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 POGZ 23126 broad.mit.edu 37 1 151396447 151396447 + Missense_Mutation SNP T T G TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr1:151396447T>G ENST00000271715.2 - 9 1815 c.1501A>C c.(1501-1503)Aaa>Caa p.K501Q POGZ_ENST00000409503.1_Missense_Mutation_p.K492Q|POGZ_ENST00000491586.1_Missense_Mutation_p.K448Q|POGZ_ENST00000392723.1_Missense_Mutation_p.K448Q|POGZ_ENST00000540984.1_Intron|POGZ_ENST00000361398.3_Missense_Mutation_p.K448Q|POGZ_ENST00000531094.1_Missense_Mutation_p.K439Q|POGZ_ENST00000368863.2_Missense_Mutation_p.K406Q NM_001194937.1|NM_015100.3 NP_001181866.1|NP_055915.2 Q7Z3K3 POGZ_HUMAN pogo transposable element with ZNF domain 501 cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent cytoplasm|nuclear chromatin DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 47 Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) TTTAGCCTTTTGGTACAATGT 0.398000 21 100 0 0 0.014323 0 0 HJURP 55355 broad.mit.edu 37 2 234750609 234750609 + Missense_Mutation SNP G G A TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr2:234750609G>A ENST00000411486.2 - 8 882 c.817C>T c.(817-819)Cgg>Tgg p.R273W HJURP_ENST00000434039.1_5'UTR|HJURP_ENST00000441687.1_Missense_Mutation_p.R188W|HJURP_ENST00000432087.1_Missense_Mutation_p.R219W NM_018410.3 NP_060880.3 Q8NCD3 HJURP_HUMAN Holliday junction recognition protein 273 cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm DNA binding|histone binding NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128) Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829) CTCAACAGCCGGCTCATGGAG 0.493000 91 34 0 0 0.014410 0 0 IGF2R 3482 broad.mit.edu 37 6 160501173 160501173 + Missense_Mutation SNP G G A TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr6:160501173G>A ENST00000356956.1 + 39 5847 c.5699G>A c.(5698-5700)gGc>gAc p.G1900D NM_000876.2 NP_000867.2 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor 1900 Fibronectin type-II. receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) ACCGATGACGGCGTCCCCTGT 0.532000 35 105 0 0 0.004289 0 0 ALDH18A1 5832 broad.mit.edu 37 10 97393334 97393334 + Missense_Mutation SNP G G A TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr10:97393334G>A ENST00000371224.2 - 6 768 c.631C>T c.(631-633)Ctt>Ttt p.L211F ALDH18A1_ENST00000371221.3_Missense_Mutation_p.L211F NM_002860.3 NP_002851.2 P54886 P5CS_HUMAN aldehyde dehydrogenase 18 family, member A1 211 Glutamate 5-kinase. proline biosynthetic process mitochondrial inner membrane ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Colorectal(252;0.0402) Epithelial(162;9.1e-07)|all cancers(201;2.55e-05) L-Glutamic Acid(DB00142) TTCATTCTAAGGAGTTCATGA 0.438000 38 77 0 0 0.005524 0 0 C1orf198 84886 broad.mit.edu 37 1 230979330 230979330 + Missense_Mutation SNP G G A TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr1:230979330G>A ENST00000366663.5 - 3 837 c.697C>T c.(697-699)Cct>Tct p.P233S C1orf198_ENST00000427697.2_Missense_Mutation_p.P16S|C1orf198_ENST00000523410.1_Missense_Mutation_p.P103S|C1orf198_ENST00000470540.1_Missense_Mutation_p.P195S NM_032800.2 NP_116189.1 Q9H425 CA198_HUMAN chromosome 1 open reading frame 198 233 breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 17 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.178) TTCGGGGCAGGTTCCTGCCGG 0.637000 19 101 0 0 0.010504 0 0 CYP2B7P 1556 broad.mit.edu 37 19 41454981 41454981 + RNA SNP G G A TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr19:41454981G>A ENST00000599198.1 + 0 1372 NR_001278.1 NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1) 12 TCTTGGTGAAGGCATTGCCCG 0.577000 5 36 0 0 0.001168 0 0 BAIAP3 8938 broad.mit.edu 37 16 1392990 1392990 + Missense_Mutation SNP A A G TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr16:1392990A>G ENST00000324385.5 + 14 1501 c.1343A>G c.(1342-1344)aAc>aGc p.N448S BAIAP3_ENST00000421665.2_Missense_Mutation_p.N377S|BAIAP3_ENST00000568887.1_Missense_Mutation_p.N385S|BAIAP3_ENST00000397489.1_Missense_Mutation_p.N430S|BAIAP3_ENST00000426824.3_Missense_Mutation_p.N413S|BAIAP3_ENST00000397488.2_Missense_Mutation_p.N430S|BAIAP3_ENST00000562208.1_Missense_Mutation_p.N390S NM_003933.4 NP_003924.2 O94812 BAIP3_HUMAN BAI1-associated protein 3 448 G-protein coupled receptor protein signaling pathway|neurotransmitter secretion protein C-terminus binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 Hepatocellular(780;0.0893) GCCCAGAGCAACCTGTCACCC 0.687000 23 45 0 0 0.004656 0 0 CCDC88B 283234 broad.mit.edu 37 11 64112234 64112234 + Missense_Mutation SNP G G A TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr11:64112234G>A ENST00000356786.5 + 14 2265 c.2221G>A c.(2221-2223)Gct>Act p.A741T CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_De_novo_Start_InFrame NM_032251.5 NP_115627.6 A6NC98 CC88B_HUMAN coiled-coil domain containing 88B 741 microtubule cytoskeleton organization cytoplasm microtubule binding endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GAGGAGAAAGGCTGAGGCCCT 0.662000 23 23 0 0 0.014323 0 0 AKAP4 8852 broad.mit.edu 37 X 49958737 49958737 + Missense_Mutation SNP A A C TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chrX:49958737A>C ENST00000376056.2 - 5 750 c.600T>G c.(598-600)gaT>gaG p.D200E AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000358526.2_Missense_Mutation_p.D209E|AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000376064.3_Missense_Mutation_p.D200E Q5JQC9 AKAP4_HUMAN A kinase (PRKA) anchor protein 4 209 cell projection organization|single fertilization|sperm motility cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum protein kinase A binding NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4) 41 Ovarian(276;0.236) AACATTCTCCATCAGGGGAAA 0.443000 150 58 0 0 0.014410 0 0 TADA3 10474 broad.mit.edu 37 3 9831606 9831606 + Silent SNP G G A TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr3:9831606G>A ENST00000343450.2 - 3 796 c.249C>T c.(247-249)ttC>ttT p.F83F TADA3_ENST00000301964.2_Silent_p.F83F|TADA3_ENST00000440161.1_Silent_p.F83F|TADA3_ENST00000492635.1_5'UTR NM_133480.1 NP_597814.1 O75528 TADA3_HUMAN transcriptional adaptor 3 83 estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1) 16 CCAGCTTCAGGAATCGTCTGT 0.522000 43 20 0 0 0.013114 0 0 MYO1A 4640 broad.mit.edu 37 12 57424845 57424845 + Silent SNP C C T TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr12:57424845C>T ENST00000442789.2 - 24 2750 c.2463G>A c.(2461-2463)caG>caA p.Q821Q MYO1A_ENST00000544473.1_Silent_p.Q659Q|MYO1A_ENST00000300119.3_Silent_p.Q821Q NM_001256041.1 NP_001242970.1 Q9UBC5 MYO1A_HUMAN myosin IA 821 sensory perception of sound|vesicle localization brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3) 50 AGAAGAGCTGCTGCAGCTCCT 0.532000 37 49 0 0 0.006230 0 0 PPP1R3D 5509 broad.mit.edu 37 20 58514314 58514314 + Missense_Mutation SNP C C T TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr20:58514314C>T ENST00000370996.3 - 1 1038 c.673G>A c.(673-675)Ggg>Agg p.G225R FAM217B_ENST00000358293.3_Intron NM_006242.3 NP_006233.1 O95685 PPR3D_HUMAN protein phosphatase 1, regulatory subunit 3D 225 CBM21. glycogen metabolic process protein binding|protein serine/threonine phosphatase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|urinary_tract(1) 13 all_lung(29;0.00391) BRCA - Breast invasive adenocarcinoma(7;5.12e-09) CCTGCGGGCCCGCGCCACCGC 0.692000 13 60 0 0 0.003163 0 0 ZNF845 91664 broad.mit.edu 37 19 53856702 53856702 + Missense_Mutation SNP G G A rs150688663 by1000genomes TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr19:53856702G>A ENST00000458035.1 + 4 2891 c.2774G>A c.(2773-2775)cGt>cAt p.R925H ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 925 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R925H(3) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 AAAACCTTCCGTCACAATTCA 0.363000 3 37 0 0 0.009096 0 0 KRTAP4-7 100132476 broad.mit.edu 37 17 39240661 39240661 + Missense_Mutation SNP C C G rs11650484 by1000genomes TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr17:39240661C>G ENST00000391417.4 + 1 203 c.203C>G c.(202-204)aCc>aGc p.T68S NM_033061.3 NP_149050.3 keratin associated protein 4-7 NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1) 9 TGTCGCCCCACCTGCTGTGAG 0.657000 5 64 0 0 0.008291 0 0 TRPM2 7226 broad.mit.edu 37 21 45802618 45802618 + Silent SNP G G A TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr21:45802618G>A ENST00000397928.1 + 9 1678 c.1233G>A c.(1231-1233)cgG>cgA p.R411R TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Silent_p.R411R|TRPM2_ENST00000300482.5_Silent_p.R411R|TRPM2_ENST00000397932.2_Silent_p.R411R NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 411 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 ATATCGTCCGGAGGCGGCAGC 0.562000 16 19 0 0 0.004007 0 0 RERE 473 broad.mit.edu 37 1 8420556 8420556 + Missense_Mutation SNP G G A TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr1:8420556G>A ENST00000337907.3 - 19 3645 c.3011C>T c.(3010-3012)cCc>cTc p.P1004L RERE_ENST00000476556.1_Missense_Mutation_p.P450L|RERE_ENST00000400907.2_Intron|RERE_ENST00000400908.2_Missense_Mutation_p.P1004L|RERE_ENST00000377464.1_Missense_Mutation_p.P736L NM_012102.3 NP_036234.3 Q9P2R6 RERE_HUMAN arginine-glutamic acid dipeptide (RE) repeats 1004 Pro-rich. multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) CAGCCCGGGGGGCTGGGCGGG 0.721000 10 3 0 0 0.006214 0 0 KRTAP4-7 100132476 broad.mit.edu 37 17 39240627 39240627 + Missense_Mutation SNP T T C rs139671425 by1000genomes TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr17:39240627T>C ENST00000391417.4 + 1 169 c.169T>C c.