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 FHL1 2273 broad.mit.edu 37 X 135290740 135290740 + Missense_Mutation SNP G G A TCGA-J4-A67N-01A-11D-A30E-08 TCGA-J4-A67N-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f07d2982-6313-4e21-a0a1-cf713daff114 f73b4226-3788-4704-acae-67420da417dd g.chrX:135290740G>A ENST00000543669.1 + 5 1339 c.628G>A c.(628-630)Gtg>Atg p.V210M FHL1_ENST00000370676.3_Intron|FHL1_ENST00000370683.1_Missense_Mutation_p.V226M|FHL1_ENST00000394153.2_Missense_Mutation_p.V210M|FHL1_ENST00000394155.2_Missense_Mutation_p.V210M|FHL1_ENST00000370690.3_Missense_Mutation_p.V210M|FHL1_ENST00000345434.3_Missense_Mutation_p.V210M|FHL1_ENST00000535737.1_Missense_Mutation_p.V210M|FHL1_ENST00000539015.1_Missense_Mutation_p.V239M NM_001159704.1 NP_001153176.1 Q13642 FHL1_HUMAN four and a half LIM domains 1 210 LIM zinc-binding 3. cell differentiation|cell growth|muscle organ development|organ morphogenesis cytosol|nucleus|plasma membrane protein binding|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(192;0.000127) GTATTACTGCGTGGATTGCTA 0.527000 115 42 0 0 1 0 0 UGDH 7358 broad.mit.edu 37 4 39522980 39522980 + Silent SNP A A G TCGA-J4-A67N-01A-11D-A30E-08 TCGA-J4-A67N-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f07d2982-6313-4e21-a0a1-cf713daff114 f73b4226-3788-4704-acae-67420da417dd g.chr4:39522980A>G ENST00000316423.6 - 2 495 c.153T>C c.(151-153)ccT>ccC p.P51P UGDH_ENST00000506179.1_Silent_p.P51P|UGDH_ENST00000515398.1_Intron|UGDH_ENST00000507089.1_Intron|UGDH_ENST00000501493.2_Silent_p.P51P NM_001184701.1|NM_003359.3 NP_001171630.1|NP_003350.1 O60701 UGDH_HUMAN UDP-glucose 6-dehydrogenase 51 glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process cytosol electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2) 27 NADH(DB00157) CCTCATAAATAGGAAGTGTAG 0.303000 13 84 0 0 1 0 0 PALM 5064 broad.mit.edu 37 19 726159 726159 + Silent SNP G G A TCGA-J4-A67N-01A-11D-A30E-08 TCGA-J4-A67N-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f07d2982-6313-4e21-a0a1-cf713daff114 f73b4226-3788-4704-acae-67420da417dd g.chr19:726159G>A ENST00000264560.7 + 2 221 c.27G>A c.(25-27)acG>acA p.T9T PALM_ENST00000338448.5_Silent_p.T9T|PALM_ENST00000606643.1_3'UTR NM_001040134.1 NP_001035224.1 O75781 PALM_HUMAN paralemmin 9 cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201) CAGAGACCACGTCCCAGCAGG 0.672000 33 79 0 0 1 0 0 RP11-204M4.2 0 broad.mit.edu 37 9 41962602 41962602 + RNA SNP G G T TCGA-J4-A67N-01A-11D-A30E-08 TCGA-J4-A67N-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f07d2982-6313-4e21-a0a1-cf713daff114 f73b4226-3788-4704-acae-67420da417dd g.chr9:41962602G>T ENST00000454645.1 - 0 902 NR_003670.1 TTCTTTCTTTGTTTTTTTTCC 0.373000 5 49 0.184627 0.188178 1 1 0 NCAPH 23397 broad.mit.edu 37 2 97019969 97019969 + Missense_Mutation SNP G G T TCGA-J4-A67N-01A-11D-A30E-08 TCGA-J4-A67N-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f07d2982-6313-4e21-a0a1-cf713daff114 f73b4226-3788-4704-acae-67420da417dd g.chr2:97019969G>T ENST00000455200.1 + 9 1313 c.1018G>T c.(1018-1020)Gac>Tac p.D340Y NCAPH_ENST00000240423.4_Missense_Mutation_p.D351Y|NCAPH_ENST00000427946.1_Missense_Mutation_p.D215Y Q15003 CND2_HUMAN non-SMC condensin I complex, subunit H 351 cell division|mitotic chromosome condensation condensin complex|cytoplasm|microtubule cytoskeleton|nucleus haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Ovarian(717;0.0221) CCAGGTATTTGACATCAATGC 0.493000 56 147 1.72845e-40 1.99147e-40 1 1 0 MAML3 55534 broad.mit.edu 37 4 140811099 140811099 + Splice_Site SNP C C T TCGA-J4-A67N-01A-11D-A30E-08 TCGA-J4-A67N-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f07d2982-6313-4e21-a0a1-cf713daff114 f73b4226-3788-4704-acae-67420da417dd g.chr4:140811099C>T ENST00000398940.1 - 1 107 c.108_splice c.e1+1 p.Q36_splice MAML3_ENST00000327122.5_Silent_p.Q341Q|MAML3_ENST00000509479.2_Silent_p.Q497Q Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 497 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity p.Q497Q(2) breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) gctgctgctgctgctgctgct 0.542000 4 71 0 0 1 0 0 CCT8L2 150160 broad.mit.edu 37 22 17073401 17073401 + Missense_Mutation SNP G G A TCGA-J4-A67N-01A-11D-A30E-08 TCGA-J4-A67N-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f07d2982-6313-4e21-a0a1-cf713daff114 f73b4226-3788-4704-acae-67420da417dd g.chr22:17073401G>A ENST00000359963.3 - 1 299 c.40C>T c.