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 ADAMTS9 56999 broad.mit.edu 37 3 64526833 64526833 + Missense_Mutation SNP G G A TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr3:64526833G>A ENST00000498707.1 - 36 5801 c.5459C>T c.(5458-5460)aCg>aTg p.T1820M ADAMTS9_ENST00000295903.4_Missense_Mutation_p.T1792M NM_182920.1 NP_891550.1 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 9 1820 GON. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) CCCAGCGGCCGTGTAATCCTT 0.468000 11 454 0 0 0.002450 0 0 RGS3 5998 broad.mit.edu 37 9 116241803 116241803 + Missense_Mutation SNP C C G rs138702068 by1000genomes TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr9:116241803C>G ENST00000374140.2 + 5 657 c.448C>G c.(448-450)Cgg>Ggg p.R150G RGS3_ENST00000350696.5_Missense_Mutation_p.R150G|RGS3_ENST00000317613.6_Missense_Mutation_p.R38G NM_144488.4 NP_652759.3 P49796 RGS3_HUMAN regulator of G-protein signaling 3 150 C2. inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway cytosol|nucleus|plasma membrane GTPase activator activity|signal transducer activity p.R150W(1)|p.R46W(1) cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 48 TGCCCAGGACCGGGTTCTGCT 0.587000 7 130 0 0 0.001984 0 0 PRPF40A 55660 broad.mit.edu 37 2 153526811 153526811 + Missense_Mutation SNP T T A TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr2:153526811T>A ENST00000410080.1 - 15 2105 c.1564A>T c.(1564-1566)Act>Tct p.T522S NM_017892.3 NP_060362.3 O75400 PR40A_HUMAN PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae) 549 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 TCAGACCAAGTGGTAGAGTAT 0.368000 6 31 0 0 0.001168 0 0 MMP9 4318 broad.mit.edu 37 20 44640212 44640212 + Splice_Site SNP G G A TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr20:44640212G>A ENST00000372330.3 + 6 842 c.e6-1 NM_004994.2 NP_004985.2 P14780 MMP9_HUMAN matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis extracellular space|proteinaceous extracellular matrix collagen binding|metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3) 46 Myeloproliferative disorder(115;0.0122) Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641) CCTCGCCCCAGGACTCTACAC 0.567000 4 97 0 0 0.009096 0 0 OR4K17 390436 broad.mit.edu 37 14 20586099 20586099 + Silent SNP C C A TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr14:20586099C>A ENST00000315543.4 + 1 534 c.534C>A c.(532-534)acC>acA p.T178T NM_001004715.1 NP_001004715.1 Q8NGC6 OR4KH_HUMAN olfactory receptor, family 4, subfamily K, member 17 150 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3) 21 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.77e-06) GBM - Glioblastoma multiforme(265;0.0144) TTGTAGTGACCTCATGGCTCT 0.453000 20 53 2.4624e-09 6.78885e-09 0.008871 1 0 ATRNL1 26033 broad.mit.edu 37 10 117059735 117059735 + Silent SNP C C T TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr10:117059735C>T ENST00000355044.3 + 16 2733 c.2607C>T c.(2605-2607)ggC>ggT p.G869G NM_207303.2 NP_997186.1 Q5VV63 ATRN1_HUMAN attractin-like 1 869 C-type lectin. integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) TGGCAAATGGCCTTGTCTGTG 0.438000 7 32 0 0 0.003080 0 0 SYNE1 23345 broad.mit.edu 37 6 152772230 152772230 + Silent SNP G G T TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr6:152772230G>T ENST00000367255.5 - 26 3739 c.3138C>A c.(3136-3138)acC>acA p.T1046T SYNE1_ENST00000367248.3_Silent_p.T1036T|SYNE1_ENST00000423061.1_Silent_p.T1053T|SYNE1_ENST00000413186.2_Silent_p.T1046T|SYNE1_ENST00000448038.1_Silent_p.T1053T|SYNE1_ENST00000341594.5_Silent_p.T1112T|SYNE1_ENST00000367253.4_Silent_p.T1046T|SYNE1_ENST00000265368.4_Silent_p.T1046T NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1046 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GCATCAGCTTGGTCTCTCGAT 0.463000 HNSCC(10;0.0054) 6 119 8.12818e-05 0.000208506 0.001984 1 0 IGHV3-64 28414 broad.mit.edu 37 14 107114004 107114004 + RNA SNP A A C TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr14:107114004A>C ENST00000454421.2 - 0 167 GGCTGGACCAAGCCTTCCCCA 0.577000 4 129 0 0 0.000602 0 0 FAM86C2P 645332 broad.mit.edu 37 11 67564228 67564228 + RNA SNP C C T TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr11:67564228C>T ENST00000528089.1 - 0 912 GAGGAGCCCGCTGGTGCTCCC 0.627000 5 47 0 0 0.000602 0 0 FRG1B 284802 broad.mit.edu 37 20 29625905 29625905 + Missense_Mutation SNP T T C rs137871677 by1000genomes TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr20:29625905T>C ENST00000278882.3 + 5 529 c.149T>C c.(148-150)cTt>cCt p.L50P FRG1B_ENST00000358464.4_Missense_Mutation_p.L50P|FRG1B_ENST00000439954.2_Missense_Mutation_p.L55P p.L50P(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGAAAATATCTTGGTATAAAT 0.333000 4 81 0 0 0.009096 0 0 IARS2 55699 broad.mit.edu 37 1 220315224 220315224 + Missense_Mutation SNP C C T TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr1:220315224C>T ENST00000366922.1 + 20 2609 c.2278C>T c.(2278-2280)Cgt>Tgt p.R760C IARS2_ENST00000302637.5_Missense_Mutation_p.R832C|IARS2_ENST00000467924.1_3'UTR Q9NSE4 SYIM_HUMAN isoleucyl-tRNA synthetase 2, mitochondrial 832 isoleucyl-tRNA aminoacylation mitochondrial matrix ATP binding|isoleucine-tRNA ligase activity NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 51 GBM - Glioblastoma multiforme(131;0.0554) L-Isoleucine(DB00167) TGTAATAGTTCGTTCTTTTGC 0.378000 54 110 0 0 0.014410 0 0 PHC2 1912 broad.mit.edu 37 1 33832801 33832801 + Missense_Mutation SNP T T G TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr1:33832801T>G ENST00000257118.5 - 6 945 c.892A>C c.(892-894)Agc>Cgc p.S298R PHC2_ENST00000431992.1_Missense_Mutation_p.S269R|PHC2_ENST00000419414.2_Missense_Mutation_p.S298R|PHC2_ENST00000373416.1_5'UTR NM_198040.2 NP_932157.1 Q8IXK0 PHC2_HUMAN polyhomeotic homolog 2 (Drosophila) 298 multicellular organismal development PcG protein complex DNA binding|identical protein binding|zinc ion binding autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) GGCACACTGCTGTTGCCATCT 0.602000 13 144 0 0 0.002450 0 0 GRIA1 2890 broad.mit.edu 37 5 153054142 153054142 + Missense_Mutation SNP C C G TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr5:153054142C>G ENST00000285900.5 + 6 1125 c.782C>G c.(781-783)aCt>aGt p.T261S GRIA1_ENST00000521843.2_Missense_Mutation_p.T192S|GRIA1_ENST00000518142.1_Missense_Mutation_p.T181S|GRIA1_ENST00000340592.5_Missense_Mutation_p.T261S|GRIA1_ENST00000448073.4_Missense_Mutation_p.T271S|GRIA1_ENST00000518783.1_Missense_Mutation_p.T271S NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 261 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) TACACAGACACTATTCCGGCC 0.532000 42 133 0 0 0.006999 0 0 SLC26A8 116369 broad.mit.edu 37 6 35911728 35911728 + Silent SNP G G T TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr6:35911728G>T ENST00000490799.1 - 20 3215 c.2862C>A c.(2860-2862)cgC>cgA p.R954R SLC26A8_ENST00000355574.2_Silent_p.R954R|SLC26A8_ENST00000394602.2_Silent_p.R849R NM_052961.3 NP_443193.1 Q96RN1 S26A8_HUMAN solute carrier family 26 (anion exchanger), member 8 954 Interaction with RACGAP1. cell differentiation|meiosis|multicellular organismal development|spermatogenesis integral to membrane|plasma membrane anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 46 CCATAGGATGGCGTCTCCTCT 0.488000 26 136 1.33986e-20 3.83747e-20 0.004656 1 0 TRPV5 56302 broad.mit.edu 37 7 142627261 142627261 + Missense_Mutation SNP T T C TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr7:142627261T>C ENST00000265310.1 - 3 589 c.241A>G c.