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 RP11-1407O15.2 0 broad.mit.edu 37 17 36357265 36357265 + Missense_Mutation SNP C C T TCGA-D3-A3CF-06A-11D-A196-08 TCGA-D3-A3CF-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4de17e47-b1e8-458e-a8f1-be1e5d095f17 5f9d120e-e36f-45c2-8cbf-d11e68d80b2a g.chr17:36357265C>T ENST00000312412.4 - 9 987 c.988G>A c.(988-990)Gca>Aca p.A330T TBC1D3_ENST00000537432.1_5'UTR|RP11-1407O15.2_ENST00000544906.1_Missense_Mutation_p.A175T kidney(1)|lung(3) 4 ATAAGCAATGCAGTCTCCCTA 0.378000 6 24 0 0 8.12818e-05 0 0 ZNF99 7652 broad.mit.edu 37 19 22940600 22940600 + Missense_Mutation SNP G G T TCGA-D3-A3CF-06A-11D-A196-08 TCGA-D3-A3CF-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4de17e47-b1e8-458e-a8f1-be1e5d095f17 5f9d120e-e36f-45c2-8cbf-d11e68d80b2a g.chr19:22940600G>T ENST00000397104.3 - 5 1837 c.1838C>A c.(1837-1839)cCc>cAc p.P613H ZNF99_ENST00000596209.1_Missense_Mutation_p.P704H zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) ACATTTGTAGGGTTTCTTTCC 0.373000 4 23 1.024e-07 1.10892e-06 0.000602214 1 0 MUC16 94025 broad.mit.edu 37 19 9080450 9080450 + Splice_Site SNP C C T TCGA-D3-A3CF-06A-11D-A196-08 TCGA-D3-A3CF-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4de17e47-b1e8-458e-a8f1-be1e5d095f17 5f9d120e-e36f-45c2-8cbf-d11e68d80b2a g.chr19:9080450C>T ENST00000397910.4 - 2 9784 c.e2+1 NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TCTATATTTACCTGCTGGACT 0.448000 8 47 0 0 0.000442599 0 0 GPR20 2843 broad.mit.edu 37 8 142367126 142367126 + Missense_Mutation SNP C C T rs150478338 TCGA-D3-A3CF-06A-11D-A196-08 TCGA-D3-A3CF-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4de17e47-b1e8-458e-a8f1-be1e5d095f17 5f9d120e-e36f-45c2-8cbf-d11e68d80b2a g.chr8:142367126C>T ENST00000377741.3 - 2 988 c.898G>A c.(898-900)Gtc>Atc p.V300I NM_005293.2 NP_005284.2 Q99678 GPR20_HUMAN G protein-coupled receptor 20 300 integral to plasma membrane G-protein coupled receptor activity p.V300I(1) NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 15 all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0415) CCACTGGTGACGAAGCAGTAG 0.647000 7 50 0 0 0.000157383 0 0 PLOD1 5351 broad.mit.edu 37 1 12025608 12025608 + Silent SNP C C T TCGA-D3-A3CF-06A-11D-A196-08 TCGA-D3-A3CF-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4de17e47-b1e8-458e-a8f1-be1e5d095f17 5f9d120e-e36f-45c2-8cbf-d11e68d80b2a g.chr1:12025608C>T ENST00000196061.4 + 14 1569 c.1542C>T c.(1540-1542)acC>acT p.T514T PLOD1_ENST00000376369.3_Silent_p.T561T NM_000302.3 NP_000293.2 Q02809 PLOD1_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 514 epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 29 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126) ACCGCACCACCCACCTGCACA 0.632000 14 67 0 0 0.000308642 0 0 ASH1L 55870 broad.mit.edu 37 1 155450458 155450458 + Missense_Mutation SNP C C G TCGA-D3-A3CF-06A-11D-A196-08 TCGA-D3-A3CF-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4de17e47-b1e8-458e-a8f1-be1e5d095f17 5f9d120e-e36f-45c2-8cbf-d11e68d80b2a g.chr1:155450458C>G ENST00000368346.3 - 3 2842 c.2203G>C c.(2203-2205)Gaa>Caa p.E735Q ASH1L_ENST00000392403.3_Missense_Mutation_p.E735Q Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 735 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) CTTTCTAATTCTAGCCCTTTT 0.393000 7 36 0 0 8.12818e-05 0 0 ANKMY2 57037 broad.mit.edu 37 7 16650312 16650312 + Missense_Mutation SNP A A C TCGA-D3-A3CF-06A-11D-A196-08 TCGA-D3-A3CF-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4de17e47-b1e8-458e-a8f1-be1e5d095f17 5f9d120e-e36f-45c2-8cbf-d11e68d80b2a g.chr7:16650312A>C ENST00000306999.2 - 6 851 c.608T>G c.