(169-171)Tct>Cct p.S57P NM_033061.3 NP_149050.3 keratin associated protein 4-7 p.S57P(4) NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1) 9 GTGCTGCCAGTCTGTGTGCTG 0.667000 6 77 0 0 0.013537 0 0 SCAI 286205 broad.mit.edu 37 9 127762264 127762264 + Missense_Mutation SNP A A G TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr9:127762264A>G ENST00000336505.5 - 13 1208 c.1150T>C c.(1150-1152)Tat>Cat p.Y384H SCAI_ENST00000487795.1_5'UTR|SCAI_ENST00000373549.4_Missense_Mutation_p.Y407H NM_001144877.2 NP_001138349.1 Q8N9R8 SCAI_HUMAN suppressor of cancer cell invasion 384 negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|integral to membrane|nucleus protein binding|transcription corepressor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1) 35 CCAAAATCATAAGGACCTATA 0.378000 31 139 0 0 0.010818 0 0 OR10R2 343406 broad.mit.edu 37 1 158449791 158449791 + Missense_Mutation SNP G G A TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr1:158449791G>A ENST00000368152.1 + 1 124 c.124G>A c.(124-126)Gaa>Aaa p.E42K RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA NM_001004472.1 NP_001004472.1 Q8NGX6 O10R2_HUMAN olfactory receptor, family 10, subfamily R, member 2 42 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 41 all_hematologic(112;0.0378) CAGCCTTGGTGAAATTCAGCT 0.423000 67 107 0 0 0.014410 0 0 PGC 5225 broad.mit.edu 37 6 41712139 41712139 + Silent SNP G G A TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr6:41712139G>A ENST00000373025.3 - 3 386 c.324C>T c.(322-324)gcC>gcT p.A108A PGC_ENST00000425343.2_Silent_p.A108A NM_002630.3 NP_002621.1 P20142 PEPC_HUMAN progastricsin (pepsinogen C) 108 digestion|proteolysis extracellular space aspartic-type endopeptidase activity endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1) 16 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507) ACTCACTGCAGGCCTGGCTCT 0.612000 71 70 0 0 0.014410 0 0 PDGFRL 5157 broad.mit.edu 37 8 17447069 17447069 + Missense_Mutation SNP C C T TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr8:17447069C>T ENST00000541323.1 + 3 593 c.148C>T c.(148-150)Cct>Tct p.P50S PDGFRL_ENST00000398074.3_Missense_Mutation_p.P50S|PDGFRL_ENST00000251630.6_Missense_Mutation_p.P50S NM_006207.2 NP_006198.1 Q15198 PGFRL_HUMAN platelet-derived growth factor receptor-like 50 extracellular region platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5) 9 Colorectal(111;0.0752) GCCCAAAATTCCTAAAATGAA 0.468000 114 34 0 0 0.014410 0 0 TNC 3371 broad.mit.edu 37 9 117848377 117848377 + Missense_Mutation SNP C C T TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr9:117848377C>T ENST00000350763.4 - 3 2044 c.1633G>A c.(1633-1635)Ggg>Agg p.G545R TNC_ENST00000341037.4_Missense_Mutation_p.G545R|TNC_ENST00000542877.1_Missense_Mutation_p.G545R|TNC_ENST00000340094.3_Missense_Mutation_p.G545R|TNC_ENST00000345230.3_Missense_Mutation_p.G545R|TNC_ENST00000535648.1_Missense_Mutation_p.G545R|TNC_ENST00000537320.1_Missense_Mutation_p.G545R|TNC_ENST00000346706.3_Missense_Mutation_p.G545R|TNC_ENST00000423613.2_Missense_Mutation_p.G545R NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 545 EGF-like 13. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 ACGCACTGCCCATTCACACAG 0.592000 21 42 0 0 0.010504 0 0 FOSL2 2355 broad.mit.edu 37 2 28627176 28627176 + Missense_Mutation SNP T T G TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr2:28627176T>G ENST00000264716.4 + 2 1168 c.305T>G c.(304-306)gTg>gGg p.V102G FOSL2_ENST00000460736.1_3'UTR|FOSL2_ENST00000379619.1_Missense_Mutation_p.V77G|FOSL2_ENST00000545753.1_Missense_Mutation_p.V63G NM_005253.3 NP_005244.1 P15408 FOSL2_HUMAN FOS-like antigen 2 102 cell death|regulation of transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 14 Acute lymphoblastic leukemia(172;0.155) AGACCTGGCGTGATCAAGACC 0.637000 35 136 0 0 0.006230 0 0 ACAD10 80724 broad.mit.edu 37 12 112182552 112182552 + Missense_Mutation SNP A A T TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr12:112182552A>T ENST00000455480.2 + 14 2090 c.1913A>T c.(1912-1914)gAg>gTg p.E638V ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000392636.2_Missense_Mutation_p.E209V|ACAD10_ENST00000313698.4_Missense_Mutation_p.E607V|ACAD10_ENST00000549590.1_Missense_Mutation_p.E607V NM_001136538.1 NP_001130010.1 Q6JQN1 ACD10_HUMAN acyl-CoA dehydrogenase family, member 10 607 acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5) 47 GTTTTCAAAGAGATGCCCTTC 0.537000 19 50 0 0 0.007413 0 0 ARHGEF15 22899 broad.mit.edu 37 17 8215734 8215734 + Nonsense_Mutation SNP C C A TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr17:8215734C>A ENST00000361926.3 + 2 487 c.377C>A c.(376-378)tCa>tAa p.S126* ARHGEF15_ENST00000421050.1_Nonsense_Mutation_p.S126* NM_173728.3 NP_776089.2 O94989 ARHGF_HUMAN Rho guanine nucleotide exchange factor (GEF) 15 126 Pro-rich. negative regulation of synapse maturation|regulation of Rho protein signal transduction dendrite|intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1) 37 CCGTCTGGGTCACCCTGCACG 0.672000 21 184 8.10497e-08 9.39223e-08 0.010504 1 0 NYAP1 222950 broad.mit.edu 37 7 100086290 100086290 + Missense_Mutation SNP A A G TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr7:100086290A>G ENST00000423930.1 + 4 1105 c.946A>G c.(946-948)Acc>Gcc p.T316A NYAP1_ENST00000300179.2_Missense_Mutation_p.T316A|NYAP1_ENST00000454988.1_Missense_Mutation_p.T259A Q6ZVC0 CG051_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 316 Pro-rich. CGGGACGCCCACCAAGACCAC 0.672000 28 146 0 0 0.012213 0 0 ZRSR1 7310 broad.mit.edu 37 5 112227799 112227799 + Missense_Mutation SNP A A G rs712665 by1000genomes TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr5:112227799A>G ENST00000391338.1 + 1 487 c.463A>G c.(463-465)Agt>Ggt p.S155G REEP5_ENST00000379638.4_Intron|REEP5_ENST00000474542.2_Intron|REEP5_ENST00000513339.1_Intron|REEP5_ENST00000545426.1_Intron|REEP5_ENST00000504247.1_Intron|SRP19_ENST00000512790.1_3'UTR NM_001204199.1 NP_001191128.1 zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 1 breast(1)|skin(1)|stomach(2) 4 TTTAGAAAATAGTACCACATG 0.433000 4 56 0 0 0.000602 0 0 ELAVL2 1993 broad.mit.edu 37 9 23692762 23692762 + Silent SNP G G A TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr9:23692762G>A ENST00000397312.2 - 7 1147 c.873C>T c.(871-873)atC>atT p.I291I ELAVL2_ENST00000380110.4_Silent_p.I321I|ELAVL2_ENST00000223951.6_Silent_p.I278I|ELAVL2_ENST00000380117.1_Silent_p.I291I|ELAVL2_ENST00000544538.1_Silent_p.I291I NM_004432.3 NP_004423.2 Q12926 ELAV2_HUMAN ELAV like neuron-specific RNA binding protein 2 291 RRM 3. regulation of transcription, DNA-dependent mRNA 3'-UTR binding|nucleotide binding|protein binding breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 39 GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19) TTTGCCACAGGATACTCTCAT 0.458000 67 23 0 0 0.014410 0 0 PABPC1 26986 broad.mit.edu 37 8 101717163 101717163 + Silent SNP G G A TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr8:101717163G>A ENST00000318607.5 - 13 2937 c.1809C>T c.(1807-1809)ctC>ctT p.L603L PABPC1_ENST00000519004.1_Silent_p.L558L|PABPC1_ENST00000522387.1_Silent_p.L571L NM_002568.3 NP_002559.2 P11940 PABP1_HUMAN poly(A) binding protein, cytoplasmic 1 603 PABC. mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation catalytic step 2 spliceosome|cytosol nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1) 40 all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206) CCTTAGAACGGAGTGACTCTG 0.393000 54 90 0 0 0.014410 0 0 FBRS 64319 broad.mit.edu 37 16 30680186 30680186 + Missense_Mutation SNP C C T TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr16:30680186C>T ENST00000356166.6 + 17 3340 c.2252C>T c.(2251-2253)cCt>cTt p.P751L FBRS_ENST00000395073.2_Missense_Mutation_p.P143L|FBRS_ENST00000287468.5_Missense_Mutation_p.P231L|FBRS_ENST00000568722.1_Missense_Mutation_p.P143L Q9HAH7 FBRS_HUMAN fibrosin 231 ovary(1) 1 Colorectal(24;0.103) CACCGCAGTCCTCTGACCTTT 0.701000 11 12 0 0 0.010729 0 0 TRPM6 140803 broad.mit.edu 37 9 77370293 77370293 + Missense_Mutation SNP T T C TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr9:77370293T>C ENST00000451710.3 - 28 5119 c.4882A>G c.(4882-4884)Aca>Gca p.T1628A TRPM6_ENST00000449912.2_Missense_Mutation_p.T1623A|TRPM6_ENST00000376864.4_Missense_Mutation_p.T1628A|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.T1623A|TRPM6_ENST00000360774.1_Missense_Mutation_p.T1628A|TRPM6_ENST00000376872.3_Missense_Mutation_p.T579A Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 1628 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 TTGGACACTGTGAACCAGTTC 0.458000 30 126 0 0 0.012213 0 0 PPARGC1B 133522 broad.mit.edu 37 5 149206305 149206305 + Missense_Mutation SNP G G A TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr5:149206305G>A ENST00000309241.5 + 3 354 c.322G>A c.(322-324)Gtg>Atg p.V108M PPARGC1B_ENST00000360453.4_Missense_Mutation_p.V108M|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.V108M|PPARGC1B_ENST00000403750.1_Missense_Mutation_p.V83M NM_133263.3 NP_573570.3 Q86YN6 PRGC2_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 beta 108 estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter mediator complex AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) TGAAGATGACGTGGGTCTGGC 0.622000 38 41 0 0 0.004878 0 0 NKX2-3 159296 broad.mit.edu 37 10 101293025 101293025 + Missense_Mutation SNP T T G TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr10:101293025T>G ENST00000344586.7 + 1 336 c.137T>G c.(136-138)aTg>aGg p.M46R NM_145285.2 NP_660328.2 Q8TAU0 NKX23_HUMAN NK2 homeobox 3 46 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 5 Colorectal(252;0.234) Epithelial(162;4.72e-10)|all cancers(201;3.45e-08) GCGCCCTGCATGCTGGCCGCC 0.572000 7 30 0 0 0.003080 0 0 SUGP2 10147 broad.mit.edu 37 19 19121075 19121075 + Missense_Mutation SNP T T C TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr19:19121075T>C ENST00000601879.1 - 5 2224 c.1927A>G c.