(241-243)Acg>Gcg p.T81A TRPV5_ENST00000442623.1_Missense_Mutation_p.T81A NM_019841.4 NP_062815.2 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, subfamily V, member 5 81 protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 67 Melanoma(164;0.059) TGCAGCGCCGTCTCCCCCAGG 0.587000 5 94 0 0 0.000602 0 0 UPK2 7379 broad.mit.edu 37 11 118827131 118827131 + Missense_Mutation SNP C C A TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr11:118827131C>A ENST00000264031.2 + 1 106 c.71C>A c.(70-72)gCt>gAt p.A24D UPK2_ENST00000534788.1_Intron NM_006760.3 NP_006751.1 O00526 UPK2_HUMAN uroplakin 2 24 cellular membrane organization|epithelial cell differentiation|multicellular organismal development integral to endoplasmic reticulum membrane|integral to plasma membrane kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1) 5 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_hematologic(192;0.122)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;7.47e-05) TCCCCAGGGGCTGCAGGTCTC 0.637000 12 53 0.00136819 0.00336348 0.013537 1 0 GRIK5 2901 broad.mit.edu 37 19 42566747 42566747 + Missense_Mutation SNP G G A TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr19:42566747G>A ENST00000262895.3 - 4 400 c.401C>T c.(400-402)gCg>gTg p.A134V GRIK5_ENST00000301218.4_Missense_Mutation_p.A134V|GRIK5_ENST00000593562.1_Missense_Mutation_p.A134V NM_002088.4 NP_002079.3 Q16478 GRIK5_HUMAN glutamate receptor, ionotropic, kainate 5 134 cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 35 Prostate(69;0.059) L-Glutamic Acid(DB00142) GCTGACAGACGCGAAGCGAAG 0.602000 11 141 0 0 0.001855 0 0 PCDHGA1 56114 broad.mit.edu 37 5 140712490 140712490 + Missense_Mutation SNP C C T TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr5:140712490C>T ENST00000517417.1 + 1 2239 c.2239C>T c.(2239-2241)Cgg>Tgg p.R747W PCDHGA1_ENST00000378105.3_Missense_Mutation_p.R747W NM_018912.2 NP_061735.1 breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGACGGGGTTCGGGCTTTCCT 0.627000 5 114 0 0 0.000602 0 0 LRRC8E 80131 broad.mit.edu 37 19 7965628 7965628 + Translation_Start_Site SNP G G A TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr19:7965628G>A ENST00000539278.1 - 0 2799 LRRC8E_ENST00000306708.6_Missense_Mutation_p.V741M CTCGCCCCACGTGGGTGCCCT 0.642000 5 105 0 0 0.000602 0 0 PTCHD1 139411 broad.mit.edu 37 X 23398084 23398084 + Missense_Mutation SNP C C G TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chrX:23398084C>G ENST00000379361.4 + 2 1588 c.728C>G c.(727-729)tCc>tGc p.S243C NM_173495.2 NP_775766.2 Q96NR3 PTHD1_HUMAN patched domain containing 1 243 cognition|smoothened signaling pathway integral to membrane|plasma membrane hedgehog receptor activity NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2) 42 TTTCAGAAATCCAACAGCAAA 0.507000 15 138 0 0 0.007413 0 0 TRIM27 5987 broad.mit.edu 37 6 28871870 28871870 + Missense_Mutation SNP G G C TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr6:28871870G>C ENST00000377199.3 - 8 1875 c.1519C>G c.(1519-1521)Cat>Gat p.H507D TRIM27_ENST00000377194.3_3'UTR NM_006510.4 NP_006501.1 P14373 TRI27_HUMAN tripartite motif containing 27 507 cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding endometrium(1)|large_intestine(2)|lung(6)|ovary(1) 10 TCCATGGAATGACCATGATTC 0.527000 T RET papillary thyroid 7 97 0 0 0.003080 0 0 FCGBP 8857 broad.mit.edu 37 19 40408685 40408685 + Missense_Mutation SNP T T A rs61735900 byFrequency TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr19:40408685T>A ENST00000221347.6 - 8 4161 c.4154A>T c.(4153-4155)cAg>cTg p.Q1385L NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 1385 VWFD 3. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GCCACACATCTGCTGGTAGTA 0.567000 5 150 0 0 0.010729 0 0 KCNG1 3755 broad.mit.edu 37 20 49620833 49620833 + Missense_Mutation SNP C C T TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr20:49620833C>T ENST00000371571.4 - 3 1570 c.1285G>A c.(1285-1287)Gac>Aac p.D429N RP5-955M13.4_ENST00000424566.1_RNA|RP5-955M13.3_ENST00000506387.1_RNA NM_002237.3 NP_002228.2 Q9UIX4 KCNG1_HUMAN potassium voltage-gated channel, subfamily G, member 1 429 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 GGGACCATGTCGCCATAGCCC 0.627000 16 93 0 0 0.004990 0 0 PRUNE2 158471 broad.mit.edu 37 9 79321837 79321837 + Missense_Mutation SNP C C G TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr9:79321837C>G ENST00000428286.1 - 8 5476 c.4276G>C c.(4276-4278)Gag>Cag p.E1426Q PRUNE2_ENST00000376718.3_Missense_Mutation_p.E1785Q Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 1785 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 GATCTCTTCTCCTTCTCCACT 0.443000 4 25 0 0 0.009096 0 0 VRTN 55237 broad.mit.edu 37 14 74823852 74823852 + Silent SNP C C T TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr14:74823852C>T ENST00000256362.4 + 2 607 c.366C>T c.(364-366)ggC>ggT p.G122G NM_018228.2 NP_060698.2 Q9H8Y1 VRTN_HUMAN vertebrae development associated 122 transposition, DNA-mediated DNA binding|transposase activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1) 41 ACCTCCAGGGCATGATCGACT 0.647000 4 24 0 0 0.009096 0 0 TCP11 6954 broad.mit.edu 37 6 35108611 35108611 + Missense_Mutation SNP G G T TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr6:35108611G>T ENST00000311875.5 - 2 493 c.76C>A c.(76-78)Cct>Act p.P26T TCP11_ENST00000244645.3_5'UTR|TCP11_ENST00000512012.1_Missense_Mutation_p.P13T|TCP11_ENST00000373974.4_Intron|TCP11_ENST00000444780.2_Missense_Mutation_p.P26T|TCP11_ENST00000510465.1_5'UTR|TCP11_ENST00000412155.2_Intron|TCP11_ENST00000418521.2_Intron|TCP11_ENST00000373979.2_5'UTR Q8WWU5 TCP11_HUMAN t-complex 11, testis-specific 13 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4) 27 GAGTCGCCAGGATATTTCGGG 0.622000 7 34 0.000157383 0.000400242 0.003080 1 0 ATP1A3 478 broad.mit.edu 37 19 42485697 42485697 + Missense_Mutation SNP T T C TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr19:42485697T>C ENST00000545399.1 - 11 1586 c.1433A>G c.(1432-1434)aAg>aGg p.K478R ATP1A3_ENST00000302102.5_Missense_Mutation_p.K465R|ATP1A3_ENST00000543770.1_Missense_Mutation_p.K476R|ATP1A3_ENST00000602133.1_Missense_Mutation_p.K435R NM_001256214.1 NP_001243143.1 P13637 AT1A3_HUMAN ATPase, Na+/K+ transporting, alpha 3 polypeptide 465 ATP biosynthetic process endoplasmic reticulum|Golgi apparatus ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 52 AGCCACTTTCTTGTTGCGTTC 0.557000 15 75 0 0 0.004007 0 0 ANK3 288 broad.mit.edu 37 10 61828512 61828512 + Silent SNP G G T TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr10:61828512G>T ENST00000280772.1 - 37 12318 c.12127C>A c.(12127-12129)Cgg>Agg p.R4043R ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 4043 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding p.R4043R(1) NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TGGCCACCCCGGGAAGTCTCG 0.488000 9 146 7.48243e-07 2.04381e-06 0.006214 1 0 TFEC 22797 broad.mit.edu 37 7 115624450 115624450 + Missense_Mutation SNP G G T TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr7:115624450G>T ENST00000265440.7 - 2 226 c.46C>A c.(46-48)Caa>Aaa p.Q16K TFEC_ENST00000320239.7_Missense_Mutation_p.Q16K|TFEC_ENST00000393485.1_Missense_Mutation_p.Q16K|TFEC_ENST00000484212.1_Missense_Mutation_p.Q106K NM_012252.3 NP_036384.1 O14948 TFEC_HUMAN transcription factor EC 16 Necessary for transcriptional transactivation. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2) 25 STAD - Stomach adenocarcinoma(10;0.00878) ACTGCAGGTTGTGACCATTTA 0.483000 62 63 1.48873e-21 4.30563e-21 0.014410 1 0 ATP11C 286410 broad.mit.edu 37 X 138856964 138856964 + Missense_Mutation SNP T T C TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chrX:138856964T>C ENST00000370557.1 - 19 3128 c.2101A>G c.