(607-609)tTg>tGg p.L203W NM_020319.2 NP_064715.1 Q8IV38 ANKY2_HUMAN ankyrin repeat and MYND domain containing 2 203 cilium zinc ion binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1) 23 Lung NSC(10;0.103)|all_lung(11;0.204) UCEC - Uterine corpus endometrioid carcinoma (126;0.195) CTCACAAATCAAATCCATCAC 0.373000 11 46 0 0 0.000151284 0 0 TOM1L1 10040 broad.mit.edu 37 17 52981124 52981124 + Silent SNP C C T TCGA-D3-A3CF-06A-11D-A196-08 TCGA-D3-A3CF-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4de17e47-b1e8-458e-a8f1-be1e5d095f17 5f9d120e-e36f-45c2-8cbf-d11e68d80b2a g.chr17:52981124C>T ENST00000575882.1 + 2 467 c.114C>T c.(112-114)atC>atT p.I38I TOM1L1_ENST00000572405.1_Silent_p.I3I|TOM1L1_ENST00000540336.1_5'UTR|TOM1L1_ENST00000536554.1_Intron|TOM1L1_ENST00000570371.1_Silent_p.I38I|TOM1L1_ENST00000348161.4_Intron|TOM1L1_ENST00000572158.1_Silent_p.I38I|TOM1L1_ENST00000445275.2_Silent_p.I38I|TOM1L1_ENST00000575333.1_Silent_p.I38I NM_005486.2 NP_005477.2 O75674 TM1L1_HUMAN target of myb1 (chicken)-like 1 38 VHS. intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway cytosol|endosome membrane|Golgi stack|lysosome SH3 domain binding|ubiquitin binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1) 15 TCATGCACATCTGTGACATAA 0.428000 9 61 0 0 0.000442599 0 0 ASPM 259266 broad.mit.edu 37 1 197091378 197091378 + Missense_Mutation SNP G G C TCGA-D3-A3CF-06A-11D-A196-08 TCGA-D3-A3CF-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4de17e47-b1e8-458e-a8f1-be1e5d095f17 5f9d120e-e36f-45c2-8cbf-d11e68d80b2a g.chr1:197091378G>C ENST00000367409.4 - 15 3908 c.3652C>G c.(3652-3654)Cac>Gac p.H1218D ASPM_ENST00000367408.1_Missense_Mutation_p.H468D|ASPM_ENST00000294732.7_Missense_Mutation_p.H1218D NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 1218 CH 2. mitosis cytoplasm|nucleus calmodulin binding breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 CTAACCAAGTGAAAATTTTTC 0.348000 3 25 0 0 6.4e-05 0 0 MAPKAPK2 9261 broad.mit.edu 37 1 206905225 206905225 + Silent SNP G G T TCGA-D3-A3CF-06A-11D-A196-08 TCGA-D3-A3CF-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4de17e47-b1e8-458e-a8f1-be1e5d095f17 5f9d120e-e36f-45c2-8cbf-d11e68d80b2a g.chr1:206905225G>T ENST00000367103.3 + 9 1213 c.1020G>T c.(1018-1020)cgG>cgT p.R340R MAPKAPK2_ENST00000294981.4_Silent_p.R340R|MAPKAPK2_ENST00000479009.1_3'UTR NM_004759.4|NM_032960.3 NP_004750.1|NP_116584.2 P49137 MAPK2_HUMAN mitogen-activated protein kinase-activated protein kinase 2 340 activation of MAPK activity|hormone biosynthetic process|innate immune response|leukotriene biosynthetic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|prostanoid metabolic process|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 19 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.211) ACACCAGCCGGGTCCTGAAGG 0.622000 12 53 2.27111e-07 2.40089e-06 0.00010058 1 0 ZNF99 7652 broad.mit.edu 37 19 22941562 22941562 + Silent SNP G G A TCGA-D3-A3CF-06A-11D-A196-08 TCGA-D3-A3CF-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4de17e47-b1e8-458e-a8f1-be1e5d095f17 5f9d120e-e36f-45c2-8cbf-d11e68d80b2a g.chr19:22941562G>A ENST00000397104.3 - 5 875 c.876C>T c.(874-876)gcC>gcT p.A292A ZNF99_ENST00000596209.1_Silent_p.A383A zinc finger protein 99 p.A292A(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) GTTTTCTAAGGGCTGACAAAT 0.368000 6 51 0 0 8.12818e-05 0 0 ID2 3398 broad.mit.edu 37 2 8822514 8822514 + Missense_Mutation SNP G G C TCGA-D3-A3CF-06A-11D-A196-08 TCGA-D3-A3CF-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4de17e47-b1e8-458e-a8f1-be1e5d095f17 5f9d120e-e36f-45c2-8cbf-d11e68d80b2a g.chr2:8822514G>C ENST00000234091.4 + 3 1079 c.219G>C c.