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 QSER1 79832 broad.mit.edu 37 11 32954673 32954673 + Missense_Mutation SNP T T G TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr11:32954673T>G ENST00000399302.2 + 4 1817 c.1482T>G c.(1480-1482)atT>atG p.I494M QSER1_ENST00000527788.1_Missense_Mutation_p.I255M NM_001076786.1 NP_001070254.1 Q2KHR3 QSER1_HUMAN glutamine and serine rich 1 494 Ser-rich. 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) AGAATTATATTTCTATGCATT 0.458000 10 99 0 0 1 0 0 ANO5 203859 broad.mit.edu 37 11 22294457 22294457 + Silent SNP T T G TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr11:22294457T>G ENST00000324559.8 + 19 2474 c.2157T>G c.(2155-2157)acT>acG p.T719T ANO5_ENST00000532043.1_3'UTR NM_001142649.1|NM_213599.2 NP_001136121.1|NP_998764.1 Q75V66 ANO5_HUMAN anoctamin 5 719 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 ACAGGAGAACTGTAGCTTCTA 0.418000 7 139 0 0 1 0 0 GMPS 8833 broad.mit.edu 37 3 155628911 155628911 + Silent SNP C C T TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr3:155628911C>T ENST00000496455.1 + 7 1064 c.729C>T c.(727-729)ctC>ctT p.L243L GMPS_ENST00000295920.7_Silent_p.L144L NM_003875.2 NP_003866.1 P49915 GUAA_HUMAN guanine monphosphate synthase 243 glutamine metabolic process|purine base biosynthetic process cytosol ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) AGGTTTTACTCAGTGGTGGAG 0.338000 T MLL AML 10 87 0 0 1 0 0 LST3 0 broad.mit.edu 37 12 21175843 21175843 + Missense_Mutation SNP C C T TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr12:21175843C>T ENST00000381541.3 + 5 606 c.541C>T c.(541-543)Cgt>Tgt p.R181C SLCO1B7_ENST00000554957.1_Missense_Mutation_p.R181C|SLCO1B3_ENST00000553473.1_Intron|LST3_ENST00000540229.1_Intron|SLCO1B7_ENST00000421593.2_Missense_Mutation_p.R134C TAATATGCTTCGTGGCATAGG 0.368000 14 96 0 0 1 0 0 SPDYE3 441272 broad.mit.edu 37 7 99914762 99914762 + Missense_Mutation SNP C C T TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr7:99914762C>T ENST00000332397.6 + 8 1514 c.1330C>T c.(1330-1332)Cat>Tat p.H444Y SPDYE3_ENST00000437326.2_Missense_Mutation_p.H67Y NM_001004351.4 NP_001004351.3 A6NKU9 SPDE3_HUMAN speedy/RINGO cell cycle regulator family member E3 444 endometrium(10)|kidney(1)|lung(8)|urinary_tract(1) 20 CCAACGCATTCATTTCTTCCT 0.532000 15 250 0 0 1 0 0 CDH24 64403 broad.mit.edu 37 14 23521729 23521729 + Missense_Mutation SNP C C T TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr14:23521729C>T ENST00000397359.3 - 8 1575 c.1316G>A c.(1315-1317)cGc>cAc p.R439H CDH24_ENST00000487137.2_Missense_Mutation_p.R439H|CDH24_ENST00000267383.5_Missense_Mutation_p.R439H|CDH24_ENST00000554034.1_Missense_Mutation_p.R439H NM_022478.3 NP_071923.2 Q86UP0 CAD24_HUMAN cadherin 24, type 2 439 Cadherin 4. adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 26 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.00654) GCGAGCCTCGCGATCCAGGGG 0.642000 12 73 0 0 1 0 0 SMG9 56006 broad.mit.edu 37 19 44254841 44254841 + Missense_Mutation SNP C C A TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr19:44254841C>A ENST00000601170.1 - 2 367 c.53G>T c.(52-54)cGa>cTa p.R18L SMG9_ENST00000270066.6_Missense_Mutation_p.R18L Q9H0W8 SMG9_HUMAN SMG9 nonsense mediated mRNA decay factor 18 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay intracellular protein binding kidney(1)|large_intestine(5)|liver(1)|lung(7)|pancreas(1)|prostate(2)|urinary_tract(2) 19 CTTCCACCGTCGCCGCCGCTC 0.572000 21 222 3.62473e-10 4.10803e-10 1 1 0 KIF21B 23046 broad.mit.edu 37 1 200971387 200971387 + Missense_Mutation SNP C C T TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr1:200971387C>T ENST00000332129.2 - 9 1620 c.1304G>A c.(1303-1305)cGg>cAg p.R435Q KIF21B_ENST00000422435.2_Missense_Mutation_p.R435Q|KIF21B_ENST00000360529.5_Missense_Mutation_p.R435Q|KIF21B_ENST00000461742.2_Missense_Mutation_p.R435Q NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B 435 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 CACCCGCAGCCGCAGGGCCCC 0.602000 5 136 0 0 1 0 0 IBA57 200205 broad.mit.edu 37 1 228362506 228362506 + Missense_Mutation SNP A A G TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr1:228362506A>G ENST00000366711.3 + 2 457 c.455A>G c.(454-456)gAg>gGg p.E152G IBA57_ENST00000484749.1_3'UTR|IBA57_ENST00000546123.1_5'UTR NM_001010867.2 NP_001010867.1 Q5T440 CAF17_HUMAN IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae) 152 glycine catabolic process|heme biosynthetic process mitochondrion aminomethyltransferase activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1) 11 GTCACGGTGGAGCCGCACCCG 0.682000 7 19 0 0 1 0 0 SLC4A5 57835 broad.mit.edu 37 2 74460691 74460691 + Splice_Site SNP C C G TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr2:74460691C>G ENST00000394019.2 - 23 2831 c.e23-1 SLC4A5_ENST00000423644.1_Splice_Site|SLC4A5_ENST00000377632.1_Splice_Site|SLC4A5_ENST00000377634.4_Splice_Site|SLC4A5_ENST00000359484.4_Splice_Site|SLC4A5_ENST00000358683.4_Splice_Site|SLC4A5_ENST00000357822.5_Splice_Site|SLC4A5_ENST00000346834.4_Splice_Site|SLC4A5_ENST00000483195.1_Splice_Site|RP11-287D1.3_ENST00000451608.2_Splice_Site NM_133478.2 NP_597812.1 Q9BY07 S4A5_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 5 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 GCCGCGTTGGCTGAGTGGGAG 0.627000 5 28 0 0 1 0 0 SPTBN1 6711 broad.mit.edu 37 2 54853322 54853322 + Missense_Mutation SNP A A C TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr2:54853322A>C ENST00000333896.5 + 11 1941 c.1556A>C c.(1555-1557)aAg>aCg p.K519T SPTBN1_ENST00000356805.4_Missense_Mutation_p.K532T NM_178313.2 NP_842565.2 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 532 actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 82 Lung(47;0.24) GGGCTGCAGAAGATATTCCAG 0.522000 32 51 0 0 1 0 0 PRPF40A 55660 broad.mit.edu 37 2 153573945 153573945 + Missense_Mutation SNP G G C TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr2:153573945G>C ENST00000410080.1 - 1 550 c.9C>G c.(7-9)agC>agG p.S3R PRPF40A_ENST00000486100.1_5'UTR NM_017892.3 NP_060362.3 O75400 PR40A_HUMAN PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae) 0 mRNA processing|RNA splicing nuclear matrix|nuclear speck protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1) 21 GGCCACTGCCGCTACACATAC 0.647000 7 99 0 0 1 0 0 OR8I2 120586 broad.mit.edu 37 11 55861181 55861181 + Nonsense_Mutation SNP C C A TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr11:55861181C>A ENST00000302124.2 + 1 429 c.398C>A c.(397-399)tCa>tAa p.S133* OR8I2_ENST00000560768.1_Nonsense_Mutation_p.S133* Q8N0Y5 OR8I2_HUMAN olfactory receptor, family 8, subfamily I, member 2 133 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 53 Esophageal squamous(21;0.00693) TTACTGTATTCAGTAGTCATG 0.433000 12 158 4.3838e-07 4.80804e-07 1 1 0 PIK3AP1 118788 broad.mit.edu 37 10 98469621 98469621 + Missense_Mutation SNP G G T TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr10:98469621G>T ENST00000339364.5 - 2 252 c.133C>A c.(133-135)Cac>Aac p.H45N NM_152309.2 NP_689522.2 Q6ZUJ8 BCAP_HUMAN phosphoinositide-3-kinase adaptor protein 1 45 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) CCCAGCCTGTGAGTCAGTATC 0.627000 5 65 0.0215528 0.0222059 1 1 0 RLIM 51132 broad.mit.edu 37 X 73811606 73811606 + Missense_Mutation SNP C C T rs143249444 by1000genomes TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chrX:73811606C>T ENST00000332687.6 - 4 1762 c.1544G>A c.(1543-1545)aGg>aAg p.R515K RLIM_ENST00000349225.2_Missense_Mutation_p.R515K NM_016120.3 NP_057204.2 Q9NVW2 RNF12_HUMAN ring finger protein, LIM domain interacting 515 random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|transcriptional repressor complex transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 GACTGGGGCCCTATGTCGACC 0.478000 4 62 0 0 1 0 0 FBXO31 79791 broad.mit.edu 37 16 87377224 87377224 + Missense_Mutation SNP G G T TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr16:87377224G>T ENST00000311635.7 - 4 649 c.637C>A c.(637-639)Ccc>Acc p.P213T NM_024735.3 NP_079011.3 Q5XUX0 FBX31_HUMAN F-box protein 31 213 cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process SCF ubiquitin ligase complex cyclin binding endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1) 17 BRCA - Breast invasive adenocarcinoma(80;0.0272) CCGTGGTGGGGCCCTTTGTGG 0.632000 5 10 1 1 1 1 0 ABLIM3 22885 broad.mit.edu 37 5 148617020 148617020 + Missense_Mutation SNP G G C TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr5:148617020G>C ENST00000506113.1 + 10 1380 c.898G>C c.(898-900)Gat>Cat p.D300H RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000309868.7_Missense_Mutation_p.D300H|ABLIM3_ENST00000356541.3_Intron|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000504238.1_Intron|ABLIM3_ENST00000508983.1_Missense_Mutation_p.D300H|ABLIM3_ENST00000326685.7_Intron|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000519549.1_3'UTR O94929 ABLM3_HUMAN actin binding LIM protein family, member 3 300 axon guidance|cytoskeleton organization cytoplasm actin binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCTAAAGTGGATAATGAGAT 0.443000 14 107 0 0 1 0 0 KCNH6 81033 broad.mit.edu 37 17 61611659 61611659 + Missense_Mutation SNP C C T TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr17:61611659C>T ENST00000583023.1 + 5 1099 c.1088C>T c.(1087-1089)aCt>aTt p.T363I KCNH6_ENST00000581784.1_Missense_Mutation_p.T363I|KCNH6_ENST00000314672.5_Missense_Mutation_p.T363I|KCNH6_ENST00000580652.1_Missense_Mutation_p.T363I|KCNH6_ENST00000456941.2_Missense_Mutation_p.T363I NM_030779.2 NP_110406.1 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 6 363 regulation of transcription, DNA-dependent|signal transduction breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 Ibutilide(DB00308) ATCTTCCGCACTGGCTCCGAT 0.652000 6 81 0 0 1 0 0 TPTE 7179 broad.mit.edu 37 21 10942711 10942711 + Splice_Site SNP C C T TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr21:10942711C>T ENST00000298232.7 - 12 1043 c.676_splice c.e12+1 p.E226_splice TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Splice_Site_p.E206_splice|TPTE_ENST00000361285.4_Splice_Site_p.E244_splice NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 244 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.E226K(1) 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) TGTCACAAACCTGTAACGTAA 0.333000 25 398 0 0 1 0 0 SPAG4 6676 broad.mit.edu 37 20 34203933 34203933 + Missense_Mutation SNP G G T TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr20:34203933G>T ENST00000374273.3 + 1 120 c.8G>T c.(7-9)cGa>cTa p.R3L NM_003116.1 NP_003107.1 Q9NPE6 SPAG4_HUMAN sperm associated antigen 4 3 spermatogenesis cilium|flagellar axoneme|integral to membrane structural molecule activity NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1) 21 Lung NSC(9;0.0053)|all_lung(11;0.00785) BRCA - Breast invasive adenocarcinoma(18;0.0127) AGGATGCGGCGAAGCTCCCGC 0.677000 9 64 9.70103e-10 1.08737e-09 1 1 0 CDHR1 92211 broad.mit.edu 37 10 85956372 85956372 + Missense_Mutation SNP G G A TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr10:85956372G>A ENST00000372117.3 + 3 366 c.263G>A c.(262-264)gGa>gAa p.G88E CDHR1_ENST00000332904.3_Missense_Mutation_p.G88E NM_033100.2 NP_149091.1 Q96JP9 CDHR1_HUMAN cadherin-related family member 1 88 Cadherin 1. homophilic cell adhesion calcium ion binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1) 36 CCCACTTTTGGAAACATCACC 0.562000 6 112 0 0 1 0 0 CYP4F3 4051 broad.mit.edu 37 19 15760978 15760978 + Silent SNP A A G TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr19:15760978A>G ENST00000221307.7 + 7 951 c.903A>G c.(901-903)gtA>gtG p.V301V CYP4F3_ENST00000592424.1_3'UTR|CYP4F3_ENST00000586182.1_Silent_p.V301V|CYP4F3_ENST00000585846.1_Silent_p.V301V|CYP4F3_ENST00000591058.1_Silent_p.V301V NM_000896.2 NP_000887.2 Q08477 CP4F3_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 3 301 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 TCATTGATGTACTCCTGCTGA 0.507000 6 99 0 0 1 0 0 FOXG1 2290 broad.mit.edu 37 14 29237831 29237831 + Missense_Mutation SNP C C T TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr14:29237831C>T ENST00000382535.3 + 2 1715 c.1346C>T c.(1345-1347)tCg>tTg p.S449L FOXG1_ENST00000313071.4_Missense_Mutation_p.S449L P55316 FOXG1_HUMAN forkhead box G1 449 QAPST -> AGPPRP (in Ref. 1; CAA52240 and 2; CAA55038).|ST -> RP (in Ref. 1; CAA52239). axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2) 43 LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575) GBM - Glioblastoma multiforme(265;0.00413) CAGGCCCCCTCGACCCTGCCC 0.582000 10 101 0 0 1 0 0 TAF1C 9013 broad.mit.edu 37 16 84215615 84215615 + Silent SNP C C T TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr16:84215615C>T ENST00000567759.1 - 8 953 c.771G>A c.(769-771)ggG>ggA p.G257G TAF1C_ENST00000566732.1_Silent_p.G257G|TAF1C_ENST00000541676.1_Silent_p.G190G|TAF1C_ENST00000378541.4_Silent_p.G257G|TAF1C_ENST00000341690.6_Silent_p.G190G|TAF1C_ENST00000570117.1_5'UTR NM_005679.3 NP_005670.3 Q15572 TAF1C_HUMAN TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa 257 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 26 GTCCAGGTTTCCCAAGGAATT 0.547000 11 84 0 0 1 0 0 NXF5 55998 broad.mit.edu 37 X 101092607 101092607 + Silent SNP T T C TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chrX:101092607T>C ENST00000537026.1 - 15 1298 c.939A>G c.