(2101-2103)Acc>Gcc p.T701A ATP11C_ENST00000327569.3_Missense_Mutation_p.T704A|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000359686.2_Missense_Mutation_p.T704A|ATP11C_ENST00000361648.2_Missense_Mutation_p.T704A|ATP11C_ENST00000370543.1_Missense_Mutation_p.T704A Q8NB49 AT11C_HUMAN ATPase, class VI, type 11C 704 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) GTTTTTGTGGTTAGTTCTAAG 0.418000 4 52 0 0 0.009096 0 0 PDE6C 5146 broad.mit.edu 37 10 95380467 95380467 + Missense_Mutation SNP G G A TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr10:95380467G>A ENST00000371447.3 + 2 697 c.559G>A c.(559-561)Ggc>Agc p.G187S NM_006204.3 NP_006195.3 P51160 PDE6C_HUMAN phosphodiesterase 6C, cGMP-specific, cone, alpha prime 187 GAF 1. visual perception plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.123) GATCGTGGTGGGCAAGGAGGT 0.448000 9 102 0 0 0.004482 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T C rs11554290 TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr1:115256529T>C ENST00000369535.4 - 3 435 c.182A>G c.(181-183)cAa>cGa p.Q61R NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 74 89 0 0 0.014410 0 0 KCNT2 343450 broad.mit.edu 37 1 196250003 196250003 + Missense_Mutation SNP A A C TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr1:196250003A>C ENST00000367433.5 - 24 2926 c.2825T>G c.(2824-2826)cTt>cGt p.L942R KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.L892R|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000294725.8_Missense_Mutation_p.L966R Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 966 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity p.L966R(1) NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 AGATGTAGTAAGTTTCTGAGA 0.328000 4 53 0 0 0.009096 0 0 AE000661.37 0 broad.mit.edu 37 14 22891797 22891797 + RNA SNP C C T TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr14:22891797C>T ENST00000514473.2 - 0 225 TRDV2_ENST00000390469.2_RNA|AE000661.37_ENST00000537850.1_RNA|AE000661.37_ENST00000535351.1_RNA|AE000661.37_ENST00000541008.1_RNA|AE000661.37_ENST00000545670.1_RNA AATAGGGGTCCCTGCCACCCT 0.502000 6 65 0 0 0.001168 0 0 POM121L9P 29774 broad.mit.edu 37 22 24659813 24659813 + RNA SNP C C T TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr22:24659813C>T ENST00000414583.2 + 0 3338 NR_003714.1 ATCTGCGCACCCGGAGGTGGG 0.607000 3 6 0 0 0.004672 0 0 OR10S1 219873 broad.mit.edu 37 11 123847612 123847612 + Missense_Mutation SNP G G A TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr11:123847612G>A ENST00000531945.1 - 1 876 c.787C>T c.(787-789)Ctc>Ttc p.L263F NM_001004474.1 NP_001004474.1 Q8NGN2 O10S1_HUMAN olfactory receptor, family 10, subfamily S, member 1 263 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 36 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) TAGTACAGGAGCACCCCAGTG 0.602000 25 82 0 0 0.002780 0 0 MEIS3 56917 broad.mit.edu 37 19 47910798 47910798 + Missense_Mutation SNP G G T TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr19:47910798G>T ENST00000331559.5 - 9 1274 c.833C>A c.(832-834)cCa>cAa p.P278Q MEIS3_ENST00000558555.1_Intron|MEIS3_ENST00000561096.1_Intron|MEIS3_ENST00000441740.2_Intron|MEIS3_ENST00000560253.1_Intron|MEIS3_ENST00000559524.1_Missense_Mutation_p.P295Q|MEIS3_ENST00000561293.1_Missense_Mutation_p.P295Q NM_020160.2 NP_064545.1 Q99687 MEIS3_HUMAN Meis homeobox 3 286 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2) 20 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223) GCAGACGTCTGGGAGAACCGG 0.682000 4 23 0.00024832 0.0006208 0.009096 1 0 ADCYAP1R1 117 broad.mit.edu 37 7 31126128 31126128 + Missense_Mutation SNP A A G TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr7:31126128A>G ENST00000304166.4 + 10 1089 c.800A>G c.(799-801)tAc>tGc p.Y267C ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.Y267C|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.Y267C|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.Y246C NM_001118.4|NM_001199635.1|NM_001199636.1 NP_001109.2|NP_001186564.1|NP_001186565.1 P41586 PACR_HUMAN adenylate cyclase activating polypeptide 1 (pituitary) receptor type I 267 activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis integral to plasma membrane vasoactive intestinal polypeptide receptor activity endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1) 35 AGATACTTCTACTGGTACACC 0.527000 28 60 0 0 0.006320 0 0 OR2Z1 284383 broad.mit.edu 37 19 8842005 8842005 + Silent SNP G G T TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr19:8842005G>T ENST00000324060.2 + 1 690 c.615G>T c.(613-615)ctG>ctT p.L205L NM_001004699.1 NP_001004699.1 Q8NG97 OR2Z1_HUMAN olfactory receptor, family 2, subfamily Z, member 1 205 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 CAGGGGTGCTGATCCTAATGC 0.567000 OREG0007662 type=TRANSCRIPTION FACTOR BINDING SITE|Gene=OR2Z1|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) 7 90 2.0095e-06 5.43855e-06 0.001984 1 0 CTAGE1 64693 broad.mit.edu 37 18 19996184 19996184 + Missense_Mutation SNP G G C TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr18:19996184G>C ENST00000391403.2 - 1 1694 c.1591C>G c.(1591-1593)Cca>Gca p.P531A NM_172241.2 NP_758441.2 Q96RT6 CTGE2_HUMAN cutaneous T-cell lymphoma-associated antigen 1 531 integral to membrane cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1) 27 all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135) GGATTCCCTGGGCCTCTGGAG 0.527000 6 89 0 0 0.001984 0 0 OR12D2 26529 broad.mit.edu 37 6 29365088 29365088 + Silent SNP T T C rs144790258 by1000genomes TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr6:29365088T>C ENST00000383555.2 + 1 673 c.612T>C c.(610-612)atT>atC p.I204I OR5V1_ENST00000377154.1_Intron NM_013936.3 NP_039224.2 P58182 O12D2_HUMAN olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene) 204 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 31 CGGGGACAATTGCCATGGGCC 0.443000 4 177 0 0 0.009096 0 0 TTC8 123016 broad.mit.edu 37 14 89338675 89338675 + Splice_Site SNP G G C TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr14:89338675G>C ENST00000338104.6 + 13 1326 c.1272_splice c.e13-1 p.G425_splice TTC8_ENST00000346301.4_Splice_Site_p.G369_splice|TTC8_ENST00000354441.6_Splice_Site_p.G144_splice|TTC8_ENST00000380656.2_Splice_Site_p.G409_splice|TTC8_ENST00000358622.5_Splice_Site_p.G211_splice|TTC8_ENST00000345383.5_Splice_Site_p.G399_splice|TTC8_ENST00000536576.1_Splice_Site_p.G170_splice Q8TAM2 TTC8_HUMAN tetratricopeptide repeat domain 8 435 cilium assembly|establishment of anatomical structure orientation|sensory processing BBSome|centrosome|cilium membrane|microtubule basal body protein binding endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1) 15 CTTTTGTAGGGAATAGGAGAT 0.488000 3 57 0 0 0.004672 0 0 NEUROD6 63974 broad.mit.edu 37 7 31378867 31378867 + Missense_Mutation SNP A A C TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr7:31378867A>C ENST00000297142.3 - 2 338 c.16T>G c.(16-18)Ttt>Gtt p.F6V NM_022728.2 NP_073565.2 Q96NK8 NDF6_HUMAN neuronal differentiation 6 6 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 32 GACTCATCAAACGGTAGTGTT 0.338000 9 260 0 0 0.006214 0 0 SEC14L1 6397 broad.mit.edu 37 17 75210034 75210034 + Missense_Mutation SNP G G A TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr17:75210034G>A ENST00000413679.2 + 17 2380 c.2077G>A c.