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 COA1 55744 broad.mit.edu 37 7 43687182 43687182 + Missense_Mutation SNP C C T TCGA-G9-6378-01A-11D-1786-08 TCGA-G9-6378-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e0102ae-f348-417d-b442-b660a411fd1a 812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c g.chr7:43687182C>T ENST00000395879.1 - 2 1748 c.67G>A c.(67-69)Ggt>Agt p.G23S COA1_ENST00000395880.3_Missense_Mutation_p.G23S|COA1_ENST00000223336.6_Missense_Mutation_p.G23S|COA1_ENST00000310564.6_Missense_Mutation_p.G23S cytochrome c oxidase assembly factor 1 homolog (S. cerevisiae) p.G23S(1) TAGAACACACCGTGGAAAAGG 0.493000 5 94 0 0 0.021553 0 0 CNTNAP3B 728577 broad.mit.edu 37 9 43818062 43818062 + Missense_Mutation SNP T T A rs78142446 by1000genomes TCGA-G9-6378-01A-11D-1786-08 TCGA-G9-6378-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e0102ae-f348-417d-b442-b660a411fd1a 812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c g.chr9:43818062T>A ENST00000377564.3 + 7 1342 c.949T>A c.(949-951)Tca>Aca p.S317T CNTNAP3B_ENST00000276974.6_Missense_Mutation_p.S317T NM_001201380.1 NP_001188309.1 Q96NU0 CNT3B_HUMAN contactin associated protein-like 3B 317 Laminin G-like 1. LS -> PT (in Ref. 1; BAB14861/BAB70782). cell adhesion|signal transduction integral to membrane receptor binding p.S317T(1) central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3) 10 GGGAATTCTGTCACCCGGAAG 0.338000 3 37 0 0 0.115264 0 0 ABCB6 10058 broad.mit.edu 37 2 220081146 220081146 + Missense_Mutation SNP A A G TCGA-G9-6378-01A-11D-1786-08 TCGA-G9-6378-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e0102ae-f348-417d-b442-b660a411fd1a 812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c g.chr2:220081146A>G ENST00000265316.3 - 4 1226 c.910T>C c.(910-912)Tgg>Cgg p.W304R ABCB6_ENST00000439002.2_Missense_Mutation_p.W258R NM_005689.2 NP_005680.1 Q9NP58 ABCB6_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 6 304 ABC transmembrane type-1. cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity p.W304R(2) breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 34 Renal(207;0.0474) Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GTAACAGTCCAGGCCAGAGAG 0.547000 16 46 0 0 0.038395 0 0 C1orf110 339512 broad.mit.edu 37 1 162824943 162824943 + Missense_Mutation SNP C C T TCGA-G9-6378-01A-11D-1786-08 TCGA-G9-6378-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e0102ae-f348-417d-b442-b660a411fd1a 812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c g.chr1:162824943C>T ENST00000367912.1 - 4 692 c.518G>A c.(517-519)gGc>gAc p.G173D C1orf110_ENST00000367911.2_Missense_Mutation_p.G169D|C1orf110_ENST00000524691.1_Intron|C1orf110_ENST00000367910.1_Missense_Mutation_p.G174D Q86UF4 CA110_HUMAN chromosome 1 open reading frame 110 174 p.G174D(1) endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2) 12 AACAGAGATGCCCTTGCTGGG 0.463000 59 306 0 0 0.139131 0 0 PRRG1 5638 broad.mit.edu 37 X 37285150 37285150 + Missense_Mutation SNP G G A TCGA-G9-6378-01A-11D-1786-08 TCGA-G9-6378-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e0102ae-f348-417d-b442-b660a411fd1a 812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c g.chrX:37285150G>A ENST00000542554.1 + 4 340 c.68G>A c.