402174.1_Silent_p.T816T|ZNRF3_ENST00000332811.4_Silent_p.T816T NM_001206998.1 NP_001193927.1 Q9ULT6 ZNRF3_HUMAN zinc and ring finger 3 916 integral to membrane zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 28 AGTCCAGCACCACTGCCACTG 0.597000 14 6 0 0 1 0 0 ZNF532 55205 broad.mit.edu 37 18 56586314 56586314 + Silent SNP C C T rs146293537 TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr18:56586314C>T ENST00000336078.4 + 4 1571 c.795C>T c.(793-795)tcC>tcT p.S265S ZNF532_ENST00000591230.1_Silent_p.S265S|ZNF532_ENST00000589288.1_Silent_p.S265S|ZNF532_ENST00000591808.1_Silent_p.S265S|ZNF532_ENST00000591083.1_Silent_p.S265S NM_018181.4 NP_060651.2 Q9HCE3 ZN532_HUMAN zinc finger protein 532 265 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1) 52 AGTCGTCCTCCAAGCTCTCGT 0.562000 41 44 0 0 1 0 0 PCDHA5 56143 broad.mit.edu 37 5 140203522 140203522 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:140203522G>A ENST00000529859.1 + 1 2162 c.2162G>A c.(2161-2163)cGg>cAg p.R721Q PCDHA5_ENST00000529619.1_Missense_Mutation_p.R721Q|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.R721Q|PCDHA4_ENST00000530339.1_Intron NM_018908.2 NP_061731.1 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACCGCGCTGCGGTGCTCGGCG 0.667000 25 68 0 0 1 0 0 KCNT2 343450 broad.mit.edu 37 1 196577372 196577372 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:196577372C>T ENST00000367433.5 - 1 169 c.68G>A c.(67-69)gGg>gAg p.G23E KCNT2_ENST00000451324.2_5'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.G23E|KCNT2_ENST00000294725.8_Missense_Mutation_p.G23E Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 23 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity p.G23V(1) NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 TCCTTGGTCCCCTAGCAGCAA 0.507000 20 97 0 0 1 0 0 PCDHGB3 56102 broad.mit.edu 37 5 140750188 140750188 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:140750188C>T ENST00000576222.1 + 1 358 c.227C>T c.(226-228)aCc>aTc p.T76I PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron NM_018924.2|NM_032097.1 NP_061747.1|NP_115268.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAATTCTTTACCGTGAGCCCC 0.512000 79 118 0 0 1 0 0 ADAM21P1 145241 broad.mit.edu 37 14 70713174 70713174 + RNA SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr14:70713174C>T ENST00000530196.1 - 0 1344 NR_003951.1 ATAAAGATTTCCCCCAATCTT 0.458000 37 18 0 0 1 0 0 SUCO 51430 broad.mit.edu 37 1 172501615 172501615 + Translation_Start_Site SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:172501615G>A ENST00000367723.3 + 1 127 c.3G>A c.(1-3)atG>atA p.M1I NM_016227.2 NP_057311.2 SUN domain containing ossification factor CCAATCAGATGAGAGGATTCT 0.498000 23 7 0 0 1 0 0 RP1L1 94137 broad.mit.edu 37 8 10465469 10465469 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:10465469C>T ENST00000382483.3 - 4 6362 c.6139G>A c.(6139-6141)Gat>Aat p.D2047N NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 2047 intracellular signal transduction p.D2047N(1) breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) GGCTGGGCATCCCCTTCTGTC 0.637000 143 231 0 0 1 0 0 PRUNE2 158471 broad.mit.edu 37 9 79326062 79326062 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr9:79326062G>A ENST00000428286.1 - 8 1251 c.51C>T c.(49-51)gcC>gcT p.A17A PRUNE2_ENST00000376718.3_Silent_p.A376A Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 376 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 GGGAGAGGGGGGCACTGCCTG 0.517000 9 4 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9065502 9065502 + Missense_Mutation SNP G G T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:9065502G>T ENST00000397910.4 - 3 22147 c.21944C>A c.(21943-21945)tCc>tAc p.S7315Y NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7317 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CAGGATGGGGGAAGTAGGGAA 0.448000 11 25 4.68919e-08 4.7181e-08 1 1 0 MTHFD2L 441024 broad.mit.edu 37 4 75091054 75091054 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr4:75091054C>T ENST00000395759.2 + 6 775 c.748C>T c.(748-750)Ccc>Tcc p.P250S MTHFD2L_ENST00000325278.6_Missense_Mutation_p.P192S|MTHFD2L_ENST00000433372.1_Missense_Mutation_p.P115S|MTHFD2L_ENST00000331145.6_Missense_Mutation_p.P192S NM_001144978.1 NP_001138450.1 Q9H903 MTD2L_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like 192 folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2) 8 all cancers(17;0.0101)|Lung(101;0.196) CAGATACACCCCCAAAGAGCA 0.368000 15 72 0 0 1 0 0 ZNF425 155054 broad.mit.edu 37 7 148801719 148801719 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:148801719G>A ENST00000378061.2 - 4 1376 c.1244C>T c.(1243-1245)tCg>tTg p.S415L NM_001001661.2 NP_001001661.1 Q6IV72 ZN425_HUMAN zinc finger protein 425 415 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 50 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) CTCGGGACACGAAAAGGGCTT 0.532000 26 112 0 0 1 0 0 SLIT3 6586 broad.mit.edu 37 5 168620520 168620520 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:168620520C>T ENST00000519560.1 - 4 795 c.376G>A c.(376-378)Gaa>Aaa p.E126K SLIT3_ENST00000521130.1_5'UTR|SLIT3_ENST00000332966.8_Missense_Mutation_p.E126K|SLIT3_ENST00000404867.3_Missense_Mutation_p.E126K NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 126 apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AAAAGCAATTCTGGAAGGACT 0.478000 25 37 0 0 1 0 0 PDZRN4 29951 broad.mit.edu 37 12 41961618 41961618 + Nonsense_Mutation SNP G G T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:41961618G>T ENST00000298919.7 + 9 1109 c.721G>T c.(721-723)Gaa>Taa p.E241* PDZRN4_ENST00000402685.2_Nonsense_Mutation_p.E501*|PDZRN4_ENST00000539469.2_Nonsense_Mutation_p.E243* Q6ZMN7 PZRN4_HUMAN PDZ domain containing ring finger 4 501 PDZ 1. ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 77 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) TGAAAGGAATGAATTCTTAGA 0.393000 14 37 3.27435e-08 3.29599e-08 1 1 0 PROL1 58503 broad.mit.edu 37 4 71265043 71265043 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr4:71265043C>T ENST00000399575.2 + 2 215 c.41C>T c.(40-42)tCa>tTa p.S14L PROL1_ENST00000514338.1_3'UTR NM_021225.4 NP_067048.4 Q99935 PROL1_HUMAN proline rich, lacrimal 1 14 regulation of sensory perception of pain extracellular region endopeptidase inhibitor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3) 15 all_hematologic(202;0.196) GCTCTTATTTCATGTTTCACA 0.318000 11 9 0 0 1 0 0 OR10K1 391109 broad.mit.edu 37 1 158435404 158435404 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:158435404C>T ENST00000289451.2 + 1 133 c.53C>T c.(52-54)tCa>tTa p.S18L NM_001004473.1 NP_001004473.1 Q8NGX5 O10K1_HUMAN olfactory receptor, family 10, subfamily K, member 1 18 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) CTCGGCTTCTCATCCCTGGCC 0.512000 11 71 0 0 1 0 0 ARPP21 10777 broad.mit.edu 37 3 35833953 35833953 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:35833953G>A ENST00000187397.4 + 19 2568 c.2112G>A c.(2110-2112)gtG>gtA p.V704V ARPP21_ENST00000417925.1_Silent_p.V705V|ARPP21_ENST00000476052.1_3'UTR|ARPP21_ENST00000444190.1_Silent_p.V685V|ARPP21_ENST00000337271.5_Silent_p.V685V|ARPP21_ENST00000458225.1_Silent_p.V705V NM_016300.4 NP_057384.2 Q9UBL0 ARP21_HUMAN cAMP-regulated phosphoprotein, 21kDa 704 Gln-rich. cytoplasm nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 GTCAGAACGTGATAAATAACC 0.468000 63 68 0 0 1 0 0 ACCS 84680 broad.mit.edu 37 11 44105063 44105063 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:44105063C>T ENST00000263776.8 + 14 1778 c.1344C>T c.(1342-1344)ttC>ttT p.F448F NM_001127219.1|NM_032592.3 NP_001120691.1|NP_115981.1 Q96QU6 1A1L1_HUMAN 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional) 448 1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1) 35 GCAAGGCCTTCGAGTGTAAAG 0.572000 22 37 0 0 1 0 0 RPGRIP1L 23322 broad.mit.edu 37 16 53674976 53674976 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr16:53674976G>A ENST00000262135.4 - 19 3020 c.2927C>T c.(2926-2928)tCt>tTt p.S976F RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.S976F|RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.S976F|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.S976F NM_001127897.1 NP_001121369.1 Q68CZ1 FTM_HUMAN RPGRIP1-like 976 negative regulation of G-protein coupled receptor protein signaling pathway cell-cell junction|centrosome|cilium axoneme|microtubule basal body thromboxane A2 receptor binding endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2) 46 all_cancers(37;0.0973) ATCCACGAAAGATACCTTCTT 0.343000 7 18 0 0 1 0 0 KIAA1549L 25758 broad.mit.edu 37 11 33631484 33631484 + Missense_Mutation SNP T T C TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:33631484T>C ENST00000321505.4 + 14 4540 c.4360T>C c.(4360-4362)Tgt>Cgt p.C1454R KIAA1549L_ENST00000389726.3_Missense_Mutation_p.C1460R KIAA1549-like TTCAGAACTCTGTGCTCCATT 0.483000 32 39 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90052934 90052934 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:90052934G>A ENST00000405460.2 + 57 11992 c.11896G>A c.(11896-11898)Gac>Aac p.D3966N NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 3966 Calx-beta 26. cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TGGCCTGGAAGACTTTAAACC 0.428000 11 19 0 0 1 0 0 OR52E8 390079 broad.mit.edu 37 11 5878393 5878393 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:5878393G>A ENST00000537935.1 - 1 571 c.540C>T c.(538-540)atC>atT p.I180I TRIM5_ENST00000380027.1_Intron NM_001005168.1 NP_001005168.1 Q6IFG1 O52E8_HUMAN olfactory receptor, family 52, subfamily E, member 8 180 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 20 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114) Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AAGTATGAGGGATGATACGAT 0.507000 46 66 0 0 1 0 0 OR52M1 119772 broad.mit.edu 37 11 4567189 4567189 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:4567189C>T ENST00000360213.1 + 1 769 c.769C>T c.(769-771)Ccc>Tcc p.P257S NM_001004137.1 NP_001004137.1 Q8NGK5 O52M1_HUMAN olfactory receptor, family 52, subfamily M, member 1 257 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) CTTTTATGTTCCCATTGCTGT 0.517000 34 54 0 0 1 0 0 NAT10 55226 broad.mit.edu 37 11 34133673 34133673 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:34133673C>T ENST00000257829.3 + 4 481 c.275C>T c.(274-276)cCc>cTc p.P92L NAT10_ENST00000531159.2_Missense_Mutation_p.P20L|NAT10_ENST00000527971.1_Missense_Mutation_p.P92L NM_024662.2 NP_078938.2 Q9H0A0 NAT10_HUMAN N-acetyltransferase 10 (GCN5-related) 92 nucleolus ATP binding|N-acetyltransferase activity|protein binding endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231) CAGGACGACCCCTTTGAACTC 0.483000 17 31 0 0 1 0 0 CALCR 799 broad.mit.edu 37 7 93108737 93108737 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:93108737C>T ENST00000359558.2 - 5 487 c.188G>A c.(187-189)cGa>cAa p.R63Q CALCR_ENST00000360249.4_Missense_Mutation_p.R45Q|CALCR_ENST00000421592.1_Missense_Mutation_p.R45Q|CALCR_ENST00000394441.1_Missense_Mutation_p.R45Q|CALCR_ENST00000426151.1_Missense_Mutation_p.R45Q NM_001164737.1 NP_001158209.1 P30988 CALCR_HUMAN calcitonin receptor 45 activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus integral to plasma membrane calcitonin binding|calcitonin receptor activity|protein binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3) 45 all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207) STAD - Stomach adenocarcinoma(171;0.000244) Salmon Calcitonin(DB00017) CATCTTCTTTCGTCCTACGAC 0.403000 54 93 0 0 1 0 0 CR1L 1379 broad.mit.edu 37 1 207850845 207850845 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:207850845C>T ENST00000508064.2 + 2 269 c.209C>T c.(208-210)tCc>tTc p.S70F CR1L_ENST00000530905.1_3'UTR NM_175710.1 NP_783641.1 Q2VPA4 CR1L_HUMAN complement component (3b/4b) receptor 1-like 70 Sushi 1. cytoplasm|extracellular region|membrane endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 CCTGGTTATTCCGGAAGACCG 0.473000 20 157 0 0 1 0 0 SEPT14 346288 broad.mit.edu 37 7 55863771 55863771 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:55863771G>A ENST00000388975.3 - 10 1250 c.1134C>T c.(1132-1134)ttC>ttT p.F378F NM_207366.2 NP_997249.2 Q6ZU15 SEP14_HUMAN septin 14 378 cell cycle|cell division septin complex GTP binding|protein binding p.F378F(1)|p.F167F(1) haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2) 23 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) TAAGATGCTCGAACTTGTCCT 0.378000 7 19 0 0 1 0 0 ENAM 10117 broad.mit.edu 37 4 71500280 71500280 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr4:71500280C>T ENST00000396073.3 + 6 747 c.466C>T c.(466-468)Cct>Tct p.P156S NM_031889.2 NP_114095.2 Q9NRM1 ENAM_HUMAN enamelin 156 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) AGCTCAACCCCCTCAGGTGAG 0.493000 25 19 0 0 1 0 0 ACTG1P17 283693 broad.mit.edu 37 15 83395674 83395674 + RNA SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr15:83395674G>A ENST00000560958.1 - 0 612 NR_036446.1 GACTGGGAGAGGGTGGCTGTA 0.617000 3 1 0 0 1 0 0 TCIRG1 10312 broad.mit.edu 37 11 67809240 67809240 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:67809240C>T ENST00000265686.3 + 3 246 c.138C>T c.(136-138)gcC>gcT p.A46A NM_006019.3 NP_006010.2 Q13488 VPP3_HUMAN T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 46 ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain hydrogen ion transmembrane transporter activity breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1) 16 CGGTGAGCGCCTTCCAGAGAC 0.622000 8 11 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110460509 110460509 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:110460509C>T ENST00000378402.5 + 39 6018 c.5914C>T c.(5914-5916)Cat>Tat p.H1972Y NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 1972 IPT/TIG 12. immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) CGTGGGAGATCATGCTGGGGG 0.408000 HNSCC(38;0.096) 11 11 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25231979 25231979 + RNA SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr15:25231979G>A ENST00000551631.2 + 0 887 SNHG14_ENST00000551361.1_RNA NR_001293.1 ATCTCTGGAAGAGATGACACg 0.483000 9 9 0 0 1 0 0 AOC3 8639 broad.mit.edu 37 17 41004743 41004743 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr17:41004743C>T ENST00000308423.2 + 1 1543 c.1383C>T c.(1381-1383)gtC>gtT p.V461V NM_003734.2 NP_003725.1 Q16853 AOC3_HUMAN amine oxidase, copper containing 3 461 amine metabolic process|cell adhesion|inflammatory response cell surface|integral to membrane|plasma membrane aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8) 41 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.156) Hydralazine(DB01275)|Phenelzine(DB00780) CGGTGCTGGTCGTCAGATCTA 0.537000 26 54 0 0 1 0 0 GPHN 10243 broad.mit.edu 37 14 67567593 67567593 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr14:67567593C>T ENST00000478722.1 + 13 2379 c.1258C>T c.(1258-1260)Cgt>Tgt p.R420C GPHN_ENST00000543237.1_Missense_Mutation_p.R433C|GPHN_ENST00000305960.9_Missense_Mutation_p.R356C|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000315266.5_Missense_Mutation_p.R387C NM_020806.4 NP_065857.1 Q9NQX3 GEPH_HUMAN gephyrin 387 MPT adenylyltransferase. Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cell junction|cytoplasm|cytoskeleton|postsynaptic membrane ATP binding|metal ion binding|nucleotidyltransferase activity large_intestine(8)|liver(1)|ovary(2)|stomach(1) 12 all_cancers(7;0.0476)|all_hematologic(31;0.0116) Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184) CCCAGGAGATCGTTTCATCAT 0.448000 T MLL AL 20 6 0 0 1 0 0 SERPINB3 6317 broad.mit.edu 37 18 61326681 61326681 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr18:61326681C>T ENST00000283752.5 - 4 446 c.303G>A c.(301-303)ctG>ctA p.L101L SERPINB3_ENST00000332821.8_Silent_p.L101L|SERPINB11_ENST00000489748.1_RNA NM_006919.2 NP_008850.1 P29508 SPB3_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 3 101 regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 36 TGGCGATCTTCAGCTCATATG 0.393000 42 66 0 0 1 0 0 ACOXL 55289 broad.mit.edu 37 2 111551725 111551725 + Missense_Mutation SNP G G A rs150003283 by1000genomes TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:111551725G>A ENST00000389811.4 + 5 543 c.319G>A c.(319-321)Gaa>Aaa p.E107K ACOXL_ENST00000439055.1_Missense_Mutation_p.E107K|ACOXL_ENST00000340561.4_Missense_Mutation_p.E107K Q9NUZ1 ACOXL_HUMAN acyl-CoA oxidase-like 107 fatty acid beta-oxidation peroxisome acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1) 21 GATCCAGACCGAAGCCACCTT 0.537000 28 38 0 0 1 0 0 POU2AF1 5450 broad.mit.edu 37 11 111228321 111228321 + Nonsense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:111228321C>T ENST00000393067.3 - 4 819 c.305G>A c.(304-306)tGg>tAg p.W102* NM_006235.2 NP_006226.2 Q16633 OBF1_HUMAN POU class 2 associating factor 1 102 humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity breast(1)|kidney(2)|lung(2) 5 all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389) Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364) GTAAGGTGTCCATGGGGCCAG 0.642000 T BCL6 NHL 20 31 0 0 1 0 0 KRT79 338785 broad.mit.edu 37 12 53228033 53228033 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:53228033G>A ENST00000330553.5 - 1 46 c.12C>T c.(10-12)tcC>tcT p.S4S NM_175834.2 NP_787028.1 Q5XKE5 K2C79_HUMAN keratin 79 4 Head. keratin filament structural molecule activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 GCCGAGAGACGGAGGACCTCA 0.617000 9 22 0 0 1 0 0 TMED8 283578 broad.mit.edu 37 14 77809809 77809809 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr14:77809809C>T ENST00000216468.7 - 5 527 c.472G>A c.(472-474)Gct>Act p.A158T NM_213601.1 NP_998766.1 Q6PL24 TMED8_HUMAN transmembrane emp24 protein transport domain containing 8 158 transport integral to membrane breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4) 15 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0281) CATGGAGGAGCCATCAGAGGT 0.527000 7 5 0 0 1 0 0 CATSPERD 257062 broad.mit.edu 37 19 5733876 5733876 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:5733876C>T ENST00000381624.3 + 5 347 c.286C>T c.(286-288)Cca>Tca p.P96S CATSPERD_ENST00000381614.2_5'UTR NM_152784.3 NP_689997.3 Q86XM0 TM146_HUMAN catsper channel auxiliary subunit delta 96 integral to membrane GGTCGGCGTACCAGAAGTGAC 0.343000 7 23 0 0 1 0 0 RGPD4 285190 broad.mit.edu 37 2 108496528 108496528 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:108496528G>A ENST00000408999.3 + 21 5106 c.5029G>A c.(5029-5031)Gag>Aag p.E1677K RGPD4_ENST00000354986.4_Missense_Mutation_p.E1677K NM_182588.2 NP_872394.2 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 1677 intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 TCGGGAAGCAGAGGCAACCAG 0.453000 31 140 0 0 1 0 0 TCEB3B 51224 broad.mit.edu 37 18 44559838 44559838 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr18:44559838C>T ENST00000332567.4 - 1 2150 c.1798G>A c.(1798-1800)Gaa>Aaa p.E600K KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron NM_016427.2 NP_057511.2 Q8IYF1 ELOA2_HUMAN transcription elongation factor B polypeptide 3B (elongin A2) 600 Activation domain (By similarity). regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 GTTTTGTTTTCCTGTGGCTTT 0.493000 33 59 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41414557 41414557 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr21:41414557G>A ENST00000400454.1 - 32 5904 c.5427C>T c.(5425-5427)tcC>tcT p.S1809S NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1809 cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) CTTCGTAAGTGGAGGAGGCAC 0.512000 24 43 0 0 1 0 0 ZNF768 79724 broad.mit.edu 37 16 30536228 30536228 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr16:30536228G>A ENST00000380412.5 - 2 1408 c.1233C>T c.(1231-1233)tcC>tcT p.S411S ZNF768_ENST00000562803.1_Silent_p.S380S NM_024671.3 NP_078947.3 Q9H5H4 ZN768_HUMAN zinc finger protein 768 411 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1) 15 CCGACCGCTGGGAGAAGCTCT 0.657000 13 47 0 0 1 0 0 C10orf71 118461 broad.mit.edu 37 10 50531036 50531036 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr10:50531036C>T ENST00000374144.3 + 3 734 c.446C>T c.(445-447)tCt>tTt p.S149F C10orf71_ENST00000323868.4_Missense_Mutation_p.S149F Q711Q0 CJ071_HUMAN chromosome 10 open reading frame 71 149 endometrium(1) 1 CTAATTAAATCTTTCGACAGG 0.537000 30 13 0 0 1 0 0 SLC9A2 6549 broad.mit.edu 37 2 103274201 103274201 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:103274201C>T ENST00000233969.2 + 2 610 c.468C>T c.(466-468)ttC>ttT p.F156F NM_003048.3 NP_003039.2 Q9UBY0 SL9A2_HUMAN solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2 156 integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 CCGGCTATTTCATGCCCACTC 0.468000 93 146 0 0 1 0 0 TSHZ1 10194 broad.mit.edu 37 18 72999232 72999232 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr18:72999232C>T ENST00000322038.5 + 2 2319 c.1735C>T c.(1735-1737)Cca>Tca p.P579S TSHZ1_ENST00000580243.1_Missense_Mutation_p.P624S NM_005786.5 NP_005777.3 Q6ZSZ6 TSH1_HUMAN teashirt zinc finger homeobox 1 624 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2) 42 Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211) Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246) CCTGCACTCCCCAGGGAGCCT 0.657000 27 35 0 0 1 0 0 BTN2A3P 54718 broad.mit.edu 37 6 26422353 26422353 + RNA SNP C C T rs141013110 TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:26422353C>T ENST00000466808.2 + 0 7 p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 4 126 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176680981 176680981 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:176680981C>T ENST00000367662.3 + 12 4826 c.3662C>T c.(3661-3663)tCa>tTa p.S1221L NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1221 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 ATTTGCACATCATACCATCCA 0.423000 11 83 0 0 1 0 0 SDK1 221935 broad.mit.edu 37 7 3861160 3861160 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:3861160G>A ENST00000404826.2 + 5 931 c.792G>A c.(790-792)gtG>gtA p.V264V SDK1_ENST00000389531.3_Silent_p.V264V NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 264 Ig-like C2-type 2. 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) TGCAGGCCGTGAATGAGAAAA 0.443000 30 57 0 0 1 0 0 KRT77 374454 broad.mit.edu 37 12 53086390 53086390 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:53086390C>T ENST00000341809.3 - 7 1270 c.1242G>A c.(1240-1242)gaG>gaA p.E414E RP11-641A6.3_ENST00000547533.1_RNA|KRT77_ENST00000537195.1_Silent_p.E181E NM_175078.2 NP_778253.2 Q7Z794 K2C1B_HUMAN keratin 77 414 Coil 2.|Rod. keratin filament structural molecule activity NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 25 CGCCTCTCTCCTCAGCATCCG 0.582000 30 27 0 0 1 0 0 OR5H2 79310 broad.mit.edu 37 3 98002054 98002054 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:98002054C>T ENST00000355273.2 + 1 323 c.323C>T c.(322-324)tCc>tTc p.S108F RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005482.1 NP_001005482.1 Q8NGV7 OR5H2_HUMAN olfactory receptor, family 5, subfamily H, member 2 108 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1) 24 CAATTTTTTTCCTTTGCATTT 0.368000 39 62 0 0 1 0 0 PTPRT 11122 broad.mit.edu 37 20 41076952 41076952 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr20:41076952G>A ENST00000373198.3 - 9 1703 c.1468C>T c.(1468-1470)Cta>Tta p.L490L PTPRT_ENST00000373201.1_Silent_p.L490L|PTPRT_ENST00000373187.1_Silent_p.L490L|PTPRT_ENST00000373193.3_Silent_p.L490L|PTPRT_ENST00000373184.1_Silent_p.L490L|PTPRT_ENST00000373190.1_Silent_p.L490L|PTPRT_ENST00000356100.2_Silent_p.L490L NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 490 Fibronectin type-III 3. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) ATGGATTCTAGAGGAACAGCT 0.498000 55 87 0 0 1 0 0 TNRC18 84629 broad.mit.edu 37 7 5410512 5410512 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:5410512G>A ENST00000399537.4 - 11 4061 c.3713C>T c.(3712-3714)cCc>cTc p.P1238L TNRC18_ENST00000430969.1_Missense_Mutation_p.P1238L O15417 TNC18_HUMAN trinucleotide repeat containing 18 1238 DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8) 11 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) GGCGGTGCAGGGTTCTGTCCG 0.697000 16 30 0 0 1 0 0 TENM2 57451 broad.mit.edu 37 5 167589702 167589702 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:167589702G>A ENST00000519204.1 + 12 2264 c.2146G>A c.(2146-2148)Ggg>Agg p.G716R TENM2_ENST00000545108.1_Missense_Mutation_p.G837R|TENM2_ENST00000518659.1_Missense_Mutation_p.G837R|TENM2_ENST00000403607.2_Missense_Mutation_p.G661R|CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000520394.1_Missense_Mutation_p.G605R teneurin transmembrane protein 2 CGGCTGGAGAGGGCCCGGATG 0.557000 20 27 0 0 1 0 0 ADAMTSL3 57188 broad.mit.edu 37 15 84611351 84611351 + Nonsense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr15:84611351G>A ENST00000286744.5 + 18 2345 c.2121G>A c.(2119-2121)tgG>tgA p.W707* ADAMTSL3_ENST00000567476.1_Nonsense_Mutation_p.W707* NM_207517.2 NP_997400.2 P82987 ATL3_HUMAN ADAMTS-like 3 707 TSP type-1 5. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 130 BRCA - Breast invasive adenocarcinoma(143;0.211) GTTTTAGGTGGCATGTGGGCT 0.547000 24 22 0 0 1 0 0 TBX15 6913 broad.mit.edu 37 1 119427417 119427417 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:119427417C>T ENST00000369429.3 - 8 1756 c.1747G>A c.(1747-1749)Gat>Aat p.D583N TBX15_ENST00000207157.3_Missense_Mutation_p.D477N Q96SF7 TBX15_HUMAN T-box 15 583 nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5) 37 all_neural(166;0.117) all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237) Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141) TGCCGGCCATCACAAGTGTTG 0.557000 79 36 0 0 1 0 0 CRYGA 1418 broad.mit.edu 37 2 209025690 209025690 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:209025690G>A ENST00000304502.4 - 3 382 c.363C>T c.(361-363)atC>atT p.I121I NM_014617.3 NP_055432.2 crystallin, gamma A endometrium(1)|kidney(3)|large_intestine(1)|lung(7) 12 Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135) GGAGGGAATAGATCTCAGGGA 0.552000 42 70 0 0 1 0 0 CHD7 55636 broad.mit.edu 37 8 61765652 61765652 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:61765652C>T ENST00000423902.2 + 31 6847 c.6368C>T c.(6367-6369)tCc>tTc p.S2123F CHD7_ENST00000524602.1_Intron NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 2123 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) CCTGAGTTATCCTTCTTGGAT 0.502000 17 17 0 0 1 0 0 LCT 3938 broad.mit.edu 37 2 136570043 136570043 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:136570043C>T ENST00000264162.2 - 7 2201 c.2191G>A c.(2191-2193)Ggg>Agg p.G731R NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 731 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) CTCCTTATCCCCCAGGGCACC 0.512000 33 58 0 0 1 0 0 OR13H1 347468 broad.mit.edu 37 X 130678411 130678411 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chrX:130678411C>T ENST00000338616.3 + 1 462 c.364C>T c.(364-366)Cgt>Tgt p.R122C NM_001004486.1 NP_001004486.1 Q8NG92 O13H1_HUMAN olfactory receptor, family 13, subfamily H, member 1 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1) 15 Acute lymphoblastic leukemia(192;0.000636) GGCCTATGACCGTGTGGTTGC 0.532000 63 10 0 0 1 0 0 C1S 716 broad.mit.edu 37 12 7172536 7172536 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:7172536C>T ENST00000406697.1 + 9 1278 c.650C>T c.(649-651)aCc>aTc p.T217I C1S_ENST00000328916.3_Missense_Mutation_p.T217I|C1S_ENST00000360817.5_Missense_Mutation_p.T217I|C1S_ENST00000402681.3_Missense_Mutation_p.T50I P09871 C1S_HUMAN complement component 1, s subcomponent 217 CUB 2. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072) GTGGTGGTGACCTTGCGGAGA 0.473000 21 56 0 0 1 0 0 INMT 11185 broad.mit.edu 37 7 30795280 30795280 + Missense_Mutation SNP C C T rs147878270 byFrequency TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:30795280C>T ENST00000013222.5 + 3 621 c.605C>T c.(604-606)cCg>cTg p.P202L INMT-FAM188B_ENST00000458257.1_Intron|INMT_ENST00000409539.1_Missense_Mutation_p.P201L|INMT_ENST00000484180.1_3'UTR NM_001199219.1|NM_006774.4 NP_001186148.1|NP_006765.4 O95050 INMT_HUMAN indolethylamine N-methyltransferase 202 cytoplasm amine N-methyltransferase activity kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1) 23 CTTCGGCTCCCGTCCTACATG 0.607000 34 47 0 0 1 0 0 AGK 55750 broad.mit.edu 37 7 141296383 141296383 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:141296383C>T ENST00000355413.4 + 4 423 c.163C>T c.(163-165)Cct>Tct p.P55S AGK_ENST00000535825.1_Missense_Mutation_p.P55S|AGK_ENST00000495028.1_3'UTR|AGK_ENST00000473247.1_Missense_Mutation_p.P27S NM_018238.3 NP_060708.1 Q53H12 AGK_HUMAN acylglycerol kinase 55 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway mitochondrial membrane acylglycerol kinase activity|ATP binding|diacylglycerol kinase activity|NAD+ kinase activity breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3) 17 Melanoma(164;0.0171) TCAACTCATTCCTCCCAATGC 0.358000 39 42 0 0 1 0 0 GHR 2690 broad.mit.edu 37 5 42695177 42695177 + Missense_Mutation SNP C C T rs45501892 TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:42695177C>T ENST00000230882.4 + 5 615 c.425C>T c.(424-426)tCt>tTt p.S142F GHR_ENST00000357703.3_Missense_Mutation_p.S120F|GHR_ENST00000537449.1_5'UTR NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2 NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1 P10912 GHR_HUMAN growth hormone receptor 142 2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) AAGTGTTTCTCTGTTGATGAA 0.358000 11 36 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34090197 34090197 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:34090197G>A ENST00000373381.4 - 35 5723 c.5547C>T c.(5545-5547)tcC>tcT p.S1849S CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373377.1_5'UTR|CSMD2_ENST00000373380.1_Silent_p.S722S NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1809 CUB 11. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GGAAGCCAGGGGACAGGATGG 0.657000 21 134 0 0 1 0 0 HACL1 26061 broad.mit.edu 37 3 15621479 15621479 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:15621479G>A ENST00000321169.5 - 9 1108 c.741C>T c.(739-741)acC>acT p.T247T HACL1_ENST00000457447.2_Silent_p.T221T|HACL1_ENST00000435217.2_Intron|HACL1_ENST00000456194.2_Silent_p.T220T|HACL1_ENST00000451445.2_Silent_p.T165T NM_012260.2 NP_036392.2 Q9UJ83 HACL1_HUMAN 2-hydroxyacyl-CoA lyase 1 247 fatty acid alpha-oxidation peroxisomal matrix carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1) 16 TCCCCATAGGGGTGGGCAAAA 0.448000 32 43 0 0 1 0 0 TAS2R60 338398 broad.mit.edu 37 7 143140806 143140806 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:143140806C>T ENST00000332690.1 + 1 261 c.261C>T c.(259-261)ttC>ttT p.F87F EPHA1-AS1_ENST00000429289.1_RNA NM_177437.1 NP_803186.1 P59551 T2R60_HUMAN taste receptor, type 2, member 60 87 sensory perception of bitter taste integral to membrane G-protein coupled receptor activity breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2) 31 Melanoma(164;0.172) CGATGGCCTTCCCATACAACC 0.478000 26 83 0 0 1 0 0 SQRDL 58472 broad.mit.edu 37 15 45965857 45965857 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr15:45965857C>T ENST00000260324.7 + 5 898 c.512C>T c.(511-513)tCa>tTa p.S171L SQRDL_ENST00000568606.1_Missense_Mutation_p.S171L|RP11-96O20.4_ENST00000564080.1_Missense_Mutation_p.S171L NM_021199.2 NP_067022.1 Q9Y6N5 SQRD_HUMAN sulfide quinone reductase-like (yeast) 171 oxidoreductase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2) 11 Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417) all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188) TCGAATTATTCAGTTAAGACT 0.413000 29 76 0 0 1 0 0 SIGLEC10 89790 broad.mit.edu 37 19 51918442 51918442 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:51918442G>A ENST00000353836.5 - 7 1544 c.1323C>T c.(1321-1323)tcC>tcT p.S441S SIGLEC10_ENST00000356298.5_Silent_p.S441S|SIGLEC10_ENST00000432469.2_Silent_p.S358S|SIGLEC10_ENST00000339313.5_Silent_p.S441S|SIGLEC10_ENST00000442846.3_Silent_p.S293S|SIGLEC10_ENST00000525998.1_Silent_p.S351S|SIGLEC10_ENST00000439889.2_Silent_p.S383S|SIGLEC10_ENST00000436984.2_Silent_p.S393S|SIGLEC10_ENST00000441969.3_Silent_p.S383S NM_001171157.1|NM_001171158.1|NM_001171159.1 NP_001164628.1|NP_001164629.1|NP_001164630.1 Q96LC7 SIG10_HUMAN sialic acid binding Ig-like lectin 10 441 Ig-like C2-type 3. cell adhesion extracellular region|integral to membrane|plasma membrane sugar binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101) CACAGTGCACGGAGAGGCTGA 0.662000 20 51 0 0 1 0 0 CKAP2L 150468 broad.mit.edu 37 2 113509850 113509850 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:113509850G>A ENST00000541405.1 - 5 1624 c.1101C>T c.(1099-1101)atC>atT p.I367I CKAP2L_ENST00000302450.6_Silent_p.I532I Q8IYA6 CKP2L_HUMAN cytoskeleton associated protein 2-like 532 centrosome breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 28 TTACCCCTTCGATGAGGTTCA 0.368000 57 67 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13788937 13788937 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:13788937C>T ENST00000265104.4 - 51 8639 c.8535G>A c.(8533-8535)aaG>aaA p.K2845K NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2845 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) TTACTAAAGCCTTATCAAACC 0.403000 Kartagener syndrome 28 15 0 0 1 0 0 FARSA 2193 broad.mit.edu 37 19 13035926 13035926 + Nonsense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:13035926G>A ENST00000588025.1 - 9 1164 c.1024C>T c.(1024-1026)Cag>Tag p.Q342* FARSA_ENST00000314606.4_Nonsense_Mutation_p.Q302*|FARSA_ENST00000423140.2_Nonsense_Mutation_p.Q271* Q9Y285 SYFA_HUMAN phenylalanyl-tRNA synthetase, alpha subunit 302 phenylalanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1) 20 L-Phenylalanine(DB00120) TAGCCGCCCTGAGAGTGGGTC 0.627000 6 8 0 0 1 0 0 RAI1 10743 broad.mit.edu 37 17 17701157 17701157 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr17:17701157C>T ENST00000353383.1 + 3 5364 c.4895C>T c.(4894-4896)tCc>tTc p.S1632F RAI1_ENST00000261641.6_Intron NM_030665.3 NP_109590.3 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 1632 Ser-rich. cytoplasm|nucleus zinc ion binding breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7) 48 READ - Rectum adenocarcinoma(1115;0.0276) tcctctgcctcctcttcctca 0.647000 43 30 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 138000072 138000072 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:138000072C>T ENST00000409968.1 + 10 2374 c.2196C>T c.(2194-2196)ctC>ctT p.L732L THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Silent_p.L701L|THSD7B_ENST00000272643.3_Silent_p.L732L thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) CCTGTTTTCTCCCATGCAAAA 0.473000 7 30 0 0 1 0 0 A1CF 29974 broad.mit.edu 37 10 52580390 52580390 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr10:52580390C>T ENST00000395489.2 - 10 1164 c.768G>A c.(766-768)aaG>aaA p.K256K A1CF_ENST00000282641.2_Silent_p.K263K|A1CF_ENST00000373993.1_Silent_p.K263K|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000374001.1_Silent_p.K263K|A1CF_ENST00000395495.1_Silent_p.K208K|A1CF_ENST00000373997.3_Silent_p.K263K|A1CF_ENST00000373995.3_Silent_p.K271K NM_001198819.1 NP_001185748.1 Q9NQ94 A1CF_HUMAN APOBEC1 complementation factor 263 RRM 3. cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3) 29 CTCGAATTTTCTTCACCCTCT 0.383000 23 8 0 0 1 0 0 LPAR3 23566 broad.mit.edu 37 1 85331160 85331160 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:85331160C>T ENST00000440886.1 - 1 682 c.644G>A c.(643-645)aGg>aAg p.R215K LPAR3_ENST00000491034.1_5'UTR|LPAR3_ENST00000370611.3_Missense_Mutation_p.R215K Q9UBY5 LPAR3_HUMAN lysophosphatidic acid receptor 3 215 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane|intracellular membrane-bounded organelle central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1) 24 GTTGGTTTTCCTCTTGACGTA 0.498000 46 23 0 0 1 0 0 LCT 3938 broad.mit.edu 37 2 136567238 136567238 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:136567238G>A ENST00000264162.2 - 8 2689 c.2679C>T c.(2677-2679)ttC>ttT p.F893F NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 893 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) AATCTCTTTCGAACTTGGGTT 0.522000 43 78 0 0 1 0 0 C3orf20 84077 broad.mit.edu 37 3 14803013 14803013 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:14803013C>T ENST00000253697.3 + 15 2838 c.2386C>T c.(2386-2388)Cgt>Tgt p.R796C C3orf20_ENST00000435614.1_Missense_Mutation_p.R674C|C3orf20_ENST00000412910.1_Missense_Mutation_p.R674C NM_032137.4 NP_115513.4 Q8ND61 CC020_HUMAN chromosome 3 open reading frame 20 796 cytoplasm|integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2) 40 TTTTGGGGGCCGTGTTTTGAA 0.498000 17 36 0 0 1 0 0 OR2G3 81469 broad.mit.edu 37 1 247769160 247769160 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:247769160G>A ENST00000320002.2 + 1 305 c.273G>A c.(271-273)acG>acA p.T91T RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA NM_001001914.1 NP_001001914.1 Q8NGZ4 OR2G3_HUMAN olfactory receptor, family 2, subfamily G, member 3 91 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5) 50 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) CAAAGAAGACGATCACTTACG 0.463000 217 82 0 0 1 0 0 CORO6 84940 broad.mit.edu 37 17 27946683 27946683 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr17:27946683C>T ENST00000345068.5 - 3 520 c.307G>A c.(307-309)Gac>Aac p.D103N RP11-68I3.2_ENST00000581474.1_RNA|CORO6_ENST00000584969.1_Missense_Mutation_p.D103N|CORO6_ENST00000577909.1_Intron|CORO6_ENST00000388767.3_Missense_Mutation_p.D103N|CORO6_ENST00000445145.2_Missense_Mutation_p.D103N|CORO6_ENST00000580212.1_Missense_Mutation_p.D103N Q6QEF8 CORO6_HUMAN coronin 6 103 actin cytoskeleton organization actin cytoskeleton actin filament binding breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2) 14 ATGGTGGTGTCGTCTGAGGCA 0.577000 51 73 0 0 1 0 0 TMEM132B 114795 broad.mit.edu 37 12 126139164 126139164 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:126139164G>A ENST00000299308.3 + 9 3153 c.3145G>A c.(3145-3147)Gat>Aat p.D1049N TMEM132B_ENST00000535886.1_Missense_Mutation_p.D561N NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 1049 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) GTTTGACAGCGATGATAACAT 0.498000 12 47 0 0 1 0 0 TAS2R38 5726 broad.mit.edu 37 7 141672710 141672710 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:141672710G>A ENST00000547270.1 - 1 863 c.780C>T c.(778-780)tcC>tcT p.S260S NM_176817.4 NP_789787.4 P59533 T2R38_HUMAN taste receptor, type 2, member 38 260 sensory perception of taste integral to membrane G-protein coupled receptor activity NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1) 21 Melanoma(164;0.0171) AGGCAGCACAGGATGATATCA 0.502000 27 40 0 0 1 0 0 LRTM1 57408 broad.mit.edu 37 3 54958924 54958924 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:54958924G>A ENST00000273286.5 - 2 488 c.326C>T c.(325-327)tCa>tTa p.S109L CACNA2D3_ENST00000474759.1_Intron|CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000490478.1_Intron|LRTM1_ENST00000493075.1_Missense_Mutation_p.S33L|CACNA2D3_ENST00000288197.5_Intron NM_020678.2 NP_065729.1 Q9HBL6 LRTM1_HUMAN leucine-rich repeats and transmembrane domains 1 109 integral to membrane breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4) 21 KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502) GGAAAGGAGTGAATTCTGGGT 0.468000 24 30 0 0 1 0 0 ITIH1 3697 broad.mit.edu 37 3 52825901 52825901 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:52825901G>A ENST00000273283.2 + 22 2734 c.2710G>A c.(2710-2712)Gat>Aat p.D904N ITIH1_ENST00000405128.3_Missense_Mutation_p.D270N|ITIH1_ENST00000542827.1_3'UTR|ITIH1_ENST00000540715.1_Missense_Mutation_p.D762N|ITIH1_ENST00000537050.1_Missense_Mutation_p.D616N NM_002215.3 NP_002206.2 P19827 ITIH1_HUMAN inter-alpha-trypsin inhibitor heavy chain 1 904 Hyaluronan-binding. hyaluronan metabolic process|leukocyte activation extracellular region calcium ion binding|serine-type endopeptidase inhibitor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 52 BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498) TGCCTACACTGATTATATCGT 0.587000 27 30 0 0 1 0 0 DSG2 1829 broad.mit.edu 37 18 29126062 29126062 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr18:29126062G>A ENST00000261590.8 + 15 2922 c.2713G>A c.(2713-2715)Gaa>Aaa p.E905K RP11-75N4.2_ENST00000583706.1_RNA NM_001943.3 NP_001934.2 Q14126 DSG2_HUMAN desmoglein 2 905 cellular component disassembly involved in apoptosis|homophilic cell adhesion desmosome|integral to membrane calcium ion binding p.E905K(1) breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(10;0.0068) AGTAACTCAGGAAATAGTCAC 0.433000 31 51 0 0 1 0 0 PLXNC1 10154 broad.mit.edu 37 12 94562988 94562988 + Silent SNP C C T rs150683869 byFrequency TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:94562988C>T ENST00000258526.4 + 2 1371 c.1122C>T c.(1120-1122)tcC>tcT p.S374S RP11-74K11.2_ENST00000551029.1_RNA|RP11-74K11.2_ENST00000550759.1_RNA NM_005761.2 NP_005752.1 O60486 PLXC1_HUMAN plexin C1 374 Sema. axon guidance|cell adhesion integral to membrane|intracellular|plasma membrane receptor activity|receptor binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 TGATCCATTCCGACCTGACAT 0.423000 8 36 0 0 1 0 0 INTS1 26173 broad.mit.edu 37 7 1535135 1535135 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:1535135G>A ENST00000389470.4 - 14 2149 c.2150C>T c.(2149-2151)gCc>gTc p.A717V INTS1_ENST00000404767.3_Missense_Mutation_p.A589V Q8N201 INT1_HUMAN integrator complex subunit 1 589 snRNA processing integral to membrane|integrator complex|nuclear membrane autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 62 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) CCACCAGACGGCATCCCGCTG 0.627000 11 26 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 94007025 94007025 + Missense_Mutation SNP T T A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr14:94007025T>A ENST00000553484.1 + 13 1526 c.1372T>A c.(1372-1374)Ttc>Atc p.F458I UNC79_ENST00000256339.4_Missense_Mutation_p.F281I|UNC79_ENST00000393151.2_Missense_Mutation_p.F458I|UNC79_ENST00000555664.1_Missense_Mutation_p.F458I Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 458 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 AGAAGCCGAGTTCCATGCTGA 0.488000 39 15 0 0 1 0 0 FTH1P3 2498 broad.mit.edu 37 5 17354459 17354459 + RNA SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:17354459G>A ENST00000511821.1 + 0 318 FTH1P10_ENST00000401830.3_RNA GCTCCAGGTTGATCTGGCGGT 0.562000 14 39 0 0 1 0 0 C8orf34 116328 broad.mit.edu 37 8 69434172 69434172 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:69434172G>A ENST00000337103.4 + 5 2163 c.571G>A c.(571-573)Gaa>Aaa p.E191K C8orf34_ENST00000348340.2_Missense_Mutation_p.E216K|C8orf34_ENST00000349492.3_3'UTR|C8orf34_ENST00000539993.1_Missense_Mutation_p.E216K|C8orf34_ENST00000518698.1_Missense_Mutation_p.E302K Q49A92 CH034_HUMAN chromosome 8 open reading frame 34 216 signal transduction cAMP-dependent protein kinase regulator activity NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 36 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) TGACCAATGGGAAAGTGAAGA 0.418000 18 30 0 0 1 0 0 AADACL2-AS1 101928142 broad.mit.edu 37 3 151501972 151501972 + RNA SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:151501972C>T ENST00000483843.2 - 0 439 RP11-454C18.2_ENST00000475855.1_RNA|RP11-64D22.2_ENST00000483636.1_RNA TGAGGGCAGCCCCTTTGTTGG 0.423000 7 6 0 0 1 0 0 OR10X1 128367 broad.mit.edu 37 1 158548752 158548752 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:158548752G>A ENST00000368150.1 - 1 937 c.938C>T c.(937-939)gCt>gTt p.A313V NM_001004477.1 NP_001004477.1 Q8NGY0 O10X1_HUMAN olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene) 313 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) TCTTCTAAAAGCATTTTTCAT 0.433000 21 134 0 0 1 0 0 HS6ST1 9394 broad.mit.edu 37 2 129026036 129026036 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:129026036G>A ENST00000259241.6 - 2 949 c.936C>T c.(934-936)ttC>ttT p.F312F NM_004807.2 NP_004798.3 O60243 H6ST1_HUMAN heparan sulfate 6-O-sulfotransferase 1 312 heparan sulfate proteoglycan biosynthetic process, enzymatic modification integral to plasma membrane sulfotransferase activity endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1) 15 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.117) AGGGCCGGATGAACTTGAGGT 0.612000 22 14 0 0 1 0 0 PEG3 5178 broad.mit.edu 37 19 57327228 57327228 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:57327228G>A ENST00000326441.9 - 10 2945 c.2582C>T c.(2581-2583)tCc>tTc p.S861F ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.S735F|PEG3_ENST00000598410.1_Missense_Mutation_p.S737F|PEG3_ENST00000423103.2_Missense_Mutation_p.S861F|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000221722.5_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 861 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) ATAAATGGAGGATTCTCCCTT 0.428000 27 25 0 0 1 0 0 PTPN14 5784 broad.mit.edu 37 1 214557039 214557039 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:214557039G>A ENST00000366956.5 - 13 2353 c.2159C>T c.(2158-2160)tCg>tTg p.S720L PTPN14_ENST00000543945.1_3'UTR NM_005401.4 NP_005392.2 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 14 720 lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding p.S720L(1) NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) CTGGGGCACCGATTCTGGAGC 0.622000 50 22 0 0 1 0 0 ASXL3 80816 broad.mit.edu 37 18 31251711 31251711 + Splice_Site SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr18:31251711G>A ENST00000269197.5 + 7 596 c.595_splice c.e7-1 p.G199_splice NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 199 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 CCTTTTTTAGGATCTGAATCT 0.323000 10 12 0 0 1 0 0 TENM1 10178 broad.mit.edu 37 X 123657311 123657311 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chrX:123657311G>A ENST00000422452.2 - 17 2999 c.2936C>T c.(2935-2937)tCc>tTc p.S979F TENM1_ENST00000371130.3_Missense_Mutation_p.S979F NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 GATAAAGTTGGAGATATCGCA 0.493000 51 11 0 0 1 0 0 ATP9A 10079 broad.mit.edu 37 20 50273611 50273611 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr20:50273611C>T ENST00000338821.5 - 14 1636 c.1372G>A c.(1372-1374)Gaa>Aaa p.E458K ATP9A_ENST00000402822.1_Missense_Mutation_p.E337K|ATP9A_ENST00000311637.5_Missense_Mutation_p.E322K NM_006045.1 NP_006036.1 O75110 ATP9A_HUMAN ATPase, class II, type 9A 458 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 TTCACGGCTTCGTGCACGCGG 0.597000 11 60 0 0 1 0 0 ZNF274 10782 broad.mit.edu 37 19 58718128 58718128 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:58718128C>T ENST00000326804.4 + 5 757 c.298C>T c.(298-300)Cct>Tct p.P100S ZNF274_ENST00000424679.2_5'UTR|ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000345813.3_Missense_Mutation_p.P68S NM_133502.1 NP_598009.1 Q96GC6 ZN274_HUMAN zinc finger protein 274 100 viral reproduction centrosome|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1) 21 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215) GGATCCTCTTCCTGCTGAGAG 0.502000 5 7 0 0 1 0 0 IGKV1-17 28937 broad.mit.edu 37 2 89417306 89417306 + RNA SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:89417306C>T ENST00000490686.1 - 0 29 CCCTCATGTCCATGCTGTGTC 0.547000 57 141 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124339333 124339333 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr10:124339333G>A ENST00000338354.3 + 10 1025 c.919G>A c.(919-921)Gag>Aag p.E307K DMBT1_ENST00000344338.3_Missense_Mutation_p.E307K|DMBT1_ENST00000368955.3_Missense_Mutation_p.E307K|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000330163.4_Missense_Mutation_p.E307K|DMBT1_ENST00000368909.3_Missense_Mutation_p.E307K|DMBT1_ENST00000368956.2_Missense_Mutation_p.E307K Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 307 SRCR 2. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) CTCAGGACATGAGTCCTACCT 0.602000 36 77 0 0 1 0 0 BCOR 54880 broad.mit.edu 37 X 39934346 39934346 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chrX:39934346G>A ENST00000342274.4 - 4 615 c.253C>T c.(253-255)Ccg>Tcg p.P85S BCOR_ENST00000378444.4_Missense_Mutation_p.P85S|BCOR_ENST00000378455.4_Missense_Mutation_p.P85S|BCOR_ENST00000397354.3_Missense_Mutation_p.P85S NM_001123383.1 NP_001116855.1 Q6W2J9 BCOR_HUMAN BCL6 corepressor 85 P -> L (in MCOPS2; dbSNP:rs28935183). heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 126 ATGTTTCCCGGGACCCGCAGC 0.587000 """F, N, S, T""" RARA """retinoblastoma, AML, APL(translocation)""" oculo-facio-cardio-dental genetic 17 7 0 0 1 0 0 ACR 49 broad.mit.edu 37 22 51178266 51178266 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr22:51178266C>T ENST00000216139.5 + 3 466 c.426C>T c.(424-426)gaC>gaT p.D142D ACR_ENST00000529621.1_Silent_p.D142D NM_001097.2 NP_001088.2 P10323 ACRO_HUMAN acrosin 142 Peptidase S1. acrosome matrix dispersal|activation of adenylate cyclase activity acrosomal matrix|protein complex amidase activity|copper ion binding|DNA binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1) 7 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247) AGGGAAATGACATTGCCCTCG 0.522000 49 20 0 0 1 0 0 PLBD1 79887 broad.mit.edu 37 12 14688711 14688711 + Silent SNP A A G TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:14688711A>G ENST00000240617.5 - 6 1378 c.726T>C c.(724-726)ctT>ctC p.L242L NM_024829.5 NP_079105.4 Q6P4A8 PLBL1_HUMAN phospholipase B domain containing 1 242 lipid catabolic process extracellular region hydrolase activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 16 AGTGAGCAAAAAGGATGTTCT 0.428000 12 54 0 0 1 0 0 DUSP27 92235 broad.mit.edu 37 1 167097756 167097756 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:167097756G>A ENST00000361200.2 + 6 3554 c.3388G>A c.(3388-3390)Gaa>Aaa p.E1130K DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.E1130K|DUSP27_ENST00000271385.5_Missense_Mutation_p.E1130K Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 1130 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 GGAGGAAGAGGAAGAAATGGA 0.527000 31 15 0 0 1 0 0 GSDMC 56169 broad.mit.edu 37 8 130761728 130761728 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:130761728C>T ENST00000276708.4 - 13 2138 c.1257G>A c.(1255-1257)gaG>gaA p.E419E NM_031415.2 NP_113603.1 Q9BYG8 GSDMC_HUMAN gasdermin C 419 mitochondrion autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 26 GGATCCTCTTCTCCATGGAAC 0.517000 19 25 0 0 1 0 0 FUT2 2524 broad.mit.edu 37 19 49206492 49206492 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:49206492C>T ENST00000425340.2 + 2 396 c.279C>T c.(277-279)gcC>gcT p.A93A FUT2_ENST00000391876.4_Silent_p.A93A NM_000511.5|NM_001097638.2 NP_000502.4|NP_001091107.1 Q10981 FUT2_HUMAN fucosyltransferase 2 (secretor status included) 93 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane galactoside 2-alpha-L-fucosyltransferase activity breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2) 7 all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017) GGCGGCCCGCCTTCATCCCGG 0.647000 10 35 0 0 1 0 0 MTMR7 9108 broad.mit.edu 37 8 17218703 17218703 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:17218703C>T ENST00000180173.5 - 4 425 c.391G>A c.