(937-939)ctA>ctG p.L313L NXF5_ENST00000473265.2_Silent_p.L313L|NXF5_ENST00000361708.2_Silent_p.L313L NM_032946.2 NP_116564.2 Q9H1B4 NXF5_HUMAN nuclear RNA export factor 5 313 NTF2; truncated. mRNA export from nucleus|multicellular organismal development actin cytoskeleton|cytoplasm|nucleus nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1) 30 TTGTGTGCTTTAGCAGCTTCC 0.537000 26 161 0 0 1 0 0 SLC6A10P 386757 broad.mit.edu 37 16 32890639 32890639 + RNA SNP T T C rs79284655 TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr16:32890639T>C ENST00000330048.5 - 0 3159 NR_003083.2 ACCAGCGGCTTGTAGTACACA 0.627000 3 30 0 0 1 0 0 STOML3 161003 broad.mit.edu 37 13 39541063 39541063 + Nonsense_Mutation SNP C C A TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr13:39541063C>A ENST00000379631.4 - 7 1119 c.775G>T c.(775-777)Gag>Tag p.E259* STOML3_ENST00000423210.1_Nonsense_Mutation_p.E250* NM_145286.2 NP_660329.1 Q8TAV4 STML3_HUMAN stomatin (EPB72)-like 3 259 integral to membrane|plasma membrane breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1) 11 Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743) all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137) GAATTCTTCTCGGTGGCTACC 0.507000 11 15 3.07112e-06 3.33249e-06 1 1 0 MUC3A 4584 broad.mit.edu 37 7 100608808 100608808 + Silent SNP C C G TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr7:100608808C>G ENST00000319509.7 + 7 2187 c.2187C>G c.(2185-2187)gtC>gtG p.V729V RP11-395B7.2_ENST00000420080.1_RNA mucin 3A, cell surface associated breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 TCCGCTGTGTCACCAAATGCA 0.662000 4 64 0 0 1 0 0 CRB1 23418 broad.mit.edu 37 1 197297641 197297641 + Missense_Mutation SNP T T C TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr1:197297641T>C ENST00000367400.3 + 2 295 c.160T>C c.(160-162)Tgt>Cgt p.C54R CRB1_ENST00000538660.1_Missense_Mutation_p.C54R|CRB1_ENST00000367399.2_Missense_Mutation_p.C54R|CRB1_ENST00000535699.1_5'UTR NM_201253.2 NP_957705.1 P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 54 EGF-like 1. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 AGACAATGATTGTTCTTGTTC 0.383000 11 55 0 0 1 0 0 COPB2 9276 broad.mit.edu 37 3 139096946 139096946 + Missense_Mutation SNP C C G TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr3:139096946C>G ENST00000333188.5 - 5 622 c.441G>C c.(439-441)caG>caC p.Q147H COPB2_ENST00000507777.1_Missense_Mutation_p.Q118H NM_004766.2 NP_004757.1 P35606 COPB2_HUMAN coatomer protein complex, subunit beta 2 (beta prime) 147 COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol protein binding|structural molecule activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 24 TGATCACAATCTGCATAACAT 0.403000 5 159 0 0 1 0 0 CELA3B 23436 broad.mit.edu 37 1 22310245 22310245 + Missense_Mutation SNP C C G TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr1:22310245C>G ENST00000337107.6 + 5 440 c.421C>G c.(421-423)Ctc>Gtc p.L141V NM_007352.2 NP_031378.1 P08861 CEL3B_HUMAN chymotrypsin-like elastase family, member 3B 141 Peptidase S1. cholesterol metabolic process|proteolysis extracellular region serine-type endopeptidase activity breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1) 8 CGCCGTCCAGCTCGCCTCACT 0.632000 8 119 0 0 1 0 0 LARP1 23367 broad.mit.edu 37 5 154172335 154172335 + Nonsense_Mutation SNP C C T TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr5:154172335C>T ENST00000336314.4 + 4 511 c.487C>T c.(487-489)Cga>Tga p.R163* NM_015315.3 NP_056130.2 Q6PKG0 LARP1_HUMAN La ribonucleoprotein domain family, member 1 240 protein binding|RNA binding breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 33 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) GGATTGCCAGCGAGGCGGGCA 0.512000 22 44 0 0 1 0 0 EFCAB6 64800 broad.mit.edu 37 22 44004438 44004438 + Missense_Mutation SNP G G A TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr22:44004438G>A ENST00000262726.7 - 22 2858 c.2605C>T c.(2605-2607)Cgc>Tgc p.R869C EFCAB6_ENST00000396231.2_Missense_Mutation_p.R717C NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 869 EF-hand 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) ATGTCCCGGCGTCGAAGAATG 0.438000 6 87 0 0 1 0 0 NEU3 10825 broad.mit.edu 37 11 74716698 74716698 + Missense_Mutation SNP G G T TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr11:74716698G>T ENST00000294064.4 + 3 1474 c.547G>T c.(547-549)Ggc>Tgc p.G183C NEU3_ENST00000544263.1_Missense_Mutation_p.G150C|NEU3_ENST00000532963.1_3'UTR|NEU3_ENST00000531509.1_Missense_Mutation_p.G183C|NEU3_ENST00000529024.1_Intron|NEU3_ENST00000545272.1_Missense_Mutation_p.G74C NM_006656.5 NP_006647.3 A8K327 A8K327_HUMAN sialidase 3 (membrane sialidase) 183 kidney(2)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 11 GGAGGTCATTGGCTCAGAGCT 0.547000 16 171 3.52763e-06 3.8076e-06 1 1 0 NCKAP1 10787 broad.mit.edu 37 2 183853802 183853802 + Missense_Mutation SNP G G C TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr2:183853802G>C ENST00000360982.2 - 10 1679 c.921C>G c.(919-921)ttC>ttG p.F307L NCKAP1_ENST00000361354.3_Missense_Mutation_p.F301L NM_205842.1 NP_995314.1 Q9Y2A7 NCKP1_HUMAN NCK-associated protein 1 301 apoptosis|central nervous system development integral to membrane|lamellipodium membrane protein binding breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 45 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) TGTGAATGTGGAAAACTTCAT 0.413000 8 67 0 0 1 0 0 DDB1 1642 broad.mit.edu 37 11 61081540 61081540 + Missense_Mutation SNP G G A TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr11:61081540G>A ENST00000301764.7 - 14 2129 c.1732C>T c.(1732-1734)Cac>Tac p.H578Y DDB1_ENST00000450997.2_Intron NM_001923.4 NP_001914.3 Q16531 DDB1_HUMAN damage-specific DNA binding protein 1, 127kDa 578 Interaction with CDT1.|Interaction with CUL4A. cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm damaged DNA binding|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 48 ATCTCCTTGTGCAGTAGTTCA 0.502000 Nucleotide excision repair (NER) 24 81 0 0 1 0 0 ATP11C 286410 broad.mit.edu 37 X 138820082 138820082 + Missense_Mutation SNP C C T TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chrX:138820082C>T ENST00000370557.1 - 28 4299 c.3272G>A c.(3271-3273)aGt>aAt p.S1091N ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000327569.3_Missense_Mutation_p.S1097N|ATP11C_ENST00000359686.2_Missense_Mutation_p.S1097N|ATP11C_ENST00000361648.2_Missense_Mutation_p.S1097N|ATP11C_ENST00000370543.1_Missense_Mutation_p.S1097N Q8NB49 AT11C_HUMAN ATPase, class VI, type 11C 1097 ATP biosynthetic process integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3) 75 Acute lymphoblastic leukemia(192;0.000127) TACCCTGGCACTTCTTCTTCT 0.353000 5 53 0 0 1 0 0 M1AP 130951 broad.mit.edu 37 2 74867189 74867189 + Missense_Mutation SNP G G T TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr2:74867189G>T ENST00000290536.5 - 2 330 c.214C>A c.(214-216)Cag>Aag p.Q72K M1AP_ENST00000409585.1_Missense_Mutation_p.Q72K|M1AP_ENST00000358434.2_5'UTR|M1AP_ENST00000536235.1_Missense_Mutation_p.Q72K NM_138804.3 NP_620159.2 meiosis 1 associated protein CACTCATGCTGATCTTGTACC 0.443000 16 73 6.49762e-13 7.48878e-13 1 1 0 ACE 1636 broad.mit.edu 37 17 61561748 61561748 + Silent SNP C C T rs140086153 TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr17:61561748C>T ENST00000290866.4 + 12 1791 c.1767C>T c.(1765-1767)gtC>gtT p.V589V ACE_ENST00000428043.1_Silent_p.V589V NM_000789.3 NP_000780.1 P12821 ACE_HUMAN angiotensin I converting enzyme 589 Peptidase M2 1. 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) AGGACATGGTCGGCTTAGATG 0.642000 6 40 0 0 1 0 0 CCDC15 80071 broad.mit.edu 37 11 124857840 124857840 + Missense_Mutation SNP A A G TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr11:124857840A>G ENST00000529051.1 + 8 1977 c.1718A>G c.(1717-1719)gAc>gGc p.D573G CCDC15_ENST00000344762.5_Missense_Mutation_p.D573G Q0P6D6 CCD15_HUMAN coiled-coil domain containing 15 573 centrosome central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1) 23 all_hematologic(175;0.215) Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413) CTTCCCAAAGACCAAAATATT 0.433000 9 381 0 0 1 0 0 TULP4 56995 broad.mit.edu 37 6 158923996 158923996 + Missense_Mutation SNP G G C TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr6:158923996G>C ENST00000367097.3 + 13 4658 c.3301G>C c.(3301-3303)Gag>Cag p.E1101Q TULP4_ENST00000367094.2_Intron NM_020245.4 NP_064630.2 Q9NRJ4 TULP4_HUMAN tubby like protein 4 1101 intracellular signal transduction|response to nutrient cytoplasm protein binding|sequence-specific DNA binding transcription factor activity endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171) OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05) CTGTCAGCTTGAGAAGCCCTT 0.647000 9 125 0 0 1 0 0 NAP1L3 4675 broad.mit.edu 37 X 92927112 92927112 + Missense_Mutation SNP C C T TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chrX:92927112C>T ENST00000373079.3 - 1 1455 c.1192G>A c.(1192-1194)Gat>Aat p.D398N NAP1L3_ENST00000475430.1_5'UTR NM_004538.5 NP_004529.2 Q99457 NP1L3_HUMAN nucleosome assembly protein 1-like 3 398 nucleosome assembly chromatin assembly complex haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 34 CCTTTGCAATCTTCAATTTCC 0.423000 3 29 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577117 7577117 + Missense_Mutation SNP A A C TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr17:7577117A>C ENST00000420246.2 - 8 953 c.821T>G c.(820-822)gTt>gGt p.V274G TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.V274G|TP53_ENST00000359597.4_Missense_Mutation_p.V274G|TP53_ENST00000455263.2_Missense_Mutation_p.V274G|TP53_ENST00000269305.4_Missense_Mutation_p.V274G NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 274 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (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.V274A(19)|p.V274D(9)|p.V274G(8)|p.0?(8)|p.?(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.V274_P278del(1)|p.F270_D281del12(1)|p.V272_K292del21(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) ACAGGCACAAACACGCACCTC 0.552000 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) 16 13 0 0 1 0 0 TRMT1L 81627 broad.mit.edu 37 1 185089245 185089245 + Missense_Mutation SNP C C G TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr1:185089245C>G ENST00000367506.5 - 15 2376 c.2108G>C c.(2107-2109)aGc>aCc p.S703T TRMT1L_ENST00000367504.3_3'UTR|TRMT1L_ENST00000465827.1_5'UTR NM_001202423.1|NM_030934.4 NP_001189352.1|NP_112196.3 Q7Z2T5 TRM1L_HUMAN tRNA methyltransferase 1 homolog (S. cerevisiae)-like 703 intracellular RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 21 CTGGACATGGCTTTCTGACTG 0.448000 29 134 0 0 1 0 0 IGF2R 3482 broad.mit.edu 37 6 160453657 160453657 + Missense_Mutation SNP C C G TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr6:160453657C>G ENST00000356956.1 + 8 1105 c.957C>G c.(955-957)caC>caG p.H319Q NM_000876.2 NP_000867.2 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor 319 receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) ATGCCTGCCACAGAGATTACC 0.493000 17 114 0 0 1 0 0 PMS2 5395 broad.mit.edu 37 7 6026806 6026806 + Silent SNP C C T TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr7:6026806C>T ENST00000265849.7 - 11 1695 c.1590G>A c.(1588-1590)caG>caA p.Q530Q PMS2_ENST00000382321.4_Intron|PMS2_ENST00000441476.2_Silent_p.Q424Q|PMS2_ENST00000406569.3_Silent_p.Q530Q|PMS2_ENST00000469652.1_Intron NM_000535.5 NP_000526.1 P54278 PMS2_HUMAN PMS2 postmeiotic segregation increased 2 (S. cerevisiae) 530 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) CCACATGTTCCTGCGAGCCCC 0.552000 """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 8 298 0 0 1 0 0 WSB1 26118 broad.mit.edu 37 17 25628923 25628923 + Silent SNP T T C TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr17:25628923T>C ENST00000262394.2 + 2 466 c.150T>C c.(148-150)gcT>gcC p.A50A WSB1_ENST00000427287.2_Silent_p.A19A|WSB1_ENST00000578312.1_3'UTR|WSB1_ENST00000348811.2_Intron|WSB1_ENST00000579733.1_Intron|WSB1_ENST00000581185.1_Silent_p.A50A|WSB1_ENST00000583193.1_Intron NM_015626.8 NP_056441.6 Q9Y6I7 WSB1_HUMAN WD repeat and SOCS box containing 1 50 intracellular signal transduction intracellular protein binding lung(3) 3 all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152) BRCA - Breast invasive adenocarcinoma(3;0.0152) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) CATACTTTGCTTGGTCACAAG 0.423000 44 282 0 0 1 0 0 POMGNT2 84892 broad.mit.edu 37 3 43121448 43121448 + Silent SNP C C T TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr3:43121448C>T ENST00000344697.2 - 2 1821 c.1476G>A c.(1474-1476)gcG>gcA p.A492A GTDC2_ENST00000441964.1_Silent_p.A492A NM_032806.4 NP_116195.2 CATGCACTGACGCCTGGCACC 0.622000 17 64 0 0 1 0 0 CDH13 1012 broad.mit.edu 37 16 83781743 83781743 + Missense_Mutation SNP G G T TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr16:83781743G>T ENST00000566620.1 + 11 1859 c.1569G>T c.