(67-69)gGg>gAg p.G23E PRRG1_ENST00000378628.4_Missense_Mutation_p.G23E|PRRG1_ENST00000543642.1_Missense_Mutation_p.G23E|PRRG1_ENST00000463135.1_Missense_Mutation_p.G23E|PRRG1_ENST00000449135.2_Missense_Mutation_p.G23E|TM4SF2_ENST00000465127.1_Missense_Mutation_p.G23E|PRRG1_ENST00000491253.1_Intron NM_001173489.1 NP_001166960.1 O14668 TMG1_HUMAN proline rich Gla (G-carboxyglutamic acid) 1 23 Gla. extracellular region|integral to plasma membrane calcium ion binding p.G23E(1) breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 15 AGAGCTAATGGGTTTTTTGAA 0.338000 4 32 0 0 0.009096 0 0 PCSK5 5125 broad.mit.edu 37 9 78790168 78790168 + Missense_Mutation SNP G G A TCGA-G9-6378-01A-11D-1786-08 TCGA-G9-6378-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e0102ae-f348-417d-b442-b660a411fd1a 812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c g.chr9:78790168G>A ENST00000376767.3 + 14 2535 c.2023G>A c.(2023-2025)Gaa>Aaa p.E675K PCSK5_ENST00000545128.1_Intron|PCSK5_ENST00000376752.4_Intron Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 0 CRM (Cys-rich motif). anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 gaatggaatggaatggaatgg 0.388000 3 16 0 0 0.009096 0 0 ANKFN1 162282 broad.mit.edu 37 17 54555011 54555011 + Missense_Mutation SNP T T C TCGA-G9-6378-01A-11D-1786-08 TCGA-G9-6378-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e0102ae-f348-417d-b442-b660a411fd1a 812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c g.chr17:54555011T>C ENST00000566473.2 + 15 1945 c.1945T>C c.(1945-1947)Tct>Cct p.S649P ANKFN1_ENST00000318698.2_Missense_Mutation_p.S649P Q8N957 ANKF1_HUMAN ankyrin-repeat and fibronectin type III domain containing 1 649 NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1) 53 CAATAATATTTCTAGGTAAGT 0.418000 3 104 0 0 0.009096 0 0 LRRC57 255252 broad.mit.edu 37 15 42839684 42839684 + Silent SNP C C A TCGA-G9-6378-01A-11D-1786-08 TCGA-G9-6378-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e0102ae-f348-417d-b442-b660a411fd1a 812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c g.chr15:42839684C>A ENST00000323443.2 - 3 634 c.267G>T c.(265-267)acG>acT p.T89T LRRC57_ENST00000563454.1_Silent_p.T89T|LRRC57_ENST00000397130.3_Silent_p.T89T Q8N9N7 LRC57_HUMAN leucine rich repeat containing 57 89 p.T89T(1) breast(1)|kidney(1)|lung(5)|prostate(1) 8 all_cancers(109;1.99e-12)|all_epithelial(112;5.11e-11)|Lung NSC(122;4.53e-07)|all_lung(180;1.64e-06)|Melanoma(134;0.0262) GBM - Glioblastoma multiforme(94;6.87e-07) TTAGGCTTAGCGTCTCTAGTT 0.438000 14 95 0.000219431 0.000242529 0.119110 1 0 ZFYVE26 23503 broad.mit.edu 37 14 68220896 68220896 + Silent SNP C C A TCGA-G9-6378-01A-11D-1786-08 TCGA-G9-6378-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e0102ae-f348-417d-b442-b660a411fd1a 812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c g.chr14:68220896C>A ENST00000347230.4 - 38 7158 c.7020G>T c.(7018-7020)gtG>gtT p.V2340V ZFYVE26_ENST00000557306.1_Silent_p.V186V NM_015346.3 NP_056161.2 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 2340 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding p.V2340V(1) NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 94 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) AGAACCTGGTCACTTCCATCT 0.522000 26 187 2.79863e-10 3.39065e-10 0.099896 1 0 GRM7 2917 broad.mit.edu 37 3 7721859 7721859 + Missense_Mutation SNP C C T TCGA-G9-6378-01A-11D-1786-08 TCGA-G9-6378-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e0102ae-f348-417d-b442-b660a411fd1a 812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c g.chr3:7721859C>T ENST00000486284.1 + 9 2849 c.2575C>T c.