(391-393)Gat>Aat p.D131N MTMR7_ENST00000521857.1_Missense_Mutation_p.D131N NM_004686.4 NP_004677.3 Q9Y216 MTMR7_HUMAN myotubularin related protein 7 131 Myotubularin phosphatase. protein tyrosine phosphatase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 32 Colorectal(111;0.112) TCACTAAGATCGATCAGCACC 0.453000 27 37 0 0 1 0 0 PROKR2 128674 broad.mit.edu 37 20 5294689 5294689 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr20:5294689G>A ENST00000546004.1 - 2 573 c.327C>T c.(325-327)ttC>ttT p.F109F PROKR2_ENST00000217270.3_Silent_p.F109F Q8NFJ6 PKR2_HUMAN prokineticin receptor 2 109 integral to membrane|plasma membrane neuropeptide Y receptor activity p.F109L(1) autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 53 AGTCCATCTCGAAGGGGCAGC 0.592000 HNSCC(71;0.22) 39 39 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75038517 75038517 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:75038517C>T ENST00000326665.5 - 14 3095 c.2877G>A c.(2875-2877)atG>atA p.M959I C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 959 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 CTGTGTCCTCCATGGGTCCTG 0.527000 16 112 0 0 1 0 0 HCRTR2 3062 broad.mit.edu 37 6 55113483 55113483 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:55113483C>T ENST00000370862.3 + 2 606 c.270C>T c.(268-270)aaC>aaT p.N90N NM_001526.3 NP_001517.2 O43614 OX2R_HUMAN hypocretin (orexin) receptor 2 90 feeding behavior integral to plasma membrane neuropeptide receptor activity breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) CGGTAACCAACTACTTCATAG 0.448000 84 56 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92495273 92495273 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:92495273C>T ENST00000298047.6 + 4 3938 c.3921C>T c.(3919-3921)gaC>gaT p.D1307D FAT3_ENST00000409404.2_Silent_p.D1307D|RP11-203F8.1_ENST00000529884.1_RNA|FAT3_ENST00000525166.1_Silent_p.D1157D Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 1307 Cadherin 12. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TCTTTATTGACCCTAAAACTG 0.448000 TCGA Ovarian(4;0.039) 32 47 0 0 1 0 0 KRT86 3892 broad.mit.edu 37 12 52699530 52699530 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:52699530G>A ENST00000293525.5 + 6 1036 c.984G>A c.(982-984)atG>atA p.M328I KRT86_ENST00000544024.1_Missense_Mutation_p.M328I|KRT86_ENST00000423955.2_Missense_Mutation_p.M328I NM_002284.3 NP_002275.1 O43790 KRT86_HUMAN keratin 86 328 Coil 2.|Rod. cytoskeleton organization keratin filament structural molecule activity breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 10 BRCA - Breast invasive adenocarcinoma(357;0.189) TGAACCGCATGATCCAGAGGC 0.592000 25 56 0 0 1 0 0 PEG3 5178 broad.mit.edu 37 19 57335704 57335704 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:57335704C>T ENST00000326441.9 - 4 683 c.320G>A c.(319-321)cGa>cAa p.R107Q ZIM2_ENST00000601070.1_5'UTR|ZIM2_ENST00000599935.1_5'UTR|PEG3_ENST00000593695.1_5'UTR|PEG3_ENST00000594706.1_5'UTR|PEG3_ENST00000598410.1_5'UTR|PEG3_ENST00000423103.2_Missense_Mutation_p.R107Q|ZIM2_ENST00000391708.3_5'UTR|ZIM2_ENST00000593711.1_5'UTR|ZIM2_ENST00000221722.5_5'UTR NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 107 SCAN box. apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R107Q(2) NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) CTTTTTTGCTCGCACCCAAGG 0.542000 33 50 0 0 1 0 0 ATF4P4 100127952 broad.mit.edu 37 11 113660984 113660984 + RNA SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:113660984C>T ENST00000393544.2 + 0 1032 TTGCTGTAACCGACAAAGACA 0.582000 6 21 0 0 1 0 0 OR1D2 4991 broad.mit.edu 37 17 2996169 2996169 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr17:2996169C>T ENST00000331459.1 - 1 121 c.122G>A c.(121-123)gGa>gAa p.G41E NM_002548.2 NP_002539.2 P34982 OR1D2_HUMAN olfactory receptor, family 1, subfamily D, member 2 41 cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity kidney(2)|large_intestine(2)|lung(10)|ovary(1) 15 GAGCACATTTCCCACCACCGT 0.547000 47 27 0 0 1 0 0 PARP8 79668 broad.mit.edu 37 5 50117055 50117055 + Missense_Mutation SNP T T A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:50117055T>A ENST00000281631.5 + 16 1835 c.1677T>A c.(1675-1677)gaT>gaA p.D559E PARP8_ENST00000503750.2_Intron|PARP8_ENST00000505554.1_Missense_Mutation_p.D538E|PARP8_ENST00000505697.2_Missense_Mutation_p.D559E|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000514067.2_Intron|PARP8_ENST00000514342.2_Intron NM_001178056.1|NM_024615.3 NP_001171527.1|NP_078891.2 Q8N3A8 PARP8_HUMAN poly (ADP-ribose) polymerase family, member 8 559 intracellular NAD+ ADP-ribosyltransferase activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Lung NSC(810;0.0305)|Breast(144;0.222) AGGTGGTAGATCTACTAGTAT 0.398000 17 36 0 0 1 0 0 FYB 2533 broad.mit.edu 37 5 39134989 39134989 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:39134989C>T ENST00000351578.6 - 8 1833 c.1643G>A c.(1642-1644)gGa>gAa p.G548E FYB_ENST00000512982.1_Missense_Mutation_p.G548E|FYB_ENST00000515010.1_Missense_Mutation_p.G548E|FYB_ENST00000540520.1_Missense_Mutation_p.G558E|FYB_ENST00000505428.1_Missense_Mutation_p.G548E NM_199335.3 NP_955367.1 O15117 FYB_HUMAN FYN binding protein 548 SH3. cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway cytosol|nucleus protein binding endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1) 45 all_lung(31;0.000343) Epithelial(62;0.235) CAACCATTTTCCTTCTGGGTT 0.418000 29 46 0 0 1 0 0 CD163L1 283316 broad.mit.edu 37 12 7556302 7556302 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:7556302G>A ENST00000313599.3 - 6 1294 c.1237C>T c.(1237-1239)Ccg>Tcg p.P413S CD163L1_ENST00000396630.1_Missense_Mutation_p.P413S|CD163L1_ENST00000416109.2_Missense_Mutation_p.P423S Q9NR16 C163B_HUMAN CD163 molecule-like 1 413 SRCR 4. extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 ACGCTGAACGGACATCCTAGC 0.458000 43 50 0 0 1 0 0 CASR 846 broad.mit.edu 37 3 122003902 122003902 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:122003902G>A ENST00000498619.1 + 7 3569 c.3131G>A c.(3130-3132)gGa>gAa p.G1044E CASR_ENST00000490131.1_Missense_Mutation_p.G1034E|CASR_ENST00000296154.5_Missense_Mutation_p.G1034E NM_001178065.1 NP_001171536.1 P41180 CASR_HUMAN calcium-sensing receptor 1034 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) GGTCTGCAAGGACCTGTGGGT 0.572000 34 50 0 0 1 0 0 PCDHGB3 56102 broad.mit.edu 37 5 140751497 140751497 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:140751497G>A ENST00000576222.1 + 1 1667 c.1536G>A c.(1534-1536)ggG>ggA p.G512G PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron NM_018924.2|NM_032097.1 NP_061747.1|NP_115268.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCGGAGCGGGGTGGTGTTCG 0.672000 41 58 0 0 1 0 0 PLD5 200150 broad.mit.edu 37 1 242451697 242451697 + Nonsense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:242451697C>T ENST00000442594.2 - 4 695 c.186G>A c.(184-186)tgG>tgA p.W62* PLD5_ENST00000536534.1_Nonsense_Mutation_p.W154*|PLD5_ENST00000427495.1_Nonsense_Mutation_p.W92* NM_152666.2 NP_689879.2 Q8N7P1 PLD5_HUMAN phospholipase D family, member 5 154 integral to membrane catalytic activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1) 55 Melanoma(84;0.242) OV - Ovarian serous cystadenocarcinoma(106;0.0329) GGTTGAGATCCCAATGGGAAG 0.403000 19 96 0 0 1 0 0 WDR6 11180 broad.mit.edu 37 3 49049488 49049488 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:49049488C>T ENST00000395474.3 + 2 891 c.611C>T c.(610-612)aCc>aTc p.T204I WDR6_ENST00000489684.1_3'UTR|WDR6_ENST00000415265.2_Intron|WDR6_ENST00000448293.1_Missense_Mutation_p.T123I NM_018031.3 NP_060501.3 Q9NNW5 WDR6_HUMAN WD repeat domain 6 174 cell cycle arrest|negative regulation of cell proliferation cytoplasm breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155) AAGGAGCTGACCATAGTGGCA 0.562000 14 22 0 0 1 0 0 CCDC60 160777 broad.mit.edu 37 12 119957972 119957972 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:119957972G>A ENST00000327554.2 + 9 1480 c.1015G>A c.(1015-1017)Gaa>Aaa p.E339K RP11-768F21.1_ENST00000509470.2_lincRNA NM_178499.3 NP_848594.2 Q8IWA6 CCD60_HUMAN coiled-coil domain containing 60 339 endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.207) TGCTTATAAGGAAATGCAGAC 0.483000 38 96 0 0 1 0 0 PTPRK 5796 broad.mit.edu 37 6 128330313 128330313 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:128330313G>A ENST00000368227.3 - 14 2661 c.2295C>T c.(2293-2295)atC>atT p.I765I PTPRK_ENST00000368210.3_Silent_p.I765I|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368207.3_Silent_p.I765I|PTPRK_ENST00000368226.4_Silent_p.I765I|PTPRK_ENST00000532331.1_Silent_p.I765I|PTPRK_ENST00000368213.5_Silent_p.I765I|PTPRK_ENST00000368215.3_Silent_p.I764I Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 764 cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity PTPRK/RSPO3(10) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) GGAGAAGGAGGATGAACACCA 0.418000 20 63 0 0 1 0 0 RBBP8NL 140893 broad.mit.edu 37 20 60991839 60991839 + Missense_Mutation SNP T T A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr20:60991839T>A ENST00000252998.1 - 5 446 c.290A>T c.(289-291)aAc>aTc p.N97I NM_080833.2 NP_543023.2 RBBP8 N-terminal like GCGCTGCAGGTTCTGCAGGTG 0.677000 3 12 0 0 1 0 0 PCDH1 5097 broad.mit.edu 37 5 141242887 141242887 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:141242887G>A ENST00000287008.3 - 3 3156 c.3009C>T c.(3007-3009)ttC>ttT p.F1003F PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000394536.3_Silent_p.F1003F|PCDH1_ENST00000456271.1_Silent_p.F991F|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000536585.1_Silent_p.F981F NM_032420.2 NP_115796.2 Q08174 PCDH1_HUMAN protocadherin 1 1003 cell-cell signaling|homophilic cell adhesion|nervous system development cell-cell junction|integral to plasma membrane calcium ion binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1) 51 Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;1.06e-05) CGGTGCCCACGAATGTGTTTG 0.622000 14 28 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124345791 124345791 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr10:124345791G>A ENST00000338354.3 + 16 1781 c.1675G>A c.(1675-1677)Gat>Aat p.D559N DMBT1_ENST00000344338.3_Missense_Mutation_p.D549N|DMBT1_ENST00000368955.3_Missense_Mutation_p.D549N|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000368909.3_Missense_Mutation_p.D559N|DMBT1_ENST00000368956.2_Intron Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 559 SRCR 4. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) CATTGTCCTGGATGACGTGCG 0.587000 92 55 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41711173 41711173 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr21:41711173C>T ENST00000400454.1 - 7 1857 c.1380G>A c.(1378-1380)acG>acA p.T460T NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 460 Ig-like C2-type 5. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TCCCCTCCGACGTGATCATCT 0.612000 34 31 0 0 1 0 0 KIAA1804 84451 broad.mit.edu 37 1 233515161 233515161 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:233515161C>T ENST00000366624.3 + 9 2670 c.2409C>T c.(2407-2409)tcC>tcT p.S803S MLK4_ENST00000366622.1_Silent_p.S249S NM_032435.2 NP_115811.2 GCATCCTCTCCACACCTTCTT 0.607000 15 100 0 0 1 0 0 SLC6A1 6529 broad.mit.edu 37 3 11070523 11070523 + Missense_Mutation SNP T T C TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:11070523T>C ENST00000287766.4 + 11 1602 c.1181T>C c.(1180-1182)aTt>aCt p.I394T SLC6A1_ENST00000536032.1_Missense_Mutation_p.I216T NM_003042.3 NP_003033.3 P30531 SC6A1_HUMAN solute carrier family 6 (neurotransmitter transporter), member 1 394 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 26 Ovarian(110;0.0392) OV - Ovarian serous cystadenocarcinoma(96;0.00099) Cocaine(DB00907)|Tiagabine(DB00906) ATGCTGGGCATTGACAGCCAG 0.637000 18 28 0 0 1 0 0 ITGBL1 9358 broad.mit.edu 37 13 102235631 102235631 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr13:102235631C>T ENST00000376180.3 + 6 1012 c.793C>T c.(793-795)Cat>Tat p.H265Y ITGBL1_ENST00000376162.3_Missense_Mutation_p.H172Y|ITGBL1_ENST00000545560.2_Missense_Mutation_p.H124Y NM_001271756.1|NM_004791.1 NP_001258685.1|NP_004782.1 O95965 ITGBL_HUMAN integrin, beta-like 1 (with EGF-like repeat domains) 265 Cysteine-rich tandem repeats. cell-matrix adhesion|integrin-mediated signaling pathway extracellular region|integrin complex binding|receptor activity breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3) 31 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) GGGAGATATTCATGGGGACAC 0.458000 94 87 0 0 1 0 0 CASZ1 54897 broad.mit.edu 37 1 10711037 10711037 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:10711037G>A ENST00000377022.3 - 12 3094 c.2777C>T c.(2776-2778)tCc>tTc p.S926F RP4-734G22.3_ENST00000606802.1_RNA|CASZ1_ENST00000344008.5_Missense_Mutation_p.S926F NM_001079843.1 NP_001073312.1 Q86V15 CASZ1_HUMAN castor zinc finger 1 926 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1) 54 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) GCGGTCCTGGGAGGCTTCGTG 0.706000 30 19 0 0 1 0 0 GRIK2 2898 broad.mit.edu 37 6 101847244 101847244 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:101847244G>A ENST00000369138.1 + 1 581 c.91G>A c.(91-93)Gga>Aga p.G31R GRIK2_ENST00000369137.3_Missense_Mutation_p.G31R|GRIK2_ENST00000421544.1_Missense_Mutation_p.G31R|GRIK2_ENST00000318991.6_Missense_Mutation_p.G31R|GRIK2_ENST00000413795.1_Missense_Mutation_p.G31R|GRIK2_ENST00000358361.3_Missense_Mutation_p.G31R NM_001166247.1 NP_001159719.1 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 31 glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) ATATTCTCAAGGAACCACACA 0.468000 9 85 0 0 1 0 0 CABIN1 23523 broad.mit.edu 37 22 24463103 24463103 + Nonsense_Mutation SNP G G T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr22:24463103G>T ENST00000398319.2 + 16 2588 c.2203G>T c.(2203-2205)Gag>Tag p.E735* CABIN1_ENST00000263119.5_Nonsense_Mutation_p.E735*|CABIN1_ENST00000405822.2_Nonsense_Mutation_p.E685* NM_001199281.1 NP_001186210.1 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 735 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 TTCCATTCCTGAGAGGCCAGC 0.547000 16 27 1.15088e-07 1.15644e-07 1 1 0 PDE1B 5153 broad.mit.edu 37 12 54968997 54968997 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:54968997C>T ENST00000243052.3 + 11 1616 c.1180C>T c.(1180-1182)Cgt>Tgt p.R394C PDE1B_ENST00000538346.1_Missense_Mutation_p.R353C|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000550620.1_Missense_Mutation_p.R374C NM_000924.3 NP_000915.1 Q01064 PDE1B_HUMAN phosphodiesterase 1B, calmodulin-dependent 394 Catalytic (By similarity). activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation cytosol|nucleus 3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4) 31 GGAATTCTTCCGTCAGGTAGC 0.572000 19 58 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 167760381 167760381 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:167760381C>T ENST00000409195.1 + 2 478 c.389C>T c.(388-390)cCa>cTa p.P130L XIRP2_ENST00000409728.1_Missense_Mutation_p.P130L|XIRP2_ENST00000295237.9_Missense_Mutation_p.P130L|XIRP2_ENST00000409756.2_Missense_Mutation_p.P130L|XIRP2_ENST00000420519.1_Missense_Mutation_p.P130L|XIRP2_ENST00000409043.1_Missense_Mutation_p.P130L NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 0 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 GGAAACAAACCAGCTGAGTAC 0.458000 34 55 0 0 1 0 0 CCDC88A 55704 broad.mit.edu 37 2 55566639 55566639 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:55566639G>A ENST00000436346.1 - 13 2320 c.1479C>T c.(1477-1479)atC>atT p.I493I AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000600219.1_RNA|CCDC88A_ENST00000263630.8_Silent_p.I493I|CCDC88A_ENST00000413716.2_Silent_p.I493I|CCDC88A_ENST00000336838.6_Silent_p.I493I NM_001135597.1|NM_001254943.1 NP_001129069.1|NP_001241872.1 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A 493 activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 69 CCATTTTCAGGATTTTGGAAG 0.299000 8 9 0 0 1 0 0 TMEM225 338661 broad.mit.edu 37 11 123753976 123753976 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:123753976C>T ENST00000375026.2 - 4 763 c.547G>A c.(547-549)Gaa>Aaa p.E183K NM_001013743.1 NP_001013765.1 Q6GV28 TM225_HUMAN transmembrane protein 225 183 integral to membrane endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 28 TTCTCAGATTCCTTACATTCG 0.423000 20 41 0 0 1 0 0 RBM26 64062 broad.mit.edu 37 13 79896596 79896596 + Splice_Site SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr13:79896596G>A ENST00000438737.2 - 21 3262 c.2820_splice c.e21-1 p.A941_splice RBM26_ENST00000438724.1_Splice_Site_p.A917_splice|RBM26_ENST00000267229.7_Splice_Site_p.A914_splice Q5T8P6 RBM26_HUMAN RNA binding motif protein 26 941 RRM 2. mRNA processing nucleotide binding|protein binding|RNA binding|zinc ion binding NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 33 Acute lymphoblastic leukemia(28;0.0279) GBM - Glioblastoma multiforme(99;0.0188) ATGAACTGCAGCCTAAAATGA 0.303000 49 25 0 0 1 0 0 SLC4A5 57835 broad.mit.edu 37 2 74452038 74452038 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:74452038C>T ENST00000394019.2 - 28 3572 c.3175G>A c.(3175-3177)Gag>Aag p.E1059K SLC4A5_ENST00000346834.4_Missense_Mutation_p.E978K|SLC4A5_ENST00000359484.4_Missense_Mutation_p.E957K|SLC4A5_ENST00000377632.1_Missense_Mutation_p.E978K|SLC4A5_ENST00000377634.4_Missense_Mutation_p.E1075K|SLC4A5_ENST00000358683.4_Missense_Mutation_p.E957K|SLC4A5_ENST00000423644.1_3'UTR|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000357822.5_Missense_Mutation_p.E1075K|RP11-287D1.3_ENST00000451608.2_3'UTR NM_133478.2 NP_597812.1 Q9BY07 S4A5_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 5 1075 apical plasma membrane|integral to membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 TTTTCCTTCTCTGGGAGGATG 0.527000 38 55 0 0 1 0 0 ABCF1 23 broad.mit.edu 37 6 30557645 30557645 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:30557645G>A ENST00000326195.8 + 22 2239 c.2127G>A c.(2125-2127)gaG>gaA p.E709E ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Silent_p.E671E NM_001025091.1 NP_001020262.1 Q8NE71 ABCF1_HUMAN ATP-binding cassette, sub-family F (GCN20), member 1 709 ABC transporter 2. inflammatory response|translational initiation nuclear envelope|nucleoplasm|polysomal ribosome ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2) 21 CGCCCACTGAGTACCTGCAGC 0.597000 110 89 0 0 1 0 0 CBL 867 broad.mit.edu 37 11 119170443 119170443 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:119170443C>T ENST00000264033.4 + 16 3049 c.2673C>T c.(2671-2673)atC>atT p.I891I NM_005188.3 NP_005179.2 P22681 CBL_HUMAN Cbl proto-oncogene, E3 ubiquitin protein ligase 891 Interaction with CD2AP.|UBA. epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis cytosol|nucleus calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 251 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784) CCAAAAACATCCTCCGGGAAT 0.493000 """T, Mis S, O""" MLL """AML, JMML, MDS""" Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies 218 310 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76501379 76501379 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr17:76501379C>T ENST00000389840.5 - 31 5064 c.4940G>A c.(4939-4941)gGg>gAg p.G1647E DNAH17_ENST00000585328.1_Missense_Mutation_p.G1648E dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) ACTCACCTGCCCCGAGAGGTC 0.597000 12 21 0 0 1 0 0 KNDC1 85442 broad.mit.edu 37 10 135032400 135032400 + Silent SNP C C T rs139504552 TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr10:135032400C>T ENST00000304613.3 + 27 4764 c.4743C>T c.(4741-4743)ttC>ttT p.F1581F KNDC1_ENST00000368572.2_Silent_p.F1583F Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) containing 1 1581 Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 60 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) AGAGAAACTTCGCGACAGCCA 0.567000 4 88 0 0 1 0 0 GSTA2 2939 broad.mit.edu 37 6 52615490 52615490 + Missense_Mutation SNP T T C TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:52615490T>C ENST00000493422.1 - 7 709 c.554A>G c.(553-555)aAa>aGa p.K185R NM_000846.4 NP_000837.3 P09210 GSTA2_HUMAN glutathione S-transferase alpha 2 185 GST C-terminal. glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Lung NSC(77;0.118) Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163) GATTCTGGTTTTCAGGGCCTG 0.493000 36 54 0 0 1 0 0 KIF5A 3798 broad.mit.edu 37 12 57972099 57972099 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:57972099G>A ENST00000455537.2 + 23 2786 c.2512G>A c.(2512-2514)Gaa>Aaa p.E838K KIF5A_ENST00000286452.5_Missense_Mutation_p.E749K NM_004984.2 NP_004975.2 Q12840 KIF5A_HUMAN kinesin family member 5A 838 blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2) 62 GAACAACCTGGAACAGCTTAC 0.473000 31 43 0 0 1 0 0 GSTA1 2938 broad.mit.edu 37 6 52656675 52656675 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:52656675C>T ENST00000334575.5 - 7 805 c.650G>A c.(649-651)aGg>aAg p.R217K GSTA1_ENST00000493331.1_5'UTR NM_145740.3 NP_665683.1 P08263 GSTA1_HUMAN glutathione S-transferase alpha 1 217 glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 12 Lung NSC(77;0.118) Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143) GAAAATCTTCCTTGCTTCTTC 0.418000 21 67 0 0 1 0 0 TUBA3C 7278 broad.mit.edu 37 13 19751676 19751676 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr13:19751676G>A ENST00000400113.3 - 4 551 c.447C>T c.(445-447)ttC>ttT p.F149F NM_006001.2 NP_005992.1 Q13748 TBA3C_HUMAN tubulin, alpha 3c 149 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1) 72 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) GCAGAGATGCGAACCCAGAGC 0.567000 47 65 0 0 1 0 0 FAAH2 158584 broad.mit.edu 37 X 57515256 57515256 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chrX:57515256C>T ENST00000374900.4 + 11 1610 c.1490C>T c.(1489-1491)cCt>cTt p.P497L FAAH2_ENST00000491179.1_3'UTR NM_174912.3 NP_777572.2 Q6GMR7 FAAH2_HUMAN fatty acid amide hydrolase 2 497 integral to membrane carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3) 22 AAAGGACTCCCTTTAGGCATC 0.502000 HNSCC(52;0.14) 19 4 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126373497 126373497 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr4:126373497C>T ENST00000394329.3 + 9 11339 c.11326C>T c.(11326-11328)Ccc>Tcc p.P3776S FAT4_ENST00000335110.5_Missense_Mutation_p.P2074S NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 3776 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 GTATGTGAATCCCAGTGGCGT 0.463000 53 31 0 0 1 0 0 AP3B2 8120 broad.mit.edu 37 15 83333685 83333685 + Nonsense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr15:83333685C>T ENST00000261722.3 - 17 2189 c.1982G>A c.(1981-1983)tGg>tAg p.W661* AP3B2_ENST00000535348.1_Nonsense_Mutation_p.W629*|AP3B2_ENST00000535359.1_Nonsense_Mutation_p.W680*|RP11-752G15.3_ENST00000560650.1_RNA NM_004644.3 NP_004635.2 Q13367 AP3B2_HUMAN adaptor-related protein complex 3, beta 2 subunit 661 Glu/Ser-rich. endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat binding|protein transporter activity breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(143;0.229) GCACTTGGTCCATTCAGGTAC 0.547000 4 6 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158615073 158615073 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:158615073C>T ENST00000368148.3 - 29 4279 c.4099G>A c.(4099-4101)Gaa>Aaa p.E1367K SPTA1_ENST00000368147.3_Missense_Mutation_p.E1367K NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1367 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) AGCTTTTTTTCAATTTCAGGG 0.507000 18 85 0 0 1 0 0 GALNT11 63917 broad.mit.edu 37 7 151791535 151791535 + Missense_Mutation SNP A A C TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:151791535A>C ENST00000434507.1 + 4 660 c.223A>C c.(223-225)Aaa>Caa p.K75Q GALNT11_ENST00000482812.1_3'UTR|GALNT11_ENST00000415421.1_Missense_Mutation_p.K75Q|GALNT11_ENST00000320311.2_Missense_Mutation_p.K75Q|GALNT11_ENST00000452146.2_Intron|GALNT11_ENST00000422997.2_Missense_Mutation_p.K75Q|GALNT11_ENST00000430044.2_Missense_Mutation_p.K75Q Q8NCW6 GLT11_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11) 75 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2) 27 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.214) OV - Ovarian serous cystadenocarcinoma(82;0.00168) UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932) CAAAGCAAACAAAATTGACGA 0.463000 36 49 0 0 1 0 0 FARP2 9855 broad.mit.edu 37 2 242396268 242396268 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:242396268C>T ENST00000264042.3 + 14 1688 c.1518C>T c.(1516-1518)tcC>tcT p.S506S FARP2_ENST00000545004.1_Silent_p.S506S|FARP2_ENST00000373287.4_Silent_p.S506S NM_014808.2 NP_055623.1 O94887 FARP2_HUMAN FERM, RhoGEF and pleckstrin domain protein 2 506 Pro-rich. axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction cytoskeleton|cytosol|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 43 all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121) AGGGCTCATCCCCACTCCTGA 0.637000 25 46 0 0 1 0 0 TENM2 57451 broad.mit.edu 37 5 167630771 167630771 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:167630771G>A ENST00000519204.1 + 17 3263 c.3145G>A c.(3145-3147)Gag>Aag p.E1049K TENM2_ENST00000545108.1_Missense_Mutation_p.E1170K|TENM2_ENST00000518659.1_Missense_Mutation_p.E1170K|TENM2_ENST00000403607.2_Missense_Mutation_p.E994K|TENM2_ENST00000520394.1_Missense_Mutation_p.E938K teneurin transmembrane protein 2 TCAGGGATTCGAGCTGGACCC 0.502000 31 102 0 0 1 0 0 CYP4F2 8529 broad.mit.edu 37 19 15989651 15989651 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:15989651G>A ENST00000221700.5 - 13 1588 c.1493C>T c.(1492-1494)cCc>cTc p.P498L CYP4F2_ENST00000592328.1_Missense_Mutation_p.P498L NM_001082.3 NP_001073.3 P78329 CP4F2_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 2 498 leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 CTTCCTGCGGGGCTCGGTGTG 0.667000 4 62 0 0 1 0 0 CRYGA 1418 broad.mit.edu 37 2 209028143 209028143 + Nonsense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:209028143G>A ENST00000304502.4 - 2 56 c.37C>T c.(37-39)Cag>Tag p.Q13* NM_014617.3 NP_055432.2 crystallin, gamma A endometrium(1)|kidney(3)|large_intestine(1)|lung(7) 12 Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135) CAGCGACCCTGAAAGTCTCGG 0.542000 31 78 0 0 1 0 0 TEX14 56155 broad.mit.edu 37 17 56699100 56699100 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr17:56699100G>A ENST00000389934.3 - 5 582 c.465C>T c.(463-465)atC>atT p.I155I TEX14_ENST00000240361.8_Silent_p.I155I|TEX14_ENST00000349033.5_Silent_p.I155I NM_001201457.1|NM_198393.3 NP_001188386.1|NP_938207.2 Q8IWB6 TEX14_HUMAN testis expressed 14 155 cytoplasm ATP binding|protein kinase activity breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 81 Medulloblastoma(34;0.127)|all_neural(34;0.237) AGAAGCCCTGGATGATGGCCT 0.582000 25 37 0 0 1 0 0 SPEN 23013 broad.mit.edu 37 1 16256880 16256880 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:16256880C>T ENST00000375759.3 + 11 4349 c.4145C>T c.(4144-4146)tCt>tTt p.S1382F NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 1382 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) CCTTCTGATTCTGACGAAGAT 0.433000 5 57 0 0 1 0 0 ZNF727 442319 broad.mit.edu 37 7 63538523 63538523 + Missense_Mutation SNP A A G TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:63538523A>G ENST00000550760.3 + 4 1275 c.1096A>G c.(1096-1098)Aga>Gga p.R366G NM_001159522.1 NP_001152994.1 A8MUV8 ZN727_HUMAN zinc finger protein 727 366 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1) 8 TATGGAATTGAGACCTTACAA 0.388000 4 11 0 0 1 0 0 CCDC70 83446 broad.mit.edu 37 13 52440032 52440032 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr13:52440032G>A ENST00000242819.4 + 2 814 c.518G>A c.(517-519)gGg>gAg p.G173E NM_031290.2 NP_112580.2 Q6NSX1 CCD70_HUMAN coiled-coil domain containing 70 173 extracellular region|plasma membrane breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1) 15 Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;2.4e-08) CTCCTTGAGGGGGAGAAAGCC 0.547000 37 109 0 0 1 0 0 TRHR 7201 broad.mit.edu 37 8 110099808 110099808 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:110099808G>A ENST00000518632.1 + 2 418 c.67G>A c.(67-69)Gaa>Aaa p.E23K TRHR_ENST00000311762.2_Missense_Mutation_p.E23K P34981 TRFR_HUMAN thyrotropin-releasing hormone receptor 23 integral to plasma membrane thyrotropin-releasing hormone receptor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(57;2.3e-11) GGTGGCCTTAGAATACCAGGT 0.458000 27 33 0 0 1 0 0 GLYATL1 92292 broad.mit.edu 37 11 58722282 58722282 + Missense_Mutation SNP C C T rs151204927 TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:58722282C>T ENST00000300079.5 + 5 369 c.319C>T c.(319-321)Cgt>Tgt p.R107C GLYATL1_ENST00000317391.4_Missense_Mutation_p.R76C|RP11-142C4.6_ENST00000533954.1_RNA NM_001220496.1|NM_080661.3 NP_001207425.1|NP_542392.2 Q969I3 GLYL1_HUMAN glycine-N-acyltransferase-like 1 76 mitochondrion glycine N-acyltransferase activity NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1) 34 Glycine(DB00145) AAACGTATATCGTATGTTCTC 0.383000 25 42 0 0 1 0 0 CASP8AP2 9994 broad.mit.edu 37 6 90573152 90573152 + RNA SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:90573152C>T ENST00000551025.1 + 0 3161 Q9UKL3 C8AP2_HUMAN caspase 8 associated protein 2 cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|nucleus caspase activator activity|death receptor binding|transcription corepressor activity NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2) 51 all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0953) CAACCTGTTTCCCAGGATAAT 0.368000 11 4 0 0 1 0 0 MMACHC 25974 broad.mit.edu 37 1 45973110 45973110 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:45973110C>T ENST00000401061.4 + 2 444 c.164C>T c.(163-165)aCg>aTg p.T55M NM_015506.2 NP_056321.2 Q9Y4U1 MMAC_HUMAN methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria 55 cobalamin binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 8 Acute lymphoblastic leukemia(166;0.155) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GTACTCAGCACGCCTGCCATG 0.587000 4 74 0 0 1 0 0 ADAM29 11086 broad.mit.edu 37 4 175898711 175898711 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr4:175898711C>T ENST00000359240.3 + 5 2705 c.2035C>T c.(2035-2037)Ctg>Ttg p.L679L ADAM29_ENST00000514159.1_Silent_p.L679L|ADAM29_ENST00000404450.4_Silent_p.L679L|ADAM29_ENST00000445694.1_Silent_p.L679L NM_001278125.1|NM_014269.4 NP_001265054.1|NP_055084.3 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 679 proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) GTTCTGTTATCTGTGTATATT 0.358000 6 28 0 0 1 0 0 PXDNL 137902 broad.mit.edu 37 8 52287214 52287214 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:52287214C>T ENST00000356297.4 - 18 3735 c.3635G>A c.(3634-3636)gGa>gAa p.G1212E PXDNL_ENST00000543296.1_Missense_Mutation_p.G1212E NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 1212 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) AAGTGTTGGTCCCACTCTTGT 0.458000 6 43 0 0 1 0 0 CYP2C19 1557 broad.mit.edu 37 10 96602692 96602692 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr10:96602692G>A ENST00000371321.3 + 7 1142 c.1060G>A c.(1060-1062)Gag>Aag p.E354K CYP2C19_ENST00000464755.1_3'UTR NM_000769.1 NP_000760.1 P33261 CP2CJ_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 19 354 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 43 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) TGTGGTGCACGAGGTCCAGAG 0.532000 77 29 0 0 1 0 0 LACRT 90070 broad.mit.edu 37 12 55025539 55025539 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:55025539C>T ENST00000257867.4 - 4 391 c.338G>A c.(337-339)gGa>gAa p.G113E LACRT_ENST00000547511.1_Missense_Mutation_p.G102E NM_033277.1 NP_150593.1 Q9GZZ8 LACRT_HUMAN lacritin 113 calcineurin-NFAT signaling pathway|positive regulation of epithelial cell proliferation|positive regulation of NFAT protein import into nucleus|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of secretion|protein localization in Golgi apparatus|tear secretion extracellular region|stored secretory granule collagen binding|fibronectin binding|glycoprotein binding|growth factor activity|laminin-1 binding|protein N-terminus binding breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(1) 10 GAATTGTTTTCCACCTGGCAC 0.473000 13 68 0 0 1 0 0 SPEG 10290 broad.mit.edu 37 2 220355280 220355280 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:220355280C>T ENST00000312358.7 + 37 9203 c.9071C>T c.(9070-9072)tCc>tTc p.S3024F AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 3024 Protein kinase 2. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) CGGATCATGTCCCTGCACGAG 0.632000 23 29 0 0 1 0 0 MROH9 80133 broad.mit.edu 37 1 170955831 170955831 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:170955831C>T ENST00000367759.4 + 10 1013 c.859C>T c.(859-861)Cat>Tat p.H287Y MROH9_ENST00000367758.3_Missense_Mutation_p.H287Y NM_001163629.1 NP_001157101.1 maestro heat-like repeat family member 9 TCTGGAATTTCATGCCGAGAA 0.428000 14 82 0 0 1 0 0 MYH11 4629 broad.mit.edu 37 16 15815413 15815413 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr16:15815413C>T ENST00000338282.6 - 32 4550 c.4444G>A c.(4444-4446)Gaa>Aaa p.E1482K NDE1_ENST00000396355.1_Intron|MYH11_ENST00000576790.1_Missense_Mutation_p.E1482K|NDE1_ENST00000342673.5_Intron|NDE1_ENST00000396354.1_Intron|MYH11_ENST00000452625.2_Missense_Mutation_p.E1489K|MYH11_ENST00000396324.3_Missense_Mutation_p.E1489K|MYH11_ENST00000300036.5_Missense_Mutation_p.E1482K NM_022844.2 NP_074035.1 P35749 MYH11_HUMAN myosin, heavy chain 11, smooth muscle 1482 axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 GCCTTGGTTTCCTTCTCCCTG 0.532000 T CBFB AML 43 56 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38874181 38874181 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:38874181G>A ENST00000359357.3 + 61 8949 c.8695G>A c.(8695-8697)Gag>Aag p.E2899K DNAH8_ENST00000449981.2_Missense_Mutation_p.E3116K|DNAH8_ENST00000441566.1_Missense_Mutation_p.E2863K dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 ATCTTCAGGGGAGGTAAGTCT 0.338000 7 17 0 0 1 0 0 CTRC 11330 broad.mit.edu 37 1 15772136 15772136 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:15772136C>T ENST00000375949.4 + 7 710 c.684C>T c.(682-684)tcC>tcT p.S228S CTRC_ENST00000483406.1_3'UTR|CTRC_ENST00000375943.2_3'UTR NM_007272.2 NP_009203.2 Q99895 CTRC_HUMAN chymotrypsin C (caldecrin) 228 Peptidase S1. proteolysis serine-type endopeptidase activity endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|prostate(1) 13 Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) AGAACGGTTCCTGGGAGGTGT 0.647000 93 49 0 0 1 0 0 SNX19 399979 broad.mit.edu 37 11 130784874 130784874 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:130784874C>T ENST00000265909.4 - 1 1530 c.961G>A c.(961-963)Ggt>Agt p.G321S SNX19_ENST00000539184.1_Intron|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000528555.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000533214.1_Missense_Mutation_p.G321S NM_014758.2 NP_055573.2 Q92543 SNX19_HUMAN sorting nexin 19 321 cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding|protein binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1) 35 all_hematologic(175;0.0597) Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233) CCTGCAGAACCCTCTGGCTCA 0.522000 35 52 0 0 1 0 0 ITGAD 3681 broad.mit.edu 37 16 31422716 31422716 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr16:31422716G>A ENST00000389202.2 + 14 1634 c.1585G>A c.(1585-1587)Gat>Aat p.D529N NM_005353.2 NP_005344.2 Q13349 ITAD_HUMAN integrin, alpha D 529 cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 AGTGTTGGGGGATGTGAATGA 0.622000 84 142 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1265952 1265952 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:1265952G>A ENST00000447027.1 + 31 7909 c.7851G>A c.(7849-7851)acG>acA p.T2617T MUC5B_ENST00000529681.1_Silent_p.T2614T|RP11-532E4.2_ENST00000532061.2_RNA Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 2614 11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CCACAACCACGGGCTTCACAG 0.647000 82 120 0 0 1 0 0 CLEC16A 23274 broad.mit.edu 37 16 11114054 11114054 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr16:11114054C>T ENST00000409790.1 + 12 1538 c.1308C>T c.(1306-1308)atC>atT p.I436I CLEC16A_ENST00000409552.3_Silent_p.I418I NM_015226.2 NP_056041.1 Q2KHT3 CL16A_HUMAN C-type lectin domain family 16, member A 436 p.0?(1) breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 TTCCAGAGATCGAGATGGTGA 0.517000 23 28 0 0 1 0 0 ITLN1 55600 broad.mit.edu 37 1 160850433 160850433 + Silent SNP G G A rs140203242 TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:160850433G>A ENST00000326245.3 - 6 745 c.630C>T c.(628-630)gtC>gtT p.V210V ITLN1_ENST00000487531.1_5'UTR NM_017625.2 NP_060095.2 Q8WWA0 ITLN1_HUMAN intelectin 1 (galactofuranose binding) 210 Fibrinogen C-terminal. positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction anchored to membrane|brush border membrane|extracellular region|membrane raft receptor binding|sugar binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 21 all_cancers(52;2.99e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) CAAAATCATAGACCACAGGGA 0.443000 89 156 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179466495 179466495 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:179466495G>A ENST00000589042.1 - 286 55546 c.55322C>T c.(55321-55323)tCc>tTc p.S18441F TTN_ENST00000342992.6_Missense_Mutation_p.S15873F|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S16800F|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S9376F|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S9568F|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S9501F|TTN-AS1_ENST00000456053.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 16800 Ig-like 106. 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) AATTACTGAGGAGTTTTCAGC 0.343000 25 43 0 0 1 0 0 GUCY2F 2986 broad.mit.edu 37 X 108636170 108636170 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chrX:108636170C>T ENST00000218006.2 - 13 2830 c.2539G>A c.(2539-2541)Gaa>Aaa p.E847K NM_001522.2 NP_001513.2 P51841 GUC2F_HUMAN guanylate cyclase 2F, retinal 847 intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1) 67 TTTTCAATTTCCAGCTCTTCA 0.403000 54 10 0 0 1 0 0 TAS2R9 50835 broad.mit.edu 37 12 10962343 10962343 + Missense_Mutation SNP A A T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:10962343A>T ENST00000240691.2 - 1 424 c.332T>A c.(331-333)aTa>aAa p.I111K NM_023917.2 NP_076406.1 Q9NYW1 TA2R9_HUMAN taste receptor, type 2, member 9 111 sensory perception of taste integral to membrane taste receptor activity endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 TATATTGGCTATCTTGAGTAA 0.378000 12 27 0 0 1 0 0 ATP8B4 79895 broad.mit.edu 37 15 50336869 50336869 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr15:50336869G>A ENST00000284509.6 - 5 363 c.222C>T c.(220-222)tcC>tcT p.S74S ATP8B4_ENST00000559829.1_Silent_p.S74S|ATP8B4_ENST00000558959.1_5'UTR NM_024837.2 NP_079113.2 Q8TF62 AT8B4_HUMAN ATPase, class I, type 8B, member 4 74 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) ACCAGGTCAAGGAGGAAATTT 0.363000 15 21 0 0 1 0 0 SLC11A1 6556 broad.mit.edu 37 2 219254649 219254649 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:219254649C>T ENST00000233202.6 + 9 1192 c.852C>T c.(850-852)ttC>ttT p.F284F SLC11A1_ENST00000539932.1_Silent_p.F166F NM_000578.3 NP_000569.3 P49279 NRAM1_HUMAN solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1 284 activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 19 Renal(207;0.0474) Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ACATGTACTTCCTGATTGAGG 0.537000 20 29 0 0 1 0 0 SLC45A4 57210 broad.mit.edu 37 8 142221623 142221623 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:142221623G>A ENST00000024061.3 - 8 2622 c.2315C>T c.(2314-2316)cCa>cTa p.P772L SLC45A4_ENST00000433583.2_3'UTR|SLC45A4_ENST00000519067.1_3'UTR|SLC45A4_ENST00000517878.1_3'UTR NM_001080431.1 NP_001073900.1 Q5BKX6 S45A4_HUMAN solute carrier family 45, member 4 0 transport integral to membrane breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) GGGCTGCCCTGGGCACAATGT 0.507000 67 136 0 0 1 0 0 SYNJ2 8871 broad.mit.edu 37 6 158504540 158504540 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:158504540G>A ENST00000355585.4 + 21 3020 c.2945G>A c.(2944-2946)cGa>cAa p.R982Q SYNJ2_ENST00000367121.3_Missense_Mutation_p.R982Q|SYNJ2_ENST00000367112.1_Missense_Mutation_p.R67Q|SYNJ2_ENST00000367122.2_Missense_Mutation_p.R982Q NM_001178088.1|NM_003898.3 NP_001171559.1|NP_003889.1 O15056 SYNJ2_HUMAN synaptojanin 2 982 nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) ATTCGGAAACGAGACAGCATG 0.532000 32 39 0 0 1 0 0 DUSP8 1850 broad.mit.edu 37 11 1586955 1586955 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:1586955G>A ENST00000397374.3 - 2 229 c.102C>T c.(100-102)tcC>tcT p.S34S DUSP8_ENST00000331588.4_Silent_p.S34S NM_004420.2 NP_004411.2 Q13202 DUS8_HUMAN dual specificity phosphatase 8 34 Rhodanese. inactivation of MAPK activity cytoplasm|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity endometrium(1)|lung(2)|prostate(1)|urinary_tract(1) 5 all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825) ACTCCACGAAGGAGCGGCTGT 0.662000 71 122 0 0 1 0 0 SIK1 150094 broad.mit.edu 37 21 44836750 44836750 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr21:44836750G>A ENST00000270162.6 - 14 2356 c.2224C>T c.(2224-2226)Ccc>Tcc p.P742S NM_173354.3 NP_775490.2 P57059 SIK1_HUMAN salt-inducible kinase 1 742 anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1) 21 GGCACAGCGGGGAGGGCGGTG 0.731000 7 13 0 0 1 0 0 IGHV1OR16-4 28312 broad.mit.edu 37 16 33013856 33013856 + RNA SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr16:33013856C>T ENST00000567619.1 - 0 499 GTGAAGGTCTCCTGCCAGGCT 0.567000 26 67 0 0 1 0 0 C1QTNF7 114905 broad.mit.edu 37 4 15444230 15444230 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr4:15444230G>A ENST00000295297.4 + 3 957 c.698G>A c.(697-699)gGa>gAa p.G233E C1QTNF7_ENST00000429690.1_Missense_Mutation_p.G226E|C1QTNF7_ENST00000444304.2_Missense_Mutation_p.G226E NM_001135170.1 NP_001128642.1 Q9BXJ2 C1QT7_HUMAN C1q and tumor necrosis factor related protein 7 226 C1q. collagen endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1) 16 GCCAACACAGGAAACCATGAT 0.458000 93 48 0 0 1 0 0 PASK 23178 broad.mit.edu 37 2 242080067 242080067 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:242080067C>T ENST00000403638.3 - 3 389 c.298G>A c.(298-300)Gaa>Aaa p.E100K PASK_ENST00000539818.1_Intron|PASK_ENST00000358649.4_Missense_Mutation_p.E100K|PASK_ENST00000544142.1_Intron|PASK_ENST00000405260.1_Missense_Mutation_p.E100K|PASK_ENST00000234040.4_Missense_Mutation_p.E100K NM_001252124.1 NP_001239053.1 Q96RG2 PASK_HUMAN PAS domain containing serine/threonine kinase 100 regulation of transcription, DNA-dependent Golgi apparatus ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity p.E100K(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2) 53 all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|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;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968) CCCCGCGGTTCGGACGGGTCC 0.597000 28 37 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41711115 41711115 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr21:41711115C>T ENST00000400454.1 - 7 1915 c.1438G>A c.(1438-1440)Gga>Aga p.G480R NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 480 Ig-like C2-type 5. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) CGGTAGACTCCCCCGTCCCGG 0.562000 14 42 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124323032 124323032 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:124323032G>A ENST00000409039.3 + 28 4603 c.4578G>A c.(4576-4578)gtG>gtA p.V1526V NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1526 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) AAGACCCCGTGATCAAGAGGT 0.547000 7 21 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181706660 181706660 + Splice_Site SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:181706660G>A ENST00000526775.1 + 22 3530 c.e22-1 CACNA1E_ENST00000357570.5_Splice_Site|CACNA1E_ENST00000367573.2_Splice_Site|CACNA1E_ENST00000360108.3_Splice_Site|CACNA1E_ENST00000367567.4_Splice_Site|CACNA1E_ENST00000358338.5_Splice_Site|CACNA1E_ENST00000367570.1_Splice_Site NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 ACTGCCCGCAGGATCCGGAGG 0.622000 4 75 0 0 1 0 0 SI 6476 broad.mit.edu 37 3 164716450 164716450 + Missense_Mutation SNP T T C TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:164716450T>C ENST00000264382.3 - 38 4480 c.4418A>G c.(4417-4419)aAg>aGg p.K1473R NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1473 Sucrase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TCCAGTTGTCTTCTGCAATGC 0.373000 HNSCC(35;0.089) 13 25 0 0 1 0 0 ARID5B 84159 broad.mit.edu 37 10 63852508 63852508 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr10:63852508C>T ENST00000279873.7 + 10 3696 c.3286C>T c.(3286-3288)Ccg>Tcg p.P1096S ARID5B_ENST00000309334.5_Missense_Mutation_p.P853S NM_032199.2 NP_115575.1 Q14865 ARI5B_HUMAN AT rich interactive domain 5B (MRF1-like) 1096 liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent protein binding|transcription regulatory region DNA binding NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 Prostate(12;0.016)|all_hematologic(501;0.215) CTCCAGGCTCCCGGCTGGGTA 0.567000 6 69 0 0 1 0 0 EGFLAM 133584 broad.mit.edu 37 5 38425169 38425169 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:38425169G>A ENST00000322350.5 + 13 2131 c.1785G>A c.(1783-1785)ggG>ggA p.G595G EGFLAM_ENST00000354891.3_Silent_p.G595G|EGFLAM_ENST00000397202.2_5'UTR|EGFLAM_ENST00000336740.6_Silent_p.G361G|EGFLAM-AS1_ENST00000508986.1_RNA NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 595 EGF-like 2. cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) GTCCCCTTGGGTTTAAAGGTC 0.463000 56 178 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124336085 124336085 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr10:124336085C>T ENST00000338354.3 + 7 560 c.454C>T c.(454-456)Cca>Tca p.P152S DMBT1_ENST00000344338.3_Missense_Mutation_p.P152S|DMBT1_ENST00000368955.3_Missense_Mutation_p.P152S|DMBT1_ENST00000359586.6_Missense_Mutation_p.P152S|DMBT1_ENST00000330163.4_Missense_Mutation_p.P152S|DMBT1_ENST00000368909.3_Missense_Mutation_p.P152S|DMBT1_ENST00000368956.2_Missense_Mutation_p.P152S Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 152 SRCR 1. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) CATGTCAGCTCCAGGAAATGC 0.602000 128 52 0 0 1 0 0 NLRP9 338321 broad.mit.edu 37 19 56220346 56220346 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:56220346G>A ENST00000332836.2 - 9 2935 c.2908C>T c.(2908-2910)Ccc>Tcc p.P970S CTD-2611O12.8_ENST00000596293.1_RNA NM_176820.2 NP_789790.2 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 970 cytoplasm ATP binding NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3) 74 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) GTCAGATGGGGAATTTTTTCT 0.413000 11 20 0 0 1 0 0 DSEL 92126 broad.mit.edu 37 18 65179567 65179567 + Missense_Mutation SNP C C A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr18:65179567C>A ENST00000310045.7 - 2 3782 c.2309G>T c.(2308-2310)aGa>aTa p.R770I CTD-2541J13.2_ENST00000583493.1_RNA NM_032160.2 NP_115536.1 Q8IZU8 DSEL_HUMAN dermatan sulfate epimerase-like 760 integral to membrane isomerase activity|sulfotransferase activity NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129) CCTATCATGTCTTACAGGCTT 0.378000 24 32 6.32553e-13 6.39267e-13 1 1 0 GALNT8 26290 broad.mit.edu 37 12 4872537 4872537 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:4872537C>T ENST00000252318.2 + 8 1815 c.1478C>T c.(1477-1479)aCc>aTc p.T493I NM_017417.1 NP_059113.1 Q9NY28 GALT8_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) 493 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 35 CCACTCCACACCATCGTGGGC 0.413000 20 40 0 0 1 0 0 MYH14 79784 broad.mit.edu 37 19 50784856 50784856 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:50784856C>T ENST00000440075.2 + 33 4343 c.4296C>T c.(4294-4296)tcC>tcT p.S1432S MYH14_ENST00000596571.1_Silent_p.S1391S|MYH14_ENST00000425460.1_Silent_p.S1399S|MYH14_ENST00000376970.2_Silent_p.S1424S|MYH14_ENST00000262269.8_Silent_p.S1432S|MYH14_ENST00000601313.1_Silent_p.S1432S|MYH14_ENST00000598205.1_Silent_p.S1399S Q7Z406 MYH14_HUMAN myosin, heavy chain 14, non-muscle 1391 axon guidance|regulation of cell shape myosin complex actin binding|ATP binding|calmodulin binding|motor activity central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 46 all_neural(266;0.0571)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195) CTCAGCTTTCCGAGTGGCGGC 0.682000 6 21 0 0 1 0 0 WDFY3 23001 broad.mit.edu 37 4 85599427 85599427 + Nonsense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr4:85599427G>A ENST00000322366.6 - 65 10509 c.10102C>T c.(10102-10104)Cga>Tga p.R3368* WDFY3_ENST00000295888.4_Nonsense_Mutation_p.R3385* Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 3385 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) CGTTCCCATCGGTACCCTGGA 0.502000 31 40 0 0 1 0 0 PRAMEF1 65121 broad.mit.edu 37 1 12853479 12853479 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:12853479C>T ENST00000332296.7 + 2 206 c.103C>T c.(103-105)Ctc>Ttc p.L35F NM_023013.2 NP_075389.1 O95521 PRAM1_HUMAN PRAME family member 1 35 cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GCCCAGGGTGCTCTATCTCCC 0.617000 34 155 0 0 1 0 0 ST18 9705 broad.mit.edu 37 8 53084897 53084897 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:53084897C>T ENST00000276480.7 - 10 1207 c.524G>A c.(523-525)gGa>gAa p.G175E NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 175 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) CTTGTCTCTTCCATCATCAGA 0.433000 21 31 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179613170 179613170 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:179613170C>T ENST00000360870.5 - 46 14179 c.13957G>A c.(13957-13959)Gaa>Aaa p.E4653K TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 767 Ig-like 26. 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) TGTAACGTTTCAGGGCTAGGA 0.368000 42 59 0 0 1 0 0 POU6F2 11281 broad.mit.edu 37 7 39243911 39243911 + Missense_Mutation SNP C C T rs148094915 TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:39243911C>T ENST00000518318.2 + 3 310 c.268C>T c.(268-270)Cca>Tca p.P90S POU6F2_ENST00000559001.1_Missense_Mutation_p.P82S|POU6F2_ENST00000403058.1_Missense_Mutation_p.P90S|POU6F2_ENST00000517348.1_3'UTR P78424 PO6F2_HUMAN POU class 6 homeobox 2 90 central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 CCCCCCATTTCCAGTTGGGCC 0.453000 12 14 0 0 1 0 0 RBP2 5948 broad.mit.edu 37 3 139181066 139181066 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:139181066C>T ENST00000232217.2 - 2 196 c.140G>A c.(139-141)gGt>gAt p.G47D RP11-319G6.1_ENST00000515247.1_RNA NM_004164.2 NP_004155.2 P50120 RET2_HUMAN retinol binding protein 2, cellular 47 epidermis development|retinoid metabolic process|steroid metabolic process|vitamin A metabolic process cytosol retinal binding|retinol binding|transporter activity breast(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 12 Vitamin A(DB00162) GAAGTTATCACCATCTTGATC 0.428000 32 40 0 0 1 0 0 GTF2I 2969 broad.mit.edu 37 7 74159269 74159269 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:74159269C>T ENST00000324896.4 + 21 2312 c.1923C>T c.