(40-42)Cgg>Tgg p.R14W NM_014406.4 NP_055221.1 Q96SF2 TCPQM_HUMAN chaperonin containing TCP1, subunit 8 (theta)-like 2 14 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) AGTGCCAGCCGCTGGGGCAGC 0.637000 25 37 0 0 1 0 0 SLC11A1 6556 broad.mit.edu 37 2 219259418 219259418 + Silent SNP G G T TCGA-J4-A67N-01A-11D-A30E-08 TCGA-J4-A67N-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f07d2982-6313-4e21-a0a1-cf713daff114 f73b4226-3788-4704-acae-67420da417dd g.chr2:219259418G>T ENST00000233202.6 + 14 1792 c.1452G>T c.(1450-1452)gtG>gtT p.V484V SLC11A1_ENST00000539932.1_Silent_p.V366V NM_000578.3 NP_000569.3 P49279 NRAM1_HUMAN solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1 484 activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 19 Renal(207;0.0474) Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TCTACTTCGTGGTCAGCTATC 0.612000 12 121 9.31168e-06 1.02816e-05 1 1 0 FOXP2 93986 broad.mit.edu 37 7 114270015 114270015 + Silent SNP A A G rs146945410 byFrequency TCGA-J4-A67N-01A-11D-A30E-08 TCGA-J4-A67N-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f07d2982-6313-4e21-a0a1-cf713daff114 f73b4226-3788-4704-acae-67420da417dd g.chr7:114270015A>G ENST00000393500.3 + 11 1147 c.327A>G c.(325-327)caA>caG p.Q109Q FOXP2_ENST00000378237.3_Silent_p.Q184Q|FOXP2_ENST00000350908.4_Silent_p.Q184Q|FOXP2_ENST00000390668.3_Silent_p.Q208Q|FOXP2_ENST00000393498.2_Silent_p.Q164Q|FOXP2_ENST00000360232.4_Silent_p.Q184Q|FOXP2_ENST00000408937.3_Silent_p.Q209Q|FOXP2_ENST00000403559.4_Silent_p.Q201Q|FOXP2_ENST00000393491.3_Silent_p.Q92Q|FOXP2_ENST00000393489.3_Silent_p.Q92Q|FOXP2_ENST00000393494.2_Silent_p.Q184Q O15409 FOXP2_HUMAN forkhead box P2 184 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 agcagcagcaacagcagcagc 0.502000 4 76 0 0 1 0 0 AIM1 202 broad.mit.edu 37 6 106968542 106968542 + Missense_Mutation SNP T T G TCGA-J4-A67N-01A-11D-A30E-08 TCGA-J4-A67N-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f07d2982-6313-4e21-a0a1-cf713daff114 f73b4226-3788-4704-acae-67420da417dd g.chr6:106968542T>G ENST00000369066.3 + 2 2722 c.2235T>G c.(2233-2235)gaT>gaG p.D745E NM_001624.2 NP_001615.1 Q9Y4K1 AIM1_HUMAN absent in melanoma 1 745 sugar binding breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 69 Breast(9;0.0138)|all_epithelial(6;0.169) all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473) Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305) all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858) AGGTGTTTGATCCCAAAGTGT 0.443000 4 104 0 0 1 0 0 SCNN1B 0 broad.mit.edu 37 16 23391983 23391983 + Missense_Mutation SNP C C T TCGA-J4-A67N-01A-11D-A30E-08 TCGA-J4-A67N-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f07d2982-6313-4e21-a0a1-cf713daff114 f73b4226-3788-4704-acae-67420da417dd g.chr16:23391983C>T ENST00000343070.2 + 13 1960 c.1784C>T c.(1783-1785)gCc>gTc p.A595V SCNN1B_ENST00000568085.1_Missense_Mutation_p.A559V|SCNN1B_ENST00000307331.5_Missense_Mutation_p.A640V|SCNN1B_ENST00000568923.1_Missense_Mutation_p.A568V NM_000336.2 NP_000327.2 P51168 SCNNB_HUMAN sodium channel, non-voltage-gated 1, beta subunit 595 excretion|sensory perception of taste apical plasma membrane ligand-gated sodium channel activity|WW domain binding breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 32 GBM - Glioblastoma multiforme(48;0.0465) Amiloride(DB00594)|Triamterene(DB00384) CCTGACACGGCCCCCCGCAGC 0.711000 26 59 0 0 1 0 0 OR5AK2 390181 broad.mit.edu 37 11 56756464 56756464 + Missense_Mutation SNP A A G TCGA-J4-A67N-01A-11D-A30E-08 TCGA-J4-A67N-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f07d2982-6313-4e21-a0a1-cf713daff114 f73b4226-3788-4704-acae-67420da417dd g.chr11:56756464A>G ENST00000326855.2 + 1 118 c.76A>G c.(76-78)Atc>Gtc p.I26V NM_001005323.1 NP_001005323.1 Q8NH90 O5AK2_HUMAN olfactory receptor, family 5, subfamily AK, member 2 26 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 GTTTTGGTGTATCCTCTTCAT 0.398000 4 135 0 0 1 0 0 GJA4 2701 broad.mit.edu 37 1 35260022 35260022 + Missense_Mutation SNP T T G TCGA-J4-A67N-01A-11D-A30E-08 TCGA-J4-A67N-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f07d2982-6313-4e21-a0a1-cf713daff114 f73b4226-3788-4704-acae-67420da417dd g.chr1:35260022T>G ENST00000342280.4 + 2 296 c.208T>G c.