(1567-1569)tgG>tgT p.W523C RP11-298D21.1_ENST00000563981.1_RNA|CDH13_ENST00000428848.3_Missense_Mutation_p.W484C|RP11-298D21.1_ENST00000570056.1_RNA|CDH13_ENST00000268613.10_Missense_Mutation_p.W570C|RP11-298D21.1_ENST00000569165.1_RNA 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 13 523 Cadherin 4. 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) CAGCAGGTTGGCTGAATATTA 0.468000 38 163 2.19358e-23 2.60169e-23 1 1 0 FOXH1 8928 broad.mit.edu 37 8 145699898 145699898 + Missense_Mutation SNP C C A TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr8:145699898C>A ENST00000377317.4 - 3 1399 c.821G>T c.(820-822)tGg>tTg p.W274L NM_003923.2 NP_003914.1 O75593 FOXH1_HUMAN forkhead box H1 274 SMAD-interaction domain (SID). axial mesoderm development|blood vessel development|cell migration involved in gastrulation|embryonic heart tube anterior/posterior pattern formation|floor plate formation|heart looping|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|specification of organ position|transforming growth factor beta receptor signaling pathway activin responsive factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|R-SMAD 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 factor binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 5 all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.76e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) CAGCTGCCCCCAGAGGGAGGC 0.647000 14 127 0.00244969 0.00256276 1 1 0 SMARCA1 6594 broad.mit.edu 37 X 128645931 128645931 + Silent SNP A A T TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chrX:128645931A>T ENST00000371122.4 - 6 789 c.660T>A c.(658-660)gcT>gcA p.A220A SMARCA1_ENST00000478420.1_5'UTR|SMARCA1_ENST00000371121.3_Silent_p.A220A|SMARCA1_ENST00000371123.1_Silent_p.A220A NM_003069.3 NP_003060.2 P28370 SMCA1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 220 Helicase ATP-binding. ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent NURF complex ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1) 45 AACCAAGCAAAGCAATTGTTT 0.353000 32 408 0 0 1 0 0 ATP6AP1 537 broad.mit.edu 37 X 153662714 153662714 + Missense_Mutation SNP G G T TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chrX:153662714G>T ENST00000369762.2 + 7 906 c.845G>T c.(844-846)tGg>tTg p.W282L NM_001183.4 NP_001174.2 Q15904 VAS1_HUMAN ATPase, H+ transporting, lysosomal accessory protein 1 282 ATP hydrolysis coupled proton transport integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5) 14 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) AAGGACCAGTGGGAGGACCTG 0.572000 28 207 5.61819e-17 6.58684e-17 1 1 0 NCOR2 9612 broad.mit.edu 37 12 124856702 124856702 + Silent SNP G G C TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr12:124856702G>C ENST00000356219.3 - 21 2828 c.2673C>G c.(2671-2673)ctC>ctG p.L891L NCOR2_ENST00000429285.2_Silent_p.L873L|NCOR2_ENST00000405201.1_Silent_p.L891L|NCOR2_ENST00000404121.2_Silent_p.L444L|NCOR2_ENST00000397355.1_Silent_p.L874L|NCOR2_ENST00000404621.1_Silent_p.L873L NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 891 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) TCTCTGCCTTGAGCGCCCCCT 0.716000 9 120 0 0 1 0 0 NLRP9 338321 broad.mit.edu 37 19 56244797 56244797 + Missense_Mutation SNP C C G TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr19:56244797C>G ENST00000332836.2 - 2 427 c.400G>C c.(400-402)Gaa>Caa p.E134Q NM_176820.2 NP_789790.2 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 134 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) TCATTCAATTCTTTATACTCA 0.398000 6 63 0 0 1 0 0 GPR183 1880 broad.mit.edu 37 13 99947698 99947698 + Missense_Mutation SNP C C G TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr13:99947698C>G ENST00000376414.4 - 2 785 c.702G>C c.(700-702)gaG>gaC p.E234D UBAC2_ENST00000403766.3_Intron|UBAC2_ENST00000376440.2_Intron NM_004951.4 NP_004942.1 P32249 GP183_HUMAN G protein-coupled receptor 183 234 humoral immune response|mature B cell differentiation involved in immune response integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled cervix(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(10)|prostate(1)|skin(1) 23 CACCAGATTTCTCAGTGAGTG 0.353000 19 190 0 0 1 0 0 ZNF827 152485 broad.mit.edu 37 4 146823697 146823697 + Missense_Mutation SNP C C A TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr4:146823697C>A ENST00000508784.1 - 2 941 c.714G>T c.(712-714)gaG>gaT p.E238D ZNF827_ENST00000379448.4_Missense_Mutation_p.E238D|ZNF827_ENST00000513320.1_Intron Q17R98 ZN827_HUMAN zinc finger protein 827 238 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all_hematologic(180;0.151) AGGAAAAGGACTCAAATCGCA 0.517000 17 51 7.07596e-05 7.47925e-05 1 1 0 SHANK3 85358 broad.mit.edu 37 22 51159540 51159540 + Missense_Mutation SNP C C A TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr22:51159540C>A ENST00000414786.2 + 21 3464 c.3237C>A c.(3235-3237)ttC>ttA p.F1079L SHANK3_ENST00000262795.3_Missense_Mutation_p.F1109L|SHANK3_ENST00000445220.2_Missense_Mutation_p.F1095L F2Z3L0 F2Z3L0_HUMAN SH3 and multiple ankyrin repeat domains 3 1109 central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5) 8 all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.22) GTTCCACCTTCATCCACCCAC 0.741000 5 23 0.014758 0.0152824 1 1 0 SLC5A11 115584 broad.mit.edu 37 16 24895389 24895389 + Missense_Mutation SNP A A G TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr16:24895389A>G ENST00000347898.3 + 8 1223 c.601A>G c.(601-603)Atc>Gtc p.I201V SLC5A11_ENST00000449109.2_Missense_Mutation_p.I137V|SLC5A11_ENST00000569071.1_Missense_Mutation_p.I137V|SLC5A11_ENST00000545376.1_Missense_Mutation_p.I131V|SLC5A11_ENST00000568579.1_Missense_Mutation_p.I131V|SLC5A11_ENST00000567758.1_Missense_Mutation_p.I166V|SLC5A11_ENST00000565769.1_Missense_Mutation_p.I137V|SLC5A11_ENST00000424767.2_Missense_Mutation_p.I166V|SLC5A11_ENST00000539472.1_Missense_Mutation_p.I137V NM_052944.3 NP_443176.2 Q8WWX8 SC5AB_HUMAN solute carrier family 5 (sodium/inositol cotransporter), member 11 201 apoptosis|carbohydrate transport|sodium ion transport integral to membrane|plasma membrane polyol transmembrane transporter activity|symporter activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1) 49 GBM - Glioblastoma multiforme(48;0.0365) GGCTGCTGTGATCTACACGGA 0.602000 107 231 0 0 1 0 0 CNPY2 10330 broad.mit.edu 37 12 56708718 56708718 + Missense_Mutation SNP C C G TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr12:56708718C>G ENST00000273308.4 - 3 661 c.121G>C c.(121-123)Gaa>Caa p.E41Q RP11-977G19.10_ENST00000549318.1_Missense_Mutation_p.E41Q|CNPY2_ENST00000551720.1_5'UTR NM_014255.5 NP_055070.1 Q9Y2B0 CNPY2_HUMAN canopy FGF signaling regulator 2 41 Saposin B-type. endoplasmic reticulum|integral to plasma membrane protein binding large_intestine(2)|lung(2) 4 TGGGCAATTTCCCATTCTAGT 0.537000 3 66 0 0 1 0 0 HS3ST5 222537 broad.mit.edu 37 6 114379171 114379171 + Silent SNP C C G TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr6:114379171C>G ENST00000312719.5 - 5 1479 c.291G>C c.(289-291)ggG>ggC p.G97G RP3-399L15.3_ENST00000523087.1_RNA|RP3-399L15.3_ENST00000519270.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA|HS3ST5_ENST00000411826.1_Silent_p.G97G Q8IZT8 HS3S5_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 5 97 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 p.G97G(1) 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) CTTTCCTCACCCCAATGATAA 0.537000 43 61 0 0 1 0 0 MATN1 4146 broad.mit.edu 37 1 31188053 31188053 + Missense_Mutation SNP G G C TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr1:31188053G>C ENST00000373765.4 - 6 1346 c.1311C>G c.(1309-1311)ttC>ttG p.F437L NM_002379.3 NP_002370.1 P21941 MATN1_HUMAN matrilin 1, cartilage matrix protein 437 VWFA 2. protein complex assembly proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 12 Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123) Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649) TGATGGTCTTGAAGTCAGCCG 0.532000 13 150 0 0 1 0 0 LRRC8B 23507 broad.mit.edu 37 1 90049439 90049439 + Silent SNP G G T TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr1:90049439G>T ENST00000330947.2 + 5 1590 c.1230G>T c.(1228-1230)ctG>ctT p.L410L LRRC8B_ENST00000358200.4_Silent_p.L410L|LRRC8B_ENST00000439853.1_Silent_p.L410L|RP5-1007M22.2_ENST00000443562.1_RNA NM_001134476.1 NP_001127948.1 Q6P9F7 LRC8B_HUMAN leucine rich repeat containing 8 family, member B 410 integral to membrane breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 26 all_lung(203;0.17) all cancers(265;0.00515)|Epithelial(280;0.0241) TTGAGAAACTGAAAAGTAAGC 0.383000 11 113 3.86212e-05 4.12499e-05 1 1 0 SPAG4 6676 broad.mit.edu 37 20 34204074 34204074 + Missense_Mutation SNP G G C TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr20:34204074G>C ENST00000374273.3 + 1 261 c.149G>C c.(148-150)aGa>aCa p.R50T NM_003116.1 NP_003107.1 Q9NPE6 SPAG4_HUMAN sperm associated antigen 4 50 spermatogenesis cilium|flagellar axoneme|integral to membrane structural molecule activity NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1) 21 Lung NSC(9;0.0053)|all_lung(11;0.00785) BRCA - Breast invasive adenocarcinoma(18;0.0127) CCCGAGGGCAGAAGAGCCCGG 0.677000 6 18 0 0 1 0 0 LHCGR 3973 broad.mit.edu 37 2 48958435 48958435 + Missense_Mutation SNP G G A TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr2:48958435G>A ENST00000294954.7 - 2 185 c.164C>T c.(163-165)tCa>tTa p.S55L LHCGR_ENST00000344775.3_Missense_Mutation_p.S55L|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000405626.1_Missense_Mutation_p.S55L|LHCGR_ENST00000403273.1_Missense_Mutation_p.S55L|LHCGR_ENST00000401907.1_Missense_Mutation_p.S55L NM_000233.3 NP_000224.2 P22888 LSHR_HUMAN luteinizing hormone/choriogonadotropin receptor 55 LRRNT. 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) GTAGGCAAGTGATCTAGAAAA 0.353000 15 56 0 0 1 0 0 ZNF789 285989 broad.mit.edu 37 7 99084759 99084759 + Missense_Mutation SNP G G C TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr7:99084759G>C ENST00000331410.5 + 5 1196 c.926G>C c.(925-927)gGa>gCa p.G309A ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000494186.1_Intron NM_213603.2 NP_998768.2 Q5FWF6 ZN789_HUMAN zinc finger protein 789 309 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1) 11 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) ATCCATAGTGGAGAAAAACGC 0.393000 8 77 0 0 1 0 0 PLB1 151056 broad.mit.edu 37 2 28854920 28854920 + Silent SNP C C T TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr2:28854920C>T ENST00000422425.2 + 54 3926 c.3882C>T c.(3880-3882)ttC>ttT p.F1294F PLB1_ENST00000541605.1_Silent_p.F270F|PLB1_ENST00000327757.5_Silent_p.F1305F NM_001170585.1 NP_001164056.1 Q6P1J6 PLB1_HUMAN phospholipase B1 1305 4 X 308-326 AA approximate repeats. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2) 69 Acute lymphoblastic leukemia(172;0.155) TCTCCAGTTTCTCCTACTGGC 0.557000 7 96 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135445703 135445703 + Nonsense_Mutation SNP C C T TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chrX:135445703C>T ENST00000394143.1 + 13 7636 c.7345C>T c.(7345-7347)Caa>Taa p.Q2449* GPR112_ENST00000370652.1_Nonsense_Mutation_p.Q2449*|GPR112_ENST00000287534.4_Nonsense_Mutation_p.Q2247*|GPR112_ENST00000412101.1_Nonsense_Mutation_p.Q2244*|GPR112_ENST00000394141.1_Nonsense_Mutation_p.Q2244* NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 2449 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) CAAATTGCTTCAAGAACTTCC 0.348000 8 93 0 0 1 0 0 TMEM155 132332 broad.mit.edu 37 4 122682998 122682998 + Missense_Mutation SNP A A C TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr4:122682998A>C ENST00000337677.5 - 4 599 c.41T>G c.(40-42)cTa>cGa p.L14R TMEM155_ENST00000394396.1_Missense_Mutation_p.L14R|TMEM155_ENST00000394394.1_Missense_Mutation_p.L14R NM_152399.2 NP_689612.2 Q4W5P6 TM155_HUMAN transmembrane protein 155 14 extracellular region breast(1)|lung(5) 6 TTTGGAAATTAGTGCAACAGC 0.333000 10 52 0 0 1 0 0 DCAF8L2 347442 broad.mit.edu 37 X 27766390 27766390 + Missense_Mutation SNP A A G TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chrX:27766390A>G ENST00000451261.2 + 5 1777 c.1378A>G c.(1378-1380)Agt>Ggt p.S460G NM_001136533.1 NP_001130005.1 DDB1 and CUL4 associated factor 8-like 2 central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3) 24 TGCTCAATACAGTAAGAGATT 0.463000 7 68 0 0 1 0 0 LCK 3932 broad.mit.edu 37 1 32751131 32751131 + Missense_Mutation SNP G G T TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr1:32751131G>T ENST00000333070.4 + 13 1534 c.1434G>T c.(1432-1434)gaG>gaT p.E478D LCK_ENST00000373564.3_Missense_Mutation_p.E455D|LCK_ENST00000336890.5_Missense_Mutation_p.E448D NM_001042771.1 NP_001036236.1 P06239 LCK_HUMAN lymphocyte-specific protein tyrosine kinase 448 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) CCAACCCGGAGGTGATTCAGA 0.562000 T TRB@ T-ALL 13 168 0.000422831 0.000444627 1 1 0 STOML2 30968 broad.mit.edu 37 9 35101478 35101478 + Missense_Mutation SNP T T G TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr9:35101478T>G ENST00000356493.5 - 6 586 c.524A>C c.