(217-219)ttG>ttC p.L73F ID2_ENST00000331129.3_Missense_Mutation_p.L73F|ID2_ENST00000396290.1_Missense_Mutation_p.L73F Q02363 ID2_HUMAN inhibitor of DNA binding 2, dominant negative helix-loop-helix protein 73 Helix-loop-helix motif. cellular senescence|embryonic digestive tract morphogenesis|endodermal digestive tract morphogenesis|epithelial cell differentiation involved in mammary gland alveolus development|mammary gland epithelial cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of neuron differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|neuron fate commitment|positive regulation of blood pressure|positive regulation of cell cycle arrest|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent protein complex protein binding breast(1)|large_intestine(1)|lung(1)|prostate(1) 4 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) ACTACATCTTGGACCTGCAGA 0.587000 22 138 0 0 0.000229342 0 0 IFIT2 3433 broad.mit.edu 37 10 91066107 91066107 + Missense_Mutation SNP A A G TCGA-D3-A3CF-06A-11D-A196-08 TCGA-D3-A3CF-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4de17e47-b1e8-458e-a8f1-be1e5d095f17 5f9d120e-e36f-45c2-8cbf-d11e68d80b2a g.chr10:91066107A>G ENST00000371826.3 + 2 563 c.394A>G c.(394-396)Aga>Gga p.R132G LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_Intron NM_001547.4 NP_001538.4 P09913 IFIT2_HUMAN interferon-induced protein with tetratricopeptide repeats 2 132 negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway protein binding endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1) 12 Colorectal(252;0.0161) CAGTCCCTATAGAATTGAGAG 0.458000 8 33 0 0 0.000442599 0 0 GLI3 2737 broad.mit.edu 37 7 42005321 42005321 + Missense_Mutation SNP G G T TCGA-D3-A3CF-06A-11D-A196-08 TCGA-D3-A3CF-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4de17e47-b1e8-458e-a8f1-be1e5d095f17 5f9d120e-e36f-45c2-8cbf-d11e68d80b2a g.chr7:42005321G>T ENST00000395925.3 - 15 3434 c.3350C>A c.(3349-3351)cCg>cAg p.P1117Q GLI3_ENST00000479210.1_5'UTR NM_000168.5 NP_000159.3 P10071 GLI3_HUMAN GLI family zinc finger 3 1117 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.P1117Q(1) NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 112 GCTGTCGTCCGGGAGGGCGCT 0.637000 Pallister-Hall syndrome;Greig Cephalopolysyndactyly 4 74 0.000602214 0.00581268 0.000602214 1 0 PLEKHA5 54477 broad.mit.edu 37 12 19522626 19522626 + Splice_Site SNP G G C TCGA-D3-A3CF-06A-11D-A196-08 TCGA-D3-A3CF-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4de17e47-b1e8-458e-a8f1-be1e5d095f17 5f9d120e-e36f-45c2-8cbf-d11e68d80b2a g.chr12:19522626G>C ENST00000538714.1 + 27 3434 c.e27-1 PLEKHA5_ENST00000359180.3_Splice_Site|PLEKHA5_ENST00000424268.1_Splice_Site|PLEKHA5_ENST00000429027.2_Splice_Site|PLEKHA5_ENST00000299275.6_Splice_Site|PLEKHA5_ENST00000317589.4_Splice_Site|PLEKHA5_ENST00000539256.1_Splice_Site|PLEKHA5_ENST00000355397.3_Splice_Site|PLEKHA5_ENST00000543806.1_Splice_Site NM_001143821.2 NP_001137293.2 Q9HAU0 PKHA5_HUMAN pleckstrin homology domain containing, family A member 5 1-phosphatidylinositol binding|protein binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804) GTGTGTTTTAGTGAAAAGTCT 0.408000 7 19 0 0 8.12818e-05 0 0 BRD3 8019 broad.mit.edu 37 9 136918456 136918456 + Silent SNP C C T TCGA-D3-A3CF-06A-11D-A196-08 TCGA-D3-A3CF-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4de17e47-b1e8-458e-a8f1-be1e5d095f17 5f9d120e-e36f-45c2-8cbf-d11e68d80b2a g.chr9:136918456C>T ENST00000303407.7 - 2 329 c.144G>A c.