(1921-1923)ttC>ttT p.F641F GTF2I_ENST00000353920.4_Silent_p.F621F|GTF2I_ENST00000346152.4_Silent_p.F620F|GTF2I_ENST00000438130.2_3'UTR|GTF2I_ENST00000416070.1_Silent_p.F600F NM_032999.2 NP_127492.1 P78347 GTF2I_HUMAN general transcription factor IIi 641 negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 19 AAATCAAGTTCGTTGTTAAAA 0.413000 18 38 0 0 1 0 0 SNAP91 9892 broad.mit.edu 37 6 84302256 84302256 + Splice_Site SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:84302256C>T ENST00000428679.2 - 21 2441 c.1846_splice c.e21-1 p.V616_splice SNAP91_ENST00000521743.1_Splice_Site_p.V616_splice|SNAP91_ENST00000521485.1_Splice_Site_p.V616_splice|SNAP91_ENST00000369694.2_Splice_Site_p.V616_splice|SNAP91_ENST00000195649.6_Splice_Site_p.V616_splice|SNAP91_ENST00000437520.1_Intron|SNAP91_ENST00000520213.1_Intron|SNAP91_ENST00000439399.2_Splice_Site_p.V616_splice|SNAP91_ENST00000520302.1_Intron O60641 AP180_HUMAN synaptosomal-associated protein, 91kDa 616 clathrin coat assembly clathrin coat|coated pit|plasma membrane 1-phosphatidylinositol binding|clathrin binding breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0967) CAAATGCATCCACTGCAGTGA 0.493000 8 15 0 0 1 0 0 ZNF608 57507 broad.mit.edu 37 5 123982628 123982628 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:123982628G>A ENST00000306315.5 - 4 3884 c.3449C>T c.(3448-3450)tCg>tTg p.S1150L ZNF608_ENST00000504926.1_Missense_Mutation_p.S723L NM_020747.2 NP_065798.2 Q9ULD9 ZN608_HUMAN zinc finger protein 608 1150 intracellular zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1) 46 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) GATTGTGGCCGATGGCATATT 0.468000 30 56 0 0 1 0 0 SLC45A4 57210 broad.mit.edu 37 8 142228572 142228572 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:142228572G>A ENST00000519067.1 - 4 1317 c.1014C>T c.(1012-1014)tcC>tcT p.S338S SLC45A4_ENST00000433583.2_Silent_p.S331S|SLC45A4_ENST00000024061.3_Silent_p.S338S|SLC45A4_ENST00000517878.1_Silent_p.S389S Q5BKX6 S45A4_HUMAN solute carrier family 45, member 4 389 transport integral to membrane breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) CTTTTGTGGGGGAGCCACTTC 0.642000 27 59 0 0 1 0 0 LST3 0 broad.mit.edu 37 12 21196486 21196486 + Nonsense_Mutation SNP A A T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:21196486A>T ENST00000381541.3 + 7 1011 c.946A>T c.(946-948)Aaa>Taa p.K316* SLCO1B3_ENST00000553473.1_Intron|SLCO1B7_ENST00000421593.2_Nonsense_Mutation_p.K269*|LST3_ENST00000540229.1_Intron|SLCO1B7_ENST00000554957.1_Nonsense_Mutation_p.K316* CAACCGAAGAAAATATATTAC 0.299000 8 5 0 0 1 0 0 PLCB1 23236 broad.mit.edu 37 20 8639258 8639258 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr20:8639258C>T ENST00000378641.3 + 9 1244 c.769C>T c.(769-771)Cgg>Tgg p.R257W PLCB1_ENST00000378637.2_Missense_Mutation_p.R257W|PLCB1_ENST00000338037.6_Missense_Mutation_p.R257W NM_182734.1 NP_877398.1 Q9NQ66 PLCB1_HUMAN phospholipase C, beta 1 (phosphoinositide-specific) 257 activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 GCGAGATCCTCGGCTTAATGA 0.383000 16 56 0 0 1 0 0 GNG4 2786 broad.mit.edu 37 1 235747047 235747047 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:235747047C>T ENST00000391854.2 - 3 545 c.92G>A c.(91-93)aGg>aAg p.R31K GNG4_ENST00000450593.1_Missense_Mutation_p.R31K|GNG4_ENST00000366597.1_Missense_Mutation_p.R31K|GNG4_ENST00000366598.4_Missense_Mutation_p.R31K|GNG4_ENST00000484517.1_5'UTR NM_001098722.1|NM_004485.3 NP_001092192.1|NP_004476.1 P50150 GBG4_HUMAN guanine nucleotide binding protein (G protein), gamma 4 31 cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|negative regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission heterotrimeric G-protein complex signal transducer activity NS(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1) 8 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00168)|Prostate(94;0.0776)|Acute lymphoblastic leukemia(190;0.23) OV - Ovarian serous cystadenocarcinoma(106;0.000882) TACCTTGACCCTGTCCATACA 0.517000 98 41 0 0 1 0 0 EXTL2 2135 broad.mit.edu 37 1 101339918 101339918 + Silent SNP A A G TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:101339918A>G ENST00000370114.3 - 5 2009 c.573T>C c.(571-573)agT>agC p.S191S EXTL2_ENST00000370113.3_Silent_p.S191S|EXTL2_ENST00000535414.1_Silent_p.S178S NM_001033025.2|NM_001261440.1 NP_001028197.1|NP_001248369.1 Q9UBQ6 EXTL2_HUMAN exostosin-like glycosyltransferase 2 191 N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1) 14 all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946) Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195) AACTTCCATAACTGTAGATAC 0.383000 33 16 0 0 1 0 0 OR52A1 23538 broad.mit.edu 37 11 5172775 5172775 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:5172775G>A ENST00000380367.1 - 2 1242 c.825C>T c.(823-825)atC>atT p.I275I OR52A1_ENST00000328942.1_Silent_p.I275I Q9UKL2 O52A1_HUMAN olfactory receptor, family 52, subfamily A, member 1 275 sensory perception of smell integral to plasma membrane olfactory receptor activity breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 19 Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGAGAATATGGATATAAGGGG 0.433000 41 59 0 0 1 0 0 P2RY10 27334 broad.mit.edu 37 X 78216755 78216755 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chrX:78216755C>T ENST00000171757.2 + 4 1018 c.738C>T c.(736-738)ttC>ttT p.F246F P2RY10_ENST00000544091.1_Silent_p.F246F NM_014499.2 NP_055314.1 O00398 P2Y10_HUMAN purinergic receptor P2Y, G-protein coupled, 10 246 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2) 42 GGATGGTGTTCATGTGTGCTG 0.443000 28 6 0 0 1 0 0 CYP4F3 4051 broad.mit.edu 37 19 15770125 15770125 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:15770125C>T ENST00000221307.7 + 13 1541 c.1493C>T c.(1492-1494)cCc>cTc p.P498L CYP4F3_ENST00000586182.1_Missense_Mutation_p.P498L|CYP4F3_ENST00000591058.1_Missense_Mutation_p.P498L|CYP4F3_ENST00000585846.1_Missense_Mutation_p.P498L NM_000896.2 NP_000887.2 Q08477 CP4F3_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 3 498 leukotriene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1) 34 CACACCGAGCCCCGCAGGAAG 0.672000 11 19 0 0 1 0 0 KRT5 3852 broad.mit.edu 37 12 52908853 52908853 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:52908853C>T ENST00000252242.4 - 9 2036 c.1646G>A c.(1645-1647)gGg>gAg p.G549E NM_000424.3 NP_000415.2 P13647 K2C5_HUMAN keratin 5 549 Ser-rich.|Tail. epidermis development|hemidesmosome assembly cytosol|keratin filament protein binding|structural constituent of cytoskeleton endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2) 35 BRCA - Breast invasive adenocarcinoma(357;0.189) GCCAGAGCCCCCCACACTGAG 0.657000 16 35 0 0 1 0 0 CA10 56934 broad.mit.edu 37 17 49710905 49710905 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr17:49710905G>A ENST00000451037.2 - 8 1836 c.896C>T c.(895-897)aCc>aTc p.T299I CA10_ENST00000442502.2_Missense_Mutation_p.T299I|CA10_ENST00000340813.6_Missense_Mutation_p.T305I|CA10_ENST00000570565.1_Missense_Mutation_p.T224I|CA10_ENST00000285273.4_Missense_Mutation_p.T299I NM_020178.4 NP_064563.1 Q9NS85 CAH10_HUMAN carbonic anhydrase X 299 brain development cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(22;4.74e-06) GTTGATATTGGTGCGGATGCA 0.527000 37 41 0 0 1 0 0 FGF18 8817 broad.mit.edu 37 5 170883792 170883792 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:170883792C>T ENST00000274625.5 + 5 1151 c.607C>T c.(607-609)Ccc>Tcc p.P203S NM_003862.2 NP_003853.1 O76093 FGF18_HUMAN fibroblast growth factor 18 203 cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell proliferation extracellular space|nucleolus growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1) 9 Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TCGGATCCGGCCCACACACCC 0.602000 47 42 0 0 1 0 0 LAMA2 3908 broad.mit.edu 37 6 129371135 129371135 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:129371135G>A ENST00000421865.2 + 2 234 c.185G>A c.(184-186)gGa>gAa p.G62E NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 62 Laminin N-terminal. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) GGAGAAAAAGGACCTGAAATG 0.453000 16 49 0 0 1 0 0 RPTN 126638 broad.mit.edu 37 1 152127867 152127867 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:152127867G>A ENST00000316073.3 - 3 1772 c.1708C>T c.(1708-1710)Cat>Tat p.H570Y NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 570 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 TGACCATAATGATAGCTCTGG 0.488000 500 238 0 0 1 0 0 LINGO4 339398 broad.mit.edu 37 1 151775058 151775058 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:151775058G>A ENST00000368820.3 - 2 1060 c.123C>T c.(121-123)ccC>ccT p.P41P NM_001004432.2 NP_001004432.1 Q6UY18 LIGO4_HUMAN leucine rich repeat and Ig domain containing 4 41 LRRNT. integral to membrane breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 21 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) GCACAGCCTGGGGCTGGGAGG 0.667000 15 6 0 0 1 0 0 ENPEP 2028 broad.mit.edu 37 4 111464204 111464204 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr4:111464204G>A ENST00000265162.5 + 13 2320 c.1978G>A c.(1978-1980)Gat>Aat p.D660N NM_001977.3 NP_001968.3 Q07075 AMPE_HUMAN glutamyl aminopeptidase (aminopeptidase A) 660 cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) AAGTCTTATTGATGATGCTTT 0.318000 53 27 0 0 1 0 0 CDK8 1024 broad.mit.edu 37 13 26927934 26927934 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr13:26927934C>T ENST00000381527.3 + 4 876 c.373C>T c.(373-375)Cgg>Tgg p.R125W CDK8_ENST00000536792.1_Missense_Mutation_p.R125W NM_001260.1 NP_001251.1 P49336 CDK8_HUMAN cyclin-dependent kinase 8 125 Protein kinase. regulation of transcription, DNA-dependent|transcription, DNA-dependent mediator complex ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 25 Colorectal(5;0.000442) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188) TCAGTTACCTCGGGGAATGGT 0.373000 15 9 0 0 1 0 0 DIP2A 23181 broad.mit.edu 37 21 47971644 47971644 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr21:47971644C>T ENST00000318711.7 + 24 3123 c.2940C>T c.(2938-2940)gaC>gaT p.D980D DIP2A_ENST00000427143.2_Silent_p.D915D|DIP2A_ENST00000417564.2_Silent_p.D979D|DIP2A_ENST00000400274.1_Silent_p.D975D NM_001146116.1|NM_015151.3 NP_001139588.1|NP_055966.2 Q14689 DIP2A_HUMAN DIP2 disco-interacting protein 2 homolog A (Drosophila) 979 multicellular organismal development nucleus catalytic activity|transcription factor binding cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) AGGACAGCGACCAGGCACGGA 0.637000 7 18 0 0 1 0 0 CCDC150 284992 broad.mit.edu 37 2 197586282 197586282 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:197586282G>A ENST00000389175.4 + 21 2431 c.2296G>A c.(2296-2298)Gaa>Aaa p.E766K CCDC150_ENST00000272831.7_Missense_Mutation_p.E413K|CCDC150_ENST00000409270.1_Missense_Mutation_p.E253K|CCDC150_ENST00000487663.1_3'UTR NM_001080539.1 NP_001074008.1 Q8NCX0 CC150_HUMAN coiled-coil domain containing 150 766 breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 33 TGTAGCTAGAGAAGACAACAG 0.388000 9 8 0 0 1 0 0 IKZF4 64375 broad.mit.edu 37 12 56426979 56426979 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:56426979G>A ENST00000262032.5 + 11 1238 c.871G>A c.(871-873)Gaa>Aaa p.E291K IKZF4_ENST00000431367.2_Missense_Mutation_p.E189K|IKZF4_ENST00000547791.1_Missense_Mutation_p.E246K|RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000547167.1_Missense_Mutation_p.E291K Q9H2S9 IKZF4_HUMAN IKAROS family zinc finger 4 (Eos) 291 negative regulation of transcription, DNA-dependent nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1) 8 UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123) ACTAGGTGACGAAATACGTGA 0.542000 11 40 0 0 1 0 0 SIGLECL1 284369 broad.mit.edu 37 19 51770777 51770777 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:51770777G>A ENST00000316401.7 + 5 942 c.561G>A c.(559-561)cgG>cgA p.R187R SIGLECL1_ENST00000597824.1_Silent_p.R93R|SIGLECL1_ENST00000593968.1_3'UTR|CTD-3187F8.2_ENST00000597569.1_RNA NM_173635.1 NP_775906.1 SIGLEC family like 1 CTGAGAGCCGGATATTGGTAT 0.438000 42 44 0 0 1 0 0 TMPRSS7 344805 broad.mit.edu 37 3 111799810 111799810 + Nonsense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:111799810G>A ENST00000452346.2 + 18 2414 c.2411G>A c.(2410-2412)tGg>tAg p.W804* TMPRSS7_ENST00000419127.1_Nonsense_Mutation_p.W678* Q7RTY8 TMPS7_HUMAN transmembrane protease, serine 7 804 Peptidase S1. proteolysis integral to membrane|plasma membrane serine-type endopeptidase activity breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 GATGGAAAATGGATTTTGACT 0.403000 39 56 0 0 1 0 0 ABCF1 23 broad.mit.edu 37 6 30557643 30557643 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:30557643G>A ENST00000326195.8 + 22 2237 c.2125G>A c.(2125-2127)Gag>Aag p.E709K ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Missense_Mutation_p.E671K NM_001025091.1 NP_001020262.1 Q8NE71 ABCF1_HUMAN ATP-binding cassette, sub-family F (GCN20), member 1 709 ABC transporter 2. inflammatory response|translational initiation nuclear envelope|nucleoplasm|polysomal ribosome ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2) 21 GACGCCCACTGAGTACCTGCA 0.597000 104 87 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196620890 196620890 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:196620890C>T ENST00000312428.6 - 62 11653 c.11553G>A c.(11551-11553)gtG>gtA p.V3851V DNAH7_ENST00000409063.1_Silent_p.V334V NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3851 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 GGAAGTCATTCACATAGCTGC 0.383000 8 30 0 0 1 0 0 VARS 7407 broad.mit.edu 37 6 31747065 31747065 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:31747065G>A ENST00000375663.3 - 29 3845 c.3405C>T c.(3403-3405)ttC>ttT p.F1135F NM_006295.2 NP_006286.1 P26640 SYVC_HUMAN valyl-tRNA synthetase 1135 translational elongation|valyl-tRNA aminoacylation cytosol ATP binding|protein binding|valine-tRNA ligase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 30 L-Valine(DB00161) CCACTTCCAGGAAACCTGCCA 0.662000 18 20 0 0 1 0 0 CSRNP1 64651 broad.mit.edu 37 3 39184651 39184651 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:39184651G>A ENST00000273153.5 - 5 1842 c.1665C>T c.(1663-1665)tcC>tcT p.S555S CSRNP1_ENST00000514182.1_Silent_p.S555S NM_033027.3 NP_149016.2 Q96S65 CSRN1_HUMAN cysteine-serine-rich nuclear protein 1 555 apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3) 24 AGCCCATGAGGGACTCCAGGA 0.597000 37 50 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36873775 36873775 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:36873775G>A ENST00000301807.6 - 21 7414 c.5517C>T c.(5515-5517)ttC>ttT p.F1839F TRANK1_ENST00000428977.2_Silent_p.F1839F|TRANK1_ENST00000429976.2_Silent_p.F2389F NM_014831.2 NP_055646.2 O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 2389 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 GGACATTCATGAAACGGAAAA 0.493000 40 68 0 0 1 0 0 MSRB3 253827 broad.mit.edu 37 12 65857044 65857044 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:65857044C>T ENST00000308259.5 + 7 774 c.500C>T c.(499-501)aCc>aTc p.T167I MSRB3_ENST00000535664.1_Missense_Mutation_p.T167I|MSRB3_ENST00000355192.3_Missense_Mutation_p.T174I NM_001031679.2|NM_001193460.1 NP_001026849.1|NP_001180389.1 Q8IXL7 MSRB3_HUMAN methionine sulfoxide reductase B3 174 protein repair endoplasmic reticulum|mitochondrion peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1) 13 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.131) AGCAGTGGCACCGCCGAGGGA 0.537000 36 32 0 0 1 0 0 ITSN2 50618 broad.mit.edu 37 2 24509190 24509190 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:24509190G>A ENST00000355123.4 - 16 2197 c.1754C>T c.(1753-1755)tCa>tTa p.S585L ITSN2_ENST00000361999.3_Missense_Mutation_p.S585L|ITSN2_ENST00000406921.3_Missense_Mutation_p.S585L NM_006277.2 NP_006268.2 Q9NZM3 ITSN2_HUMAN intersectin 2 585 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) CTTTTCTAATGATTTTTTATG 0.323000 18 16 0 0 1 0 0 RP11-337C18.8 0 broad.mit.edu 37 1 146650172 146650172 + RNA SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:146650172C>T ENST00000607149.1 + 0 350 TAGGTTTTTTCGATGATTCAT 0.438000 15 66 0 0 1 0 0 TCTN2 79867 broad.mit.edu 37 12 124191384 124191384 + Silent SNP C C T rs139902134 TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:124191384C>T ENST00000303372.5 + 16 2009 c.1881C>T c.(1879-1881)ccC>ccT p.P627P TCTN2_ENST00000426174.2_Silent_p.P626P NM_001143850.2|NM_024809.4 NP_001137322.1|NP_079085.2 Q96GX1 TECT2_HUMAN tectonic family member 2 627 cilium assembly|smoothened signaling pathway integral to membrane breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 30 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451) CACAGTTACCCCACCCCCTGA 0.433000 11 38 0 0 1 0 0 OR5D13 390142 broad.mit.edu 37 11 55540972 55540972 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:55540972C>T ENST00000361760.1 + 1 59 c.59C>T c.(58-60)tCa>tTa p.S20L NM_001001967.1 NP_001001967.1 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, member 13 20 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1) 40 all_epithelial(135;0.196) TTGGGTTTTTCAGAATACCCA 0.383000 45 66 0 0 1 0 0 ZNF804A 91752 broad.mit.edu 37 2 185802564 185802564 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:185802564G>A ENST00000302277.6 + 4 3035 c.2441G>A c.(2440-2442)cGa>cAa p.R814Q NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 814 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 AAACGGAGGCGAAAAAGAGGC 0.398000 31 29 0 0 1 0 0 PLCL2 23228 broad.mit.edu 37 3 17131373 17131373 + Missense_Mutation SNP C C T rs144997343 TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:17131373C>T ENST00000418129.2 + 6 3440 c.2975C>T c.(2974-2976)cCc>cTc p.P992L PLCL2_ENST00000432376.1_Missense_Mutation_p.P992L NM_001144382.1 NP_001137854.1 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 1118 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 43 GAAGTCATACCCGAAAAAGCA 0.423000 18 24 0 0 1 0 0 PIGV 55650 broad.mit.edu 37 1 27121369 27121369 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:27121369G>A ENST00000374145.1 + 3 1526 c.844G>A c.(844-846)Gac>Aac p.D282N PIGV_ENST00000449950.2_Missense_Mutation_p.D54N|PIGV_ENST00000078527.4_Missense_Mutation_p.D282N NM_001202554.1 NP_001189483.1 Q9NUD9 PIGV_HUMAN phosphatidylinositol glycan anchor biosynthesis, class V 282 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane glycolipid mannosyltransferase activity NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2) 14 all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227) GTTAGCTGTAGACAAGGGCTA 0.507000 49 243 0 0 1 0 0 PCMTD1 115294 broad.mit.edu 37 8 52733173 52733173 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:52733173C>T ENST00000360540.5 - 7 1218 c.812G>A c.(811-813)aGg>aAg p.R271K PCMTD1_ENST00000522514.1_Missense_Mutation_p.R271K|PCMTD1_ENST00000544451.1_Missense_Mutation_p.R195K|PCMTD1_ENST00000519559.1_5'UTR NM_052937.2 NP_443169.2 Q96MG8 PCMD1_HUMAN protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 271 cytoplasm protein-L-isoaspartate (D-aspartate) O-methyltransferase activity p.R271M(2) NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1) 37 Lung NSC(129;0.0795)|all_lung(136;0.144) GGGTGGAGCCCTTTGAGGAAT 0.423000 11 144 0 0 1 0 0 MREG 55686 broad.mit.edu 37 2 216809596 216809596 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:216809596G>A ENST00000263268.6 - 5 930 c.635C>T c.(634-636)cCa>cTa p.P212L NM_018000.2 NP_060470.2 Q8N565 MREG_HUMAN melanoregulin 212 apical plasma membrane large_intestine(1)|lung(2) 3 Renal(323;0.0328) Epithelial(149;4.64e-07)|all cancers(144;5.56e-05)|LUSC - Lung squamous cell carcinoma(224;0.00832)|Lung(261;0.0111) TTAGGGACTTGGAAACGGAAG 0.498000 14 23 0 0 1 0 0 NLRP14 338323 broad.mit.edu 37 11 7083595 7083595 + Missense_Mutation SNP T T G TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:7083595T>G ENST00000299481.4 + 10 3182 c.2836T>G c.(2836-2838)Tgt>Ggt p.C946G NM_176822.3 NP_789792.1 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 946 cell differentiation|multicellular organismal development|spermatogenesis ATP binding breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 21 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) TAATGCATGTTGTCTGGATCT 0.403000 30 54 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61956365 61956365 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr10:61956365G>A ENST00000280772.1 - 15 1899 c.1708C>T c.(1708-1710)Cat>Tat p.H570Y ANK3_ENST00000373827.2_Missense_Mutation_p.H564Y|ANK3_ENST00000503366.1_Missense_Mutation_p.H553Y NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 570 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 GCTGCCACATGAAGAGGAGTA 0.388000 9 4 0 0 1 0 0 CNGB3 54714 broad.mit.edu 37 8 87751949 87751949 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:87751949C>T ENST00000320005.5 - 2 192 c.145G>A c.(145-147)Gaa>Aaa p.E49K CNGB3_ENST00000519777.1_5'UTR|RP11-386D6.1_ENST00000519041.1_RNA NM_019098.4 NP_061971.3 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 49 signal transduction|visual perception integral to membrane cGMP binding NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 80 GATTTCTCTTCACCTTTGTTT 0.323000 15 19 0 0 1 0 0 PRDM9 56979 broad.mit.edu 37 5 23524449 23524449 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:23524449G>A ENST00000296682.3 + 10 1139 c.957G>A c.(955-957)gtG>gtA p.V319V NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 319 SET. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 CCAGGTATGTGAACTGTGCCC 0.542000 HNSCC(3;0.000094) 22 52 0 0 1 0 0 FREM1 158326 broad.mit.edu 37 9 14775954 14775954 + Nonsense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr9:14775954G>A ENST00000380881.4 - 26 5508 c.4693C>T c.(4693-4695)Caa>Taa p.Q1565* FREM1_ENST00000380880.3_Nonsense_Mutation_p.Q1564*|FREM1_ENST00000422223.2_Nonsense_Mutation_p.Q1564*|FREM1_ENST00000380894.1_Nonsense_Mutation_p.Q100* Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 1564 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) AAATTGTGTTGAAGTAGCCCT 0.562000 57 19 0 0 1 0 0 MIB2 142678 broad.mit.edu 37 1 1559299 1559299 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:1559299C>T ENST00000357210.4 + 4 783 c.567C>T c.(565-567)gaC>gaT p.D189D MIB2_ENST00000378710.3_Silent_p.D189D|MIB2_ENST00000504599.1_Silent_p.D145D|MIB2_ENST00000378708.1_Silent_p.D131D|MIB2_ENST00000355826.5_Silent_p.D232D|MIB2_ENST00000378712.1_Silent_p.D131D|MIB2_ENST00000520777.1_Silent_p.D246D|MIB2_ENST00000518681.1_Silent_p.D246D|MIB2_ENST00000360522.4_Silent_p.D189D|MIB2_ENST00000512004.1_3'UTR|MIB2_ENST00000505820.2_Silent_p.D246D NM_080875.2 NP_543151.2 Q96AX9 MIB2_HUMAN mindbomb E3 ubiquitin protein ligase 2 189 Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade endosome actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1) 18 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) ACGCCTTCGACCGCTACGAGA 0.687000 13 7 0 0 1 0 0 TMEM132B 114795 broad.mit.edu 37 12 126068437 126068437 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:126068437C>T ENST00000299308.3 + 5 1327 c.1319C>T c.(1318-1320)cCt>cTt p.P440L NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 440 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) ACTGGAAAGCCTGTTTCAGTT 0.522000 46 139 0 0 1 0 0 HCK 3055 broad.mit.edu 37 20 30662441 30662441 + Nonsense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr20:30662441G>A ENST00000534862.1 + 6 648 c.285G>A c.(283-285)tgG>tgA p.W95* HCK_ENST00000518730.1_Nonsense_Mutation_p.W93*|HCK_ENST00000375852.2_Nonsense_Mutation_p.W115*|HCK_ENST00000538448.1_Nonsense_Mutation_p.W94*|HCK_ENST00000520553.1_Nonsense_Mutation_p.W94*|HCK_ENST00000375862.2_Nonsense_Mutation_p.W114* NM_001172132.1 NP_001165603.1 P08631 HCK_HUMAN hemopoietic cell kinase 115 SH3. interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction caveola|cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4) 36 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) GGGAGTGGTGGAAGGCTCGAT 0.547000 11 151 0 0 1 0 0 ASTN1 460 broad.mit.edu 37 1 176992707 176992707 + Splice_Site SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:176992707C>T ENST00000367654.2 - 7 1284 c.1270_splice c.e7-1 p.G424_splice ASTN1_ENST00000361833.2_Splice_Site_p.G424_splice|ASTN1_ENST00000367657.3_Splice_Site_p.G424_splice|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Splice_Site_p.G424_splice O14525 ASTN1_HUMAN astrotactin 1 424 cell migration|neuron cell-cell adhesion integral to membrane p.G424V(1) 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 GAAGCGGCTCCCTGCAGGGTG 0.552000 23 17 0 0 1 0 0 LCN1 3933 broad.mit.edu 37 9 138416708 138416708 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr9:138416708G>A ENST00000263598.2 + 5 496 c.436G>A c.(436-438)Gag>Aag p.E146K LCN1_ENST00000371781.3_Missense_Mutation_p.E146K NM_001252617.1|NM_001252618.1|NM_001252619.1|NM_002297.3 NP_001239546.1|NP_001239547.1|NP_001239548.1|NP_002288.1 P31025 LCN1_HUMAN lipocalin 1 146 proteolysis|response to stimulus|sensory perception of taste extracellular region cysteine-type endopeptidase inhibitor activity|transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5) 13 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155) GGAAGCCTTGGAGGACTTTGA 0.647000 9 7 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209110041 209110041 + Splice_Site SNP A A G TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:209110041A>G ENST00000415913.1 - 5 902 c.e5+1 IDH1_ENST00000446179.1_Splice_Site|IDH1_ENST00000345146.2_Splice_Site O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) AGTCATACATACCTTCAAAGT 0.328000 Mis gliobastoma 23 36 0 0 1 0 0 ASB10 136371 broad.mit.edu 37 7 150878479 150878479 + Silent SNP G G A rs149386099 byFrequency TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:150878479G>A ENST00000422024.1 - 3 911 c.786C>T c.(784-786)acC>acT p.T262T ASB10_ENST00000420175.2_Silent_p.T217T|ASB10_ENST00000434669.1_Silent_p.T262T|ASB10_ENST00000377867.3_Silent_p.T202T|ASB10_ENST00000275838.1_Silent_p.T217T NM_001142459.1 NP_001135931.2 Q8WXI3 ASB10_HUMAN ankyrin repeat and SOCS box containing 10 217 intracellular signal transduction NS(1)|endometrium(2)|lung(7)|skin(2) 12 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CATGCAAAGGGGTCTCCTCTT 0.632000 15 24 0 0 1 0 0 KRT34 3885 broad.mit.edu 37 17 39538602 39538602 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr17:39538602G>A ENST00000394001.1 - 1 53 c.23C>T c.(22-24)cCc>cTc p.P8L NM_021013.3 NP_066293.2 O76011 KRT34_HUMAN keratin 34 8 Head. epidermis development intermediate filament protein binding|structural molecule activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Breast(137;0.000496) ATTAATTGTGGGTGGGGGCTT 0.458000 23 42 0 0 1 0 0 TUBGCP4 27229 broad.mit.edu 37 15 43696745 43696745 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr15:43696745G>A ENST00000564079.1 + 17 2223 c.1983G>A c.(1981-1983)ctG>ctA p.L661L TUBGCP4_ENST00000260383.7_Silent_p.L662L|TUBGCP4_ENST00000399460.3_3'UTR NM_014444.2 NP_055259.2 Q9UGJ1 GCP4_HUMAN tubulin, gamma complex associated protein 4 662 G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole structural constituent of cytoskeleton breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2) 21 all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;3.53e-07) GTGGAACTCTGGGCAGGTAGG 0.408000 14 35 0 0 1 0 0 NEUROD4 58158 broad.mit.edu 37 12 55421006 55421006 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:55421006G>A ENST00000242994.3 + 2 1161 c.783G>A c.(781-783)ggG>ggA p.G261G NM_021191.2 NP_067014.2 Q9HD90 NDF4_HUMAN neuronal differentiation 4 261 amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 41 GCATCAGTGGGAACTTCTCCT 0.502000 34 71 0 0 1 0 0 SELPLG 6404 broad.mit.edu 37 12 109017137 109017137 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:109017137G>A ENST00000388962.3 - 3 1076 c.917C>T c.(916-918)tCt>tTt p.S306F SELPLG_ENST00000550948.1_Missense_Mutation_p.S316F|SELPLG_ENST00000228463.6_Missense_Mutation_p.S332F NM_003006.4 NP_002997.2 Q14242 SELPL_HUMAN selectin P ligand 316 blood coagulation|cellular response to interleukin-6 integral to plasma membrane|membrane fraction bacterial cell surface binding|receptor binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1) 12 CTGCTTCACAGAGATGTGGTC 0.577000 20 17 0 0 1 0 0 GLYATL2 219970 broad.mit.edu 37 11 58602305 58602305 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:58602305C>T ENST00000287275.1 - 6 872 c.482G>A c.(481-483)gGa>gAa p.G161E GLYATL2_ENST00000533636.1_5'UTR|GLYATL2_ENST00000532258.1_Missense_Mutation_p.G161E NM_145016.3 NP_659453.3 Q8WU03 GLYL2_HUMAN glycine-N-acyltransferase-like 2 161 mitochondrion glycine N-acyltransferase activity breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 23 Breast(21;0.0044)|all_epithelial(135;0.0216) Glycine(DB00145) TGAAAAGTTTCCTTCCCTGTG 0.348000 13 18 0 0 1 0 0 GAA 2548 broad.mit.edu 37 17 78082400 78082400 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr17:78082400C>T ENST00000302262.3 + 7 1407 c.1188C>T c.(1186-1188)ttC>ttT p.F396F GAA_ENST00000390015.3_Silent_p.F396F NM_000152.3 NP_000143.2 P10253 LYAG_HUMAN glucosidase, alpha; acid 396 cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis lysosomal membrane carbohydrate binding|maltose alpha-glucosidase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 21 all_neural(118;0.117) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139) Acarbose(DB00284) GGGCCCACTTCCCCCTGGTGA 0.687000 18 30 0 0 1 0 0 GRIP2 80852 broad.mit.edu 37 3 14536360 14536360 + RNA SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:14536360C>T ENST00000273083.3 - 0 3025 Q9C0E4 GRIP2_HUMAN glutamate receptor interacting protein 2 synaptic transmission cytosol|plasma membrane protein binding endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 25 CCTGCAGGACCCTGTCGAAGG 0.602000 12 20 0 0 1 0 0 IGSF9B 22997 broad.mit.edu 37 11 133795856 133795856 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:133795856G>A ENST00000321016.8 - 14 2042 c.1812C>T c.(1810-1812)ttC>ttT p.F604F IGSF9B_ENST00000533871.2_Silent_p.F604F Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 604 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) TTGTAATAGGGAATGCTGCGG 0.642000 3 13 0 0 1 0 0 HYAL3 8372 broad.mit.edu 37 3 50332361 50332361 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:50332361G>A ENST00000336307.1 - 2 945 c.673C>T c.(673-675)Ctt>Ttt p.L225F HYAL3_ENST00000513170.1_Intron|HYAL3_ENST00000359051.3_Missense_Mutation_p.L225F|HYAL3_ENST00000450982.1_Missense_Mutation_p.L225F|HYAL3_ENST00000415204.1_Intron NM_001200029.1|NM_003549.3 NP_001186958.1|NP_003540.2 O43820 HYAL3_HUMAN hyaluronoglucosaminidase 3 225 carbohydrate metabolic process extracellular region|lysosome hyalurononglucosaminidase activity central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) TTGCGGGCAAGGGTGGCTGCA 0.632000 38 56 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39945566 39945566 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:39945566C>T ENST00000564288.1 + 98 22832 c.22055C>T c.(22054-22056)tCc>tTc p.S7352F MACF1_ENST00000372915.3_Missense_Mutation_p.S7222F|MACF1_ENST00000567887.1_Missense_Mutation_p.S7389F|MACF1_ENST00000545844.1_Missense_Mutation_p.S5264F|MACF1_ENST00000361689.2_Missense_Mutation_p.S5264F|MACF1_ENST00000317713.7_Missense_Mutation_p.S5264F|MACF1_ENST00000539005.1_Missense_Mutation_p.S5134F|MACF1_ENST00000289893.4_Missense_Mutation_p.S5772F Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 7222 C-terminal tail (By similarity). 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) GGTCGAAGGTCCAAACCATCT 0.537000 14 68 0 0 1 0 0 CCDC102B 79839 broad.mit.edu 37 18 66564557 66564557 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr18:66564557C>T ENST00000360242.5 + 6 1272 c.1155C>T c.(1153-1155)atC>atT p.I385I CCDC102B_ENST00000319445.6_Silent_p.I385I|CCDC102B_ENST00000358653.5_Silent_p.I385I|CCDC102B_ENST00000584156.1_Silent_p.I385I|CCDC102B_ENST00000577772.1_3'UTR NM_024781.2 NP_079057.2 Q68D86 C102B_HUMAN coiled-coil domain containing 102B 385 breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1) 36 Esophageal squamous(42;0.0559)|Colorectal(73;0.0604) GGCTGAAGATCCAGGTGAAAG 0.388000 55 66 0 0 1 0 0 CUBN 8029 broad.mit.edu 37 10 17142112 17142112 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr10:17142112G>A ENST00000377833.4 - 14 1722 c.1657C>T c.(1657-1659)Ctc>Ttc p.L553F NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 553 CUB 1. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TCATGAGGGAGGCTGGAGCCA 0.428000 20 38 0 0 1 0 0 LAMA2 3908 broad.mit.edu 37 6 129618904 129618904 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:129618904C>T ENST00000421865.2 + 21 2980 c.2931C>T c.(2929-2931)ttC>ttT p.F977F NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 977 Laminin EGF-like 10. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) CTAAGTCATTCGACTGTGAAG 0.502000 24 19 0 0 1 0 0 GPC4 2239 broad.mit.edu 37 X 132458544 132458544 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chrX:132458544C>T ENST00000370828.3 - 3 864 c.340G>A c.(340-342)Gaa>Aaa p.E114K GPC4_ENST00000535467.1_Missense_Mutation_p.E44K NM_001448.2 NP_001439.2 O75487 GPC4_HUMAN glypican 4 114 anatomical structure morphogenesis|cell proliferation anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1) 28 Acute lymphoblastic leukemia(192;0.000127) TCTGCATTTTCAAGTAGTTCT 0.303000 60 66 0 0 1 0 0 SLITRK1 114798 broad.mit.edu 37 13 84453717 84453717 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr13:84453717G>A ENST00000377084.2 - 1 2811 c.1926C>T c.(1924-1926)atC>atT p.I642I NM_052910.1 NP_443142.1 Q96PX8 SLIK1_HUMAN SLIT and NTRK-like family, member 1 642 integral to membrane NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) GGTTCCTCAGGATAAACACGA 0.562000 19 31 0 0 1 0 0 TMEM65 157378 broad.mit.edu 37 8 125335573 125335573 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:125335573G>A ENST00000297632.6 - 4 995 c.461C>T c.(460-462)tCa>tTa p.S154L NM_194291.2 NP_919267.2 Q6PI78 TMM65_HUMAN transmembrane protein 65 154 integral to membrane cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1) 6 Lung NSC(37;1.18e-11)|Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) TGCCATAGTTGAAATTCCCAA 0.254000 3 13 0 0 1 0 0 BPIFB6 128859 broad.mit.edu 37 20 31627211 31627211 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr20:31627211C>T ENST00000349552.1 + 10 959 c.959C>T c.(958-960)cCt>cTt p.P320L NM_174897.2 NP_777557.1 Q8NFQ5 BPIL3_HUMAN BPI fold containing family B, member 6 320 extracellular region lipid binding ATAAAGAAGCCTCCCAAGGTC 0.547000 38 162 0 0 1 0 0 ZBTB39 9880 broad.mit.edu 37 12 57397398 57397398 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:57397398G>A ENST00000300101.2 - 2 1389 c.1304C>T c.(1303-1305)cCc>cTc p.P435L NM_014830.2 NP_055645.1 O15060 ZBT39_HUMAN zinc finger and BTB domain containing 39 435 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1) 16 CCCTGGCAGGGGATCGTTGGG 0.532000 16 28 0 0 1 0 0 OR8H2 390151 broad.mit.edu 37 11 55872708 55872708 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:55872708C>T ENST00000313503.1 + 1 190 c.190C>T c.(190-192)Ctt>Ttt p.L64F NM_001005200.1 NP_001005200.1 Q8N162 OR8H2_HUMAN olfactory receptor, family 8, subfamily H, member 2 64 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L64F(1) breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 61 Esophageal squamous(21;0.00693) GTATTTTTTCCTTACTCACCT 0.423000 HNSCC(53;0.14) 115 161 0 0 1 0 0 ROBO1 6091 broad.mit.edu 37 3 78649406 78649406 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:78649406C>T ENST00000436010.2 - 28 5678 c.4681G>A c.(4681-4683)Gat>Aat p.D1561N ROBO1_ENST00000467549.1_Missense_Mutation_p.D1500N|ROBO1_ENST00000464233.1_Missense_Mutation_p.D1600N|ROBO1_ENST00000495273.1_Missense_Mutation_p.D1555N|ROBO1_ENST00000466906.1_5'UTR Q9Y6N7 ROBO1_HUMAN roundabout, axon guidance receptor, homolog 1 (Drosophila) 1600 activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1) 44 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) GAACTGGGATCTCTGGGATTA 0.378000 23 45 0 0 1 0 0 CYP3A43 64816 broad.mit.edu 37 7 99454460 99454460 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:99454460G>A ENST00000354829.2 + 9 906 c.803G>A c.(802-804)cGa>cAa p.R268Q CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000312017.5_Missense_Mutation_p.R268Q|CYP3A43_ENST00000222382.5_Missense_Mutation_p.R268Q|CYP3A43_ENST00000444905.1_Missense_Mutation_p.R15Q|CYP3A43_ENST00000415413.1_Missense_Mutation_p.R57Q|CYP3A43_ENST00000417625.1_Missense_Mutation_p.R158Q|CYP3A43_ENST00000342499.4_Missense_Mutation_p.R128Q NM_022820.3|NM_057095.1 NP_073731.1|NP_476436.1 Q9HB55 CP343_HUMAN cytochrome P450, family 3, subfamily A, polypeptide 43 268 Missing (in allele CYP3A43*2). xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1) 19 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) Cetirizine(DB00341)|Doxycycline(DB00254) TTCCAGCATCGAGTAGATTTC 0.433000 30 53 0 0 1 0 0 CLSTN3 9746 broad.mit.edu 37 12 7293876 7293876 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:7293876C>T ENST00000537408.1 + 8 1936 c.1398C>T c.(1396-1398)ctC>ctT p.L466L CLSTN3_ENST00000266546.6_Silent_p.L454L Q9BQT9 CSTN3_HUMAN calsyntenin 3 454 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1) 33 CTCTGAACCTCGAGTTCCCCA 0.567000 OREG0021650 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 111 102 0 0 1 0 0 ST8SIA3 51046 broad.mit.edu 37 18 55020238 55020238 + Missense_Mutation SNP T T C TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr18:55020238T>C ENST00000324000.3 + 1 2195 c.161T>C c.(160-162)aTg>aCg p.M54T NM_015879.2 NP_056963.2 O43173 SIA8C_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 54 glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3) 36 READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205) CGAATGTACATGTTCCACGCG 0.592000 37 51 0 0 1 0 0 COL1A1 1277 broad.mit.edu 37 17 48272128 48272128 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr17:48272128C>T ENST00000225964.5 - 21 1533 c.1415G>A c.(1414-1416)cGa>cAa p.R472Q NM_000088.3 NP_000079.2 P02452 CO1A1_HUMAN collagen, type I, alpha 1 472 Triple-helical region. axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding COL1A1/PDGFB(429) NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 Collagenase(DB00048)|Palifermin(DB00039) GGGTTCACCTCGAGCTCCTCG 0.697000 T """PDGFB, USP6""" """dermatofibrosarcoma protuberans, aneurysmal bone cyst """ Osteogenesis imperfecta 4 4 0 0 1 0 0 OR8H1 219469 broad.mit.edu 37 11 56057777 56057777 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:56057777C>T ENST00000313022.2 - 1 789 c.762G>A c.(760-762)atG>atA p.M254I NM_001005199.1 NP_001005199.1 Q8NGG4 OR8H1_HUMAN olfactory receptor, family 8, subfamily H, member 1 254 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Esophageal squamous(21;0.00448) AAGTAAAAATCATAGTTCCAT 0.368000 25 38 0 0 1 0 0 C3 718 broad.mit.edu 37 19 6694442 6694442 + Splice_Site SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:6694442C>T ENST00000245907.6 - 24 3246 c.3154_splice c.e24+1 p.G1052_splice NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 1052 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) GGGAGCCCACCCTTCTTGATG 0.627000 12 35 0 0 1 0 0 PCNXL4 64430 broad.mit.edu 37 14 60585065 60585065 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr14:60585065C>T ENST00000406854.1 + 7 2151 c.1597C>T c.(1597-1599)Cgt>Tgt p.R533C PCNXL4_ENST00000317623.4_Missense_Mutation_p.R299C|PCNXL4_ENST00000404681.2_Missense_Mutation_p.R533C|PCNXL4_ENST00000406949.1_Missense_Mutation_p.R299C pecanex-like 4 (Drosophila) CATACGTGATCGTTTGATTCA 0.323000 14 2 0 0 1 0 0 HSFY1P1 27437 broad.mit.edu 37 22 17308603 17308603 + RNA SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr22:17308603C>T ENST00000425038.1 + 0 240 NR_003607.1 CCACAAGGATCCTTGATAAAA 0.398000 4 13 0 0 1 0 0 NRAP 4892 broad.mit.edu 37 10 115409833 115409833 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr10:115409833C>T ENST00000369358.4 - 9 1095 c.851G>A c.(850-852)gGc>gAc p.G284D NRAP_ENST00000369360.3_Missense_Mutation_p.G284D|NRAP_ENST00000359988.3_Missense_Mutation_p.G284D|NRAP_ENST00000360478.3_Missense_Mutation_p.G284D Q86VF7 NRAP_HUMAN nebulin-related anchoring protein 284 fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) TGTCAAGATGCCCTCAGCTCC 0.458000 7 95 0 0 1 0 0 ZNF730 100129543 broad.mit.edu 37 19 23328171 23328171 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:23328171G>A ENST00000597761.2 + 4 524 c.325G>A c.(325-327)Gag>Aag p.E109K NM_001277403.1 NP_001264332.1 zinc finger protein 730 p.E109K(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1) 16 ATGTAGACATGAGAATTTACT 0.333000 5 11 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11039183 11039183 + RNA SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr21:11039183G>A ENST00000470054.1 - 0 1020 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) TAGTGGAAGAGTGACAGATTC 0.423000 15 221 0 0 1 0 0 IGSF1 3547 broad.mit.edu 37 X 130410155 130410155 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chrX:130410155G>A ENST00000370904.1 - 21 3559 c.2649C>T c.(2647-2649)atC>atT p.I883I IGSF1_ENST00000467244.1_5'UTR|IGSF1_ENST00000361420.3_Silent_p.I892I|IGSF1_ENST00000370910.1_Silent_p.I883I|IGSF1_ENST00000370903.3_Silent_p.I897I Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 892 Ig-like C2-type 9. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 GGCAGCGCAGGATCACACTCT 0.537000 50 8 0 0 1 0 0 PCDHB8 56128 broad.mit.edu 37 5 140558185 140558185 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:140558185G>A ENST00000239444.2 + 1 815 c.570G>A c.(568-570)agG>agA p.R190R NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 190 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GTGATGGCAGGAAATACCCAG 0.502000 6 70 0 0 1 0 0 PRAMEF1 65121 broad.mit.edu 37 1 12853586 12853586 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:12853586G>A ENST00000332296.7 + 2 313 c.210G>A c.(208-210)atG>atA p.M70I NM_023013.2 NP_075389.1 O95521 PRAM1_HUMAN PRAME family member 1 70 cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GATCACTGATGAAGACGCTTC 0.557000 24 147 0 0 1 0 0 HVCN1 84329 broad.mit.edu 37 12 111089052 111089052 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:111089052G>A ENST00000356742.5 - 5 1366 c.613C>T c.(613-615)Cgg>Tgg p.R205W HVCN1_ENST00000242607.8_Missense_Mutation_p.R205W|HVCN1_ENST00000548312.1_Missense_Mutation_p.R205W|HVCN1_ENST00000439744.2_Missense_Mutation_p.R185W Q96D96 HVCN1_HUMAN hydrogen voltage-gated channel 1 205 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 CGCCACAGCCGGAGCAGAATC 0.602000 3 39 0 0 1 0 0 CALCB 797 broad.mit.edu 37 11 15098834 15098834 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:15098834C>T ENST00000523376.1 + 9 1522 c.260C>T c.(259-261)tCc>tTc p.S87F CALCB_ENST00000533448.1_Missense_Mutation_p.S76F|CALCB_ENST00000324229.6_Missense_Mutation_p.S76F P10092 CALCB_HUMAN calcitonin-related polypeptide beta 76 cellular calcium ion homeostasis|signal transduction|vasodilation extracellular region|soluble fraction neuropeptide hormone activity endometrium(1)|large_intestine(1)|lung(1)|skin(2) 5 CAAATCAGCTCCGCTGCCCAG 0.537000 22 31 0 0 1 0 0 ITGB5 3693 broad.mit.edu 37 3 124567296 124567296 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:124567296G>A ENST00000296181.4 - 4 767 c.471C>T c.(469-471)atC>atT p.I157I ITGB5_ENST00000488466.1_5'UTR NM_002213.3 NP_002204.2 P18084 ITB5_HUMAN integrin, beta 5 157 VWFA. cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction integrin complex receptor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 30 GBM - Glioblastoma multiforme(114;0.163) CCAGGCTCCGGATATTGTCCA 0.532000 59 54 0 0 1 0 0 MICALCL 84953 broad.mit.edu 37 11 12341346 12341346 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:12341346C>T ENST00000256186.2 + 4 1821 c.1530C>T c.(1528-1530)tcC>tcT p.S510S NM_032867.2 NP_116256.2 Q6ZW33 MICLK_HUMAN MICAL C-terminal like 510 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm mitogen-activated protein kinase binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 30 Epithelial(150;0.00177) CCCAGCTTTCCTTGCAGTTAA 0.522000 30 66 0 0 1 0 0 SCN4A 6329 broad.mit.edu 37 17 62018565 62018565 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr17:62018565C>T ENST00000578147.1 - 24 5153 c.5077G>A c.(5077-5079)Gaa>Aaa p.E1693K SCN4A_ENST00000435607.1_Missense_Mutation_p.E1693K P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 1693 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity p.E1693K(1) breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) GCGTCCATTTCCCCAGAGTCA 0.577000 32 44 0 0 1 0 0 INTS5 80789 broad.mit.edu 37 11 62416552 62416552 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:62416552G>A ENST00000330574.2 - 2 1052 c.1000C>T c.(1000-1002)Ctt>Ttt p.L334F NM_030628.1 NP_085131.1 Q6P9B9 INT5_HUMAN integrator complex subunit 5 334 snRNA processing integral to membrane|integrator complex protein binding breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 36 GTGGCCTGAAGGGAGGGGTCC 0.632000 33 135 0 0 1 0 0 SPAM1 6677 broad.mit.edu 37 7 123593772 123593772 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:123593772C>T ENST00000340011.5 + 3 505 c.148C>T c.(148-150)Ctc>Ttc p.L50F SPAM1_ENST00000439500.1_Missense_Mutation_p.L50F|SPAM1_ENST00000402183.2_Missense_Mutation_p.L50F|SPAM1_ENST00000223028.7_Missense_Mutation_p.L50F|SPAM1_ENST00000460182.1_Missense_Mutation_p.L50F NM_003117.4 NP_003108.2 P38567 HYALP_HUMAN sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) 50 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 Hyaluronidase(DB00070) TGTGCCTTTCCTCTGGGCCTG 0.443000 15 18 0 0 1 0 0 MAP3K11 4296 broad.mit.edu 37 11 65366992 65366992 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:65366992G>A ENST00000309100.3 - 9 2564 c.2079C>T c.(2077-2079)tcC>tcT p.S693S MAP3K11_ENST00000534432.1_5'UTR|MAP3K11_ENST00000532507.1_Silent_p.S109S|MAP3K11_ENST00000530153.1_Silent_p.S436S NM_002419.3 NP_002410.1 Q16584 M3K11_HUMAN mitogen-activated protein kinase kinase kinase 11 693 Pro-rich. activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation centrosome|microtubule ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1) 24 AGATGAGCGGGGAAGGGGGCG 0.726000 23 29 0 0 1 0 0 KIAA1217 56243 broad.mit.edu 37 10 24833351 24833351 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr10:24833351C>T ENST00000376451.2 + 14 4461 c.4201C>T c.(4201-4203)Ccg>Tcg p.P1401S KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000376454.3_Missense_Mutation_p.P1718S|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000376462.1_Intron Q5T5P2 SKT_HUMAN KIAA1217 1718 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 CTTGCTAGTTCCGGATGAAGG 0.512000 23 11 0 0 1 0 0 OR52H1 390067 broad.mit.edu 37 11 5566080 5566080 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:5566080G>A ENST00000322653.4 - 1 699 c.674C>T c.(673-675)tCc>tTc p.S225F HBG2_ENST00000380259.2_Intron NM_001005289.1 NP_001005289.1 Q8NGJ2 O52H1_HUMAN olfactory receptor, family 52, subfamily H, member 1 225 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2) 20 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GTGTGCGTAGGAAACAGCAAT 0.512000 17 29 0 0 1 0 0 IGHV3-15 28448 broad.mit.edu 37 14 106610591 106610591 + RNA SNP C C A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr14:106610591C>A ENST00000390603.2 - 0 158 AAGCCTCCCCCAGACTCCACC 0.557000 68 27 3.56841e-20 3.61588e-20 1 1 0 EXOSC10 5394 broad.mit.edu 37 1 11158087 11158087 + Silent SNP A A G TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:11158087A>G ENST00000544779.1 - 2 243 c.238T>C c.(238-240)Ttg>Ctg p.L80L EXOSC10_ENST00000376936.4_Silent_p.L80L|EXOSC10_ENST00000304457.7_Silent_p.L80L Q01780 EXOSX_HUMAN exosome component 10 80 CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin 3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1) 27 Ovarian(185;0.249) Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202) CACTGAAGCAACCTGTCTCCC 0.383000 17 9 0 0 1 0 0 RBM5 10181 broad.mit.edu 37 3 50140565 50140565 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:50140565C>T ENST00000347869.3 + 7 708 c.533C>T c.(532-534)cCc>cTc p.P178L NM_005778.3 NP_005769.1 P52756 RBM5_HUMAN RNA binding motif protein 5 178 RRM 1. apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly nucleoplasm|spliceosomal complex DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2) 19 BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) TATAGCAATCCCAGACCTAAG 0.348000 36 67 0 0 1 0 0 AKAP3 10566 broad.mit.edu 37 12 4736456 4736456 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:4736456G>A ENST00000545990.2 - 5 2136 c.1612C>T c.(1612-1614)Cac>Tac p.H538Y AKAP3_ENST00000228850.1_Missense_Mutation_p.H538Y NM_001278309.1 NP_001265238.1 O75969 AKAP3_HUMAN A kinase (PRKA) anchor protein 3 538 acrosome reaction|cellular component movement acrosomal vesicle protein kinase A binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 51 TGGGCCAGGTGATATTGAATC 0.522000 3 24 0 0 1 0 0 SPATA21 374955 broad.mit.edu 37 1 16736209 16736209 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:16736209G>A ENST00000335496.1 - 6 956 c.474C>T c.(472-474)gtC>gtT p.V158V SPATA21_ENST00000540400.1_Silent_p.V135V|SPATA21_ENST00000466212.1_5'UTR NM_198546.1 NP_940948.1 Q7Z572 SPT21_HUMAN spermatogenesis associated 21 158 Pro-rich. calcium ion binding breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2) 19 Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651) TGGAGGTGGGGACCGGGGCTC 0.692000 5 23 0 0 1 0 0 OR51D1 390038 broad.mit.edu 37 11 4661061 4661061 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:4661061C>T ENST00000357605.2 + 1 117 c.41C>T c.(40-42)tCa>tTa p.S14L NM_001004751.2 NP_001004751.1 Q8NGF3 O51D1_HUMAN olfactory receptor, family 51, subfamily D, member 1 14 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1) 27 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19) ATAGCCACTTCAAATGGAAAT 0.473000 46 72 0 0 1 0 0 SLC25A52 147407 broad.mit.edu 37 18 29339842 29339842 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr18:29339842C>T ENST00000269205.5 - 1 1001 c.813G>A c.(811-813)cgG>cgA p.R271R SLC25A52_ENST00000579441.2_Silent_p.R261R NM_001034172.2 NP_001029344.3 Q3SY17 MCAR2_HUMAN solute carrier family 25, member 52 261 transport integral to membrane|mitochondrial inner membrane GTTTTCTGTCCCGTTCCAGCC 0.408000 10 27 0 0 1 0 0 SIGLEC6 946 broad.mit.edu 37 19 52033753 52033753 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:52033753G>A ENST00000359982.4 - 4 870 c.725C>T c.(724-726)cCt>cTt p.P242L SIGLEC6_ENST00000425629.3_Intron|SIGLEC6_ENST00000436458.1_Intron|SIGLEC6_ENST00000391797.3_Intron|SIGLEC6_ENST00000343300.4_Intron|SIGLEC6_ENST00000346477.3_Intron NM_001177548.1 NP_001171019.1 O43699 SIGL6_HUMAN sialic acid binding Ig-like lectin 6 236 Ig-like C2-type 2. cell adhesion|cell-cell signaling cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1) 28 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165) GGTGGAAAGAGGTGGCCGCCT 0.582000 15 18 0 0 1 0 0 HECW1 23072 broad.mit.edu 37 7 43360272 43360272 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:43360272C>T ENST00000395891.1 + 5 996 c.391C>T c.