(1927-1929)Aac>Gac p.N643D SUGP2_ENST00000452918.2_Missense_Mutation_p.N643D|SUGP2_ENST00000337018.6_Missense_Mutation_p.N643D|SUGP2_ENST00000600377.1_Missense_Mutation_p.N657D|SUGP2_ENST00000456085.2_Missense_Mutation_p.N412D Q8IX01 SUGP2_HUMAN SURP and G patch domain containing 2 643 mRNA processing|RNA splicing nucleus RNA binding NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 CCTCGCAAGTTCTCGCTCATC 0.488000 62 283 0 0 0.014410 0 0 MAGEC1 9947 broad.mit.edu 37 X 140994526 140994526 + Missense_Mutation SNP C C T TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chrX:140994526C>T ENST00000285879.4 + 4 1622 c.1336C>T c.(1336-1338)Cct>Tct p.P446S MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 446 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) TCTCCAGATTCCTGTGAGCTC 0.463000 HNSCC(15;0.026) 139 140 0 0 0.014410 0 0 PSG1 5669 broad.mit.edu 37 19 43372258 43372258 + Missense_Mutation SNP A A G TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr19:43372258A>G ENST00000244296.2 - 5 1375 c.1238T>C c.(1237-1239)gTc>gCc p.V413A PSG1_ENST00000595356.1_Missense_Mutation_p.V413A|PSG1_ENST00000312439.6_Missense_Mutation_p.V413A|PSG1_ENST00000436291.2_Missense_Mutation_p.V413A|PSG1_ENST00000403380.3_Missense_Mutation_p.V320A|PSG1_ENST00000595124.1_Missense_Mutation_p.V320A NM_006905.2 NP_008836.2 pregnancy specific beta-1-glycoprotein 1 breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 Prostate(69;0.00682) CTTACCAGAGACTTCGACTGT 0.463000 98 336 0 0 0.014410 0 0 PCDHGA11 56105 broad.mit.edu 37 5 140801461 140801461 + Nonsense_Mutation SNP C C T TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr5:140801461C>T ENST00000398587.2 + 1 700 c.667C>T c.(667-669)Cga>Tga p.R223* PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000518882.1_Nonsense_Mutation_p.R223*|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB6_ENST00000520790.1_Intron NM_018914.2|NM_032092.1 NP_061737.1|NP_114481.1 breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGATCCCATCCGAAAGGGCGC 0.522000 44 24 0 0 0.008740 0 0 S100A7L2 645922 broad.mit.edu 37 1 153410686 153410686 + Silent SNP G G A TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr1:153410686G>A ENST00000368725.2 - 2 152 c.153C>T c.(151-153)ttC>ttT p.F51F NM_001045479.1 NP_001038944.2 S100 calcium binding protein A7-like 2 NS(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1) 8 all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) GGAAGTTGGGGAAGTTCTCCT 0.507000 25 49 0 0 0.007291 0 0 IMP4 92856 broad.mit.edu 37 2 131103834 131103834 + Silent SNP C C T TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr2:131103834C>T ENST00000259239.3 + 8 1458 c.750C>T c.(748-750)cgC>cgT p.R250R IMP4_ENST00000409935.1_Intron NM_033416.1 NP_219484.1 Q96G21 IMP4_HUMAN IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast) 250 Brix. rRNA processing|translation nucleolus|ribonucleoprotein complex aminoacyl-tRNA ligase activity|ATP binding|protein binding central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1) 18 Colorectal(110;0.1) TCGGGCCCCGCTTTGAGCTGA 0.617000 13 32 0 0 0.003163 0 0 PLEKHA8 84725 broad.mit.edu 37 7 30094403 30094403 + Missense_Mutation SNP A A G TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr7:30094403A>G ENST00000449726.1 + 8 1225 c.875A>G c.(874-876)gAc>gGc p.D292G PLEKHA8_ENST00000258679.7_Missense_Mutation_p.D292G|PLEKHA8_ENST00000396259.1_Missense_Mutation_p.D292G|PLEKHA8_ENST00000396257.2_Missense_Mutation_p.D292G NM_001197027.1 NP_001183956.1 Q96JA3 PKHA8_HUMAN pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8 292 protein transport cytoplasm glycolipid binding|glycolipid transporter activity breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1) 17 TCTGGATCAGACTCAAGTTGC 0.388000 39 123 0 0 0.006230 0 0 GUCY2D 3000 broad.mit.edu 37 17 7918671 7918671 + Missense_Mutation SNP T T G TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr17:7918671T>G ENST00000254854.4 + 15 2945 c.2795T>G c.(2794-2796)aTg>aGg p.M932R NM_000180.3 NP_000171.1 Q02846 GUC2D_HUMAN guanylate cyclase 2D, membrane (retina-specific) 932 Guanylate cyclase. intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity skin(1) 1 Prostate(122;0.157) GACGCCTATATGGTGGCCTCG 0.577000 38 45 0 0 0.009718 0 0 FCRL3 115352 broad.mit.edu 37 1 157650538 157650538 + Silent SNP C C T TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr1:157650538C>T ENST00000368184.3 - 13 2271 c.1980G>A c.(1978-1980)ccG>ccA p.P660P FCRL3_ENST00000368186.5_Silent_p.P660P|FCRL3_ENST00000473231.1_5'UTR NM_052939.3 NP_443171.2 Q96P31 FCRL3_HUMAN Fc receptor-like 3 660 P -> L (in dbSNP:rs944627). integral to membrane|plasma membrane receptor activity autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2) 69 all_hematologic(112;0.0378) GGGAATAAATCGGGTTGCTAT 0.413000 46 88 0 0 0.014410 0 0 FREM1 158326 broad.mit.edu 37 9 14824925 14824925 + Silent SNP C C T TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr9:14824925C>T ENST00000380881.4 - 12 2765 c.1950G>A c.(1948-1950)cgG>cgA p.R650R FREM1_ENST00000380880.3_Silent_p.R649R|FREM1_ENST00000422223.2_Silent_p.R649R Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 649 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) CAACCAAATGCCGAGAAACTC 0.393000 21 16 0 0 0.012319 0 0 ZNF536 9745 broad.mit.edu 37 19 31038958 31038958 + Missense_Mutation SNP C C T TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr19:31038958C>T ENST00000355537.3 + 4 2579 c.2432C>T c.(2431-2433)cCg>cTg p.P811L NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 811 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) GGGGCTGGGCCGCTGTCTGGG 0.567000 64 30 0 0 0.014410 0 0 REV3L 5980 broad.mit.edu 37 6 111695074 111695074 + Missense_Mutation SNP G G A TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr6:111695074G>A ENST00000435970.1 - 15 5066 c.4250C>T c.(4249-4251)tCg>tTg p.S1417L REV3L_ENST00000368802.3_Missense_Mutation_p.S1495L|REV3L_ENST00000368805.1_Missense_Mutation_p.S1495L|REV3L_ENST00000358835.3_Missense_Mutation_p.S1495L O60673 DPOLZ_HUMAN REV3-like, polymerase (DNA directed), zeta, catalytic subunit 1495 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) TTCTGATAACGACCTCGGTTT 0.388000 DNA polymerases (catalytic subunits) 36 122 0 0 0.003755 0 0 DTX1 1840 broad.mit.edu 37 12 113515335 113515335 + Missense_Mutation SNP T T G TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr12:113515335T>G ENST00000257600.3 + 2 869 c.366T>G c.(364-366)gaT>gaG p.D122E NM_004416.2 NP_004407.2 Q86Y01 DTX1_HUMAN deltex homolog 1 (Drosophila) 122 WWE 2. negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter cytoplasm|nucleus Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 32 CGGCCTACGATATGGACATCT 0.622000 6 68 0 0 0.001984 0 0 BMS1P20 96610 broad.mit.edu 37 22 22664186 22664186 + RNA SNP A A G TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr22:22664186A>G ENST00000426066.1 + 0 709 NR_027293.1 CAGATCAAGAAAGCACTCTGA 0.498000 5 137 0 0 0.001168 0 0 PLXNA1 5361 broad.mit.edu 37 3 126733579 126733579 + Missense_Mutation SNP A A C TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr3:126733579A>C ENST00000393409.2 + 13 2782 c.2782A>C c.(2782-2784)Agc>Cgc p.S928R PLXNA1_ENST00000251772.4_Missense_Mutation_p.S905R NM_032242.3 NP_115618.3 Q9UIW2 PLXA1_HUMAN plexin A1 928 IPT/TIG 1. axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) CGGGGACGCCAGCTCCGTGCG 0.706000 6 31 0 0 0.001168 0 0 VSTM1 284415 broad.mit.edu 37 19 54545555 54545555 + Missense_Mutation SNP T T G TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr19:54545555T>G ENST00000338372.2 - 5 638 c.463A>C c.(463-465)Atc>Ctc p.I155L VSTM1_ENST00000425006.2_3'UTR|VSTM1_ENST00000376626.1_Intron|VSTM1_ENST00000366170.2_Missense_Mutation_p.I67L NM_198481.3 NP_940883.2 Q6UX27 VSTM1_HUMAN V-set and transmembrane domain containing 1 155 integral to membrane breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.165) CTGTAGATGATGAAGACTGAG 0.507000 25 32 0 0 0.003954 0 0 KDM4D 55693 broad.mit.edu 37 11 94731152 94731152 + Missense_Mutation SNP C C T TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr11:94731152C>T ENST00000335080.5 + 3 1448 c.616C>T c.(616-618)Ctt>Ttt p.L206F KDM4D_ENST00000536741.1_Missense_Mutation_p.L206F NM_018039.2 NP_060509.2 Q6B0I6 KDM4D_HUMAN lysine (K)-specific demethylase 4D 206 JmjC. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 CTACCTGCACCTTGGGGAGCC 0.557000 70 24 0 0 0.014410 0 0 NKAIN2 154215 broad.mit.edu 37 6 125112530 125112530 + Missense_Mutation SNP G G A TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr6:125112530G>A ENST00000368417.1 + 5 580 c.520G>A c.(520-522)Gaa>Aaa p.E174K NKAIN2_ENST00000545433.1_Missense_Mutation_p.E159K|NKAIN2_ENST00000546092.1_Missense_Mutation_p.E107K NM_001040214.1 NP_001035304.1 Q5VXU1 NKAI2_HUMAN Na+/K+ transporting ATPase interacting 2 174 integral to membrane|plasma membrane cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2) 19 GBM - Glioblastoma multiforme(226;0.104) ATGTATAACTGAAGAAGAGGA 0.408000 12 41 0 0 0.001855 0 0 SLC13A1 6561 broad.mit.edu 37 7 122821122 122821122 + Missense_Mutation SNP C C T TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr7:122821122C>T ENST00000194130.2 - 2 172 c.133G>A c.(133-135)Gcc>Acc p.A45T SLC13A1_ENST00000539873.1_5'UTR NM_022444.3 NP_071889.2 Q9BZW2 S13A1_HUMAN solute carrier family 13 (sodium/sulfate symporter), member 1 45 integral to membrane|plasma membrane sodium:sulfate symporter activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 45 Succinic acid(DB00139) CAAAATGTGGCGACCACAAAG 0.428000 25 81 0 0 0.005443 0 0 DSCAM 1826 broad.mit.edu 37 21 41505858 41505858 + Missense_Mutation SNP C C T TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr21:41505858C>T ENST00000400454.1 - 19 3962 c.3485G>A c.