(523-525)tAt>tCt p.Y175S STOML2_ENST00000452248.2_Intron NM_013442.1 NP_038470.1 Q9UJZ1 STML2_HUMAN stomatin (EPB72)-like 2 175 cytoskeleton receptor binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1) 16 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) CTTGATCTCATAACGGAGGCA 0.572000 90 129 0 0 1 0 0 RPL13 6137 broad.mit.edu 37 16 89628078 89628078 + Silent SNP C C T TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr16:89628078C>T ENST00000393099.3 + 3 588 c.339C>T c.(337-339)aaC>aaT p.N113N RPL13_ENST00000567815.1_Silent_p.N113N|RPL13_ENST00000452368.3_Intron|RPL13_ENST00000311528.5_Silent_p.N113N NM_033251.2 NP_150254.1 P26373 RL13_HUMAN ribosomal protein L13 113 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic ribosome protein binding|RNA binding|structural constituent of ribosome lung(3)|skin(1)|upper_aerodigestive_tract(2) 6 all_hematologic(23;0.0748) all cancers(4;1.15e-07)|OV - Ovarian serous cystadenocarcinoma(4;7.8e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0139) TGCAGGCCAACGTGCAGCGGC 0.617000 16 32 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37508672 37508672 + Silent SNP T T C TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr10:37508672T>C ENST00000374660.1 + 40 4320 c.4221T>C c.(4219-4221)gcT>gcC p.A1407A ANKRD30A_ENST00000602533.1_Silent_p.A1288A|ANKRD30A_ENST00000361713.1_Silent_p.A1288A Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 1344 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 ATAAGAAAGCTGACAACAAAA 0.318000 6 27 0 0 1 0 0 GAGE1 2543 broad.mit.edu 37 X 49369626 49369626 + Missense_Mutation SNP G G C TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chrX:49369626G>C ENST00000381709.2 + 5 468 c.357G>C c.(355-357)caG>caC p.Q119H GAGE1_ENST00000381700.6_Intron Q13065 GAGE1_HUMAN G antigen 1 119 cellular defense response Ovarian(276;0.236) atgttgcccagactggGATTC 0.408000 5 52 0 0 1 0 0 OR4C13 283092 broad.mit.edu 37 11 49974388 49974388 + Silent SNP T T A TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr11:49974388T>A ENST00000555099.1 + 1 446 c.414T>A c.(412-414)gtT>gtA p.V138V NM_001001955.2 NP_001001955.2 Q8NGP0 OR4CD_HUMAN olfactory receptor, family 4, subfamily C, member 13 138 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 43 AGCAGCATGTTTGTAGCCTGC 0.473000 9 124 0 0 1 0 0 ADARB1 104 broad.mit.edu 37 21 46642091 46642091 + Silent SNP C C T TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr21:46642091C>T ENST00000539173.1 + 12 2640 c.2205C>T c.(2203-2205)gaC>gaT p.D735D ADARB1_ENST00000348831.4_Silent_p.D695D|ADARB1_ENST00000437626.1_3'UTR|ADARB1_ENST00000360697.3_Silent_p.D735D|ADARB1_ENST00000389863.4_Intron NM_015833.3 NP_056648.1 P78563 RED1_HUMAN adenosine deaminase, RNA-specific, B1 735 A to I editase. adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing nucleoplasm|nucleus double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1) 17 Colorectal(79;0.115) CCGAGCAGGACCAGTTCTCAC 0.652000 5 64 0 0 1 0 0 PLCZ1 89869 broad.mit.edu 37 12 18858159 18858159 + Nonsense_Mutation SNP C C A TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr12:18858159C>A ENST00000266505.7 - 7 1068 c.805G>T c.(805-807)Gga>Tga p.G269* PLCZ1_ENST00000541695.1_Nonsense_Mutation_p.G132*|PLCZ1_ENST00000538330.1_Nonsense_Mutation_p.G10*|PLCZ1_ENST00000539875.1_Nonsense_Mutation_p.G76*|PLCZ1_ENST00000542762.1_5'UTR|PLCZ1_ENST00000447925.2_Nonsense_Mutation_p.G267*|PLCZ1_ENST00000435379.1_Nonsense_Mutation_p.G74* Q86YW0 PLCZ1_HUMAN phospholipase C, zeta 1 269 PI-PLC X-box. intracellular signal transduction|lipid catabolic process|multicellular organismal development nucleus|perinuclear region of cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) AAGGACTCTCCAAAAGTAGCC 0.398000 23 121 3.08376e-08 3.41895e-08 1 1 0 DNAH7 56171 broad.mit.edu 37 2 196737106 196737106 + Silent SNP G G C TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr2:196737106G>C ENST00000312428.6 - 40 6601 c.6501C>G c.(6499-6501)ctC>ctG p.L2167L NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2167 AAA 3 (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 GAGTAGGCAAGAGATTCTTCA 0.358000 7 143 0 0 1 0 0 RASGRP2 10235 broad.mit.edu 37 11 64496353 64496353 + Nonsense_Mutation SNP G G A TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr11:64496353G>A ENST00000377494.1 - 14 2675 c.1753C>T c.(1753-1755)Cga>Tga p.R585* RASGRP2_ENST00000377497.3_Nonsense_Mutation_p.R585*|RASGRP2_ENST00000394432.3_Nonsense_Mutation_p.R585*|RASGRP2_ENST00000354024.3_Nonsense_Mutation_p.R585* Q7LDG7 GRP2_HUMAN RAS guanyl releasing protein 2 (calcium and DAG-regulated) 585 platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction cell junction|cytosol|ruffle membrane|synapse|synaptosome calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 CTGGAGCCTCGCCTGCCAGGG 0.632000 23 29 0 0 1 0 0 ALPP 250 broad.mit.edu 37 2 233245021 233245021 + Silent SNP G G A TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr2:233245021G>A ENST00000392027.2 + 6 1052 c.783G>A c.(781-783)gcG>gcA p.A261A AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA NM_001632.3 NP_001623.3 P05187 PPB1_HUMAN alkaline phosphatase, placental 261 AK -> GE (in Ref. 6; AAA51706). anchored to membrane|cell surface|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2) 22 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;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) AATGGCTGGCGAAGCGCCAGG 0.652000 30 261 0 0 1 0 0 RAPGEFL1 51195 broad.mit.edu 37 17 38346893 38346893 + Splice_Site SNP T T C TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr17:38346893T>C ENST00000436615.3 + 8 1086 c.594_splice c.e8-1 p.V199_splice RAPGEFL1_ENST00000264644.6_Splice_Site_p.V199_splice|RAPGEFL1_ENST00000544503.1_Splice_Site_p.V248_splice|RAPGEFL1_ENST00000456989.2_Splice_Site_p.V254_splice|RAPGEFL1_ENST00000540388.1_3'UTR NM_016339.3 NP_057423.1 Q9UHV5 RPGFL_HUMAN Rap guanine nucleotide exchange factor (GEF)-like 1 405 G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction intracellular|membrane fraction guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1) 15 TGCCACCAGGTGCCCCTCCCC 0.642000 9 212 0 0 1 0 0 RNF113A 7737 broad.mit.edu 37 X 119005489 119005489 + Missense_Mutation SNP G G A TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chrX:119005489G>A ENST00000371442.2 - 1 302 c.88C>T c.(88-90)Cgc>Tgc p.R30C NDUFA1_ENST00000371437.4_5'UTR NM_006978.2 NP_008909.1 O15541 R113A_HUMAN ring finger protein 113A 30 nucleic acid binding|zinc ion binding NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6) 15 CGCTTTCTGCGTCCAGCAGCC 0.597000 43 264 0 0 1 0 0 SLC22A1 6580 broad.mit.edu 37 6 160560787 160560787 + Silent SNP G G A rs142714915 TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr6:160560787G>A ENST00000366963.4 + 7 1311 c.1164G>A c.(1162-1164)ccG>ccA p.P388P SLC22A1_ENST00000457470.2_Silent_p.P388P|SLC22A1_ENST00000324965.4_Silent_p.P388P NM_003057.2|NM_153187.1 NP_003048.1|NP_694857.1 O15245 S22A1_HUMAN solute carrier family 22 (organic cation transporter), member 1 388 basolateral plasma membrane|integral to plasma membrane|membrane fraction organic cation transmembrane transporter activity|protein binding SLC22A1/CUTA(2) breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1) 21 Breast(66;0.000776)|Ovarian(120;0.00556) OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06) TCGAAATCCCGGGGGCCTTCA 0.587000 10 72 0 0 1 0 0 RGAG1 57529 broad.mit.edu 37 X 109697785 109697785 + Missense_Mutation SNP G G A TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chrX:109697785G>A ENST00000465301.2 + 3 4186 c.3940G>A c.(3940-3942)Gag>Aag p.E1314K RGAG1_ENST00000540313.1_Missense_Mutation_p.E1314K NM_020769.2 NP_065820.1 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 1314 NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 GCTGGCTGAAGAGAAGGATTC 0.542000 18 125 0 0 1 0 0 GRM5 2915 broad.mit.edu 37 11 88300463 88300463 + Missense_Mutation SNP G G T TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr11:88300463G>T ENST00000418177.2 - 8 2755 c.2388C>A c.(2386-2388)aaC>aaA p.N796K GRM5_ENST00000455756.2_Missense_Mutation_p.N796K|GRM5_ENST00000305432.5_Missense_Mutation_p.N796K|GRM5_ENST00000393297.1_Missense_Mutation_p.N796K|GRM5_ENST00000305447.4_Missense_Mutation_p.N796K P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 796 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 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) TGATTTTGTAGTTGCTGCCAA 0.483000 26 171 3.01185e-09 3.35747e-09 1 1 0 SLC44A1 23446 broad.mit.edu 37 9 108126955 108126955 + Missense_Mutation SNP C C A TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr9:108126955C>A ENST00000374720.3 + 10 1454 c.1207C>A c.(1207-1209)Cag>Aag p.Q403K SLC44A1_ENST00000343170.7_Missense_Mutation_p.Q195K|SLC44A1_ENST00000374723.1_Missense_Mutation_p.Q403K|SLC44A1_ENST00000374724.1_Missense_Mutation_p.Q403K NM_080546.3 NP_536856.2 Q8WWI5 CTL1_HUMAN solute carrier family 44 (choline transporter), member 1 403 integral to membrane|mitochondrial outer membrane|plasma membrane choline transmembrane transporter activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 38 Choline(DB00122) TCTAGCATGTCAGCAGATGAC 0.438000 20 141 7.45023e-12 8.53846e-12 1 1 0 CRK 1398 broad.mit.edu 37 17 1359352 1359352 + Silent SNP C C A TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr17:1359352C>A ENST00000300574.2 - 1 200 c.60G>T c.(58-60)cgG>cgT p.R20R CRK_ENST00000574295.1_Silent_p.R20R|CRK_ENST00000398970.5_Silent_p.R20R|CRK_ENST00000572145.1_Intron NM_016823.3 NP_058431.2 P46108 CRK_HUMAN v-crk avian sarcoma virus CT10 oncogene homolog 20 SH2. actin cytoskeleton organization|activation of MAPKK activity|blood coagulation|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of transcription from RNA polymerase II promoter cytosol|endosome|nucleus|plasma membrane protein binding|SH2 domain binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2) 9 UCEC - Uterine corpus endometrioid carcinoma (25;0.083) CCGCCTCCTGCCGACTCAACC 0.701000 3 40 1 1 1 1 0 TRPM2 7226 broad.mit.edu 37 21 45860715 45860715 + Missense_Mutation SNP C C T TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr21:45860715C>T ENST00000397928.1 + 31 4758 c.4313C>T c.(4312-4314)gCc>gTc p.A1438V TRPM2_ENST00000397932.2_Missense_Mutation_p.A1488V|TRPM2_ENST00000300482.5_Missense_Mutation_p.A1438V|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.A1384V NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 1438 Nudix hydrolase. A -> S (in dbSNP:rs45578242). integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 ACGGACAATGCCTGGATCGAG 0.627000 12 163 0 0 1 0 0 KCNH4 23415 broad.mit.edu 37 17 40328187 40328187 + Missense_Mutation SNP G G C TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr17:40328187G>C ENST00000264661.3 - 5 1046 c.714C>G c.(712-714)ttC>ttG p.F238L KCNH4_ENST00000607371.1_Missense_Mutation_p.F238L NM_012285.2 NP_036417.1 Q9UQ05 KCNH4_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 4 238 regulation of transcription, DNA-dependent voltage-gated potassium channel complex two-component sensor activity|voltage-gated potassium channel activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1) 32 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) CCGCAACGTAGAAGGTGGCAA 0.607000 12 239 0 0 1 0 0 ASMTL 8623 broad.mit.edu 37 X 1536942 1536942 + Silent SNP G G A TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chrX:1536942G>A ENST00000534940.1 - 11 1497 c.1272C>T c.(1270-1272)gaC>gaT p.D424D ASMTL_ENST00000381317.3_Silent_p.D482D|ASMTL_ENST00000381333.4_Silent_p.D466D|ASMTL_ENST00000416733.2_Silent_p.D406D NM_001173473.1 NP_001166944.1 O95671 ASML_HUMAN acetylserotonin O-methyltransferase-like 482 ASMT-like. melatonin biosynthetic process cytoplasm acetylserotonin O-methyltransferase activity NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1) 23 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TGTCTGGGAGGTCAAACACAG 0.632000 6 98 0 0 1 0 0 AMOT 154796 broad.mit.edu 37 X 112058796 112058796 + Silent SNP C C T TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chrX:112058796C>T ENST00000371959.3 - 2 1181 c.1182G>A c.(1180-1182)caG>caA p.Q394Q AMOT_ENST00000304758.1_5'UTR|AMOT_ENST00000524145.1_Silent_p.Q394Q|AMOT_ENST00000371958.1_Silent_p.Q162Q|AMOT_ENST00000371962.1_Silent_p.Q162Q NM_001113490.1 NP_001106962.1 Q4VCS5 AMOT_HUMAN angiomotin 394 actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction angiostatin binding|protein binding|receptor activity p.Q394Q(1) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 43 gctgctgctgctgttgttggt 0.582000 4 76 0 0 1 0 0 DDX11 1663 broad.mit.edu 37 12 31254048 31254048 + Missense_Mutation SNP G G C TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr12:31254048G>C ENST00000407793.2 + 20 2287 c.2036G>C c.(2035-2037)aGa>aCa p.R679T DDX11_ENST00000545668.1_Missense_Mutation_p.R679T|DDX11_ENST00000350437.4_Missense_Mutation_p.R679T|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000542838.1_Missense_Mutation_p.R679T|DDX11_ENST00000228264.6_Missense_Mutation_p.R653T NM_030653.3|NM_152438.1 NP_085911.2|NP_689651.1 Q96FC9 DDX11_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 679 G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion midbody|nuclear chromatin|nucleolus|spindle pole ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 57 all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) TTCCAGAAAAGAGAGCTGCCT 0.617000 Multiple Myeloma(12;0.14) 6 133 0 0 1 0 0 ZNF813 126017 broad.mit.edu 37 19 53994554 53994554 + Silent SNP G G A TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr19:53994554G>A ENST00000396403.4 + 4 1196 c.1068G>A c.