(208-210)Ttc>Gtc p.F70V NM_002060.2 NP_002051.2 P35212 CXA4_HUMAN gap junction protein, alpha 4, 37kDa 70 cell-cell junction assembly integral to plasma membrane NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1) 14 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234) TGACCAGGCCTTCCCCATCTC 0.607000 5 112 0 0 1 0 0 NOS2 4843 broad.mit.edu 37 17 26099431 26099431 + Missense_Mutation SNP C C T TCGA-J4-A67N-01A-11D-A30E-08 TCGA-J4-A67N-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f07d2982-6313-4e21-a0a1-cf713daff114 f73b4226-3788-4704-acae-67420da417dd g.chr17:26099431C>T ENST00000313735.6 - 14 1840 c.1607G>A c.(1606-1608)cGa>cAa p.R536Q NM_000625.4 NP_000616.3 P35228 NOS2_HUMAN nitric oxide synthase 2, inducible 536 arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process cytosol|nucleus arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 56 Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155) GACTCTGACTCGGGACGCCAT 0.572000 17 43 0 0 1 0 0 CCDC144A 9720 broad.mit.edu 37 17 16593944 16593944 + Missense_Mutation SNP G G T TCGA-J4-A67N-01A-11D-A30E-08 TCGA-J4-A67N-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f07d2982-6313-4e21-a0a1-cf713daff114 f73b4226-3788-4704-acae-67420da417dd g.chr17:16593944G>T ENST00000443444.2 + 1 370 c.230G>T c.(229-231)cGc>cTc p.R77L CCDC144A_ENST00000436374.1_3'UTR|CCDC144A_ENST00000360524.8_Missense_Mutation_p.R77L|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.R77L|CCDC144A_ENST00000399273.1_Missense_Mutation_p.R77L|CCDC144A_ENST00000456009.1_Missense_Mutation_p.R77L|CCDC144A_ENST00000340621.5_Missense_Mutation_p.R77L A2RUR9 C144A_HUMAN coiled-coil domain containing 144A 77 CACGACGTCCGCCTGGAAGAT 0.647000 7 167 0.248553 0.248553 1 1 0 PCDH11X 27328 broad.mit.edu 37 X 91133813 91133813 + Silent SNP C C T TCGA-J4-A67N-01A-11D-A30E-08 TCGA-J4-A67N-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f07d2982-6313-4e21-a0a1-cf713daff114 f73b4226-3788-4704-acae-67420da417dd g.chrX:91133813C>T ENST00000373094.1 + 2 3419 c.2574C>T c.(2572-2574)aaC>aaT p.N858N PCDH11X_ENST00000395337.2_Silent_p.N858N|PCDH11X_ENST00000361724.1_Silent_p.N858N|PCDH11X_ENST00000406881.1_Silent_p.N858N|PCDH11X_ENST00000298274.8_Silent_p.N858N|PCDH11X_ENST00000373097.1_Silent_p.N858N|PCDH11X_ENST00000373088.1_Silent_p.N858N|PCDH11X_ENST00000361655.2_Silent_p.N858N|PCDH11X_ENST00000504220.1_Silent_p.N858N NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 858 homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 CTACCCCAAACCCAGAAAACA 0.393000 31 13 0 0 1 0 0 GNGT1 2792 broad.mit.edu 37 7 93536062 93536062 + Missense_Mutation SNP C C A TCGA-J4-A67N-01A-11D-A30E-08 TCGA-J4-A67N-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f07d2982-6313-4e21-a0a1-cf713daff114 f73b4226-3788-4704-acae-67420da417dd g.chr7:93536062C>A ENST00000455502.1 + 3 258 c.4C>A c.(4-6)Cca>Aca p.P2T GNGT1_ENST00000428834.1_Missense_Mutation_p.P2T|GNGT1_ENST00000429473.1_Missense_Mutation_p.P2T|GNGT1_ENST00000430875.1_Missense_Mutation_p.P2T|GNGT1_ENST00000248572.5_Missense_Mutation_p.P2T P63211 GBG1_HUMAN guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 1 2 G-protein coupled receptor protein signaling pathway|synaptic transmission heterotrimeric G-protein complex GTPase activity|signal transducer activity endometrium(1)|large_intestine(1)|lung(3)|prostate(1) 6 all_cancers(62;2.39e-10)|all_epithelial(64;1.54e-09)|Lung NSC(181;0.218) STAD - Stomach adenocarcinoma(171;0.000967) CAAAAAGATGCCAGTAATCAA 0.403000 20 66 8.00594e-06 9.02797e-06 1 1 0 EIF4G3 8672 broad.mit.edu 37 1 21329207 21329207 + Splice_Site SNP G G A TCGA-J4-A67N-01A-11D-A30E-08 TCGA-J4-A67N-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f07d2982-6313-4e21-a0a1-cf713daff114 f73b4226-3788-4704-acae-67420da417dd g.chr1:21329207G>A ENST00000602326.1 - 5 612 c.30_splice c.e5+1 p.P10_splice EIF4G3_ENST00000356916.3_Splice_Site_p.P10_splice|EIF4G3_ENST00000400422.1_Splice_Site_p.P10_splice|EIF4G3_ENST00000264211.8_Splice_Site_p.P10_splice|EIF4G3_ENST00000374927.4_Splice_Site_p.P10_splice|EIF4G3_ENST00000374935.3_Splice_Site_p.P10_splice|EIF4G3_ENST00000374937.3_Splice_Site_p.P10_splice NM_001198802.1 NP_001185731.1 