(3484-3486)aGc>aAc p.S1162N NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1162 Fibronectin type-III 3. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) CACCTGGATGCTGTAGTTGGT 0.567000 28 58 0 0 0.005443 0 0 CACNA1S 779 broad.mit.edu 37 1 201022629 201022629 + Missense_Mutation SNP T T G TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr1:201022629T>G ENST00000362061.3 - 30 3979 c.3753A>C c.(3751-3753)gaA>gaC p.E1251D CACNA1S_ENST00000367338.3_Missense_Mutation_p.E1232D NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 1251 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) TTCGCACTCCTTCTGCCCGGC 0.617000 22 81 0 0 0.003954 0 0 FIGN 55137 broad.mit.edu 37 2 164468318 164468318 + Splice_Site SNP T T C TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr2:164468318T>C ENST00000333129.3 - 3 340 c.e3-2 FIGN_ENST00000482917.1_Splice_Site|FIGN_ENST00000409634.1_Intron NM_018086.2 NP_060556.2 Q5HY92 FIGN_HUMAN fidgetin nuclear matrix ATP binding|nucleoside-triphosphatase activity breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1) 47 TCTTCAAGCCTAAGAATTTTG 0.428000 3 43 0 0 0.004672 0 0 FAM86HP 729375 broad.mit.edu 37 3 129821754 129821754 + RNA SNP C C A TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr3:129821754C>A ENST00000500074.2 - 0 391 CAATACAGCACGTCTACGGTG 0.587000 6 71 3.86212e-05 4.42347e-05 0.008291 1 0 PDPN 10630 broad.mit.edu 37 1 13940906 13940906 + Splice_Site SNP C C T TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr1:13940906C>T ENST00000294489.6 + 5 1051 c.710_splice c.e5+1 p.S237_splice PDPN_ENST00000487038.1_Splice_Site_p.S119_splice|PDPN_ENST00000475043.1_Intron|PDPN_ENST00000513143.1_Splice_Site_p.S119_splice|PDPN_ENST00000376061.4_Splice_Site_p.S119_splice|PDPN_ENST00000376057.4_Intron|PDPN_ENST00000509009.1_Splice_Site_p.S156_splice Q86YL7 PDPN_HUMAN podoplanin 161 cell morphogenesis|lymphangiogenesis|regulation of cell shape filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 16 Ovarian(185;0.249) all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678) GGAAGGTACTCGTAAGTAAAT 0.423000 49 32 0 0 0.014410 0 0 NLRP4 147945 broad.mit.edu 37 19 56363606 56363606 + Missense_Mutation SNP G G A TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr19:56363606G>A ENST00000301295.6 + 2 582 c.160G>A c.(160-162)Gaa>Aaa p.E54K NLRP4_ENST00000346986.5_Missense_Mutation_p.E54K NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 54 DAPIN. ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) ATCCCGGGAAGAACTTGCAAA 0.403000 55 75 0 0 0.014410 0 0 EMP2 2013 broad.mit.edu 37 16 10626808 10626808 + Missense_Mutation SNP G G A TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr16:10626808G>A ENST00000359543.3 - 5 667 c.458C>T c.(457-459)aCc>aTc p.T153I EMP2_ENST00000536829.1_Missense_Mutation_p.T153I NM_001424.4 NP_001415.1 P54851 EMP2_HUMAN epithelial membrane protein 2 153 cell proliferation integral to membrane NS(1)|endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 6 GCTGATGAAGGTGCAGGCGAA 0.522000 34 76 0 0 0.003755 0 0 GUCA1C 9626 broad.mit.edu 37 3 108672598 108672598 + Silent SNP G G T TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr3:108672598G>T ENST00000261047.3 - 1 144 c.12C>A c.(10-12)ggC>ggA p.G4G GUCA1C_ENST00000393963.3_Silent_p.G4G|GUCA1C_ENST00000471108.1_Silent_p.G4G NM_005459.3 NP_005450.3 O95843 GUC1C_HUMAN guanylate cyclase activator 1C 4 signal transduction|visual perception calcium ion binding|calcium sensitive guanylate cyclase activator activity endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1) 14 CTATAGATTTGCCATTCCCCA 0.428000 53 106 8.99859e-20 1.0679e-19 0.014410 1 0 GPR98 84059 broad.mit.edu 37 5 89939773 89939773 + Missense_Mutation SNP G G A TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr5:89939773G>A ENST00000405460.2 + 14 2803 c.2707G>A c.(2707-2709)Gaa>Aaa p.E903K NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 903 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) GATGATAAATGAAAGCAAAGG 0.294000 12 3 0 0 0.013537 0 0 IL10RA 3587 broad.mit.edu 37 11 117866368 117866368 + Silent SNP C C T TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr11:117866368C>T ENST00000227752.3 + 6 873 c.753C>T c.(751-753)gcC>gcT p.A251A IL10RA_ENST00000533700.1_3'UTR|IL10RA_ENST00000541785.1_Silent_p.A231A|IL10RA_ENST00000545409.1_Silent_p.A102A NM_001558.3 NP_001549.2 Q13651 I10R1_HUMAN interleukin 10 receptor, alpha 251 integral to membrane|plasma membrane interleukin-10 receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1) 19 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108) GAGCCCTCGCCTACTGCCTGG 0.592000 44 16 0 0 0.009718 0 0 ZNF34 80778 broad.mit.edu 37 8 145999097 145999097 + Missense_Mutation SNP G G A TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr8:145999097G>A ENST00000429371.2 - 6 1327 c.1174C>T c.(1174-1176)Cac>Tac p.H392Y ZNF34_ENST00000343459.4_Missense_Mutation_p.H413Y NM_030580.3 NP_085057.3 Q8IZ26 ZNF34_HUMAN zinc finger protein 34 413 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1) 11 all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.221) OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11) GBM - Glioblastoma multiforme(99;0.0179) TCTCCAGTGTGAATTCTCTGA 0.438000 19 24 0 0 0.008871 0 0 NPHP1 4867 broad.mit.edu 37 2 110922252 110922252 + Missense_Mutation SNP A A T TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr2:110922252A>T ENST00000316534.4 - 8 857 c.784T>A c.(784-786)Tgt>Agt p.C262S NPHP1_ENST00000417665.1_Intron|NPHP1_ENST00000445609.2_Intron|NPHP1_ENST00000355301.4_Intron|NPHP1_ENST00000393272.3_Missense_Mutation_p.C262S O15259 NPHP1_HUMAN nephronophthisis 1 (juvenile) 262 actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium protein binding|structural molecule activity autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2) 24 TTAACAAGACAGAAGATGCCC 0.468000 39 112 0 0 0.014410 0 0 SLC17A5 26503 broad.mit.edu 37 6 74320250 74320250 + Missense_Mutation SNP A A G TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr6:74320250A>G ENST00000355773.5 - 9 1400 c.1132T>C c.(1132-1134)Ttc>Ctc p.F378L SLC17A5_ENST00000393019.3_Intron NM_012434.4 NP_036566.1 Q9NRA2 S17A5_HUMAN solute carrier family 17 (acidic sugar transporter), member 5 378 anion transport integral to plasma membrane|lysosomal membrane|membrane fraction sialic acid:hydrogen symporter activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 GCTACCAGGAATACTGCAGGT 0.383000 31 93 0 0 0.013726 0 0 FAM129A 116496 broad.mit.edu 37 1 184772734 184772734 + Silent SNP C C T TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr1:184772734C>T ENST00000367511.3 - 12 1732 c.1539G>A c.(1537-1539)gcG>gcA p.A513A FAM129A_ENST00000487074.1_5'UTR NM_052966.2 NP_443198.1 Q9BZQ8 NIBAN_HUMAN family with sequence similarity 129, member A 513 negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress cytoplasm|nucleus|plasma membrane p.A513A(1) autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 45 TGCATGTGGACGCCAGTGCCT 0.433000 49 87 0 0 0.014410 0 0 GOLGA2P9 440518 broad.mit.edu 37 19 22785490 22785490 + RNA SNP G G A TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr19:22785490G>A ENST00000600260.1 + 0 1579 NR_033899.1 CAGCTCTCTGGAGAGACAGAC 0.612000 54 88 0 0 0.014410 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 42 80 0 0 0.009718 0 0 GIMAP1 170575 broad.mit.edu 37 7 150417709 150417709 + Missense_Mutation SNP G G A TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr7:150417709G>A ENST00000307194.5 + 3 757 c.617G>A c.(616-618)gGg>gAg p.G206E NM_130759.3 NP_570115.1 GTPase, IMAP family member 1 p.G206E(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 28 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CAGCTGCTGGGGATGGTCGAG 0.692000 15 15 0 0 0.002450 0 0 CPXM2 119587 broad.mit.edu 37 10 125521537 125521537 + Missense_Mutation SNP G G T TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr10:125521537G>T ENST00000241305.3 - 11 1782 c.1628C>A c.(1627-1629)cCc>cAc p.P543H CPXM2_ENST00000368854.3_5'UTR NM_198148.2 NP_937791.2 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 543 cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) GTGGTCGTCGGGGGTGGGGGT 0.672000 35 55 4.65686e-17 5.49343e-17 0.003755 1 0 ZNF274 10782 broad.mit.edu 37 19 58718389 58718389 + Missense_Mutation SNP A A G TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr19:58718389A>G ENST00000326804.4 + 6 1016 c.557A>G c.(556-558)cAc>cGc p.H186R ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000424679.2_Missense_Mutation_p.H81R|ZNF274_ENST00000345813.3_Missense_Mutation_p.H154R NM_133502.1 NP_598009.1 Q96GC6 ZN274_HUMAN zinc finger protein 274 187 SCAN box. viral reproduction centrosome|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1) 21 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215) GAGCTGTGTCACCAGTGGCTA 0.627000 6 20 0 0 0.001168 0 0 OR4K1 79544 broad.mit.edu 37 14 20404268 20404268 + Missense_Mutation SNP C C T TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr14:20404268C>T ENST00000285600.4 + 1 502 c.443C>T c.(442-444)tCc>tTc p.S148F NM_001004063.2 NP_001004063.2 Q8NGD4 OR4K1_HUMAN olfactory receptor, family 4, subfamily K, member 1 148 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00124) GTGTCTATTTCCTGGGCGGTG 0.453000 15 101 0 0 0.004990 0 0 MDN1 23195 broad.mit.edu 37 6 90468045 90468045 + Silent SNP G G A TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr6:90468045G>A ENST00000369393.3 - 19 2746 c.2631C>T c.