(391-393)Cgt>Tgt p.R131C HECW1_ENST00000453890.1_Missense_Mutation_p.R131C NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 131 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 CTATAAAAACCGTGGAGTCAA 0.458000 17 19 0 0 1 0 0 SCRN2 90507 broad.mit.edu 37 17 45917580 45917580 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr17:45917580G>A ENST00000407215.3 - 3 414 c.333C>T c.(331-333)gcC>gcT p.A111A SCRN2_ENST00000290216.9_Silent_p.A111A|SCRN2_ENST00000584123.1_Silent_p.A119A Q96FV2 SCRN2_HUMAN secernin 2 111 proteolysis dipeptidase activity cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1) 14 TGCCCAGCAGGGCTTCCCCCT 0.602000 47 53 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21826263 21826263 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:21826263G>A ENST00000328843.6 + 60 9671 c.9640G>A c.(9640-9642)Gcc>Acc p.A3214T DNAH11_ENST00000409508.3_Missense_Mutation_p.A3207T Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 3214 Stalk (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 TGAGCTGAAAGCCTTTCCCAA 0.517000 Kartagener syndrome 34 68 0 0 1 0 0 FUS 2521 broad.mit.edu 37 16 31198144 31198144 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr16:31198144C>T ENST00000254108.7 + 7 891 c.786C>T c.(784-786)ttC>ttT p.F262F FUS_ENST00000568685.1_Silent_p.F262F|FUS_ENST00000380244.3_Silent_p.F261F|FUS_ENST00000474990.1_3'UTR NM_001170634.1|NM_001170937.1|NM_004960.3 NP_001164105.1|NP_001164408.1|NP_004951.1 P35637 FUS_HUMAN fused in sarcoma 262 Gly-rich. cell death|nuclear mRNA splicing, via spliceosome nucleoplasm DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158) breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1) 22 Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121) GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209) GTGGTGGCTTCAATAAATTTG 0.388000 T """DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1""" """liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma""" 28 26 0 0 1 0 0 SAMD9L 219285 broad.mit.edu 37 7 92760570 92760570 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:92760570G>A ENST00000318238.4 - 5 5931 c.4715C>T c.(4714-4716)tCc>tTc p.S1572F SAMD9L_ENST00000437805.1_Missense_Mutation_p.S1572F|SAMD9L_ENST00000411955.1_Missense_Mutation_p.S1572F NM_152703.2 NP_689916.2 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 1572 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) GCCTTCAATGGAAAATCCTAG 0.328000 11 21 0 0 1 0 0 ZNF768 79724 broad.mit.edu 37 16 30536878 30536878 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr16:30536878G>A ENST00000380412.5 - 2 758 c.583C>T c.(583-585)Ctg>Ttg p.L195L ZNF768_ENST00000562803.1_Silent_p.L164L NM_024671.3 NP_078947.3 Q9H5H4 ZN768_HUMAN zinc finger protein 768 195 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1) 15 AAGGAGTCCAGGGGGTGAACT 0.552000 63 81 0 0 1 0 0 WBP11P1 441818 broad.mit.edu 37 18 30092869 30092869 + RNA SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr18:30092869G>A ENST00000567636.1 + 0 1244 NR_003558.1 TGATGAAGATGATTCTGATGA 0.458000 16 15 0 0 1 0 0 C1QTNF9B 387911 broad.mit.edu 37 13 24465894 24465894 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr13:24465894C>T ENST00000382137.3 - 3 604 c.536G>A c.(535-537)gGa>gAa p.G179E C1QTNF9B_ENST00000382057.3_Intron|C1QTNF9B_ENST00000382140.2_Missense_Mutation_p.G179E|C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B_ENST00000556521.1_Intron|C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B_ENST00000382145.1_Intron|C1QTNF9B-AS1_ENST00000417034.1_RNA NM_001007537.1 NP_001007538.1 B2RNN3 C1T9B_HUMAN C1q and tumor necrosis factor related protein 9B 179 Collagen-like 3. collagen breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1) 6 GCCTCTTATTCCCCGGACTCC 0.592000 17 64 0 0 1 0 0 ROR2 4920 broad.mit.edu 37 9 94519599 94519599 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr9:94519599C>T ENST00000375708.3 - 3 616 c.418G>A c.(418-420)Ggg>Agg p.G140R ROR2_ENST00000375715.1_5'UTR|ROR2_ENST00000550066.1_5'UTR NM_004560.3 NP_004551.2 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 140 Ig-like C2-type. negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 GTCTTCATCCCGTTGGTGGCC 0.557000 33 19 0 0 1 0 0 GRIP1 23426 broad.mit.edu 37 12 66859151 66859151 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:66859151G>A ENST00000359742.4 - 8 1016 c.776C>T c.(775-777)cCt>cTt p.P259L GRIP1_ENST00000286445.7_Missense_Mutation_p.P259L|GRIP1_ENST00000398016.3_Missense_Mutation_p.P259L Q9Y3R0 GRIP1_HUMAN glutamate receptor interacting protein 1 259 PDZ 3. androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1) 50 GBM - Glioblastoma multiforme(2;0.00069) GBM - Glioblastoma multiforme(28;0.0933) GCTGGCACCAGGAGTTTTGGC 0.413000 32 23 0 0 1 0 0 TPTE2 93492 broad.mit.edu 37 13 20049728 20049728 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr13:20049728G>A ENST00000400230.2 - 5 259 c.215C>T c.(214-216)tCa>tTa p.S72L TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000382977.4_Missense_Mutation_p.S72L|TPTE2_ENST00000382975.4_Missense_Mutation_p.S72L|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000382978.1_Missense_Mutation_p.S72L|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000390680.2_Intron Q6XPS3 TPTE2_HUMAN transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 72 endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.S72*(1) NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) TGCAAAGGATGATACAATTGA 0.338000 9 24 0 0 1 0 0 LRBA 987 broad.mit.edu 37 4 151837862 151837862 + Nonsense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr4:151837862C>T ENST00000535741.1 - 6 1147 c.674G>A c.(673-675)tGg>tAg p.W225* LRBA_ENST00000510413.1_Nonsense_Mutation_p.W225*|LRBA_ENST00000357115.3_Nonsense_Mutation_p.W225*|LRBA_ENST00000507224.1_Nonsense_Mutation_p.W225* P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and anchor containing 225 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) CTGGTATGGCCATTTGGCTAT 0.318000 20 10 0 0 1 0 0 CDH8 1006 broad.mit.edu 37 16 61935302 61935302 + Nonsense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr16:61935302G>A ENST00000577390.1 - 3 1282 c.328C>T c.(328-330)Caa>Taa p.Q110* CDH8_ENST00000584337.1_Nonsense_Mutation_p.Q110*|CDH8_ENST00000299345.6_Nonsense_Mutation_p.Q110*|CDH8_ENST00000577730.1_Nonsense_Mutation_p.Q110* NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 110 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) TCATTTATTTGAAATATGGTC 0.418000 24 26 0 0 1 0 0 PTPRO 5800 broad.mit.edu 37 12 15733004 15733004 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:15733004G>A ENST00000281171.4 + 21 3282 c.2952G>A c.(2950-2952)atG>atA p.M984I PTPRO_ENST00000348962.2_Missense_Mutation_p.M956I|PTPRO_ENST00000445537.2_Missense_Mutation_p.M173I|PTPRO_ENST00000544244.1_Missense_Mutation_p.M145I|PTPRO_ENST00000442921.2_Missense_Mutation_p.M173I|PTPRO_ENST00000542557.1_Missense_Mutation_p.M145I NM_030667.2 NP_109592.1 Q16827 PTPRO_HUMAN protein tyrosine phosphatase, receptor type, O 984 Tyrosine-protein phosphatase. integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1) 74 Hepatocellular(102;0.244) TAGTCTCCATGAATGAAGAGG 0.363000 13 23 0 0 1 0 0 PLA2G6 8398 broad.mit.edu 37 22 38541473 38541473 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr22:38541473C>T ENST00000332509.3 - 3 580 c.397G>A c.(397-399)Gag>Aag p.E133K PLA2G6_ENST00000335539.3_Missense_Mutation_p.E133K|PLA2G6_ENST00000402064.1_Missense_Mutation_p.E133K NM_003560.2 NP_003551.2 O60733 PA2G6_HUMAN phospholipase A2, group VI (cytosolic, calcium-independent) 133 cardiolipin biosynthetic process|cell death|lipid catabolic process centrosome|membrane breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 24 Melanoma(58;0.045) Quinacrine(DB01103) TGGAAGCACTCGCGGATCCCT 0.607000 12 3 0 0 1 0 0 NBEA 26960 broad.mit.edu 37 13 35644928 35644928 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr13:35644928C>T ENST00000400445.3 + 10 2044 c.1510C>T c.(1510-1512)Cca>Tca p.P504S NBEA_ENST00000379939.2_Missense_Mutation_p.P504S|NBEA_ENST00000540320.1_Missense_Mutation_p.P504S|NBEA_ENST00000310336.4_Missense_Mutation_p.P504S NM_015678.4 NP_056493.3 Q8NFP9 NBEA_HUMAN neurobeachin 504 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) AGTGCTTTTTCCACTTTTTGC 0.343000 57 43 0 0 1 0 0 USP19 10869 broad.mit.edu 37 3 49155168 49155168 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:49155168G>A ENST00000453664.1 - 4 712 c.394C>T c.(394-396)Cgt>Tgt p.R132C USP19_ENST00000398888.2_Missense_Mutation_p.R132C|USP19_ENST00000417901.1_Missense_Mutation_p.R132C|USP19_ENST00000434032.2_Missense_Mutation_p.R132C|USP19_ENST00000398892.3_Missense_Mutation_p.R70C|USP19_ENST00000398896.1_5'UTR|USP19_ENST00000488993.1_5'UTR|USP19_ENST00000398898.2_Missense_Mutation_p.R70C NM_001199161.1|NM_001199162.1 NP_001186090.1|NP_001186091.1 O94966 UBP19_HUMAN ubiquitin specific peptidase 19 132 CS 1. ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy endoplasmic reticulum membrane|integral to membrane ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) ACTCCCACACGAAGCTTGACA 0.532000 43 44 0 0 1 0 0 CCDC77 84318 broad.mit.edu 37 12 549873 549873 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:549873C>T ENST00000239830.4 + 11 1311 c.1132C>T c.(1132-1134)Cgt>Tgt p.R378C CCDC77_ENST00000540180.1_Missense_Mutation_p.R346C|CCDC77_ENST00000412006.2_Missense_Mutation_p.R346C|CCDC77_ENST00000422000.1_Missense_Mutation_p.R346C NM_032358.3 NP_115734.1 Q9BR77 CCD77_HUMAN coiled-coil domain containing 77 378 centrosome cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 19 all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156) OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033) TGCCCGAATTCGTGAGGAAGA 0.433000 11 40 0 0 1 0 0 ST18 9705 broad.mit.edu 37 8 53084992 53084992 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:53084992C>T ENST00000276480.7 - 10 1112 c.429G>A c.(427-429)caG>caA p.Q143Q NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 143 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) CACTTACAGTCTGAACAGATA 0.383000 26 46 0 0 1 0 0 SPECC1L 23384 broad.mit.edu 37 22 24730521 24730521 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr22:24730521C>T ENST00000314328.9 + 9 2825 c.2540C>T c.(2539-2541)tCc>tTc p.S847F SPECC1L_ENST00000437398.1_Missense_Mutation_p.S847F|KB-1896H10.1_ENST00000358654.2_Missense_Mutation_p.S847F|SPECC1L_ENST00000541492.1_Missense_Mutation_p.S847F NM_001254733.1|NM_015330.3 NP_001241662.1|NP_056145.3 Q69YQ0 CYTSA_HUMAN sperm antigen with calponin homology and coiled-coil domains 1-like 847 cell cycle|cell division breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1) 27 CTCATCAAGTCCTTTGACAGT 0.443000 58 61 0 0 1 0 0 RHOT2 89941 broad.mit.edu 37 16 720770 720770 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr16:720770C>T ENST00000315082.4 + 9 750 c.636C>T c.(634-636)ttC>ttT p.F212F RHOT2_ENST00000569943.2_Intron NM_138769.2 NP_620124.1 Q8IXI1 MIRO2_HUMAN ras homolog family member T2 212 EF-hand 1. apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to mitochondrial outer membrane|plasma membrane calcium ion binding|GTP binding|GTPase activity|protein binding endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1) 13 Hepatocellular(780;0.0218) TCAACGCTTTCCAGGTGTGCC 0.662000 30 47 0 0 1 0 0 LRTOMT 220074 broad.mit.edu 37 11 71804597 71804597 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:71804597G>A ENST00000324866.7 + 4 304 c.138G>A c.(136-138)tcG>tcA p.S46S LRTOMT_ENST00000439209.1_Silent_p.S46S|LRTOMT_ENST00000307198.7_5'UTR|LRTOMT_ENST00000419228.1_5'UTR|LRTOMT_ENST00000447974.1_Silent_p.S46S|LRTOMT_ENST00000536917.1_Silent_p.S46S|LRTOMT_ENST00000539587.1_Intron|LRTOMT_ENST00000541614.1_Silent_p.S46S|LRTOMT_ENST00000539271.1_5'UTR|LRTOMT_ENST00000423494.2_Silent_p.S28S|LRTOMT_ENST00000435085.1_5'UTR|LRTOMT_ENST00000538478.1_Silent_p.S46S|LRTOMT_ENST00000289488.2_Silent_p.S46S|LAMTOR1_ENST00000545249.1_Intron NM_001271471.2 NP_001258400.1 Q96E66 LRC51_HUMAN leucine rich transmembrane and O-methyltransferase domain containing 46 cytoplasm large_intestine(2)|lung(1)|ovary(1) 4 GTTCAAAGTCGGGGAAATCAC 0.488000 20 24 0 0 1 0 0 CLCN7 1186 broad.mit.edu 37 16 1507320 1507320 + Missense_Mutation SNP A A G TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr16:1507320A>G ENST00000382745.4 - 9 1362 c.757T>C c.(757-759)Tca>Cca p.S253P CLCN7_ENST00000262318.8_Missense_Mutation_p.S229P|CLCN7_ENST00000448525.1_Missense_Mutation_p.S229P NM_001287.5 NP_001278.1 P51798 CLCN7_HUMAN chloride channel, voltage-sensitive 7 253 integral to membrane|lysosomal membrane antiporter activity|ATP binding|voltage-gated chloride channel activity breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2) 24 Hepatocellular(780;0.0893) ACTGAACCTGAGTGGATCATC 0.567000 37 37 0 0 1 0 0 LOC146880 146880 broad.mit.edu 37 17 62750764 62750764 + RNA SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr17:62750764G>A ENST00000400873.3 - 0 1849 NR_026899.1 TGGCTCTTAGGGCAGGAGTCT 0.448000 38 64 0 0 1 0 0 NES 10763 broad.mit.edu 37 1 156640463 156640463 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:156640463C>T ENST00000368223.3 - 4 3649 c.3517G>A c.(3517-3519)Gag>Aag p.E1173K NM_006617.1 NP_006608.1 P48681 NEST_HUMAN nestin 1173 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TCTGACTCCTCCCTACCCTCC 0.647000 19 125 0 0 1 0 0 JARID2 3720 broad.mit.edu 37 6 15374358 15374358 + Translation_Start_Site SNP A A T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:15374358A>T ENST00000397311.3 + 0 64 JARID2_ENST00000341776.2_Missense_Mutation_p.D19V NM_001267040.1 NP_001253969.1 Q92833 JARD2_HUMAN jumonji, AT rich interactive domain 2 central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent chromatin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 59 Breast(50;0.0142)|Ovarian(93;0.103) all_hematologic(90;0.00612) GATGACAGTGATGGGATTCCG 0.398000 26 148 0 0 1 0 0 PMS2 5395 broad.mit.edu 37 7 6037023 6037023 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:6037023G>A ENST00000265849.7 - 7 842 c.737C>T c.(736-738)cCc>cTc p.P246L PMS2_ENST00000406569.3_Missense_Mutation_p.P246L|PMS2_ENST00000441476.2_Missense_Mutation_p.P140L|PMS2_ENST00000382321.4_Missense_Mutation_p.P246L|PMS2_ENST00000469652.1_Intron NM_000535.5 NP_000526.1 P54278 PMS2_HUMAN PMS2 postmeiotic segregation increased 2 (S. cerevisiae) 246 mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes MutLalpha complex ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15) GTCACTAGGGGGCAGCTGAAC 0.378000 """Mis, N, F""" """colorectal, endometrial, ovarian, medulloblastoma, glioma""" Direct reversal of damage;Mismatch excision repair (MMR) Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 4 20 0 0 1 0 0 RSPO2 340419 broad.mit.edu 37 8 109001376 109001376 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:109001376C>T ENST00000276659.5 - 3 811 c.191G>A c.(190-192)cGa>cAa p.R64Q RSPO2_ENST00000517781.1_Intron|RSPO2_ENST00000517939.1_5'UTR|RSPO2_ENST00000378439.2_Intron NM_178565.4 NP_848660.3 Q6UXX9 RSPO2_HUMAN R-spondin 2 64 Wnt receptor signaling pathway extracellular region heparin binding EIF3E/RSPO2(6) haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 28 OV - Ovarian serous cystadenocarcinoma(57;1.55e-09) CCCTTCTCTTCGAAGGAAGAA 0.478000 27 40 0 0 1 0 0 OR52R1 119695 broad.mit.edu 37 11 4825489 4825489 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:4825489G>A ENST00000380382.1 - 1 358 c.359C>T c.(358-360)gCt>gTt p.A120V MMP26_ENST00000477339.1_Intron|OR52R1_ENST00000356069.2_Missense_Mutation_p.A41V|MMP26_ENST00000380390.1_Intron Q8NGF1 O52R1_HUMAN olfactory receptor, family 52, subfamily R, member 1 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3) 29 Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) TCCAACAACAGCCACAGCATA 0.512000 13 21 0 0 1 0 0 ACSM4 341392 broad.mit.edu 37 12 7470723 7470723 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:7470723G>A ENST00000399422.4 + 5 914 c.866G>A c.(865-867)gGa>gAa p.G289E NM_001080454.1 NP_001073923.1 P0C7M7 ACSM4_HUMAN acyl-CoA synthetase medium-chain family member 4 289 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding endometrium(6)|kidney(1)|lung(14) 21 TGGCTGTGTGGAGCCTGTGTT 0.473000 10 44 0 0 1 0 0 DENND1C 79958 broad.mit.edu 37 19 6468605 6468605 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:6468605C>T ENST00000381480.2 - 21 1679 c.1567G>A c.(1567-1569)Gag>Aag p.E523K DENND1C_ENST00000543576.1_Missense_Mutation_p.E479K NM_024898.2 NP_079174.2 Q8IV53 DEN1C_HUMAN DENN/MADD domain containing 1C 523 clathrin-coated vesicle|cytosol guanyl-nucleotide exchange factor activity endometrium(3)|kidney(3)|large_intestine(1)|lung(3) 10 CCTGGGGGCTCGGAAGTTCCC 0.632000 4 2 0 0 1 0 0 ZNF594 84622 broad.mit.edu 37 17 5087258 5087258 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr17:5087258G>A ENST00000399604.4 - 1 434 c.294C>T c.(292-294)tcC>tcT p.S98S ZNF594_ENST00000575779.1_Silent_p.S98S Q96JF6 ZN594_HUMAN zinc finger protein 594 98 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 CATATCTATGGGAGCTTTCTC 0.373000 26 7 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152432773 152432773 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:152432773G>A ENST00000397345.3 - 106 17002 c.16800C>T c.(16798-16800)atC>atT p.I5600I NEB_ENST00000603639.1_Silent_p.I5600I|NEB_ENST00000604864.1_Silent_p.I5600I|NEB_ENST00000409198.1_Silent_p.I3899I|NEB_ENST00000172853.10_Silent_p.I3899I|NEB_ENST00000427231.2_Silent_p.I5600I NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 5611 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) TGTCACAAAAGATATTCTGGG 0.478000 29 45 0 0 1 0 0 MROH9 80133 broad.mit.edu 37 1 170961317 170961317 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:170961317G>A ENST00000367759.4 + 12 1195 c.1041G>A c.(1039-1041)caG>caA p.Q347Q MROH9_ENST00000367758.3_Silent_p.Q347Q NM_001163629.1 NP_001157101.1 maestro heat-like repeat family member 9 CTCTGATACAGATGTGGAAGG 0.478000 25 9 0 0 1 0 0 ATP4A 495 broad.mit.edu 37 19 36047937 36047937 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:36047937C>T ENST00000262623.3 - 12 1775 c.1747G>A c.(1747-1749)Gac>Aac p.D583N NM_000704.2 NP_000695.2 P20648 ATP4A_HUMAN ATPase, H+/K+ exchanging, alpha polypeptide 583 ATP biosynthetic process|ATP hydrolysis coupled proton transport integral to plasma membrane ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding p.D583N(1) breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 53 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831) GCCTCTACGTCGAAGGCATAG 0.582000 25 54 0 0 1 0 0 IBA57 200205 broad.mit.edu 37 1 228353814 228353814 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:228353814C>T ENST00000366711.3 + 1 299 c.297C>T c.(295-297)ttC>ttT p.F99F NM_001010867.2 NP_001010867.1 Q5T440 CAF17_HUMAN IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae) 99 glycine catabolic process|heme biosynthetic process mitochondrion aminomethyltransferase activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1) 11 ACGCCCACTTCCTGAACGTGC 0.721000 4 1 0 0 1 0 0 EPB41L2 2037 broad.mit.edu 37 6 131216181 131216181 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:131216181G>A ENST00000337057.3 - 9 1496 c.1315C>T c.(1315-1317)Cgt>Tgt p.R439C EPB41L2_ENST00000525193.1_Missense_Mutation_p.R439C|EPB41L2_ENST00000527659.1_Missense_Mutation_p.R439C|EPB41L2_ENST00000392427.3_Missense_Mutation_p.R439C|EPB41L2_ENST00000529208.1_Missense_Mutation_p.R439C|EPB41L2_ENST00000368128.2_Missense_Mutation_p.R439C|EPB41L2_ENST00000528282.1_Missense_Mutation_p.R439C|EPB41L2_ENST00000445890.2_Missense_Mutation_p.R439C|EPB41L2_ENST00000527411.1_Missense_Mutation_p.R439C|EPB41L2_ENST00000525271.1_Missense_Mutation_p.R439C|EPB41L2_ENST00000530481.1_Missense_Mutation_p.R439C NM_001431.3 NP_001422.1 O43491 E41L2_HUMAN erythrocyte membrane protein band 4.1-like 2 439 FERM. 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) CAAGCAAAACGATTGATTCGC 0.413000 24 56 0 0 1 0 0 PCNXL2 80003 broad.mit.edu 37 1 233270915 233270915 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:233270915G>A ENST00000258229.8 - 21 3915 c.3681C>T c.(3679-3681)atC>atT p.I1227I PCNXL2_ENST00000488780.2_Silent_p.I360I|PCNXL2_ENST00000520463.1_5'UTR NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) 1227 integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) TGCCAGCAATGATCATCAGAA 0.413000 23 6 0 0 1 0 0 FAM187B 148109 broad.mit.edu 37 19 35719060 35719060 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:35719060G>A ENST00000324675.3 - 1 572 c.524C>T c.(523-525)gCc>gTc p.A175V NM_152481.1 NP_689694.1 Q17R55 F187B_HUMAN family with sequence similarity 187, member B 175 integral to membrane breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2) 9 GCAGGGCATGGCTTCCTCCAG 0.622000 23 68 0 0 1 0 0 CADPS2 93664 broad.mit.edu 37 7 122078506 122078506 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:122078506C>T ENST00000334010.7 - 16 2789 c.2368G>A c.(2368-2370)Gat>Aat p.D790N RP5-1101C3.1_ENST00000592542.1_RNA|CADPS2_ENST00000412584.2_Missense_Mutation_p.D786N|CADPS2_ENST00000313070.7_Missense_Mutation_p.D786N|CADPS2_ENST00000449022.2_Missense_Mutation_p.D789N NM_001167940.1 NP_001161412.1 Q86UW7 CAPS2_HUMAN Ca++-dependent secretion activator 2 789 Interaction with DRD2. exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2) 43 GTGGCAATATCTTTCATTAAA 0.423000 11 10 0 0 1 0 0 LELP1 149018 broad.mit.edu 37 1 153177379 153177379 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:153177379C>T ENST00000368747.1 + 2 306 c.196C>T c.(196-198)Cct>Tct p.P66S NM_001010857.1 NP_001010857.1 Q5T871 LELP1_HUMAN late cornified envelope-like proline-rich 1 66 Cys/Pro-rich. NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1) 19 all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) CTCGCAGTCTCCTTCATCCTG 0.607000 74 35 0 0 1 0 0 OR8K1 390157 broad.mit.edu 37 11 56114245 56114245 + Missense_Mutation SNP T T C TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:56114245T>C ENST00000279783.2 + 1 825 c.731T>C c.(730-732)tTc>tCc p.F244S NM_001002907.1 NP_001002907.1 Q8NGG5 OR8K1_HUMAN olfactory receptor, family 8, subfamily K, member 1 244 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 Esophageal squamous(21;0.00448) TACAAAGCCTTCTCCACCTGT 0.403000 HNSCC(65;0.19) 6 44 0 0 1 0 0 CNOT7 29883 broad.mit.edu 37 8 17102580 17102580 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:17102580G>A ENST00000361272.4 - 2 380 c.82C>T c.(82-84)Cgt>Tgt p.R28C CNOT7_ENST00000523917.1_Missense_Mutation_p.R28C|CNOT7_ENST00000518885.1_5'UTR NM_013354.5 NP_037486.2 Q9UIV1 CNOT7_HUMAN CCR4-NOT transcription complex, subunit 7 28 carbohydrate metabolic process|nuclear-transcribed mRNA poly(A) tail shortening CCR4-NOT complex|cytoplasmic mRNA processing body|cytosol nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity p.R28C(1) central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6) 11 Colorectal(111;0.0523)|COAD - Colon adenocarcinoma(73;0.209) ATAACTTGACGAATTTTCTTC 0.388000 10 31 0 0 1 0 0 SLC5A7 60482 broad.mit.edu 37 2 108627177 108627177 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:108627177G>A ENST00000264047.2 + 9 1879 c.1603G>A c.(1603-1605)Gaa>Aaa p.E535K SLC5A7_ENST00000409059.1_Missense_Mutation_p.E535K|SLC5A7_ENST00000540517.1_Missense_Mutation_p.E430K NM_021815.2 NP_068587.1 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (sodium/choline cotransporter), member 7 535 acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Choline(DB00122) TGTCAAAAATGAAAATATTAA 0.373000 8 10 0 0 1 0 0 PENK 5179 broad.mit.edu 37 8 57354137 57354137 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:57354137G>A ENST00000314922.3 - 2 574 c.498C>T c.(496-498)aaC>aaT p.N166N PENK_ENST00000523274.1_5'UTR|PENK_ENST00000451791.2_Silent_p.N166N NM_006211.3 NP_006202.1 P01210 PENK_HUMAN proenkephalin 166 neuropeptide signaling pathway extracellular region neuropeptide hormone activity|opioid peptide activity central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 21 all_lung(136;0.229) Epithelial(17;0.000873)|all cancers(17;0.0069) TACGCTCTCGGTTGTCCCCTG 0.537000 36 85 0 0 1 0 0 ZNF396 252884 broad.mit.edu 37 18 32949320 32949320 + Missense_Mutation SNP G G C TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr18:32949320G>C ENST00000306346.1 - 4 998 c.867C>G c.(865-867)agC>agG p.S289R ZNF396_ENST00000589332.1_Missense_Mutation_p.S289R NM_145756.2 NP_665699.1 Q96N95 ZN396_HUMAN zinc finger protein 396 289 viral reproduction cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1) 7 TTGCGCTTCGGCTGAATGCCT 0.453000 22 36 0 0 1 0 0 KIAA1524 57650 broad.mit.edu 37 3 108295125 108295125 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:108295125G>A ENST00000295746.8 - 8 963 c.887C>T c.(886-888)tCt>tTt p.S296F KIAA1524_ENST00000487834.1_5'UTR|KIAA1524_ENST00000491772.1_Missense_Mutation_p.S137F NM_020890.2 NP_065941.2 Q8TCG1 CIP2A_HUMAN KIAA1524 296 cytoplasm|integral to membrane protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 TACCTTTGAAGAGGAATCAGG 0.294000 25 42 0 0 1 0 0 KBTBD11 9920 broad.mit.edu 37 8 1950698 1950698 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:1950698C>T ENST00000320248.3 + 2 2306 c.1340C>T c.(1339-1341)gCc>gTc p.A447V NM_014867.2 NP_055682.1 O94819 KBTBB_HUMAN kelch repeat and BTB (POZ) domain containing 11 447 lung(1)|pancreas(1) 2 Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831) BRCA - Breast invasive adenocarcinoma(11;7.72e-05)|READ - Rectum adenocarcinoma(644;0.0929)|COAD - Colon adenocarcinoma(149;0.134) ggcgccTTCGCCGTGGCGCAT 0.736000 3 7 0 0 1 0 0 HLA-DQA2 3118 broad.mit.edu 37 6 32714114 32714114 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:32714114C>T ENST00000374940.3 + 4 813 c.711C>T c.(709-711)gtC>gtT p.V237V NM_020056.4 NP_064440.1 P01906 DQA2_HUMAN major histocompatibility complex, class II, DQ alpha 2 237 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity endometrium(2)|large_intestine(3)|lung(7)|skin(1) 13 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TGGGCACTGTCTTCATCATCC 0.532000 41 90 0 0 1 0 0 SATB1 6304 broad.mit.edu 37 3 18438769 18438769 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:18438769G>A ENST00000338745.6 - 6 2387 c.653C>T c.(652-654)tCc>tTc p.S218F SATB1_ENST00000417717.2_Missense_Mutation_p.S218F|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000475083.1_5'UTR|SATB1_ENST00000454909.2_Missense_Mutation_p.S218F NM_002971.4 NP_002962.1 Q01826 SATB1_HUMAN SATB homeobox 1 218 cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter nuclear matrix|PML body double-stranded DNA binding|sequence-specific DNA binding NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 32 GTTCACAATGGAAGAAATCAT 0.373000 35 45 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9002184 9002184 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:9002184G>A ENST00000397910.4 - 52 40523 c.40320C>T c.(40318-40320)ttC>ttT p.F13440F MUC16_ENST00000380951.5_Silent_p.F81F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13442 cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.F13440F(1)|p.F125F(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TCTGATGGGTGAAACCTGCAT 0.507000 6 15 0 0 1 0 0 KRT6C 286887 broad.mit.edu 37 12 52864331 52864331 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:52864331C>T ENST00000252250.6 - 6 1208 c.1161G>A c.(1159-1161)atG>atA p.M387I NM_173086.4 NP_775109.2 P48668 K2C6C_HUMAN keratin 6C 387 Coil 2.|Rod. cytoskeleton organization keratin filament structural molecule activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2) 23 BRCA - Breast invasive adenocarcinoma(357;0.0828) GCCTCTGGATCATGCGGTTGA 0.547000 28 49 0 0 1 0 0 CYYR1 116159 broad.mit.edu 37 21 27945291 27945291 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr21:27945291G>A ENST00000435845.2 - 1 312 c.293C>T c.(292-294)cCc>cTc p.P98L CYYR1_ENST00000400043.3_5'UTR|CYYR1_ENST00000299340.4_5'UTR Q96J86 CYYR1_HUMAN cysteine/tyrosine-rich 1 139 integral to membrane large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 15 TGGAGCGAAGGGAGAGCCCGG 0.642000 21 28 0 0 1 0 0 DIDO1 11083 broad.mit.edu 37 20 61542877 61542877 + Nonsense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr20:61542877G>A ENST00000266070.4 - 3 413 c.88C>T c.(88-90)Cga>Tga p.R30* DIDO1_ENST00000354665.4_Nonsense_Mutation_p.R30*|DIDO1_ENST00000370368.1_Nonsense_Mutation_p.R30*|DIDO1_ENST00000395335.2_Nonsense_Mutation_p.R30*|DIDO1_ENST00000266071.5_Nonsense_Mutation_p.R30*|DIDO1_ENST00000395340.1_Nonsense_Mutation_p.R30*|DIDO1_ENST00000395343.1_Nonsense_Mutation_p.R30*|DIDO1_ENST00000370371.4_Nonsense_Mutation_p.R30*|DIDO1_ENST00000370366.1_Nonsense_Mutation_p.R30* NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 30 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) GTGGTCCTTCGAAAACCCCAT 0.617000 3 19 0 0 1 0 0 AXL 558 broad.mit.edu 37 19 41748903 41748903 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:41748903G>A ENST00000301178.4 + 11 1618 c.1428G>A c.(1426-1428)aaG>aaA p.K476K AXL_ENST00000593513.1_Silent_p.K208K|AXL_ENST00000359092.3_Silent_p.K467K NM_001278599.1|NM_021913.3 NP_001265528.1|NP_068713.2 P30530 UFO_HUMAN AXL receptor tyrosine kinase 476 integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 48 ACCGGCGAAAGAAGGAGACCC 0.617000 19 48 0 0 1 0 0 TNR 7143 broad.mit.edu 37 1 175372560 175372560 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:175372560G>A ENST00000367674.1 - 4 1400 c.692C>T c.(691-693)tCc>tTc p.S231F TNR_ENST00000263525.2_Missense_Mutation_p.S231F NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 231 Cys-rich. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) CCGGAGTTCGGAACAGTCATC 0.637000 110 52 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26400815 26400815 + Missense_Mutation SNP G G A rs114090829 by1000genomes TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr22:26400815G>A ENST00000335473.7 + 42 6714 c.6464G>A c.(6463-6465)aGc>aAc p.S2155N MYO18B_ENST00000407587.2_Missense_Mutation_p.S2156N|MYO18B_ENST00000536101.1_Missense_Mutation_p.S2155N NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 2155 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 CGCATCCTCAGCCCCAGGTAA 0.517000 42 64 0 0 1 0 0 PTPN9 5780 broad.mit.edu 37 15 75801285 75801285 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr15:75801285G>A ENST00000306726.2 - 6 1124 c.612C>T c.(610-612)ctC>ctT p.L204L NM_002833.2 NP_002824.1 P43378 PTN9_HUMAN protein tyrosine phosphatase, non-receptor type 9 204 CRAL-TRIO. cytoplasmic part non-membrane spanning protein tyrosine phosphatase activity|protein binding central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 CCTTCAGGAGGAGACTGATGA 0.473000 7 14 0 0 1 0 0 NHSL2 340527 broad.mit.edu 37 X 71359707 71359707 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chrX:71359707C>T ENST00000373677.1 + 2 2473 c.1211C>T c.(1210-1212)tCa>tTa p.S404L NHSL2_ENST00000510661.1_Missense_Mutation_p.S539L|NHSL2_ENST00000535692.1_Missense_Mutation_p.S404L|NHSL2_ENST00000540800.1_Missense_Mutation_p.S770L F5H593 F5H593_HUMAN NHS-like 2 770 NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1) 28 Renal(35;0.156) TCACGGCTATCATTTGACCTA 0.527000 23 1 0 0 1 0 0 LHCGR 3973 broad.mit.edu 37 2 48925816 48925816 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:48925816G>A ENST00000294954.7 - 9 825 c.804C>T c.(802-804)ctC>ctT p.L268L LHCGR_ENST00000344775.3_Intron|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000405626.1_Silent_p.L268L|LHCGR_ENST00000403273.1_Silent_p.L268L|LHCGR_ENST00000401907.1_Silent_p.L268L NM_000233.3 NP_000224.2 P22888 LSHR_HUMAN luteinizing hormone/choriogonadotropin receptor 268 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) TGGCCTCCAGGAGATTGACAA 0.458000 22 22 0 0 1 0 0 ROR2 4920 broad.mit.edu 37 9 94519598 94519598 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr9:94519598C>T ENST00000375708.3 - 3 617 c.419G>A c.(418-420)gGg>gAg p.G140E ROR2_ENST00000375715.1_5'UTR|ROR2_ENST00000550066.1_5'UTR NM_004560.3 NP_004551.2 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 140 Ig-like C2-type. negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 GGTCTTCATCCCGTTGGTGGC 0.557000 33 18 0 0 1 0 0 GRM6 2916 broad.mit.edu 37 5 178418523 178418523 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:178418523C>T ENST00000231188.5 - 3 937 c.759G>A c.(757-759)agG>agA p.R253R GRM6_ENST00000517717.1_Silent_p.R253R NM_000843.3 NP_000834.2 O15303 GRM6_HUMAN glutamate receptor, metabotropic 6 253 detection of visible light|visual perception integral to plasma membrane NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 55 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|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) all cancers(165;0.245) GCTTTGGTTCCCTGGGAATCT 0.592000 91 119 0 0 1 0 0 SPICE1 152185 broad.mit.edu 37 3 113172416 113172416 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:113172416G>A ENST00000295872.4 - 14 2298 c.2039C>T c.(2038-2040)tCa>tTa p.S680L NM_144718.3 NP_653319.1 Q8N0Z3 SPICE_HUMAN spindle and centriole associated protein 1 680 cell division|mitosis centriole|spindle protein binding NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1) 33 CTTGATAGCTGAATTCTGCAA 0.428000 28 65 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9057400 9057400 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:9057400C>T ENST00000397910.4 - 3 30249 c.30046G>A c.(30046-30048)Gaa>Aaa p.E10016K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10018 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CTAGTTTTTTCCACAAAGAGA 0.438000 24 36 0 0 1 0 0 TSLP 85480 broad.mit.edu 37 5 110411643 110411643 + Splice_Site SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:110411643G>A ENST00000420978.2 + 5 1773 c.e5-1 TSLP_ENST00000344895.3_Splice_Site|TSLP_ENST00000379706.4_Splice_Site Q969D9 TSLP_HUMAN thymic stromal lymphopoietin extracellular space cytokine activity breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1) 11 all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109) ATATTCTGCAGATAAATGCTA 0.363000 17 22 0 0 1 0 0 APBB2 323 broad.mit.edu 37 4 41016113 41016113 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr4:41016113G>A ENST00000295974.8 - 6 951 c.322C>T c.(322-324)Cgt>Tgt p.R108C APBB2_ENST00000508593.1_Missense_Mutation_p.R108C|APBB2_ENST00000513140.1_Missense_Mutation_p.R108C|APBB2_ENST00000506352.1_Missense_Mutation_p.R108C NM_001166050.1|NM_004307.1 NP_001159522.1|NP_004298.1 Q92870 APBB2_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 2 108 cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent growth cone|lamellipodium|membrane|nucleus|synapse beta-amyloid binding|transcription factor binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1) 34 GCAGCCTTACGGAGCTGGTTC 0.562000 19 53 0 0 1 0 0 DDI2 84301 broad.mit.edu 37 1 15978205 15978205 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:15978205C>T ENST00000480945.1 + 8 1169 c.998C>T c.(997-999)tCc>tTc p.S333F NM_032341.4 NP_115717.3 Q5TDH0 DDI2_HUMAN DNA-damage inducible 1 homolog 2 (S. cerevisiae) 333 proteolysis aspartic-type endopeptidase activity breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1) 17 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656) TCCAAGTGTTCCATCGACCTG 0.443000 10 43 0 0 1 0 0 TENM2 57451 broad.mit.edu 37 5 167645264 167645264 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:167645264C>T ENST00000519204.1 + 22 4123 c.4005C>T c.(4003-4005)tgC>tgT p.C1335C TENM2_ENST00000545108.1_Silent_p.C1455C|TENM2_ENST00000518659.1_Silent_p.C1456C|TENM2_ENST00000403607.2_Silent_p.C1280C|TENM2_ENST00000520394.1_Silent_p.C1217C teneurin transmembrane protein 2 CCATGCACTGCCAAGTTCCTG 0.507000 80 150 0 0 1 0 0 IGSF21 84966 broad.mit.edu 37 1 18703394 18703394 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:18703394G>A ENST00000251296.1 + 8 1585 c.1202G>A c.(1201-1203)cGg>cAg p.R401Q IGSF21_ENST00000473951.1_3'UTR NM_032880.4 NP_116269.3 Q96ID5 IGS21_HUMAN immunoglobin superfamily, member 21 401 Ig-like 2. extracellular region endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 40 Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157) GTGCTGGAGCGGGTTCCCGCC 0.652000 12 44 0 0 1 0 0 ITIH6 347365 broad.mit.edu 37 X 54784964 54784964 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chrX:54784964C>T ENST00000218436.6 - 8 1572 c.1543G>A c.(1543-1545)Gaa>Aaa p.E515K NM_198510.2 NP_940912.1 Q6UXX5 ITH5L_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 6 515 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ATGCCCAGTTCCTGTTTGCCT 0.622000 17 6 0 0 1 0 0 LGSN 51557 broad.mit.edu 37 6 63990398 63990398 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:63990398G>A ENST00000370657.4 - 4 1091 c.1058C>T c.(1057-1059)gCt>gTt p.A353V LGSN_ENST00000370658.5_3'UTR Q5TDP6 LGSN_HUMAN lengsin, lens protein with glutamine synthetase domain 353 glutamine biosynthetic process glutamate-ammonia ligase activity NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 L-Glutamic Acid(DB00142) GCTGAGCGCAGCAGAGTGCTT 0.502000 38 73 0 0 1 0 0 NUP210L 91181 broad.mit.edu 37 1 154090291 154090291 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:154090291C>T ENST00000368559.3 - 12 1601 c.1530G>A c.(1528-1530)acG>acA p.T510T NUP210L_ENST00000271854.3_Silent_p.T510T NM_207308.2 NP_997191.2 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like 510 integral to membrane NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) CCACTCCTTTCGTGGTTACTA 0.433000 21 73 0 0 1 0 0 DOCK6 57572 broad.mit.edu 37 19 11362811 11362811 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:11362811G>A ENST00000294618.7 - 5 502 c.491C>T c.(490-492)tCc>tTc p.S164F NM_020812.3 NP_065863.2 Q96HP0 DOCK6_HUMAN dedicator of cytokinesis 6 164 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 39 CTCAGGGCCGGACCTCTCGTC 0.617000 5 5 0 0 1 0 0 CHRM3 1131 broad.mit.edu 37 1 240072452 240072452 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:240072452G>A ENST00000255380.4 + 5 2480 c.1701G>A c.(1699-1701)aaG>aaA p.K567K NM_000740.2 NP_000731.1 P20309 ACM3_HUMAN cholinergic receptor, muscarinic 3 567 cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1) 51 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) ACAAAAAAAAGAGGCGCAAGC 0.493000 29 54 0 0 1 0 0 CCDC136 64753 broad.mit.edu 37 7 128445926 128445926 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:128445926C>T ENST00000297788.4 + 7 1427 c.1060C>T c.(1060-1062)Cgg>Tgg p.R354W CCDC136_ENST00000378685.4_Missense_Mutation_p.R392W|CCDC136_ENST00000464832.1_Missense_Mutation_p.R404W|CCDC136_ENST00000487361.1_Missense_Mutation_p.R354W NM_022742.4 NP_073579.4 Q96JN2 CC136_HUMAN coiled-coil domain containing 136 354 integral to membrane protein binding p.R354W(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3) 24 TGAGGTGCTTCGGTTTCAGAC 0.607000 23 33 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21232835 21232835 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:21232835C>T ENST00000233242.1 - 26 7032 c.6905G>A c.(6904-6906)gGa>gAa p.G2302E NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 2302 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) AATTGTAGTTCCCAATTGATC 0.328000 37 55 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9064338 9064338 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:9064338G>A ENST00000397910.4 - 3 23311 c.23108C>T c.(23107-23109)tCc>tTc p.S7703F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7705 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GAATGTGGTGGAAACAGGATG 0.562000 20 44 0 0 1 0 0 UBE3B 89910 broad.mit.edu 37 12 109939175 109939175 + Splice_Site SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:109939175G>A ENST00000342494.3 + 13 1713 c.e13-1 UBE3B_ENST00000280774.5_Splice_Site|UBE3B_ENST00000434735.2_Splice_Site NM_130466.3 NP_569733.2 Q7Z3V4 UBE3B_HUMAN ubiquitin protein ligase E3B protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2) 45 CTCTCTCCTAGCCTTAACGAG 0.542000 91 130 0 0 1 0 0 CDH16 1014 broad.mit.edu 37 16 66946460 66946460 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr16:66946460C>T ENST00000299752.4 - 11 1499 c.1306G>A c.(1306-1308)Gaa>Aaa p.E436K CDH16_ENST00000394055.3_Missense_Mutation_p.E436K|CDH16_ENST00000568632.1_Missense_Mutation_p.E339K|CDH16_ENST00000565796.1_Missense_Mutation_p.E436K|CDH16_ENST00000570262.1_Missense_Mutation_p.E356K NM_001204744.1|NM_001204745.1|NM_004062.3 NP_001191673.1|NP_001191674.1|NP_004053.1 O75309 CAD16_HUMAN cadherin 16, KSP-cadherin 436 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) ACTGCGACTTCGACTTCACAC 0.592000 33 36 0 0 1 0 0 PTPRD 5789 broad.mit.edu 37 9 8486025 8486025 + Missense_Mutation SNP G G T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr9:8486025G>T ENST00000381196.4 - 25 3335 c.2792C>A c.(2791-2793)aCt>aAt p.T931N PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.T918N|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000358503.5_Missense_Mutation_p.T909N|PTPRD_ENST00000540109.1_Missense_Mutation_p.T931N|PTPRD_ENST00000356435.5_Missense_Mutation_p.T931N|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000471274.1_5'UTR NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 931 Fibronectin type-III 7. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) GGAGGTTGAAGTGGTGCCTTC 0.468000 TSP Lung(15;0.13) 17 20 3.45872e-05 3.47239e-05 1 1 0 ZNF536 9745 broad.mit.edu 37 19 31039446 31039446 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:31039446G>A ENST00000355537.3 + 4 3067 c.2920G>A c.(2920-2922)Gaa>Aaa p.E974K NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 974 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) ATCTCAGTATGAACCCCTGGA 0.592000 60 85 0 0 1 0 0 SELV 348303 broad.mit.edu 37 19 40009430 40009430 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:40009430C>T ENST00000423711.1 + 4 985 c.885C>T c.(883-885)ctC>ctT p.L295L SELV_ENST00000335426.4_Silent_p.L295L P59797 SELV_HUMAN 295 cell redox homeostasis selenium binding breast(1)|endometrium(1)|lung(3)|prostate(1) 6 all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159) Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) ATCACCTACTCTTTGTAAGTG 0.577000 17 35 0 0 1 0 0 MAST4 375449 broad.mit.edu 37 5 66350257 66350257 + Silent SNP T T C TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:66350257T>C ENST00000404260.3 + 5 1008 c.700T>C c.(700-702)Tta>Cta p.L234L MAST4_ENST00000490016.2_Silent_p.L45L|MAST4_ENST00000405643.1_Silent_p.L52L|MAST4_ENST00000403625.2_Silent_p.L234L|MAST4_ENST00000261569.7_Silent_p.L40L|MAST4_ENST00000403666.1_Silent_p.L45L O15021 MAST4_HUMAN microtubule associated serine/threonine kinase family member 4 234 cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) CCGGAAAAGCTTAATAGGCAA 0.393000 4 7 0 0 1 0 0 RPS13 6207 broad.mit.edu 37 11 17096727 17096727 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:17096727G>A ENST00000525634.1 - 5 484 c.339C>T c.(337-339)ttC>ttT p.F113F RPS13_ENST00000526895.1_5'UTR|RPS13_ENST00000228140.2_Intron P62277 RS13_HUMAN ribosomal protein S13 113 endocrine pancreas development|negative regulation of RNA splicing|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleolus mRNA binding|protein binding|structural constituent of ribosome haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2) 5 GAATCAGACGGAATTTAGCAT 0.363000 15 30 0 0 1 0 0 PRKD3 23683 broad.mit.edu 37 2 37502923 37502923 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:37502923G>A ENST00000379066.1 - 10 2123 c.1361C>T c.(1360-1362)tCa>tTa p.S454L PRKD3_ENST00000234179.2_Missense_Mutation_p.S454L O94806 KPCD3_HUMAN protein kinase D3 454 PH. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein binding|protein kinase C activity breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 all_hematologic(82;0.21) ATAATACTTTGATCCAGATTC 0.264000 9 13 0 0 1 0 0 MYT1L 23040 broad.mit.edu 37 2 1926121 1926121 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:1926121G>A ENST00000399161.2 - 10 2167 c.1420C>T c.(1420-1422)Ccc>Tcc p.P474S MYT1L_ENST00000428368.2_Missense_Mutation_p.P474S NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 474 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) TCCTCCCCGGGAAGTTGTCTC 0.473000 36 37 0 0 1 0 0 MAPK6 5597 broad.mit.edu 37 15 52339121 52339121 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr15:52339121C>T ENST00000261845.5 + 2 1271 c.464C>T c.(463-465)cCa>cTa p.P155L NM_002748.3 NP_002739.1 Q16659 MK06_HUMAN mitogen-activated protein kinase 6 155 Protein kinase. cell cycle ATP binding|MAP kinase activity breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2) 20 all cancers(107;0.0028) GATCTCAAACCAGCTAATCTT 0.438000 32 35 0 0 1 0 0 MAGEL2 54551 broad.mit.edu 37 15 23889856 23889856 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr15:23889856C>T ENST00000532292.1 - 1 1319 c.1225G>A c.(1225-1227)Gtg>Atg p.V409M NM_019066.4 NP_061939.3 MAGE-like 2 breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177) TGTGCCTCCACCTTGGAATTA 0.582000 17 13 0 0 1 0 0 OR51G1 79324 broad.mit.edu 37 11 4945190 4945190 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:4945190G>A ENST00000321961.2 - 1 447 c.380C>T c.(379-381)gCc>gTc p.A127V MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001005237.1 NP_001005237.1 Q8NGK1 O51G1_HUMAN olfactory receptor, family 51, subfamily G, member 1 127 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1) 25 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) GTTGCAGACGGCCACGTAGCG 0.517000 19 46 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92495274 92495274 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:92495274C>T ENST00000298047.6 + 4 3939 c.3922C>T c.(3922-3924)Cct>Tct p.P1308S FAT3_ENST00000409404.2_Missense_Mutation_p.P1308S|RP11-203F8.1_ENST00000529884.1_RNA|FAT3_ENST00000525166.1_Missense_Mutation_p.P1158S Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 1308 Cadherin 12. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CTTTATTGACCCTAAAACTGG 0.448000 TCGA Ovarian(4;0.039) 32 48 0 0 1 0 0 ARMC4 55130 broad.mit.edu 37 10 28272903 28272903 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr10:28272903C>T ENST00000305242.5 - 6 780 c.688G>A c.(688-690)Gaa>Aaa p.E230K ARMC4_ENST00000239715.3_Missense_Mutation_p.E87K NM_018076.2 NP_060546.2 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 230 binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 TTTGAAAATTCATAATCTGAA 0.388000 16 9 0 0 1 0 0 C2CD3 26005 broad.mit.edu 37 11 73759361 73759361 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:73759361G>A ENST00000334126.7 - 28 5610 c.5384C>T c.(5383-5385)tCc>tTc p.S1795F C2CD3_ENST00000313663.7_Missense_Mutation_p.S1795F Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 1795 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) GGCAGGGAAGGAAAAGGGACT 0.433000 8 18 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39854048 39854048 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:39854048C>T ENST00000564288.1 + 58 16311 c.15534C>T c.(15532-15534)gcC>gcT p.A5178A MACF1_ENST00000372915.3_Silent_p.A5183A|MACF1_ENST00000567887.1_Silent_p.A5215A|MACF1_ENST00000545844.1_Silent_p.A3116A|MACF1_ENST00000361689.2_Silent_p.A3116A|MACF1_ENST00000317713.7_Silent_p.A3116A|MACF1_ENST00000539005.1_Silent_p.A3095A|MACF1_ENST00000289893.4_Silent_p.A3618A Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 5183 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) ACATAGAGGCCTCTGAAGCAG 0.473000 25 15 0 0 1 0 0 CES3 23491 broad.mit.edu 37 16 66997451 66997451 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr16:66997451G>A ENST00000303334.4 + 3 416 c.345G>A c.(343-345)caG>caA p.Q115Q CES3_ENST00000394037.1_Silent_p.Q115Q NM_024922.5 NP_079198.2 Q6UWW8 EST3_HUMAN carboxylesterase 3 115 endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 24 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127) ACGGAAAACAGCAGATCTTCT 0.607000 21 50 0 0 1 0 0 OSBP 5007 broad.mit.edu 37 11 59361107 59361107 + Nonsense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:59361107G>A ENST00000263847.1 - 9 2127 c.1648C>T c.(1648-1650)Cga>Tga p.R550* NM_002556.2 NP_002547.1 P22059 OSBP1_HUMAN oxysterol binding protein 550 lipid transport Golgi membrane oxysterol binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 all_epithelial(135;0.000236) BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207) TATTTGCCTCGAAACTTGCTG 0.478000 37 33 0 0 1 0 0 CCNL2 81669 broad.mit.edu 37 1 1334431 1334431 + Nonsense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:1334431G>A ENST00000400809.3 - 1 261 c.256C>T c.(256-258)Cag>Tag p.Q86* CCNL2_ENST00000408918.4_Nonsense_Mutation_p.Q86* NM_030937.4 NP_112199.2 Q96S94 CCNL2_HUMAN cyclin L2 86 Cyclin-like 1. regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent nuclear speck protein kinase binding central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2) 13 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146) CCGGCCGCCTGGATGAGCTCG 0.716000 27 5 0 0 1 0 0 ST3GAL5 8869 broad.mit.edu 37 2 86090553 86090553 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:86090553G>A ENST00000377332.3 - 2 246 c.138C>T c.(136-138)tcC>tcT p.S46S ST3GAL5_ENST00000525834.2_Silent_p.S46S|ST3GAL5_ENST00000393805.1_Silent_p.S18S|ST3GAL5_ENST00000484728.1_5'UTR|ST3GAL5_ENST00000393808.3_Silent_p.S23S NM_003896.3 NP_003887.3 Q9UNP4 SIAT9_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 5 46 ganglioside biosynthetic process|protein glycosylation integral to Golgi membrane|integral to plasma membrane lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 15 ACCATTGCAGGGAAGGCCTCG 0.512000 23 58 0 0 1 0 0 PCCA 5095 broad.mit.edu 37 13 101077939 101077939 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr13:101077939C>T ENST00000376285.1 + 20 1837 c.1799C>T c.(1798-1800)tCg>tTg p.S600L PCCA_ENST00000376279.3_Missense_Mutation_p.S600L|PCCA_ENST00000376286.4_Missense_Mutation_p.S574L NM_000282.3 NP_000273.2 P05165 PCCA_HUMAN propionyl CoA carboxylase, alpha polypeptide 600 fatty acid beta-oxidation mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2) 26 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Biotin(DB00121) AACCTGGCTTCGCCCTTATTG 0.478000 17 23 0 0 1 0 0 MYO7B 4648 broad.mit.edu 37 2 128389307 128389307 + Missense_Mutation SNP A A T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:128389307A>T ENST00000389524.4 + 37 5206 c.5153A>T c.(5152-5154)cAg>cTg p.Q1718L MYO7B_ENST00000409816.2_Missense_Mutation_p.Q1717L|MYO7B_ENST00000428314.1_Missense_Mutation_p.Q1717L|MYO7B_ENST00000409090.1_Missense_Mutation_p.Q570L Q6PIF6 MYO7B_HUMAN myosin VIIB 1717 MyTH4 2. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 75 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) ATCCTGAAGCAGCTGACGCAC 0.687000 9 22 0 0 1 0 0 UGT2A3 79799 broad.mit.edu 37 4 69817217 69817217 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr4:69817217C>T ENST00000251566.4 - 1 292 c.262G>A c.(262-264)Gaa>Aaa p.E88K NM_024743.3 NP_079019.3 Q6UWM9 UD2A3_HUMAN UDP glucuronosyltransferase 2 family, polypeptide A3 88 integral to membrane glucuronosyltransferase activity p.E88K(1) NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 ACAAATATTTCATTTTCTTCT 0.363000 30 23 0 0 1 0 0 UGT2B11 10720 broad.mit.edu 37 4 70079873 70079873 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr4:70079873G>A ENST00000446444.1 - 1 576 c.568C>T c.