(2077-2079)Ggc>Agc p.G693S SEC14L1_ENST00000430767.4_Missense_Mutation_p.G693S|SEC14L1_ENST00000443798.4_Missense_Mutation_p.G693S|SEC14L1_ENST00000392476.2_Missense_Mutation_p.G693S|SEC14L1_ENST00000591437.1_Missense_Mutation_p.G659S|SEC14L1_ENST00000436233.4_Missense_Mutation_p.G693S|SEC14L1_ENST00000585618.1_Missense_Mutation_p.G693S|SEC14L1_ENST00000431431.2_Missense_Mutation_p.G659S NM_001143998.1|NM_001143999.1|NM_003003.3 NP_001137470.1|NP_001137471.1|NP_002994.3 Q92503 S14L1_HUMAN SEC14-like 1 (S. cerevisiae) 693 transport Golgi apparatus|integral to membrane binding NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2) 31 CAGCCACAGCGGCTTCTCCCA 0.657000 21 104 0 0 0.002780 0 0 CMSS1 84319 broad.mit.edu 37 3 99891184 99891184 + Missense_Mutation SNP G G C TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr3:99891184G>C ENST00000421999.2 + 8 750 c.604G>C c.(604-606)Gag>Cag p.E202Q CMSS1_ENST00000489081.1_Missense_Mutation_p.E184Q NM_032359.3 NP_115735.2 cms1 ribosomal small subunit homolog (yeast) AAAGTTGCTGGAGAAGCGTGT 0.443000 9 66 0 0 0.006214 0 0 LAMA1 284217 broad.mit.edu 37 18 6943282 6943282 + Silent SNP A A C TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr18:6943282A>C ENST00000389658.3 - 62 9057 c.8964T>G c.(8962-8964)cgT>cgG p.R2988R NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 2988 Laminin G-like 5. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TCAGAGTGATACGGTGTTTGC 0.493000 19 122 0 0 0.007413 0 0 TRBV5-4 28611 broad.mit.edu 37 7 142168862 142168862 + RNA SNP A A G rs140095394 by1000genomes TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr7:142168862A>G ENST00000454561.2 - 0 183 TGGGCCAGGCAGCACTGCACC 0.597000 4 44 0 0 0.001168 0 0 ZNF385C 201181 broad.mit.edu 37 17 40180231 40180231 + Missense_Mutation SNP C C T TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr17:40180231C>T ENST00000436535.3 - 6 1004 c.1004G>A c.(1003-1005)cGa>cAa p.R335Q ZNF385C_ENST00000461831.1_5'UTR zinc finger protein 385C lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 3 all_cancers(22;0.00127)|Breast(137;0.00104)|all_epithelial(22;0.0126) GGGAGCCCCTCGCTGACCTTC 0.706000 6 90 0 0 0.001168 0 0 PDGFB 5155 broad.mit.edu 37 22 39626222 39626222 + Silent SNP G G A TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr22:39626222G>A ENST00000331163.6 - 5 1255 c.468C>T c.(466-468)atC>atT p.I156I PDGFB_ENST00000381551.4_Silent_p.I141I NM_002608.2 NP_002599.1 P01127 PDGFB_HUMAN platelet-derived growth factor beta polypeptide 156 activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|Golgi membrane|platelet alpha granule lumen collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity COL1A1/PDGFB(429) central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2) 7 Melanoma(58;0.04) Becaplermin(DB00102) GCACAATCTCGATCTTTCTCA 0.582000 T COL1A1 DFSP 7 88 0 0 0.001984 0 0 TTN 7273 broad.mit.edu 37 2 179616651 179616651 + Missense_Mutation SNP T T C TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr2:179616651T>C ENST00000360870.5 - 46 10698 c.10476A>G c.(10474-10476)atA>atG p.I3492M TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 3494 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTGTAGATGATATTCTACTTG 0.378000 65 119 0 0 0.014410 0 0 ALDH1L1 10840 broad.mit.edu 37 3 125844474 125844474 + Silent SNP C C T TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr3:125844474C>T ENST00000393434.2 - 15 2134 c.1785G>A c.(1783-1785)gtG>gtA p.V595V ALDH1L1_ENST00000452905.2_Silent_p.V494V|ALDH1L1_ENST00000472186.1_Silent_p.V595V|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000273450.3_Silent_p.V605V NM_012190.3 NP_036322.2 O75891 AL1L1_HUMAN aldehyde dehydrogenase 1 family, member L1 595 Aldehyde dehydrogenase. 10-formyltetrahydrofolate catabolic process|biosynthetic process acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 52 GBM - Glioblastoma multiforme(114;0.0462) Tetrahydrofolic acid(DB00116) CAGGCTTGATCACCACTGTGT 0.582000 5 71 0 0 0.001984 0 0 STEAP3 55240 broad.mit.edu 37 2 120020788 120020788 + Silent SNP C C T TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr2:120020788C>T ENST00000354888.5 + 6 1845 c.1341C>T c.(1339-1341)gcC>gcT p.A447A STEAP3_ENST00000393106.2_Silent_p.A447A|STEAP3_ENST00000393108.2_Silent_p.A447A|STEAP3_ENST00000409811.1_3'UTR|STEAP3_ENST00000425223.2_Silent_p.A447A|STEAP3_ENST00000393110.2_Silent_p.A457A|STEAP3_ENST00000393107.2_Silent_p.A447A NM_182915.2 NP_878919.2 Q658P3 STEA3_HUMAN STEAP family member 3, metalloreductase 447 apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport endosome membrane|integral to membrane|multivesicular body electron carrier activity|flavin adenine dinucleotide binding|iron ion binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1) 17 TGGCCAAAGCCCTGTTTCTCC 0.647000 9 100 0 0 0.006214 0 0 PNMAL1 55228 broad.mit.edu 37 19 46974137 46974137 + Silent SNP C C T TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr19:46974137C>T ENST00000313683.10 - 2 461 c.156G>A c.(154-156)ccG>ccA p.P52P PNMAL1_ENST00000602246.1_Silent_p.P52P|PNMAL1_ENST00000438932.2_Silent_p.P52P NM_001103149.1|NM_018215.3 NP_001096619.1|NP_060685.2 Q86V59 PNML1_HUMAN paraneoplastic Ma antigen family-like 1 52 cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Ovarian(192;0.00965)|all_neural(266;0.0459) OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427) gcacgcggtacgggcccagtg 0.537000 9 41 0 0 0.004482 0 0 MYH8 4626 broad.mit.edu 37 17 10304723 10304723 + Missense_Mutation SNP C C T TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr17:10304723C>T ENST00000403437.2 - 24 3071 c.2977G>A c.(2977-2979)Gca>Aca p.A993T CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 993 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 GACAGTTTTGCAATGGTTTCA 0.458000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 11 112 0 0 0.010729 0 0 LPHN3 23284 broad.mit.edu 37 4 62845386 62845386 + Missense_Mutation SNP C C T TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr4:62845386C>T ENST00000512091.1 + 17 3454 c.2707C>T c.(2707-2709)Cgg>Tgg p.R903W LPHN3_ENST00000506700.1_Missense_Mutation_p.R903W|LPHN3_ENST00000506746.1_Missense_Mutation_p.R971W|LPHN3_ENST00000509896.1_Missense_Mutation_p.R971W|LPHN3_ENST00000545650.1_Missense_Mutation_p.R903W|LPHN3_ENST00000508946.1_Missense_Mutation_p.R903W|LPHN3_ENST00000511324.1_Missense_Mutation_p.R971W|LPHN3_ENST00000507164.1_Missense_Mutation_p.R971W|LPHN3_ENST00000508693.1_Missense_Mutation_p.R971W|LPHN3_ENST00000514996.1_Missense_Mutation_p.R903W|LPHN3_ENST00000514591.1_Missense_Mutation_p.R903W|LPHN3_ENST00000514157.1_Missense_Mutation_p.R903W|LPHN3_ENST00000504896.1_Missense_Mutation_p.R903W|LPHN3_ENST00000506720.1_Missense_Mutation_p.R971W|LPHN3_ENST00000507625.1_Missense_Mutation_p.R971W Q9HAR2 LPHN3_HUMAN latrophilin 3 890 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 TTGCTTTTTCCGGGGGCTCCA 0.493000 64 180 0 0 0.014410 0 0 ZNF317 57693 broad.mit.edu 37 19 9271505 9271505 + Missense_Mutation SNP G G T TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr19:9271505G>T ENST00000247956.6 + 7 1489 c.1184G>T c.(1183-1185)tGc>tTc p.C395F ZNF317_ENST00000360385.3_Missense_Mutation_p.C363F NM_020933.4 NP_065984.3 Q96PQ6 ZN317_HUMAN zinc finger protein 317 395 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3) 27 TGTAAAGAATGCGGGAAATCC 0.517000 4 41 2.56e-06 6.86545e-06 0.009096 1 0 NLRP2 55655 broad.mit.edu 37 19 55489137 55489137 + Nonsense_Mutation SNP C C T TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr19:55489137C>T ENST00000543010.1 + 4 486 c.343C>T c.(343-345)Cga>Tga p.R115* NLRP2_ENST00000263437.6_Nonsense_Mutation_p.R115*|NLRP2_ENST00000538819.1_Intron|NLRP2_ENST00000537859.1_Nonsense_Mutation_p.R115*|NLRP2_ENST00000448584.2_Nonsense_Mutation_p.R115*|NLRP2_ENST00000427260.2_Nonsense_Mutation_p.R92*|NLRP2_ENST00000391721.4_Intron|NLRP2_ENST00000339757.7_Nonsense_Mutation_p.R115* NM_001174081.1 NP_001167552.1 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 115 apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding p.R115*(1) large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) ACGGAAAGAACGACCACCTCT 0.552000 5 93 0 0 0.000602 0 0 GDNF 2668 broad.mit.edu 37 5 37816054 37816054 + Missense_Mutation SNP C C T TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr5:37816054C>T ENST00000326524.2 - 3 534 c.335G>A c.