(2575-2577)Cgg>Tgg p.R859W GRM7_ENST00000389336.4_Missense_Mutation_p.R859W|GRM7_ENST00000402647.2_Missense_Mutation_p.R859W|GRM7_ENST00000357716.4_Missense_Mutation_p.R859W|GRM7_ENST00000403881.1_Missense_Mutation_p.R859W NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 859 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding p.R859W(1) breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) TGTCCAGAAACGGAAGCGAAG 0.512000 4 89 0 0 0.014758 0 0 PRSS48 345062 broad.mit.edu 37 4 152201037 152201037 + Missense_Mutation SNP G G A TCGA-G9-6378-01A-11D-1786-08 TCGA-G9-6378-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e0102ae-f348-417d-b442-b660a411fd1a 812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c g.chr4:152201037G>A ENST00000455694.2 + 2 144 c.142G>A c.(142-144)Gac>Aac p.D48N PRSS48_ENST00000441586.2_Intron|SH3D19_ENST00000604030.1_Intron NM_183375.2 NP_899231.2 Q7RTY5 PRS48_HUMAN protease, serine, 48 48 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity p.D60N(1)|p.D48N(1) kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1) 8 CCTACACTTTGACCACAACTT 0.542000 22 153 0 0 0.062417 0 0 MORF4L2 9643 broad.mit.edu 37 X 102931652 102931652 + Missense_Mutation SNP T T C TCGA-G9-6378-01A-11D-1786-08 TCGA-G9-6378-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e0102ae-f348-417d-b442-b660a411fd1a 812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c g.chrX:102931652T>C ENST00000423833.2 - 3 1529 c.304A>G c.(304-306)Agg>Ggg p.R102G MORF4L2_ENST00000492116.1_5'UTR|MORF4L2_ENST00000360458.1_Missense_Mutation_p.R102G|MORF4L2_ENST00000433176.2_Missense_Mutation_p.R102G|MORF4L2_ENST00000441076.2_Missense_Mutation_p.R102G|MORF4L2_ENST00000451301.1_Missense_Mutation_p.R102G|MORF4L2_ENST00000372620.1_5'UTR|MORF4L2_ENST00000422154.2_Missense_Mutation_p.R102G Q15014 MO4L2_HUMAN mortality factor 4 like 2 102 chromatin modification|DNA repair|regulation of cell growth|transcription, DNA-dependent nucleolus protein binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7) 13 GCCCGGGCCCTTTTCTTCCGA 0.498000 3 99 0 0 0.115264 0 0 OBSCN 84033 broad.mit.edu 37 1 228509861 228509861 + Missense_Mutation SNP C C T TCGA-G9-6378-01A-11D-1786-08 TCGA-G9-6378-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e0102ae-f348-417d-b442-b660a411fd1a 812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c g.chr1:228509861C>T ENST00000570156.2 + 66 18264 c.18190C>T c.(18190-18192)Cct>Tct p.P6064S OBSCN_ENST00000366709.4_Missense_Mutation_p.P2226S|OBSCN_ENST00000366707.4_Missense_Mutation_p.P2741S|OBSCN_ENST00000422127.1_Missense_Mutation_p.P5107S|OBSCN_ENST00000284548.11_Missense_Mutation_p.P5107S NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 5107 Ig-like 52. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding p.P5689S(1) NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CAAAGAGACTCCTGCCCCTGT 0.597000 4 37 0 0 0.009096 0 0 NBEA 26960 broad.mit.edu 37 13 35733542 35733542 + Silent SNP G G A TCGA-G9-6378-01A-11D-1786-08 TCGA-G9-6378-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e0102ae-f348-417d-b442-b660a411fd1a 812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c g.chr13:35733542G>A ENST00000540320.1 + 22 3768 c.3234G>A c.