O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 gamma, 3 10 interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|RNA cap binding|translation initiation factor activity endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3) 70 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) CTTACTTACCGGAGAACGGGT 0.448000 13 248 0 0 1 0 0 TSSC2 0 broad.mit.edu 37 11 3427759 3427759 + RNA SNP C C T TCGA-J4-A67N-01A-11D-A30E-08 TCGA-J4-A67N-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f07d2982-6313-4e21-a0a1-cf713daff114 f73b4226-3788-4704-acae-67420da417dd g.chr11:3427759C>T ENST00000529482.1 + 0 876 TGTCTGCACACGTCCTGCAGT 0.612000 3 48 0 0 1 0 0 KRT15 3866 broad.mit.edu 37 17 39673194 39673194 + Missense_Mutation SNP G G A TCGA-J4-A67N-01A-11D-A30E-08 TCGA-J4-A67N-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f07d2982-6313-4e21-a0a1-cf713daff114 f73b4226-3788-4704-acae-67420da417dd g.chr17:39673194G>A ENST00000254043.3 - 3 4189 c.604C>T c.(604-606)Cgc>Tgc p.R202C KRT15_ENST00000393981.3_Missense_Mutation_p.R37C|KRT15_ENST00000393974.3_Missense_Mutation_p.R37C|KRT15_ENST00000393976.2_Missense_Mutation_p.R202C NM_002275.3 NP_002266.2 P19012 K1C15_HUMAN keratin 15 202 Coil 1B.|Rod. epidermis development intermediate filament protein binding|structural constituent of cytoskeleton NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Breast(137;0.000286) ACGCCCTGGCGCAGGGCCAGC 0.597000 4 111 0 0 1 0 0 CHEK2P2 0 broad.mit.edu 37 15 20488802 20488802 + RNA SNP T T C TCGA-J4-A67N-01A-11D-A30E-08 TCGA-J4-A67N-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f07d2982-6313-4e21-a0a1-cf713daff114 f73b4226-3788-4704-acae-67420da417dd g.chr15:20488802T>C ENST00000555186.1 + 0 285 NR_038836.1 TCATGAGAACTTTATGTGGAA 0.423000 4 112 0 0 1 0 0 SPATA31A6 389730 broad.mit.edu 37 9 43627263 43627263 + Missense_Mutation SNP C C T TCGA-J4-A67N-01A-11D-A30E-08 TCGA-J4-A67N-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f07d2982-6313-4e21-a0a1-cf713daff114 f73b4226-3788-4704-acae-67420da417dd g.chr9:43627263C>T ENST00000332857.6 - 4 1452 c.1424G>A c.(1423-1425)cGc>cAc p.R475H NM_001145196.1 NP_001138668.1 SPATA31 subfamily A, member 6 AAAGGGTTGGCGGTGGGACAG 0.527000 215 332 0 0 1 0 0 ZNF814 730051 broad.mit.edu 37 19 58385546 58385546 + Missense_Mutation SNP G G T TCGA-J4-A67N-01A-11D-A30E-08 TCGA-J4-A67N-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f07d2982-6313-4e21-a0a1-cf713daff114 f73b4226-3788-4704-acae-67420da417dd g.chr19:58385546G>T ENST00000435989.2 - 3 1446 c.1212C>A c.(1210-1212)gaC>gaA p.D404E ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 404 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.D404E(10) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 AATGTTTTTTGTCAGTGTGAA 0.393000 6 21 0.0215528 0.022398 1 1 0 FCGBP 8857 broad.mit.edu 37 19 40357401 40357401 + Silent SNP C C A TCGA-J4-A67N-01A-11D-A30E-08 TCGA-J4-A67N-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f07d2982-6313-4e21-a0a1-cf713daff114 f73b4226-3788-4704-acae-67420da417dd g.chr19:40357401C>A ENST00000221347.6 - 34 15919 c.15912G>T c.(15910-15912)acG>acT p.T5304T NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 5304 VWFD 13. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) TTGGAGTCAACGTCACCATCC 0.542000 4 82 0.00909568 0.00964142 1 1 0 LPHN3 23284 broad.mit.edu 37 4 62812714 62812714 + Silent SNP G G A rs35637502 TCGA-J4-A67N-01A-11D-A30E-08 TCGA-J4-A67N-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f07d2982-6313-4e21-a0a1-cf713daff114 f73b4226-3788-4704-acae-67420da417dd g.chr4:62812714G>A ENST00000512091.1 + 15 3045 c.2298G>A c.(2296-2298)acG>acA p.T766T LPHN3_ENST00000507625.1_Silent_p.T834T|LPHN3_ENST00000514591.1_Silent_p.T766T|LPHN3_ENST00000514157.1_Silent_p.T766T|LPHN3_ENST00000506746.1_Silent_p.T834T|LPHN3_ENST00000545650.1_Silent_p.T766T|LPHN3_ENST00000508078.1_3'UTR|LPHN3_ENST00000504896.1_Silent_p.T766T|LPHN3_ENST00000511324.1_Silent_p.T834T|LPHN3_ENST00000507164.1_Silent_p.T834T|LPHN3_ENST00000514996.1_Silent_p.T766T|LPHN3_ENST00000509896.1_Silent_p.T834T|LPHN3_ENST00000506700.1_Silent_p.T766T|LPHN3_ENST00000508693.1_Silent_p.T834T|LPHN3_ENST00000508946.1_Silent_p.T766T|LPHN3_ENST00000506720.1_Silent_p.T834T Q9HAR2 LPHN3_HUMAN latrophilin 3 753 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 AGTTGGGAACGGAAGCTTTGT 0.403000 9 246 0 0 1 0 0 EFEMP1 2202 broad.mit.edu 37 2 56104979 56104979 + Missense_Mutation SNP G G A TCGA-J4-A67N-01A-11D-A30E-08 TCGA-J4-A67N-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f07d2982-6313-4e21-a0a1-cf713daff114 f73b4226-3788-4704-acae-67420da417dd g.chr2:56104979G>A ENST00000394555.2 - 6 1097 c.662C>T c.