(334-336)aGg>aAg p.R112K GDNF_ENST00000381826.4_Missense_Mutation_p.R103K|GDNF_ENST00000515058.1_Missense_Mutation_p.R86K|GDNF_ENST00000427982.1_Missense_Mutation_p.R129K|GDNF_ENST00000344622.4_Missense_Mutation_p.R86K NM_000514.3 NP_000505.1 P39905 GDNF_HUMAN glial cell derived neurotrophic factor 112 adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development extracellular region growth factor activity|protein homodimerization activity NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2) 15 all_lung(31;0.00118) GTTTTTGCCCCTCTGGCCTCT 0.493000 15 105 0 0 0.002450 0 0 TMEM8B 51754 broad.mit.edu 37 9 35853764 35853764 + Missense_Mutation SNP G G C TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr9:35853764G>C ENST00000377988.2 + 13 2634 c.1346G>C c.(1345-1347)tGc>tCc p.C449S TMEM8B_ENST00000377991.4_Missense_Mutation_p.C449S NM_001042590.2 NP_001036055.1 A6NDV4 TMM8B_HUMAN transmembrane protein 8B 449 cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1) 7 TACCAGCTATGCATCAACGAG 0.677000 12 99 0 0 0.001855 0 0 GRIN2A 2903 broad.mit.edu 37 16 9857593 9857593 + Missense_Mutation SNP C C G TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr16:9857593C>G ENST00000396573.2 - 14 4117 c.3808G>C c.(3808-3810)Gac>Cac p.D1270H GRIN2A_ENST00000535259.1_Intron|GRIN2A_ENST00000396575.2_Missense_Mutation_p.D1270H|GRIN2A_ENST00000562109.1_Intron|GRIN2A_ENST00000330684.3_Missense_Mutation_p.D1270H|GRIN2A_ENST00000404927.2_Intron NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 1270 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TGTGCCCAGTCCTGCTGGTAG 0.517000 12 78 0 0 0.010729 0 0 ALDH1L1 10840 broad.mit.edu 37 3 125844486 125844486 + Silent SNP C C T TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr3:125844486C>T ENST00000393434.2 - 15 2122 c.1773G>A c.(1771-1773)ggG>ggA p.G591G ALDH1L1_ENST00000452905.2_Silent_p.G490G|ALDH1L1_ENST00000472186.1_Silent_p.G591G|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000273450.3_Silent_p.G601G NM_012190.3 NP_036322.2 O75891 AL1L1_HUMAN aldehyde dehydrogenase 1 family, member L1 591 Aldehyde dehydrogenase. 10-formyltetrahydrofolate catabolic process|biosynthetic process acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 52 GBM - Glioblastoma multiforme(114;0.0462) Tetrahydrofolic acid(DB00116) CCACTGTGTTCCCGGCAGCCA 0.572000 4 81 0 0 0.001168 0 0 NTMT1 28989 broad.mit.edu 37 9 132395060 132395060 + Silent SNP G G A TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr9:132395060G>A ENST00000372486.1 + 2 427 c.78G>A c.(76-78)acG>acA p.T26T NTMT1_ENST00000459968.2_Silent_p.T26T|NTMT1_ENST00000482347.1_Intron|NTMT1_ENST00000372483.4_Silent_p.T26T|NTMT1_ENST00000486391.2_3'UTR|NTMT1_ENST00000372480.1_Silent_p.T26T|NTMT1_ENST00000372481.3_Silent_p.T26T N-terminal Xaa-Pro-Lys N-methyltransferase 1 TCCCACCCACGGTGGACGGCA 0.547000 13 89 0 0 0.013537 0 0 UGT3A1 133688 broad.mit.edu 37 5 35954471 35954471 + Missense_Mutation SNP T T C TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr5:35954471T>C ENST00000274278.3 - 7 1762 c.1405A>G c.(1405-1407)Acg>Gcg p.T469A NM_152404.3 NP_689617.3 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 469 integral to membrane glucuronosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4) 46 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TTGAGGTGCGTCGCTCCCCCA 0.612000 6 22 0 0 0.001984 0 0 B2M 567 broad.mit.edu 37 15 45003745 45003745 + Translation_Start_Site SNP A A T TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr15:45003745A>T ENST00000558401.1 + 1 71 c.1A>T c.(1-3)Atg>Ttg p.M1L B2M_ENST00000559916.1_Start_Codon_SNP_p.M1L|B2M_ENST00000544417.1_Start_Codon_SNP_p.M1L NM_004048.2 NP_004039.1 P61769 B2MG_HUMAN beta-2-microglobulin 1 antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction early endosome membrane|Golgi membrane|MHC class I protein complex protein binding p.M1L(3)|p.M1V(2)|p.?(1) breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1) 59 all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122) all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192) TCGGGCCGAGATGTCTCGCTC 0.612000 14 38 0 0 0.004990 0 0 ZNF85 7639 broad.mit.edu 37 19 21131712 21131712 + Missense_Mutation SNP G G C TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr19:21131712G>C ENST00000601023.1 + 2 861 c.215G>C c.(214-216)tGt>tCt p.C72S ZNF85_ENST00000345030.6_Missense_Mutation_p.C98S|ZNF85_ENST00000597314.1_3'UTR|ZNF85_ENST00000328178.8_Missense_Mutation_p.C131S Q03923 ZNF85_HUMAN zinc finger protein 85 131 KRAB. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding p.C131F(1) breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2) 20 AAAGGAGGTTGTAATGGACTT 0.328000 4 57 0 0 0.009096 0 0 SERPINA7 6906 broad.mit.edu 37 X 105277631 105277631 + Missense_Mutation SNP C C A TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chrX:105277631C>A ENST00000327674.4 - 4 1443 c.1108G>T c.(1108-1110)Gtt>Ttt p.V370F SERPINA7_ENST00000372563.1_Missense_Mutation_p.V370F P05543 THBG_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 370 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3) 24 Levothyroxine(DB00451)|Liothyronine(DB00279) GAAAGTTCAACTTCAGGGACA 0.458000 21 151 9.95505e-16 2.82379e-15 0.014323 1 0 ARHGAP44 9912 broad.mit.edu 37 17 12883489 12883489 + Silent SNP G G T TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr17:12883489G>T ENST00000379672.5 + 19 2178 c.1878G>T c.(1876-1878)ccG>ccT p.P626P ARHGAP44_ENST00000262444.9_Silent_p.P626P|ARHGAP44_ENST00000340825.3_Silent_p.P620P NM_014859.4 NP_055674.4 Q17R89 RHG44_HUMAN Rho GTPase activating protein 44 626 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1) 31 GAGCTCAGCCGGGCGCCAGCC 0.647000 5 40 3.59834e-05 9.47776e-05 0.001168 1 0 BRINP3 339479 broad.mit.edu 37 1 190067878 190067878 + Missense_Mutation SNP C C A TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr1:190067878C>A ENST00000367462.3 - 8 1802 c.1571G>T c.(1570-1572)tGg>tTg p.W524L FAM5C_ENST00000534846.1_Missense_Mutation_p.W422L|FAM5C_ENST00000484105.1_5'UTR NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 524 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) GGGATCAAACCAGCTATTGAG 0.448000 38 105 2.66277e-13 7.4811e-13 0.006999 1 0 SERPIND1 3053 broad.mit.edu 37 22 21134155 21134155 + Silent SNP C C T TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr22:21134155C>T ENST00000215727.5 + 2 838 c.555C>T c.(553-555)gaC>gaT p.D185D PI4KA_ENST00000255882.6_Intron|SERPIND1_ENST00000406799.1_Silent_p.D185D|PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000466162.1_Intron NM_000185.3 NP_000176.2 P05546 HEP2_HUMAN serpin peptidase inhibitor, clade D (heparin cofactor), member 1 185 blood coagulation|chemotaxis|regulation of proteolysis extracellular region heparin binding|serine-type endopeptidase inhibitor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) Ardeparin(DB00407) ATTTTAAAGACTTTGTTAATG 0.443000 6 121 0 0 0.001168 0 0 DPRX 503834 broad.mit.edu 37 19 54137861 54137861 + Missense_Mutation SNP C C G TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr19:54137861C>G ENST00000376650.1 + 2 156 c.105C>G c.