(3232-3234)ccG>ccA p.P1078P NBEA_ENST00000400445.3_Silent_p.P1078P|NBEA_ENST00000379939.2_Silent_p.P1078P|NBEA_ENST00000310336.4_Silent_p.P1078P Q8NFP9 NBEA_HUMAN neurobeachin 1078 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) ATTTATCACCGGAGACTTTAG 0.403000 3 63 0 0 0.009096 0 0 ABCA13 154664 broad.mit.edu 37 7 48443343 48443343 + Silent SNP C C A TCGA-G9-6378-01A-11D-1786-08 TCGA-G9-6378-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e0102ae-f348-417d-b442-b660a411fd1a 812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c g.chr7:48443343C>A ENST00000435803.1 + 39 11961 c.11937C>A c.(11935-11937)ggC>ggA p.G3979G NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 3979 ABC transporter 1. transport integral to membrane ATP binding|ATPase activity p.G3979G(2)|p.G3924G(1) breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 TGTCTGGAGGCCTGAAGAGGA 0.527000 10 42 1.58986e-06 1.85484e-06 0.069234 1 0 OR6K6 128371 broad.mit.edu 37 1 158725008 158725008 + Missense_Mutation SNP C C A TCGA-G9-6378-01A-11D-1786-08 TCGA-G9-6378-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e0102ae-f348-417d-b442-b660a411fd1a 812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c g.chr1:158725008C>A ENST00000368144.2 + 1 499 c.403C>A c.(403-405)Ctt>Att p.L135I NM_001005184.1 NP_001005184.1 Q8NGW6 OR6K6_HUMAN olfactory receptor, family 6, subfamily K, member 6 135 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_hematologic(112;0.0378) TTTCCACTCACTTGGTATCAC 0.493000 4 85 3.41278e-10 4.0567e-10 0.033300 1 0 CHERP 10523 broad.mit.edu 37 19 16640580 16640580 + Silent SNP T T C TCGA-G9-6378-01A-11D-1786-08 TCGA-G9-6378-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e0102ae-f348-417d-b442-b660a411fd1a 812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c g.chr19:16640580T>C ENST00000546361.2 - 8 1159 c.1008A>G c.(1006-1008)caA>caG p.Q336Q CHERP_ENST00000198939.6_Silent_p.Q347Q|CTD-3222D19.2_ENST00000409035.1_Intron NM_006387.5 NP_006378.3 Q8IWX8 CHERP_HUMAN calcium homeostasis endoplasmic reticulum protein 336 Gln-rich. cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing endoplasmic reticulum|perinuclear region of cytoplasm RNA binding p.Q336Q(2) endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3) 24 gctgctgctgttgctgctgct 0.667000 3 50 0 0 0.115264 0 0 KRTAP9-3 83900 broad.mit.edu 37 17 39388891 39388891 + Silent SNP C C T TCGA-G9-6378-01A-11D-1786-08 TCGA-G9-6378-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e0102ae-f348-417d-b442-b660a411fd1a 812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c g.chr17:39388891C>T ENST00000411528.2 + 1 177 c.138C>T c.(136-138)tgC>tgT p.C46C NM_031962.2 NP_114168.1 Q9BYQ3 KRA93_HUMAN keratin associated protein 9-3 46 16 X 5 AA repeats of C-C-[RQVSHE]-[SPTN]- [TASPI]. keratin filament protein binding p.C46C(1) breast(1)|endometrium(3)|lung(2)|ovary(1)|prostate(1) 8 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) GCCAGCCTTGCTGCCACCCAA 0.622000 14 93 0 0 0.105934 0 0 AP3B2 8120 broad.mit.edu 37 15 83349301 83349301 + Missense_Mutation SNP C C G TCGA-G9-6378-01A-11D-1786-08 TCGA-G9-6378-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e0102ae-f348-417d-b442-b660a411fd1a 812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c g.chr15:83349301C>G ENST00000261722.3 - 8 1185 c.978G>C c.