(1066-1068)aaG>aaA p.K356K ZNF813_ENST00000396421.4_Intron NM_001004301.3 NP_001004301.2 Q6ZN06 ZN813_HUMAN zinc finger protein 813 356 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1) 1 GBM - Glioblastoma multiforme(134;0.00619) AACCTTTCAAGTGTAATGAGT 0.418000 34 140 0 0 1 0 0 MTMR10 54893 broad.mit.edu 37 15 31234219 31234219 + Silent SNP G G A TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr15:31234219G>A ENST00000435680.1 - 16 1885 c.1788C>T c.(1786-1788)atC>atT p.I596I FAN1_ENST00000362065.4_3'UTR|MTMR10_ENST00000425768.1_3'UTR|MTMR10_ENST00000314404.8_Intron NM_017762.2 NP_060232.2 Q9NXD2 MTMRA_HUMAN myotubularin related protein 10 596 Myotubularin phosphatase. phosphatase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1) 9 all_lung(180;2.81e-11) all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174) CTTGGTCACTGATGATTCCAT 0.413000 11 186 0 0 1 0 0 CHD8 57680 broad.mit.edu 37 14 21897268 21897268 + Missense_Mutation SNP G G A TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr14:21897268G>A ENST00000399982.2 - 2 1134 c.1070C>T c.(1069-1071)cCa>cTa p.P357L CHD8_ENST00000430710.3_Missense_Mutation_p.P78L|CHD8_ENST00000557364.1_Missense_Mutation_p.P357L|CHD8_ENST00000555962.1_Intron NM_001170629.1 NP_001164100.1 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 357 Gln-rich. ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 85 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) CGATGATGGTGGTTGTGGTAC 0.562000 13 193 0 0 1 0 0 EGFR 1956 broad.mit.edu 37 7 55259515 55259515 + Missense_Mutation SNP T T G rs121434568 TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr7:55259515T>G ENST00000275493.2 + 21 2750 c.2573T>G c.(2572-2574)cTg>cGg p.L858R EGFR_ENST00000454757.2_Missense_Mutation_p.L805R|EGFR_ENST00000455089.1_Missense_Mutation_p.L813R|EGFR_ENST00000442591.1_Intron NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 858 Protein kinase. L -> M (found in a lung cancer sample).|L -> R (found in a lung cancer sample; somatic mutation; constitutively activated enzyme with strongly increased kinase activity). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.L858R(1489)|p.L858Q(1)|p.L858K(1) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) GATTTTGGGCTGGCCAAACTG 0.537000 L858R(NCIH1975_LUNG) 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 77 111 0 0 1 0 0 ACTRT3 84517 broad.mit.edu 37 3 169485232 169485232 + Silent SNP T T C TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr3:169485232T>C ENST00000330368.2 - 2 1481 c.1107A>G c.(1105-1107)caA>caG p.Q369Q NM_032487.4 NP_115876.3 Q9BYD9 ARPM1_HUMAN actin-related protein T3 369 cytoplasm|cytoskeleton AGAAGCATCTTTGGTGTACTA 0.378000 9 83 0 0 1 0 0 ZNF30 90075 broad.mit.edu 37 19 35434477 35434477 + Missense_Mutation SNP C C T TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr19:35434477C>T ENST00000439785.1 + 5 1054 c.610C>T c.(610-612)Cca>Tca p.P204S ZNF30_ENST00000303586.7_Missense_Mutation_p.P204S|ZNF30_ENST00000426813.2_Missense_Mutation_p.P122S|ZNF30_ENST00000601142.1_Missense_Mutation_p.P203S|ZNF30_ENST00000601957.1_3'UTR NM_001099438.1 NP_001092908.1 P17039 ZNF30_HUMAN zinc finger protein 30 203 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2) 16 all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) GBM - Glioblastoma multiforme(1328;0.0265) TGGTGAGAAGCCACTCAAATG 0.413000 11 47 0 0 1 0 0 MS4A1 931 broad.mit.edu 37 11 60233571 60233571 + Missense_Mutation SNP C C A TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr11:60233571C>A ENST00000534668.1 + 5 803 c.514C>A c.(514-516)Ccc>Acc p.P172T MS4A1_ENST00000532073.1_Missense_Mutation_p.P172T|MS4A1_ENST00000345732.4_Missense_Mutation_p.P172T|MS4A1_ENST00000389939.2_Missense_Mutation_p.P172T|MS4A1_ENST00000528313.1_Intron NM_152866.2 NP_690605.1 P11836 CD20_HUMAN membrane-spanning 4-domains, subfamily A, member 1 172 Epitope 3 (recognized by antibodies, including Rituximab). B cell activation|immune response integral to plasma membrane endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081) ACCAGCTAATCCCTCTGAGAA 0.348000 15 77 1.15088e-07 1.26908e-07 1 1 0 ESX1 80712 broad.mit.edu 37 X 103497486 103497486 + Missense_Mutation SNP T T A TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chrX:103497486T>A ENST00000372588.4 - 3 613 c.530A>T c.(529-531)aAt>aTt p.N177I NM_153448.3 NP_703149.1 Q8N693 ESX1_HUMAN ESX homeobox 1 177 negative regulation of transcription, DNA-dependent|regulation of cell cycle cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2) 27 TTCAGTCAAATTCAGGCGTGC 0.408000 34 326 0 0 1 0 0 TEX15 56154 broad.mit.edu 37 8 30695427 30695427 + Silent SNP G G A TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr8:30695427G>A ENST00000256246.2 - 3 7298 c.7224C>T c.(7222-7224)tgC>tgT p.C2408C NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 2408 p.C2408*(1) 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) ACTTTGATGCGCAAGTGTCTT 0.368000 6 170 0 0 1 0 0 TUBGCP2 10844 broad.mit.edu 37 10 135113555 135113555 + Missense_Mutation SNP T T A TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr10:135113555T>A ENST00000368563.2 - 3 569 c.213A>T c.(211-213)aaA>aaT p.K71N TUBGCP2_ENST00000417178.2_5'UTR|TUBGCP2_ENST00000252936.3_Missense_Mutation_p.K71N|TUBGCP2_ENST00000543663.1_Missense_Mutation_p.K71N|TUBGCP2_ENST00000470829.1_5'UTR NM_001256617.1|NM_006659.3 NP_001243546.1|NP_006650.1 Q9BSJ2 GCP2_HUMAN tubulin, gamma complex associated protein 2 71 G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly centrosome|cytoplasmic microtubule|cytosol|spindle pole protein binding breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 35 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05) TATTTTTAGATTTCAGTTCAT 0.433000 6 68 0 0 1 0 0 LRRN3 54674 broad.mit.edu 37 7 110762855 110762855 + Missense_Mutation SNP T T A TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr7:110762855T>A ENST00000451085.1 + 4 1073 c.27T>A c.(25-27)caT>caA p.H9Q IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000447215.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.H9Q|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000489381.1_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.H9Q|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000331762.3_Intron NM_001099660.1 NP_001093130.1 Q9H3W5 LRRN3_HUMAN leucine rich repeat neuronal 3 9 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 55 UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125) TCCGAATTCATGTGCTACTTG 0.428000 28 116 0 0 1 0 0 DARS2 55157 broad.mit.edu 37 1 173799835 173799835 + Missense_Mutation SNP C C T TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr1:173799835C>T ENST00000361951.4 + 4 1059 c.332C>T c.(331-333)cCt>cTt p.P111L DARS2_ENST00000239457.5_5'UTR NM_018122.4 NP_060592.2 Q6PI48 SYDM_HUMAN aspartyl-tRNA synthetase 2, mitochondrial 111 tRNA aminoacylation for protein translation mitochondrial matrix|nucleus aspartate-tRNA ligase activity|ATP binding|nucleic acid binding breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1) 30 L-Aspartic Acid(DB00128) TGTGAAGCCCCTGTGGAATCT 0.428000 10 117 0 0 1 0 0 GPR125 166647 broad.mit.edu 37 4 22390364 22390364 + Missense_Mutation SNP G G C TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr4:22390364G>C ENST00000334304.5 - 19 3199 c.2930C>G c.(2929-2931)tCt>tGt p.S977C GPR125_ENST00000282943.5_5'UTR NM_145290.2 NP_660333.2 Q8IWK6 GP125_HUMAN G protein-coupled receptor 125 977 neuropeptide signaling pathway integral to membrane G-protein coupled receptor activity breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 56 Breast(46;0.198) CAGAGACAAAGACATTGAATC 0.453000 4 69 0 0 1 0 0 MAN2A1 4124 broad.mit.edu 37 5 109153058 109153058 + Missense_Mutation SNP C C G TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr5:109153058C>G ENST00000261483.4 + 13 3080 c.2028C>G c.(2026-2028)ttC>ttG p.F676L NM_002372.2 NP_002363.2 Q16706 MA2A1_HUMAN mannosidase, alpha, class 2A, member 1 676 mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141) TGCAAGTGTTCTCTGCTTCAG 0.443000 19 131 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10404033 10404033 + Missense_Mutation SNP G G C TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr17:10404033G>C ENST00000226207.5 - 28 3869 c.3775C>G c.(3775-3777)Caa>Gaa p.Q1259E CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1259 muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 TCACTCAGTTGATCTTCTAGA 0.473000 5 135 0 0 1 0 0 CDC20B 166979 broad.mit.edu 37 5 54424357 54424357 + Missense_Mutation SNP A A T rs77495563 by1000genomes TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr5:54424357A>T ENST00000334206.5 - 7 962 c.786T>A c.(784-786)aaT>aaA p.N262K CDC20B_ENST00000381375.2_Missense_Mutation_p.N262K|CDC20B_ENST00000322374.6_Missense_Mutation_p.N262K|CDC20B_ENST00000296733.1_Missense_Mutation_p.N262K Q86Y33 CD20B_HUMAN cell division cycle 20B 262 kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 19 Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194) LUSC - Lung squamous cell carcinoma(15;0.225) TTTCAATCCCATTGTGGTTCT 0.438000 17 69 0 0 1 0 0 SLC35F3 148641 broad.mit.edu 37 1 234367481 234367481 + Missense_Mutation SNP G G T TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr1:234367481G>T ENST00000366618.3 + 3 747 c.602G>T c.(601-603)cGa>cTa p.R201L SLC35F3_ENST00000366617.3_Missense_Mutation_p.R132L NM_173508.2 NP_775779.1 Q8IY50 S35F3_HUMAN solute carrier family 35, member F3 132 transport integral to membrane breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1) 32 Ovarian(103;0.0454) all_cancers(173;0.145)|Prostate(94;0.0885) OV - Ovarian serous cystadenocarcinoma(106;0.00531) GTGAAGCAGCGATACAGGTAG 0.597000 20 110 5.35267e-07 5.83927e-07 1 1 0 HR 55806 broad.mit.edu 37 8 21977320 21977320 + Missense_Mutation SNP G G A TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr8:21977320G>A ENST00000381418.4 - 14 4410 c.2930C>T c.(2929-2931)cCg>cTg p.P977L HR_ENST00000312841.8_Missense_Mutation_p.P977L NM_005144.4 NP_005135.2 O43593 HAIR_HUMAN hair growth associated 977 JmjC. DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 27 Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116) KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) GGCAAGGCCCGGTGGGAGGTA 0.627000 4 58 0 0 1 0 0 LRGUK 136332 broad.mit.edu 37 7 133876489 133876489 + Missense_Mutation SNP G G A TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr7:133876489G>A ENST00000285928.2 + 12 1486 c.1417G>A c.(1417-1419)Gaa>Aaa p.E473K NM_144648.1 NP_653249.1 Q96M69 LRGUK_HUMAN leucine-rich repeats and guanylate kinase domain containing 473 Guanylate kinase-like. ATP binding|kinase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 49 CGTTTTTGATGAAATGGTGAA 0.343000 22 60 0 0 1 0 0 FAM9B 171483 broad.mit.edu 37 X 9001087 9001087 + Nonsense_Mutation SNP G G A TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chrX:9001087G>A ENST00000362066.3 - 1 264 c.76C>T c.(76-78)Caa>Taa p.Q26* FAM9B_ENST00000428477.1_5'UTR|FAM9B_ENST00000327220.5_5'UTR Q8IZU0 FAM9B_HUMAN family with sequence similarity 9, member B 0 nucleus breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1) 11 Hepatocellular(5;0.219) GTGGCTGGTTGTCCTGGGAAG 0.572000 7 61 0 0 1 0 0 SOCS5 9655 broad.mit.edu 37 2 46986247 46986247 + Missense_Mutation SNP C C T TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr2:46986247C>T ENST00000306503.5 + 2 750 c.578C>T c.(577-579)aCt>aTt p.T193I SOCS5_ENST00000394861.2_Missense_Mutation_p.T193I NM_014011.4 NP_054730.1 O75159 SOCS5_HUMAN suppressor of cytokine signaling 5 193 cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2) 22 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) LUSC - Lung squamous cell carcinoma(58;0.114) CCCATGAGAACTTACAGCAAG 0.433000 5 125 0 0 1 0 0 GPR78 27201 broad.mit.edu 37 4 8584262 8584262 + Missense_Mutation SNP C C T TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr4:8584262C>T ENST00000382487.4 + 2 1090 c.673C>T c.(673-675)Cgg>Tgg p.R225W GPR78_ENST00000509216.1_3'UTR NM_080819.4 NP_543009.2 Q96P69 GPR78_HUMAN G protein-coupled receptor 78 225 activation of adenylate cyclase activity by G-protein signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 26 CCACAGTGTGCGGCAGCGCTG 0.632000 8 89 0 0 1 0 0 T 6862 broad.mit.edu 37 6 166571968 166571968 + Silent SNP C C A TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr6:166571968C>A ENST00000296946.2 - 9 1611 c.1143G>T c.(1141-1143)gcG>gcT p.A381A T_ENST00000366871.3_Silent_p.A323A NM_003181.3 NP_003172.1 O15178 BRAC_HUMAN T, brachyury homolog (mouse) 381 anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation nucleus sequence-specific DNA binding transcription factor activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 39 Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559) OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407) GTGTGTAGTGCGCGGGGGAGC 0.706000 Chordoma, Familial Clustering of 12 93 4.36969e-10 4.92496e-10 1 1 0 BRCA1 672 broad.mit.edu 37 17 41251869 41251869 + Missense_Mutation SNP G G C rs80357887 TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr17:41251869G>C ENST00000357654.3 - 7 588 c.470C>G c.