(142-144)aaG>aaA p.K48K BRD3_ENST00000357885.2_Silent_p.K48K|BRD3_ENST00000371834.2_Silent_p.K48K NM_007371.3 NP_031397.1 Q15059 BRD3_HUMAN bromodomain containing 3 48 nucleus protein binding BRD3/C15orf55(3) kidney(1)|skin(1)|stomach(4) 6 OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07) TCCAGAGCGTCTTCACCACCA 0.637000 T C15orf55 lethal midline carcinoma of young people 8 53 0 0 0.000274275 0 0 SEC22B 9554 broad.mit.edu 37 1 145116027 145116027 + RNA SNP T T C rs7550440 TCGA-D3-A3CF-06A-11D-A196-08 TCGA-D3-A3CF-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4de17e47-b1e8-458e-a8f1-be1e5d095f17 5f9d120e-e36f-45c2-8cbf-d11e68d80b2a g.chr1:145116027T>C ENST00000453618.1 + 0 1113 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding AAAAGAGATGTCCTGAAAATG 0.423000 4 12 0 0 0.00024832 0 0 CYBA 1535 broad.mit.edu 37 16 88713222 88713222 + Silent SNP C C A TCGA-D3-A3CF-06A-11D-A196-08 TCGA-D3-A3CF-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4de17e47-b1e8-458e-a8f1-be1e5d095f17 5f9d120e-e36f-45c2-8cbf-d11e68d80b2a g.chr16:88713222C>A ENST00000569359.1 - 4 244 c.228G>T c.(226-228)gtG>gtT p.V76V CYBA_ENST00000567174.1_Silent_p.V76V|CYBA_ENST00000261623.3_Silent_p.V76V P13498 CY24A_HUMAN cytochrome b-245, alpha polypeptide 76 cytochrome complex assembly|electron transport chain|hydrogen peroxide biosynthetic process|inflammatory response|innate immune response|respiratory burst|smooth muscle hypertrophy|superoxide anion generation|transport NADPH oxidase complex|stored secretory granule electron carrier activity|heme binding|protein heterodimerization activity|SH3 domain binding endometrium(1)|liver(1) 2 BRCA - Breast invasive adenocarcinoma(80;0.0478) ACAGCTTCACCACGGCGGTCA 0.652000 10 26 6.40141e-05 0.000645961 0.000978159 1 0 KRTAP4-2 85291 broad.mit.edu 37 17 39334125 39334125 + Missense_Mutation SNP G G C TCGA-D3-A3CF-06A-11D-A196-08 TCGA-D3-A3CF-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4de17e47-b1e8-458e-a8f1-be1e5d095f17 5f9d120e-e36f-45c2-8cbf-d11e68d80b2a g.chr17:39334125G>C ENST00000377726.2 - 1 335 c.292C>G c.(292-294)Ccc>Gcc p.P98A NM_033062.3 NP_149051.1 Q9BYR5 KRA42_HUMAN keratin associated protein 4-2 98 20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ]. keratin filament kidney(2)|lung(4)|upper_aerodigestive_tract(1) 7 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) CAGCAGGTGGGCTGGCAGTAC 0.667000 6 64 0 0 3.59834e-05 0 0 ILF3 3609 broad.mit.edu 37 19 10790580 10790580 + Missense_Mutation SNP T T A TCGA-D3-A3CF-06A-11D-A196-08 TCGA-D3-A3CF-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4de17e47-b1e8-458e-a8f1-be1e5d095f17 5f9d120e-e36f-45c2-8cbf-d11e68d80b2a g.chr19:10790580T>A ENST00000449870.1 + 8 1153 c.836T>A c.(835-837)cTg>cAg p.L279Q ILF3_ENST00000407004.3_Missense_Mutation_p.L279Q|ILF3_ENST00000590261.1_Missense_Mutation_p.L279Q|ILF3_ENST00000250241.8_Missense_Mutation_p.L279Q|ILF3_ENST00000589998.1_Missense_Mutation_p.L279Q|ILF3_ENST00000420083.1_Missense_Mutation_p.L279Q|ILF3_ENST00000588657.1_Missense_Mutation_p.L279Q|ILF3_ENST00000592763.1_Missense_Mutation_p.L279Q|ILF3_ENST00000318511.3_Missense_Mutation_p.L279Q NM_017620.2 NP_060090.2 Q12906 ILF3_HUMAN interleukin enhancer binding factor 3, 90kDa 279 DZF. M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleolus|ribonucleoprotein complex DNA binding|double-stranded RNA binding|protein binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 Epithelial(33;6.86e-06)|all cancers(31;1.65e-05) CTGGAGTGCCTGGCGTCGGGC 0.632000 5 23 0 0 3.59834e-05 0 0 PCDHA5 56143 broad.mit.edu 37 5 140203711 140203711 + Missense_Mutation SNP A A G TCGA-D3-A3CF-06A-11D-A196-08 TCGA-D3-A3CF-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4de17e47-b1e8-458e-a8f1-be1e5d095f17 5f9d120e-e36f-45c2-8cbf-d11e68d80b2a g.chr5:140203711A>G ENST00000378126.3 + 1 2351 c.2351A>G c.