(976-978)caG>caC p.Q326H AP3B2_ENST00000535348.1_Missense_Mutation_p.Q294H|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Missense_Mutation_p.Q326H NM_004644.3 NP_004635.2 Q13367 AP3B2_HUMAN adaptor-related protein complex 3, beta 2 subunit 326 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat binding|protein transporter activity p.Q326H(2) breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(143;0.229) GGAAGTAGAGCTGCGCCACCG 0.706000 3 15 0 0 0.115264 0 0 CYP1A1 1543 broad.mit.edu 37 15 75013056 75013056 + Missense_Mutation SNP G G A TCGA-G9-6378-01A-11D-1786-08 TCGA-G9-6378-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e0102ae-f348-417d-b442-b660a411fd1a 812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c g.chr15:75013056G>A ENST00000379727.3 - 7 1511 c.1313C>T c.(1312-1314)gCt>gTt p.A438V CYP1A1_ENST00000395049.4_Missense_Mutation_p.A409V|CYP1A1_ENST00000395048.2_Missense_Mutation_p.A438V|CYP1A1_ENST00000567032.1_Missense_Mutation_p.A438V P04798 CP1A1_HUMAN cytochrome P450, family 1, subfamily A, polypeptide 1 438 cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity p.A438V(1) autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730) CTTGTCGATAGCACCATCAGG 0.522000 Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia 36 157 0 0 0.098360 0 0 FAM69B 138311 broad.mit.edu 37 9 139617909 139617909 + Missense_Mutation SNP C C T TCGA-G9-6378-01A-11D-1786-08 TCGA-G9-6378-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e0102ae-f348-417d-b442-b660a411fd1a 812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c g.chr9:139617909C>T ENST00000371691.1 + 3 1817 c.718C>T c.(718-720)Cgc>Tgc p.R240C FAM69B_ENST00000371692.4_Missense_Mutation_p.R327C|SNHG7_ENST00000414282.1_RNA Q5VUD6 FA69B_HUMAN family with sequence similarity 69, member B 327 endoplasmic reticulum membrane|integral to membrane p.R327C(1) NS(1)|endometrium(3)|large_intestine(2)|lung(1)|prostate(1) 8 all_cancers(76;0.0882)|all_epithelial(76;0.228) Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013) CACCGTGCGCCGCTTCCTGCA 0.667000 5 31 0 0 0.014758 0 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-G9-6378-01A-11D-1786-08 TCGA-G9-6378-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e0102ae-f348-417d-b442-b660a411fd1a 812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.532000 T MLL ALL 3 59 0 0 0.115264 0 0 SGK223 0 broad.mit.edu 37 8 8238940 8238940 + Silent SNP G G C TCGA-G9-6378-01A-11D-1786-08 TCGA-G9-6378-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e0102ae-f348-417d-b442-b660a411fd1a 812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c g.chr8:8238940G>C ENST00000520004.1 - 2 582 c.318C>G c.(316-318)gcC>gcG p.A106A SGK223_ENST00000330777.4_Silent_p.A106A Q86YV5 SG223_HUMAN 106 ATP binding|non-membrane spanning protein tyrosine kinase activity p.A106A(5) GCGAGACTTCGGCACTCAGGT 0.562000 14 75 0 0 0.119110 0 0 HDAC8 55869 broad.mit.edu 37 X 71708813 71708813 + Missense_Mutation SNP T T C TCGA-G9-6378-01A-11D-1786-08 TCGA-G9-6378-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e0102ae-f348-417d-b442-b660a411fd1a 812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c g.chrX:71708813T>C ENST00000439122.2 - 7 993 c.707A>G c.