(103-105)ttC>ttG p.F35L NM_001012728.1 NP_001012746.1 A6NFQ7 DPRX_HUMAN divergent-paired related homeobox 35 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(4)|large_intestine(1)|lung(7) 12 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.013) ACATCTTGTTCAATGAGAACC 0.443000 5 69 0 0 0.000602 0 0 ERAS 3266 broad.mit.edu 37 X 48687675 48687675 + Missense_Mutation SNP G G A TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chrX:48687675G>A ENST00000338270.1 + 1 393 c.142G>A c.(142-144)Ggc>Agc p.G48S NM_181532.2 NP_853510.1 Q7Z444 RASE_HUMAN ES cell expressed Ras 48 small GTPase mediated signal transduction intracellular|plasma membrane GTP binding|GTPase activity endometrium(2)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1) 14 TGTGGTGGTGGGCGCCAGTGG 0.642000 4 24 0 0 0.009096 0 0 EP300 2033 broad.mit.edu 37 22 41573889 41573889 + Silent SNP C C G TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr22:41573889C>G ENST00000263253.7 + 31 7393 c.6174C>G c.(6172-6174)ctC>ctG p.L2058L RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 2058 Interaction with HTLV-1 Tax.|Interaction with NCOA2. apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 TGCGGACTCTCAGGTCTCCCA 0.552000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 4 191 0 0 0.009096 0 0 PLD1 5337 broad.mit.edu 37 3 171455813 171455813 + Missense_Mutation SNP T T C TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr3:171455813T>C ENST00000356327.5 - 2 99 c.29A>G c.(28-30)aAt>aGt p.N10S PLD1_ENST00000342215.6_Missense_Mutation_p.N10S|PLD1_ENST00000340989.4_Missense_Mutation_p.N10S|PLD1_ENST00000351298.4_Missense_Mutation_p.N10S NM_001130081.2 NP_001123553.1 Q13393 PLD1_HUMAN phospholipase D1, phosphatidylcholine-specific 10 cell communication|chemotaxis|Ras protein signal transduction endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 63 all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) Choline(DB00122) TGCAGAGGTATTTACCCGTGG 0.433000 17 29 0 0 0.007413 0 0 SMG6 23293 broad.mit.edu 37 17 2202561 2202561 + Missense_Mutation SNP C C T TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr17:2202561C>T ENST00000544865.1 - 2 1903 c.1393G>A c.(1393-1395)Gca>Aca p.A465T SMG6_ENST00000263073.5_Missense_Mutation_p.A496T Q86US8 EST1A_HUMAN SMG6 nonsense mediated mRNA decay factor 496 Interaction with telomeric DNA. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 TAGTAAGATGCCTGAGCCTGG 0.502000 53 207 0 0 0.014410 0 0 BCL9 607 broad.mit.edu 37 1 147091800 147091800 + Silent SNP C C T TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr1:147091800C>T ENST00000234739.3 + 8 2579 c.1839C>T c.(1837-1839)agC>agT p.S613S NM_004326.2 NP_004317.2 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 613 Pro-rich. Wnt receptor signaling pathway nucleus protein binding breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 7 all_hematologic(923;0.115) GCATTTTCAGCGGTCCTGGCC 0.552000 T """IGH@, IGL@""" B-ALL 5 140 0 0 0.001168 0 0 CDC42BPB 9578 broad.mit.edu 37 14 103405977 103405977 + Silent SNP G G A rs150855245 byFrequency TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr14:103405977G>A ENST00000361246.2 - 34 5085 c.4797C>T c.(4795-4797)gaC>gaT p.D1599D NM_006035.3 NP_006026.3 Q9Y5S2 MRCKB_HUMAN CDC42 binding protein kinase beta (DMPK-like) 1599 actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm|cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 49 Melanoma(154;0.155) Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199) CCTGCATGCCGTCGCCTGGGC 0.612000 38 84 0 0 0.004289 0 0 MED20 9477 broad.mit.edu 37 6 41874865 41874865 + Missense_Mutation SNP T T A TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr6:41874865T>A ENST00000265350.4 - 4 664 c.584A>T c.(583-585)gAa>gTa p.E195V MED20_ENST00000467535.1_5'UTR|MED20_ENST00000409312.1_3'UTR NM_004275.3 NP_004266.2 Q9H944 MED20_HUMAN mediator complex subunit 20 195 regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter mediator complex DNA-directed RNA polymerase activity|protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)|pancreas(1) 5 Colorectal(47;0.121) STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000367)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) GTTGAAGAGTTCCATGTACTG 0.572000 37 50 0 0 0.004878 0 0 MAGEC1 9947 broad.mit.edu 37 X 140994100 140994100 + Missense_Mutation SNP C C A TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chrX:140994100C>A ENST00000285879.4 + 4 1196 c.910C>A c.(910-912)Cag>Aag p.Q304K MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 304 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) GTCTCCTCTCCAGATTCCTGT 0.498000 HNSCC(15;0.026) 18 128 6.94344e-10 1.93237e-09 0.006122 1 0 CCDC27 148870 broad.mit.edu 37 1 3669271 3669271 + Missense_Mutation SNP C C T TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr1:3669271C>T ENST00000294600.2 + 1 310 c.226C>T c.(226-228)Cgg>Tgg p.R76W NM_152492.2 NP_689705.2 Q2M243 CCD27_HUMAN coiled-coil domain containing 27 76 breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2) 36 all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218) all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127) Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203) CATGGCCAGCCGGGACGCCCG 0.622000 36 51 0 0 0.013726 0 0 HOXA2 3199 broad.mit.edu 37 7 27140362 27140362 + Nonsense_Mutation SNP G G A TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr7:27140362G>A ENST00000222718.5 - 2 1424 c.1114C>T c.(1114-1116)Cag>Tag p.Q372* NM_006735.3 NP_006726.1 O43364 HXA2_HUMAN homeobox A2 372 nucleus sequence-specific DNA binding transcription factor activity breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1) 22 TTCAGATGCTGCAAGTCGATT 0.403000 12 153 0 0 0.010729 0 0 GNAS 2778 broad.mit.edu 37 20 57415675 57415675 + Missense_Mutation SNP G G A TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr20:57415675G>A ENST00000313949.7 + 1 903 c.514G>A c.(514-516)Gac>Aac p.D172N GNAS_ENST00000371098.2_Missense_Mutation_p.D172N|GNAS-AS1_ENST00000424094.2_RNA|GNAS_ENST00000371075.3_Missense_Mutation_p.D172N|GNAS-AS1_ENST00000443966.1_RNA|GNAS-AS1_ENST00000598163.1_RNA P63092 GNAS2_HUMAN GNAS complex locus 0 activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1) 441 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) GCGAAGCCCCGACGCCTCCCC 0.682000 Mis pituitary adenoma """McCune-Albright syndrome; pseudohypoparathyroidism, type IA""" TSP Lung(22;0.16) 4 33 0 0 0.001168 0 0 SLC8A1 6546 broad.mit.edu 37 2 40366564 40366564 + Missense_Mutation SNP A A G TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr2:40366564A>G ENST00000406785.1 - 7 2603 c.2414T>C c.(2413-2415)gTc>gCc p.V805A SLC8A1_ENST00000332839.4_Missense_Mutation_p.V841A|SLC8A1_ENST00000542024.1_Missense_Mutation_p.V805A|SLC8A1_ENST00000406391.2_Missense_Mutation_p.V805A|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000408028.2_Missense_Mutation_p.V833A|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000405901.3_Missense_Mutation_p.V836A|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000405269.1_Missense_Mutation_p.V805A|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1_ENST00000403092.1_Missense_Mutation_p.V841A|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000402441.1_Missense_Mutation_p.V805A|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000542756.1_Missense_Mutation_p.V836A P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 841 cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) TCCAAGTGCGACGAACACGAC 0.453000 4 40 0 0 0.009096 0 0 DSP 1832 broad.mit.edu 37 6 7581095 7581095 + Missense_Mutation SNP C C T TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr6:7581095C>T ENST00000379802.3 + 23 5013 c.4672C>T c.