(568-570)Cct>Tct p.P190S RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA NM_001073.1 NP_001064.1 O75310 UDB11_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B11 190 estrogen metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 42 TAGGAAGGAGGGAAAATCAGT 0.403000 55 37 0 0 1 0 0 PTCHD2 57540 broad.mit.edu 37 1 11589959 11589959 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:11589959C>T ENST00000294484.6 + 15 3183 c.3045C>T c.(3043-3045)ttC>ttT p.F1015F PTCHD2_ENST00000389575.3_Silent_p.F1015F NM_020780.1 NP_065831.1 Q9P2K9 PTHD2_HUMAN patched domain containing 2 1015 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) TTGTGGTCTTCGGCATTATTG 0.647000 22 107 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25423785 25423785 + RNA SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr15:25423785G>A ENST00000441592.2 + 0 356 GTGCACTTGAGCTCAAGCCCT 0.632000 21 60 0 0 1 0 0 SCARA3 51435 broad.mit.edu 37 8 27528639 27528639 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:27528639G>A ENST00000301904.3 + 6 1612 c.1592G>A c.(1591-1593)gGa>gAa p.G531E SCARA3_ENST00000337221.4_Intron NM_016240.2 NP_057324.2 Q6AZY7 SCAR3_HUMAN scavenger receptor class A, member 3 531 response to oxidative stress|UV protection collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane scavenger receptor activity breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 9 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148) TTTGGAACTGGAGGGCCGAGA 0.682000 4 10 0 0 1 0 0 SLC45A4 57210 broad.mit.edu 37 8 142226067 142226067 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:142226067G>A ENST00000519067.1 - 6 1882 c.1579C>T c.(1579-1581)Ctg>Ttg p.L527L SLC45A4_ENST00000433583.2_Silent_p.L520L|SLC45A4_ENST00000024061.3_Silent_p.L527L|SLC45A4_ENST00000517878.1_Silent_p.L578L Q5BKX6 S45A4_HUMAN solute carrier family 45, member 4 578 transport integral to membrane breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) TTCTGTAACAGGGCTGCAGAG 0.642000 4 21 0 0 1 0 0 ARNT2 9915 broad.mit.edu 37 15 80806740 80806740 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr15:80806740C>T ENST00000533983.1 + 9 1177 c.838C>T c.(838-840)Cca>Tca p.P280S ARNT2_ENST00000527771.1_Missense_Mutation_p.P280S|ARNT2_ENST00000303329.4_Missense_Mutation_p.P291S Q9HBZ2 ARNT2_HUMAN aryl-hydrocarbon receptor nuclear translocator 2 291 central nervous system development|in utero embryonic development|response to hypoxia aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity p.P291T(1) NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1) 35 BRCA - Breast invasive adenocarcinoma(143;0.134) GGCCTGGCCACCAGCAGGTAA 0.478000 58 50 0 0 1 0 0 SLCO6A1 133482 broad.mit.edu 37 5 101795426 101795426 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:101795426G>A ENST00000506729.1 - 5 1126 c.955C>T c.(955-957)Ctt>Ttt p.L319F SLCO6A1_ENST00000513675.1_Intron|SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.L257F|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.L319F|SLCO6A1_ENST00000514551.1_5'UTR Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, member 6A1 319 integral to membrane|plasma membrane transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) GCGGCAAAAAGAAAATTAATC 0.333000 20 21 0 0 1 0 0 KRT3 3850 broad.mit.edu 37 12 53189322 53189322 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:53189322C>T ENST00000417996.2 - 1 579 c.505G>A c.(505-507)Gga>Aga p.G169R KRT3_ENST00000309505.3_Missense_Mutation_p.G169R NM_057088.2 NP_476429.2 P12035 K2C3_HUMAN keratin 3 169 Gly-rich.|Head. epithelial cell differentiation|intermediate filament cytoskeleton organization keratin filament structural molecule activity NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1) 23 TCCTGAATTCCCCCAGGAAAG 0.597000 17 12 0 0 1 0 0 RCN2 5955 broad.mit.edu 37 15 77224705 77224705 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr15:77224705G>A ENST00000394885.3 + 2 371 c.148G>A c.(148-150)Gat>Aat p.D50N RCN2_ENST00000320963.5_Missense_Mutation_p.D50N|RCN2_ENST00000394883.3_Intron NM_002902.2 NP_002893.1 Q14257 RCN2_HUMAN reticulocalbin 2, EF-hand calcium binding domain 50 endoplasmic reticulum lumen calcium ion binding endometrium(2)|kidney(2)|large_intestine(2)|lung(1) 7 CCTAAAGGAAGATGTGGATGA 0.473000 4 12 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 133923722 133923722 + Nonsense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:133923722G>A ENST00000220616.4 + 19 4143 c.4103G>A c.(4102-4104)tGg>tAg p.W1368* TG_ENST00000377869.1_Nonsense_Mutation_p.W1368* NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 1368 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) AATGTTACATGGAAATCACGG 0.478000 40 71 0 0 1 0 0 RAB28 9364 broad.mit.edu 37 4 13378202 13378202 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr4:13378202G>A ENST00000288723.4 - 6 754 c.540C>T c.(538-540)atC>atT p.I180I RAB28_ENST00000330852.5_Silent_p.I180I|RAB28_ENST00000338176.4_Silent_p.I180I NM_004249.3 NP_004240.2 P51157 RAB28_HUMAN RAB28, member RAS oncogene family 180 small GTPase mediated signal transduction plasma membrane GDP binding|GTP binding|GTPase activity endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1) 8 TGTTTAATTTGATCCCAAGGA 0.313000 9 33 0 0 1 0 0 IGLV5-45 28781 broad.mit.edu 37 22 22730818 22730818 + RNA SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr22:22730818C>T ENST00000390296.2 + 0 341 CATCTCTGGGCTCCAGTCTGA 0.517000 54 122 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126319956 126319956 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr4:126319956G>A ENST00000394329.3 + 2 5206 c.5193G>A c.(5191-5193)caG>caA p.Q1731Q FAT4_ENST00000335110.5_Silent_p.Q29Q NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 1731 Cadherin 16. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 TAACACTTCAGGATATCAATG 0.428000 59 39 0 0 1 0 0 FBN2 2201 broad.mit.edu 37 5 127730909 127730909 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:127730909G>A ENST00000508053.1 - 15 2111 c.1137C>T c.(1135-1137)ctC>ctT p.L379L FBN2_ENST00000508989.1_Silent_p.L346L|FBN2_ENST00000262464.4_Silent_p.L379L P35556 FBN2_HUMAN fibrillin 2 379 TB 2. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) TTCTCCCCGGGAGCTCTTGTG 0.532000 16 24 0 0 1 0 0 FER1L6 654463 broad.mit.edu 37 8 124992888 124992888 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:124992888C>T ENST00000522917.1 + 11 1453 c.1247C>T c.(1246-1248)tCc>tTc p.S416F FER1L6_ENST00000399018.1_Missense_Mutation_p.S416F NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 416 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) TCTAAATTTTCCAAGGCCCTG 0.458000 OREG0018964 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 49 75 0 0 1 0 0 CREB3L4 148327 broad.mit.edu 37 1 153945460 153945460 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:153945460G>A ENST00000368607.3 + 6 915 c.649G>A c.(649-651)Gtc>Atc p.V217I CREB3L4_ENST00000405694.3_Missense_Mutation_p.V70I|CREB3L4_ENST00000368603.1_Missense_Mutation_p.V217I|CREB3L4_ENST00000271889.4_Missense_Mutation_p.V217I|CREB3L4_ENST00000468845.1_3'UTR|CREB3L4_ENST00000368601.1_3'UTR|CREB3L4_ENST00000368600.3_Missense_Mutation_p.V197I NM_001255978.1|NM_001255980.1|NM_130898.3 NP_001242907.1|NP_001242909.1|NP_570968.1 Q8TEY5 CR3L4_HUMAN cAMP responsive element binding protein 3-like 4 217 response to unfolded protein endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3) 13 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) AGAGGAGAGGGTCCTCAAGAA 0.582000 81 32 0 0 1 0 0 NIPAL1 152519 broad.mit.edu 37 4 48037042 48037042 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr4:48037042G>A ENST00000295461.5 + 5 672 c.606G>A c.(604-606)atG>atA p.M202I NIPAL1_ENST00000508180.1_3'UTR NM_207330.1 NP_997213.1 Q6NVV3 NIPA3_HUMAN NIPA-like domain containing 1 202 integral to membrane endometrium(2)|large_intestine(1)|lung(3)|skin(2) 8 AAATGGAAATGAAATTGAGAG 0.383000 43 26 0 0 1 0 0 CNTNAP2 26047 broad.mit.edu 37 7 146536850 146536850 + Nonsense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:146536850C>T ENST00000361727.3 + 3 772 c.256C>T c.(256-258)Cag>Tag p.Q86* NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 86 F5/8 type C. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) TCAATGGCTTCAGGTTGACTT 0.473000 HNSCC(39;0.1) 24 46 0 0 1 0 0 ZNF536 9745 broad.mit.edu 37 19 30936114 30936114 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:30936114G>A ENST00000355537.3 + 2 1792 c.1645G>A c.(1645-1647)Gaa>Aaa p.E549K NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 549 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) GCGCAACCACGAAGACACTTT 0.552000 48 70 0 0 1 0 0 CAPN13 92291 broad.mit.edu 37 2 31010083 31010083 + Missense_Mutation SNP C C A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:31010083C>A ENST00000295055.8 - 2 285 c.109G>T c.(109-111)Gat>Tat p.D37Y CAPN13_ENST00000534090.2_Missense_Mutation_p.D37Y|CAPN13_ENST00000465960.2_5'UTR NM_144575.2 NP_653176.2 Q6MZZ7 CAN13_HUMAN calpain 13 37 Calpain catalytic. proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1) 30 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155) AATGTCTCATCCTTAAACGTC 0.532000 3 6 0.115264 0.115466 1 1 0 KLHL38 340359 broad.mit.edu 37 8 124664269 124664269 + Missense_Mutation SNP T T C TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:124664269T>C ENST00000325995.7 - 1 921 c.898A>G c.(898-900)Agg>Ggg p.R300G CTD-2552K11.2_ENST00000524355.1_RNA NM_001081675.2 NP_001075144.2 Q2WGJ6 KLH38_HUMAN kelch-like family member 38 300 breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1) 38 AGGACGTCCCTGGTGGTCTGC 0.567000 24 73 0 0 1 0 0 CBLC 23624 broad.mit.edu 37 19 45303658 45303658 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:45303658C>T ENST00000270279.3 + 10 1446 c.1383C>T c.(1381-1383)tcC>tcT p.S461S CBLC_ENST00000341505.4_Silent_p.S415S NM_012116.3 NP_036248.3 Q9ULV8 CBLC_HUMAN Cbl proto-oncogene C, E3 ubiquitin protein ligase 461 cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Lung NSC(12;0.00136)|all_lung(12;0.00371) Ovarian(192;0.231) AGGGGAACTCCCCTCCAGCTG 0.617000 M AML OREG0025543 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 26 0 0 1 0 0 KLRC3 3823 broad.mit.edu 37 12 10572171 10572171 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:10572171G>A ENST00000381904.2 - 3 307 c.308C>T c.(307-309)tCc>tTc p.S103F KLRC3_ENST00000396439.2_Intron|KLRC3_ENST00000381903.2_Intron|NKG2-E_ENST00000539033.1_Intron killer cell lectin-like receptor subfamily C, member 3 large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 11 TGTATTTGGGGAAGAATTGTT 0.254000 14 16 0 0 1 0 0 TRAV8-1 28685 broad.mit.edu 37 14 22265811 22265811 + RNA SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr14:22265811C>T ENST00000390430.2 + 0 226 CCACGTAATTCTCTCTGAAGC 0.448000 92 21 0 0 1 0 0 ZNF208 7757 broad.mit.edu 37 19 22156665 22156665 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:22156665G>A ENST00000397126.4 - 4 1319 c.1171C>T c.(1171-1173)Cat>Tat p.H391Y ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) TCTCCAGTATGAATTTTCTTA 0.378000 29 12 0 0 1 0 0 MEGF10 84466 broad.mit.edu 37 5 126792924 126792924 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:126792924C>T ENST00000274473.6 + 26 3604 c.3337C>T c.(3337-3339)Ctg>Ttg p.L1113L MEGF10_ENST00000503335.2_Silent_p.L1113L NM_032446.2 NP_115822.1 Q96KG7 MEG10_HUMAN multiple EGF-like-domains 10 1113 Necessary for formation of large intracellular vacuoles. cell adhesion|phagocytosis basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) TCATTATGACCTGCTGCCAGT 0.517000 41 53 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11039366 11039366 + RNA SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr21:11039366G>A ENST00000470054.1 - 0 837 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) CTTCACTTCAGAAGACATTTT 0.353000 18 196 0 0 1 0 0 CACNA2D3 55799 broad.mit.edu 37 3 54930778 54930778 + Missense_Mutation SNP A A T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:54930778A>T ENST00000474759.1 + 26 2297 c.2249A>T c.(2248-2250)gAc>gTc p.D750V CACNA2D3_ENST00000415676.2_Missense_Mutation_p.D750V|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.D656V|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.D750V|CACNA2D3-AS1_ENST00000471265.1_RNA NM_018398.2 NP_060868.2 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 3 750 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) ACTTCAAGGGACTTCCTGAAA 0.507000 38 62 0 0 1 0 0 ABCC4 10257 broad.mit.edu 37 13 95715076 95715076 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr13:95715076G>A ENST00000376887.4 - 26 3362 c.3248C>T c.(3247-3249)tCc>tTc p.S1083F ABCC4_ENST00000412704.1_Missense_Mutation_p.S1036F NM_005845.3 NP_005836.2 O15439 MRP4_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 4 1083 ABC transporter 2. platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) TGAGATGAGGGAACTTTTTCC 0.403000 27 30 0 0 1 0 0 CNTN6 27255 broad.mit.edu 37 3 1269557 1269557 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:1269557G>A ENST00000446702.2 + 4 865 c.238G>A c.(238-240)Gat>Aat p.D80N CNTN6_ENST00000350110.2_Missense_Mutation_p.D80N|CNTN6_ENST00000539053.1_Missense_Mutation_p.D8N Q9UQ52 CNTN6_HUMAN contactin 6 80 Ig-like C2-type 1. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) CTACAGGTTGGATGGAGGCAG 0.413000 27 41 0 0 1 0 0 OCIAD2 132299 broad.mit.edu 37 4 48906539 48906539 + Nonsense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr4:48906539G>A ENST00000508632.1 - 2 260 c.28C>T c.(28-30)Caa>Taa p.Q10* OCIAD2_ENST00000508069.2_5'UTR|OCIAD2_ENST00000273860.4_Nonsense_Mutation_p.Q10* NM_001014446.1 NP_001014446.1 Q56VL3 OCAD2_HUMAN OCIA domain containing 2 10 OCIA. endosome kidney(1)|lung(3)|skin(1)|urinary_tract(1) 6 TCTTTATCTTGGTTTCCACGA 0.443000 20 61 0 0 1 0 0 FER1L6 654463 broad.mit.edu 37 8 125131170 125131170 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:125131170C>T ENST00000522917.1 + 40 5581 c.5375C>T c.(5374-5376)cCc>cTc p.P1792L FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.P1792L NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 1792 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) GAGCCAGAGCCCCTGGCCAAG 0.498000 12 18 0 0 1 0 0 SH2D4A 63898 broad.mit.edu 37 8 19221777 19221777 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:19221777C>T ENST00000265807.3 + 7 1312 c.901C>T c.(901-903)Cct>Tct p.P301S SH2D4A_ENST00000519207.1_Missense_Mutation_p.P301S|SH2D4A_ENST00000518040.1_Missense_Mutation_p.P256S NM_001174160.1|NM_022071.3 NP_001167631.1|NP_071354.2 Q9H788 SH24A_HUMAN SH2 domain containing 4A 301 cytoplasm|nucleus protein binding endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1) 16 Colorectal(111;0.0732) AGGGGCATATCCTCAAAAACC 0.473000 18 32 0 0 1 0 0 HIRA 7290 broad.mit.edu 37 22 19319035 19319035 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr22:19319035G>A ENST00000263208.5 - 25 3238 c.2982C>T c.(2980-2982)atC>atT p.I994I HIRA_ENST00000340170.4_Silent_p.I787I|HIRA_ENST00000541063.1_Silent_p.I950I NM_003325.3 NP_003316.3 P54198 HIRA_HUMAN histone cell cycle regulator 994 Interaction with histone H4. chromatin modification|regulation of transcription from RNA polymerase II promoter PML body chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1) 37 Colorectal(54;0.0993) GGTTCTGCCCGATGACTGGTA 0.587000 14 66 0 0 1 0 0 ACAN 176 broad.mit.edu 37 15 89401560 89401560 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr15:89401560G>A ENST00000439576.2 + 12 6118 c.5744G>A c.(5743-5745)aGc>aAc p.S1915N ACAN_ENST00000559004.1_Missense_Mutation_p.S1915N|ACAN_ENST00000561243.1_Missense_Mutation_p.S1915N|ACAN_ENST00000352105.7_Missense_Mutation_p.S1915N NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 1915 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) GAGATTGGGAGCAGCCTGCCC 0.522000 14 40 0 0 1 0 0 CPA6 57094 broad.mit.edu 37 8 68419059 68419059 + Nonsense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:68419059C>T ENST00000297770.4 - 6 814 c.599G>A c.(598-600)tGg>tAg p.W200* CPA6_ENST00000518549.1_Nonsense_Mutation_p.W200*|CPA6_ENST00000297769.4_Nonsense_Mutation_p.W52* NM_020361.4 NP_065094.3 Q8N4T0 CBPA6_HUMAN carboxypeptidase A6 200 proteolysis proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5) 26 Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136) AGGACCAATCCATTCTCTTGC 0.423000 27 32 0 0 1 0 0 TIMD4 91937 broad.mit.edu 37 5 156378773 156378773 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:156378773G>A ENST00000274532.2 - 3 485 c.429C>T c.(427-429)acC>acT p.T143T TIMD4_ENST00000407087.3_Silent_p.T143T NM_138379.2 NP_612388.2 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain containing 4 143 Thr-rich. integral to membrane NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2) 37 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GTGTGGTGGTGGTTGCTGTTC 0.498000 93 182 0 0 1 0 0 TFAP4 7023 broad.mit.edu 37 16 4310150 4310150 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr16:4310150G>A ENST00000204517.6 - 6 1091 c.763C>T c.(763-765)Ccc>Tcc p.P255S NM_003223.2 NP_003214.1 Q01664 TFAP4_HUMAN transcription factor AP-4 (activating enhancer binding protein 4) 255 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle transcriptional repressor complex E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1) 14 ACCGAGGAGGGGCCCATGGTG 0.622000 39 48 0 0 1 0 0 SCARA5 286133 broad.mit.edu 37 8 27845080 27845080 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:27845080G>A ENST00000354914.3 - 2 538 c.53C>T c.(52-54)tCc>tTc p.S18F SCARA5_ENST00000524352.1_Missense_Mutation_p.S18F|SCARA5_ENST00000518030.1_Missense_Mutation_p.S18F|SCARA5_ENST00000380385.2_Missense_Mutation_p.S18F|SCARA5_ENST00000301906.4_Missense_Mutation_p.S18F NM_173833.5 NP_776194.2 Q6ZMJ2 SCAR5_HUMAN scavenger receptor class A, member 5 (putative) 18 cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization integral to plasma membrane ferritin receptor activity|scavenger receptor activity central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3) 18 Ovarian(32;0.0218) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228) CTCACAGATGGAGCTGGTGTC 0.562000 32 59 0 0 1 0 0 CYP4Z1 199974 broad.mit.edu 37 1 47533279 47533279 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:47533279G>A ENST00000334194.3 + 1 120 c.117G>A c.(115-117)atG>atA p.M39I NM_178134.2 NP_835235.1 Q86W10 CP4Z1_HUMAN cytochrome P450, family 4, subfamily Z, polypeptide 1 39 endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1) 11 GGAGATGGATGATCAGAGCCC 0.522000 52 21 0 0 1 0 0 SLC16A14 151473 broad.mit.edu 37 2 230911259 230911259 + Nonsense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:230911259G>A ENST00000295190.4 - 4 1041 c.583C>T c.(583-585)Caa>Taa p.Q195* NM_152527.4 NP_689740.2 Q7RTX9 MOT14_HUMAN solute carrier family 16, member 14 195 integral to membrane|plasma membrane symporter activity NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948) ACGGCACCTTGGATCAACATG 0.567000 59 99 0 0 1 0 0 FBXO10 26267 broad.mit.edu 37 9 37521635 37521635 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr9:37521635C>T ENST00000432825.2 - 8 2179 c.2131G>A c.(2131-2133)Gag>Aag p.E711K FBXO10_ENST00000541829.1_Missense_Mutation_p.E236K|RP11-613M10.8_ENST00000544475.1_5'UTR NM_012166.2 NP_036298.2 Q9UK96 FBX10_HUMAN F-box protein 10 711 ubiquitin ligase complex ubiquitin-protein ligase activity breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1) 34 GBM - Glioblastoma multiforme(29;0.0107) GGGTCGTCCTCCTTCTCCAGC 0.567000 16 4 0 0 1 0 0 TIE1 7075 broad.mit.edu 37 1 43778223 43778223 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:43778223C>T ENST00000372476.3 + 12 1957 c.1878C>T c.(1876-1878)acC>acT p.T626T TIE1_ENST00000433781.2_Silent_p.T271T NM_001253357.1|NM_005424.4 NP_001240286.1|NP_005415.1 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and EGF-like domains 1 626 Fibronectin type-III 2. mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 70 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) ACCACTGCACCCTCCTGGGCC 0.682000 10 83 0 0 1 0 0 MCOLN3 55283 broad.mit.edu 37 1 85484831 85484831 + Missense_Mutation SNP G G T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:85484831G>T ENST00000370589.2 - 13 1689 c.1637C>A c.(1636-1638)tCt>tAt p.S546Y MCOLN3_ENST00000341115.4_Missense_Mutation_p.S490Y|WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000474447.1_5'UTR NM_018298.10 NP_060768.8 Q8TDD5 MCLN3_HUMAN mucolipin 3 546 integral to membrane ion channel activity endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1) 34 all cancers(265;0.00957)|Epithelial(280;0.0254) GCAGAATAAAGATACTGGAGG 0.373000 12 56 2.68362e-12 2.70971e-12 1 1 0 STAB2 55576 broad.mit.edu 37 12 104140482 104140482 + Splice_Site SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:104140482G>A ENST00000388887.2 + 58 6448 c.6244_splice c.e58+1 p.V2082_splice RP11-341G23.4_ENST00000551299.1_RNA NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 2082 EGF-like 16. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 CACATGCACAGGTAAGCCACC 0.527000 69 68 0 0 1 0 0 FOXJ3 22887 broad.mit.edu 37 1 42657234 42657234 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:42657234G>A ENST00000372572.1 - 11 1402 c.1091C>T c.(1090-1092)tCg>tTg p.S364L FOXJ3_ENST00000361776.1_Missense_Mutation_p.S330L|FOXJ3_ENST00000361346.1_Missense_Mutation_p.S364L|FOXJ3_ENST00000372573.1_Missense_Mutation_p.S364L|FOXJ3_ENST00000545068.1_Missense_Mutation_p.S364L NM_001198851.1 NP_001185780.1 Q9UPW0 FOXJ3_HUMAN forkhead box J3 364 embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 18 Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) CTGTGCAACCGAATTACTGCC 0.577000 23 189 0 0 1 0 0 RGPD3 653489 broad.mit.edu 37 2 107049684 107049684 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:107049684C>T ENST00000409886.3 - 16 2350 c.2263G>A c.(2263-2265)Gaa>Aaa p.E755K RGPD3_ENST00000304514.7_Missense_Mutation_p.E755K NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 755 intracellular transport binding breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 CTATAGTTTTCGAGTTCCTGC 0.368000 71 270 0 0 1 0 0 FABP12 646486 broad.mit.edu 37 8 82441737 82441737 + Missense_Mutation SNP T T A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:82441737T>A ENST00000360464.4 - 2 244 c.182A>T c.(181-183)aAt>aTt p.N61I RP11-257P3.3_ENST00000523380.1_RNA NM_001105281.1 NP_001098751.1 A6NFH5 FBP12_HUMAN fatty acid binding protein 12 61 lipid binding|transporter activity large_intestine(1)|lung(3) 4 GGAGATCTCATTATTTTTAAA 0.438000 31 36 0 0 1 0 0 CTNNA3 29119 broad.mit.edu 37 10 68940198 68940198 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr10:68940198G>A ENST00000433211.1 - 7 1098 c.924C>T c.(922-924)atC>atT p.I308I CTNNA3_ENST00000545309.1_Silent_p.I308I|CTNNA3_ENST00000494580.1_5'UTR|CTNNA3_ENST00000373744.4_Silent_p.I308I NM_013266.2 NP_037398.2 Q9UI47 CTNA3_HUMAN catenin (cadherin-associated protein), alpha 3 308 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 95 CAGCCCCACTGATAATGGCTT 0.478000 27 7 0 0 1 0 0 TMPRSS15 5651 broad.mit.edu 37 21 19725220 19725220 + Splice_Site SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr21:19725220C>T ENST00000284885.3 - 10 1204 c.1171_splice c.e10+1 p.G391_splice NM_002772.2 NP_002763.2 P98073 ENTK_HUMAN transmembrane protease, serine 15 391 MAM. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 85 TGAATTATACCTGAAGCATTG 0.348000 33 63 0 0 1 0 0 CD1D 912 broad.mit.edu 37 1 158152894 158152894 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:158152894C>T ENST00000368171.3 + 5 1333 c.834C>T c.(832-834)tcC>tcT p.S278S NM_001766.3 NP_001757.1 P15813 CD1D_HUMAN CD1d molecule 278 Ig-like. antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection endosome membrane|integral to plasma membrane|lysosomal membrane beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2) 30 all_hematologic(112;0.0378) CTGGCCTGTCCTGTCGGGTGA 0.607000 87 38 0 0 1 0 0 KEL 3792 broad.mit.edu 37 7 142655480 142655480 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:142655480C>T ENST00000355265.2 - 5 910 c.436G>A c.(436-438)Gag>Aag p.E146K KEL_ENST00000479768.2_5'UTR NM_000420.2 NP_000411.1 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 146 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) AAGGCTTTCTCCTCCCCAGAG 0.478000 14 25 0 0 1 0 0 ABCC1 4363 broad.mit.edu 37 16 16200609 16200609 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr16:16200609C>T ENST00000399408.2 + 22 2955 c.2780C>T c.(2779-2781)tCc>tTc p.S927F ABCC1_ENST00000345148.5_Missense_Mutation_p.S917F|ABCC1_ENST00000351154.5_Missense_Mutation_p.S858F|ABCC1_ENST00000576557.1_3'UTR|ABCC1_ENST00000399410.3_Missense_Mutation_p.S917F|ABCC1_ENST00000349029.5_Missense_Mutation_p.S802F|ABCC1_ENST00000346370.5_Missense_Mutation_p.S861F P33527 MRP1_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 1 917 hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3) 56 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) CTCAGCAGCTCCTCCTCCTAT 0.582000 15 46 0 0 1 0 0 TMEM74 157753 broad.mit.edu 37 8 109796761 109796761 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:109796761G>A ENST00000297459.3 - 2 745 c.567C>T c.(565-567)atC>atT p.I189I TMEM74_ENST00000518838.1_Intron NM_153015.1 NP_694560.1 Q96NL1 TMM74_HUMAN transmembrane protein 74 189 autophagy autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(57;3.08e-10) TCACGAGCAGGATCCCAGTGA 0.527000 22 46 0 0 1 0 0 GPRC5C 55890 broad.mit.edu 37 17 72436587 72436587 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr17:72436587C>T ENST00000392627.1 + 2 1933 c.807C>T c.(805-807)ttC>ttT p.F269F GPRC5C_ENST00000392629.2_Silent_p.F236F|GPRC5C_ENST00000342648.5_Intron|GPRC5C_ENST00000481232.1_Intron NM_022036.2 NP_071319.2 Q9NQ84 GPC5C_HUMAN G protein-coupled receptor, family C, group 5, member C 224 cytoplasmic vesicle membrane|integral to plasma membrane G-protein coupled receptor activity|protein binding central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 17 TGGGTGCCTTCCTGGGGGCCT 0.642000 9 32 0 0 1 0 0 VPS54 51542 broad.mit.edu 37 2 64176286 64176286 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:64176286G>A ENST00000354504.3 - 6 1260 c.671C>T c.(670-672)tCa>tTa p.S224L VPS54_ENST00000409558.3_Missense_Mutation_p.S329L|VPS54_ENST00000272322.4_Missense_Mutation_p.S341L Q9P1Q0 VPS54_HUMAN vacuolar protein sorting 54 homolog (S. cerevisiae) 341 protein transport|retrograde transport, endosome to Golgi endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 27 ACAAAGCTGTGATCCCAAATG 0.313000 6 5 0 0 1 0 0 STK31 56164 broad.mit.edu 37 7 23793972 23793972 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:23793972C>T ENST00000354639.3 + 10 1567 c.1103C>T c.(1102-1104)tCa>tTa p.S368L STK31_ENST00000433467.2_Missense_Mutation_p.S391L|STK31_ENST00000355870.3_Missense_Mutation_p.S391L|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Missense_Mutation_p.S368L NM_001260504.1|NM_032944.3 NP_001247433.1|NP_116562.2 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 391 ATP binding|nucleic acid binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 AAAGACCTTTCAGATGCTATA 0.378000 33 70 0 0 1 0 0 ARMC4 55130 broad.mit.edu 37 10 28223949 28223949 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr10:28223949C>T ENST00000305242.5 - 16 2577 c.2485G>A c.(2485-2487)Gaa>Aaa p.E829K ARMC4_ENST00000537576.1_Missense_Mutation_p.E521K|ARMC4_ENST00000545014.1_Missense_Mutation_p.E354K NM_018076.2 NP_060546.2 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 829 binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 ATCATACTTTCAGGTTCTACT 0.408000 26 16 0 0 1 0 0 CBX4 8535 broad.mit.edu 37 17 77808568 77808568 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr17:77808568G>A ENST00000269397.4 - 5 1050 c.873C>T c.(871-873)tcC>tcT p.S291S NM_003655.2 NP_003646.2 O00257 CBX4_HUMAN chromobox homolog 4 291 Interaction with BMI1. anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|PcG protein complex enzyme binding|transcription corepressor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) TGTGGCTGGGGGAGCGAGCCT 0.632000 OREG0024799 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 44 85 0 0 1 0 0 PSG3 5671 broad.mit.edu 37 19 43233934 43233934 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:43233934G>A ENST00000327495.5 - 4 1168 c.984C>T c.(982-984)gtC>gtT p.V328V PSG3_ENST00000595140.1_Silent_p.V328V NM_021016.3 NP_066296.2 Q16557 PSG3_HUMAN pregnancy specific beta-1-glycoprotein 3 328 defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 Prostate(69;0.00682) ACTCACAGAGGACATTCAGGG 0.488000 52 64 0 0 1 0 0 GBA 2629 broad.mit.edu 37 1 155207281 155207281 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:155207281G>A ENST00000428024.2 - 6 1091 c.589C>T c.(589-591)Ccc>Tcc p.P197S GBA_ENST00000427500.2_Missense_Mutation_p.P235S|GBA_ENST00000327247.5_Missense_Mutation_p.P284S|GBA_ENST00000536770.1_Missense_Mutation_p.P171S|GBA_ENST00000368373.3_Missense_Mutation_p.P284S NM_001171811.1 NP_001165282.1 P04062 GLCM_HUMAN glucosidase, beta, acid 284 carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction lysosomal lumen|lysosomal membrane cation binding|glucosylceramidase activity|receptor binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 26 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) Alglucerase(DB00088)|Imiglucerase(DB00053) CACTGGAAGGGGTATCCACTC 0.547000 Gaucher disease type I 6 43 0 0 1 0 0 SFRP1 6422 broad.mit.edu 37 8 41122808 41122808 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:41122808C>T ENST00000220772.3 - 3 1160 c.823G>A c.(823-825)Gtg>Atg p.V275M SFRP1_ENST00000379845.3_Missense_Mutation_p.V139M NM_003012.4 NP_003003.3 Q8N474 SFRP1_HUMAN secreted frizzled-related protein 1 275 NTR. brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1) 7 Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211) all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559) BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174) TGGCTCTTCACCTTGCGGCCC 0.512000 35 61 0 0 1 0 0 HEATR2 54919 broad.mit.edu 37 7 794309 794309 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:794309G>A ENST00000297440.6 + 5 1128 c.1108G>A c.(1108-1110)Gac>Aac p.D370N HEATR2_ENST00000313147.5_Missense_Mutation_p.D370N NM_017802.3 NP_060272.3 Q86Y56 HEAT2_HUMAN HEAT repeat containing 2 370 protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1) 22 Ovarian(82;0.0112) UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14) CGACATCACCGACTGGGTGGT 0.657000 62 105 0 0 1 0 0 KCNV1 27012 broad.mit.edu 37 8 110984721 110984721 + Missense_Mutation SNP A A G TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:110984721A>G ENST00000524391.1 - 3 1789 c.757T>C c.(757-759)Ttc>Ctc p.F253L KCNV1_ENST00000297404.1_Missense_Mutation_p.F253L Q6PIU1 KCNV1_HUMAN potassium channel, subfamily V, member 1 253 voltage-gated potassium channel complex ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;5.35e-13) TCCCCGGTGAACCAGCTAATG 0.537000 19 52 0 0 1 0 0 YARS 8565 broad.mit.edu 37 1 33282819 33282819 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:33282819C>T ENST00000373477.4 - 1 935 c.27G>A c.(25-27)gaG>gaA p.E9E NM_003680.3 NP_003671.1 P54577 SYYC_HUMAN tyrosyl-tRNA synthetase 9 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) GGTGCAGTTTCTCTTCAGGGC 0.652000 22 130 0 0 1 0 0 OR52N2 390077 broad.mit.edu 37 11 5842048 5842048 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:5842048C>T ENST00000317037.2 + 1 505 c.483C>T c.(481-483)ttC>ttT p.F161F TRIM5_ENST00000380027.1_Intron NM_001005174.1 NP_001005174.1 Q8NGI0 O52N2_HUMAN olfactory receptor, family 52, subfamily N, member 2 161 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1) 32 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCATCCCATTCACTCTCCTCA 0.537000 51 78 0 0 1 0 0 L3MBTL1 26013 broad.mit.edu 37 20 42143675 42143675 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr20:42143675G>A ENST00000444063.1 + 2 391 c.259G>A c.(259-261)Gat>Aat p.D87N L3MBTL1_ENST00000373134.1_Missense_Mutation_p.D87N|L3MBTL1_ENST00000418998.1_Missense_Mutation_p.D155N|L3MBTL1_ENST00000373135.3_Missense_Mutation_p.D87N|L3MBTL1_ENST00000427442.2_Missense_Mutation_p.D155N|L3MBTL1_ENST00000457824.1_3'UTR Q9Y468 LMBL1_HUMAN l(3)mbt-like 1 (Drosophila) 87 chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis chromatin|condensed chromosome|nucleoplasm identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|large_intestine(3)|ovary(1)|skin(2) 7 TCCTCCAGAAGATCCCAATCA 0.647000 16 39 0 0 1 0 0 MYO1G 64005 broad.mit.edu 37 7 45010581 45010581 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:45010581C>T ENST00000258787.7 - 8 1060 c.924G>A c.(922-924)gtG>gtA p.V308V NM_033054.2 NP_149043.2 B0I1T2 MYO1G_HUMAN myosin IG 308 Myosin head-like. myosin complex|plasma membrane actin binding|ATP binding|calmodulin binding|motor activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4) 28 CCACATGGTCCACCAGTGCCT 0.632000 13 23 0 0 1 0 0 NCKAP5L 57701 broad.mit.edu 37 12 50188994 50188994 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:50188994G>A ENST00000335999.6 - 8 2850 c.2649C>T c.(2647-2649)atC>atT p.I883I NM_001037806.3 NP_001032895.2 Q9HCH0 NCK5L_HUMAN NCK-associated protein 5-like 879 central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2) 18 CCTTCTCCTCGATGGCTGAGT 0.657000 46 35 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179534944 179534944 + Splice_Site SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:179534944C>T ENST00000589042.1 - 157 35611 c.e157+1 TTN_ENST00000342992.6_Splice_Site|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Splice_Site|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 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) AAGCCAGTTACCTTTAGTTGG 0.353000 7 13 0 0 1 0 0 C5 727 broad.mit.edu 37 9 123744131 123744131 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr9:123744131G>A ENST00000223642.1 - 27 3506 c.3477C>T c.(3475-3477)tgC>tgT p.C1159C NM_001735.2 NP_001726.2 P01031 CO5_HUMAN complement component 5 1159 activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production extracellular space|membrane attack complex chemokine activity|endopeptidase inhibitor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242) Eculizumab(DB01257) CCACCAGGGGGCATATATCGA 0.413000 19 4 0 0 1 0 0 ZBTB39 9880 broad.mit.edu 37 12 57397310 57397310 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:57397310G>A ENST00000300101.2 - 2 1477 c.1392C>T c.(1390-1392)ttC>ttT p.F464F NM_014830.2 NP_055645.1 O15060 ZBT39_HUMAN zinc finger and BTB domain containing 39 464 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1) 16 GGACCACATGGAAATCTTTGG 0.582000 21 24 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228882732 228882732 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:228882732C>T ENST00000392056.3 - 7 2884 c.2838G>A c.(2836-2838)gcG>gcA p.A946A SPHKAP_ENST00000344657.5_Silent_p.A946A NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 946 PKA-RII subunit binding domain (By similarity). 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) CAAGGCAAATCGCTGCAATTT 0.473000 43 85 0 0 1 0 0 TSPAN32 10077 broad.mit.edu 37 11 2338710 2338710 + Missense_Mutation SNP G G T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:2338710G>T ENST00000182290.4 + 9 993 c.856G>T c.(856-858)Gat>Tat p.D286Y TSPAN32_ENST00000451520.2_Missense_Mutation_p.D275Y|TSPAN32_ENST00000381121.3_Intron NM_139022.2 NP_620591.3 Q96QS1 TSN32_HUMAN tetraspanin 32 286 cell-cell signaling integral to membrane breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1) 8 all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209) BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153) GCAGGAGAGCGATGCTGCGCC 0.632000 5 4 1 1 1 1 0 LIN28B 389421 broad.mit.edu 37 6 105474268 105474268 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:105474268G>A ENST00000345080.4 + 3 497 c.294G>A c.(292-294)cgG>cgA p.R98R NM_001004317.3 NP_001004317.1 Q6ZN17 LN28B_HUMAN lin-28 homolog B (C. elegans) 98 CSD. miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing cytoplasm|nucleus DNA binding|protein binding|RNA binding|zinc ion binding large_intestine(1)|lung(10)|ovary(1) 12 all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204) AGTCAATACGGGTAACAGGAC 0.408000 103 85 0 0 1 0 0 CNR2 1269 broad.mit.edu 37 1 24201850 24201850 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:24201850G>A ENST00000536471.1 - 3 516 c.258C>T c.(256-258)gtC>gtT p.V86V CNR2_ENST00000374472.4_Silent_p.V86V P34972 CNR2_HUMAN cannabinoid receptor 2 (macrophage) 86 behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response dendrite|integral to plasma membrane|perikaryon cannabinoid receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2) 26 Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146) Nabilone(DB00486) TGCATGCAAAGACCACACTGG 0.532000 67 38 0 0 1 0 0 DSCAML1 57453 broad.mit.edu 37 11 117375660 117375660 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:117375660C>T ENST00000321322.6 - 10 2342 c.2341G>A c.(2341-2343)Gtc>Atc p.V781I DSCAML1_ENST00000527706.1_Missense_Mutation_p.V511I NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 721 Ig-like C2-type 8. 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) TTCCACATGACCTTGGGTGGG 0.592000 21 34 0 0 1 0 0 NTRK1 4914 broad.mit.edu 37 1 156837938 156837938 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:156837938C>T ENST00000368196.3 + 5 591 c.471C>T c.(469-471)cgC>cgT p.R157R NTRK1_ENST00000358660.3_Silent_p.R157R|NTRK1_ENST00000524377.1_Silent_p.R157R|NTRK1_ENST00000392302.2_Silent_p.R127R NM_001012331.1 NP_001012331.1 P04629 NTRK1_HUMAN neurotrophic tyrosine kinase, receptor, type 1 157 LRRCT. activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) Imatinib(DB00619) GTGCCCTGCGCTGGCTACAGC 0.647000 T """TPM3, TPR, TFG""" papillary thyroid TSP Lung(10;0.080) 13 101 0 0 1 0 0 KRT18 3875 broad.mit.edu 37 12 53345616 53345616 + Silent SNP C C T rs149270992 TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:53345616C>T ENST00000550600.1 + 6 978 c.924C>T c.(922-924)atC>atT p.I308I KRT18_ENST00000388835.3_Silent_p.I308I|KRT18_ENST00000388837.2_Silent_p.I308I P05783 K1C18_HUMAN keratin 18 308 Coil 2.|Interaction with DNAJB6.|Necessary for interaction with PNN.|Rod. anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis centriolar satellite|keratin filament|perinuclear region of cytoplasm protein binding|structural molecule activity central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1) 11 CCTTGGAGATCGACCTGGACT 0.557000 17 15 0 0 1 0 0 ADAMTS13 11093 broad.mit.edu 37 9 136291092 136291092 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr9:136291092C>T ENST00000371929.3 + 5 893 c.449C>T c.(448-450)tCc>tTc p.S150F ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.S150F|ADAMTS13_ENST00000371916.1_Missense_Mutation_p.S150F|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.S150F|ADAMTS13_ENST00000371911.3_Missense_Mutation_p.S150F NM_139025.3|NM_139027.3 NP_620594.1|NP_620596.2 Q76LX8 ATS13_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 13 150 Peptidase M12B. cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis cell surface|proteinaceous extracellular matrix calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4) 36 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) CTCACCTCGTCCCTGCTGAGC 0.607000 25 11 0 0 1 0 0 CNR1 1268 broad.mit.edu 37 6 88854232 88854232 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:88854232G>A ENST00000537554.1 - 2 4324 c.762C>T c.(760-762)ggC>ggT p.G254G CNR1_ENST00000468898.1_Silent_p.G221G|CNR1_ENST00000535130.1_Silent_p.G254G|CNR1_ENST00000549890.1_Silent_p.G254G|CNR1_ENST00000428600.2_Silent_p.G254G|CNR1_ENST00000549716.1_Silent_p.G193G|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000369501.2_Silent_p.G254G|CNR1_ENST00000369499.2_Silent_p.G254G NM_001160226.1|NM_001160258.1 NP_001153698.1|NP_001153730.1 P21554 CNR1_HUMAN cannabinoid receptor 1 (brain) 254 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) CGCAGTTCCAGCCCAGGAGAG 0.542000 40 28 0 0 1 0 0 THEMIS 387357 broad.mit.edu 37 6 128134908 128134908 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:128134908C>T ENST00000368250.1 - 5 1139 c.641G>A c.(640-642)gGa>gAa p.G214E THEMIS_ENST00000368248.2_Missense_Mutation_p.G293E|THEMIS_ENST00000543064.1_Missense_Mutation_p.G293E|THEMIS_ENST00000537166.1_Missense_Mutation_p.G258E Q8N1K5 THMS1_HUMAN thymocyte selection associated 293 CABIT 1. negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3) 60 CAGGTGGTTTCCTTCAGGTGC 0.403000 28 90 0 0 1 0 0 SLC4A5 57835 broad.mit.edu 37 2 74466470 74466470 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:74466470G>A ENST00000394019.2 - 21 2708 c.2311C>T c.(2311-2313)Cct>Tct p.P771S SLC4A5_ENST00000346834.4_Missense_Mutation_p.P771S|SLC4A5_ENST00000359484.4_Missense_Mutation_p.P707S|SLC4A5_ENST00000377632.1_Missense_Mutation_p.P771S|SLC4A5_ENST00000377634.4_Missense_Mutation_p.P771S|SLC4A5_ENST00000358683.4_Missense_Mutation_p.P707S|SLC4A5_ENST00000423644.1_Missense_Mutation_p.P771S|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000357822.5_Missense_Mutation_p.P771S|RP11-287D1.3_ENST00000451608.2_3'UTR NM_133478.2 NP_597812.1 Q9BY07 S4A5_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 5 771 apical plasma membrane|integral to membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 ACCTTGGTAGGAAAATAGCGG 0.532000 21 36 0 0 1 0 0 FFAR4 338557 broad.mit.edu 37 10 95335855 95335855 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr10:95335855C>T ENST00000371483.4 + 2 631 c.575C>T c.(574-576)tCg>tTg p.S192L FFAR4_ENST00000371481.4_Missense_Mutation_p.S192L|FFAR4_ENST00000604414.1_Missense_Mutation_p.S192L NM_181745.3 NP_859529.2 free fatty acid receptor 4 TAGGAAATTTCGATTTGCACA 0.438000 24 19 0 0 1 0 0 KDR 3791 broad.mit.edu 37 4 55956220 55956220 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr4:55956220C>T ENST00000263923.4 - 23 3390 c.3095G>A c.(3094-3096)cGa>cAa p.R1032Q RP11-530I17.1_ENST00000511222.1_RNA NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 1032 Protein kinase. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity p.R1032Q(2) NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) GAGGATATTTCGTGCCGCCAG 0.448000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 40 23 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228509697 228509697 + Missense_Mutation SNP G G C TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:228509697G>C ENST00000570156.2 + 66 18100 c.18026G>C c.(18025-18027)cGc>cCc p.R6009P OBSCN_ENST00000284548.11_Missense_Mutation_p.R5052P|OBSCN_ENST00000366707.4_Missense_Mutation_p.R2686P|OBSCN_ENST00000366709.4_Missense_Mutation_p.R2171P|OBSCN_ENST00000422127.1_Missense_Mutation_p.R5052P NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 5052 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CAGACATACCGCGAAGATGAG 0.592000 5 11 0 0 1 0 0 MED13 9969 broad.mit.edu 37 17 60040271 60040271 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr17:60040271G>A ENST00000397786.2 - 21 4982 c.4906C>T c.(4906-4908)Cca>Tca p.P1636S NM_005121.2 NP_005112.2 Q9UHV7 MED13_HUMAN mediator complex subunit 13 1636 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 ATTGCAGGTGGATACGTGACT 0.403000 30 56 0 0 1 0 0 EYA1 2138 broad.mit.edu 37 8 72211898 72211898 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:72211898G>A ENST00000340726.3 - 8 1253 c.614C>T c.(613-615)tCc>tTc p.S205F EYA1_ENST00000419131.1_Missense_Mutation_p.S200F|EYA1_ENST00000388740.3_Missense_Mutation_p.S172F|EYA1_ENST00000388743.2_Missense_Mutation_p.S204F|EYA1_ENST00000303824.7_Missense_Mutation_p.S199F|EYA1_ENST00000388742.4_Missense_Mutation_p.S205F|EYA1_ENST00000388741.2_Missense_Mutation_p.S171F NM_000503.4 NP_000494.2 Q99502 EYA1_HUMAN eyes absent homolog 1 (Drosophila) 205 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 44 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) AAATCCAGAGGAATTTGTGAG 0.299000 24 40 0 0 1 0 0 GPR110 266977 broad.mit.edu 37 6 46996735 46996735 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:46996735G>A ENST00000371253.2 - 2 278 c.63C>T c.(61-63)ttC>ttT p.F21F GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000371243.2_Silent_p.F21F NM_153840.2 NP_722582.2 Q5T601 GP110_HUMAN G protein-coupled receptor 110 21 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 29 TCACCCCCAGGAAGCCACCGT 0.517000 32 51 0 0 1 0 0 FLI1 2313 broad.mit.edu 37 11 128634703 128634703 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:128634703G>A ENST00000281428.8 + 1 19 c.19G>A c.(19-21)Ggc>Agc p.G7S FLI1_ENST00000429175.2_Intron|FLI1_ENST00000534087.1_Intron|FLI1_ENST00000344954.6_Intron|FLI1_ENST00000527767.2_Intron|FLI1_ENST00000525560.1_Intron NM_001271010.1 NP_001257939.1 Q01543 FLI1_HUMAN Fli-1 proto-oncogene, ETS transcription factor 0 hemostasis|organ morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity EWSR1/FLI1(2569) NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2) 31 all_hematologic(175;0.0641) Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182) OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327) AGGACTGGCAGGCGAGCGGGC 0.662000 T EWSR1 Ewing sarcoma 3 10 0 0 1 0 0 CGREF1 10669 broad.mit.edu 37 2 27324395 27324395 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:27324395G>A ENST00000402394.1 - 6 972 c.704C>T c.(703-705)gCc>gTc p.A235V CGREF1_ENST00000405600.1_Missense_Mutation_p.A235V|CGREF1_ENST00000402550.1_Intron|CGREF1_ENST00000312734.4_Missense_Mutation_p.A235V|CGREF1_ENST00000260595.5_Missense_Mutation_p.A235V|CGREF1_ENST00000404694.3_Missense_Mutation_p.A357V|CGREF1_ENST00000452318.2_Intron NM_006569.5 NP_006560.3 Q99674 CGRE1_HUMAN cell growth regulator with EF-hand domain 1 235 cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress extracellular region calcium ion binding kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGGCCCAGGGGCATCTCCTTT 0.672000 90 232 0 0 1 0 0 RNF219 79596 broad.mit.edu 37 13 79213160 79213160 + Missense_Mutation SNP T T C TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr13:79213160T>C ENST00000282003.6 - 4 405 c.347A>G c.(346-348)aAa>aGa p.K116R NM_024546.3 NP_078822.3 Q5W0B1 RN219_HUMAN ring finger protein 219 116 zinc ion binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1) 32 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848) GBM - Glioblastoma multiforme(99;0.0414) GCTGAGATTTTTACTCTTAAG 0.378000 43 35 0 0 1 0 0 OR10J1 26476 broad.mit.edu 37 1 159410499 159410499 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:159410499G>A ENST00000423932.3 + 1 988 c.951G>A c.(949-951)ggG>ggA p.G317G RP11-550P17.5_ENST00000431862.1_RNA NM_012351.2 NP_036483.2 P30954 O10J1_HUMAN olfactory receptor, family 10, subfamily J, member 1 317 sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity p.G317G(1) endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1) 25 all_hematologic(112;0.0429) CTGTTGGTGGGAAGTTTTCCT 0.488000 46 25 0 0 1 0 0 OR2T3 343173 broad.mit.edu 37 1 248636944 248636944 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:248636944C>T ENST00000359594.2 + 1 318 c.293C>T c.(292-294)tCc>tTc p.S98F NM_001005495.1 NP_001005495.1 Q8NH03 OR2T3_HUMAN olfactory receptor, family 2, subfamily T, member 3 98 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) GATACCATTTCCCCGTCAGGC 0.542000 43 18 0 0 1 0 0 TMEM108 66000 broad.mit.edu 37 3 133098622 133098622 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:133098622G>A ENST00000515826.1 + 3 190 c.67G>A c.(67-69)Gaa>Aaa p.E23K TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000393130.3_Missense_Mutation_p.E23K|TMEM108_ENST00000321871.6_Missense_Mutation_p.E23K Q6UXF1 TM108_HUMAN transmembrane protein 108 23 integral to membrane endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 GGCACTGACCGAAGCGCTGGC 0.552000 169 239 0 0 1 0 0 SRCAP 10847 broad.mit.edu 37 16 30748522 30748522 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr16:30748522C>T ENST00000262518.4 + 34 7546 c.7161C>T c.(7159-7161)gcC>gcT p.A2387A SRCAP_ENST00000395059.2_Silent_p.A2325A|SRCAP_ENST00000344771.4_Silent_p.A2229A NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 2387 interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) AGGCCAAAGCCCCTGAGAGGC 0.637000 30 43 0 0 1 0 0 GRIK2 2898 broad.mit.edu 37 6 102307302 102307302 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:102307302G>A ENST00000369138.1 + 10 1948 c.1458G>A c.(1456-1458)ggG>ggA p.G486G GRIK2_ENST00000369137.3_Silent_p.G486G|GRIK2_ENST00000421544.1_Silent_p.G486G|GRIK2_ENST00000318991.6_Silent_p.G486G|GRIK2_ENST00000413795.1_Silent_p.G486G|GRIK2_ENST00000369134.4_Silent_p.G437G NM_001166247.1 NP_001159719.1 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 486 glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) TGGAAGATGGGAAATATGGAG 0.383000 15 49 0 0 1 0 0 HRG 3273 broad.mit.edu 37 3 186395022 186395022 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:186395022C>T ENST00000232003.4 + 7 1008 c.928C>T c.(928-930)Ccc>Tcc p.P310S NM_000412.2 NP_000403.1 P04196 HRG_HUMAN histidine-rich glycoprotein 310 Pro-rich. fibrinolysis|platelet activation|platelet degranulation extracellular region|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0683) CTCACATGGACCCCCACTTCC 0.512000 35 41 0 0 1 0 0 PHF21B 112885 broad.mit.edu 37 22 45312165 45312165 + Missense_Mutation SNP T T C TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr22:45312165T>C ENST00000313237.5 - 4 709 c.559A>G c.(559-561)Aac>Gac p.N187D PHF21B_ENST00000447824.3_Missense_Mutation_p.N175D|PHF21B_ENST00000403565.1_Missense_Mutation_p.N25D|PHF21B_ENST00000404079.2_Missense_Mutation_p.N175D|PHF21B_ENST00000396103.3_Missense_Mutation_p.N187D NM_138415.4 NP_612424.1 Q96EK2 PF21B_HUMAN PHD finger protein 21B 187 zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2) 25 all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731) UCEC - Uterine corpus endometrioid carcinoma (28;0.0203) CTCACCTTGTTGTCAGCACTG 0.622000 15 6 0 0 1 0 0 DOCK3 1795 broad.mit.edu 37 3 51246236 51246236 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:51246236C>T ENST00000266037.9 + 13 1092 c.1069C>T c.(1069-1071)Cac>Tac p.H357Y NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 357 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) GTCCCAGATCCACGAGAACAT 0.453000 7 6 0 0 1 0 0 FDXACB1 91893 broad.mit.edu 37 11 111746137 111746137 + Missense_Mutation SNP T T C TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:111746137T>C ENST00000260257.4 - 5 1431 c.1384A>G c.(1384-1386)Act>Gct p.T462A ALG9_ENST00000524880.1_Intron|ALG9_ENST00000527377.1_Intron|FDXACB1_ENST00000542429.1_Missense_Mutation_p.T313A NM_138378.2 NP_612387.1 Q9BRP7 FDXA1_HUMAN ferredoxin-fold anticodon binding domain containing 1 462 phenylalanyl-tRNA aminoacylation|tRNA processing ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(3) 19 AGATCCTCAGTACAATCTGGG 0.373000 30 31 0 0 1 0 0 COBL 23242 broad.mit.edu 37 7 51096460 51096460 + Missense_Mutation SNP T T G TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:51096460T>G ENST00000395542.2 - 12 2763 c.2579A>C c.