(469-471)tCt>tGt p.S157C BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.S157C|BRCA1_ENST00000468300.1_Missense_Mutation_p.S157C|BRCA1_ENST00000493795.1_Missense_Mutation_p.S110C|BRCA1_ENST00000351666.3_Missense_Mutation_p.S157C|BRCA1_ENST00000346315.3_Missense_Mutation_p.S157C|BRCA1_ENST00000354071.3_Missense_Mutation_p.S157C|BRCA1_ENST00000352993.3_Missense_Mutation_p.S157C|BRCA1_ENST00000491747.2_Missense_Mutation_p.S157C|BRCA1_ENST00000309486.4_5'UTR|BRCA1_ENST00000586385.1_Intron NM_007294.3 NP_009225.1 P38398 BRCA1_HUMAN breast cancer 1, early onset 157 androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2) 120 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.126) TCCAAGGTTAGAGAGTTGGAC 0.433000 """D, Mis, N, F, S""" ovarian """breast, ovarian""" Homologous recombination Hereditary Breast-Ovarian Cancer, BRCA1 type TCGA Ovarian(2;0.000030) 7 196 0 0 1 0 0 STRBP 55342 broad.mit.edu 37 9 125920382 125920382 + Silent SNP G G C TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr9:125920382G>C ENST00000447404.2 - 10 1258 c.954C>G c.(952-954)gcC>gcG p.A318A STRBP_ENST00000348403.5_Silent_p.A318A|STRBP_ENST00000360998.3_Silent_p.A304A Q96SI9 STRBP_HUMAN spermatid perinuclear RNA binding protein 318 DZF. multicellular organismal development cytoplasm|nucleus DNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2) 26 TCTGGCCAAAGGCTGATAGTC 0.388000 32 101 0 0 1 0 0 NEK6 10783 broad.mit.edu 37 9 127113174 127113174 + Missense_Mutation SNP G G A TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr9:127113174G>A ENST00000373600.3 + 11 1207 c.992G>A c.(991-993)gGa>gAa p.G331E NEK6_ENST00000320246.5_Missense_Mutation_p.G297E|NEK6_ENST00000546191.1_Missense_Mutation_p.G297E|NEK6_ENST00000373603.1_Missense_Mutation_p.G297E|NEK6_ENST00000540326.1_Missense_Mutation_p.G315E|NEK6_ENST00000545174.1_Missense_Mutation_p.G297E|NEK6_ENST00000394199.2_Missense_Mutation_p.G331E|NEK6_ENST00000539416.1_Missense_Mutation_p.G322E NM_001145001.2 NP_001138473.1 Q9HC98 NEK6_HUMAN NIMA-related kinase 6 297 apoptosis|cell division|chromosome segregation|mitosis|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of mitotic metaphase/anaphase transition cytoplasm|nucleus ATP binding|kinesin binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity|signal transducer activity endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1) 15 CCTGACATCGGATACGTGCAC 0.542000 4 50 0 0 1 0 0 NPAS4 266743 broad.mit.edu 37 11 66190213 66190213 + Missense_Mutation SNP G G T TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr11:66190213G>T ENST00000311034.2 + 4 675 c.499G>T c.(499-501)Gtg>Ttg p.V167L NM_178864.3 NP_849195.2 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 167 transcription, DNA-dependent DNA binding|signal transducer activity breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3) 49 CAACAAACTCGTGCTTATTCG 0.562000 29 102 3.80469e-20 4.48646e-20 1 1 0 ANKRD36C 400986 broad.mit.edu 37 2 96593000 96593000 + Missense_Mutation SNP A A G rs111976783 TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr2:96593000A>G ENST00000456556.1 - 28 1985 c.1901T>C c.(1900-1902)aTa>aCa p.I634T ankyrin repeat domain 36C p.I634T(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TTCTGTGGCTATATTTGAAAC 0.338000 3 52 0 0 1 0 0 TSLP 85480 broad.mit.edu 37 5 110409232 110409232 + Missense_Mutation SNP G G C TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr5:110409232G>C ENST00000420978.2 + 4 1662 c.240G>C c.(238-240)caG>caC p.Q80H TSLP_ENST00000344895.3_Missense_Mutation_p.Q80H|TSLP_ENST00000379706.4_5'UTR Q969D9 TSLP_HUMAN thymic stromal lymphopoietin 80 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) CTGAAATCCAGAGCCTAACCT 0.493000 8 214 0 0 1 0 0 GUCA1A 2978 broad.mit.edu 37 6 42146546 42146546 + Missense_Mutation SNP C C T TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr6:42146546C>T ENST00000394237.1 + 5 1334 c.358C>T c.(358-360)Cgc>Tgc p.R120C GUCA1A_ENST00000541991.1_Missense_Mutation_p.R120C|GUCA1A_ENST00000053469.4_Missense_Mutation_p.R120C|GUCA1A_ENST00000372958.1_Missense_Mutation_p.R120C P43080 GUC1A_HUMAN guanylate cyclase activator 1A (retina) 120 EF-hand 3. signal transduction|visual perception membrane calcium ion binding|calcium sensitive guanylate cyclase activator activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3) 7 Colorectal(47;0.196) STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) CCAGGCCATTCGCGCCATTAA 0.582000 81 309 0 0 1 0 0 LHX3 8022 broad.mit.edu 37 9 139091560 139091560 + Missense_Mutation SNP C C T rs61735423 TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr9:139091560C>T ENST00000371746.3 - 3 551 c.433G>A c.(433-435)Gtg>Atg p.V145M LHX3_ENST00000371748.5_Missense_Mutation_p.V140M NM_014564.3 NP_055379.1 Q9UBR4 LHX3_HUMAN LIM homeobox 3 140 inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 8 Myeloproliferative disorder(178;0.0511) Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07) GCCTTGCACACGAGCCGGCTG 0.632000 6 62 0 0 1 0 0 STAT3 6774 broad.mit.edu 37 17 40485908 40485908 + Splice_Site SNP C C G rs113512148 TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr17:40485908C>G ENST00000264657.5 - 9 1269 c.e9+1 STAT3_ENST00000585517.1_Splice_Site|STAT3_ENST00000404395.3_Splice_Site|STAT3_ENST00000588969.1_Splice_Site|STAT3_ENST00000389272.3_Splice_Site NM_003150.3|NM_139276.2 NP_003141.2|NP_644805.1 P40763 STAT3_HUMAN signal transducer and activator of transcription 3 (acute-phase response factor) cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis cytosol|nucleus|plasma membrane calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135) BRCA - Breast invasive adenocarcinoma(366;0.139) TGCTAAATTACCTTTTCATTA 0.488000 Hyperimmunoglobulin E Recurrent Infection Syndrome 4 67 0 0 1 0 0 TAC1 6863 broad.mit.edu 37 7 97363588 97363588 + Silent SNP G G C TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr7:97363588G>C ENST00000319273.5 + 4 546 c.249G>C c.(247-249)ctG>ctC p.L83L TAC1_ENST00000350485.4_Silent_p.L83L|TAC1_ENST00000346867.4_Intron NM_003182.2 NP_003173.1 P20366 TKN1_HUMAN tachykinin, precursor 1 83 detection of abiotic stimulus|elevation of cytosolic calcium ion concentration|insemination|neuropeptide signaling pathway|synaptic transmission|tachykinin receptor signaling pathway extracellular space large_intestine(4)|lung(6)|urinary_tract(1) 11 all_cancers(62;3.95e-09)|all_epithelial(64;1.1e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0358)|all_lung(186;0.0384) Bacitracin(DB00626) AAGTGGCCCTGTTAAAGGCTC 0.343000 5 27 0 0 1 0 0 PPIG 9360 broad.mit.edu 37 2 170493719 170493719 + Missense_Mutation SNP A A T TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr2:170493719A>T ENST00000260970.3 + 14 2171 c.1951A>T c.(1951-1953)Agc>Tgc p.S651C PPIG_ENST00000409714.3_Missense_Mutation_p.S636C|PPIG_ENST00000448752.2_Missense_Mutation_p.S651C NM_004792.2 NP_004783.2 Q13427 PPIG_HUMAN peptidylprolyl isomerase G (cyclophilin G) 651 protein folding|RNA splicing nuclear matrix|nuclear speck cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1) 43 L-Proline(DB00172) AGAGAGTAAGAGCTCACACAG 0.388000 4 34 0 0 1 0 0 HLA-A 3105 broad.mit.edu 37 6 29910607 29910607 + Silent SNP G G C rs72555397 TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr6:29910607G>C ENST00000396634.1 + 4 488 c.147G>C c.(145-147)gtG>gtC p.V49V HLA-A_ENST00000376806.5_Silent_p.V49V|HLA-A_ENST00000376809.5_Silent_p.V49V|HLA-A_ENST00000376802.2_Silent_p.V49V P30443 1A01_HUMAN major histocompatibility complex, class I, A 49 Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity p.V49V(2) central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 TCATCGCCGTGGGCTACGTGG 0.692000 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) 5 89 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7669666 7669666 + Missense_Mutation SNP C C G TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr17:7669666C>G ENST00000572933.1 + 22 5002 c.3542C>G c.(3541-3543)tCt>tGt p.S1181C DNAH2_ENST00000389173.2_Missense_Mutation_p.S1181C Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 1181 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) GGATACATGTCTGCCTTAGAC 0.547000 9 48 0 0 1 0 0 HAO1 54363 broad.mit.edu 37 20 7915153 7915153 + Silent SNP G G A rs138052675 TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr20:7915153G>A ENST00000378789.3 - 2 318 c.267C>T c.(265-267)gaC>gaT p.D89D NM_017545.2 NP_060015.1 Q9UJM8 HAOX1_HUMAN hydroxyacid oxidase (glycolate oxidase) 1 89 FMN hydroxy acid dehydrogenase. cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process peroxisomal matrix FMN binding|glycolate oxidase activity|glyoxylate oxidase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 CAAGCTCGCCGTCCACATGAG 0.522000 21 114 0 0 1 0 0 ZNF587 84914 broad.mit.edu 37 19 58371061 58371061 + Missense_Mutation SNP G G C TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr19:58371061G>C ENST00000339656.5 + 3 1463 c.1281G>C c.(1279-1281)caG>caC p.Q427H ZNF814_ENST00000597832.1_Intron|ZNF587_ENST00000423137.1_Missense_Mutation_p.Q426H|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF587_ENST00000419854.1_Missense_Mutation_p.Q384H NM_001204817.1|NM_032828.3 NP_001191746.1|NP_116217.1 Q96SQ5 ZN587_HUMAN zinc finger protein 587 427 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1) 15 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264) CTGAACACCAGAGACTTCACA 0.453000 5 109 0 0 1 0 0 NEIL1 79661 broad.mit.edu 37 15 75641338 75641338 + Missense_Mutation SNP C C G TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr15:75641338C>G ENST00000564784.1 + 3 721 c.92C>G c.(91-93)tCt>tGt p.S31C NEIL1_ENST00000567959.1_Intron|NEIL1_ENST00000569035.1_Missense_Mutation_p.S31C|NEIL1_ENST00000355059.4_Missense_Mutation_p.S31C Q96FI4 NEIL1_HUMAN nei endonuclease VIII-like 1 (E. coli) 31 base-excision repair|negative regulation of nuclease activity|nucleotide-excision repair|response to oxidative stress cytoplasm|nucleus damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|protein C-terminus binding|zinc ion binding breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1) 13 GAGAAGTCCTCTGTCAGCCGC 0.647000 Base excision repair (BER), DNA glycosylases 7 69 0 0 1 0 0 PIGA 5277 broad.mit.edu 37 X 15339766 15339766 + Silent SNP G G C TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chrX:15339766G>C ENST00000333590.4 - 6 1401 c.1317C>G c.(1315-1317)ctC>ctG p.L439L PIGA_ENST00000542278.1_Silent_p.L205L|PIGA_ENST00000428964.1_Silent_p.L124L|PIGA_ENST00000482148.1_5'UTR NM_002641.3 NP_002632.1 P37287 PIGA_HUMAN phosphatidylinositol glycan anchor biosynthesis, class A 439 C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1) 10 Hepatocellular(33;0.183) TCAAGAAAATGAGGAAGAGGA 0.443000 7 278 0 0 1 0 0 MYH3 4621 broad.mit.edu 37 17 10550742 10550742 + Splice_Site SNP C C T TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr17:10550742C>T ENST00000583535.1 - 9 824 c.735_splice c.e9-1 p.G246_splice MYH3_ENST00000226209.7_Splice_Site_p.G246_splice NM_002470.3 NP_002461.2 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, embryonic 246 Myosin head-like. muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 GATGAACTTGCCCTGTATGGG 0.488000 9 101 0 0 1 0 0 BCR 613 broad.mit.edu 37 22 23603146 23603146 + Missense_Mutation SNP G G C TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr22:23603146G>C ENST00000305877.8 + 3 2222 c.1471G>C c.(1471-1473)Gac>Cac p.D491H BCR_ENST00000359540.3_Missense_Mutation_p.D491H NM_004327.3 NP_004318.3 P11274 BCR_HUMAN breakpoint cluster region 491 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 GAGTGAGCTGGACTTGGAAAA 0.562000 T """ABL1, FGFR1, JAK2 """ """CML, ALL, AML""" 6 68 0 0 1 0 0 LRRC8B 23507 broad.mit.edu 37 1 90049344 90049344 + Missense_Mutation SNP C C T TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr1:90049344C>T ENST00000330947.2 + 5 1495 c.1135C>T c.(1135-1137)Ctt>Ttt p.L379F LRRC8B_ENST00000358200.4_Missense_Mutation_p.L379F|LRRC8B_ENST00000439853.1_Missense_Mutation_p.L379F|RP5-1007M22.2_ENST00000443562.1_RNA NM_001134476.1 NP_001127948.1 Q6P9F7 LRC8B_HUMAN leucine rich repeat containing 8 family, member B 379 integral to membrane breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 26 all_lung(203;0.17) all cancers(265;0.00515)|Epithelial(280;0.0241) GTATGATCCTCTTTATTCCAA 0.398000 10 116 0 0 1 0 0 LRP12 29967 broad.mit.edu 37 8 105509462 105509462 + Missense_Mutation SNP G G T TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr8:105509462G>T ENST00000276654.5 - 5 1426 c.1318C>A c.