(4672-4674)Cgg>Tgg p.R1558W DSP_ENST00000418664.2_Intron NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 1558 Central fibrous rod domain. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) GGATATCACGCGGTTCCAGAA 0.517000 16 120 0 0 0.004007 0 0 SOWAHB 345079 broad.mit.edu 37 4 77817552 77817552 + Missense_Mutation SNP G G T TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr4:77817552G>T ENST00000334306.2 - 1 1450 c.1451C>A c.(1450-1452)cCt>cAt p.P484H NM_001029870.1 NP_001025041.1 A6NEL2 ANR56_HUMAN sosondowah ankyrin repeat domain family member B 484 CCAAGGCAAAGGCTTCAGGGG 0.592000 6 152 3.59834e-05 9.47776e-05 0.001168 1 0 TTN 7273 broad.mit.edu 37 2 179640377 179640377 + Missense_Mutation SNP T T G TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr2:179640377T>G ENST00000589042.1 - 28 6438 c.6214A>C c.(6214-6216)Agt>Cgt p.S2072R TTN_ENST00000359218.5_Missense_Mutation_p.S2026R|TTN_ENST00000591111.1_Missense_Mutation_p.S2072R|TTN_ENST00000342992.6_Missense_Mutation_p.S2072R|TTN_ENST00000342175.6_Missense_Mutation_p.S2026R|TTN_ENST00000460472.2_Missense_Mutation_p.S2026R|TTN_ENST00000360870.5_Missense_Mutation_p.S2072R NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1838 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATACTAGGACTTAGTTCAATC 0.458000 10 94 0 0 0.008291 0 0 SH3RF2 153769 broad.mit.edu 37 5 145317757 145317757 + Missense_Mutation SNP G G A TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr5:145317757G>A ENST00000511217.1 + 1 318 c.266G>A c.(265-267)cGc>cAc p.R89H SH3RF2_ENST00000359120.4_Missense_Mutation_p.R89H Q8TEC5 SH3R2_HUMAN SH3 domain containing ring finger 2 89 ligase activity|protein phosphatase 1 binding|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1) 22 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGCTCCTTCCGCAGGCCTGGC 0.617000 16 50 0 0 0.003163 0 0 OR6T1 219874 broad.mit.edu 37 11 123813903 123813903 + Missense_Mutation SNP A A C TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr11:123813903A>C ENST00000321252.2 - 1 677 c.643T>G c.(643-645)Tca>Gca p.S215A NM_001005187.1 NP_001005187.1 Q8NGN1 OR6T1_HUMAN olfactory receptor, family 6, subfamily T, member 1 215 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) TAGGAAACTGAGGTCAGAGCC 0.547000 5 73 0 0 0.000602 0 0 UMOD 7369 broad.mit.edu 37 16 20348693 20348693 + Missense_Mutation SNP G G A TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr16:20348693G>A ENST00000396134.2 - 9 1882 c.1759C>T c.(1759-1761)Cgg>Tgg p.R587W UMOD_ENST00000570331.1_5'UTR|UMOD_ENST00000396138.4_Missense_Mutation_p.R603W|UMOD_ENST00000302509.4_Missense_Mutation_p.R554W|UMOD_ENST00000396142.2_Missense_Mutation_p.R554W|UMOD_ENST00000424589.1_Missense_Mutation_p.R587W|UMOD_ENST00000570689.1_Missense_Mutation_p.R554W NM_001278614.1 NP_001265543.1 P07911 UROM_HUMAN uromodulin 554 ZP. Cleavage. cellular defense response|negative regulation of cell proliferation anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole calcium ion binding endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 CCAGCAAACCGGAACATCTGG 0.517000 12 50 0 0 0.010729 0 0 DNAH5 1767 broad.mit.edu 37 5 13759027 13759027 + Silent SNP G G A rs150773884 by1000genomes TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr5:13759027G>A ENST00000265104.4 - 61 10451 c.10347C>T c.(10345-10347)gcC>gcT p.A3449A NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3449 Stalk (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CATCCAACTCGGCCTGGGCTT 0.552000 Kartagener syndrome 11 174 0 0 0.013537 0 0 ATP9B 374868 broad.mit.edu 37 18 77067094 77067094 + Missense_Mutation SNP G G A TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr18:77067094G>A ENST00000426216.2 + 15 1650 c.1633G>A c.(1633-1635)Gtg>Atg p.V545M ATP9B_ENST00000307671.7_Missense_Mutation_p.V545M NM_198531.3 NP_940933.3 O43861 ATP9B_HUMAN ATPase, class II, type 9B 545 ATP biosynthetic process integral to membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1) 38 Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171) OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405) CCATGAAGCCGTGAAAGCCAT 0.507000 14 50 0 0 0.002450 0 0 SEMG1 6406 broad.mit.edu 37 20 43837052 43837052 + Missense_Mutation SNP C C T TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr20:43837052C>T ENST00000372781.3 + 2 1171 c.1114C>T c.(1114-1116)Cgc>Tgc p.R372C SEMG1_ENST00000244069.6_Missense_Mutation_p.R312C NM_003007.3 NP_002998.1 semenogelin I cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1) 32 Myeloproliferative disorder(115;0.0122) TGTATCCCAACGCAGTATTTA 0.418000 5 34 0 0 0.001168 0 0 TANC2 26115 broad.mit.edu 37 17 61278279 61278279 + Missense_Mutation SNP C C T TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr17:61278279C>T ENST00000424789.2 + 5 512 c.508C>T c.(508-510)Cca>Tca p.P170S AC037445.1_ENST00000581421.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.P170S NM_025185.3 NP_079461.2 Q9HCD6 TANC2_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 170 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3) 44 TGTTACTAGTCCAACCTCTAC 0.443000 22 56 0 0 0.010504 0 0 APOLD1 81575 broad.mit.edu 37 12 12940476 12940476 + Missense_Mutation SNP C C G TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr12:12940476C>G ENST00000356591.4 + 2 722 c.637C>G c.(637-639)Ctg>Gtg p.L213V RP11-59H1.3_ENST00000534843.1_Intron|APOLD1_ENST00000326765.6_Missense_Mutation_p.L244V NM_030817.2 NP_110444.3 Q96LR9 APLD1_HUMAN apolipoprotein L domain containing 1 244 angiogenesis|cell differentiation|lipid transport|lipoprotein metabolic process extracellular region|integral to membrane|plasma membrane lipid binding breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1) 5 Prostate(47;0.0632) BRCA - Breast invasive adenocarcinoma(232;0.0338)|GBM - Glioblastoma multiforme(207;0.149) CACCGGGGCTCTGGACGAACT 0.637000 4 89 0 0 0.009096 0 0 TNRC6B 23112 broad.mit.edu 37 22 40706900 40706900 + Silent SNP T T C TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr22:40706900T>C ENST00000454349.2 + 17 4549 c.4338T>C c.(4336-4338)ggT>ggC p.G1446G TNRC6B_ENST00000335727.8_Silent_p.G1336G|TNRC6B_ENST00000301923.9_Silent_p.G642G|TNRC6B_ENST00000402203.1_Silent_p.G642G NM_001162501.1 NP_001155973.1 Q9UPQ9 TNR6B_HUMAN trinucleotide repeat containing 6B 1446 gene silencing by RNA|regulation of translation cytoplasmic mRNA processing body nucleotide binding|RNA binding breast(1) 1 ACACACTGGGTGGCCATACGG 0.507000 5 41 0 0 0.000602 0 0 UBE3B 89910 broad.mit.edu 37 12 109949049 109949049 + Missense_Mutation SNP G G A TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr12:109949049G>A ENST00000342494.3 + 18 2492 c.1897G>A c.(1897-1899)Gac>Aac p.D633N UBE3B_ENST00000434735.2_Missense_Mutation_p.D633N|UBE3B_ENST00000280774.5_Missense_Mutation_p.D633N|UBE3B_ENST00000535900.1_3'UTR NM_130466.3 NP_569733.2 Q7Z3V4 UBE3B_HUMAN ubiquitin protein ligase E3B 633 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2) 45 ACTCGACAGGGACAGAAAACG 0.478000 3 25 0 0 0.004672 0 0 TSNARE1 203062 broad.mit.edu 37 8 143425673 143425673 + Silent SNP G G A TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr8:143425673G>A ENST00000524325.1 - 4 574 c.399C>T c.(397-399)acC>acT p.T133T TSNARE1_ENST00000520166.1_Silent_p.T133T|TSNARE1_ENST00000307180.3_Silent_p.T133T|TSNARE1_ENST00000519651.1_Intron Q96NA8 TSNA1_HUMAN t-SNARE domain containing 1 133 vesicle-mediated transport integral to membrane breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1) 20 all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) CCAGCACCTCGGTCTCCTGCG 0.682000 5 36 0 0 0.000602 0 0 LRRC37A4P 55073 broad.mit.edu 37 17 43587576 43587576 + RNA SNP A A G rs145439557 by1000genomes TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr17:43587576A>G ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA tctgaaaagaaaagaaaaaaa 0.428000 4 47 0 0 0.009096 0 0 PDLIM5 10611 broad.mit.edu 37 4 95497040 95497040 + Missense_Mutation SNP C C G TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr4:95497040C>G ENST00000317968.4 + 5 701 c.565C>G c.