(661-663)cCt>cTt p.P221L EFEMP1_ENST00000424836.2_Intron|EFEMP1_ENST00000355426.3_Missense_Mutation_p.P221L|EFEMP1_ENST00000394554.1_Missense_Mutation_p.P221L NM_001039348.2|NM_001039349.2 NP_001034437.1|NP_001034438.1 Q12805 FBLN3_HUMAN EGF containing fibulin-like extracellular matrix protein 1 221 EGF-like 3; calcium-binding (Potential). negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception extracellular space|proteinaceous extracellular matrix calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) GCAATATGGAGGGATGGTACA 0.408000 51 115 0 0 1 0 0 PPARGC1A 10891 broad.mit.edu 37 4 23886556 23886556 + Splice_Site SNP T T C TCGA-J4-A67N-01A-11D-A30E-08 TCGA-J4-A67N-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f07d2982-6313-4e21-a0a1-cf713daff114 f73b4226-3788-4704-acae-67420da417dd g.chr4:23886556T>C ENST00000264867.2 - 2 174 c.e2-2 PPARGC1A_ENST00000507380.1_Splice_Site NM_013261.3 NP_037393.1 Q9UBK2 PRGC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 alpha androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5) 51 Breast(46;0.0503) AGCAGCACACTGCAGGAGGCA 0.388000 12 32 0 0 1 0 0 ARHGEF9 23229 broad.mit.edu 37 X 62863890 62863890 + Missense_Mutation SNP T T C TCGA-J4-A67N-01A-11D-A30E-08 TCGA-J4-A67N-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f07d2982-6313-4e21-a0a1-cf713daff114 f73b4226-3788-4704-acae-67420da417dd g.chrX:62863890T>C ENST00000253401.6 - 9 2139 c.1339A>G c.(1339-1341)Atg>Gtg p.M447V ARHGEF9_ENST00000437457.2_Missense_Mutation_p.M394V|ARHGEF9_ENST00000374870.4_Missense_Mutation_p.M345V|ARHGEF9_ENST00000374878.1_Missense_Mutation_p.M445V|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.M426V|ARHGEF9_ENST00000433323.2_Missense_Mutation_p.M174V|ARHGEF9_ENST00000495564.1_5'UTR NM_015185.2 NP_056000.1 O43307 ARHG9_HUMAN Cdc42 guanine nucleotide exchange factor (GEF) 9 447 apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1) 35 CTCACAGTCATTGCAGCCTGC 0.358000 4 22 0 0 1 0 0 FGF9 2254 broad.mit.edu 37 13 22246172 22246172 + Missense_Mutation SNP G G A TCGA-J4-A67N-01A-11D-A30E-08 TCGA-J4-A67N-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f07d2982-6313-4e21-a0a1-cf713daff114 f73b4226-3788-4704-acae-67420da417dd g.chr13:22246172G>A ENST00000382353.5 + 1 651 c.121G>A c.(121-123)Gaa>Aaa p.E41K NM_002010.2 NP_002001.1 P31371 FGF9_HUMAN fibroblast growth factor 9 41 cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division extracellular space growth factor activity|heparin binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2) 9 all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106) all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163) GGGTCAGTCCGAAGCAGGGGG 0.572000 6 107 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36873598 36873598 + Silent SNP C C A TCGA-J4-A67N-01A-11D-A30E-08 TCGA-J4-A67N-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f07d2982-6313-4e21-a0a1-cf713daff114 f73b4226-3788-4704-acae-67420da417dd g.chr3:36873598C>A ENST00000301807.6 - 21 7591 c.5694G>T c.(5692-5694)ctG>ctT p.L1898L TRANK1_ENST00000428977.2_Silent_p.L1898L|TRANK1_ENST00000429976.2_Silent_p.L2448L NM_014831.2 NP_055646.2 O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 2448 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 TCTTGCTAAACAGGAACTCCC 0.507000 7 119 0.00198382 0.00214576 1 1 0 SORT1 6272 broad.mit.edu 37 1 109867585 109867585 + Missense_Mutation SNP T T G TCGA-J4-A67N-01A-11D-A30E-08 TCGA-J4-A67N-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f07d2982-6313-4e21-a0a1-cf713daff114 f73b4226-3788-4704-acae-67420da417dd g.chr1:109867585T>G ENST00000256637.6 - 14 1828 c.1770A>C c.