(1318-1320)Cca>Aca p.P440T LRP12_ENST00000424843.2_Missense_Mutation_p.P421T NM_013437.4 NP_038465.1 Q9Y561 LRP12_HUMAN low density lipoprotein receptor-related protein 12 440 LDL-receptor class A 4. endocytosis|regulation of growth coated pit|integral to plasma membrane low-density lipoprotein receptor activity|protein binding NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229) GAGCCATTTGGGCAATGATTC 0.403000 5 100 5.18039e-06 5.5621e-06 1 1 0 SNHG14 104472715 broad.mit.edu 37 15 25307523 25307523 + RNA SNP T T G TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr15:25307523T>G ENST00000549804.2 + 0 397 SNORD116-5_ENST00000384462.1_RNA TTGGAAAAGCTGAACAAAATG 0.512000 21 135 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195492166 195492166 + Silent SNP G G A TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr3:195492166G>A ENST00000463781.3 - 9 14232 c.13773C>T c.(13771-13773)gaC>gaT p.D4591D MUC4_ENST00000346145.4_Silent_p.D355D|MUC4_ENST00000475231.1_Silent_p.D4539D|MUC4_ENST00000349607.4_Silent_p.D304D NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 1348 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GGAATCGTAAGTCCCGTCGTC 0.647000 6 74 0 0 1 0 0 MC2R 4158 broad.mit.edu 37 18 13885208 13885208 + Missense_Mutation SNP C C G TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr18:13885208C>G ENST00000327606.3 - 2 490 c.310G>C c.(310-312)Gac>Cac p.D104H NM_000529.2 NP_000520.1 Q01718 ACTHR_HUMAN melanocortin 2 receptor (adrenocorticotropic hormone) 104 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane corticotropin receptor activity|protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 Corticotropin(DB01285)|Cosyntropin(DB01284) TCGATGATGTCATCGGCTGTG 0.498000 4 72 0 0 1 0 0 OTOP2 92736 broad.mit.edu 37 17 72926824 72926824 + Missense_Mutation SNP G G A TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr17:72926824G>A ENST00000331427.4 + 6 1186 c.1094G>A c.(1093-1095)cGc>cAc p.R365H OTOP2_ENST00000580223.1_Missense_Mutation_p.R365H NM_178160.2 NP_835454.1 Q7RTS6 OTOP2_HUMAN otopetrin 2 365 integral to membrane breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2) 39 all_lung(278;0.172)|Lung NSC(278;0.207) AACCCCACGCGCACTCTGGAC 0.617000 4 96 0 0 1 0 0 HCCS 3052 broad.mit.edu 37 X 11139855 11139855 + Silent SNP C C T rs139955716 byFrequency TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chrX:11139855C>T ENST00000321143.4 + 7 934 c.732C>T c.(730-732)gaC>gaT p.D244D ARHGAP6_ENST00000534860.1_Intron|HCCS_ENST00000380762.4_Silent_p.D244D|HCCS_ENST00000380763.3_Silent_p.D244D NM_001122608.2|NM_001171991.2|NM_005333.4 NP_001116080.1|NP_001165462.1|NP_005324.3 P53701 CCHL_HUMAN holocytochrome c synthase 244 organ morphogenesis|oxidation-reduction process mitochondrial inner membrane holocytochrome-c synthase activity|metal ion binding kidney(1)|large_intestine(3)|lung(3) 7 CCATCCTGGACGTCCGTCCTG 0.448000 11 113 0 0 1 0 0 FSTL4 23105 broad.mit.edu 37 5 132534871 132534871 + Silent SNP G G A TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr5:132534871G>A ENST00000265342.7 - 16 2694 c.2445C>T c.(2443-2445)ctC>ctT p.L815L CTB-49A3.2_ENST00000509051.1_RNA NM_015082.1 NP_055897.1 Q6MZW2 FSTL4_HUMAN follistatin-like 4 815 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) TCCCATTGATGAGGAACAGTG 0.592000 24 43 0 0 1 0 0 OR2B11 127623 broad.mit.edu 37 1 247614656 247614656 + Missense_Mutation SNP A A C TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr1:247614656A>C ENST00000318749.6 - 1 652 c.629T>G c.(628-630)tTc>tGc p.F210C NM_001004492.1 NP_001004492.1 Q5JQS5 OR2BB_HUMAN olfactory receptor, family 2, subfamily B, member 11 210 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 60 all_cancers(71;4.51e-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) all_cancers(173;0.241) OV - Ovarian serous cystadenocarcinoma(106;0.0188) CACCAACACGAAGAAGGCCAC 0.567000 7 50 0 0 1 0 0 CTNND2 1501 broad.mit.edu 37 5 11111151 11111151 + Missense_Mutation SNP A A G TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr5:11111151A>G ENST00000304623.8 - 14 2471 c.2282T>C c.(2281-2283)gTt>gCt p.V761A CTNND2_ENST00000359640.2_Missense_Mutation_p.V761A|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Missense_Mutation_p.V328A|CTNND2_ENST00000511377.1_Missense_Mutation_p.V670A|CTNND2_ENST00000503622.1_Missense_Mutation_p.V424A NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 761 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 ACAGTTTTCAACGGTCTGCAG 0.522000 9 256 0 0 1 0 0 TRIM10 10107 broad.mit.edu 37 6 30128538 30128538 + Missense_Mutation SNP T T G TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr6:30128538T>G ENST00000449742.2 - 1 173 c.98A>C c.(97-99)cAc>cCc p.H33P TRIM10_ENST00000376704.3_Missense_Mutation_p.H33P NM_006778.3 NP_006769.2 Q9UDY6 TRI10_HUMAN tripartite motif containing 10 33 cytoplasm zinc ion binding ovary(1) 1 GCAGAAGTTGTGGCCGCAGTC 0.607000 6 142 0 0 1 0 0 MAP3K1 4214 broad.mit.edu 37 5 56168498 56168498 + Missense_Mutation SNP C C A TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr5:56168498C>A ENST00000399503.3 + 8 1454 c.1454C>A c.(1453-1455)cCt>cAt p.P485H NM_005921.1 NP_005912.1 Q13233 M3K1_HUMAN mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase 485 cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol ATP binding|zinc ion binding NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1) 57 Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223) OV - Ovarian serous cystadenocarcinoma(10;6.08e-40) AATAGAGAACCTTTAATATGT 0.269000 14 41 2.48551e-13 2.88093e-13 1 1 0 DMD 1756 broad.mit.edu 37 X 32407666 32407666 + Silent SNP T T C TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chrX:32407666T>C ENST00000357033.4 - 32 4676 c.4470A>G c.(4468-4470)acA>acG p.T1490T DMD_ENST00000378677.2_Silent_p.T1486T NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 1490 Interaction with SYNM (By similarity). muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) CCACACTCTTTGTTTCCAATG 0.403000 64 105 0 0 1 0 0 SPAST 6683 broad.mit.edu 37 2 32366999 32366999 + Missense_Mutation SNP C C G TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr2:32366999C>G ENST00000315285.3 + 13 1645 c.1520C>G c.(1519-1521)tCt>tGt p.S507C SPAST_ENST00000345662.1_Missense_Mutation_p.S475C NM_014946.3 NP_055761.2 Q9UBP0 SPAST_HUMAN spastin 507 Sufficient for microtubule severing. cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) GTATATGTGTCTTTACCAAAT 0.313000 4 25 0 0 1 0 0 NIFK 84365 broad.mit.edu 37 2 122494355 122494355 + Missense_Mutation SNP C C G TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr2:122494355C>G ENST00000285814.4 - 1 144 c.72G>C c.(70-72)aaG>aaC p.K24N NM_032390.4 NP_115766.3 Q9BYG3 MK67I_HUMAN 24 protein complex assembly|rRNA metabolic process|rRNA transcription condensed nuclear chromosome|cytoplasm|nucleolus|nucleoplasm nucleotide binding|protein binding|RNA binding endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1) 12 GCGCCACCTCCTTTTGAAACT 0.627000 12 112 0 0 1 0 0 PHRF1 57661 broad.mit.edu 37 11 591448 591448 + Missense_Mutation SNP G G T TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr11:591448G>T ENST00000264555.5 + 5 613 c.485G>T c.(484-486)gGt>gTt p.G162V PHRF1_ENST00000533464.1_Missense_Mutation_p.G158V|PHRF1_ENST00000416188.2_Missense_Mutation_p.G162V|PHRF1_ENST00000413872.2_Missense_Mutation_p.G161V NM_020901.2 NP_065952.2 Q9P1Y6 PHRF1_HUMAN PHD and ring finger domains 1 162 RNA polymerase binding|zinc ion binding breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2) 28 GCTCAATTTGGTGGTAAAATC 0.468000 3 21 6.4e-05 6.8e-05 1 1 0 UNC45B 146862 broad.mit.edu 37 17 33491145 33491145 + Missense_Mutation SNP G G A TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr17:33491145G>A ENST00000268876.5 + 9 1208 c.1111G>A c.(1111-1113)Gag>Aag p.E371K UNC45B_ENST00000433649.1_Missense_Mutation_p.E371K|UNC45B_ENST00000394570.2_Missense_Mutation_p.E371K|UNC45B_ENST00000591048.1_Missense_Mutation_p.E371K|UNC45B_ENST00000378449.1_Missense_Mutation_p.E371K NM_173167.2 NP_775259.1 Q8IWX7 UN45B_HUMAN unc-45 homolog B (C. elegans) 371 cell differentiation|muscle organ development cytosol binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3) 59 Ovarian(249;0.17) CTGTGACCCGGAGCGCGATCA 0.537000 14 360 0 0 1 0 0 GPRASP2 114928 broad.mit.edu 37 X 101970548 101970548 + Missense_Mutation SNP G G C TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chrX:101970548G>C ENST00000543253.1 + 5 1670 c.751G>C c.(751-753)Gag>Cag p.E251Q GPRASP2_ENST00000535209.1_Missense_Mutation_p.E251Q|GPRASP2_ENST00000332262.5_Missense_Mutation_p.E251Q NM_001004051.3|NM_001184874.2|NM_001184876.2 NP_001004051.1|NP_001171803.1|NP_001171805.1 G protein-coupled receptor associated sorting protein 2 breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 30 GCCCAGGGAAGAGTCCAATAC 0.522000 10 261 0 0 1 0 0 MEG8 79104 broad.mit.edu 37 14 101364294 101364294 + RNA SNP C C G TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr14:101364294C>G ENST00000458974.1 + 0 38 NR_003080.1 aacaaaagatcatgattaatc 0.333000 13 80 0 0 1 0 0 ZNF334 55713 broad.mit.edu 37 20 45130930 45130930 + Missense_Mutation SNP C C T TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr20:45130930C>T ENST00000457685.2 - 6 2257 c.934G>A c.(934-936)Gaa>Aaa p.E312K ZNF334_ENST00000347606.4_Missense_Mutation_p.E350K|ZNF334_ENST00000593880.1_Missense_Mutation_p.E373K Q9HCZ1 ZN334_HUMAN zinc finger protein 334 350 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0122) TCCTTGCATTCGTAAGGCTTC 0.438000 24 206 0 0 1 0 0 ADAM30 11085 broad.mit.edu 37 1 120437940 120437940 + Silent SNP C C G TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr1:120437940C>G ENST00000369400.1 - 1 1178 c.1020G>C c.(1018-1020)ctG>ctC p.L340L NM_021794.3 NP_068566.2 Q9UKF2 ADA30_HUMAN ADAM metallopeptidase domain 30 340 Peptidase M12B. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2) 38 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138) Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117) CAGCATGACCCAGCTCATGAG 0.458000 36 139 0 0 1 0 0 XCL1 6375 broad.mit.edu 37 1 168550291 168550291 + Splice_Site SNP T T C TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr1:168550291T>C ENST00000367818.3 + 3 343 c.176_splice c.e3-1 p.F60_splice NM_002995.2 NP_002986.1 P47992 XCL1_HUMAN chemokine (C motif) ligand 1 60 CD4-positive, alpha-beta T cell proliferation|CD8-positive, alpha-beta T cell proliferation|cell-cell signaling|cellular response to interleukin-4|cellular response to transforming growth factor beta stimulus|immunoglobulin production in mucosal tissue|lymphocyte chemotaxis|negative regulation of interferon-gamma production|negative regulation of interleukin-2 production|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell cytokine production|negative regulation of T-helper 1 cell activation|negative regulation of transcription, DNA-dependent|neutrophil chemotaxis|positive regulation of activated T cell proliferation|positive regulation of B cell chemotaxis|positive regulation of granzyme A production|positive regulation of granzyme B production|positive regulation of interleukin-10 production|positive regulation of natural killer cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell chemotaxis|positive regulation of T cell cytokine production|positive regulation of T cell mediated cytotoxicity|positive regulation of thymocyte migration|positive regulation of transforming growth factor-beta production|regulation of inflammatory response|release of sequestered calcium ion into cytosol|response to virus|T-helper 1 cell cytokine production|T-helper 2 cell cytokine production extracellular space chemokine activity|protein homodimerization activity kidney(2)|lung(7)|upper_aerodigestive_tract(1) 10 all_hematologic(923;0.208) GCGTTACAGTTTTATTACCAA 0.463000 3 65 0 0 1 0 0 SCN4A 6329 broad.mit.edu 37 17 62026871 62026871 + Silent SNP G G A TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr17:62026871G>A ENST00000435607.1 - 15 2947 c.2871C>T c.(2869-2871)ctC>ctT p.L957L SCN4A_ENST00000578147.1_Silent_p.L957L NM_000334.4 NP_000325.4 P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 957 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity 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) TCCCATCATAGAGAGGCTGCG 0.642000 5 28 0 0 1 0 0 ALDH1A2 8854 broad.mit.edu 37 15 58306388 58306388 + Missense_Mutation SNP T T C TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr15:58306388T>C ENST00000249750.4 - 2 976 c.209A>G c.(208-210)cAa>cGa p.Q70R ALDH1A2_ENST00000558231.1_Missense_Mutation_p.Q41R|ALDH1A2_ENST00000537372.1_Missense_Mutation_p.Q49R|ALDH1A2_ENST00000347587.3_Missense_Mutation_p.Q70R NM_003888.3 NP_003879.2 O94788 AL1A2_HUMAN aldehyde dehydrogenase 1 family, member A2 70 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) GTCTGCTTCTTGAACTTCACA 0.423000 16 74 0 0 1 0 0 CD177 57126 broad.mit.edu 37 19 43858418 43858418 + RNA SNP C C A TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr19:43858418C>A ENST00000378009.4 + 0 295 CD177_ENST00000607517.1_RNA|CD177_ENST00000378012.2_RNA NM_020406.2 NP_065139.2 Q8N6Q3 CD177_HUMAN CD177 molecule blood coagulation|leukocyte migration anchored to membrane|plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 5 Prostate(69;0.00682) CCAGGAGCCCCGCGTCACTGA 0.647000 7 78 0.0293803 0.0301185 1 1 0 XIRP2 129446 broad.mit.edu 37 2 168106970 168106970 + Missense_Mutation SNP T T A TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr2:168106970T>A ENST00000409195.1 + 9 9157 c.9068T>A c.