(2350-2352)aAc>aGc p.N784S PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Splice_Site_p.N784_splice|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Splice_Site_p.N784_splice NM_031501.1 NP_113689.1 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCTACAGACAACGTGAGTTTT 0.428000 7 85 0 0 8.12818e-05 0 0 HAO2 51179 broad.mit.edu 37 1 119925606 119925606 + Missense_Mutation SNP A A T TCGA-D3-A3CF-06A-11D-A196-08 TCGA-D3-A3CF-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4de17e47-b1e8-458e-a8f1-be1e5d095f17 5f9d120e-e36f-45c2-8cbf-d11e68d80b2a g.chr1:119925606A>T ENST00000361035.4 + 4 522 c.239A>T c.(238-240)gAg>gTg p.E80V HAO2_ENST00000325945.3_Missense_Mutation_p.E67V NM_001005783.1 NP_001005783.1 Q9NYQ3 HAOX2_HUMAN hydroxyacid oxidase 2 (long chain) 67 FMN hydroxy acid dehydrogenase. F -> Y (in Ref. 2; AAF14000). fatty acid alpha-oxidation peroxisome (S)-2-hydroxy-acid oxidase activity breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 30 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856) ATCCAAGGGGAGGAGATCAGT 0.547000 5 18 0 0 0.000602214 0 0 GABRD 2563 broad.mit.edu 37 1 1961584 1961584 + Missense_Mutation SNP C C T TCGA-D3-A3CF-06A-11D-A196-08 TCGA-D3-A3CF-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4de17e47-b1e8-458e-a8f1-be1e5d095f17 5f9d120e-e36f-45c2-8cbf-d11e68d80b2a g.chr1:1961584C>T ENST00000378585.4 + 9 1305 c.1222C>T c.(1222-1224)Cgc>Tgc p.R408C NM_000815.4 NP_000806.2 O14764 GBRD_HUMAN gamma-aminobutyric acid (GABA) A receptor, delta 408 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2) 20 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2) GGGGGCAGCCCGCTCAGGAGG 0.701000 6 45 0 0 3.59834e-05 0 0 FRG1B 284802 broad.mit.edu 37 20 29628233 29628233 + Missense_Mutation SNP A A G TCGA-D3-A3CF-06A-11D-A196-08 TCGA-D3-A3CF-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4de17e47-b1e8-458e-a8f1-be1e5d095f17 5f9d120e-e36f-45c2-8cbf-d11e68d80b2a g.chr20:29628233A>G ENST00000278882.3 + 6 615 c.235A>G c.(235-237)Atg>Gtg p.M79V FRG1B_ENST00000439954.2_Missense_Mutation_p.M84V|FRG1B_ENST00000358464.4_Missense_Mutation_p.M79V endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TTAGGGGAAAATGGCTTTGTT 0.363000 4 42 0 0 3.59834e-05 0 0 PXDN 7837 broad.mit.edu 37 2 1652989 1652989 + Missense_Mutation SNP G G A TCGA-D3-A3CF-06A-11D-A196-08 TCGA-D3-A3CF-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4de17e47-b1e8-458e-a8f1-be1e5d095f17 5f9d120e-e36f-45c2-8cbf-d11e68d80b2a g.chr2:1652989G>A ENST00000252804.4 - 17 2613 c.2563C>T c.(2563-2565)Ccc>Tcc p.P855S NM_012293.1 NP_036425.1 Q92626 PXDN_HUMAN peroxidasin homolog (Drosophila) 855 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 112 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) AAGCAGGGGGGGTCGTTGCTG 0.677000 4 102 0 0 0.00024832 0 0 ID2 3398 broad.mit.edu 37 2 8822644 8822644 + Splice_Site SNP G G A TCGA-D3-A3CF-06A-11D-A196-08 TCGA-D3-A3CF-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4de17e47-b1e8-458e-a8f1-be1e5d095f17 5f9d120e-e36f-45c2-8cbf-d11e68d80b2a g.chr2:8822644G>A ENST00000234091.4 + 3 1208 c.e3+1 ID2_ENST00000331129.3_Splice_Site|ID2_ENST00000396290.1_Splice_Site Q02363 ID2_HUMAN inhibitor of DNA binding 2, dominant negative helix-loop-helix protein cellular senescence|embryonic digestive tract morphogenesis|endodermal digestive tract morphogenesis|epithelial cell differentiation involved in mammary gland alveolus development|mammary gland epithelial cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of neuron differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|neuron fate commitment|positive regulation of blood pressure|positive regulation of cell cycle arrest|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent protein complex protein binding breast(1)|large_intestine(1)|lung(1)|prostate(1) 4 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) GTCCTTGCAGGTAAGACCTGC 0.632000 20 83 0 0 0.000132079 0 0 LOC101927079 101927079 broad.mit.edu 37 15 22332492 22332492 + RNA SNP A A C TCGA-D3-A3CF-06A-11D-A196-08 TCGA-D3-A3CF-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4de17e47-b1e8-458e-a8f1-be1e5d095f17 5f9d120e-e36f-45c2-8cbf-d11e68d80b2a g.chr15:22332492A>C ENST00000558896.1 + 0 299 TATTTCTCTTATTACTATTTT 0.383000 5 189 0 0 0.000602214 0 0 FAM151A 338094 broad.mit.edu 37 1 55076151 55076151 + Missense_Mutation SNP G G C TCGA-D3-A3CF-06A-11D-A196-08 TCGA-D3-A3CF-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4de17e47-b1e8-458e-a8f1-be1e5d095f17 5f9d120e-e36f-45c2-8cbf-d11e68d80b2a g.chr1:55076151G>C ENST00000302250.2 - 7 1178 c.1018C>G c.(1018-1020)Ctg>Gtg p.L340V FAM151A_ENST00000371304.2_Intron|ACOT11_ENST00000371316.3_Intron NM_176782.2 NP_788954.2 Q8WW52 F151A_HUMAN family with sequence similarity 151, member A 340 integral to membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 12 TCCACATTCAGACCGTCATCC 0.592000 4 48 0 0 3.59834e-05 0 0 NBEA 26960 broad.mit.edu 37 13 35619181 35619181 + Missense_Mutation SNP C C G TCGA-D3-A3CF-06A-11D-A196-08 TCGA-D3-A3CF-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4de17e47-b1e8-458e-a8f1-be1e5d095f17 5f9d120e-e36f-45c2-8cbf-d11e68d80b2a g.chr13:35619181C>G ENST00000540320.1 + 3 1158 c.624C>G c.(622-624)atC>atG p.I208M NBEA_ENST00000400445.3_Missense_Mutation_p.I208M|NBEA_ENST00000379939.2_Missense_Mutation_p.I208M|NBEA_ENST00000310336.4_Missense_Mutation_p.I208M Q8NFP9 NBEA_HUMAN neurobeachin 208 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) AAAGTGGAATCTGGGTAAGCT 0.398000 4 5 0 0 0.000602214 0 0 LAMB2 3913 broad.mit.edu 37 3 49165975 49165975 + Missense_Mutation SNP G G A TCGA-D3-A3CF-06A-11D-A196-08 TCGA-D3-A3CF-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4de17e47-b1e8-458e-a8f1-be1e5d095f17 5f9d120e-e36f-45c2-8cbf-d11e68d80b2a g.chr3:49165975G>A ENST00000418109.1 - 16 2098 c.1934C>T c.(1933-1935)cCa>cTa p.P645L LAMB2_ENST00000305544.4_Missense_Mutation_p.P645L NM_002292.3 NP_002283.3 P55268 LAMB2_HUMAN laminin, beta 2 (laminin S) 645 Laminin IV type B. cell adhesion laminin-11 complex|laminin-3 complex structural molecule activity NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CACAGGCCCTGGACGCTGCAC 0.597000 9 35 0 0 0.000442599 0 0 MEGF10 84466 broad.mit.edu 37 5 126738307 126738307 + Missense_Mutation SNP C C A TCGA-D3-A3CF-06A-11D-A196-08 TCGA-D3-A3CF-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4de17e47-b1e8-458e-a8f1-be1e5d095f17 5f9d120e-e36f-45c2-8cbf-d11e68d80b2a g.chr5:126738307C>A ENST00000274473.6 + 9 1117 c.850C>A c.(850-852)Cat>Aat p.H284N MEGF10_ENST00000503335.2_Missense_Mutation_p.H284N|MEGF10_ENST00000418761.2_Missense_Mutation_p.H284N|MEGF10_ENST00000508365.1_Missense_Mutation_p.H284N NM_032446.2 NP_115822.1 Q96KG7 MEG10_HUMAN multiple EGF-like-domains 10 284 EGF-like 5.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern. cell adhesion|phagocytosis basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) ATGCCAGTGCCATAATGGAGG 0.507000 23 74 5.45024e-15 6.20489e-14 0.00047179 1 0 DNAH5 1767 broad.mit.edu 37 5 13737373 13737373 + Missense_Mutation SNP C C T TCGA-D3-A3CF-06A-11D-A196-08 TCGA-D3-A3CF-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4de17e47-b1e8-458e-a8f1-be1e5d095f17 5f9d120e-e36f-45c2-8cbf-d11e68d80b2a g.chr5:13737373C>T ENST00000265104.4 - 66 11547 c.11443G>A c.(11443-11445)Gaa>Aaa p.E3815K NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3815 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.E3815K(1) NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GGTCTGTATTCCTCCCGGGCT 0.428000 Kartagener syndrome 15 106 0 0 0.000422831 0 0 CTNNA3 29119 broad.mit.edu 37 10 68940148 68940148 + Missense_Mutation SNP C C T TCGA-D3-A3CF-06A-11D-A196-08 TCGA-D3-A3CF-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4de17e47-b1e8-458e-a8f1-be1e5d095f17 5f9d120e-e36f-45c2-8cbf-d11e68d80b2a g.chr10:68940148C>T ENST00000433211.1 - 7 1148 c.974G>A c.