(2578-2580)aAa>aCa p.K860T COBL_ENST00000265136.7_Missense_Mutation_p.K778T O75128 COBL_HUMAN cordon-bleu WH2 repeat protein 778 NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Glioma(55;0.08) GCCCAGGTGTTTTTCCACAGA 0.587000 3 46 0 0 1 0 0 FGF1 2246 broad.mit.edu 37 5 141974939 141974939 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:141974939C>T ENST00000359370.6 - 4 463 c.384G>A c.(382-384)aaG>aaA p.K128K AC005592.2_ENST00000443800.1_RNA|FGF1_ENST00000337706.2_Silent_p.K128K|FGF1_ENST00000494579.1_5'UTR|FGF1_ENST00000360966.5_3'UTR|FGF1_ENST00000407758.1_3'UTR|AC005592.2_ENST00000414314.1_RNA|FGF1_ENST00000378046.1_Silent_p.K128K|FGF1_ENST00000419524.2_Silent_p.K128K NM_000800.4|NM_001144892.2|NM_001144934.1|NM_001144935.1|NM_001257205.1|NM_001257206.1|NM_001257207.1|NM_001257210.1|NM_001257212.1|NM_033137.2 NP_000791.1|NP_001138364.1|NP_001138406.1|NP_001138407.1|NP_001244134.1|NP_001244135.1|NP_001244136.1|NP_001244139.1|NP_001244141.1|NP_149128.1 P05230 FGF1_HUMAN fibroblast growth factor 1 (acidic) 128 Heparin-binding. angiogenesis|cellular response to heat|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cell migration|positive regulation of cholesterol biosynthetic process|positive regulation of intracellular protein kinase cascade|positive regulation of transcription from RNA polymerase II promoter cell cortex|cytosol|extracellular space fibroblast growth factor receptor binding|growth factor activity|heparin binding|S100 alpha binding large_intestine(1)|lung(2) 3 all_neural(839;0.0416)|Ovarian(839;0.0955)|all_hematologic(541;0.1)|Prostate(461;0.157)|Lung NSC(810;0.21) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.00032) Pentosan Polysulfate(DB00686) AGCTCCCATTCTTCTTGAGGC 0.468000 28 27 0 0 1 0 0 RIMS2 9699 broad.mit.edu 37 8 105263946 105263946 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:105263946C>T ENST00000507740.1 + 22 3626 c.3390C>T c.(3388-3390)ttC>ttT p.F1130F RIMS2_ENST00000339750.2_Silent_p.F252F|RIMS2_ENST00000406091.3_Silent_p.F1316F|RIMS2_ENST00000262231.10_Silent_p.F1155F|RIMS2_ENST00000436393.2_Silent_p.F1334F NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 1378 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) TCAAACTTTTCCCACCTTCCT 0.448000 HNSCC(12;0.0054) 49 93 0 0 1 0 0 LPAR3 23566 broad.mit.edu 37 1 85331549 85331549 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:85331549G>A ENST00000440886.1 - 1 293 c.255C>T c.(253-255)ttC>ttT p.F85F LPAR3_ENST00000491034.1_5'UTR|LPAR3_ENST00000370611.3_Silent_p.F85F Q9UBY5 LPAR3_HUMAN lysophosphatidic acid receptor 3 85 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane|intracellular membrane-bounded organelle central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1) 24 TAAACATCAGGAATACATAGG 0.463000 32 180 0 0 1 0 0 IGHV3OR16-8 388255 broad.mit.edu 37 16 33020712 33020712 + RNA SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr16:33020712C>T ENST00000565407.2 + 0 120 RP11-19N8.2_ENST00000567619.1_RNA TGAGACTGTCCTGTCCAGCCT 0.577000 86 129 0 0 1 0 0 PON1 5444 broad.mit.edu 37 7 94931553 94931553 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:94931553G>A ENST00000222381.3 - 8 1104 c.873C>T c.(871-873)atC>atT p.I291I PON1_ENST00000542556.1_Silent_p.I291I NM_000446.5 NP_000437.3 P27169 PON1_HUMAN paraoxonase 1 291 aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus spherical high-density lipoprotein particle aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 27 all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239) STAD - Stomach adenocarcinoma(171;0.0031) Atorvastatin(DB01076)|Cefazolin(DB01327) CATAGAAGAAGATTTTCATGC 0.403000 17 27 0 0 1 0 0 CHRM2 1129 broad.mit.edu 37 7 136699707 136699707 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:136699707C>T ENST00000445907.2 + 3 623 c.95C>T c.(94-96)tCc>tTc p.S32F AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.S32F|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000597642.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.S32F|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.S32F|CHRM2_ENST00000401861.1_Missense_Mutation_p.S32F|CHRM2_ENST00000453373.1_Missense_Mutation_p.S32F NM_001006627.1|NM_001006629.1 NP_001006628.1|NP_001006630.1 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 32 activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 68 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) GTGGCTGGATCCCTCAGTTTG 0.423000 31 67 0 0 1 0 0 LRRC7 57554 broad.mit.edu 37 1 70541968 70541968 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:70541968G>A ENST00000310961.5 + 24 4617 c.4199G>A c.(4198-4200)gGa>gAa p.G1400E LRRC7_ENST00000035383.5_Missense_Mutation_p.G1442E|LRRC7_ENST00000415775.2_Missense_Mutation_p.G726E Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 1442 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 AGTATGGATGGATATCCAGAG 0.463000 17 76 0 0 1 0 0 DCN 1634 broad.mit.edu 37 12 91552184 91552184 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:91552184C>T ENST00000052754.5 - 4 928 c.427G>A c.(427-429)Gaa>Aaa p.E143K DCN_ENST00000393155.1_Missense_Mutation_p.E143K|DCN_ENST00000425043.1_Intron|DCN_ENST00000228329.5_Intron|DCN_ENST00000303320.3_Intron|DCN_ENST00000547568.2_Intron|DCN_ENST00000552962.1_Missense_Mutation_p.E143K|DCN_ENST00000456569.2_Intron|DCN_ENST00000420120.2_Intron|DCN_ENST00000441303.2_Intron NM_001920.3 NP_001911.1 P07585 PGS2_HUMAN decorin 143 organ morphogenesis extracellular space central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1) 20 TCTGGCAATTCCTTCAGCTGA 0.403000 26 56 0 0 1 0 0 AOC1 26 broad.mit.edu 37 7 150554586 150554586 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:150554586G>A ENST00000493429.1 + 4 1612 c.1028G>A c.(1027-1029)gGa>gAa p.G343E AOC1_ENST00000360937.4_Missense_Mutation_p.G343E|AOC1_ENST00000467291.1_Missense_Mutation_p.G343E|AOC1_ENST00000416793.2_Missense_Mutation_p.G343E amine oxidase, copper containing 1 CACTTCGGCGGAGAGCGCATT 0.632000 44 52 0 0 1 0 0 NRP2 8828 broad.mit.edu 37 2 206581035 206581035 + Missense_Mutation SNP T T C TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:206581035T>C ENST00000360409.3 + 3 1161 c.370T>C c.(370-372)Ttc>Ctc p.F124L NRP2_ENST00000540841.1_Missense_Mutation_p.F124L|NRP2_ENST00000412873.2_Missense_Mutation_p.F124L|NRP2_ENST00000417189.1_Missense_Mutation_p.F124L|NRP2_ENST00000357118.4_Missense_Mutation_p.F124L|NRP2_ENST00000540178.1_Missense_Mutation_p.F124L|NRP2_ENST00000355117.4_Missense_Mutation_p.F124L|NRP2_ENST00000272849.3_Missense_Mutation_p.F124L|NRP2_ENST00000357785.5_Missense_Mutation_p.F124L NM_003872.2|NM_201266.1|NM_201279.1 NP_003863.2|NP_957718.1|NP_958436.1 O60462 NRP2_HUMAN neuropilin 2 124 CUB 1. angiogenesis|axon guidance|cell adhesion integral to membrane|membrane fraction|plasma membrane heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 52 CTACATCAGGTTCACCTCCGA 0.622000 47 50 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144941602 144941602 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:144941602G>A ENST00000525985.1 - 2 5891 c.5820C>T c.(5818-5820)ctC>ctT p.L1940L P58107 EPIPL_HUMAN epiplakin 1 1940 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) AGGGGTCCAGGAGGAACCCGG 0.642000 51 64 0 0 1 0 0 CTIF 9811 broad.mit.edu 37 18 46146020 46146020 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr18:46146020C>T ENST00000256413.3 + 2 379 c.84C>T c.(82-84)atC>atT p.I28I CTIF_ENST00000382998.4_Silent_p.I28I NM_014772.2 NP_055587.1 O43310 CTIF_HUMAN CBP80/20-dependent translation initiation factor 28 Interaction with NCBP1/CBP80. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation perinuclear region of cytoplasm protein binding breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 31 AGCGCTTCATCGACAGCTACG 0.637000 3 10 0 0 1 0 0 CLVS1 157807 broad.mit.edu 37 8 62371063 62371063 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:62371063G>A ENST00000519846.1 + 6 1411 c.939G>A c.(937-939)tcG>tcA p.S313S CLVS1_ENST00000518592.1_Silent_p.S34S|CLVS1_ENST00000325897.4_Silent_p.S313S Q8IUQ0 CLVS1_HUMAN clavesin 1 313 lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 ATACGTCCTCGAATCTGGAGA 0.493000 18 22 0 0 1 0 0 SMC1B 27127 broad.mit.edu 37 22 45802416 45802416 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr22:45802416C>T ENST00000357450.4 - 4 539 c.540G>A c.(538-540)gaG>gaA p.E180E SMC1B_ENST00000404354.3_Silent_p.E180E NM_148674.3 NP_683515.3 Q8NDV3 SMC1B_HUMAN structural maintenance of chromosomes 1B 180 chromosome organization|meiosis chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus ATP binding breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 37 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) ACTGTGCATCCTCTTCGGCTT 0.368000 12 6 0 0 1 0 0 ST6GALNAC5 81849 broad.mit.edu 37 1 77528732 77528732 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:77528732C>T ENST00000477717.1 + 5 1087 c.852C>T c.(850-852)ctC>ctT p.L284L NM_030965.1 NP_112227.1 Q9BVH7 SIA7E_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 284 protein glycosylation integral to Golgi membrane sialyltransferase activity endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1) 18 CAATGTACCTCTCCCATGAGC 0.423000 55 26 0 0 1 0 0 KCNT2 343450 broad.mit.edu 37 1 196395082 196395082 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:196395082C>T ENST00000367433.5 - 11 1122 c.1021G>A c.(1021-1023)Gat>Aat p.D341N KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000367431.4_Missense_Mutation_p.D341N|KCNT2_ENST00000294725.8_Missense_Mutation_p.D341N|KCNT2_ENST00000498426.1_5'UTR Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 341 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 ACCTGTACATCCATTTCAGTA 0.368000 9 55 0 0 1 0 0 MYEF2 50804 broad.mit.edu 37 15 48446052 48446052 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr15:48446052C>T ENST00000324324.7 - 10 1303 c.1024G>A c.(1024-1026)Gga>Aga p.G342R MYEF2_ENST00000267836.6_Missense_Mutation_p.G342R NM_016132.3 NP_057216.2 Q9P2K5 MYEF2_HUMAN myelin expression factor 2 342 Gly-rich. transcription, DNA-dependent Golgi apparatus|nucleus DNA binding|nucleotide binding|RNA binding endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 31 all_lung(180;0.00217) all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07) ATAGGCTGTCCACCCGGACCA 0.393000 11 18 0 0 1 0 0 RGS9 8787 broad.mit.edu 37 17 63149575 63149575 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr17:63149575G>A ENST00000449996.3 + 2 165 c.93G>A c.(91-93)gaG>gaA p.E31E RGS9_ENST00000443584.3_Silent_p.E31E|RGS9_ENST00000262406.9_Silent_p.E31E|RGS9_ENST00000577186.1_3'UTR NM_001081955.2 NP_001075424.1 O75916 RGS9_HUMAN regulator of G-protein signaling 9 31 DEP. intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3) 41 AGAACCCAGAGACAGGGGTCC 0.502000 54 102 0 0 1 0 0 GALNT9 50614 broad.mit.edu 37 12 132685754 132685754 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:132685754C>T ENST00000328957.8 - 8 1315 c.1316G>A c.(1315-1317)aGg>aAg p.R439K GALNT9_ENST00000397325.2_Missense_Mutation_p.R73K|GALNT9_ENST00000541995.1_Missense_Mutation_p.R73K|GALNT9_ENST00000535228.1_Missense_Mutation_p.R190K NM_001122636.1 NP_001116108.1 Q9HCQ5 GALT9_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9) 439 protein O-linked glycosylation Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(1)|endometrium(1)|large_intestine(2)|lung(5) 9 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.241) OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05) ACACTTCAGCCTCTGACGCAG 0.597000 4 26 0 0 1 0 0 EYA4 2070 broad.mit.edu 37 6 133783826 133783826 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:133783826G>A ENST00000367895.5 + 9 1112 c.648G>A c.(646-648)caG>caA p.Q216Q EYA4_ENST00000452339.2_Silent_p.Q162Q|EYA4_ENST00000431403.2_Silent_p.Q216Q|EYA4_ENST00000355167.3_Silent_p.Q216Q|EYA4_ENST00000355286.6_Silent_p.Q193Q|EYA4_ENST00000531901.1_Silent_p.Q216Q|EYA4_ENST00000525849.1_Silent_p.Q193Q|EYA4_ENST00000430974.2_Silent_p.Q162Q NM_004100.4 NP_004091.3 O95677 EYA4_HUMAN eyes absent homolog 4 (Drosophila) 216 anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1) 48 Colorectal(23;0.221) GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152) CCCCATTACAGAGTGGCTGCC 0.463000 9 50 0 0 1 0 0 TBC1D9B 23061 broad.mit.edu 37 5 179305440 179305440 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:179305440C>T ENST00000356834.3 - 10 1688 c.1651G>A c.(1651-1653)Gag>Aag p.E551K TBC1D9B_ENST00000355235.3_Missense_Mutation_p.E551K NM_198868.2 NP_942568.2 Q66K14 TBC9B_HUMAN TBC1 domain family, member 9B (with GRAM domain) 551 Rab-GAP TBC. integral to membrane|intracellular calcium ion binding|Rab GTPase activator activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 28 all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TCGATCTCCTCTGTGGCCAGG 0.642000 5 6 0 0 1 0 0 TROAP 10024 broad.mit.edu 37 12 49724538 49724538 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:49724538C>T ENST00000551245.1 + 13 2021 c.1910C>T c.(1909-1911)cCt>cTt p.P637L TROAP_ENST00000257909.3_Missense_Mutation_p.P637L|TROAP_ENST00000547923.1_Missense_Mutation_p.P316L Q12815 TROAP_HUMAN trophinin associated protein 637 4 X 33 AA approximate tandem repeats.|Cys-rich. cell adhesion cytoplasm breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 32 GGGCCCTGCCCTAGGGTAGAG 0.652000 14 66 0 0 1 0 0 NUAK1 9891 broad.mit.edu 37 12 106480593 106480593 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:106480593G>A ENST00000261402.2 - 3 1811 c.432C>T c.(430-432)atC>atT p.I144I NM_014840.2 NP_055655.1 O60285 NUAK1_HUMAN NUAK family, SNF1-like kinase, 1 144 Protein kinase. ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 37 GCCGCTCACTGATGTAATCGT 0.512000 16 51 0 0 1 0 0 CDC42BPA 8476 broad.mit.edu 37 1 227198755 227198755 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:227198755G>A ENST00000334218.5 - 34 5704 c.4762C>T c.(4762-4764)Cct>Tct p.P1588S CDC42BPA_ENST00000366764.2_Intron|CDC42BPA_ENST00000366765.3_Intron|CDC42BPA_ENST00000535525.1_Intron|CDC42BPA_ENST00000366767.3_Intron|CDC42BPA_ENST00000366769.3_Intron|CDC42BPA_ENST00000366766.2_Intron Q5VT25 MRCKA_HUMAN CDC42 binding protein kinase alpha (DMPK-like) 1601 actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2) 77 all_cancers(173;0.156)|Prostate(94;0.0792) GATGGATAAGGGAAACCTGGC 0.378000 4 6 0 0 1 0 0 DPPA2 151871 broad.mit.edu 37 3 109027927 109027927 + Splice_Site SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:109027927C>T ENST00000478945.1 - 5 589 c.e5-1 NM_138815.3 NP_620170.3 Q7Z7J5 DPPA2_HUMAN developmental pluripotency associated 2 nucleus nucleic acid binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 CTTCGATTTTCTTAGGAAATG 0.408000 74 123 0 0 1 0 0 COL2A1 1280 broad.mit.edu 37 12 48367985 48367985 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:48367985C>T ENST00000380518.3 - 53 4368 c.4204G>A c.(4204-4206)Gaa>Aaa p.E1402K COL2A1_ENST00000337299.6_Missense_Mutation_p.E1333K|COL2A1_ENST00000493991.1_5'UTR NM_001844.4|NM_033150.2 NP_001835.3|NP_149162.2 P02458 CO2A1_HUMAN collagen, type II, alpha 1 1402 Fibrillar collagen NC1. axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3) 64 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) CCAGCTGCTTCGTCCAGATAG 0.567000 30 31 0 0 1 0 0 BMPER 168667 broad.mit.edu 37 7 34101636 34101636 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:34101636G>A ENST00000297161.2 + 12 1429 c.1055G>A c.(1054-1056)gGa>gAa p.G352E BMPER_ENST00000426693.1_Missense_Mutation_p.G352E NM_133468.4 NP_597725.1 Q8N8U9 BMPER_HUMAN BMP binding endothelial regulator 352 VWFC 5. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 AACAGAAAAGGATGCTGTCCT 0.303000 5 13 0 0 1 0 0 GUSBP3 653188 broad.mit.edu 37 5 68902941 68902941 + RNA SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:68902941C>T ENST00000510264.2 + 0 16 CTCACTGCTTCCTACTAAAGG 0.403000 25 186 0 0 1 0 0 SLIT3 6586 broad.mit.edu 37 5 168233482 168233482 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:168233482G>A ENST00000519560.1 - 9 1323 c.904C>T c.(904-906)Cct>Tct p.P302S SLIT3_ENST00000332966.8_Missense_Mutation_p.P302S|SLIT3_ENST00000404867.3_Missense_Mutation_p.P302S NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 302 LRRNT 2. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AAGTTGGCAGGAATCTCCATC 0.577000 53 46 0 0 1 0 0 HS3ST5 222537 broad.mit.edu 37 6 114378856 114378856 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:114378856C>T ENST00000312719.5 - 5 1794 c.606G>A c.(604-606)agG>agA p.R202R RP3-399L15.3_ENST00000523087.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000519270.1_RNA|HS3ST5_ENST00000411826.1_Silent_p.R202R Q8IZT8 HS3S5_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 5 202 heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 41 all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154) OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143) TTTTGTTCTTCCTCTCCTTCC 0.403000 65 163 0 0 1 0 0 DRP2 1821 broad.mit.edu 37 X 100497448 100497448 + Nonsense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chrX:100497448G>A ENST00000395209.3 + 8 1490 c.963G>A c.(961-963)tgG>tgA p.W321* DRP2_ENST00000402866.1_Nonsense_Mutation_p.W321*|DRP2_ENST00000541709.1_Nonsense_Mutation_p.W243*|DRP2_ENST00000538510.1_Nonsense_Mutation_p.W321* NM_001939.2 NP_001930.2 Q13474 DRP2_HUMAN dystrophin related protein 2 321 central nervous system development cytoplasm|cytoskeleton zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2) 31 ACGTCCGATGGAAACAACTAC 0.493000 66 14 0 0 1 0 0 ADAM28 10863 broad.mit.edu 37 8 24167676 24167676 + Splice_Site SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:24167676G>A ENST00000265769.4 + 4 338 c.227_splice c.e4-1 p.K76_splice ADAM28_ENST00000397649.3_5'UTR|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000437154.2_Splice_Site_p.K76_splice|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000540823.1_5'UTR NM_014265.4 NP_055080.2 Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 76 proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) CTTTCTCCAGGAACCTCCTTG 0.413000 10 21 0 0 1 0 0 LSP1 4046 broad.mit.edu 37 11 1874426 1874426 + Splice_Site SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:1874426G>A ENST00000311604.3 + 1 227 c.53_splice c.e1+1 p.G18_splice NM_002339.2 NP_002330.1 P33241 LSP1_HUMAN lymphocyte-specific protein 1 18 cellular component movement|cellular defense response actin cytoskeleton|Golgi apparatus|plasma membrane actin binding|signal transducer activity haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1) 16 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856) AGAGTTGCTGGGGTAAGGGTC 0.667000 10 20 0 0 1 0 0 TICRR 90381 broad.mit.edu 37 15 90144983 90144983 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr15:90144983C>T ENST00000268138.7 + 12 2448 c.2343C>T c.(2341-2343)atC>atT p.I781I TICRR_ENST00000560985.1_Silent_p.I780I TOPBP1-interacting checkpoint and replication regulator TTGACTCTATCCCAAAGACAC 0.438000 38 82 0 0 1 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113518733 113518733 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:113518733G>A ENST00000284601.3 - 4 2482 c.2414C>T c.(2413-2415)tCa>tTa p.S805L NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 805 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 ACCTAAACGTGATTCCTTTTC 0.383000 26 40 0 0 1 0 0 FAM47A 158724 broad.mit.edu 37 X 34148955 34148955 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chrX:34148955C>T ENST00000346193.3 - 1 1492 c.1441G>A c.(1441-1443)Gaa>Aaa p.E481K NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 481 NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 TTGGGATGTTCCGGGTGGGGA 0.622000 39 10 0 0 1 0 0 DOCK7 85440 broad.mit.edu 37 1 63119728 63119728 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:63119728G>A ENST00000251157.5 - 3 280 c.247C>T c.(247-249)Cct>Tct p.P83S DOCK7_ENST00000340370.5_Missense_Mutation_p.P83S|DOCK7_ENST00000404627.2_Missense_Mutation_p.P83S NM_001271999.1 NP_001258928.1 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 83 activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 92 TCATCTGGAGGAAATTCAATC 0.433000 12 61 0 0 1 0 0 STC2 8614 broad.mit.edu 37 5 172750363 172750363 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:172750363C>T ENST00000265087.4 - 3 1674 c.365G>A c.(364-366)aGc>aAc p.S122N STC2_ENST00000520593.1_5'UTR NM_003714.2 NP_003705.1 O76061 STC2_HUMAN stanniocalcin 2 122 cell surface receptor linked signaling pathway|cell-cell signaling extracellular region hormone activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3) 25 Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) GCACTTCCGGCTTATGCAGCC 0.607000 11 13 0 0 1 0 0 ITPR1 3708 broad.mit.edu 37 3 4859775 4859775 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:4859775G>A ENST00000302640.8 + 59 8182 c.7832G>A c.(7831-7833)aGa>aAa p.R2611K AC018816.3_ENST00000489771.1_Intron|AC018816.3_ENST00000449914.1_Intron|ITPR1_ENST00000357086.4_Missense_Mutation_p.R2578K|ITPR1_ENST00000544951.1_Missense_Mutation_p.R589K|ITPR1_ENST00000354582.6_Missense_Mutation_p.R2611K|AC018816.3_ENST00000441894.1_Intron|ITPR1_ENST00000463980.1_3'UTR|ITPR1_ENST00000456211.2_Missense_Mutation_p.R2563K|ITPR1_ENST00000443694.2_Missense_Mutation_p.R2611K|ITPR1_ENST00000423119.2_Missense_Mutation_p.R2578K NM_001168272.1 NP_001161744.1 Q14643 ITPR1_HUMAN inositol 1,4,5-trisphosphate receptor, type 1 2626 activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2) 106 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) GGCTTGGAAAGAGACAAGTTT 0.438000 6 11 0 0 1 0 0 PRLR 5618 broad.mit.edu 37 5 35065776 35065776 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:35065776G>A ENST00000382002.5 - 10 1710 c.1284C>T c.(1282-1284)tcC>tcT p.S428S PRLR_ENST00000542609.1_Intron|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000342362.5_Silent_p.S327S|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000511486.1_Silent_p.S327S|PRLR_ENST00000310101.5_Intron|PRLR_ENST00000231423.3_Intron NM_000949.5 NP_000940.1 P16471 PRLR_HUMAN prolactin receptor 428 activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation cell surface|extracellular region|integral to membrane metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 all_lung(31;3.83e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052) TGTGGTAAGAGGATCTGGGGT 0.493000 43 146 0 0 1 0 0 KRT19 3880 broad.mit.edu 37 17 39684155 39684155 + Nonsense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr17:39684155C>T ENST00000361566.3 - 1 405 c.345G>A c.(343-345)tgG>tgA p.W115* NM_002276.4 NP_002267.2 keratin 19 breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2) 12 Breast(137;0.00038) GCTTCTGGTACCAGTCGCGGA 0.667000 42 69 0 0 1 0 0 ABCC11 85320 broad.mit.edu 37 16 48201473 48201473 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr16:48201473G>A ENST00000394747.1 - 28 4339 c.3990C>T c.(3988-3990)ctC>ctT p.L1330L ABCC11_ENST00000394748.1_Silent_p.L1330L|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000356608.2_Silent_p.L1330L|ABCC11_ENST00000353782.5_Silent_p.L1292L NM_033151.3 NP_149163.2 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 11 1330 ABC transporter 2. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2) 83 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) GGGCAATGACGAGCACGGTGC 0.567000 43 51 0 0 1 0 0 OR1E2 8388 broad.mit.edu 37 17 3336433 3336433 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr17:3336433G>A ENST00000248384.1 - 1 702 c.703C>T c.(703-705)Ctc>Ttc p.L235F NM_003554.1 NP_003545.1 P47887 OR1E2_HUMAN olfactory receptor, family 1, subfamily E, member 2 235 sensory perception of smell integral to plasma membrane olfactory receptor activity endometrium(3)|large_intestine(3)|lung(3) 9 GGGACCTTGAGGATGGAGGAG 0.473000 12 8 0 0 1 0 0 KLRK1 22914 broad.mit.edu 37 12 10532349 10532349 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:10532349C>T ENST00000240618.6 - 4 331 c.191G>A c.(190-192)gGa>gAa p.G64E RP11-277P12.20_ENST00000500682.1_RNA|KLRC4-KLRK1_ENST00000539300.1_3'UTR|KLRK1_ENST00000540818.1_Missense_Mutation_p.G64E NM_001199805.1|NM_007360.3 NP_001186734.1|NP_031386.2 P26718 NKG2D_HUMAN killer cell lectin-like receptor subfamily K, member 1 64 natural killer cell activation|T cell costimulation integral to plasma membrane sugar binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1) 9 GAAACGGATTCCCATGGCTAC 0.363000 15 9 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168100015 168100015 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:168100015G>A ENST00000409195.1 + 9 2202 c.2113G>A c.(2113-2115)Gga>Aga p.G705R XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.G705R|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.G483R|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 530 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AGATCAACTTGGACAGCTTCA 0.383000 44 60 0 0 1 0 0 SNCAIP 9627 broad.mit.edu 37 5 121759418 121759418 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:121759418G>A ENST00000261367.7 + 6 2555 c.1127G>A c.(1126-1128)gGa>gAa p.G376E SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000379533.2_Missense_Mutation_p.G376E|SNCAIP_ENST00000504884.2_Intron|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000379536.2_Missense_Mutation_p.G329E|SNCAIP_ENST00000261368.8_Missense_Mutation_p.G329E|SNCAIP_ENST00000503116.2_Missense_Mutation_p.G376E Q9Y6H5 SNCAP_HUMAN synuclein, alpha interacting protein 329 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) GTTAAAGAAGGACAGATCTCT 0.413000 12 52 0 0 1 0 0 LPHN3 23284 broad.mit.edu 37 4 62813844 62813844 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr4:62813844C>T ENST00000512091.1 + 16 3198 c.2451C>T c.(2449-2451)aaC>aaT p.N817N LPHN3_ENST00000508693.1_Silent_p.N885N|LPHN3_ENST00000508946.1_Silent_p.N817N|LPHN3_ENST00000514996.1_Silent_p.N817N|LPHN3_ENST00000514591.1_Silent_p.N817N|LPHN3_ENST00000507164.1_Silent_p.N885N|LPHN3_ENST00000506746.1_Silent_p.N885N|LPHN3_ENST00000506720.1_Silent_p.N885N|LPHN3_ENST00000509896.1_Silent_p.N885N|LPHN3_ENST00000545650.1_Silent_p.N817N|LPHN3_ENST00000511324.1_Silent_p.N885N|LPHN3_ENST00000504896.1_Silent_p.N817N|LPHN3_ENST00000514157.1_Silent_p.N817N|LPHN3_ENST00000507625.1_Silent_p.N885N|LPHN3_ENST00000506700.1_Silent_p.N817N Q9HAR2 LPHN3_HUMAN latrophilin 3 804 GPS. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 TCAACCCTAACTGTTCATTTT 0.378000 10 14 0 0 1 0 0 FSTL5 56884 broad.mit.edu 37 4 162307132 162307132 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr4:162307132G>A ENST00000306100.5 - 16 2747 c.2311C>T c.(2311-2313)Ctc>Ttc p.L771F FSTL5_ENST00000379164.4_Missense_Mutation_p.L770F|RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000427802.2_Missense_Mutation_p.L761F|FSTL5_ENST00000536695.1_Missense_Mutation_p.L770F NM_001128427.2|NM_020116.4 NP_001121899.1|NP_064501.2 Q8N475 FSTL5_HUMAN follistatin-like 5 771 extracellular region calcium ion binding central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) CCAGAAGAGAGCTCCACAAAG 0.458000 59 25 0 0 1 0 0 CXCR2 3579 broad.mit.edu 37 2 218999717 218999717 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:218999717G>A ENST00000318507.2 + 3 620 c.193G>A c.(193-195)Gga>Aga p.G65R NM_001557.3 NP_001548.1 P25025 CXCR2_HUMAN chemokine (C-X-C motif) receptor 2 65 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation cell surface|integral to plasma membrane|mast cell granule interleukin-8 receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1) 22 GAGCCTGCTGGGAAACTCCCT 0.512000 39 102 0 0 1 0 0 ERBB2IP 55914 broad.mit.edu 37 5 65319138 65319138 + Silent SNP A A T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:65319138A>T ENST00000284037.5 + 9 1007 c.618A>T c.(616-618)ctA>ctT p.L206L ERBB2IP_ENST00000380935.1_Silent_p.L206L|ERBB2IP_ENST00000380939.2_Silent_p.L206L|ERBB2IP_ENST00000416865.2_Silent_p.L206L|ERBB2IP_ENST00000511297.1_Silent_p.L206L|ERBB2IP_ENST00000380936.1_Silent_p.L206L|ERBB2IP_ENST00000508515.1_Silent_p.L206L|ERBB2IP_ENST00000380938.2_Silent_p.L206L|ERBB2IP_ENST00000506030.1_Silent_p.L206L|ERBB2IP_ENST00000380943.2_Silent_p.L206L NM_001253697.1 NP_001240626.1 Q96RT1 LAP2_HUMAN erbb2 interacting protein 206 basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization basement membrane|cytoplasm|hemidesmosome|nucleus ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2) 36 Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234) UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191) TTGAGCAACTAAGTGGATTGA 0.383000 33 33 0 0 1 0 0 CCDC33 80125 broad.mit.edu 37 15 74627332 74627332 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr15:74627332G>A ENST00000321288.5 + 21 2753 c.2753G>A c.(2752-2754)cGa>cAa p.R918Q CCDC33_ENST00000398814.3_Missense_Mutation_p.R681Q|CCDC33_ENST00000268082.4_Missense_Mutation_p.R308Q|CCDC33_ENST00000558821.1_Missense_Mutation_p.R274Q Q8N5R6 CCD33_HUMAN coiled-coil domain containing 33 884 protein binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 GACTCAGCTCGACGCTGGGGA 0.577000 19 49 0 0 1 0 0 CARF 79800 broad.mit.edu 37 2 203826218 203826218 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:203826218C>T ENST00000444724.1 + 8 1181 c.901C>T c.(901-903)Cct>Tct p.P301S CARF_ENST00000438828.2_Intron|CARF_ENST00000434998.1_Missense_Mutation_p.P199S|WDR12_ENST00000477723.1_Intron|CARF_ENST00000320443.8_Intron|CARF_ENST00000428585.1_Intron|CARF_ENST00000456821.2_Intron|CARF_ENST00000545262.1_Intron|CARF_ENST00000545253.1_Intron|CARF_ENST00000471271.1_Intron|CARF_ENST00000402905.2_Intron|CARF_ENST00000414439.1_Intron calcium responsive transcription factor ATGTGATTTTCCTAAGGTGAT 0.269000 3 1 0 0 1 0 0 OR1A1 8383 broad.mit.edu 37 17 3119592 3119592 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr17:3119592G>A ENST00000304094.1 + 1 678 c.678G>A c.(676-678)caG>caA p.Q226Q NM_014565.2 NP_055380.2 Q9P1Q5 OR1A1_HUMAN olfactory receptor, family 1, subfamily A, member 1 226 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.Q226Q(1) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 23 CAGTCTTCCAGGTTCCTTCCA 0.478000 71 38 0 0 1 0 0 SH2B1 25970 broad.mit.edu 37 16 28884917 28884917 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr16:28884917G>A ENST00000322610.8 + 11 2486 c.2047G>A c.(2047-2049)Gcg>Acg p.A683T SH2B1_ENST00000538342.1_3'UTR|SH2B1_ENST00000337120.5_3'UTR|SH2B1_ENST00000563674.1_3'UTR|SH2B1_ENST00000545570.1_3'UTR|SH2B1_ENST00000359285.5_3'UTR|SH2B1_ENST00000395532.4_3'UTR Q9NRF2 SH2B1_HUMAN SH2B adaptor protein 1 683 blood coagulation|intracellular signal transduction cytosol|membrane|nucleus signal transducer activity endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 GAAAGAGAAAGCGGGCGGTGG 0.657000 2 0 0 0 1 0 0 KIF13B 23303 broad.mit.edu 37 8 28974478 28974478 + Missense_Mutation SNP T T C TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:28974478T>C ENST00000524189.1 - 31 3745 c.3707A>G c.(3706-3708)cAg>cGg p.Q1236R CTD-2647L4.1_ENST00000523661.1_RNA NM_015254.3 NP_056069.2 Q9NQT8 KI13B_HUMAN kinesin family member 13B 1236 microtubule-based movement|protein targeting|signal transduction|T cell activation cytoplasm|microtubule ATP binding|microtubule motor activity|protein kinase binding endometrium(6)|kidney(1)|lung(20)|urinary_tract(1) 28 Ovarian(32;0.000536) KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181) CCTGCTGAGCTGAGGGCAGCC 0.582000 41 57 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23896804 23896804 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr14:23896804C>T ENST00000355349.3 - 16 2040 c.1878G>A c.(1876-1878)ggG>ggA p.G626G NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 626 Myosin head-like. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) GCGCATCAGCCCCAGCATAGT 0.542000 25 6 0 0 1 0 0 CEP89 84902 broad.mit.edu 37 19 33457303 33457303 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:33457303G>A ENST00000305768.4 - 2 197 c.109C>T c.(109-111)Cct>Tct p.P37S CEP89_ENST00000590597.1_Missense_Mutation_p.P37S NM_032816.3 NP_116205.3 Q96ST8 CEP89_HUMAN centrosomal protein 89kDa 37 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 CTGCGGGGAGGAGGTGTGCGT 0.557000 17 24 0 0 1 0 0 CCDC33 80125 broad.mit.edu 37 15 74574143 74574143 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr15:74574143G>A ENST00000321288.5 + 12 1657 c.1657G>A c.(1657-1659)Gat>Aat p.D553N CCDC33_ENST00000398814.3_Missense_Mutation_p.D350N Q8N5R6 CCD33_HUMAN coiled-coil domain containing 33 553 protein binding p.D553N(1)|p.D350N(1) breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 AACTATCAATGATGAGGCCCC 0.592000 53 42 0 0 1 0 0 EIF4G3 8672 broad.mit.edu 37 1 21177808 21177808 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:21177808C>T ENST00000602326.1 - 26 4148 c.3565G>A c.(3565-3567)Ggt>Agt p.G1189S EIF4G3_ENST00000536266.1_Missense_Mutation_p.G787S|EIF4G3_ENST00000374937.3_Missense_Mutation_p.G1189S|EIF4G3_ENST00000264211.8_Missense_Mutation_p.G1183S|EIF4G3_ENST00000537738.1_Missense_Mutation_p.G673S|EIF4G3_ENST00000374935.3_Missense_Mutation_p.G903S|EIF4G3_ENST00000400422.1_Missense_Mutation_p.G1183S NM_001198802.1 NP_001185731.1 O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 gamma, 3 1183 interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|RNA cap binding|translation initiation factor activity endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3) 70 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) ACATCCACACCTCCTGTGAGC 0.488000 30 126 0 0 1 0 0 OR8U1 219417 broad.mit.edu 37 11 56143765 56143765 + Missense_Mutation SNP T T G TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:56143765T>G ENST00000302270.1 + 1 666 c.666T>G c.(664-666)atT>atG p.I222M NM_001005204.1 NP_001005204.1 olfactory receptor, family 8, subfamily U, member 1 NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1) 39 Esophageal squamous(21;0.00448) TGTTCATCATTTCTGCCATCC 0.488000 39 50 0 0 1 0 0 TECRL 253017 broad.mit.edu 37 4 65155440 65155440 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr4:65155440G>A ENST00000381210.3 - 9 930 c.820C>T c.(820-822)Ccc>Tcc p.P274S TECRL_ENST00000507440.1_Missense_Mutation_p.P274S NM_001010874.4 NP_001010874.2 Q5HYJ1 TECRL_HUMAN trans-2,3-enoyl-CoA reductase-like 274 lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1) 47 GTGTGATTGGGATGAGACAAC 0.274000 3 18 0 0 1 0 0 KCNC2 3747 broad.mit.edu 37 12 75434918 75434918 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:75434918C>T ENST00000341669.3 - 5 2392 c.1849G>A c.(1849-1851)Gac>Aac p.D617N KCNC2_ENST00000350228.2_3'UTR|KCNC2_ENST00000549446.1_3'UTR|RP11-81K13.1_ENST00000549762.1_RNA|RP11-81K13.1_ENST00000550049.1_RNA|KCNC2_ENST00000548513.1_3'UTR|RP11-81K13.1_ENST00000547040.1_RNA|KCNC2_ENST00000550433.1_Missense_Mutation_p.D617N|KCNC2_ENST00000298972.1_3'UTR NM_001260498.1 NP_001247427.1 Q96PR1 KCNC2_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 2 0 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex voltage-gated potassium channel activity breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 54 CCAGTATAGTCCTTGGTATGG 0.443000 10 23 0 0 1 0 0 PCDHB10 56126 broad.mit.edu 37 5 140574328 140574328 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:140574328C>T ENST00000239446.4 + 1 2387 c.2203C>T c.(2203-2205)Cca>Tca p.P735S NM_018930.3 NP_061753.1 Q9UN67 PCDBA_HUMAN 735 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 76 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGGTCCTTTTCCAGGGCATCT 0.657000 46 87 0 0 1 0 0 BBX 56987 broad.mit.edu 37 3 107492197 107492197 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:107492197C>T ENST00000415149.2 + 11 1956 c.1629C>T c.(1627-1629)tcC>tcT p.S543S BBX_ENST00000402543.1_Silent_p.S543S|BBX_ENST00000416476.2_Intron|BBX_ENST00000406780.1_Silent_p.S543S|BBX_ENST00000325805.8_Silent_p.S543S NM_001142568.1|NM_020235.5 NP_001136040.1|NP_064620.2 Q8WY36 BBX_HUMAN bobby sox homolog (Drosophila) 543 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.S543S(1) breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2) 49 OV - Ovarian serous cystadenocarcinoma(3;0.112) AGGAGAAATCCTCAGACACCA 0.428000 25 39 0 0 1 0 0 CD109 135228 broad.mit.edu 37 6 74491024 74491024 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:74491024G>A ENST00000437994.2 + 17 2376 c.1945G>A c.(1945-1947)Gat>Aat p.D649N CD109_ENST00000422508.2_Missense_Mutation_p.D572N|CD109_ENST00000287097.5_Missense_Mutation_p.D649N NM_001159587.1|NM_133493.3 NP_001153059.1|NP_598000.2 Q6YHK3 CD109_HUMAN CD109 molecule 649 Bait region (approximate) (By similarity). anchored to membrane|extracellular space|plasma membrane serine-type endopeptidase inhibitor activity NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 CCTCACGAAGGATTATATTGA 0.294000 8 16 0 0 1 0 0 OR8B3 390271 broad.mit.edu 37 11 124267062 124267062 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:124267062G>A ENST00000354597.3 - 1 202 c.186C>T c.(184-186)ttC>ttT p.F62F NM_001005467.1 NP_001005467.1 Q8NGG8 OR8B3_HUMAN olfactory receptor, family 8, subfamily B, member 3 62 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 14 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) GATTGAAGAGGAAATAGTACA 0.383000 31 71 0 0 1 0 0 TGFBR3 7049 broad.mit.edu 37 1 92185652 92185652 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:92185652G>A ENST00000212355.4 - 9 1676 c.1211C>T c.(1210-1212)cCt>cTt p.P404L TGFBR3_ENST00000370399.2_Missense_Mutation_p.P403L|TGFBR3_ENST00000525962.1_Missense_Mutation_p.P404L NM_001195683.1|NM_003243.4 NP_001182612.1|NP_003234.2 Q03167 TGBR3_HUMAN transforming growth factor, beta receptor III 404 BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3) 55 all_lung(203;0.00719)|Lung NSC(277;0.0268) all cancers(265;0.0108)|Epithelial(280;0.0825) ATCTGGGAAAGGAAACGGAAG 0.587000 17 60 0 0 1 0 0 DDX60L 91351 broad.mit.edu 37 4 169362491 169362491 + Nonsense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr4:169362491G>A ENST00000511577.1 - 10 1538 c.1291C>T c.(1291-1293)Caa>Taa p.Q431* DDX60L_ENST00000260184.7_Nonsense_Mutation_p.Q431*|DDX60L_ENST00000505890.1_Nonsense_Mutation_p.Q431* Q5H9U9 DDX6L_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like 431 ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.175) TTAGTACCTTGAATGACCGAT 0.333000 9 52 0 0 1 0 0 MLIP 90523 broad.mit.edu 37 6 53986346 53986346 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:53986346C>T ENST00000514921.1 + 2 278 c.165C>T c.(163-165)ttC>ttT p.F55F MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000509997.1_Intron|MLIP_ENST00000358276.5_Silent_p.F49F|MLIP_ENST00000502396.1_Silent_p.F66F|MLIP_ENST00000370877.2_Intron|MLIP_ENST00000274897.5_Silent_p.F55F|MLIP_ENST00000370876.2_Intron Q5VWP3 MLIP_HUMAN muscular LMNA-interacting protein 55 nuclear envelope|PML body protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1) 34 CCTCTAAATTCCTTGTTAAAA 0.358000 30 41 0 0 1 0 0 VIL1 7429 broad.mit.edu 37 2 219294109 219294109 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:219294109G>A ENST00000248444.5 + 7 757 c.669G>A c.(667-669)atG>atA p.M223I VIL1_ENST00000440053.1_Missense_Mutation_p.M223I|VIL1_ENST00000392114.2_Intron NM_007127.2 NP_009058.2 P09327 VILI_HUMAN villin 1 223 Core. actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Renal(207;0.0474) Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CGAAGCTGATGGAGGTGATGA 0.627000 35 72 0 0 1 0 0 SERPINB10 5273 broad.mit.edu 37 18 61587099 61587099 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr18:61587099C>T ENST00000238508.3 + 5 509 c.450C>T c.(448-450)atC>atT p.I150I NM_005024.1 NP_005015.1 serpin peptidase inhibitor, clade B (ovalbumin), member 10 breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2) 24 Esophageal squamous(42;0.131) CTGATCAAATCAGAAAGGACA 0.388000 16 26 0 0 1 0 0 SLC44A2 57153 broad.mit.edu 37 19 10747058 10747058 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:10747058C>T ENST00000586078.1 + 15 1402 c.1293C>T c.(1291-1293)ttC>ttT p.F431F SLC44A2_ENST00000335757.5_Silent_p.F431F|SLC44A2_ENST00000407327.4_Silent_p.F429F NM_020428.3 NP_065161.3 Q8IWA5 CTL2_HUMAN solute carrier family 44 (choline transporter), member 2 431 positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane|plasma membrane choline transmembrane transporter activity|signal transducer activity NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 27 Epithelial(33;8.7e-06)|all cancers(31;2.77e-05) Choline(DB00122) AGTTCGCCTTCTACGGTGGTG 0.607000 45 48 0 0 1 0 0 HS6ST3 266722 broad.mit.edu 37 13 97484989 97484989 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr13:97484989G>A ENST00000376705.2 + 2 977 c.953G>A c.(952-954)aGc>aAc p.S318N NM_153456.3 NP_703157.2 Q8IZP7 H6ST3_HUMAN heparan sulfate 6-O-sulfotransferase 3 318 integral to membrane sulfotransferase activity NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1) 20 all_neural(89;0.0878)|Medulloblastoma(90;0.163) GCTGACCTCAGCCTGGTGGGC 0.512000 45 40 0 0 1 0 0 ARFGAP1 55738 broad.mit.edu 37 20 61917767 61917767 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr20:61917767C>T ENST00000370275.4 + 13 1215 c.1123C>T c.(1123-1125)Cgg>Tgg p.R375W ARFGAP1_ENST00000370283.4_Missense_Mutation_p.S295L|ARFGAP1_ENST00000353546.3_Missense_Mutation_p.S303L|ARFGAP1_ENST00000519604.1_Missense_Mutation_p.S250L|ARFGAP1_ENST00000519273.2_Missense_Mutation_p.S182L|ARFGAP1_ENST00000518794.2_3'UTR|ARFGAP1_ENST00000547204.1_Missense_Mutation_p.S229L Q8N6T3 ARFG1_HUMAN ADP-ribosylation factor GTPase activating protein 1 0 COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER cytosol|Golgi-associated vesicle membrane ARF GTPase activator activity|zinc ion binding endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1) 13 all_cancers(38;1.59e-09) ACCTTTTTTTCGGGGAAAGCA 0.627000 9 53 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55913000 55913000 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr10:55913000G>A ENST00000373965.2 - 15 2059 c.1665C>T c.(1663-1665)atC>atT p.I555I PCDH15_ENST00000437009.1_Silent_p.I548I|PCDH15_ENST00000395432.2_Silent_p.I511I|PCDH15_ENST00000395430.1_Silent_p.I548I|PCDH15_ENST00000320301.6_Silent_p.I548I|PCDH15_ENST00000361849.3_Silent_p.I548I|PCDH15_ENST00000414778.1_Silent_p.I553I|PCDH15_ENST00000395446.1_Silent_p.I548I|PCDH15_ENST00000395438.1_Silent_p.I548I|PCDH15_ENST00000395445.1_Silent_p.I555I|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373957.3_Silent_p.I526I|PCDH15_ENST00000373955.1_Silent_p.I548I|PCDH15_ENST00000409834.1_Silent_p.I159I|PCDH15_ENST00000395433.1_Silent_p.I526I|PCDH15_ENST00000395442.1_Intron NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 548 Cadherin 5. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) CCCCAACAAGGATTTCATATG 0.473000 HNSCC(58;0.16) 33 14 0 0 1 0 0 MTF1 4520 broad.mit.edu 37 1 38281084 38281084 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:38281084G>A ENST00000373036.4 - 11 2126 c.1986C>T c.(1984-1986)agC>agT p.S662S NM_005955.2 NP_005946.2 Q14872 MTF1_HUMAN metal-regulatory transcription factor 1 662 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1) 31 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) GAGCCTGGGGGCTCGGCTCTG 0.637000 18 50 0 0 1 0 0 FLT4 2324 broad.mit.edu 37 5 180049771 180049771 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:180049771C>T ENST00000261937.6 - 12 1695 c.1617G>A c.(1615-1617)aaG>aaA p.K539K FLT4_ENST00000393347.3_Silent_p.K539K|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Silent_p.K539K NM_182925.4 NP_891555.2 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 539 Ig-like C2-type 5. positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) CCTGGCCCACCTTGTTGGAGA 0.577000 14 29 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 3855603 3855603 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:3855603C>T ENST00000602557.1 - 5 1195 c.640G>A c.(640-642)Ggg>Agg p.G214R CSMD1_ENST00000602723.1_Missense_Mutation_p.G214R|CSMD1_ENST00000520002.1_Missense_Mutation_p.G214R|CSMD1_ENST00000542608.1_Missense_Mutation_p.G214R|CSMD1_ENST00000400186.3_Missense_Mutation_p.G214R|CSMD1_ENST00000539096.1_Missense_Mutation_p.G214R|CSMD1_ENST00000537824.1_Missense_Mutation_p.G214R Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 214 CUB 2. integral to membrane p.G214R(1) breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CTGCTGGTCCCGCGTAAGGTT 0.572000 3 7 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181706661 181706661 + Splice_Site SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:181706661G>A ENST00000526775.1 + 22 3531 c.3365_splice c.e22-1 p.P1122_splice CACNA1E_ENST00000357570.5_Splice_Site_p.P1092_splice|CACNA1E_ENST00000367573.2_Splice_Site_p.P1141_splice|CACNA1E_ENST00000360108.3_Splice_Site_p.P1122_splice|CACNA1E_ENST00000367567.4_Splice_Site_p.P748_splice|CACNA1E_ENST00000358338.5_Splice_Site_p.P1073_splice|CACNA1E_ENST00000367570.1_Splice_Site_p.P1141_splice NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1141 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 CTGCCCGCAGGATCCGGAGGG 0.622000 5 76 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 20966216 20966216 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr16:20966216C>T ENST00000261383.3 - 55 10989 c.10990G>A c.(10990-10992)Gcg>Acg p.A3664T DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 3664 AAA 6 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) CACATCACCGCCTTTGCACAG 0.522000 51 66 0 0 1 0 0 PRB4 5545 broad.mit.edu 37 12 11461252 11461252 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:11461252C>T ENST00000279575.1 - 3 698 c.665G>A c.(664-666)gGa>gAa p.G222E PRB4_ENST00000535904.1_Missense_Mutation_p.G222E|PRB4_ENST00000445719.2_Missense_Mutation_p.G153E NM_001261399.1|NM_002723.4 NP_001248328.1|NP_002714.2 P10163 PRB4_HUMAN proline-rich protein BstNI subfamily 4 285 9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G. extracellular region breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3) 30 CTGGGGCTTTCCAGCAGGAGG 0.627000 HNSCC(22;0.051) 105 100 0 0 1 0 0 HIC2 23119 broad.mit.edu 37 22 21800043 21800043 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr22:21800043C>T ENST00000443632.2 + 2 1231 c.859C>T c.(859-861)Cct>Tct p.P287S HIC2_ENST00000407464.2_Missense_Mutation_p.P287S|HIC2_ENST00000407598.2_Missense_Mutation_p.P287S Q96JB3 HIC2_HUMAN hypermethylated in cancer 2 287 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent focal adhesion|nucleus DNA binding|protein C-terminus binding|zinc ion binding NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968) Lung SC(17;0.0262)|all_lung(157;0.205) GGCCTCTGCTCCTCCCGTTGC 0.672000 43 65 0 0 1 0 0 HTR2A 3356 broad.mit.edu 37 13 47469826 47469826 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr13:47469826C>T ENST00000378688.4 - 1 347 c.216G>A c.(214-216)caG>caA p.Q72Q HTR2A_ENST00000542664.1_Silent_p.Q72Q|HTR2A_ENST00000543956.1_Intron P28223 5HT2A_HUMAN 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled 72 ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission integral to plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333) GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224) Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) AGTTTTTTTCCTGGAGATGAA 0.453000 43 46 0 0 1 0 0 FER1L6 654463 broad.mit.edu 37 8 125088481 125088481 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:125088481C>T ENST00000522917.1 + 32 4341 c.4135C>T c.(4135-4137)Ccc>Tcc p.P1379S FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.P1379S NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 1379 C2 5. 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) CAAATCAGATCCCTACATTGT 0.413000 67 104 0 0 1 0 0 RSPO4 343637 broad.mit.edu 37 20 944609 944609 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr20:944609C>T ENST00000217260.4 - 4 660 c.564G>A c.(562-564)agG>agA p.R188R RSPO4_ENST00000400634.2_Intron NM_001029871.3 NP_001025042.2 Q2I0M5 RSPO4_HUMAN R-spondin 4 188 TSP type-1. Wnt receptor signaling pathway extracellular region heparin binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3) 7 TGGGACATTTCCTTGACTCAG 0.667000 38 30 0 0 1 0 0 RPL3L 6123 broad.mit.edu 37 16 1997207 1997207 + Nonsense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr16:1997207G>A ENST00000268661.7 - 5 770 c.676C>T c.(676-678)Cga>Tga p.R226* NM_005061.2 NP_005052.1 Q92901 RL3L_HUMAN ribosomal protein L3-like 226 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|ribosome RNA binding|structural constituent of ribosome NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 17 TTGACGCCTCGACCCTTGGTG 0.647000 49 66 0 0 1 0 0 SPERT 220082 broad.mit.edu 37 13 46287652 46287652 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr13:46287652G>A ENST00000378966.3 + 2 800 c.384G>A c.(382-384)aaG>aaA p.K128K SPERT_ENST00000310521.1_Silent_p.K164K Q8NA61 SPERT_HUMAN spermatid associated 164 cytoplasmic membrane-bounded vesicle NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 15 Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;7.26e-05) GGCTGGCCAAGGAGTGCATGC 0.597000 56 57 0 0 1 0 0 FYB 2533 broad.mit.edu 37 5 39202604 39202604 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:39202604C>T ENST00000351578.6 - 2 649 c.459G>A c.(457-459)ccG>ccA p.P153P FYB_ENST00000512982.1_Silent_p.P153P|FYB_ENST00000515010.1_Silent_p.P153P|FYB_ENST00000540520.1_Silent_p.P163P|FYB_ENST00000505428.1_Silent_p.P153P NM_199335.3 NP_955367.1 O15117 FYB_HUMAN FYN binding protein 153 cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway cytosol|nucleus protein binding endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1) 45 all_lung(31;0.000343) Epithelial(62;0.235) GCCCAGATTTCGGGCCTAGTG 0.458000 105 57 0 0 1 0 0 HOXB3 3213 broad.mit.edu 37 17 46627775 46627775 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr17:46627775G>A ENST00000470495.1 - 2 2664 c.1217C>T c.(1216-1218)aCc>aTc p.T406I HOXB3_ENST00000472863.1_Missense_Mutation_p.T333I|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000489475.1_Missense_Mutation_p.T333I|HOXB3_ENST00000485909.2_Missense_Mutation_p.T274I|HOXB3_ENST00000311626.4_Missense_Mutation_p.T406I|HOXB-AS1_ENST00000502764.2_RNA|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000490677.1_Missense_Mutation_p.T272I|HOXB3_ENST00000498678.1_Missense_Mutation_p.T406I|HOXB3_ENST00000476342.1_Missense_Mutation_p.T406I|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000460160.1_Missense_Mutation_p.T274I P14651 HXB3_HUMAN homeobox B3 406 angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1) 30 GTCTGTGTAGGTGGGGTGGGG 0.612000 OREG0024516 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 53 71 0 0 1 0 0 FUT9 10690 broad.mit.edu 37 6 96651991 96651991 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:96651991G>A ENST00000302103.5 + 3 1286 c.960G>A c.(958-960)aaG>aaA p.K320K NM_006581.3 NP_006572.2 Q9Y231 FUT9_HUMAN fucosyltransferase 9 (alpha (1,3) fucosyltransferase) 320 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356) BRCA - Breast invasive adenocarcinoma(108;0.08) ACTGGAGGAAGGATTTCACTG 0.368000 22 51 0 0 1 0 0 PKN1 5585 broad.mit.edu 37 19 14557315 14557315 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:14557315C>T ENST00000242783.6 + 4 717 c.552C>T c.(550-552)ctC>ctT p.L184L PKN1_ENST00000342216.4_Silent_p.L190L NM_002741.3 NP_002732.3 Q16512 PKN1_HUMAN protein kinase N1 184 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 GCATGCAACTCCGCCGGGCGC 0.612000 23 98 0 0 1 0 0 ESYT1 23344 broad.mit.edu 37 12 56522221 56522221 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:56522221G>A ENST00000394048.5 + 1 382 c.118G>A c.