(9067-9069)cTt>cAt p.L3023H XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.L2801H|XIRP2_ENST00000295237.9_Missense_Mutation_p.L3023H NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2848 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 GAAGATATGCTTGTGTCCTAT 0.343000 15 110 0 0 1 0 0 TKTL2 84076 broad.mit.edu 37 4 164394734 164394734 + Silent SNP G G C TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr4:164394734G>C ENST00000280605.3 - 1 313 c.153C>G c.(151-153)gtC>gtG p.V51V NM_032136.4 NP_115512.3 Q9H0I9 TKTL2_HUMAN transketolase-like 2 51 cytoplasm metal ion binding|transketolase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 70 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) GGAAGAAGAGGACAGACACGA 0.577000 6 33 0 0 1 0 0 NCOR1 9611 broad.mit.edu 37 17 15967384 15967384 + Missense_Mutation SNP G G A TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr17:15967384G>A ENST00000268712.3 - 35 5476 c.5219C>T c.(5218-5220)cCa>cTa p.P1740L NCOR1_ENST00000395857.3_Missense_Mutation_p.P324L|NCOR1_ENST00000395851.1_Missense_Mutation_p.P1756L NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 1740 Interaction with C1D (By similarity).|Interaction with ETO. cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) TCACTGACCTGGCCGCAGGTA 0.537000 10 138 0 0 1 0 0 FBLN7 129804 broad.mit.edu 37 2 112944954 112944954 + Missense_Mutation SNP C C G TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr2:112944954C>G ENST00000331203.2 + 8 1462 c.1191C>G c.(1189-1191)atC>atG p.I397M FBLN7_ENST00000409667.3_Missense_Mutation_p.I263M|FBLN7_ENST00000409903.1_Intron|FBLN7_ENST00000409450.3_Missense_Mutation_p.I351M NM_001128165.1|NM_153214.2 NP_001121637.1|NP_694946.2 Q53RD9 FBLN7_HUMAN fibulin 7 397 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 GGGATCTGATCCTTGTGCAGA 0.627000 16 124 0 0 1 0 0 FOXN1 8456 broad.mit.edu 37 17 26851533 26851533 + Missense_Mutation SNP T T G TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr17:26851533T>G ENST00000226247.2 + 2 165 c.136T>G c.(136-138)Ttc>Gtc p.F46V FOXN1_ENST00000579795.1_Missense_Mutation_p.F46V NM_003593.2 NP_003584.2 O15353 FOXN1_HUMAN forkhead box N1 46 defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Lung NSC(42;0.00431) GCATGCCGGCTTCAGCTGCTC 0.627000 36 150 0 0 1 0 0 DDX17 10521 broad.mit.edu 37 22 38883889 38883889 + Missense_Mutation SNP C C T TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr22:38883889C>T ENST00000396821.3 - 12 1778 c.1679G>A c.(1678-1680)gGc>gAc p.G560D DDX17_ENST00000444597.1_Missense_Mutation_p.G12D|DDX17_ENST00000381633.3_Missense_Mutation_p.G483D NM_001098504.1|NM_006386.4 NP_001091974.1|NP_006377.2 Q92841 DDX17_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 17 481 RNA processing nucleus ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 25 Melanoma(58;0.0286) CTTACCCCCGCCTCCGCCGCC 0.493000 21 80 0 0 1 0 0 KPNA3 3839 broad.mit.edu 37 13 50285092 50285092 + Missense_Mutation SNP C C G TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr13:50285092C>G ENST00000261667.3 - 11 1252 c.838G>C c.(838-840)Gtt>Ctt p.V280L NM_002267.3 NP_002258.2 O00505 IMA3_HUMAN karyopherin alpha 3 (importin alpha 4) 280 interspecies interaction between organisms|NLS-bearing substrate import into nucleus|protein complex assembly cytoplasm|nuclear pore nuclear localization sequence binding|protein transporter activity cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(4) 21 Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;1.42e-09) GAATCAATAACCATCTGTATC 0.363000 4 62 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 104067701 104067701 + Silent SNP C C T rs149461913 TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr12:104067701C>T ENST00000388887.2 + 23 2592 c.2388C>T c.(2386-2388)caC>caT p.H796H NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 796 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 p.H796Q(1) 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 TGTGCGTTCACGGAACATGCA 0.592000 4 43 0 0 1 0 0 PKD1 5310 broad.mit.edu 37 16 2143934 2143934 + Missense_Mutation SNP C C A TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr16:2143934C>A ENST00000262304.4 - 36 10907 c.10699G>T c.(10699-10701)Gct>Tct p.A3567S RP11-304L19.1_ENST00000570072.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.A3566S NM_001009944.2 NP_001009944.2 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) 3567 calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 ACAGCCACAGCCACCAGGAGC 0.687000 6 14 0.217242 0.220485 1 1 0 WDR83 84292 broad.mit.edu 37 19 12780997 12780997 + Silent SNP C C T TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr19:12780997C>T ENST00000418543.3 + 5 577 c.228C>T c.(226-228)tcC>tcT p.S76S WDR83OS_ENST00000600694.1_5'UTR|WDR83_ENST00000242796.4_Silent_p.S76S|WDR83OS_ENST00000596731.1_5'UTR NM_001099737.2 NP_001093207.1 Q9BRX9 WDR83_HUMAN WD repeat domain 83 76 nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|cytoplasm breast(2)|large_intestine(1)|lung(1) 4 ACTCCAGCTCCTTTGACAACA 0.652000 9 164 0 0 1 0 0 MTNR1A 4543 broad.mit.edu 37 4 187455380 187455380 + Silent SNP C C T TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr4:187455380C>T ENST00000307161.5 - 2 717 c.516G>A c.(514-516)ccG>ccA p.P172P RP11-215A19.2_ENST00000509111.1_Intron NM_005958.3 NP_005949.1 P48039 MTR1A_HUMAN melatonin receptor 1A 172 circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior integral to plasma membrane melatonin receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 14 all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159) Melatonin(DB01065)|Ramelteon(DB00980) AGTAGATCCTCGGGTCGTACT 0.597000 8 140 0 0 1 0 0 SLC7A4 6545 broad.mit.edu 37 22 21384420 21384420 + Silent SNP G G C TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr22:21384420G>C ENST00000382932.2 - 3 1270 c.1203C>G c.(1201-1203)gcC>gcG p.A401A SLC7A4_ENST00000403586.1_Silent_p.A401A NM_004173.2 NP_004164.2 O43246 CTR4_HUMAN solute carrier family 7, member 4 401 cellular amino acid metabolic process integral to membrane basic amino acid transmembrane transporter activity breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2) 18 all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) CGAATGTGTAGGCCAGGAGTG 0.657000 9 40 0 0 1 0 0 SH2D4B 387694 broad.mit.edu 37 10 82363419 82363419 + Missense_Mutation SNP C C G TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr10:82363419C>G ENST00000339284.2 + 5 1158 c.728C>G c.(727-729)gCt>gGt p.A243G SH2D4B_ENST00000470604.2_Missense_Mutation_p.A242G|SH2D4B_ENST00000313455.4_Missense_Mutation_p.A194G NM_207372.2 NP_997255.2 Q5SQS7 SH24B_HUMAN SH2 domain containing 4B 242 endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6) 13 Colorectal(32;0.229) TCGCTCCGTGCTATCCAGAAG 0.667000 6 13 0 0 1 0 0 FAM46D 169966 broad.mit.edu 37 X 79698669 79698669 + Missense_Mutation SNP T T G TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chrX:79698669T>G ENST00000538312.1 + 5 965 c.631T>G c.(631-633)Ttc>Gtc p.F211V FAM46D_ENST00000308293.5_Missense_Mutation_p.F211V NM_001170574.1 NP_001164045.1 Q8NEK8 FA46D_HUMAN family with sequence similarity 46, member D 211 kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23 GTATGGAGACTTCCAGGAAGC 0.433000 19 114 0 0 1 0 0 POU3F4 5456 broad.mit.edu 37 X 82763778 82763778 + Missense_Mutation SNP G G C TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chrX:82763778G>C ENST00000373200.2 + 1 510 c.446G>C c.(445-447)gGa>gCa p.G149A RP3-326L13.2_ENST00000607095.1_RNA NM_000307.3 NP_000298.2 P49335 PO3F4_HUMAN POU class 3 homeobox 4 149 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 GAACACGGGGGACTCACCCCA 0.672000 3 32 0 0 1 0 0 CDK5 1020 broad.mit.edu 37 7 150754062 150754062 + Splice_Site SNP C C T TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr7:150754062C>T ENST00000485972.1 - 3 808 c.126_splice c.e3-1 p.G43_splice CDK5_ENST00000297518.4_Splice_Site_p.G43_splice NM_004935.3 NP_004926.1 Q00535 CDK5_HUMAN cyclin-dependent kinase 5 43 Protein kinase. activation of pro-apoptotic gene products|blood coagulation|cell division|cell proliferation|embryo development|negative regulation of transcription, DNA-dependent|positive regulation of neuron apoptosis axon|cytosol|dendrite|growth cone|lamellipodium|membrane|neuromuscular junction|neuronal cell body acetylcholine receptor activator activity|ATP binding|cyclin-dependent protein kinase activity|ErbB-2 class receptor binding|ErbB-3 class receptor binding|tau-protein kinase activity central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1) 9 Breast(660;0.159)|Ovarian(593;0.182) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242) CTCGGCACACCCTGCATATGT 0.647000 18 57 0 0 1 0 0 LCE2D 353141 broad.mit.edu 37 1 152636666 152636666 + Frame_Shift_Del DEL C C - TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr1:152636666delC ENST00000368784.1 + 2 140 c.85delC c.(85-87)ccfs p.P30fs NM_178430.2 NP_848517.1 Q5TA82 LCE2D_HUMAN late cornified envelope 2D 30 Cys-rich. keratinization large_intestine(1)|lung(7)|prostate(2) 10 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) ACCTAAGTGTCCCCCCAAATG 0.597 7 561 --- --- --- --- LRP5 4041 broad.mit.edu 37 11 68201243 68201250 + Frame_Shift_Del DEL CTGCGCCT CTGCGCCT - rs151200211 TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr11:68201243_68201250delCTGCGCCT ENST00000294304.7 + 18 4043_4050 c.3937_3944delCTGCGCCT c.(3937-3945)gfs p.LRL1313fs NM_002335.2 NP_002326.2 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 5 1313 LDL-receptor class A 2. adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 GTGTGTGGACCTGCGCCTGCGCTGCGAC 0.702 8 166 --- --- --- --- PUS7L 83448 broad.mit.edu 37 12 44148332 44148335 + Frame_Shift_Del DEL TTTG TTTG - rs150364500 TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr12:44148332_44148335delTTTG ENST00000416848.2 - 2 1202_1205 c.714_717delCAAA c.(712-717)aafs p.NK238fs PUS7L_ENST00000431332.3_Intron|PUS7L_ENST00000344862.5_Frame_Shift_Del_p.NK238fs|PUS7L_ENST00000553166.1_Frame_Shift_Del_p.NK238fs|PUS7L_ENST00000551923.1_Frame_Shift_Del_p.NK238fs NM_001098615.1|NM_001271826.1 NP_001092085.1|NP_001258755.1 Q9H0K6 PUS7L_HUMAN pseudouridylate synthase 7 homolog (S. cerevisiae)-like 238 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 all_cancers(12;0.00027) Lung NSC(34;0.114)|all_lung(34;0.24) GBM - Glioblastoma multiforme(48;0.0402) TTCTGTGGTCTTTGTTTGTATCAG 0.328 8 65 --- --- --- --- ATP12A 479 broad.mit.edu 37 13 25262564 25262564 + Frame_Shift_Del DEL G G - TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr13:25262564delG ENST00000218548.6 + 4 669 c.336delG c.(334-336)gtfs p.V112fs ATP12A_ENST00000381946.3_Frame_Shift_Del_p.V112fs NM_001185085.1|NM_001676.5 NP_001172014.1|NP_001667.4 P54707 AT12A_HUMAN ATPase, H+/K+ transporting, nongastric, alpha polypeptide 112 ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding p.V112V(1) breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5) 74 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) AGCAGATGGTGGGGGGGTTCT 0.587 8 438 --- --- --- --- TPTE2P1 646405 broad.mit.edu 37 13 25527490 25527491 + RNA INS - - AAAAAG TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr13:25527490_25527491insAAAAAG ENST00000429698.1 - 0 282 AGGAAGGTTCTAAAAAAAATTT 0.252 7 3 --- --- --- --- LOC101929735 101929735 broad.mit.edu 37 14 22892202 22892202 + RNA DEL A A - TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr14:22892202delA ENST00000514473.2 - 0 225 AE000661.37_ENST00000537850.1_RNA|AE000661.37_ENST00000545670.1_RNA|AE000661.37_ENST00000535351.1_RNA|AE000661.37_ENST00000541008.1_RNA ctaaaaatacaaaaaaaaaaa 0.547 3 4 --- --- --- --- HERC2P2 400322 broad.mit.edu 37 15 23331163 23331163 + RNA DEL A A - TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr15:23331163delA ENST00000560464.1 - 0 908 AATAAATACTAAAAAAAAAAA 0.368 2 4 --- --- --- --- ADNP2 22850 broad.mit.edu 37 18 77893677 77893677 + Frame_Shift_Del DEL C C - TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr18:77893677delC ENST00000262198.4 + 4 836 c.381delC c.(379-381)ttfs p.F127fs NM_014913.3 NP_055728.1 Q6IQ32 ADNP2_HUMAN ADNP homeobox 2 127 cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2) 42 all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2) Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164) TCAGAATGTTCCATGCACCTG 0.418 20 74 --- --- --- --- MIR3648-1 100500862 broad.mit.edu 37 21 9825982 9825983 + RNA INS - - C TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr21:9825982_9825983insC ENST00000581792.1 + 0 151_152 NR_037421.1 CCCCGTGGCGTCCCCTTCCCCG 0.807 4 7 --- --- --- --- TXN2 25828 broad.mit.edu 37 22 36876754 36876755 + Frame_Shift_Del DEL AC AC - TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fe53cd5-76dc-491e-aa85-bd85386e1fc5 95c5ac14-9da0-40f8-a7d5-dac263b19b66 g.chr22:36876754_36876755delAC ENST00000216185.2 - 2 596_597 c.130_131delGT c.(130-132)afs p.V44fs TXN2_ENST00000416967.1_5'UTR|TXN2_ENST00000487725.1_5'UTR|TXN2_ENST00000403313.1_Frame_Shift_Del_p.V44fs Q99757 THIOM_HUMAN thioredoxin 2 44 cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport mitochondrion|nucleolus electron carrier activity breast(1)|lung(1)|prostate(1) 3 GTTGGGTGTTACAGTCAGGCCA 0.559 11 126 --- --- --- ---