(973-975)cGa>cAa p.R325Q CTNNA3_ENST00000373744.4_Missense_Mutation_p.R325Q|CTNNA3_ENST00000545309.1_Missense_Mutation_p.R325Q|CTNNA3_ENST00000494580.1_5'UTR NM_013266.2 NP_037398.2 Q9UI47 CTNA3_HUMAN catenin (cadherin-associated protein), alpha 3 325 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 95 AATCCGCTCTCGGTGTAAGTC 0.512000 10 30 0 0 0.000673444 0 0 EGF 1950 broad.mit.edu 37 4 110882136 110882136 + Nonsense_Mutation SNP C C T TCGA-D3-A3CF-06A-11D-A196-08 TCGA-D3-A3CF-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4de17e47-b1e8-458e-a8f1-be1e5d095f17 5f9d120e-e36f-45c2-8cbf-d11e68d80b2a g.chr4:110882136C>T ENST00000265171.5 + 7 1625 c.1180C>T c.(1180-1182)Cga>Tga p.R394* EGF_ENST00000509793.1_Nonsense_Mutation_p.R352*|EGF_ENST00000503392.1_Nonsense_Mutation_p.R394* NM_001178130.1|NM_001963.4 NP_001171601.1|NP_001954.2 P01133 EGF_HUMAN epidermal growth factor 394 EGF-like 2; calcium-binding (Potential). angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface integral to membrane|plasma membrane|platelet alpha granule lumen calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Hepatocellular(203;0.0893) OV - Ovarian serous cystadenocarcinoma(123;9.87e-06) Sulindac(DB00605) TGATGGGAAACGATGTCATCG 0.398000 9 34 0 0 0.000274275 0 0 CT47B1 643311 broad.mit.edu 37 X 120007818 120007818 + Missense_Mutation SNP C C T TCGA-D3-A3CF-06A-11D-A196-08 TCGA-D3-A3CF-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4de17e47-b1e8-458e-a8f1-be1e5d095f17 5f9d120e-e36f-45c2-8cbf-d11e68d80b2a g.chrX:120007818C>T ENST00000371311.3 - 2 1086 c.832G>A c.(832-834)Gag>Aag p.E278K NM_001145718.1 NP_001139190.1 P0C2W7 CT47B_HUMAN cancer/testis antigen family 47, member B1 278 breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1) 22 TTCTCTTCCTCGCCTGCAGCA 0.468000 89 337 0 0 0.000781405 0 0 MSANTD4 84437 broad.mit.edu 37 11 105880673 105880673 + Silent SNP T T C TCGA-D3-A3CF-06A-11D-A196-08 TCGA-D3-A3CF-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4de17e47-b1e8-458e-a8f1-be1e5d095f17 5f9d120e-e36f-45c2-8cbf-d11e68d80b2a g.chr11:105880673T>C ENST00000301919.4 - 3 2042 c.627A>G c.(625-627)aaA>aaG p.K209K NM_032424.1 NP_115800.1 Q8NCY6 K1826_HUMAN Myb/SANT-like DNA-binding domain containing 4 with coiled-coils 209 nucleus CTAGTTTCTGTTTCTCAATAT 0.438000 13 44 0 0 0.000219431 0 0 GFPT2 9945 broad.mit.edu 37 5 179731790 179731790 + Missense_Mutation SNP C C A TCGA-D3-A3CF-06A-11D-A196-08 TCGA-D3-A3CF-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4de17e47-b1e8-458e-a8f1-be1e5d095f17 5f9d120e-e36f-45c2-8cbf-d11e68d80b2a g.chr5:179731790C>A ENST00000253778.8 - 17 1993 c.1824G>T c.(1822-1824)caG>caT p.Q608H NM_005110.2 NP_005101.1 O94808 GFPT2_HUMAN glutamine-fructose-6-phosphate transaminase 2 608 SIS 2. dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 34 all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) Medulloblastoma(196;0.0392)|all_neural(177;0.0529) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) L-Glutamine(DB00130) CCGTGACTTGCTGCAGGGCGT 0.592000 12 186 0.00010058 0.000992388 0.00010058 1 0 LOC101927079 101927079 broad.mit.edu 37 15 22332432 22332432 + RNA SNP C C T TCGA-D3-A3CF-06A-11D-A196-08 TCGA-D3-A3CF-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4de17e47-b1e8-458e-a8f1-be1e5d095f17 5f9d120e-e36f-45c2-8cbf-d11e68d80b2a g.chr15:22332432C>T ENST00000558896.1 + 0 239 AAGATTCTAACGTGACAGAAC 0.343000 7 105 0 0 8.12818e-05 0 0 NSD1 64324 broad.mit.edu 37 5 176721888 176721888 + Missense_Mutation SNP G G A TCGA-D3-A3CF-06A-11D-A196-08 TCGA-D3-A3CF-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4de17e47-b1e8-458e-a8f1-be1e5d095f17 5f9d120e-e36f-45c2-8cbf-d11e68d80b2a g.chr5:176721888G>A ENST00000439151.2 + 23 7564 c.7519G>A c.