(1768-1770)gaA>gaC p.E590D SORT1_ENST00000538502.1_Missense_Mutation_p.E453D NM_002959.5 NP_002950.3 Q99523 SORT_HUMAN sortilin 1 590 endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1) 26 all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184) TCAGGAAAGATTCTGTGAAGC 0.463000 22 23 0 0 1 0 0 PAPD7 11044 broad.mit.edu 37 5 6748612 6748612 + Nonsense_Mutation SNP C C T TCGA-J4-A67N-01A-11D-A30E-08 TCGA-J4-A67N-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f07d2982-6313-4e21-a0a1-cf713daff114 f73b4226-3788-4704-acae-67420da417dd g.chr5:6748612C>T ENST00000230859.6 + 8 874 c.745C>T c.(745-747)Cag>Tag p.Q249* NM_001171805.1|NM_001171806.1|NM_006999.4 NP_001165276.1|NP_001165277.1|NP_008930.1 Q5XG87 PAPD7_HUMAN PAP associated domain containing 7 249 cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion nucleus DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 TGGCGCCATGCAGGTGAAGCA 0.542000 5 323 0 0 1 0 0 ALMS1 7840 broad.mit.edu 37 2 73646386 73646386 + Missense_Mutation SNP A A G TCGA-J4-A67N-01A-11D-A30E-08 TCGA-J4-A67N-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f07d2982-6313-4e21-a0a1-cf713daff114 f73b4226-3788-4704-acae-67420da417dd g.chr2:73646386A>G ENST00000264448.6 + 3 697 c.586A>G c.(586-588)Acg>Gcg p.T196A ALMS1_ENST00000409009.1_Missense_Mutation_p.T154A|ALMS1_ENST00000377715.1_Missense_Mutation_p.T196A NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 196 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 GGGCATATTGACGCAATCAGA 0.428000 4 80 0 0 1 0 0 FOXP2 93986 broad.mit.edu 37 7 114270018 114270018 + Silent SNP G G A TCGA-J4-A67N-01A-11D-A30E-08 TCGA-J4-A67N-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f07d2982-6313-4e21-a0a1-cf713daff114 f73b4226-3788-4704-acae-67420da417dd g.chr7:114270018G>A ENST00000393500.3 + 11 1150 c.330G>A c.(328-330)caG>caA p.Q110Q FOXP2_ENST00000378237.3_Silent_p.Q185Q|FOXP2_ENST00000350908.4_Silent_p.Q185Q|FOXP2_ENST00000390668.3_Silent_p.Q209Q|FOXP2_ENST00000393498.2_Silent_p.Q165Q|FOXP2_ENST00000360232.4_Silent_p.Q185Q|FOXP2_ENST00000408937.3_Silent_p.Q210Q|FOXP2_ENST00000403559.4_Silent_p.Q202Q|FOXP2_ENST00000393491.3_Silent_p.Q93Q|FOXP2_ENST00000393489.3_Silent_p.Q93Q|FOXP2_ENST00000393494.2_Silent_p.Q185Q O15409 FOXP2_HUMAN forkhead box P2 185 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding p.Q210Q(2) breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 agcagcaacagcagcagcagc 0.502000 4 79 0 0 1 0 0 TEX9 374618 broad.mit.edu 37 15 56657675 56657675 + Splice_Site SNP G G C TCGA-J4-A67N-01A-11D-A30E-08 TCGA-J4-A67N-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f07d2982-6313-4e21-a0a1-cf713daff114 f73b4226-3788-4704-acae-67420da417dd g.chr15:56657675G>C ENST00000561221.2 + 1 32 c.27_splice c.e1+1 p.T9_splice TEX9_ENST00000352903.2_Splice_Site_p.T9_splice|TEX9_ENST00000537232.1_5'UTR|TEX9_ENST00000558083.2_5'UTR Q8N6V9 TEX9_HUMAN testis expressed 9 9 cervix(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1) 14 all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056) TGTGTCTCACGGTCAGTTCAA 0.587000 11 43 0 0 1 0 0 MUC5AC 4586 broad.mit.edu 37 11 1157545 1157545 + Missense_Mutation SNP C C T TCGA-J4-A67N-01A-11D-A30E-08 TCGA-J4-A67N-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f07d2982-6313-4e21-a0a1-cf713daff114 f73b4226-3788-4704-acae-67420da417dd g.chr11:1157545C>T ENST00000356191.2 + 12 716 c.716C>T c.(715-717)aCg>aTg p.T239M mucin 5AC, oligomeric mucus/gel-forming NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 203 all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724) AGAAGATGGACGACCCCACGG 0.627000 5 25 0 0 1 0 0 AOAH 313 broad.mit.edu 37 7 36561718 36561718 + Missense_Mutation SNP A A G TCGA-J4-A67N-01A-11D-A30E-08 TCGA-J4-A67N-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f07d2982-6313-4e21-a0a1-cf713daff114 f73b4226-3788-4704-acae-67420da417dd g.chr7:36561718A>G ENST00000431169.1 - 20 1826 c.1526T>C c.(1525-1527)aTa>aCa p.I509T AOAH_ENST00000538464.1_Missense_Mutation_p.I231T|AOAH_ENST00000535891.1_Missense_Mutation_p.I477T|AOAH_ENST00000258749.5_Missense_Mutation_p.I509T NM_001177506.1 NP_001170977.1 P28039 AOAH_HUMAN acyloxyacyl hydrolase (neutrophil) 509 inflammatory response|lipid metabolic process extracellular region acyloxyacyl hydrolase activity|lipoprotein lipase activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 41 CCACTCCTGTATGACTGCAGG 0.582000 5 52 0 0 1 0 0 TMEM171 134285 broad.mit.edu 37 5 72419573 72419573 + Missense_Mutation SNP C C G TCGA-J4-A67N-01A-11D-A30E-08 TCGA-J4-A67N-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f07d2982-6313-4e21-a0a1-cf713daff114 f73b4226-3788-4704-acae-67420da417dd g.chr5:72419573C>G ENST00000454765.2 + 2 846 c.373C>G c.