(118-120)Ggc>Agc p.G40S RP11-603J24.5_ENST00000550947.1_RNA|ESYT1_ENST00000267113.4_Missense_Mutation_p.G40S|RP11-603J24.5_ENST00000549438.1_RNA|ESYT1_ENST00000541590.1_Missense_Mutation_p.G40S NM_001184796.1|NM_015292.2 NP_001171725.1|NP_056107.1 Q9BSJ8 ESYT1_HUMAN extended synaptotagmin-like protein 1 40 integral to membrane breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1) 28 AGGTTCTGGGGGCCAACCTGC 0.697000 6 11 0 0 1 0 0 CCT8 10694 broad.mit.edu 37 21 30437396 30437396 + Missense_Mutation SNP G G C TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr21:30437396G>C ENST00000286788.4 - 7 861 c.655C>G c.(655-657)Cat>Gat p.H219D CCT8_ENST00000470450.1_5'UTR|CCT8_ENST00000542732.1_Missense_Mutation_p.H200D|CCT8_ENST00000540844.1_Missense_Mutation_p.H146D NM_006585.2 NP_006576.2 P50990 TCPQ_HUMAN chaperonin containing TCP1, subunit 8 (theta) 219 'de novo' posttranslational protein folding aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center ATP binding|ATPase activity, coupled|unfolded protein binding breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3) 14 ACCATGCCATGCAATACTGAA 0.388000 25 47 0 0 1 0 0 KLHL20 27252 broad.mit.edu 37 1 173702945 173702945 + Missense_Mutation SNP A A T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:173702945A>T ENST00000209884.4 + 3 253 c.117A>T c.(115-117)caA>caT p.Q39H KLHL20_ENST00000546011.1_Intron|KLHL20_ENST00000493170.1_3'UTR NM_014458.3 NP_055273.2 Q9Y2M5 KLH20_HUMAN kelch-like family member 20 39 cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body actin binding|interferon-gamma binding|ubiquitin-protein ligase activity breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1) 34 GGGTTCCCCAACCTGCCCGCA 0.527000 86 29 0 0 1 0 0 CNTN5 53942 broad.mit.edu 37 11 100221556 100221556 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:100221556G>A ENST00000524871.1 + 24 3444 c.3154G>A c.(3154-3156)Gga>Aga p.G1052R CNTN5_ENST00000418526.2_Missense_Mutation_p.G978R|CNTN5_ENST00000528682.1_Missense_Mutation_p.G1052R|CNTN5_ENST00000279463.3_Missense_Mutation_p.G1052R|CNTN5_ENST00000524560.1_3'UTR NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 1052 Fibronectin type-III 4. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) TAGTGAAGGAGGAGATGGAAC 0.393000 25 41 0 0 1 0 0 PKP2 5318 broad.mit.edu 37 12 33030890 33030890 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:33030890G>A ENST00000340811.4 - 3 1032 c.924C>T c.(922-924)gtC>gtT p.V308V PKP2_ENST00000070846.6_Silent_p.V308V NM_001005242.2 NP_001005242.2 Q99959 PKP2_HUMAN plakophilin 2 308 cell-cell adhesion desmosome|integral to membrane|nucleus binding NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 50 Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) AATCCACGGCGACACTGGGCC 0.637000 33 28 0 0 1 0 0 ATP9A 10079 broad.mit.edu 37 20 50226648 50226648 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr20:50226648G>A ENST00000338821.5 - 24 2892 c.2628C>T c.(2626-2628)ctC>ctT p.L876L ATP9A_ENST00000402822.1_Silent_p.L755L|ATP9A_ENST00000311637.5_Silent_p.L740L NM_006045.1 NP_006036.1 O75110 ATP9A_HUMAN ATPase, class II, type 9A 876 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 ACCCAATGATGAGGAATCCTT 0.433000 14 32 0 0 1 0 0 ERC2 26059 broad.mit.edu 37 3 56468457 56468457 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:56468457C>T ENST00000288221.6 - 2 834 c.579G>A c.(577-579)gaG>gaA p.E193E NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 193 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) TCAAGACTCTCTCCTTCTTAA 0.468000 47 57 0 0 1 0 0 CYYR1 116159 broad.mit.edu 37 21 27945290 27945290 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr21:27945290G>A ENST00000435845.2 - 1 313 c.294C>T c.(292-294)ccC>ccT p.P98P CYYR1_ENST00000400043.3_5'UTR|CYYR1_ENST00000299340.4_5'UTR Q96J86 CYYR1_HUMAN cysteine/tyrosine-rich 1 139 integral to membrane large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 15 TTGGAGCGAAGGGAGAGCCCG 0.647000 22 29 0 0 1 0 0 GABRP 2568 broad.mit.edu 37 5 170222292 170222292 + Silent SNP G G A rs41315922 TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:170222292G>A ENST00000518525.1 + 6 785 c.321G>A c.(319-321)ctG>ctA p.L107L GABRP_ENST00000519385.1_Silent_p.L107L|GABRP_ENST00000519598.1_Silent_p.L107L|GABRP_ENST00000265294.4_Silent_p.L107L O00591 GBRP_HUMAN gamma-aminobutyric acid (GABA) A receptor, pi 107 cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 29 Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GCTTCACTCTGGATGCCCGCC 0.567000 18 159 0 0 1 0 0 MT1JP 4498 broad.mit.edu 37 16 56670343 56670343 + RNA SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr16:56670343C>T ENST00000564564.1 + 0 669 TTTTCCTCTTCCTTGCAGGTG 0.582000 18 42 0 0 1 0 0 ALOX5 240 broad.mit.edu 37 10 45924212 45924212 + Splice_Site SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr10:45924212G>A ENST00000374391.2 + 7 1034 c.981_splice c.e7+1 p.Q327_splice ALOX5_ENST00000542434.1_Splice_Site_p.Q327_splice NM_000698.3|NM_001256153.1 NP_000689.1|NP_001243082.1 P09917 LOX5_HUMAN arachidonate 5-lipoxygenase 327 Lipoxygenase. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 Lung SC(717;0.0257) Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744) TTGCCATCCAGGTAGGCTGCT 0.567000 20 9 0 0 1 0 0 ABCC2 1244 broad.mit.edu 37 10 101590492 101590492 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr10:101590492C>T ENST00000370449.4 + 21 2880 c.2767C>T c.(2767-2769)Cat>Tat p.H923Y NM_000392.3 NP_000383.1 Q92887 MRP2_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 2 923 apical plasma membrane|integral to plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 67 Colorectal(252;0.234) Epithelial(162;2.77e-10)|all cancers(201;2.47e-08) Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) CAATGGCAGGCATCTGAAGTC 0.463000 25 21 0 0 1 0 0 NEGR1 257194 broad.mit.edu 37 1 72400827 72400827 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:72400827G>A ENST00000357731.4 - 2 583 c.344C>T c.(343-345)cCa>cTa p.P115L NEGR1_ENST00000306821.3_5'UTR|NEGR1_ENST00000467479.1_5'UTR|NEGR1_ENST00000434200.1_Missense_Mutation_p.P113L NM_173808.2 NP_776169.2 Q7Z3B1 NEGR1_HUMAN neuronal growth regulator 1 115 Ig-like C2-type 1. cell adhesion anchored to membrane|plasma membrane endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117) KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242) ACACGTGTATGGGCCATCATC 0.418000 33 20 0 0 1 0 0 BLMH 642 broad.mit.edu 37 17 28598321 28598321 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr17:28598321G>A ENST00000261714.6 - 10 1288 c.1114C>T c.(1114-1116)Cac>Tac p.H372Y BLMH_ENST00000394819.3_Missense_Mutation_p.H285Y NM_000386.3 NP_000377.1 Q13867 BLMH_HUMAN bleomycin hydrolase 372 proteolysis cytoplasm|nucleus aminopeptidase activity|carboxypeptidase activity|cysteine-type endopeptidase activity|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1) 13 GTCATGGCGTGGGTCATAAGT 0.453000 15 38 0 0 1 0 0 DSG2 1829 broad.mit.edu 37 18 29122620 29122620 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr18:29122620G>A ENST00000261590.8 + 14 2348 c.2139G>A c.(2137-2139)gaG>gaA p.E713E RP11-75N4.2_ENST00000583706.1_RNA NM_001943.3 NP_001934.2 Q14126 DSG2_HUMAN desmoglein 2 713 E -> K. cellular component disassembly involved in apoptosis|homophilic cell adhesion desmosome|integral to membrane calcium ion binding breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(10;0.0068) AGATGTCCGAGATGGATGGAA 0.502000 43 71 0 0 1 0 0 ROBO4 54538 broad.mit.edu 37 11 124766094 124766094 + Splice_Site SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:124766094C>T ENST00000306534.3 - 4 1164 c.679_splice c.e4+1 p.E227_splice ROBO4_ENST00000533054.1_Splice_Site_p.E82_splice|ROBO4_ENST00000526899.1_5'UTR NM_019055.5 NP_061928.4 Q8WZ75 ROBO4_HUMAN roundabout, axon guidance receptor, homolog 4 (Drosophila) 227 angiogenesis|cell differentiation integral to membrane receptor activity NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3) 76 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) CTGCCCTTACCCTGGATGGAA 0.597000 25 61 0 0 1 0 0 HERC2P3 283755 broad.mit.edu 37 15 20643923 20643923 + RNA SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr15:20643923G>A ENST00000428453.1 - 0 3536 central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 CCTTCAGGGTGATGCGAGTCA 0.542000 15 60 0 0 1 0 0 HSD3B7 80270 broad.mit.edu 37 16 30997780 30997780 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr16:30997780G>A ENST00000262520.6 + 4 649 c.359G>A c.(358-360)gGa>gAa p.G120E HSD3B7_ENST00000297679.5_Missense_Mutation_p.G120E|HSD3B7_ENST00000353250.5_Missense_Mutation_p.G120E NM_001142777.1 NP_001136249.1 Q9H2F3 3BHS7_HUMAN hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 120 bile acid biosynthetic process endoplasmic reticulum membrane|integral to membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 GTGCAGACCGGAACACGGTTC 0.577000 28 43 0 0 1 0 0 POM121L12 285877 broad.mit.edu 37 7 53103836 53103836 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:53103836G>A ENST00000408890.4 + 1 488 c.472G>A c.(472-474)Gcc>Acc p.A158T NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 158 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 TGGACAGAGAgcccgccccgc 0.726000 22 20 0 0 1 0 0 SYNRG 11276 broad.mit.edu 37 17 35902229 35902229 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr17:35902229G>A ENST00000339208.6 - 15 3187 c.3047C>T c.(3046-3048)aCc>aTc p.T1016I SYNRG_ENST00000591288.1_Missense_Mutation_p.T810I|SYNRG_ENST00000345615.4_Missense_Mutation_p.T938I|SYNRG_ENST00000502449.2_Missense_Mutation_p.T893I|SYNRG_ENST00000585472.1_Missense_Mutation_p.T937I|SYNRG_ENST00000394378.2_Missense_Mutation_p.T938I|SYNRG_ENST00000346661.4_Missense_Mutation_p.T1016I NM_001163544.1|NM_001163545.1|NM_007247.4 NP_001157016.1|NP_001157017.1|NP_009178.3 Q9UMZ2 SYNRG_HUMAN synergin, gamma 1016 endocytosis|intracellular protein transport AP-1 adaptor complex calcium ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 TTCGTTCGGGGTTTCTTGAGA 0.473000 34 59 0 0 1 0 0 ZNF804A 91752 broad.mit.edu 37 2 185802568 185802568 + Silent SNP A A G TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:185802568A>G ENST00000302277.6 + 4 3039 c.2445A>G c.(2443-2445)aaA>aaG p.K815K NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 815 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 GGAGGCGAAAAAGAGGCAGAT 0.388000 32 28 0 0 1 0 0 NCKAP5 344148 broad.mit.edu 37 2 133486462 133486462 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:133486462C>T ENST00000409261.1 - 18 5880 c.5507G>A c.(5506-5508)gGa>gAa p.G1836E NCKAP5_ENST00000317721.6_Missense_Mutation_p.G1836E|NCKAP5_ENST00000405974.3_Missense_Mutation_p.G517E|NCKAP5_ENST00000409213.1_Missense_Mutation_p.G517E NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 1836 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 TTCAGCATATCCGAATGATGA 0.542000 94 155 0 0 1 0 0 C6orf25 80739 broad.mit.edu 37 6 31692761 31692761 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:31692761G>A ENST00000375809.3 + 6 666 c.655G>A c.(655-657)Gga>Aga p.G219R C6orf25_ENST00000375805.2_Silent_p.A188A|C6orf25_ENST00000375810.4_3'UTR NM_025260.3|NM_138272.2|NM_138277.2 NP_079536.2|NP_612116.1|NP_612121.1 O95866 G6B_HUMAN chromosome 6 open reading frame 25 0 endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane heparin binding|receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3) 9 TGCTCTATGCGGATCTGGACC 0.557000 13 64 0 0 1 0 0 TNFAIP8L3 388121 broad.mit.edu 37 15 51350462 51350462 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr15:51350462G>A ENST00000327536.5 - 3 594 c.495C>T c.(493-495)atC>atT p.I165I RP11-108K3.1_ENST00000559909.1_lincRNA NM_207381.2 NP_997264.2 Q5GJ75 TP8L3_HUMAN tumor necrosis factor, alpha-induced protein 8-like 3 165 endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 11 all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338) AGTCTTTCATGATCTTGTGGG 0.463000 30 102 0 0 1 0 0 OVCH2 341277 broad.mit.edu 37 11 7725292 7725292 + RNA SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:7725292G>A ENST00000454689.1 - 0 242 OVCH2_ENST00000534193.1_RNA NM_198185.3 NP_937828.3 ovochymase 2 (gene/pseudogene) cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2) 15 Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197) GTGGTGAGACGATGCTTCCTC 0.473000 8 5 0 0 1 0 0 TRBV7-4 28594 broad.mit.edu 37 7 142176575 142176575 + RNA SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:142176575C>T ENST00000390369.2 - 0 100 ATCCCGTCCCCTCTTTGCGAC 0.478000 21 38 0 0 1 0 0 NPR2 4882 broad.mit.edu 37 9 35800784 35800784 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr9:35800784C>T ENST00000342694.2 + 6 1552 c.1297C>T c.(1297-1299)Ccc>Tcc p.P433S NM_003995.3 NP_003986.2 P20594 ANPRB_HUMAN natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) 433 intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure integral to membrane|plasma membrane GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 45 all_epithelial(49;0.161) LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194) Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899) GGGGGCTCCTCCCTCGGACAA 0.577000 24 10 0 0 1 0 0 RAD51AP2 729475 broad.mit.edu 37 2 17699064 17699064 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:17699064C>T ENST00000399080.2 - 1 642 c.619G>A c.(619-621)Gaa>Aaa p.E207K NM_001099218.2 NP_001092688.1 Q09MP3 R51A2_HUMAN RAD51 associated protein 2 207 endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) TTCTTAATTTCATGAAATGGT 0.299000 4 24 0 0 1 0 0 SIGLECL1 284369 broad.mit.edu 37 19 51771825 51771825 + Splice_Site SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:51771825G>A ENST00000316401.7 + 6 949 c.567_splice c.e6-1 p.E190_splice SIGLECL1_ENST00000597824.1_Splice_Site_p.E96_splice|SIGLECL1_ENST00000593968.1_3'UTR|CTD-3187F8.2_ENST00000597569.1_RNA NM_173635.1 NP_775906.1 SIGLEC family like 1 TCGCTTTCAGGAAAAGCAAGA 0.428000 17 11 0 0 1 0 0 LRRC3B 116135 broad.mit.edu 37 3 26751332 26751332 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:26751332G>A ENST00000396641.2 + 2 761 c.169G>A c.(169-171)Gaa>Aaa p.E57K LRRC3B_ENST00000417744.1_Missense_Mutation_p.E57K|LRRC3B_ENST00000456208.2_Missense_Mutation_p.E57K NM_052953.2 NP_443185.1 Q96PB8 LRC3B_HUMAN leucine rich repeat containing 3B 57 LRRNT. integral to membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4) 21 AAATCTCAAGGAAATACCTAG 0.413000 15 37 0 0 1 0 0 IL1F10 84639 broad.mit.edu 37 2 113832286 113832286 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:113832286C>T ENST00000337569.3 + 3 180 c.105C>T c.(103-105)ctC>ctT p.L35L IL1F10_ENST00000393197.2_Intron|IL1F10_ENST00000341010.2_Intron Q8WWZ1 IL1FA_HUMAN interleukin 1 family, member 10 (theta) 35 extracellular space cytokine activity|interleukin-1 receptor antagonist activity endometrium(1)|lung(6)|ovary(1) 8 ACTCTTCTCTCTCTTCCCTCC 0.592000 35 157 0 0 1 0 0 MUSK 4593 broad.mit.edu 37 9 113449398 113449398 + Splice_Site SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr9:113449398C>T ENST00000416899.2 + 3 334 c.206_splice c.e3-1 p.L70_splice MUSK_ENST00000189978.5_Splice_Site_p.L70_splice|MUSK_ENST00000374440.3_5'UTR|MUSK_ENST00000374448.4_Splice_Site_p.L70_splice O15146 MUSK_HUMAN muscle, skeletal, receptor tyrosine kinase 70 Ig-like 1. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 49 GACCTGCAGACTCTTTGACAC 0.453000 27 27 0 0 1 0 0 NSUN6 221078 broad.mit.edu 37 10 18874971 18874971 + Nonsense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr10:18874971G>A ENST00000377304.4 - 8 1247 c.829C>T c.(829-831)Cag>Tag p.Q277* NM_182543.2 NP_872349.1 Q8TEA1 NSUN6_HUMAN NOP2/Sun domain family, member 6 277 methyltransferase activity|RNA binding endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 15 AAGGCATTCTGTTTGATTTTT 0.348000 31 11 0 0 1 0 0 DOCK2 1794 broad.mit.edu 37 5 169494645 169494645 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:169494645G>A ENST00000256935.8 + 45 4679 c.4599G>A c.(4597-4599)ggG>ggA p.G1533G DOCK2_ENST00000520908.1_Silent_p.G1025G|DOCK2_ENST00000540750.1_Silent_p.G594G|DOCK2_ENST00000523351.1_3'UTR NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1533 DHR-2. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TCCTGAACGGGATTGTGGACC 0.532000 35 43 0 0 1 0 0 ZP4 57829 broad.mit.edu 37 1 238045787 238045787 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:238045787C>T ENST00000366570.4 - 12 1716 c.1558G>A c.(1558-1560)Gcc>Acc p.A520T RP11-193H5.1_ENST00000450451.1_RNA NM_021186.3 NP_067009.1 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 520 acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) ACTAACAAGGCTCCAAGGATT 0.468000 89 46 0 0 1 0 0 LRRC32 2615 broad.mit.edu 37 11 76370873 76370873 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:76370873G>A ENST00000407242.2 - 3 2006 c.1764C>T c.(1762-1764)ggC>ggT p.G588G LRRC32_ENST00000404995.1_Silent_p.G588G|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000260061.5_Silent_p.G588G NM_005512.2 NP_005503.1 Q14392 LRC32_HUMAN leucine rich repeat containing 32 588 LRRCT. integral to plasma membrane endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1) 31 CGTCCACACGGCCCTGGTGCA 0.677000 15 62 0 0 1 0 0 TNS1 7145 broad.mit.edu 37 2 218682615 218682615 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:218682615G>A ENST00000171887.4 - 24 4580 c.4128C>T c.(4126-4128)gcC>gcT p.A1376A TNS1_ENST00000430930.1_Silent_p.A1355A|TNS1_ENST00000419504.1_Silent_p.A1363A NM_022648.4 NP_072174.3 Q9HBL0 TENS1_HUMAN tensin 1 1376 cytoplasm|cytoskeleton|focal adhesion actin binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) CTTGCCGGAAGGCTGCGGAGT 0.647000 9 26 0 0 1 0 0 SPAG17 200162 broad.mit.edu 37 1 118526499 118526499 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:118526499G>A ENST00000336338.5 - 42 5872 c.5807C>T c.(5806-5808)tCt>tTt p.S1936F SPAG17_ENST00000492438.1_5'UTR NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1936 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) CTTTGTAAAAGAAGGCAGTTT 0.308000 18 11 0 0 1 0 0 KRT18 3875 broad.mit.edu 37 12 53345398 53345398 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:53345398G>A ENST00000550600.1 + 5 845 c.791G>A c.(790-792)cGa>cAa p.R264Q KRT18_ENST00000388835.3_Missense_Mutation_p.R264Q|KRT18_ENST00000388837.2_Missense_Mutation_p.R264Q P05783 K1C18_HUMAN keratin 18 264 Coil 2.|Interaction with DNAJB6.|Necessary for interaction with PNN.|Rod. anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis centriolar satellite|keratin filament|perinuclear region of cytoplasm protein binding|structural molecule activity central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1) 11 CGGAAGAACCGAGAGGAGCTA 0.602000 20 15 0 0 1 0 0 HCLS1 3059 broad.mit.edu 37 3 121351032 121351032 + Splice_Site SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:121351032C>T ENST00000314583.3 - 13 1332 c.e13-1 HCLS1_ENST00000428394.2_Splice_Site|HCLS1_ENST00000473883.1_Splice_Site NM_005335.4 NP_005326.2 P14317 HCLS1_HUMAN hematopoietic cell-specific Lyn substrate 1 erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus mitochondrion|nucleus|plasma membrane DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 GBM - Glioblastoma multiforme(114;0.0912) CCTGATGATCCTGCATAATGA 0.512000 18 35 0 0 1 0 0 LRRC4C 57689 broad.mit.edu 37 11 40137125 40137125 + Nonsense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:40137125G>A ENST00000278198.2 - 2 2681 c.718C>T c.(718-720)Cag>Tag p.Q240* LRRC4C_ENST00000530763.1_Nonsense_Mutation_p.Q240*|LRRC4C_ENST00000528697.1_Nonsense_Mutation_p.Q240*|LRRC4C_ENST00000527150.1_Nonsense_Mutation_p.Q240* Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 240 regulation of axonogenesis integral to membrane protein binding NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) ATCAAACCCTGGAAAGAGCCA 0.458000 34 45 0 0 1 0 0 FUT9 10690 broad.mit.edu 37 6 96651213 96651213 + Missense_Mutation SNP T T G TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:96651213T>G ENST00000302103.5 + 3 508 c.182T>G c.(181-183)tTt>tGt p.F61C NM_006581.3 NP_006572.2 Q9Y231 FUT9_HUMAN fucosyltransferase 9 (alpha (1,3) fucosyltransferase) 61 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356) BRCA - Breast invasive adenocarcinoma(108;0.08) ACTGATTATTTTAATGAAACT 0.418000 48 44 0 0 1 0 0 CRISP3 10321 broad.mit.edu 37 6 49701475 49701475 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:49701475C>T ENST00000433368.2 - 5 502 c.433G>A c.(433-435)Gat>Aat p.D145N CRISP3_ENST00000263045.4_Missense_Mutation_p.D135N|CRISP3_ENST00000423399.2_Missense_Mutation_p.D32N|CRISP3_ENST00000393666.1_Missense_Mutation_p.D122N|CRISP3_ENST00000371159.4_Missense_Mutation_p.D153N NM_001190986.1 NP_001177915.1 P54108 CRIS3_HUMAN cysteine-rich secretory protein 3 122 innate immune response proteinaceous extracellular matrix|specific granule p.D122Y(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1) 27 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) AAGTCAAAATCATTGTACTCA 0.428000 14 39 0 0 1 0 0 CPM 1368 broad.mit.edu 37 12 69265695 69265695 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:69265695G>A ENST00000551568.1 - 4 360 c.300C>T c.(298-300)ctC>ctT p.L100L CPM_ENST00000338356.3_Silent_p.L100L|CPM_ENST00000546373.1_Silent_p.L100L NM_001005502.2|NM_198320.3 NP_001005502.1|NP_938079.1 P14384 CBPM_HUMAN carboxypeptidase M 100 anatomical structure morphogenesis|proteolysis anchored to membrane|cytoplasm|nucleus|plasma membrane metallocarboxypeptidase activity|zinc ion binding large_intestine(1)|lung(6)|prostate(2) 9 all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06) all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143) CACTGGTTACGAGATAGTCAA 0.443000 27 20 0 0 1 0 0 DBNDD1 79007 broad.mit.edu 37 16 90076441 90076441 + Nonsense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr16:90076441C>T ENST00000304733.3 - 1 88 c.15G>A c.(13-15)tgG>tgA p.W5* DBNDD1_ENST00000002501.6_Intron|DBNDD1_ENST00000568838.1_Intron|DBNDD1_ENST00000392973.3_5'UTR NM_024043.2 NP_076948.2 Q9H9R9 DBND1_HUMAN dysbindin (dystrobrevin binding protein 1) domain containing 1 0 cytoplasm kidney(1)|large_intestine(1)|lung(1) 3 all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0275) AAATATTCTTCCAGGTTTCTC 0.468000 21 42 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179560117 179560117 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:179560117G>A ENST00000589042.1 - 115 31452 c.31228C>T c.(31228-31230)Cca>Tca p.P10410S TTN_ENST00000342992.6_Missense_Mutation_p.P9166S|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P10093S|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 10093 Glu-rich.|Pro-rich. 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) ACTTTGGCTGGAACTTTTCTC 0.343000 29 38 0 0 1 0 0 MME 4311 broad.mit.edu 37 3 154864963 154864963 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:154864963C>T ENST00000460393.1 + 15 1567 c.1447C>T c.(1447-1449)Cct>Tct p.P483S MME_ENST00000462745.1_Missense_Mutation_p.P483S|MME_ENST00000360490.2_Missense_Mutation_p.P483S|MME_ENST00000493237.1_Missense_Mutation_p.P483S|MME_ENST00000492661.1_Missense_Mutation_p.P483S NM_000902.3|NM_007287.2 NP_000893.2|NP_009218.2 P08473 NEP_HUMAN membrane metallo-endopeptidase 483 cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding p.P483A(1) central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) GATCGGCTATCCTGATGACAT 0.328000 14 36 0 0 1 0 0 MAPT 4137 broad.mit.edu 37 17 44067305 44067305 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr17:44067305C>T ENST00000344290.5 + 8 1566 c.1244C>T c.(1243-1245)cCc>cTc p.P415L MAPT_ENST00000574436.1_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000415613.2_Missense_Mutation_p.P415L|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000571987.1_Missense_Mutation_p.P415L|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000262410.5_Missense_Mutation_p.P415L|MAPT_ENST00000570299.1_Intron NM_001123066.3 NP_001116538.2 P10636 TAU_HUMAN microtubule-associated protein tau 415 cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 38 Melanoma(429;0.216) CCCAAACACCCCACTCCTGGT 0.468000 117 208 0 0 1 0 0 SLA 6503 broad.mit.edu 37 8 134072500 134072500 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:134072500G>A ENST00000427060.2 - 1 103 c.26C>T c.(25-27)cCa>cTa p.P9L TG_ENST00000377869.1_Intron|SLA_ENST00000524345.1_Intron|TG_ENST00000542445.1_Intron|SLA_ENST00000395352.3_Intron|SLA_ENST00000518565.1_Intron|TG_ENST00000220616.4_Intron|SLA_ENST00000517648.1_Intron|SLA_ENST00000338087.5_Intron|TG_ENST00000519543.1_Intron NM_006748.3 NP_006739.2 Q13239 SLAP1_HUMAN Src-like-adaptor 0 endosome SH3/SH2 adaptor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1) 17 all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037) BRCA - Breast invasive adenocarcinoma(115;0.000701) CCCTCCAAGTGGAGAATGACC 0.502000 13 9 0 0 1 0 0 CES1 1066 broad.mit.edu 37 16 55862781 55862781 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr16:55862781C>T ENST00000422046.2 - 2 436 c.155G>A c.(154-156)gGa>gAa p.G52E CES1_ENST00000360526.3_Missense_Mutation_p.G53E|CES1_ENST00000361503.4_Missense_Mutation_p.G52E P23141 EST1_HUMAN carboxylesterase 1 52 response to toxin endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity all cancers(182;0.13)|Epithelial(162;0.137) Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691) AAAAGGGATTCCCAGGAAAAT 0.567000 8 72 0 0 1 0 0 PTAFR 5724 broad.mit.edu 37 1 28476822 28476822 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:28476822G>A ENST00000373857.3 - 2 1345 c.711C>T c.(709-711)gtC>gtT p.V237V PTAFR_ENST00000539896.1_Silent_p.V237V|PTAFR_ENST00000305392.3_Silent_p.V237V NM_000952.4|NM_001164722.2|NM_001164723.2 NP_000943.1|NP_001158194.1|NP_001158195.1 P25105 PTAFR_HUMAN platelet-activating factor receptor 237 chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling integral to plasma membrane|nucleus phospholipid binding|platelet activating factor receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1) 15 Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557) UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649) ACACCGCCAAGACCGTGCACA 0.617000 11 47 0 0 1 0 0 TAAR1 134864 broad.mit.edu 37 6 132966667 132966667 + Missense_Mutation SNP A A T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:132966667A>T ENST00000275216.1 - 1 475 c.476T>A c.(475-477)aTc>aAc p.I159N NM_138327.1 NP_612200.1 Q96RJ0 TAAR1_HUMAN trace amine associated receptor 1 159 plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11) 18 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154) Amphetamine(DB00182) CTCCAGAAAGATCATTCCAAA 0.388000 34 32 0 0 1 0 0 CD84 8832 broad.mit.edu 37 1 160535278 160535278 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:160535278C>T ENST00000368054.3 - 2 339 c.304G>A c.(304-306)Gaa>Aaa p.E102K RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000534968.1_Intron|CD84_ENST00000368047.3_5'UTR|CD84_ENST00000311224.4_Missense_Mutation_p.E102K|CD84_ENST00000368051.3_Missense_Mutation_p.E102K|CD84_ENST00000368048.3_Missense_Mutation_p.E102K NM_003874.3 NP_003865.1 Q9UIB8 SLAF5_HUMAN CD84 molecule 102 blood coagulation|defense response|homophilic cell adhesion|leukocyte migration integral to plasma membrane receptor activity p.M101_E102>I*(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1) 24 all_cancers(52;3.62e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) CCTGCGTCTTCCATCCTCAGA 0.458000 150 82 0 0 1 0 0 UGT2A3 79799 broad.mit.edu 37 4 69798452 69798452 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr4:69798452G>A ENST00000251566.4 - 3 920 c.890C>T c.(889-891)tCa>tTa p.S297L UGT2A3_ENST00000420231.2_Missense_Mutation_p.S8L NM_024743.3 NP_079019.3 Q6UWM9 UD2A3_HUMAN UDP glucuronosyltransferase 2 family, polypeptide A3 297 integral to membrane glucuronosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 ATCTTCCCCTGAACTCTGGAC 0.353000 21 108 0 0 1 0 0 ATG2A 23130 broad.mit.edu 37 11 64673916 64673916 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:64673916C>T ENST00000421419.2 - 21 3187 c.3073G>A c.(3073-3075)Gag>Aag p.E1025K ATG2A_ENST00000377264.3_Missense_Mutation_p.E1025K Q2TAZ0 ATG2A_HUMAN autophagy related 2A 1025 protein binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 55 ACCCCTTCCTCCGATGGGTAG 0.692000 23 41 0 0 1 0 0 ADAM7 8756 broad.mit.edu 37 8 24324458 24324458 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:24324458C>T ENST00000175238.6 + 6 619 c.536C>T c.(535-537)aCt>aTt p.T179I RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.T179I|ADAM7_ENST00000441335.2_Missense_Mutation_p.T179I NM_003817.3 NP_003808.2 Q9H2U9 ADAM7_HUMAN ADAM metallopeptidase domain 7 179 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15) 64 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) ACCAGAAAAACTGTTCCAGGG 0.348000 40 59 0 0 1 0 0 TUBGCP3 10426 broad.mit.edu 37 13 113200061 113200061 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr13:113200061G>A ENST00000261965.3 - 11 1473 c.1287C>T c.(1285-1287)ttC>ttT p.F429F TUBGCP3_ENST00000375669.3_Silent_p.F429F|TUBGCP3_ENST00000462580.1_5'UTR NM_006322.4 NP_006313.1 Q96CW5 GCP3_HUMAN tubulin, gamma complex associated protein 3 429 G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization centriole|cytosol|polar microtubule gamma-tubulin binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1) 25 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) AGCGGTACAGGAAGCTCAAAA 0.522000 60 127 0 0 1 0 0 KIF3A 11127 broad.mit.edu 37 5 132051943 132051943 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:132051943G>A ENST00000378746.4 - 7 1166 c.948C>T c.(946-948)acC>acT p.T316T KIF3A_ENST00000378735.1_Silent_p.T316T|KIF3A_ENST00000403231.1_Silent_p.T316T|AC004237.1_ENST00000431165.1_RNA NM_007054.5 NP_008985.3 Q9Y496 KIF3A_HUMAN kinesin family member 3A 316 Kinesin-motor. blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule centrosome|cytosol|kinesin II complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|protein binding endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 25 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TTACCATCATGGTTTTTGAAT 0.328000 8 23 0 0 1 0 0 ZSCAN5A 79149 broad.mit.edu 37 19 56733418 56733418 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:56733418C>T ENST00000587340.1 - 7 1712 c.1017G>A c.(1015-1017)gcG>gcA p.A339A ZSCAN5A_ENST00000254165.3_Silent_p.A222A|ZSCAN5A_ENST00000592355.1_Silent_p.A338A|ZSCAN5A_ENST00000587492.1_Silent_p.A193A|ZSCAN5A_ENST00000391713.1_Silent_p.A339A Q9BUG6 ZSA5A_HUMAN zinc finger and SCAN domain containing 5A 339 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.A339A(1) autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 TGACTGGGCTCGCAGGGCCTG 0.552000 14 31 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10430366 10430366 + Silent SNP A A G TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr17:10430366A>G ENST00000245503.5 - 29 4263 c.3879T>C c.(3877-3879)ttT>ttC p.F1293F CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Silent_p.F1293F|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1293 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 GCTGGCGTGAAAACTCACCTG 0.383000 22 12 0 0 1 0 0 ARFGEF2 10564 broad.mit.edu 37 20 47601351 47601351 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr20:47601351C>T ENST00000371917.4 + 15 2044 c.2044C>T c.(2044-2046)Ctg>Ttg p.L682L NM_006420.2 NP_006411.2 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) 682 SEC7. exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 63 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) AGCCCAATTCCTGCACCAGGA 0.527000 69 116 0 0 1 0 0 PID1 55022 broad.mit.edu 37 2 229890441 229890441 + Silent SNP C C T rs140609082 TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:229890441C>T ENST00000392054.3 - 4 993 c.654G>A c.(652-654)agG>agA p.R218R PID1_ENST00000482518.2_Intron|PID1_ENST00000409462.1_Silent_p.R138R|PID1_ENST00000392055.3_Silent_p.R187R|PID1_ENST00000354069.6_Silent_p.R220R NM_017933.4 NP_060403.3 Q7Z2X4 PCLI1_HUMAN phosphotyrosine interaction domain containing 1 220 PID. cytoplasm breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 26 Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171) Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189) GGAAAGTCTTCCTGAAGGCCT 0.552000 44 65 0 0 1 0 0 MIA3 375056 broad.mit.edu 37 1 222794551 222794551 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:222794551C>T ENST00000344922.5 + 2 209 c.184C>T c.(184-186)Cgt>Tgt p.R62C MIA3_ENST00000344441.6_Missense_Mutation_p.R62C|MIA3_ENST00000344507.1_Missense_Mutation_p.R62C|MIA3_ENST00000470521.1_3'UTR NM_198551.2 NP_940953.2 Q5JRA6 MIA3_HUMAN melanoma inhibitory activity family, member 3 62 SH3. exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing endoplasmic reticulum membrane|integral to membrane protein binding breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1) 80 GBM - Glioblastoma multiforme(131;0.0199) CCCGGATTGTCGTTTTGTGAA 0.388000 9 42 0 0 1 0 0 RNF112 7732 broad.mit.edu 37 17 19318512 19318512 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr17:19318512G>A ENST00000461366.1 + 11 1503 c.1288G>A c.(1288-1290)Gaa>Aaa p.E430K NM_007148.4 NP_009079.2 Q7Z5V9 Q7Z5V9_HUMAN ring finger protein 112 430 GTP binding|GTPase activity|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1) 12 GCTAGCTCAGGAAATCAAGGT 0.657000 28 14 0 0 1 0 0 SNX19 399979 broad.mit.edu 37 11 130784873 130784873 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:130784873C>T ENST00000265909.4 - 1 1531 c.962G>A c.(961-963)gGt>gAt p.G321D SNX19_ENST00000539184.1_Intron|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000528555.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000533214.1_Missense_Mutation_p.G321D NM_014758.2 NP_055573.2 Q92543 SNX19_HUMAN sorting nexin 19 321 cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding|protein binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1) 35 all_hematologic(175;0.0597) Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233) GCCTGCAGAACCCTCTGGCTC 0.517000 36 52 0 0 1 0 0 ATP6AP2 10159 broad.mit.edu 37 X 40456825 40456825 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chrX:40456825C>T ENST00000378438.4 + 5 601 c.443C>T c.(442-444)tCa>tTa p.S148L ATP6AP2_ENST00000535777.1_Intron|ATP6AP2_ENST00000544975.1_Missense_Mutation_p.S72L|ATP6AP2_ENST00000535539.1_Missense_Mutation_p.S116L|ATP6AP2_ENST00000486558.1_3'UTR NM_005765.2 NP_005756.2 O75787 RENR_HUMAN ATPase, H+ transporting, lysosomal accessory protein 2 148 angiotensin maturation|positive regulation of transforming growth factor-beta1 production|regulation of MAPKKK cascade external side of plasma membrane|integral to membrane protein binding|receptor activity endometrium(1)|large_intestine(1)|lung(2) 4 GAAGACCTTTCAGTCACCTTG 0.408000 41 18 0 0 1 0 0 MYO5B 4645 broad.mit.edu 37 18 47480803 47480803 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr18:47480803G>A ENST00000285039.7 - 13 1847 c.1548C>T c.(1546-1548)gtC>gtT p.V516V NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 516 Myosin head-like. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) TTCCTTTGGGGACCTGCAGAA 0.572000 23 41 0 0 1 0 0 HECW1 23072 broad.mit.edu 37 7 43351512 43351512 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:43351512G>A ENST00000395891.1 + 4 783 c.178G>A c.(178-180)Ggc>Agc p.G60S HECW1_ENST00000453890.1_Missense_Mutation_p.G60S NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 60 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 CCCCCACGATGGCGTCACCAT 0.632000 30 49 0 0 1 0 0 STAP2 55620 broad.mit.edu 37 19 4328767 4328767 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:4328767G>A ENST00000600324.1 - 6 562 c.495C>T c.(493-495)ctC>ctT p.L165L STAP2_ENST00000594605.1_Silent_p.L165L NM_017720.2 NP_060190.2 Q9UGK3 STAP2_HUMAN signal transducing adaptor family member 2 165 SH2. cytoplasm|nucleus protein binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10) 23 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18) AGCGCTCCAGGAGCAGTTGTG 0.701000 6 6 0 0 1 0 0 P2RY2 5029 broad.mit.edu 37 11 72945775 72945775 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:72945775C>T ENST00000311131.2 + 3 1038 c.571C>T c.(571-573)Ctc>Ttc p.L191F P2RY2_ENST00000393597.2_Missense_Mutation_p.L191F|P2RY2_ENST00000393596.2_Missense_Mutation_p.L191F NM_002564.2|NM_176072.1 NP_002555.2|NP_788086.1 P41231 P2RY2_HUMAN purinergic receptor P2Y, G-protein coupled, 2 191 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2) 25 Suramin(DB04786) GGCACCCGAGCTCTTCAGCCG 0.662000 17 22 0 0 1 0 0 RDX 5962 broad.mit.edu 37 11 110104137 110104137 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:110104137G>A ENST00000343115.4 - 13 1731 c.1412C>T c.(1411-1413)cCt>cTt p.P471L RDX_ENST00000544551.1_Missense_Mutation_p.P335L|RDX_ENST00000530301.1_Intron|RDX_ENST00000528498.1_Missense_Mutation_p.P471L|RDX_ENST00000528900.1_Missense_Mutation_p.P124L|RDX_ENST00000405097.1_Missense_Mutation_p.P471L NM_001260494.1|NM_002906.3 NP_001247423.1|NP_002897.1 P35241 RADI_HUMAN radixin 471 Glu-rich.|Poly-Pro. actin filament capping cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane actin binding endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1) 18 all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248) TGGAGGTGGAGGGGGGGCAGA 0.428000 45 88 0 0 1 0 0 SLITRK1 114798 broad.mit.edu 37 13 84454540 84454540 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr13:84454540G>A ENST00000377084.2 - 1 1988 c.1103C>T c.(1102-1104)gCt>gTt p.A368V NM_052910.1 NP_443142.1 Q96PX8 SLIK1_HUMAN SLIT and NTRK-like family, member 1 368 LRRNT 2. integral to membrane NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) CTTCAAATCAGCCAAGCTGCT 0.502000 34 64 0 0 1 0 0 AKR1CL1 340811 broad.mit.edu 37 10 5203863 5203863 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr10:5203863C>T ENST00000334314.3 - 3 410 c.334G>A c.(334-336)Gac>Aac p.D112N aldo-keto reductase family 1, member C-like 1 cervix(1)|endometrium(1)|large_intestine(2)|lung(2) 6 TCTACATAGTCCGGTCCAAGT 0.418000 11 13 0 0 1 0 0 GLI2 2736 broad.mit.edu 37 2 121743920 121743920 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:121743920C>T ENST00000452319.1 + 13 2083 c.2023C>T c.(2023-2025)Ccc>Tcc p.P675S GLI2_ENST00000314490.11_Missense_Mutation_p.P347S|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Missense_Mutation_p.P675S P10070 GLI2_HUMAN GLI family zinc finger 2 675 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) GGGCAGTGCCCCCAACAATGA 0.687000 27 42 0 0 1 0 0 TMPRSS15 5651 broad.mit.edu 37 21 19653490 19653490 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr21:19653490C>T ENST00000284885.3 - 22 2568 c.2535G>A c.(2533-2535)atG>atA p.M845I NM_002772.2 NP_002763.2 P98073 ENTK_HUMAN transmembrane protease, serine 15 845 Peptidase S1. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 85 GATTTGATTTCATATGCAGGC 0.408000 50 76 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36898776 36898776 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:36898776C>T ENST00000301807.6 - 12 2552 c.655G>A c.(655-657)Gat>Aat p.D219N TRANK1_ENST00000428977.2_Missense_Mutation_p.D219N|TRANK1_ENST00000429976.2_Missense_Mutation_p.D769N NM_014831.2 NP_055646.2 O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 769 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 TCATCCTGATCATCATTGCCC 0.562000 138 172 0 0 1 0 0 HTRA2 27429 broad.mit.edu 37 2 74757402 74757402 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:74757402C>T ENST00000258080.3 + 1 899 c.269C>T c.(268-270)aCc>aTc p.T90I HTRA2_ENST00000352222.3_Missense_Mutation_p.T90I|HTRA2_ENST00000467961.1_Intron NM_013247.4 NP_037379.1 O43464 HTRA2_HUMAN HtrA serine peptidase 2 90 apoptosis|proteolysis|response to stress CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus serine-type endopeptidase activity|unfolded protein binding endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 12 ACCCCAGATACCAGGACCCGG 0.687000 7 12 0 0 1 0 0 SCN5A 6331 broad.mit.edu 37 3 38629035 38629035 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:38629035C>T ENST00000413689.1 - 15 2485 c.2292G>A c.(2290-2292)atG>atA p.M764I SCN5A_ENST00000425664.1_Missense_Mutation_p.M764I|SCN5A_ENST00000443581.1_Missense_Mutation_p.M764I|SCN5A_ENST00000414099.2_Missense_Mutation_p.M764I|SCN5A_ENST00000450102.2_Missense_Mutation_p.M764I|SCN5A_ENST00000455624.2_Missense_Mutation_p.M764I|SCN5A_ENST00000449557.2_Missense_Mutation_p.M764I|SCN5A_ENST00000423572.2_Missense_Mutation_p.M764I|SCN5A_ENST00000451551.2_Missense_Mutation_p.M764I|SCN5A_ENST00000333535.4_Missense_Mutation_p.M764I NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 764 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) TCTTGAAGGTCATCTCTGCTG 0.542000 14 37 0 0 1 0 0 XKR4 114786 broad.mit.edu 37 8 56436024 56436024 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:56436024C>T ENST00000327381.5 + 3 1291 c.1191C>T c.(1189-1191)ttC>ttT p.F397F NM_052898.1 NP_443130.1 Q5GH76 XKR4_HUMAN XK, Kell blood group complex subunit-related family, member 4 397 integral to membrane NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 34 Epithelial(17;0.000117)|all cancers(17;0.000836) CCTCGGTTTTCCAGCTGTACT 0.512000 60 91 0 0 1 0 0 P2RY2 5029 broad.mit.edu 37 11 72945979 72945979 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:72945979C>T ENST00000311131.2 + 3 1242 c.775C>T c.(775-777)Ctg>Ttg p.L259L P2RY2_ENST00000393597.2_Silent_p.L259L|P2RY2_ENST00000393596.2_Silent_p.L259L NM_002564.2|NM_176072.1 NP_002555.2|NP_788086.1 P41231 P2RY2_HUMAN purinergic receptor P2Y, G-protein coupled, 2 259 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2) 25 Suramin(DB04786) CCTCTGCTTCCTGCCATTCCA 0.642000 32 77 0 0 1 0 0 TRIM55 84675 broad.mit.edu 37 8 67047234 67047234 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:67047234G>A ENST00000315962.4 + 3 724 c.351G>A c.(349-351)aaG>aaA p.K117K TRIM55_ENST00000353317.5_Silent_p.K117K|TRIM55_ENST00000350034.4_Silent_p.K117K|TRIM55_ENST00000276573.7_Silent_p.K117K NM_184085.1 NP_908973.1 Q9BYV6 TRI55_HUMAN tripartite motif containing 55 117 cytoplasm|microtubule|nucleus signal transducer activity|zinc ion binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 39 Lung NSC(129;0.138)|all_lung(136;0.221) Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) GGCCAGAAAAGAAATCCGACC 0.517000 20 36 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179438775 179438775 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:179438775C>T ENST00000589042.1 - 326 72308 c.72084G>A c.(72082-72084)aaG>aaA p.K24028K TTN_ENST00000342992.6_Silent_p.K21460K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.K22387K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.K14963K|TTN_ENST00000342175.6_Silent_p.K15155K|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.K15088K|TTN-AS1_ENST00000456053.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 22387 Fibronectin type-III 74. 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) CCACCTTTATCTTTGGTGCCT 0.463000 14 44 0 0 1 0 0 SLC5A10 125206 broad.mit.edu 37 17 18923082 18923082 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr17:18923082G>A ENST00000317977.6 + 13 1948 c.1377G>A c.(1375-1377)ctG>ctA p.L459L SLC5A10_ENST00000395642.1_Silent_p.L459L|SLC5A10_ENST00000395647.2_Silent_p.L505L|SLC5A10_ENST00000395643.2_Silent_p.L462L|SLC5A10_ENST00000395645.3_Silent_p.L489L|SLC5A10_ENST00000417251.2_Silent_p.L453L A0PJK1 SC5AA_HUMAN solute carrier family 5 (sodium/sugar cotransporter), member 10 489 sodium ion transport|transmembrane transport integral to membrane transporter activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3) 24 GGCTGGTCCTGGAATTCCTGA 0.682000 17 3 0 0 1 0 0 ZNF490 57474 broad.mit.edu 37 19 12692189 12692189 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:12692189G>A ENST00000311437.6 - 5 822 c.700C>T c.(700-702)Ctc>Ttc p.L234F NM_020714.2 NP_065765.1 Q9ULM2 ZN490_HUMAN zinc finger protein 490 234 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 18 AAGGAAAAGAGAAATGCGAAG 0.433000 8 30 0 0 1 0 0 ZNF414 84330 broad.mit.edu 37 19 8576706 8576706 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:8576706G>A ENST00000393927.4 - 5 782 c.669C>T c.(667-669)ccC>ccT p.P223P ZNF414_ENST00000255616.8_Silent_p.P223P NM_001146175.1 NP_001139647.1 Q96IQ9 ZN414_HUMAN zinc finger protein 414 223 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding lung(2) 2 CAACCTCCGGGGGGCGCTCCG 0.746000 5 3 0 0 1 0 0 GPR116 221395 broad.mit.edu 37 6 46826916 46826916 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:46826916G>A ENST00000283296.7 - 17 3012 c.2724C>T c.(2722-2724)atC>atT p.I908I GPR116_ENST00000265417.7_Silent_p.I908I|GPR116_ENST00000362015.4_Silent_p.I908I|GPR116_ENST00000456426.2_Silent_p.I766I|GPR116_ENST00000545669.1_Silent_p.I337I NM_001098518.1 NP_001091988.1 Q8IZF2 GP116_HUMAN G protein-coupled receptor 116 908 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 Lung(136;0.192) CCTGGGCAAGGATGGCTTGGA 0.448000 34 57 0 0 1 0 0 DLC1 10395 broad.mit.edu 37 8 12957987 12957987 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:12957987G>A ENST00000276297.4 - 9 2268 c.1859C>T c.(1858-1860)tCc>tTc p.S620F DLC1_ENST00000358919.2_Missense_Mutation_p.S183F|DLC1_ENST00000520226.1_Missense_Mutation_p.S109F|DLC1_ENST00000512044.2_Missense_Mutation_p.S217F NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 620 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 GCTGATGACGGAGTTAGTCCG 0.642000 26 102 0 0 1 0 0 NLRP14 338323 broad.mit.edu 37 11 7083593 7083593 + Missense_Mutation SNP G G A rs139902169 TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:7083593G>A ENST00000299481.4 + 10 3180 c.2834G>A c.(2833-2835)tGt>tAt p.C945Y NM_176822.3 NP_789792.1 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 945 cell differentiation|multicellular organismal development|spermatogenesis ATP binding breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 21 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) ACTAATGCATGTTGTCTGGAT 0.398000 29 54 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26219498 26219498 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr22:26219498G>A ENST00000335473.7 + 13 2798 c.2548G>A c.(2548-2550)Gag>Aag p.E850K MYO18B_ENST00000407587.2_Missense_Mutation_p.E850K|MYO18B_ENST00000536101.1_Missense_Mutation_p.E850K NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 850 Myosin head-like. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 CATGAGGTTTGAGTGGGCAAA 0.572000 41 64 0 0 1 0 0 SRPR 6734 broad.mit.edu 37 11 126134947 126134947 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:126134947G>A ENST00000332118.6 - 11 1586 c.1432C>T c.(1432-1434)Cca>Tca p.P478S SRPR_ENST00000532259.1_Missense_Mutation_p.P450S NM_003139.3 NP_003130.2 P08240 SRPR_HUMAN signal recognition particle receptor (docking protein) 478 SRP-dependent cotranslational protein targeting to membrane integral to membrane|signal recognition particle receptor complex GTP binding|GTPase activity|receptor activity|signal recognition particle binding endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1) 21 all_hematologic(175;0.145) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736) TGCTTCTCTGGAGGGTGTAGG 0.552000 12 24 0 0 1 0 0 FAF1 11124 broad.mit.edu 37 1 51121201 51121201 + Splice_Site SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:51121201C>T ENST00000396153.2 - 8 1109 c.e8-1 FAF1_ENST00000371778.4_Splice_Site NM_007051.2 NP_008982.1 Q9UNN5 FAF1_HUMAN Fas (TNFRSF6) associated factor 1 apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity p.0?(1) breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1) 24 GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526) TTCTCTTTACCTATGAAAAGA 0.378000 6 41 0 0 1 0 0 TMEM178A 130733 broad.mit.edu 37 2 39893167 39893167 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:39893167C>T ENST00000281961.2 + 1 109 c.53C>T c.(52-54)tCc>tTc p.S18F TMEM178A_ENST00000482239.1_Intron NM_152390.2 NP_689603.2 transmembrane protein 178A AGCCTGTGCTCCCTGGGGCTG 0.766000 7 6 0 0 1 0 0 NRF1 4899 broad.mit.edu 37 7 129349024 129349024 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:129349024C>T ENST00000393232.1 + 6 833 c.716C>T c.(715-717)cCc>cTc p.P239L NRF1_ENST00000393231.3_Missense_Mutation_p.P239L|NRF1_ENST00000223190.4_Missense_Mutation_p.P239L|NRF1_ENST00000539636.1_Missense_Mutation_p.P78L|NRF1_ENST00000311967.2_Missense_Mutation_p.P239L|NRF1_ENST00000353868.4_Missense_Mutation_p.P239L|NRF1_ENST00000393230.2_Missense_Mutation_p.P239L NM_005011.3 NP_005002.3 Q16656 NRF1_HUMAN nuclear respiratory factor 1 239 generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1) 24 GAAGATATCCCCTGGGCAAAT 0.517000 67 109 0 0 1 0 0 MANSC1 54682 broad.mit.edu 37 12 12483131 12483131 + Nonsense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:12483131G>A ENST00000535902.1 - 4 1689 c.1126C>T c.(1126-1128)Cag>Tag p.Q376* MANSC1_ENST00000396349.3_Nonsense_Mutation_p.Q342*|MANSC1_ENST00000545735.1_Nonsense_Mutation_p.Q295* Q9H8J5 MANS1_HUMAN MANSC domain containing 1 376 integral to membrane breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4) 23 Prostate(47;0.0865) BRCA - Breast invasive adenocarcinoma(232;0.185) AGGCCGTACTGATTTTCTGGA 0.507000 15 40 0 0 1 0 0 RAI2 10742 broad.mit.edu 37 X 17819456 17819456 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chrX:17819456G>A ENST00000545871.1 - 3 1135 c.675C>T c.(673-675)gtC>gtT p.V225V RAI2_ENST00000415486.3_Silent_p.V175V|RAI2_ENST00000360011.1_Silent_p.V225V|RAI2_ENST00000331511.1_Silent_p.V225V|RAI2_ENST00000451717.1_Silent_p.V225V NM_001172739.1|NM_001172743.1 NP_001166210.1|NP_001166214.1 Q9Y5P3 RAI2_HUMAN retinoic acid induced 2 225 Pro-rich. embryo development breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1) 22 Hepatocellular(33;0.183) TGGCTGGTGGGACCAGGGGGG 0.632000 31 5 0 0 1 0 0 SH3RF2 153769 broad.mit.edu 37 5 145317863 145317863 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:145317863G>A ENST00000511217.1 + 1 424 c.372G>A c.(370-372)atG>atA p.M124I SH3RF2_ENST00000359120.4_Missense_Mutation_p.M124I Q8TEC5 SH3R2_HUMAN SH3 domain containing ring finger 2 124 ligase activity|protein phosphatase 1 binding|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1) 22 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GAATCCACATGGATGGGGTAA 0.463000 12 36 0 0 1 0 0 NOTCH2 4853 broad.mit.edu 37 1 120465314 120465314 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:120465314G>A ENST00000256646.2 - 27 5166 c.4947C>T c.(4945-4947)ctC>ctT p.L1649L NOTCH2_ENST00000493703.1_5'UTR NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 1649 Negative regulatory region (NRR). anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) GAGAGGCCAGGAGAGCTGCTG 0.547000 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 31 159 0 0 1 0 0 PEMT 10400 broad.mit.edu 37 17 17409590 17409590 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr17:17409590G>A ENST00000395781.2 - 7 716 c.635C>T c.