(565-567)Cag>Gag p.Q189E PDLIM5_ENST00000437932.1_Intron|PDLIM5_ENST00000508216.1_Intron|PDLIM5_ENST00000318007.5_Intron|PDLIM5_ENST00000380180.3_Intron|PDLIM5_ENST00000514743.1_Intron|PDLIM5_ENST00000542407.1_Missense_Mutation_p.Q67E|PDLIM5_ENST00000450793.1_Intron|PDLIM5_ENST00000538141.1_Intron NM_001256428.1|NM_006457.4 NP_001243357.1|NP_006448.4 Q96HC4 PDLI5_HUMAN PDZ and LIM domain 5 189 regulation of dendritic spine morphogenesis|regulation of synaptogenesis actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome actin binding|actinin binding|protein kinase C binding|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 22 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.84e-09) TAGTGCTGACCAGTCTCCATC 0.562000 6 98 0 0 0.001168 0 0 LIN28A 79727 broad.mit.edu 37 1 26751818 26751818 + Missense_Mutation SNP C C T TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr1:26751818C>T ENST00000326279.6 + 3 367 c.253C>T c.(253-255)Cgg>Tgg p.R85W LIN28A_ENST00000254231.4_Missense_Mutation_p.R85W NM_024674.4 NP_078950.1 Q9H9Z2 LN28A_HUMAN lin-28 homolog A (C. elegans) 85 CSD. miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing|stem cell maintenance cytoplasmic mRNA processing body|nucleolus|stress granule DNA binding|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2) 8 GGAAGGGTTCCGGAGCTTGAA 0.448000 6 81 0 0 0.001168 0 0 ZNF367 195828 broad.mit.edu 37 9 99150590 99150590 + Missense_Mutation SNP G G A TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr9:99150590G>A ENST00000375256.4 - 5 1278 c.982C>T c.(982-984)Cgg>Tgg p.R328W NM_153695.3 NP_710162.1 Q7RTV3 ZN367_HUMAN zinc finger protein 367 328 regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(1)|endometrium(4)|large_intestine(3)|lung(3)|prostate(1) 12 Acute lymphoblastic leukemia(62;0.0167) AGGCGCTCCCGCTGCTCCTGC 0.602000 9 58 0 0 0.004482 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110477062 110477062 + Silent SNP C C T TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr8:110477062C>T ENST00000378402.5 + 49 8105 c.8001C>T c.(7999-8001)gcC>gcT p.A2667A NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 2667 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) ATGGAGGTGCCCTTCAGTTCC 0.443000 HNSCC(38;0.096) 11 80 0 0 0.008291 0 0 LRRC37A4P 55073 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 3 44 0 0 0.004672 0 0 RCC2 55920 broad.mit.edu 37 1 17747311 17747311 + Frame_Shift_Del DEL C C - TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr1:17747311delC ENST00000375436.4 - 7 945 c.758delG c.(757-759)gcfs p.G253fs RCC2_ENST00000375433.3_Frame_Shift_Del_p.G253fs NM_018715.3 NP_061185.1 Q9P258 RCC2_HUMAN regulator of chromosome condensation 2 253 cell division|mitotic prometaphase chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4) 17 Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19) AATTGGCTGGCCGTTGTACAT 0.413 7 65 --- --- --- --- CCDC30 728621 broad.mit.edu 37 1 43002200 43002201 + Frame_Shift_Del DEL AG AG - TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr1:43002200_43002201delAG ENST00000428554.2 + 9 1188_1189 c.45_46delAG c.(43-48)aaagfs p.KE15fs CCDC30_ENST00000507855.1_Intron|CCDC30_ENST00000340612.4_Frame_Shift_Del_p.KE15fs|CCDC30_ENST00000342022.4_Frame_Shift_Del_p.KE15fs Q5VVM6 CCD30_HUMAN coiled-coil domain containing 30 15 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2) 30 AGTGGTCAAAAGAGAGAGAGAG 0.356 10 72 --- --- --- --- ADAM15 8751 broad.mit.edu 37 1 155030138 155030139 + Frame_Shift_Ins INS - - T TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr1:155030138_155030139insT ENST00000356955.2 + 13 1450_1451 c.1349_1350insT c.(1348-1350)tttfs p.F450fs ADAM15_ENST00000449910.2_Frame_Shift_Ins_p.F450fs|ADAM15_ENST00000447332.3_Frame_Shift_Ins_p.F434fs|ADAM15_ENST00000368412.3_Frame_Shift_Ins_p.F450fs|ADAM15_ENST00000368413.1_Frame_Shift_Ins_p.F156fs|ADAM15_ENST00000531455.1_Frame_Shift_Ins_p.F460fs|ADAM15_ENST00000359280.4_Frame_Shift_Ins_p.F450fs|ADAM15_ENST00000360674.4_Frame_Shift_Ins_p.F450fs|ADAM15_ENST00000368410.2_Frame_Shift_Ins_p.F156fs|ADAM15_ENST00000271836.6_Frame_Shift_Ins_p.F450fs|ADAM15_ENST00000355956.2_Frame_Shift_Ins_p.F450fs|ADAM15_ENST00000472434.1_3'UTR NM_207197.2 NP_997080.1 Q13444 ADA15_HUMAN ADAM metallopeptidase domain 15 450 Disintegrin. angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1) 39 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) TGCTGTGATTCTTTGACCTGCC 0.619 80 169 --- --- --- --- SLAMF1 6504 broad.mit.edu 37 1 160589601 160589601 + Frame_Shift_Del DEL T T - TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr1:160589601delT ENST00000302035.6 - 5 1178 c.829delA c.(829-831)gcfs p.S277fs SLAMF1_ENST00000235739.5_Frame_Shift_Del_p.S247fs|SLAMF1_ENST00000355199.3_Frame_Shift_Del_p.S277fs|SLAMF1_ENST00000538290.1_Intron NM_003037.2 NP_003028.1 Q13291 SLAF1_HUMAN signaling lymphocytic activation molecule family member 1 277 interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation integral to membrane antigen binding|transmembrane receptor activity breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_cancers(52;4.94e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) ATCGTAAGGCTTTTTTTTTCC 0.433 8 183 --- --- --- --- BRINP2 57795 broad.mit.edu 37 1 177249666 177249666 + Frame_Shift_Del DEL T T - TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr1:177249666delT ENST00000361539.4 + 8 1666 c.1354delT c.(1354-1356)gcfs p.C452fs FAM5B_ENST00000478325.1_3'UTR NM_021165.2 NP_066988.1 Q9C0B6 FAM5B_HUMAN 452 extracellular region breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 94 CCAATCTTCCTGCCAGGGCCC 0.607 17 39 --- --- --- --- ZNF804A 91752 broad.mit.edu 37 2 185801896 185801896 + Frame_Shift_Del DEL T T - TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr2:185801896delT ENST00000302277.6 + 4 2367 c.1773delT c.(1771-1773)cafs p.H591fs NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 591 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 ACTGGTTCCATAAAAGTAGAA 0.308 15 84 --- --- --- --- ALPP 250 broad.mit.edu 37 2 233243529 233243531 + In_Frame_Del DEL TGC TGC - TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr2:233243529_233243531delTGC ENST00000392027.2 + 1 286_288 c.17_19delTGC c.(16-21)atg>a p.ML6del NM_001632.3 NP_001623.3 P05187 PPB1_HUMAN alkaline phosphatase, placental 6 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) GGGCCCTGCAtgctgctgctgct 0.616 8 103 --- --- --- --- KCNG2 26251 broad.mit.edu 37 18 77623691 77623692 + In_Frame_Ins INS - - GGC rs71338073 TCGA-ER-A2NB-01A-12D-A196-08 TCGA-ER-A2NB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d5f98d-c677-482d-b00d-24946ad60a25 926ae523-c8bc-43ff-bd68-77b01d7cacc3 g.chr18:77623691_77623692insGGC ENST00000316249.3 + 1 24_25 c.24_25insGGC c.(22-27)ccgcgg>ccGGCgcgg p.8_9PR>PAR NM_012283.1 NP_036415.1 Q9UJ96 KCNG2_HUMAN potassium voltage-gated channel, subfamily G, member 2 8 energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion voltage-gated potassium channel complex delayed rectifier potassium channel activity p.P8_G9insG(2) breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4) 18 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244) CCTGCTccccgggcggcggcgg 0.772 4 5 --- --- --- ---