(373-375)Ctc>Gtc p.L125V TMEM171_ENST00000287773.5_Missense_Mutation_p.L125V Q8WVE6 TM171_HUMAN transmembrane protein 171 125 integral to membrane endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1) 15 Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165) OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115) AAGCGGCATGCTCATCAGCGT 0.587000 6 122 0 0 1 0 0 AC093838.4 0 broad.mit.edu 37 2 132275379 132275379 + RNA SNP C C G rs142886923 by1000genomes TCGA-J4-A67N-01A-11D-A30E-08 TCGA-J4-A67N-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f07d2982-6313-4e21-a0a1-cf713daff114 f73b4226-3788-4704-acae-67420da417dd g.chr2:132275379C>G ENST00000438378.2 + 0 1652 NR_026922.1 CCGCACAGACCTGGTTAGCCC 0.582000 19 32 0 0 1 0 0 ABLIM1 3983 broad.mit.edu 37 10 116207677 116207677 + Missense_Mutation SNP G G A TCGA-J4-A67N-01A-11D-A30E-08 TCGA-J4-A67N-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f07d2982-6313-4e21-a0a1-cf713daff114 f73b4226-3788-4704-acae-67420da417dd g.chr10:116207677G>A ENST00000369252.4 - 15 1818 c.1517C>T c.(1516-1518)aCg>aTg p.T506M ABLIM1_ENST00000392952.3_Missense_Mutation_p.T243M|ABLIM1_ENST00000369253.2_Missense_Mutation_p.T189M|ABLIM1_ENST00000277895.5_Missense_Mutation_p.T566M|ABLIM1_ENST00000533213.2_Missense_Mutation_p.T506M|ABLIM1_ENST00000369266.3_Missense_Mutation_p.T243M NM_001003407.1|NM_001003408.1 NP_001003407.1|NP_001003408.1 O14639 ABLM1_HUMAN actin binding LIM protein 1 566 axon guidance|cytoskeleton organization|organ morphogenesis|visual perception actin cytoskeleton|cytoplasm actin binding|zinc ion binding breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 30 Colorectal(252;0.0373)|Breast(234;0.231) Epithelial(162;0.0132)|all cancers(201;0.0383) CCAGTGGTCCGTCTCAATCTT 0.542000 27 60 0 0 1 0 0 RBM44 375316 broad.mit.edu 37 2 238737984 238737984 + Missense_Mutation SNP T T A TCGA-J4-A67N-01A-11D-A30E-08 TCGA-J4-A67N-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f07d2982-6313-4e21-a0a1-cf713daff114 f73b4226-3788-4704-acae-67420da417dd g.chr2:238737984T>A ENST00000316997.4 + 13 2860 c.2728T>A c.(2728-2730)Tca>Aca p.S910T RBM44_ENST00000409864.1_Missense_Mutation_p.S910T NM_001080504.2 NP_001073973.2 Q6ZP01 RBM44_HUMAN RNA binding motif protein 44 909 nucleotide binding|RNA binding breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266) AGAATATACATCACCACTTTC 0.348000 7 53 0 0 1 0 0 GRIA1 0 broad.mit.edu 37 5 153144159 153144159 + Silent SNP G G A TCGA-J4-A67N-01A-11D-A30E-08 TCGA-J4-A67N-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f07d2982-6313-4e21-a0a1-cf713daff114 f73b4226-3788-4704-acae-67420da417dd g.chr5:153144159G>A ENST00000285900.5 + 12 2332 c.1989G>A c.(1987-1989)acG>acA p.T663T GRIA1_ENST00000518783.1_Silent_p.T673T|GRIA1_ENST00000340592.5_Silent_p.T663T|GRIA1_ENST00000521843.2_Silent_p.T594T|GRIA1_ENST00000518142.1_Silent_p.T583T|GRIA1_ENST00000448073.4_Silent_p.T673T NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 663 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) CCTACGGGACGCTGGAAGCAG 0.502000 18 41 0 0 1 0 0 FAM111A 63901 broad.mit.edu 37 11 58920765 58920765 + Missense_Mutation SNP G G A TCGA-J4-A67N-01A-11D-A30E-08 TCGA-J4-A67N-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f07d2982-6313-4e21-a0a1-cf713daff114 f73b4226-3788-4704-acae-67420da417dd g.chr11:58920765G>A ENST00000528737.1 + 5 4442 c.1624G>A c.(1624-1626)Ggc>Agc p.G542S FAM111A_ENST00000531147.1_Missense_Mutation_p.G542S|FAM111A_ENST00000361723.3_Missense_Mutation_p.G542S|FAM111A_ENST00000533703.1_Missense_Mutation_p.G542S|FAM111A_ENST00000420244.1_Missense_Mutation_p.G542S Q96PZ2 F111A_HUMAN family with sequence similarity 111, member A 542 proteolysis serine-type endopeptidase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_epithelial(135;0.139) TGGGGCTTCCGGCTCCCCTGT 0.413000 4 148 0 0 1 0 0 FOXP2 93986 broad.mit.edu 37 7 114270000 114270000 + Silent SNP G G A TCGA-J4-A67N-01A-11D-A30E-08 TCGA-J4-A67N-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f07d2982-6313-4e21-a0a1-cf713daff114 f73b4226-3788-4704-acae-67420da417dd g.chr7:114270000G>A ENST00000393500.3 + 11 1132 c.312G>A c.