(2629-2631)ttC>ttT p.F877F MDN1_ENST00000428876.1_Silent_p.F877F Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 877 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) CAAATAAACGGAAGTCAGGAT 0.443000 12 9 0 0 0.013537 0 0 CCDC108 255101 broad.mit.edu 37 2 219894796 219894796 + Silent SNP A A G TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr2:219894796A>G ENST00000341552.5 - 10 1379 c.1296T>C c.(1294-1296)acT>acC p.T432T CCDC108_ENST00000441968.1_Silent_p.T432T|CCDC108_ENST00000453220.1_Silent_p.T432T|CCDC108_ENST00000410037.1_Silent_p.T367T|CCDC108_ENST00000409865.3_Silent_p.T421T NM_194302.2 NP_919278.2 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 432 integral to membrane structural molecule activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TGGTGTCCAGAGTCTTGGGGT 0.557000 OREG0015211 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 26 45 0 0 0.004656 0 0 OR4L1 122742 broad.mit.edu 37 14 20528800 20528800 + Silent SNP C C T TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr14:20528800C>T ENST00000315683.1 + 1 597 c.597C>T c.(595-597)gtC>gtT p.V199V NM_001004717.1 NP_001004717.1 Q8NH43 OR4L1_HUMAN olfactory receptor, family 4, subfamily L, member 1 199 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) AATTATTTGTCATTGCTGACA 0.423000 55 90 0 0 0.014410 0 0 C8orf34 116328 broad.mit.edu 37 8 69434077 69434077 + Missense_Mutation SNP T T C TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr8:69434077T>C ENST00000337103.4 + 5 2068 c.476T>C c.(475-477)aTt>aCt p.I159T C8orf34_ENST00000349492.3_3'UTR|C8orf34_ENST00000348340.2_Missense_Mutation_p.I184T|C8orf34_ENST00000518698.1_Missense_Mutation_p.I270T|C8orf34_ENST00000539993.1_Missense_Mutation_p.I184T Q49A92 CH034_HUMAN chromosome 8 open reading frame 34 184 signal transduction cAMP-dependent protein kinase regulator activity NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 36 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) CCCCGTGTGATTGGAGAATGG 0.403000 58 60 0 0 0.014410 0 0 TINAG 27283 broad.mit.edu 37 6 54212203 54212203 + Nonsense_Mutation SNP C C T TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr6:54212203C>T ENST00000259782.4 + 6 883 c.787C>T c.(787-789)Cga>Tga p.R263* NM_014464.3 NP_055279.3 Q9UJW2 TINAG_HUMAN tubulointerstitial nephritis antigen 263 cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis basement membrane cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1) 34 Lung NSC(77;0.0518) LUSC - Lung squamous cell carcinoma(124;0.246) GTCTAAGGGTCGATACACGGC 0.418000 23 27 0 0 0.014323 0 0 ZNF271P 10778 broad.mit.edu 37 18 32887691 32887691 + RNA SNP G G A TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr18:32887691G>A ENST00000399070.3 + 0 2085 NR_024565.1|NR_024566.1 large_intestine(3)|lung(9) 12 GTTCAGTGCAGCAGAAGTTGT 0.428000 9 45 0 0 0.006214 0 0 OR2J2 26707 broad.mit.edu 37 6 29141738 29141738 + Missense_Mutation SNP G G A TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr6:29141738G>A ENST00000377167.2 + 1 428 c.326G>A c.(325-327)gGa>gAa p.G109E NM_030905.2 NP_112167.2 O76002 OR2J2_HUMAN olfactory receptor, family 2, subfamily J, member 2 109 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1) 25 CTTGCACTGGGAATCACAGAG 0.488000 125 149 0 0 0.014410 0 0 FILIP1 27145 broad.mit.edu 37 6 76023848 76023848 + Missense_Mutation SNP T T C TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr6:76023848T>C ENST00000393004.2 - 5 1921 c.1700A>G c.(1699-1701)aAc>aGc p.N567S FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.N468S|FILIP1_ENST00000237172.7_Missense_Mutation_p.N567S Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 567 breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4) 80 TCTTGTCAAGTTGTATACTTT 0.313000 22 49 0 0 0.012319 0 0 MAL 4118 broad.mit.edu 37 2 95713853 95713853 + Silent SNP G G A TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr2:95713853G>A ENST00000309988.4 + 2 352 c.243G>A c.(241-243)gaG>gaA p.E81E MAL_ENST00000349807.3_Intron|MAL_ENST00000354078.3_Intron|MAL_ENST00000353004.3_Silent_p.E81E NM_002371.3 NP_002362.1 P21145 MAL_HUMAN mal, T-cell differentiation protein 81 MARVEL. apical protein localization|cell differentiation|central nervous system development|induction of apoptosis|membrane raft polarization|myelination apical plasma membrane|endoplasmic reticulum|endosome|integral to plasma membrane|membrane raft apoptotic protease activator activity|channel activity|lipid binding|structural constituent of myelin sheath p.E81E(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(2) 10 STAD - Stomach adenocarcinoma(1183;0.18) ACGGTGGAGAGACTTCCTGGG 0.602000 31 43 0 0 0.010818 0 0 MYH8 4626 broad.mit.edu 37 17 10307679 10307679 + Missense_Mutation SNP C C T TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr17:10307679C>T ENST00000403437.2 - 22 2750 c.2656G>A c.(2656-2658)Gag>Aag p.E886K CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 886 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 TCATTTTTCTCTTTTAAGAGA 0.408000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 75 48 0 0 0.014410 0 0 ALPI 248 broad.mit.edu 37 2 233321670 233321670 + Missense_Mutation SNP G G A TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr2:233321670G>A ENST00000295463.3 + 4 439 c.362G>A c.(361-363)gGg>gAg p.G121E NM_001631.3 NP_001622.2 P09923 PPBI_HUMAN alkaline phosphatase, intestinal 121 phosphorylation anchored to membrane|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1) 24 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746) TACCTGTGCGGGGTCAAGGCC 0.607000 16 7 0 0 0.006122 0 0 MYH13 8735 broad.mit.edu 37 17 10212567 10212567 + Missense_Mutation SNP T T G TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr17:10212567T>G ENST00000418404.3 - 34 5316 c.5153A>C c.(5152-5154)cAg>cCg p.Q1718P MYH13_ENST00000570743.1_Missense_Mutation_p.Q1718P|MYH13_ENST00000252172.4_Missense_Mutation_p.Q1718P Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 1718 muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 GTGCAGGAGCTGCACGCGGTC 0.672000 15 54 0 0 0.004007 0 0 SALL2 6297 broad.mit.edu 37 14 21993455 21993455 + Missense_Mutation SNP C C A TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr14:21993455C>A ENST00000327430.3 - 2 701 c.407G>T c.(406-408)gGa>gTa p.G136V SALL2_ENST00000450879.2_Intron|SALL2_ENST00000317492.5_Intron|SALL2_ENST00000538754.1_Intron NM_005407.1 NP_005398.1 Q9Y467 SALL2_HUMAN spalt-like transcription factor 2 136 Poly-Gly. DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2) 43 all_cancers(95;0.000662) GBM - Glioblastoma multiforme(265;0.0151) GCCCCCGCCTCCCCCAGCCGC 0.682000 26 36 1.68575e-08 1.96505e-08 0.007291 1 0 SPINK4 27290 broad.mit.edu 37 9 33246632 33246632 + Missense_Mutation SNP G G A TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr9:33246632G>A ENST00000379725.1 + 4 312 c.190G>A c.(190-192)Gta>Ata p.V64I SPINK4_ENST00000379721.3_Missense_Mutation_p.V41I|SPINK4_ENST00000379723.1_Missense_Mutation_p.V64I O60575 ISK4_HUMAN serine peptidase inhibitor, Kazal type 4 41 Kazal-like. extracellular region serine-type endopeptidase inhibitor activity lung(1) 1 LUSC - Lung squamous cell carcinoma(29;0.00506) TGAACACATGGTAGAGTCTCC 0.557000 47 73 0 0 0.014410 0 0 DNMT3L 29947 broad.mit.edu 37 21 45671560 45671560 + Missense_Mutation SNP C C T TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr21:45671560C>T ENST00000270172.3 - 9 1198 c.715G>A c.(715-717)Gat>Aat p.D239N DNMT3L_ENST00000418993.1_Missense_Mutation_p.D239N NM_013369.3 NP_037501.2 Q9UJW3 DNM3L_HUMAN DNA (cytosine-5-)-methyltransferase 3-like 239 DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis cytosol enzyme activator activity|enzyme binding|metal ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3) 11 Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781) TACACAAGATCGAAGGGTCCC 0.652000 30 33 0 0 0.010818 0 0 OR4K15 81127 broad.mit.edu 37 14 20443798 20443798 + Silent SNP C C T TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr14:20443798C>T ENST00000305051.5 + 1 196 c.121C>T c.(121-123)Ctg>Ttg p.L41L NM_001005486.1 NP_001005486.1 Q8NH41 OR4KF_HUMAN olfactory receptor, family 4, subfamily K, member 15 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1) 39 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;3.58e-06) GBM - Glioblastoma multiforme(265;0.00327) GTTGCTGGGACTGTCTAGTTC 0.408000 61 86 0 0 0.014410 0 0 CLDN18 51208 broad.mit.edu 37 3 137743456 137743456 + Silent SNP T T C TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr3:137743456T>C ENST00000183605.5 + 3 619 c.393T>C c.(391-393)tgT>tgC p.C131C CLDN18_ENST00000343735.4_Silent_p.C131C NM_016369.3 NP_057453.1 P56856 CLD18_HUMAN claudin 18 131 calcium-independent cell-cell adhesion|tight junction assembly integral to membrane|tight junction identical protein binding|structural molecule activity endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 6 CAGGTCTTTGTGCAATTGCTG 0.453000 45 229 0 0 0.014410 0 0 PHF21A 51317 broad.mit.edu 37 11 45991416 45991416 + Missense_Mutation SNP G G T TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr11:45991416G>T ENST00000257821.4 - 8 1275 c.652C>A c.(652-654)Cag>Aag p.Q218K PHF21A_ENST00000418153.2_Missense_Mutation_p.Q217K|PHF21A_ENST00000323180.6_Missense_Mutation_p.Q218K NM_001101802.1 NP_001095272.1 Q96BD5 PF21A_HUMAN PHD finger protein 21A 217 blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent histone deacetylase complex DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 29 GGGATAAACTGTGGTACTTTG 0.423000 6 17 2.0095e-06 2.31504e-06 0.001984 1 0 ARGFX 503582 broad.mit.edu 37 3 121305296 121305296 + Missense_Mutation SNP C C T TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr3:121305296C>T ENST00000334384.3 + 4 807 c.797C>T c.