(7519-7521)Ggc>Agc p.G2507S NSD1_ENST00000354179.4_Missense_Mutation_p.G2238S|NSD1_ENST00000347982.4_Missense_Mutation_p.G2238S|NSD1_ENST00000361032.4_Missense_Mutation_p.G2404S NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 2507 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) TGTTGAGAAAGGCTGTGTGTC 0.537000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 16 108 0 0 0.000958276 0 0 LGI4 163175 broad.mit.edu 37 19 35616221 35616221 + Missense_Mutation SNP G G A TCGA-D3-A3CF-06A-11D-A196-08 TCGA-D3-A3CF-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4de17e47-b1e8-458e-a8f1-be1e5d095f17 5f9d120e-e36f-45c2-8cbf-d11e68d80b2a g.chr19:35616221G>A ENST00000310123.3 - 9 2009 c.1490C>T c.(1489-1491)cCg>cTg p.P497L LGI4_ENST00000392225.3_3'UTR|LGI4_ENST00000493050.1_5'UTR NM_139284.2 NP_644813.1 Q8N135 LGI4_HUMAN leucine-rich repeat LGI family, member 4 497 extracellular region endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849) CACCAGGGCCGGAGGCCCCAG 0.642000 4 30 0 0 0.000602214 0 0 DNAH5 1767 broad.mit.edu 37 5 13737425 13737425 + Missense_Mutation SNP C C A TCGA-D3-A3CF-06A-11D-A196-08 TCGA-D3-A3CF-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4de17e47-b1e8-458e-a8f1-be1e5d095f17 5f9d120e-e36f-45c2-8cbf-d11e68d80b2a g.chr5:13737425C>A ENST00000265104.4 - 66 11495 c.11391G>T c.(11389-11391)caG>caT p.Q3797H NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3797 AAA 5 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TTTCTAGCTTCTGTGTCACCT 0.463000 Kartagener syndrome 15 108 2.32078e-09 2.57607e-08 0.000308642 1 0 CXorf67 340602 broad.mit.edu 37 X 51150037 51150037 + Missense_Mutation SNP G G A TCGA-D3-A3CF-06A-11D-A196-08 TCGA-D3-A3CF-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4de17e47-b1e8-458e-a8f1-be1e5d095f17 5f9d120e-e36f-45c2-8cbf-d11e68d80b2a g.chrX:51150037G>A ENST00000342995.2 + 1 271 c.169G>A c.(169-171)Ggc>Agc p.G57S chromosome X open reading frame 67 breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1) 21 TCCCTCGGGCGGCGCCGCCCT 0.652000 3 10 0 0 0.00024832 0 0 CLOCK 9575 broad.mit.edu 37 4 56336954 56336954 + Frame_Shift_Del DEL A A - TCGA-D3-A3CF-06A-11D-A196-08 TCGA-D3-A3CF-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4de17e47-b1e8-458e-a8f1-be1e5d095f17 5f9d120e-e36f-45c2-8cbf-d11e68d80b2a g.chr4:56336954delA ENST00000309964.4 - 7 618 c.368delT c.(367-369)tafs p.L123fs CLOCK_ENST00000381322.1_Frame_Shift_Del_p.L123fs|CLOCK_ENST00000513440.1_Frame_Shift_Del_p.L123fs NM_004898.3 NP_004889.1 O15516 CLOCK_HUMAN clock circadian regulator 123 PAS 1. circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter cytoplasm|transcription factor complex DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity p.L123fs*1(2) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107) CATGATTGCTAAAAAAAAACC 0.289 8 87 --- --- --- --- NUDT11 55190 broad.mit.edu 37 X 51239296 51239309 + Translation_Start_Site DEL TCCTCGAGGCAGCC TCCTCGAGGCAGCC - rs78182391 TCGA-D3-A3CF-06A-11D-A196-08 TCGA-D3-A3CF-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4de17e47-b1e8-458e-a8f1-be1e5d095f17 5f9d120e-e36f-45c2-8cbf-d11e68d80b2a g.chrX:51239296_51239309delTCCTCGAGGCAGCC ENST00000375992.3 - 0 139_152 NM_018159.3 NP_060629.2 Q96G61 NUD11_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 11 cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding p.?(5) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2) 9 Ovarian(276;0.236) TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC 0.692 HNSCC(48;0.14) 4 9 --- --- --- ---