(310-312)caG>caA p.Q104Q FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000393494.2_Silent_p.Q179Q|AC020606.1_ENST00000580664.1_RNA O15409 FOXP2_HUMAN forkhead box P2 179 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding p.Q204Q(1) breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 agcaacaacagcagcagcagc 0.498000 4 70 0 0 1 0 0 ATP6V1C2 245973 broad.mit.edu 37 2 10917819 10917820 + Frame_Shift_Del DEL AG AG - TCGA-J4-A67N-01A-11D-A30E-08 TCGA-J4-A67N-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f07d2982-6313-4e21-a0a1-cf713daff114 f73b4226-3788-4704-acae-67420da417dd g.chr2:10917819_10917820delAG ENST00000272238.4 + 11 1043_1044 c.934_935delAG c.(934-936)afs p.R312fs ATP6V1C2_ENST00000381661.3_Intron NM_001039362.1 NP_001034451.1 Q8NEY4 VATC2_HUMAN ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 312 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|proton-transporting V-type ATPase, V1 domain endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152) GCAGACCGACAGAGAGAGAGAG 0.604 8 110 --- --- --- --- FAM53A 152877 broad.mit.edu 37 4 1657001 1657001 + Frame_Shift_Del DEL C C - TCGA-J4-A67N-01A-11D-A30E-08 TCGA-J4-A67N-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f07d2982-6313-4e21-a0a1-cf713daff114 f73b4226-3788-4704-acae-67420da417dd g.chr4:1657001delC ENST00000308132.6 - 4 778 c.586delG c.(586-588)acfs p.D196fs FAM53A_ENST00000461064.1_Frame_Shift_Del_p.D196fs|FAM53A_ENST00000489363.1_Frame_Shift_Del_p.D196fs|FAM53A_ENST00000472884.2_Frame_Shift_Del_p.D196fs NM_001174070.1 NP_001167541.1 Q6NSI3 FA53A_HUMAN family with sequence similarity 53, member A 196 nucleus breast(2)|central_nervous_system(2)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 all_epithelial(65;0.206)|Breast(71;0.212) OV - Ovarian serous cystadenocarcinoma(23;0.0145) TCGCTGCTGTCCACGAAGCCG 0.746 2 4 --- --- --- --- MSH5-SAPCD1 0 broad.mit.edu 37 6 31709057 31709058 + Frame_Shift_Ins INS - - AG TCGA-J4-A67N-01A-11D-A30E-08 TCGA-J4-A67N-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f07d2982-6313-4e21-a0a1-cf713daff114 f73b4226-3788-4704-acae-67420da417dd g.chr6:31709057_31709058insAG ENST00000493662.2 + 3 321_322 c.265_266insAG c.(265-267)gagfs p.E89fs MSH5_ENST00000375703.3_Frame_Shift_Ins_p.E89fs|MSH5_ENST00000375740.3_Frame_Shift_Ins_p.E89fs|MSH5_ENST00000375742.3_Frame_Shift_Ins_p.E89fs|MSH5_ENST00000375750.3_Frame_Shift_Ins_p.E89fs|MSH5_ENST00000375755.3_Frame_Shift_Ins_p.E89fs|MSH5_ENST00000534153.4_Frame_Shift_Ins_p.E89fs|MSH5_ENST00000482280.1_3'UTR CAAGCTTCTCCAGAGAGGTGGG 0.500 28 125 --- --- --- --- CHST15 51363 broad.mit.edu 37 10 125780846 125780852 + Frame_Shift_Del DEL GCTGCAG GCTGCAG - TCGA-J4-A67N-01A-11D-A30E-08 TCGA-J4-A67N-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f07d2982-6313-4e21-a0a1-cf713daff114 f73b4226-3788-4704-acae-67420da417dd g.chr10:125780846_125780852delGCTGCAG ENST00000346248.5 - 6 1909_1915 c.1267_1273delCTGCAGC c.(1267-1275)tgfs p.LQL423fs CHST15_ENST00000421115.1_Frame_Shift_Del_p.LQL423fs|CHST15_ENST00000435907.1_Frame_Shift_Del_p.LQL423fs NM_001270764.1|NM_015892.3 NP_001257693.1|NP_056976.2 Q7LFX5 CHSTF_HUMAN carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15 423 hexose biosynthetic process Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1) 26 TTTTCAAACAGCTGCAGTGCTTCTGTC 0.473 12 24 --- --- --- --- BAIAP2L2 80115 broad.mit.edu 37 22 38482353 38482394 + In_Frame_Del DEL TGCGGGAGCGGGACTGGCCATCCCAGTACTCCGAGGGTGCTA TGCGGGAGCGGGACTGGCCATCCCAGTACTCCGAGGGTGCTA - rs113792005 by1000genomes TCGA-J4-A67N-01A-11D-A30E-08 TCGA-J4-A67N-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f07d2982-6313-4e21-a0a1-cf713daff114 f73b4226-3788-4704-acae-67420da417dd g.chr22:38482353_38482394delTGCGGGAGCGGGACTGGCCATCCCAGTACTCCGAGGGTGCTA ENST00000381669.3 - 12 1466_1507 c.1322_1363delTAGCACCCTCGGAGTACTGGGATGGCCAGTCCCGCTCCCGCA c.(1321-1365)acc>a p.IAPSEYWDGQSRSRT441del NM_025045.4 NP_079321.3 Q6UXY1 BI2L2_HUMAN BAI1-associated protein 2-like 2 441 filopodium assembly|signal transduction cytoskeletal adaptor activity|SH3 domain binding large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1) 8 Melanoma(58;0.045) CGGCTTGGGGTGCGGGAGCGGGACTGGCCATCCCAGTACTCCGAGGGTGCTATGGAGTTGCC 0.674 4 6 --- --- --- ---