(796-798)tCc>tTc p.S266F NM_001012659.1 NP_001012677.1 A6NJG6 ARGFX_HUMAN arginine-fifty homeobox 266 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 15 GBM - Glioblastoma multiforme(114;0.152) GGACAGGGTTCCTCTCTCAGC 0.478000 47 70 0 0 0.011902 0 0 ZNF493 284443 broad.mit.edu 37 19 21606712 21606712 + Silent SNP T T C TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr19:21606712T>C ENST00000392288.2 + 4 1360 c.1251T>C c.(1249-1251)tcT>tcC p.S417S CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Silent_p.S289S NM_001076678.2 NP_001070146.1 Q6ZR52 ZN493_HUMAN zinc finger protein 493 289 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 ATAAGGAGTCTTCACACCTTA 0.348000 3 77 0 0 0.009096 0 0 IGFN1 91156 broad.mit.edu 37 1 201184809 201184809 + Silent SNP G G A TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr1:201184809G>A ENST00000335211.4 + 15 9268 c.9138G>A c.(9136-9138)gtG>gtA p.V3046V IGFN1_ENST00000295591.8_Silent_p.V206V|IGFN1_ENST00000451870.2_Intron NM_001164586.1 NP_001158058.1 immunoglobulin-like and fibronectin type III domain containing 1 autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 GGGCTGAGGTGGTGGGCAGCA 0.657000 25 46 0 0 0.003330 0 0 EVPL 2125 broad.mit.edu 37 17 74011093 74011093 + Missense_Mutation SNP T T C TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr17:74011093T>C ENST00000301607.3 - 17 2379 c.2126A>G c.(2125-2127)aAc>aGc p.N709S EVPL_ENST00000586740.1_Missense_Mutation_p.N731S NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 709 Globular 1. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 CTCCTGGAAGTTGTTCTGCAG 0.682000 69 24 0 0 0.014410 0 0 NCOA6 23054 broad.mit.edu 37 20 33345550 33345550 + Missense_Mutation SNP G G A TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr20:33345550G>A ENST00000374796.2 - 8 3571 c.1001C>T c.(1000-1002)tCt>tTt p.S334F NCOA6_ENST00000359003.2_Missense_Mutation_p.S334F Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 334 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 TGTGCCCAGAGAACCCTGGGC 0.587000 56 62 0 0 0.014410 0 0 ZRSR1 7310 broad.mit.edu 37 5 112227939 112227939 + Silent SNP T T C rs712666 by1000genomes TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr5:112227939T>C ENST00000391338.1 + 1 627 c.603T>C c.(601-603)tcT>tcC p.S201S REEP5_ENST00000379638.4_Intron|REEP5_ENST00000474542.2_Intron|REEP5_ENST00000513339.1_Intron|REEP5_ENST00000545426.1_Intron|REEP5_ENST00000504247.1_Intron|SRP19_ENST00000512790.1_3'UTR NM_001204199.1 NP_001191128.1 zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 1 p.S201S(1) breast(1)|skin(1)|stomach(2) 4 TCCCAACATCTAGTCCTACCC 0.453000 3 97 0 0 0.000602 0 0 TRPM1 4308 broad.mit.edu 37 15 31341578 31341578 + Splice_Site SNP T T A TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr15:31341578T>A ENST00000542188.1 - 12 1936 c.1623_splice c.e12+1 p.T541_splice TRPM1_ENST00000397795.2_Splice_Site_p.T502_splice|TRPM1_ENST00000256552.6_Splice_Site_p.T524_splice NM_001252020.1 NP_001238949.1 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, subfamily M, member 1 502 M -> K (in CSNB1C). cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3) 99 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) GAGCACTCACTGTGTTATAAA 0.463000 52 115 0 0 0.014410 0 0 ARAP3 64411 broad.mit.edu 37 5 141051859 141051859 + Silent SNP G G T TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr5:141051859G>T ENST00000239440.4 - 10 1460 c.1395C>A c.(1393-1395)gcC>gcA p.A465A ARAP3_ENST00000513878.1_Silent_p.A127A|ARAP3_ENST00000508305.1_Silent_p.A387A NM_022481.5 NP_071926.4 Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 465 PH 2. cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1) 53 CCCCAGACTCGGCTGTGAAGC 0.627000 27 50 7.38237e-10 8.65671e-10 0.006320 1 0 MKI67 4288 broad.mit.edu 37 10 129911718 129911718 + Silent SNP A A G TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr10:129911718A>G ENST00000368654.3 - 8 2004 c.1629T>C c.(1627-1629)acT>acC p.T543T MKI67_ENST00000368653.3_Silent_p.T183T NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 543 cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) GGACAGGTGGAGTGTGCATTA 0.473000 50 135 0 0 0.014410 0 0 MRPS17P9 359760 broad.mit.edu 37 X 118513859 118513859 + RNA SNP A A C TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chrX:118513859A>C ENST00000413240.1 - 0 491 ACAATTGGGGATATCGTGCTT 0.403000 30 120 0 0 0.013726 0 0 VWC2L 402117 broad.mit.edu 37 2 215279277 215279277 + Silent SNP G G A TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr2:215279277G>A ENST00000312504.5 + 2 1162 c.360G>A c.(358-360)ggG>ggA p.G120G AC107218.3_ENST00000412896.1_RNA|VWC2L_ENST00000427124.1_Silent_p.G120G|AC107218.3_ENST00000437883.1_RNA NM_001080500.2 NP_001073969.1 B2RUY7 VWC2L_HUMAN von Willebrand factor C domain containing protein 2-like 120 VWFC 2. extracellular region breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1) 16 AATATCACGGGAAAAATTACA 0.358000 16 4 0 0 0.006122 0 0 TTN 7273 broad.mit.edu 37 2 179464170 179464170 + Missense_Mutation SNP G G A TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr2:179464170G>A ENST00000589042.1 - 290 56574 c.56350C>T c.(56350-56352)Cgt>Tgt p.R18784C TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R9844C|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R9911C|TTN_ENST00000342992.6_Missense_Mutation_p.R16216C|TTN_ENST00000460472.2_Missense_Mutation_p.R9719C|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R17143C|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 17143 Fibronectin type-III 36. 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) GGGCCAGGACGACCTAAAATG 0.368000 55 20 0 0 0.014410 0 0 PDZD2 23037 broad.mit.edu 37 5 31799634 31799634 + Silent SNP C C T rs146790239 TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr5:31799634C>T ENST00000438447.1 + 2 667 c.279C>T c.(277-279)ttC>ttT p.F93F PDZD2_ENST00000282493.3_Silent_p.F93F O15018 PDZD2_HUMAN PDZ domain containing 2 93 PDZ 1. cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 TCCCTGTTTTCGGGGACTATG 0.567000 78 29 0 0 0.014410 0 0 CCDC178 374864 broad.mit.edu 37 18 30847243 30847243 + Missense_Mutation SNP C C T TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr18:30847243C>T ENST00000383096.3 - 13 1377 c.1195G>A c.(1195-1197)Gtt>Att p.V399I CCDC178_ENST00000300227.8_Missense_Mutation_p.V399I|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000583930.1_Missense_Mutation_p.V399I|CCDC178_ENST00000406524.2_Missense_Mutation_p.V399I|CCDC178_ENST00000402325.1_Missense_Mutation_p.V399I|CCDC178_ENST00000579947.1_Missense_Mutation_p.V399I|CCDC178_ENST00000403303.1_Missense_Mutation_p.V399I coiled-coil domain containing 178 TGGTCATAAACTCTTCTCAAA 0.308000 34 109 0 0 0.003271 0 0 SRPX 8406 broad.mit.edu 37 X 38079978 38079978 + Missense_Mutation SNP A A G rs72445954 TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chrX:38079978A>G ENST00000378533.3 - 1 174 c.68T>C c.(67-69)cTg>cCg p.L23P SRPX_ENST00000343800.6_Intron|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000544439.1_Missense_Mutation_p.L23P|SRPX_ENST00000538295.1_Missense_Mutation_p.L23P|SRPX_ENST00000432886.2_Missense_Mutation_p.L23P NM_006307.4 NP_006298.1 P78539 SRPX_HUMAN sushi-repeat containing protein, X-linked 23 Missing. cell adhesion cell surface|membrane p.L23delL(2) autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2) 25 CGGGACGCgcagcagcagcag 0.726000 OREG0019726 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 10 0 0 0.000602 0 0 TMPRSS3 64699 broad.mit.edu 37 21 43808546 43808546 + Missense_Mutation SNP C C T rs140614903 byFrequency TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr21:43808546C>T ENST00000291532.3 - 5 1367 c.412G>A c.(412-414)Gca>Aca p.A138T TMPRSS3_ENST00000398405.1_Missense_Mutation_p.A136T|TMPRSS3_ENST00000380399.1_Missense_Mutation_p.A222T|TMPRSS3_ENST00000474596.1_5'UTR|TMPRSS3_ENST00000433957.2_Missense_Mutation_p.A138T|TMPRSS3_ENST00000398397.3_Missense_Mutation_p.A138T NM_032404.2 NP_115780.1 P57727 TMPS3_HUMAN transmembrane protease, serine 3 138 SRCR. cellular sodium ion homeostasis|proteolysis endoplasmic reticulum membrane|integral to membrane scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1) 13 GCAACATTTGCGTAGTGACCC 0.512000 30 85 0 0 0.010818 0 0 BCL9L 283149 broad.mit.edu 37 11 118769345 118769345 + Missense_Mutation SNP G G A TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr11:118769345G>A ENST00000334801.3 - 8 5243 c.4279C>T c.(4279-4281)Ctc>Ttc p.L1427F BCL9L_ENST00000526143.1_5'UTR NM_182557.2 NP_872363.1 Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like 1427 negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 56 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) TGGGTCATGAGGCCTTGTGGA 0.662000 26 12 0 0 0.003954 0 0 OR2AK2 391191 broad.mit.edu 37 1 248129469 248129469 + Missense_Mutation SNP C C G TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr1:248129469C>G ENST00000366480.3 + 1 935 c.836C>G c.(835-837)tCc>tGc p.S279C OR2L13_ENST00000366478.2_Intron NM_001004491.1 NP_001004491.1 Q8NG84 O2AK2_HUMAN olfactory receptor, family 2, subfamily AK, member 2 279 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 36 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) AGGCCACACTCCTTGCGTTCC 0.483000 18 59 0 0 0.004990 0 0 ALPPL2 251 broad.mit.edu 37 2 233272555 233272555 + Splice_Site SNP G G T TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr2:233272555G>T ENST00000295453.3 + 5 528 c.475_splice c.e5-1 p.G159_splice NM_031313.2 NP_112603.2 P10696 PPBN_HUMAN alkaline phosphatase, placental-like 2 159 phosphorylation anchored to membrane|plasma membrane alkaline phosphatase activity|metal ion binding breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1) 13 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) Amifostine(DB01143)|Levamisole(DB00848) TCACCCTCAGGAAAGTCAGTG 0.617000 44 8 1.5731e-28 1.87819e-28 0.011902 1 0 SLC44A2 57153 broad.mit.edu 37 19 10747072 10747072 + Missense_Mutation SNP C C T TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr19:10747072C>T ENST00000586078.1 + 15 1416 c.1307C>T c.