(634-636)cCt>cTt p.P212L PEMT_ENST00000435340.2_Missense_Mutation_p.P191L|PEMT_ENST00000395782.1_Silent_p.L165L|PEMT_ENST00000484838.2_5'UTR|PEMT_ENST00000255389.5_Silent_p.L202L|PEMT_ENST00000395783.1_Silent_p.L165L NM_001267552.1 NP_001254481.1 Q9UBM1 PEMT_HUMAN phosphatidylethanolamine N-methyltransferase 0 cell proliferation|phosphatidylcholine biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane phosphatidylethanolamine N-methyltransferase activity endometrium(1)|kidney(1)|large_intestine(2)|prostate(3) 7 Colorectal(2;0.0157)|READ - Rectum adenocarcinoma(2;0.0891) AGCACCGTCAGGAGCAGGCCC 0.692000 8 1 0 0 1 0 0 GRM2 2912 broad.mit.edu 37 3 51743007 51743007 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:51743007C>T ENST00000395052.3 + 2 242 c.8C>T c.(7-9)tCg>tTg p.S3L GRM2_ENST00000475478.1_Intron|GRM2_ENST00000442933.2_Missense_Mutation_p.S3L NM_000839.3 NP_000830.2 Q14416 GRM2_HUMAN glutamate receptor, metabotropic 2 3 synaptic transmission integral to plasma membrane p.S3L(1) breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Acamprosate(DB00659)|Nicotine(DB00184) GCCATGGGATCGCTGCTTGCG 0.632000 13 15 0 0 1 0 0 INCA1 388324 broad.mit.edu 37 17 4893552 4893552 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr17:4893552C>T ENST00000396829.2 - 5 619 c.53G>A c.(52-54)aGg>aAg p.R18K INCA1_ENST00000355025.3_Missense_Mutation_p.R18K|INCA1_ENST00000574617.1_Missense_Mutation_p.R18K|INCA1_ENST00000576820.1_Missense_Mutation_p.R18K|INCA1_ENST00000575780.1_Missense_Mutation_p.R18K NM_001167986.1 NP_001161458.1 Q0VD86 INCA1_HUMAN inhibitor of CDK, cyclin A1 interacting protein 1 18 nucleus upper_aerodigestive_tract(1) 1 GCTGACCACCCTGGAACACCT 0.557000 25 10 0 0 1 0 0 FAM212B 55924 broad.mit.edu 37 1 112269701 112269701 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:112269701G>A ENST00000357260.5 - 2 964 c.783C>T c.(781-783)ccC>ccT p.P261P FAM212B_ENST00000444059.2_Silent_p.P246P|FAM212B_ENST00000534365.1_Intron NM_019099.4 NP_061972.1 Q9NTI7 CA183_HUMAN family with sequence similarity 212, member B 261 cervix(1)|endometrium(1) 2 TGCCTGGGAAGGGGAAATGTC 0.612000 30 190 0 0 1 0 0 C4orf32 132720 broad.mit.edu 37 4 113108007 113108007 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr4:113108007C>T ENST00000309733.4 + 2 496 c.312C>T c.(310-312)ttC>ttT p.F104F NM_152400.2 NP_689613.1 Q8N8J7 CD032_HUMAN chromosome 4 open reading frame 32 104 integral to membrane Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.00198) TAGTCATTTTCTTTTGGGTTA 0.403000 97 61 0 0 1 0 0 ZNF638 27332 broad.mit.edu 37 2 71576784 71576784 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:71576784C>T ENST00000409544.1 + 2 1330 c.700C>T c.(700-702)Cca>Tca p.P234S ZNF638_ENST00000264447.4_Missense_Mutation_p.P234S|ZNF638_ENST00000377802.2_Missense_Mutation_p.P234S|ZNF638_ENST00000355812.3_Missense_Mutation_p.P234S|ZNF638_ENST00000410075.1_3'UTR NM_001252612.1 NP_001239541.1 Q14966 ZN638_HUMAN zinc finger protein 638 234 RNA splicing cytoplasm|nuclear speck double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 63 TCCTGAAATTCCAACTGATGA 0.378000 34 54 0 0 1 0 0 SEZ6L2 26470 broad.mit.edu 37 16 29907160 29907160 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr16:29907160G>A ENST00000308713.5 - 4 1060 c.533C>T c.(532-534)tCc>tTc p.S178F SEZ6L2_ENST00000350527.3_Missense_Mutation_p.S108F|SEZ6L2_ENST00000346932.5_Intron|SEZ6L2_ENST00000562159.1_Intron|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.S134F NM_001114099.2|NM_201575.3 NP_001107571.1|NP_963869.2 Q6UXD5 SE6L2_HUMAN seizure related 6 homolog (mouse)-like 2 178 CUB 1. endoplasmic reticulum membrane|integral to membrane|plasma membrane breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TTCGCCCTCGGAGATGTTGTT 0.562000 34 61 0 0 1 0 0 LGR6 59352 broad.mit.edu 37 1 202287272 202287272 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:202287272C>T ENST00000367278.3 + 18 1930 c.1841C>T c.(1840-1842)tCc>tTc p.S614F LGR6_ENST00000439764.2_Missense_Mutation_p.S475F|LGR6_ENST00000255432.7_Missense_Mutation_p.S562F NM_001017403.1 NP_001017403.1 Q9HBX8 LGR6_HUMAN leucine-rich repeat containing G protein-coupled receptor 6 614 integral to membrane|plasma membrane protein-hormone receptor activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 36 ACTGGCATTTCCTGTGGCCTT 0.637000 35 12 0 0 1 0 0 CAPN5 726 broad.mit.edu 37 11 76796028 76796028 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:76796028C>T ENST00000278559.3 + 2 285 c.96C>T c.(94-96)ttC>ttT p.F32F CAPN5_ENST00000531028.1_Silent_p.F32F|CAPN5_ENST00000456580.2_Silent_p.F32F|CAPN5_ENST00000529629.1_Silent_p.F32F NM_004055.4 NP_004046.2 O15484 CAN5_HUMAN calpain 5 32 Calpain catalytic. proteolysis|signal transduction intracellular calcium-dependent cysteine-type endopeptidase activity NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1) 30 ACCCCCTCTTCCCCGCCACTG 0.637000 11 19 0 0 1 0 0 SLIT1 6585 broad.mit.edu 37 10 98778824 98778824 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr10:98778824G>A ENST00000266058.4 - 27 3032 c.2787C>T c.(2785-2787)tgC>tgT p.C929C ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Silent_p.C929C NM_003061.2 NP_003052.2 O75093 SLIT1_HUMAN slit homolog 1 (Drosophila) 929 EGF-like 1. axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space calcium ion binding|Roundabout binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 78 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) GACTGGACAAGCAGAGATCAC 0.647000 23 11 0 0 1 0 0 NID2 22795 broad.mit.edu 37 14 52493942 52493942 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr14:52493942G>A ENST00000216286.5 - 12 2650 c.2651C>T c.(2650-2652)gCc>gTc p.A884V NID2_ENST00000541773.1_Intron NM_007361.3 NP_031387.3 Q14112 NID2_HUMAN nidogen 2 (osteonidogen) 884 EGF-like 4. basement membrane calcium ion binding|collagen binding NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 87 Breast(41;0.0639)|all_epithelial(31;0.123) CCCATCGCCGGCATAACCAGG 0.587000 9 1 0 0 1 0 0 F8 2157 broad.mit.edu 37 X 154189432 154189432 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chrX:154189432C>T ENST00000360256.4 - 10 1655 c.1455G>A c.(1453-1455)aaG>aaA p.K485K NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 485 F5/8 type A 2.|Plastocyanin-like 3. 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) TTGCTTGATTCTTAAATATAA 0.358000 9 1 0 0 1 0 0 FAM213A 84293 broad.mit.edu 37 10 82182205 82182205 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr10:82182205G>A ENST00000372181.1 + 2 681 c.211G>A c.(211-213)Gaa>Aaa p.E71K FAM213A_ENST00000372185.1_Missense_Mutation_p.E60K|FAM213A_ENST00000372187.5_Missense_Mutation_p.E71K|FAM213A_ENST00000372188.1_Missense_Mutation_p.E71K NM_001243778.1|NM_001243782.1 NP_001230707.1|NP_001230711.1 Q9BRX8 CJ058_HUMAN family with sequence similarity 213, member A 71 extracellular region GGAGCTATGGGAAAAAAATGG 0.483000 15 31 0 0 1 0 0 WDR38 401551 broad.mit.edu 37 9 127619824 127619824 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr9:127619824G>A ENST00000373574.1 + 9 916 c.860G>A c.(859-861)gGg>gAg p.G287E NM_001045476.1|NM_001276374.1 NP_001038941.1|NP_001263303.1 Q5JTN6 WDR38_HUMAN WD repeat domain 38 287 breast(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1) 8 ACCCCAGATGGGAAAATCTTA 0.552000 23 11 0 0 1 0 0 GRXCR1 389207 broad.mit.edu 37 4 42895324 42895324 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr4:42895324G>A ENST00000399770.2 + 1 41 c.41G>A c.(40-42)cGg>cAg p.R14Q NM_001080476.2 NP_001073945.1 A8MXD5 GRCR1_HUMAN glutaredoxin, cysteine rich 1 14 cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development kinocilium|stereocilium electron carrier activity|protein disulfide oxidoreductase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1) 32 GACAGGCCACGGAAAGTCCGG 0.512000 23 77 0 0 1 0 0 IL1B 3553 broad.mit.edu 37 2 113588124 113588124 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:113588124C>T ENST00000263341.2 - 7 834 c.624G>A c.(622-624)aaG>aaA p.K208K IL1B_ENST00000491056.1_5'UTR NM_000576.2 NP_000567.1 P01584 IL1B_HUMAN interleukin 1, beta 208 activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation cytosol|extracellular space cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8) 12 Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366) CCATCTTCTTCTTTGGGTAAT 0.418000 45 64 0 0 1 0 0 IL1R2 7850 broad.mit.edu 37 2 102626066 102626066 + Missense_Mutation SNP G G C TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:102626066G>C ENST00000332549.3 + 3 339 c.110G>C c.(109-111)cGg>cCg p.R37P IL1R2_ENST00000393414.2_Missense_Mutation_p.R37P|IL1R2_ENST00000441002.1_Missense_Mutation_p.R37P NM_004633.3 NP_004624.1 P27930 IL1R2_HUMAN interleukin 1 receptor, type II 37 Ig-like C2-type 1. immune response integral to membrane|plasma membrane interleukin-1, Type II, blocking receptor activity p.R37L(1) breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1) 28 Anakinra(DB00026) CATTACAAGCGGGAGTTCAGG 0.592000 77 137 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 104078786 104078786 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:104078786C>T ENST00000388887.2 + 27 3125 c.2921C>T c.(2920-2922)tCg>tTg p.S974L NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 974 EGF-like 10. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 CAATCTACTTCGTCTGGTGTC 0.453000 42 39 0 0 1 0 0 CDX4 1046 broad.mit.edu 37 X 72667275 72667275 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chrX:72667275G>A ENST00000373514.2 + 1 186 c.186G>A c.(184-186)atG>atA p.M62I NM_005193.1 NP_005184.1 O14627 CDX4_HUMAN caudal type homeobox 4 62 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1) 18 Renal(35;0.156) TGCCCAGCATGGATCCTCACT 0.622000 19 3 0 0 1 0 0 TNNI3 7137 broad.mit.edu 37 19 55668486 55668486 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:55668486G>A ENST00000344887.5 - 3 182 c.40C>T c.(40-42)Cct>Tct p.P14S CTD-2587H24.4_ENST00000587871.1_3'UTR|TNNI3_ENST00000590463.1_5'UTR NM_000363.4 NP_000354.4 P19429 TNNI3_HUMAN troponin I type 3 (cardiac) 14 cardiac muscle contraction|cellular calcium ion homeostasis|muscle filament sliding|negative regulation of ATPase activity|regulation of systemic arterial blood pressure by ischemic conditions|vasculogenesis|ventricular cardiac muscle tissue morphogenesis cytosol|troponin complex actin binding|calcium channel inhibitor activity|calcium-dependent protein binding|protein domain specific binding|protein kinase binding|troponin C binding|troponin T binding endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1) 12 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0452) GCTGGTGCAGGGCGAGGTTCC 0.667000 4 5 0 0 1 0 0 PRR23C 389152 broad.mit.edu 37 3 138762806 138762806 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:138762806G>A ENST00000413199.1 - 1 928 c.657C>T c.(655-657)ttC>ttT p.F219F MRPS22_ENST00000495075.1_Intron|PRR23C_ENST00000502927.2_Silent_p.F219F NM_001134657.1 NP_001128129.1 Q6ZRP0 PR23C_HUMAN proline rich 23C 219 Pro-rich. breast(2)|lung(7)|skin(2) 11 CCAGAAGATGGAATTCCAGGT 0.672000 8 15 0 0 1 0 0 GPR50 9248 broad.mit.edu 37 X 150348412 150348412 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chrX:150348412C>T ENST00000218316.3 + 2 426 c.357C>T c.(355-357)atC>atT p.I119I NM_004224.3 NP_004215.2 Q13585 MTR1L_HUMAN G protein-coupled receptor 50 119 cell-cell signaling integral to plasma membrane melatonin receptor activity breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 38 Acute lymphoblastic leukemia(192;6.56e-05) TCTTCAACATCGTGGCAATCG 0.542000 69 13 0 0 1 0 0 BCR 613 broad.mit.edu 37 22 23603672 23603672 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr22:23603672C>T ENST00000305877.8 + 4 2448 c.1697C>T c.(1696-1698)cCc>cTc p.P566L BCR_ENST00000359540.3_Missense_Mutation_p.P566L NM_004327.3 NP_004318.3 P11274 BCR_HUMAN breakpoint cluster region 566 DH. regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity BCR/JAK2(6) central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 35 GGGCTCTTCCCCCGCGTGCAG 0.602000 T """ABL1, FGFR1, JAK2 """ """CML, ALL, AML""" 41 58 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100349367 100349367 + RNA SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:100349367C>T ENST00000542585.1 + 0 1787 ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_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) TCCCGTATCTCCAGTTTCTTC 0.453000 28 32 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55540643 55540643 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:55540643C>T ENST00000220676.1 + 4 4349 c.4201C>T c.(4201-4203)Ctt>Ttt p.L1401F NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1401 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) CTCCTGTGGCCTTTGCCTAAG 0.318000 23 25 0 0 1 0 0 CYP4Z2P 163720 broad.mit.edu 37 1 47333651 47333651 + RNA SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:47333651C>T ENST00000505841.1 - 0 1037 NR_002788.2 CTAGGAGTTCCCTGATTTCAT 0.428000 5 30 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32020739 32020739 + Silent SNP T T C TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:32020739T>C ENST00000375244.3 - 26 9024 c.8823A>G c.(8821-8823)gaA>gaG p.E2941E TNXB_ENST00000375247.2_Silent_p.E2939E P22105 TENX_HUMAN tenascin XB 2986 Fibronectin type-III 21. 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 CCGTGCTGGGTTCTGTGGGGG 0.642000 22 44 0 0 1 0 0 DCAF4L2 138009 broad.mit.edu 37 8 88886007 88886007 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:88886007C>T ENST00000319675.3 - 1 289 c.193G>A c.(193-195)Gat>Aat p.D65N NM_152418.3 NP_689631.1 Q8NA75 DC4L2_HUMAN DDB1 and CUL4 associated factor 4-like 2 65 breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 GAGGAGGGATCCCAGCTATGA 0.517000 40 67 0 0 1 0 0 OR1L1 26737 broad.mit.edu 37 9 125424618 125424618 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr9:125424618G>A ENST00000373686.1 + 1 774 c.774G>A c.(772-774)atG>atA p.M258I Q8NH94 OR1L1_HUMAN olfactory receptor, family 1, subfamily L, member 1 258 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1) 17 CTGTCATAATGACCCCGTTTT 0.403000 54 29 0 0 1 0 0 DNASE1L3 1776 broad.mit.edu 37 3 58186744 58186744 + Missense_Mutation SNP T T C TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr3:58186744T>C ENST00000483681.1 - 7 1107 c.526A>G c.(526-528)Aaa>Gaa p.K176E DNASE1L3_ENST00000486455.1_Missense_Mutation_p.K146E|DNASE1L3_ENST00000318316.3_Missense_Mutation_p.K176E|DNASE1L3_ENST00000394549.2_Missense_Mutation_p.K176E Q13609 DNSL3_HUMAN deoxyribonuclease I-like 3 176 apoptosis|DNA catabolic process nucleus calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters breast(2)|large_intestine(4)|lung(6) 12 BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202) CAGCGGTGTTTCACGTCCGTG 0.552000 10 198 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1272003 1272003 + Silent SNP A A C TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:1272003A>C ENST00000447027.1 + 31 13960 c.13902A>C c.(13900-13902)acA>acC p.T4634T MUC5B_ENST00000529681.1_Silent_p.T4631T Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 4631 23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) ccacacccacaaccagtggct 0.652000 36 62 0 0 1 0 0 F11 2160 broad.mit.edu 37 4 187197491 187197491 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr4:187197491C>T ENST00000264692.4 + 7 879 c.546C>T c.(544-546)ccC>ccT p.P182P F11_ENST00000403665.2_Silent_p.P234P P03951 FA11_HUMAN coagulation factor XI 234 Apple 2. blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis extracellular space|plasma membrane heparin binding|serine-type endopeptidase activity NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 32 all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176) Coagulation Factor IX(DB00100) CTCATCATCCCGGTTGCTTGT 0.423000 14 58 0 0 1 0 0 DNAI1 27019 broad.mit.edu 37 9 34490385 34490385 + Missense_Mutation SNP G G A rs141157671 TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr9:34490385G>A ENST00000242317.4 + 7 691 c.520G>A c.(520-522)Gaa>Aaa p.E174K DNAI1_ENST00000488369.1_3'UTR NM_012144.2 NP_036276.1 Q9UI46 DNAI1_HUMAN dynein, axonemal, intermediate chain 1 174 cell projection organization cilium axoneme|cytoplasm|dynein complex|microtubule motor activity autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1) 34 all_epithelial(49;0.244) LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212) GBM - Glioblastoma multiforme(74;0.0222) AAAAGTGACTGAAGAAGAATT 0.498000 Kartagener syndrome 93 30 0 0 1 0 0 DCC 1630 broad.mit.edu 37 18 50918051 50918051 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr18:50918051C>T ENST00000442544.2 + 17 3098 c.2482C>T c.(2482-2484)Cct>Tct p.P828S DCC_ENST00000581580.1_Intron|DCC_ENST00000412726.1_Intron NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 828 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) TGATTATTATCCTTTGCTTGA 0.428000 13 82 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57569798 57569798 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:57569798C>T ENST00000243077.3 + 24 4366 c.3900C>T c.(3898-3900)atC>atT p.I1300I NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 1300 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) GCAACACCATCGCCCTGGACT 0.597000 OREG0021937 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 23 76 0 0 1 0 0 CYP1A2 1544 broad.mit.edu 37 15 75044515 75044515 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr15:75044515C>T ENST00000343932.4 + 5 1156 c.1093C>T c.(1093-1095)Ctg>Ttg p.L365L NM_000761.3 NP_000752.2 P05177 CP1A2_HUMAN cytochrome P450, family 1, subfamily A, polypeptide 2 365 alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 33 Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315) CAGACCCCAGCTGCCCTACTT 0.632000 39 115 0 0 1 0 0 MRGPRX2 117194 broad.mit.edu 37 11 19077101 19077101 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:19077101G>A ENST00000329773.2 - 2 936 c.849C>T c.(847-849)ggC>ggT p.G283G NM_054030.2 NP_473371.1 Q96LB1 MRGX2_HUMAN MAS-related GPR, member X2 283 sensory perception of pain|sleep plasma membrane G-protein coupled receptor activity|neuropeptide binding NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 15 TCCTAAAAGAGCCCACGAAGA 0.498000 39 60 0 0 1 0 0 PTBP2 58155 broad.mit.edu 37 1 97250671 97250671 + Silent SNP C C T rs142842336 byFrequency TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:97250671C>T ENST00000236228.6 + 8 847 c.765C>T c.(763-765)tcC>tcT p.S255S PTBP2_ENST00000394184.3_Silent_p.S266S|PTBP2_ENST00000370198.1_Silent_p.S255S|PTBP2_ENST00000370197.1_Silent_p.S255S|PTBP2_ENST00000426398.2_Silent_p.S255S|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000541987.1_Silent_p.S224S NM_021190.2 NP_067013.1 Q9UKA9 PTBP2_HUMAN polypyrimidine tract binding protein 2 255 RRM 2. nucleotide binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1) 26 all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171) all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202) TTGATTTTTCCAAACTTGTGA 0.363000 40 14 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216498891 216498891 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:216498891G>A ENST00000366943.2 - 6 1285 c.899C>T c.(898-900)tCa>tTa p.S300L USH2A_ENST00000366942.3_Missense_Mutation_p.S300L|USH2A_ENST00000307340.3_Missense_Mutation_p.S300L O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 300 Laminin N-terminal. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) ACGGCAATGTGATTGGGCATG 0.502000 HNSCC(13;0.011) 52 25 0 0 1 0 0 RIF1 55183 broad.mit.edu 37 2 152320961 152320961 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:152320961C>T ENST00000243326.4 + 29 5410 c.4927C>T c.(4927-4929)Cct>Tct p.P1643S RIF1_ENST00000444746.2_Missense_Mutation_p.P1643S|RIF1_ENST00000428287.2_Missense_Mutation_p.P1643S|RIF1_ENST00000453091.2_Missense_Mutation_p.P1643S|RIF1_ENST00000430328.2_Missense_Mutation_p.P1643S Q5UIP0 RIF1_HUMAN RAP1 interacting factor homolog (yeast) 1643 cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 97 BRCA - Breast invasive adenocarcinoma(221;0.0429) GTTGCAAGTTCCTGATGATTT 0.338000 8 20 0 0 1 0 0 ANO5 203859 broad.mit.edu 37 11 22225352 22225352 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:22225352G>A ENST00000324559.8 + 2 360 c.43G>A c.(43-45)Gaa>Aaa p.E15K NM_001142649.1|NM_213599.2 NP_001136121.1|NP_998764.1 Q75V66 ANO5_HUMAN anoctamin 5 15 chloride channel complex|endoplasmic reticulum membrane chloride channel activity breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 TAATTTAGGGGAAAAAGTCAA 0.269000 3 10 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33330826 33330826 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr20:33330826G>A ENST00000374796.2 - 12 5804 c.3234C>T c.(3232-3234)gtC>gtT p.V1078V NCOA6_ENST00000359003.2_Silent_p.V1078V Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 1078 NCOA1-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 GACTGACCATGACAGGCACAC 0.527000 20 134 0 0 1 0 0 MYO9A 4649 broad.mit.edu 37 15 72172100 72172100 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr15:72172100G>A ENST00000356056.5 - 30 6173 c.5701C>T c.(5701-5703)Cgg>Tgg p.R1901W MYO9A_ENST00000444904.1_Missense_Mutation_p.R1882W|MYO9A_ENST00000424560.1_Missense_Mutation_p.R1972W|MYO9A_ENST00000564571.1_Missense_Mutation_p.R1901W NM_006901.3 NP_008832.2 B2RTY4 MYO9A_HUMAN myosin IXA 1901 Tail. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 ATATTCTGCCGAAATTCCTTC 0.378000 27 24 0 0 1 0 0 TSIX 9383 broad.mit.edu 37 X 73043728 73043728 + RNA SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chrX:73043728C>T ENST00000604411.1 + 0 31689 XIST_ENST00000429829.1_lincRNA NR_003255.2 ATTTTTATATCCTAGGGCATG 0.358000 12 3 0 0 1 0 0 HEPH 9843 broad.mit.edu 37 X 65423252 65423252 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chrX:65423252G>A ENST00000519389.1 + 13 2465 c.2286G>A c.(2284-2286)ggG>ggA p.G762G HEPH_ENST00000441993.2_Silent_p.G711G|HEPH_ENST00000336279.5_Silent_p.G441G|HEPH_ENST00000374727.3_Silent_p.G711G|HEPH_ENST00000343002.2_Silent_p.G708G|HEPH_ENST00000419594.1_Silent_p.G519G Q9BQS7 HEPH_HUMAN hephaestin 708 Plastocyanin-like 5. 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 GAGAAGCAGGGATGAGGGCAA 0.512000 20 11 0 0 1 0 0 OR3A4P 390756 broad.mit.edu 37 17 3214132 3214132 + RNA SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr17:3214132G>A ENST00000573491.1 - 0 359 OR3A4P_ENST00000323164.4_RNA GCCCCAATGTGATCAATCACT 0.517000 69 35 0 0 1 0 0 MMP25 64386 broad.mit.edu 37 16 3100083 3100083 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr16:3100083C>T ENST00000336577.4 + 3 543 c.306C>T c.(304-306)gtC>gtT p.V102V MMP25_ENST00000570755.1_3'UTR NM_022468.4 NP_071913.1 Q9NPA2 MMP25_HUMAN matrix metallopeptidase 25 102 inflammatory response|proteolysis anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1) 14 CGGGGCTGGTCAGGCGGCGTC 0.706000 56 93 0 0 1 0 0 THBS1 7057 broad.mit.edu 37 15 39885304 39885304 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr15:39885304C>T ENST00000260356.5 + 18 3036 c.2871C>T c.(2869-2871)ttC>ttT p.F957F NM_003246.2 NP_003237.2 P07996 TSP1_HUMAN thrombospondin 1 957 activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223) GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105) Becaplermin(DB00102) AGACCGATTTCCGCCGATTCC 0.493000 18 27 0 0 1 0 0 TMC1 117531 broad.mit.edu 37 9 75435858 75435858 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr9:75435858C>T ENST00000297784.5 + 20 2404 c.1864C>T c.(1864-1866)Cct>Tct p.P622S TMC1_ENST00000340019.3_Missense_Mutation_p.P622S|TMC1_ENST00000486417.1_3'UTR|TMC1_ENST00000396237.3_Missense_Mutation_p.P622S NM_138691.2 NP_619636.2 Q8TDI8 TMC1_HUMAN transmembrane channel-like 1 622 sensory perception of sound integral to membrane NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 36 CTGCAATGTTCCTGAGGCCAG 0.502000 40 27 0 0 1 0 0 CHMP7 91782 broad.mit.edu 37 8 23106856 23106856 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:23106856C>T ENST00000397677.1 + 3 1081 c.433C>T c.(433-435)Cca>Tca p.P145S CHMP7_ENST00000313219.7_Missense_Mutation_p.P145S NM_152272.3 NP_689485.1 Q8WUX9 CHMP7_HUMAN charged multivesicular body protein 7 145 cellular membrane organization|late endosome to vacuole transport cytosol|ESCRT III complex protein transporter activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 11 Prostate(55;0.0513) Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632) TAATAAGGTTCCAGCTGAGGA 0.562000 18 33 0 0 1 0 0 KIAA1147 57189 broad.mit.edu 37 7 141385295 141385295 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:141385295G>A ENST00000536163.1 - 3 509 c.510C>T c.(508-510)ttC>ttT p.F170F KIAA1147_ENST00000482493.1_Silent_p.F79F NM_001080392.1 NP_001073861.1 A4D1U4 LCHN_HUMAN KIAA1147 170 breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|ovary(1)|skin(1) 12 Melanoma(164;0.0171) GGTTCTCCAAGAAGTGCATGT 0.587000 60 106 0 0 1 0 0 CDH26 60437 broad.mit.edu 37 20 58570991 58570991 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr20:58570991C>T ENST00000348616.4 + 12 2070 c.1770C>T c.(1768-1770)gtC>gtT p.V590V CDH26_ENST00000497614.1_3'UTR|CDH26_ENST00000244047.5_Silent_p.V590V NM_177980.2 NP_817089.1 Q8IXH8 CAD26_HUMAN cadherin 26 590 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 44 all_lung(29;0.00963) BRCA - Breast invasive adenocarcinoma(7;5.58e-09) AGCAAACTGTCCATGTAAGGA 0.517000 21 36 0 0 1 0 0 ATP1A3 478 broad.mit.edu 37 19 42489289 42489289 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:42489289G>A ENST00000545399.1 - 8 966 c.813C>T c.(811-813)ggC>ggT p.G271G ATP1A3_ENST00000302102.5_Silent_p.G258G|ATP1A3_ENST00000602133.1_Silent_p.G228G|ATP1A3_ENST00000543770.1_Silent_p.G269G NM_001256214.1 NP_001243143.1 P13637 AT1A3_HUMAN ATPase, Na+/K+ transporting, alpha 3 polypeptide 258 ATP biosynthetic process endoplasmic reticulum|Golgi apparatus ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 52 TGGCGATACGGCCCATGACAG 0.667000 15 14 0 0 1 0 0 COL4A3 1285 broad.mit.edu 37 2 228172615 228172615 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:228172615G>A ENST00000396578.3 + 48 4604 c.4442G>A c.(4441-4443)cGa>cAa p.R1481Q AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000439598.2_RNA NM_000091.4 NP_000082.2 Q01955 CO4A3_HUMAN collagen, type IV, alpha 3 (Goodpasture antigen) 1481 Collagen IV NC1.|Required for the anti-angiogenic activity of tumstatin. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) GGAAATCAACGAGCCCACGGA 0.473000 21 31 0 0 1 0 0 ABCB4 5244 broad.mit.edu 37 7 87035667 87035667 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:87035667C>T ENST00000265723.4 - 26 3555 c.3444G>A c.(3442-3444)caG>caA p.Q1148Q ABCB4_ENST00000545634.1_Silent_p.Q1141Q|ABCB4_ENST00000359206.3_Silent_p.Q1141Q|ABCB4_ENST00000453593.1_Silent_p.Q1094Q|ABCB4_ENST00000358400.3_Silent_p.Q1094Q NM_000443.3|NM_018849.2 NP_000434.1|NP_061337.1 P21439 MDR3_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 4 1148 ABC transporter 2. cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) CAATTTCATCCTGTGATACAA 0.463000 37 81 0 0 1 0 0 NAV3 89795 broad.mit.edu 37 12 78516124 78516124 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:78516124C>T ENST00000397909.2 + 16 4327 c.4154C>T c.(4153-4155)tCc>tTc p.S1385F NAV3_ENST00000266692.7_Intron|NAV3_ENST00000228327.6_Missense_Mutation_p.S1385F|NAV3_ENST00000536525.2_Missense_Mutation_p.S1385F Q8IVL0 NAV3_HUMAN neuron navigator 3 1385 Ser-rich. 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 CATCATGGCTCCTTGTCTGGA 0.557000 HNSCC(70;0.22) 52 36 0 0 1 0 0 COL21A1 81578 broad.mit.edu 37 6 55925786 55925786 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:55925786C>T ENST00000244728.5 - 26 2652 c.2255G>A c.(2254-2256)gGa>gAa p.G752E COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000535941.1_Missense_Mutation_p.G752E|COL21A1_ENST00000370808.2_Missense_Mutation_p.G152E|COL21A1_ENST00000370819.1_Missense_Mutation_p.G749E NM_030820.3 NP_110447.2 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 752 Collagen-like 5. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) CCCAGATTCTCCTTTTGATCC 0.507000 24 28 0 0 1 0 0 OXLD1 339229 broad.mit.edu 37 17 79632342 79632342 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr17:79632342G>A ENST00000374741.3 - 2 343 c.333C>T c.(331-333)ttC>ttT p.F111F OXLD1_ENST00000573786.1_5'UTR|OXLD1_ENST00000571503.1_3'UTR NM_001039842.1 NP_001034931.1 oxidoreductase-like domain containing 1 CACCGTCCTGGAAGTGCTGCA 0.652000 23 40 0 0 1 0 0 LRBA 987 broad.mit.edu 37 4 151271224 151271224 + Nonsense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr4:151271224G>A ENST00000535741.1 - 48 7755 c.7282C>T c.(7282-7284)Cga>Tga p.R2428* LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000510413.1_Nonsense_Mutation_p.R2428*|LRBA_ENST00000357115.3_Nonsense_Mutation_p.R2439*|LRBA_ENST00000507224.1_Nonsense_Mutation_p.R2428* P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and anchor containing 2439 BEACH. endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) TTGAGGGCTCGGACAGCTTCT 0.418000 44 17 0 0 1 0 0 CFTR 1080 broad.mit.edu 37 7 117176665 117176665 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:117176665C>T ENST00000003084.6 + 7 939 c.807C>T c.(805-807)atC>atT p.I269I CFTR_ENST00000454343.1_Silent_p.I269I NM_000492.3 NP_000483.3 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 269 ABC transmembrane type-1 1. respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) TTGAAAATATCCAATCTGTTA 0.318000 Cystic Fibrosis 8 8 0 0 1 0 0 LAMA2 3908 broad.mit.edu 37 6 129419560 129419560 + Splice_Site SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:129419560G>A ENST00000421865.2 + 4 688 c.639_splice c.e4+1 p.E213_splice NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 213 Laminin N-terminal. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) AAAATGGAGAGGTAAGATGAG 0.398000 15 40 0 0 1 0 0 OR6K3 391114 broad.mit.edu 37 1 158687228 158687228 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:158687228C>T ENST00000368146.1 - 1 725 c.726G>A c.(724-726)agG>agA p.R242R OR6K3_ENST00000368145.1_Silent_p.R226R Q8NGY3 OR6K3_HUMAN olfactory receptor, family 6, subfamily K, member 3 242 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1) 41 all_hematologic(112;0.0378) AAGAGGGAATCCTCAATATCA 0.443000 50 26 0 0 1 0 0 CDK12 51755 broad.mit.edu 37 17 37650905 37650905 + Missense_Mutation SNP G G T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr17:37650905G>T ENST00000447079.4 + 5 2410 c.2377G>T c.(2377-2379)Gtc>Ttc p.V793F CDK12_ENST00000430627.2_Missense_Mutation_p.V793F NM_015083.1|NM_016507.2 NP_055898.1|NP_057591.2 Q9NYV4 CDK12_HUMAN cyclin-dependent kinase 12 793 Protein kinase. mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3) 70 gaaggaaattgtcacagataa 0.393000 """Mis, N, F""" serous ovarian TCGA Ovarian(9;0.13) 3 9 0.115264 0.115466 1 1 0 ZNF708 7562 broad.mit.edu 37 19 21476108 21476108 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:21476108G>A ENST00000356929.3 - 4 1857 c.1660C>T c.(1660-1662)Cat>Tat p.H554Y NM_021269.2 NP_067092.2 P17019 ZN708_HUMAN zinc finger protein 708 554 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1) 32 TCTTTGGTATGAATTCTCTTA 0.318000 13 35 0 0 1 0 0 CYP2C19 1557 broad.mit.edu 37 10 96541742 96541742 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr10:96541742C>T ENST00000371321.3 + 5 889 c.807C>T c.(805-807)atC>atT p.I269I CYP2C19_ENST00000464755.1_3'UTR NM_000769.1 NP_000760.1 P33261 CP2CJ_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 19 269 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 43 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) GCTTCCTGATCAAAATGGAGA 0.353000 30 23 0 0 1 0 0 OR9A4 130075 broad.mit.edu 37 7 141618715 141618715 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:141618715C>T ENST00000548136.1 + 1 99 c.40C>T c.(40-42)Ctt>Ttt p.L14F MGAM_ENST00000497554.1_Intron NM_001001656.1 NP_001001656.1 Q8NGU2 OR9A4_HUMAN olfactory receptor, family 9, subfamily A, member 4 14 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2) 22 Melanoma(164;0.0171) ATTTTATCTCCTTGGCTTCCC 0.378000 73 121 0 0 1 0 0 PACRG 135138 broad.mit.edu 37 6 163235180 163235180 + Splice_Site SNP T T C TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:163235180T>C ENST00000337019.3 + 3 382 c.156_splice c.e3-1 p.V53_splice PACRG_ENST00000366889.2_Splice_Site_p.V53_splice|PACRG_ENST00000366888.2_Splice_Site_p.V53_splice|PACRG_ENST00000542669.1_3'UTR NM_152410.2 NP_689623.2 Q96M98 PACRG_HUMAN PARK2 co-regulated 53 endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203) OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242) CCAATTAAGGTGAGAGGCCCT 0.363000 27 51 0 0 1 0 0 NLRP10 338322 broad.mit.edu 37 11 7981250 7981250 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:7981250C>T ENST00000328600.2 - 2 2070 c.1909G>A c.(1909-1911)Gaa>Aaa p.E637K NM_176821.3 NP_789791.1 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 637 ATP binding p.E637K(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) GTAGAAGCTTCCTTTTGTGTT 0.393000 9 31 0 0 1 0 0 QSER1 79832 broad.mit.edu 37 11 32953298 32953298 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:32953298C>T ENST00000399302.2 + 4 442 c.107C>T c.(106-108)tCc>tTc p.S36F QSER1_ENST00000527250.1_3'UTR|QSER1_ENST00000527788.1_Missense_Mutation_p.S36F NM_001076786.1 NP_001070254.1 Q2KHR3 QSER1_HUMAN glutamine and serine rich 1 36 breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 48 Breast(20;0.158) GGCATGCATTCCTCAGCAGCA 0.413000 37 46 0 0 1 0 0 MAP3K10 4294 broad.mit.edu 37 19 40720929 40720929 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:40720929C>T ENST00000253055.3 + 10 2883 c.2595C>T c.(2593-2595)ttC>ttT p.F865F NM_002446.3 NP_002437.2 Q02779 M3K10_HUMAN mitogen-activated protein kinase kinase kinase 10 865 activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway cytoplasm ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 24 AGGCCCTGTTCCCAGCCCGCC 0.721000 18 27 0 0 1 0 0 ZNF598 90850 broad.mit.edu 37 16 2049618 2049618 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr16:2049618C>T ENST00000563630.1 - 9 2009 c.1767G>A c.(1765-1767)cgG>cgA p.R589R ZNF598_ENST00000431526.1_Silent_p.R644R|ZNF598_ENST00000562103.1_Silent_p.R589R Q86UK7 ZN598_HUMAN zinc finger protein 598 644 intracellular zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1) 16 TGGGGGCACTCCGAGCAGGGG 0.721000 17 33 0 0 1 0 0 SPOCD1 90853 broad.mit.edu 37 1 32258906 32258906 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:32258906G>A ENST00000360482.2 - 13 2787 c.2658C>T c.(2656-2658)gtC>gtT p.V886V SPOCD1_ENST00000257100.3_Silent_p.V379V|SPOCD1_ENST00000533231.1_Silent_p.V886V|SPOCD1_ENST00000373648.2_3'UTR NM_144569.4 NP_653170.3 Q6ZMY3 SPOC1_HUMAN SPOC domain containing 1 886 SPOC. transcription, DNA-dependent NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 37 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199) STAD - Stomach adenocarcinoma(196;0.18) TGTGTCCCGAGACCAGCTGGG 0.637000 3 12 0 0 1 0 0 KLHL7 55975 broad.mit.edu 37 7 23164805 23164805 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:23164805G>A ENST00000545771.1 + 5 603 c.390G>A c.(388-390)caG>caA p.Q130Q KLHL7_ENST00000322231.7_Intron|KLHL7_ENST00000542558.1_Intron|KLHL7_ENST00000539124.1_Intron|KLHL7_ENST00000545443.1_Intron|KLHL7_ENST00000479288.1_Intron|KLHL7_ENST00000410047.1_Intron|KLHL7_ENST00000322275.5_Intron|KLHL7_ENST00000339077.4_Intron|KLHL7_ENST00000409689.1_Intron Q8IXQ5 KLHL7_HUMAN kelch-like family member 7 150 Golgi apparatus|nucleolus|plasma membrane breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 AGAAATATCAGATTCCTGTTG 0.289000 14 25 0 0 1 0 0 LOC643711 643711 broad.mit.edu 37 12 98126372 98126372 + RNA SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:98126372G>A ENST00000550548.1 - 0 398 NR_077240.1 GGCAATGGTGGTTTGTTTCTC 0.483000 3 5 0 0 1 0 0 SIRT7 51547 broad.mit.edu 37 17 79872342 79872342 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr17:79872342G>A ENST00000328666.6 - 7 706 c.644C>T c.(643-645)gCc>gTc p.A215V NM_016538.2 NP_057622.1 Q9NRC8 SIRT7_HUMAN sirtuin 7 215 Deacetylase sirtuin-type. chromatin silencing|positive regulation of transcription on exit from mitosis|protein deacetylation|rRNA transcription cytoplasm|nucleolus organizer region hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ binding|protein binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) TCTGTGGAGGGCAGTGCGCTC 0.637000 18 57 0 0 1 0 0 C2orf78 388960 broad.mit.edu 37 2 74042651 74042651 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:74042651G>A ENST00000409561.1 + 3 1422 c.1301G>A c.(1300-1302)gGg>gAg p.G434E NM_001080474.1 NP_001073943.1 A6NCI8 CB078_HUMAN chromosome 2 open reading frame 78 434 cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1) 34 TTTGAAAATGGGATTGAGTCT 0.458000 16 26 0 0 1 0 0 C8orf4 56892 broad.mit.edu 37 8 40011367 40011367 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:40011367C>T ENST00000315792.3 + 1 379 c.316C>T c.(316-318)Cac>Tac p.H106Y NM_020130.4 NP_064515.1 Q9NR00 CH004_HUMAN chromosome 8 open reading frame 4 106 apoptosis breast(1)|large_intestine(1)|ovary(1) 3 Ovarian(28;0.0173) all_cancers(7;5.34e-21)|all_epithelial(6;1.04e-14)|Lung NSC(58;9.35e-06)|all_lung(54;1.39e-05)|Hepatocellular(245;0.00745)|Breast(189;0.0334)|Colorectal(162;0.0815)|Myeloproliferative disorder(644;0.116)|Esophageal squamous(32;0.141) LUSC - Lung squamous cell carcinoma(45;0.000149) KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111) CATCAAAGTTCACTGAAGAGA 0.428000 20 33 0 0 1 0 0 TECTA 7007 broad.mit.edu 37 11 121058619 121058619 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr11:121058619C>T ENST00000392793.1 + 21 6349 c.6078C>T c.(6076-6078)gtC>gtT p.V2026V TECTA_ENST00000264037.2_Silent_p.V2026V O75443 TECTA_HUMAN tectorin alpha 2026 ZP. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) ACGTCACCGTCTTTAAATTCA 0.438000 23 71 0 0 1 0 0 SCEL 8796 broad.mit.edu 37 13 78130755 78130755 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr13:78130755C>T ENST00000535157.1 + 3 238 c.68C>T c.(67-69)aCc>aTc p.T23I SCEL_ENST00000377246.3_Missense_Mutation_p.T23I|SCEL_ENST00000349847.3_Missense_Mutation_p.T23I NM_001160706.1 NP_001154178.1 O95171 SCEL_HUMAN sciellin 23 embryo development|keratinocyte differentiation cornified envelope|cytoplasm|membrane protein binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1) 40 Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0233) ACTCAGGGAACCACACGGAAG 0.423000 121 151 0 0 1 0 0 CNGA1 1259 broad.mit.edu 37 4 47942805 47942805 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr4:47942805G>A ENST00000402813.3 - 9 988 c.846C>T c.(844-846)atC>atT p.I282I CNGA1_ENST00000358519.4_Silent_p.I213I|CNGA1_ENST00000420489.2_Silent_p.I213I|CNGA1_ENST00000514170.1_Silent_p.I213I|CNGA1_ENST00000544810.1_Silent_p.I213I P29973 CNGA1_HUMAN cyclic nucleotide gated channel alpha 1 213 response to stimulus|visual perception integral to plasma membrane cGMP binding|ion channel activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1) 28 CAAACATATCGATTAAATAGA 0.284000 11 36 0 0 1 0 0 NDUFV2 4729 broad.mit.edu 37 18 9122581 9122581 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr18:9122581G>A ENST00000400033.1 + 6 497 c.380G>A c.(379-381)cGa>cAa p.R127Q RP11-143J12.2_ENST00000582375.1_RNA|RP11-21J18.1_ENST00000579126.1_RNA|RP11-143J12.2_ENST00000583081.1_RNA|NDUFV2_ENST00000318388.6_Missense_Mutation_p.R124Q|NDUFV2_ENST00000465096.1_3'UTR P19404 NDUV2_HUMAN NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa 124 cardiac muscle tissue development|mitochondrial electron transport, NADH to ubiquinone|nervous system development|transport mitochondrial respiratory chain complex I 2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity breast(1)|lung(4)|ovary(1)|stomach(1) 7 NADH(DB00157) ATGTATAATCGAAAGCCAGTT 0.368000 9 67 0 0 1 0 0 TXLNB 167838 broad.mit.edu 37 6 139576745 139576745 + Nonsense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr6:139576745G>A ENST00000358430.3 - 7 1265 c.1033C>T c.(1033-1035)Cag>Tag p.Q345* NM_153235.3 NP_694967.3 Q8N3L3 TXLNB_HUMAN taxilin beta 345 cytoplasm breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 37 OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235) ACTTTCGCCTGAAGTTTCCAC 0.498000 24 26 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10247326 10247326 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr17:10247326G>A ENST00000418404.3 - 15 1848 c.1685C>T c.(1684-1686)tCc>tTc p.S562F MYH13_ENST00000570743.1_Missense_Mutation_p.S562F|MYH13_ENST00000252172.4_Missense_Mutation_p.S562F Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 562 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 GAAGTTGTTGGATTTTCCAAG 0.547000 47 17 0 0 1 0 0 NDRG1 10397 broad.mit.edu 37 8 134274298 134274298 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:134274298G>A ENST00000414097.2 - 5 1185 c.318C>T c.(316-318)ttC>ttT p.F106F NDRG1_ENST00000518176.1_Intron|NDRG1_ENST00000323851.7_Silent_p.F106F|NDRG1_ENST00000537882.1_Silent_p.F25F|NDRG1_ENST00000518066.1_Intron|NDRG1_ENST00000522476.1_Silent_p.F40F|NDRG1_ENST00000354944.5_Intron NM_001135242.1 NP_001128714.1 Q92597 NDRG1_HUMAN N-myc downstream regulated 1 106 cellular response to hypoxia|response to metal ion cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane protein binding NDRG1/ERG(5) endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1) 17 all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0107) ACCCTGCGGGGAAGGAGGCTG 0.582000 T ERG prostate 38 66 0 0 1 0 0 PCDHB5 26167 broad.mit.edu 37 5 140516693 140516693 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:140516693C>T ENST00000231134.5 + 1 1894 c.1677C>T c.(1675-1677)ttC>ttT p.F559F NM_015669.2 NP_056484.1 Q9Y5E4 PCDB5_HUMAN 559 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 81 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACTCGCCCTTCGTGCTGTATC 0.716000 49 94 0 0 1 0 0 SLC14A2 8170 broad.mit.edu 37 18 43219721 43219721 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr18:43219721C>T ENST00000255226.6 + 7 1670 c.854C>T c.(853-855)gCc>gTc p.A285V SLC14A2_ENST00000586448.1_Missense_Mutation_p.A285V NM_007163.3 NP_009094.3 Q15849 UT2_HUMAN solute carrier family 14 (urea transporter), member 2 285 apical plasma membrane|integral to membrane|membrane fraction protein binding|urea transmembrane transporter activity NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 CTGTTACAAGCCATCCCTGTT 0.537000 60 61 0 0 1 0 0 TRBV7-6 28592 broad.mit.edu 37 7 142139373 142139373 + RNA SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:142139373G>A ENST00000390374.3 - 0 296 TCTCTGCAGAGAACCGATCAT 0.562000 52 72 0 0 1 0 0 SCAF1 58506 broad.mit.edu 37 19 50148305 50148305 + Nonsense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:50148305C>T ENST00000360565.3 + 2 146 c.22C>T c.(22-24)Cga>Tga p.R8* NM_021228.2 NP_067051.2 Q9H7N4 SFR19_HUMAN SR-related CTD-associated factor 1 8 mRNA processing|RNA splicing nucleus RNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 20 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204) AGATGAGTCTCGAGGGAAGAC 0.592000 5 11 0 0 1 0 0 GRPEL2 134266 broad.mit.edu 37 5 148730806 148730806 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:148730806C>T ENST00000329271.3 + 4 749 c.639C>T c.(637-639)gcC>gcT p.A213A GRPEL2_ENST00000507562.1_3'UTR|RP11-394O4.4_ENST00000521295.1_RNA|GRPEL2_ENST00000416916.2_3'UTR NM_152407.3 NP_689620.2 Q8TAA5 GRPE2_HUMAN GrpE-like 2, mitochondrial (E. coli) 213 protein folding mitochondrial matrix adenyl-nucleotide exchange factor activity|chaperone binding|protein homodimerization activity p.L212fs*>8(1) breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTAGGCTTGCCCGAGTGGAAG 0.512000 18 49 0 0 1 0 0 SLC38A4 55089 broad.mit.edu 37 12 47173646 47173646 + Splice_Site SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr12:47173646C>T ENST00000447411.1 - 8 782 c.e8-1 SLC38A4_ENST00000266579.4_Splice_Site NM_001143824.1 NP_001137296.1 Q969I6 S38A4_HUMAN solute carrier family 38, member 4 cellular nitrogen compound metabolic process|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 21 Lung SC(27;0.192)|Renal(347;0.236) GTACCATTCTCTAGAAGTGAG 0.358000 11 21 0 0 1 0 0 NSD1 64324 broad.mit.edu 37 5 176562160 176562160 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr5:176562160C>T ENST00000439151.2 + 2 101 c.56C>T c.(55-57)cCa>cTa p.P19L NSD1_ENST00000347982.4_5'UTR|NSD1_ENST00000354179.4_5'UTR|NSD1_ENST00000361032.4_Missense_Mutation_p.P19L|NSD1_ENST00000511258.1_5'UTR NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 19 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) 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)|Epithelial(233;0.198) Kidney(146;0.235) TTTTCCAATCCAGTGAATTTA 0.458000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 58 59 0 0 1 0 0 GCDH 2639 broad.mit.edu 37 19 13008525 13008525 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr19:13008525C>T ENST00000222214.5 + 11 1302 c.1091C>T c.(1090-1092)cCc>cTc p.P364L GCDH_ENST00000457854.1_Missense_Mutation_p.P364L|GCDH_ENST00000422947.2_Missense_Mutation_p.P320L|GCDH_ENST00000591470.1_Missense_Mutation_p.P364L Q92947 GCDH_HUMAN glutaryl-CoA dehydrogenase 364 lysine catabolic process mitochondrial matrix flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8) 19 AGGGCTGCCCCCGAGATGGTT 0.607000 83 179 0 0 1 0 0 TMED8 283578 broad.mit.edu 37 14 77809810 77809810 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr14:77809810C>T ENST00000216468.7 - 5 526 c.471G>A c.(469-471)atG>atA p.M157I NM_213601.1 NP_998766.1 Q6PL24 TMED8_HUMAN transmembrane emp24 protein transport domain containing 8 157 transport integral to membrane breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4) 15 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0281) ATGGAGGAGCCATCAGAGGTG 0.527000 7 5 0 0 1 0 0 ADAM18 8749 broad.mit.edu 37 8 39581304 39581304 + Nonsense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:39581304G>A ENST00000265707.5 + 19 2100 c.2055G>A c.(2053-2055)tgG>tgA p.W685* ADAM18_ENST00000523755.1_3'UTR|ADAM18_ENST00000541111.1_Nonsense_Mutation_p.W99*|ADAM18_ENST00000379866.1_Nonsense_Mutation_p.W661* NM_014237.2 NP_055052.1 Q9Y3Q7 ADA18_HUMAN ADAM metallopeptidase domain 18 685 cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3) 71 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) ATACACACTGGAACAACTGGT 0.294000 23 38 0 0 1 0 0 DCC 1630 broad.mit.edu 37 18 50866095 50866095 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr18:50866095C>T ENST00000442544.2 + 15 2793 c.2177C>T c.(2176-2178)cCt>cTt p.P726L DCC_ENST00000581580.1_Missense_Mutation_p.P381L|DCC_ENST00000412726.1_Missense_Mutation_p.P574L NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 726 Fibronectin type-III 4. 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) TCTCAAGTTCCTGATCAACCA 0.428000 37 65 0 0 1 0 0 PLOD1 5351 broad.mit.edu 37 1 12018692 12018692 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr1:12018692C>T ENST00000196061.4 + 9 990 c.963C>T c.(961-963)ttC>ttT p.F321F PLOD1_ENST00000376369.3_Silent_p.F368F NM_000302.3 NP_000293.2 Q02809 PLOD1_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 321 epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 29 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126) TGCGACTTTTCATCCACAACC 0.587000 10 46 0 0 1 0 0 GAL3ST2 64090 broad.mit.edu 37 2 242738494 242738496 + In_Frame_Del DEL TCC TCC - TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr2:242738494_242738496delTCC ENST00000192314.6 + 2 175_177 c.44_46delTCC c.(43-48)atc>a p.IL15del NM_022134.2 NP_071417.2 Q9H3Q3 G3ST2_HUMAN galactose-3-O-sulfotransferase 2 15 biosynthetic process Golgi cisterna membrane|integral to membrane galactosylceramide sulfotransferase activity p.L16I(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1) 14 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833) TTCCGGGTCATCCTCCTCCTCCT 0.631 7 102 --- --- --- --- ATP6V0A4 50617 broad.mit.edu 37 7 138453566 138453566 + Frame_Shift_Del DEL T T - TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:138453566delT ENST00000310018.2 - 5 532 c.250delA c.(250-252)gcfs p.S84fs ATP6V0A4_ENST00000393054.1_Frame_Shift_Del_p.S84fs|ATP6V0A4_ENST00000353492.4_Frame_Shift_Del_p.S84fs|ATP6V0A4_ENST00000483139.1_5'UTR NM_020632.2|NM_130840.2 NP_065683.2|NP_570855.2 Q9HBG4 VPP4_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a4 84 cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 GTCAGTGGGCTTTTCTCGAGC 0.488 25 30 --- --- --- --- ZNF777 27153 broad.mit.edu 37 7 149129966 149129968 + In_Frame_Del DEL TCC TCC - TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr7:149129966_149129968delTCC ENST00000247930.4 - 6 1718_1720 c.1395_1397delGGA c.(1393-1398)gat>ga p.ED465del NM_015694.2 NP_056509.2 Q9ULD5 ZN777_HUMAN zinc finger protein 777 465 Glu-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1) 26 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) CGGCAGctcatcctcctcctcct 0.606 5 9 --- --- --- --- CHD7 55636 broad.mit.edu 37 8 61764713 61764713 + Frame_Shift_Del DEL T T - TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr8:61764713delT ENST00000423902.2 + 29 6280 c.5801delT c.(5800-5802)cafs p.L1934fs CHD7_ENST00000524602.1_Intron NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 1934 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) CAAGAGGCCCTAATGAAGACT 0.527 38 57 --- --- --- --- SETX 23064 broad.mit.edu 37 9 135140315 135140320 + In_Frame_Del DEL TAATAA TAATAA - TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr9:135140315_135140320delTAATAA ENST00000372169.2 - 27 7609_7614 c.7427_7432delTTATTA c.(7426-7434)aag>a p.IIK2476del SETX_ENST00000477049.1_5'UTR|SETX_ENST00000224140.5_In_Frame_Del_p.IIK2447del|SETX_ENST00000393220.1_In_Frame_Del_p.IIK2414del Q7Z333 SETX_HUMAN senataxin 2447 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) TCACAGGTCTTAATAATGGCACCACG 0.447 24 21 --- --- --- --- ZNF768 79724 broad.mit.edu 37 16 30537042 30537062 + In_Frame_Del DEL GGGCTCCGGGGTTCATACCCG GGGCTCCGGGGTTCATACCCG - TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr16:30537042_30537062delGGGCTCCGGGGTTCATACCCG ENST00000380412.5 - 2 574_594 c.399_419delCGGGTATGAACCCCGGAGCCC c.(397-420)cct>cc p.PGYEPRSP133del ZNF768_ENST00000562803.1_In_Frame_Del_p.PGYEPRSP102del NM_024671.3 NP_078947.3 Q9H5H4 ZN768_HUMAN zinc finger protein 768 133 Pro-rich. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1) 15 TTCATAGCCAGGGCTCCGGGGTTCATACCCGGGGCTCCGAG 0.511 28 55 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11085863 11085864 + RNA INS - - C TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chr21:11085863_11085864insC 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) catcaccaccaccaccatcacc 0.579 2 4 --- --- --- --- FLNA 2316 broad.mit.edu 37 X 153590823 153590824 + Frame_Shift_Ins INS - - C TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c87561d-7f5c-435e-85b4-e514f68fdbda af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1 g.chrX:153590823_153590824insC ENST00000422373.1 - 17 2775_2776 c.2527_2528insG c.(2527-2529)tggfs p.W843fs FLNA_ENST00000369850.3_Frame_Shift_Ins_p.W843fs|FLNA_ENST00000360319.4_Frame_Shift_Ins_p.W843fs|FLNA_ENST00000344736.4_Frame_Shift_Ins_p.W843fs NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha 843 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 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) GTAGCTGCCAGCCCCCCGGGGC 0.599 76 19 --- --- --- ---