(1306-1308)tCg>tTg p.S436L SLC44A2_ENST00000407327.4_Missense_Mutation_p.S434L|SLC44A2_ENST00000335757.5_Missense_Mutation_p.S436L NM_020428.3 NP_065161.3 Q8IWA5 CTL2_HUMAN solute carrier family 44 (choline transporter), member 2 436 positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane|plasma membrane choline transmembrane transporter activity|signal transducer activity NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 27 Epithelial(33;8.7e-06)|all cancers(31;2.77e-05) Choline(DB00122) GGTGGTGAGTCGGGCTACCAC 0.622000 37 121 0 0 0.003271 0 0 OTOF 9381 broad.mit.edu 37 2 26725240 26725240 + Missense_Mutation SNP C C T TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr2:26725240C>T ENST00000272371.2 - 7 764 c.638G>A c.(637-639)gGa>gAa p.G213E OTOF_ENST00000403946.3_Missense_Mutation_p.G213E NM_194248.2 NP_919224.1 Q9HC10 OTOF_HUMAN otoferlin 213 cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CAGTCCATCTCCTAGCCGAAT 0.567000 23 19 0 0 0.012319 0 0 ETV3L 440695 broad.mit.edu 37 1 157069119 157069119 + Missense_Mutation SNP C C T TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr1:157069119C>T ENST00000454449.2 - 2 394 c.110G>A c.(109-111)cGg>cAg p.R37Q NM_001004341.2 NP_001004341.1 Q6ZN32 ETV3L_HUMAN ets variant 3-like 37 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 Hepatocellular(266;0.158) Prostate(1639;0.184) CTGGATCTGCCGGGAGCCTGG 0.622000 26 44 0 0 0.006320 0 0 SIGLEC12 89858 broad.mit.edu 37 19 52000671 52000671 + Silent SNP C C T TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr19:52000671C>T ENST00000291707.3 - 6 1489 c.1434G>A c.(1432-1434)acG>acA p.T478T SIGLEC12_ENST00000598614.1_Silent_p.T360T NM_053003.2 NP_443729.1 Q96PQ1 SIG12_HUMAN sialic acid binding Ig-like lectin 12 (gene/pseudogene) 478 T -> M (in dbSNP:rs3829658). cell adhesion integral to membrane sugar binding NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2) 61 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102) ATGCCCCTAGCGTCACTCCTG 0.547000 56 90 0 0 0.014410 0 0 TUFM 7284 broad.mit.edu 37 16 28857367 28857367 + Missense_Mutation SNP G G A TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr16:28857367G>A ENST00000313511.3 - 2 251 c.113C>T c.(112-114)gCa>gTa p.A38V NM_003321.4 NP_003312.3 P49411 EFTU_HUMAN Tu translation elongation factor, mitochondrial 35 mitochondrial nucleoid GTP binding|GTPase activity|protein binding|translation elongation factor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 13 GAGAGGCAATGCCGGGGCTTT 0.652000 22 75 0 0 0.003330 0 0 MUC2 4583 broad.mit.edu 37 11 1080564 1080564 + Silent SNP C C T TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr11:1080564C>T ENST00000441003.2 + 9 1233 c.1206C>T c.(1204-1206)ttC>ttT p.F402F MUC2_ENST00000359061.5_Silent_p.F402F NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 402 VWFD 2. inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) TCACCACCTTCGATGGGAAGA 0.652000 17 5 0 0 0.006122 0 0 KLHL20 27252 broad.mit.edu 37 1 173702979 173702979 + Missense_Mutation SNP C C T TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr1:173702979C>T ENST00000209884.4 + 3 287 c.151C>T c.(151-153)Cct>Tct p.P51S KLHL20_ENST00000546011.1_Intron|KLHL20_ENST00000493170.1_3'UTR NM_014458.3 NP_055273.2 Q9Y2M5 KLH20_HUMAN kelch-like family member 20 51 cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body actin binding|interferon-gamma binding|ubiquitin-protein ligase activity breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1) 34 AGACAAGCACCCTCGACAAAC 0.527000 18 116 0 0 0.008871 0 0 SULT1A1 6817 broad.mit.edu 37 16 28617511 28617511 + Missense_Mutation SNP G G A TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr16:28617511G>A ENST00000395609.1 - 9 1399 c.641C>T c.(640-642)tCc>tTc p.S214F SULT1A1_ENST00000350842.4_Missense_Mutation_p.S136F|SULT1A1_ENST00000314752.7_Missense_Mutation_p.S214F|SULT1A1_ENST00000569554.1_Missense_Mutation_p.S214F|SULT1A1_ENST00000395607.1_Missense_Mutation_p.S214F P50225 ST1A1_HUMAN sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 214 3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process cytosol aryl sulfotransferase activity|flavonol 3-sulfotransferase activity endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2) 16 CTCTGGCAGGGAGCGCCCCAC 0.547000 62 52 0 0 0.014410 0 0 KIAA1324 57535 broad.mit.edu 37 1 109745567 109745567 + Splice_Site SNP G G A TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr1:109745567G>A ENST00000369939.3 + 22 3158 c.2973_splice c.e22-1 p.R992_splice KIAA1324_ENST00000369938.1_3'UTR|KIAA1324_ENST00000529753.1_Splice_Site_p.R905_splice NM_020775.4 NP_065826.2 Q6UXG2 K1324_HUMAN KIAA1324 992 macroautophagy|positive regulation of vacuole organization|regulation of apoptosis integral to plasma membrane NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063) Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249) CTCTTTCAGAGGACTCCTGAT 0.537000 64 91 0 0 0.014410 0 0 PABPC3 5042 broad.mit.edu 37 13 25670378 25670378 + Silent SNP C C T TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr13:25670378C>T ENST00000281589.3 + 1 79 c.42C>T c.(40-42)taC>taT p.Y14Y NM_030979.2 NP_112241.2 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 14 RRM 1. mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding p.Y14*(1) breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) CCTCGCTCTACGTGGGGGACC 0.637000 23 65 0 0 0.003954 0 0 RERE 473 broad.mit.edu 37 1 8420555 8420555 + Silent SNP G G A TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr1:8420555G>A ENST00000337907.3 - 19 3646 c.3012C>T c.(3010-3012)ccC>ccT p.P1004P RERE_ENST00000476556.1_Silent_p.P450P|RERE_ENST00000400907.2_Intron|RERE_ENST00000400908.2_Silent_p.P1004P|RERE_ENST00000377464.1_Silent_p.P736P NM_012102.3 NP_036234.3 Q9P2R6 RERE_HUMAN arginine-glutamic acid dipeptide (RE) repeats 1004 Pro-rich. multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) TCAGCCCGGGGGGCTGGGCGG 0.721000 9 3 0 0 0.004482 0 0 TEKT1 83659 broad.mit.edu 37 17 6722611 6722611 + Missense_Mutation SNP T T A rs143710127 TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr17:6722611T>A ENST00000338694.2 - 3 386 c.257A>T c.(256-258)aAt>aTt p.N86I TEKT1_ENST00000535086.1_Intron NM_053285.1 NP_444515.1 Q969V4 TEKT1_HUMAN tektin 1 86 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1) 20 Myeloproliferative disorder(207;0.0255) ATCAGTTACATTCACAAGCTG 0.458000 15 98 0 0 0.004990 0 0 NLGN1 22871 broad.mit.edu 37 3 173998380 173998380 + Missense_Mutation SNP C C T TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr3:173998380C>T ENST00000457714.1 + 7 2188 c.1759C>T c.(1759-1761)Cat>Tat p.H587Y NLGN1_ENST00000401917.3_Missense_Mutation_p.H627Y|NLGN1_ENST00000545397.1_Missense_Mutation_p.H587Y|NLGN1_ENST00000361589.4_Missense_Mutation_p.H587Y NM_014932.2 NP_055747.1 Q8N2Q7 NLGN1_HUMAN neuroligin 1 604 calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) ACTTTATCTCCATATTGGATT 0.398000 64 88 0 0 0.014410 0 0 SLC6A9 6536 broad.mit.edu 37 1 44466702 44466702 + Missense_Mutation SNP A A T TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr1:44466702A>T ENST00000372310.3 - 11 1526 c.1361T>A c.(1360-1362)aTg>aAg p.M454K SLC6A9_ENST00000372307.3_Missense_Mutation_p.M389K|SLC6A9_ENST00000537678.1_3'UTR|SLC6A9_ENST00000475075.2_Missense_Mutation_p.M343K|SLC6A9_ENST00000372306.3_Missense_Mutation_p.M454K|SLC6A9_ENST00000360584.2_Missense_Mutation_p.M527K|SLC6A9_ENST00000357730.2_Missense_Mutation_p.M473K NM_001024845.2 NP_001020016.1 P48067 SC6A9_HUMAN solute carrier family 6 (neurotransmitter transporter, glycine), member 9 527 integral to plasma membrane|membrane fraction glycine:sodium symporter activity|neurotransmitter:sodium symporter activity endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2) 22 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) Glycine(DB00145) ATAGTTGTCCATCAGCAGCAG 0.627000 24 47 0 0 0.002780 0 0 ITGB8 3696 broad.mit.edu 37 7 20449354 20449354 + Missense_Mutation SNP A A G TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr7:20449354A>G ENST00000222573.3 + 13 2824 c.2140A>G c.(2140-2142)Aat>Gat p.N714D ITGB8_ENST00000537992.1_Missense_Mutation_p.N579D NM_002214.2 NP_002205.1 P26012 ITB8_HUMAN integrin, beta 8 714 cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development integrin complex protein binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1) 37 ATGGAATAGTAATAAAATTAA 0.323000 59 92 0 0 0.014410 0 0 PVRL4 81607 broad.mit.edu 37 1 161044509 161044509 + Missense_Mutation SNP C C T TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr1:161044509C>T ENST00000368012.3 - 5 1194 c.892G>A c.(892-894)Gac>Aac p.D298N PVRL4_ENST00000453926.2_Missense_Mutation_p.D32N NM_030916.2 NP_112178.2 Q96NY8 PVRL4_HUMAN poliovirus receptor-related 4 298 Ig-like C2-type 2. adherens junction organization|cell adhesion|cell junction assembly adherens junction|extracellular region|integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1) 20 all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) CCCAAAGTGTCCCCATCCACT 0.597000 26 33 0 0 0.003954 0 0 TAS2R39 259285 broad.mit.edu 37 7 142880577 142880577 + Silent SNP C C T TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr7:142880577C>T ENST00000446620.1 + 1 66 c.66C>T c.(64-66)tgC>tgT p.C22C NM_176881.2 NP_795362.2 P59534 T2R39_HUMAN taste receptor, type 2, member 39 22 sensory perception of taste integral to membrane G-protein coupled receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 Melanoma(164;0.059) CTAAACTCTGCGATCCTGCAG 0.408000 14 49 0 0 0.002450 0 0 GLT8D2 83468 broad.mit.edu 37 12 104390557 104390557 + Missense_Mutation SNP C C T rs7133444 TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr12:104390557C>T ENST00000360814.4 - 8 961 c.556G>A c.(556-558)Gat>Aat p.D186N GLT8D2_ENST00000546436.1_Missense_Mutation_p.D186N|GLT8D2_ENST00000548660.1_Missense_Mutation_p.D186N NM_031302.3 NP_112592.1 Q9H1C3 GL8D2_HUMAN glycosyltransferase 8 domain containing 2 186 integral to membrane transferase activity, transferring glycosyl groups p.D186N(1) kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 GAGGGCAAATCGCAGTCATCT 0.502000 60 30 0 0 0.014410 0 0 ZCCHC7 84186 broad.mit.edu 37 9 37357180 37357180 + Missense_Mutation SNP G G A TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr9:37357180G>A ENST00000336755.5 + 9 1653 c.1547G>A c.(1546-1548)gGc>gAc p.G516D ZCCHC7_ENST00000461038.1_3'UTR|ZCCHC7_ENST00000534928.1_Missense_Mutation_p.G226D NM_032226.2 NP_115602.2 Q8N3Z6 ZCHC7_HUMAN zinc finger, CCHC domain containing 7 516 nucleic acid binding|zinc ion binding central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 30 GBM - Glioblastoma multiforme(29;0.0137) GGCAAGAGGGGCAAGCAGAAG 0.443000 4 84 0 0 0.009096 0 0 TNFAIP8L3 388121 broad.mit.edu 37 15 51350174 51350174 + Silent SNP G G A TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr15:51350174G>A ENST00000327536.5 - 3 882 c.783C>T c.(781-783)ttC>ttT p.F261F RP11-108K3.1_ENST00000559909.1_lincRNA NM_207381.2 NP_997264.2 Q5GJ75 TP8L3_HUMAN tumor necrosis factor, alpha-induced protein 8-like 3 261 endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 11 all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338) GGGTGGAGAGGAACTCCACAT 0.517000 43 43 0 0 0.010771 0 0 MYOF 26509 broad.mit.edu 37 10 95095700 95095700 + Missense_Mutation SNP G G C TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr10:95095700G>C ENST00000371501.4 - 41 4663 c.4541C>G c.(4540-4542)cCt>cGt p.P1514R MYOF_ENST00000358334.5_Missense_Mutation_p.P1501R|MYOF_ENST00000359263.4_Missense_Mutation_p.P1514R|MYOF_ENST00000371502.4_Missense_Mutation_p.P1533R Q9NZM1 MYOF_HUMAN myoferlin 1514 blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 AACCACAGAAGGATCTTCATT 0.408000 11 199 0 0 0.010729 0 0 MGAT3 4248 broad.mit.edu 37 22 39884939 39884939 + Silent SNP C C T TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr22:39884939C>T ENST00000341184.6 + 2 1802 c.1587C>T c.(1585-1587)gaC>gaT p.D529D NM_001098270.1|NM_002409.4 NP_001091740.1|NP_002400.3 Q09327 MGAT3_HUMAN mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase 529 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1) 24 Melanoma(58;0.04) GCAAACTGGACGAGGCGGAAG 0.701000 8 17 0 0 0.008291 0 0 NT5C1A 84618 broad.mit.edu 37 1 40126862 40126862 + Silent SNP G G A TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr1:40126862G>A ENST00000235628.1 - 5 629 c.630C>T c.(628-630)ttC>ttT p.F210F NM_032526.1 NP_115915.1 Q9BXI3 5NT1A_HUMAN 5'-nucleotidase, cytosolic IA 210 purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process cytosol 5'-nucleotidase activity|magnesium ion binding|nucleotide binding breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2) 15 Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) CGTCCCCATCGAAGGCCACGC 0.612000 43 11 0 0 0.006999 0 0 JUP 3728 broad.mit.edu 37 17 39925418 39925418 + Silent SNP C C T rs140539043 byFrequency TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr17:39925418C>T ENST00000393931.3 - 4 628 c.510G>A c.(508-510)tcG>tcA p.S170S JUP_ENST00000393930.1_Silent_p.S170S|JUP_ENST00000540235.1_Silent_p.S170S|JUP_ENST00000310706.5_Silent_p.S170S NM_002230.2 NP_002221.1 P14923 PLAK_HUMAN junction plakoglobin 170 adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1) 23 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.233) BRCA - Breast invasive adenocarcinoma(366;0.15) CCTCCTTCTTCGACAGCTGGT 0.657000 59 6 0 0 0.014410 0 0 GGT7 2686 broad.mit.edu 37 20 33449261 33449261 + Missense_Mutation SNP G G A TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr20:33449261G>A ENST00000336431.5 - 4 706 c.662C>T c.(661-663)tCc>tTc p.S221F NM_178026.2 NP_821158.2 Q9UJ14 GGT7_HUMAN gamma-glutamyltransferase 7 221 glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity p.S221F(1) NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2) 20 GGTCTCCCAGGATCTTTGCAG 0.527000 32 58 0 0 0.008361 0 0 LRP1B 53353 broad.mit.edu 37 2 141243054 141243054 + Missense_Mutation SNP C C T TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr2:141243054C>T ENST00000389484.3 - 59 10254 c.9283G>A c.(9283-9285)Gat>Aat p.D3095N NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3095 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CCAATCCAATCGACAGCAAGT 0.373000 TSP Lung(27;0.18) 44 13 0 0 0.013114 0 0 MGP 4256 broad.mit.edu 37 12 15035126 15035126 + Missense_Mutation SNP C C T TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr12:15035126C>T ENST00000539261.1 - 4 393 c.259G>A c.(259-261)Gga>Aga p.G87R C12orf60_ENST00000527783.1_Intron|MGP_ENST00000228938.5_Missense_Mutation_p.G112R NM_000900.3 NP_000891.2 P08493 MGP_HUMAN matrix Gla protein 87 Gla. cartilage condensation|cell differentiation|ossification|regulation of bone mineralization proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent|structural constituent of bone large_intestine(1)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 7 GCATTGTATCCATAAACCATG 0.483000 60 170 0 0 0.014410 0 0 ZNF845 91664 broad.mit.edu 37 19 53856730 53856730 + Silent SNP G G A TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr19:53856730G>A ENST00000458035.1 + 4 2919 c.2802G>A c.(2800-2802)aaG>aaA p.K934K ZNF845_ENST00000595091.1_Silent_p.K934K NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 934 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K934K(3) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 TAATTCATAAGACAATTCATA 0.368000 3 33 0 0 0.009096 0 0 DPYD 1806 broad.mit.edu 37 1 97981340 97981340 + Missense_Mutation SNP C C T TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr1:97981340C>T ENST00000370192.3 - 13 1782 c.1682G>A c.(1681-1683)cGa>cAa p.R561Q NM_000110.3 NP_000101.2 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 561 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) AAAAGCTCTTCGAATCATTGA 0.388000 37 17 0 0 0.011902 0 0 FAM216B 144809 broad.mit.edu 37 13 43360951 43360951 + Missense_Mutation SNP A A G TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr13:43360951A>G ENST00000537894.1 + 3 275 c.152A>G c.(151-153)aAc>aGc p.N51S FAM216B_ENST00000313851.1_Missense_Mutation_p.N51S NM_182508.2 NP_872314.1 Q8N7L0 CM030_HUMAN family with sequence similarity 216, member B 51 AGGATTTACAACTCCAGGCCC 0.502000 51 159 0 0 0.014410 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 5 75 0 0 0.000602 0 0 SLC7A8 23428 broad.mit.edu 37 14 23609687 23609687 + Missense_Mutation SNP G G A TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr14:23609687G>A ENST00000316902.7 - 5 1506 c.781C>T c.(781-783)Ccc>Tcc p.P261S SLC7A8_ENST00000469263.1_Missense_Mutation_p.P261S|SLC7A8_ENST00000529705.2_Missense_Mutation_p.P156S|SLC7A8_ENST00000532568.1_5'UTR|SLC7A8_ENST00000453702.1_Missense_Mutation_p.P58S|SLC7A8_ENST00000422941.2_Intron NM_012244.3 NP_036376.2 Q9UHI5 LAT2_HUMAN solute carrier family 7 (amino acid transporter light chain, L system), member 8 261 blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin basolateral plasma membrane|cytoplasm|integral to plasma membrane neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1) 24 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.00809) L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120) CACTTGTAGGGATCAACAAGC 0.557000 61 118 0 0 0.014410 0 0 STAG3L2 442582 broad.mit.edu 37 7 74306378 74306378 + RNA DEL C C - TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr7:74306378delC ENST00000423186.1 - 0 296 P0CL84 ST3L2_HUMAN nucleus binding breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1) 5 GGGCGGGGGGCCCCGCGCTCC 0.731 2 4 --- --- --- --- PRSS3P2 154754 broad.mit.edu 37 7 142481996 142481997 + RNA INS - - C TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr7:142481996_142481997insC ENST00000603901.1 + 0 591 NR_001296.3 TCCCAAGGTGGGGGGCTGAGGA 0.564 8 18 --- --- --- --- KMT2C 58508 broad.mit.edu 37 7 151874148 151874148 + Frame_Shift_Del DEL T T - TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr7:151874148delT ENST00000355193.2 - 38 8608 c.8390delA c.(8389-8391)agfs p.K2797fs KMT2C_ENST00000262189.6_Frame_Shift_Del_p.K2797fs lysine (K)-specific methyltransferase 2C p.K2797fs*26(20) TTCTTGTTCCTTTTTTTTTGG 0.348 8 172 --- --- --- --- ALPK3 57538 broad.mit.edu 37 15 85382960 85382971 + In_Frame_Del DEL CCAGGCCTCTGC CCAGGCCTCTGC - TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr15:85382960_85382971delCCAGGCCTCTGC ENST00000258888.5 + 5 1223_1234 c.1056_1067delCCAGGCCTCTGC c.(1054-1068)tac>ta p.YQASA352del NM_020778.4 NP_065829.3 Q96L96 ALPK3_HUMAN alpha-kinase 3 352 Ig-like 1. heart development nucleus ATP binding|protein serine/threonine kinase activity NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 BRCA - Breast invasive adenocarcinoma(143;0.0587) CCGCCATCTACCAGGCCTCTGCCCAGAACAGC 0.627 11 92 --- --- --- --- KRT16P6 353194 broad.mit.edu 37 17 16725606 16725607 + RNA INS - - C TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 844cd78e-19d6-45e2-9dba-8cd6cdb71a5d d5708200-6909-4714-8798-66f9caa736ca g.chr17:16725606_16725607insC ENST00000417510.1 - 0 286_287 CGCCATAGCCGCCCCCCAGCCT 0.668 10 21 --- --- --- ---