(706-708)cAa>cGa p.Q236R HDAC8_ENST00000373571.1_Missense_Mutation_p.Q236R|HDAC8_ENST00000373573.3_Missense_Mutation_p.Q236R|HDAC8_ENST00000373583.1_Intron|HDAC8_ENST00000373589.4_Missense_Mutation_p.Q145R|HDAC8_ENST00000373560.2_Intron|HDAC8_ENST00000429103.2_Missense_Mutation_p.Q41R|HDAC8_ENST00000373561.4_Missense_Mutation_p.Q236R|HDAC8_ENST00000373559.4_Missense_Mutation_p.Q119R NM_001166419.1 NP_001159891.1 Q9BY41 HDAC8_HUMAN histone deacetylase 8 236 Histone deacetylase. chromatin assembly or disassembly|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|histone deacetylase complex|nuclear chromosome histone deacetylase activity (H3-K16 specific)|metal ion binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1) 10 Renal(35;0.156) Vorinostat(DB02546) TTTTTCATCTTGTATGCCATC 0.438000 3 68 0 0 0.115264 0 0 FAM166A 401565 broad.mit.edu 37 9 140140297 140140297 + Missense_Mutation SNP C C T TCGA-G9-6378-01A-11D-1786-08 TCGA-G9-6378-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e0102ae-f348-417d-b442-b660a411fd1a 812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c g.chr9:140140297C>T ENST00000344774.4 - 2 119 c.65G>A c.(64-66)gGc>gAc p.G22D FAM166A_ENST00000388932.2_Missense_Mutation_p.G22D NM_001001710.1 NP_001001710.1 Q6J272 F166A_HUMAN family with sequence similarity 166, member A 22 p.G22D(1) kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2) 15 CGGAAAGAAGCCGGCATAGCT 0.632000 3 43 0 0 0.115264 0 0 KLC2 64837 broad.mit.edu 37 11 66026227 66026227 + Silent SNP G G T TCGA-G9-6378-01A-11D-1786-08 TCGA-G9-6378-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e0102ae-f348-417d-b442-b660a411fd1a 812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c g.chr11:66026227G>T ENST00000417856.1 + 2 405 c.162G>T c.(160-162)tcG>tcT p.S54S KLC2_ENST00000421552.1_Silent_p.S54S|KLC2_ENST00000394078.1_Silent_p.S54S|KLC2_ENST00000394066.2_Silent_p.S54S|KLC2_ENST00000394067.2_Silent_p.S54S|KLC2_ENST00000316924.5_Silent_p.S54S NM_001134775.1 NP_001128247.1 Q9H0B6 KLC2_HUMAN kinesin light chain 2 54 blood coagulation cytosol|kinesin complex|microtubule microtubule motor activity|protein binding p.S54S(1) breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 24 AGCCTGGCTCGCAGGAGCGCT 0.667000 OREG0021097 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 61 0.00198382 0.00211831 0.029380 1 0 GPR115 221393 broad.mit.edu 37 6 47682279 47682279 + Missense_Mutation SNP C C T rs146828294 by1000genomes TCGA-G9-6378-01A-11D-1786-08 TCGA-G9-6378-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e0102ae-f348-417d-b442-b660a411fd1a 812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c g.chr6:47682279C>T ENST00000283303.2 + 6 1556 c.1298C>T c.(1297-1299)aCg>aTg p.T433M GPR115_ENST00000371220.1_Missense_Mutation_p.T490M|GPR115_ENST00000327753.3_Missense_Mutation_p.T433M NM_153838.3 NP_722580.3 Q8IZF3 GP115_HUMAN G protein-coupled receptor 115 433 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 52 GTGGTTGTGACGGAGATATCA 0.478000 6 186 0 0 0.038147 0 0 SPRR2F 0 broad.mit.edu 37 1 153085079 153085079 + Missense_Mutation SNP G G A TCGA-G9-6378-01A-11D-1786-08 TCGA-G9-6378-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e0102ae-f348-417d-b442-b660a411fd1a 812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c g.chr1:153085079G>A ENST00000468739.1 - 2 191 c.131C>T c.(130-132)tCc>tTc p.S44F SPRR2B_ENST00000368752.4_Intron NM_001014450.1 NP_001014450.1 Q96RM1 SPR2F_HUMAN small proline-rich protein 2F 44 3 X 9 AA tandem repeats of [PS]-K-C-P- [EQ]-[PS]-C-P-P. keratinization cornified envelope|cytoplasm p.S44F(1) large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1) 4 Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) AGGTGGGCAGGACTGTGGACA 0.617000 54 313 0 0 0.139131 0 0 IFNA13 3447 broad.mit.edu 37 9 21367472 21367472 + Missense_Mutation SNP T T C TCGA-G9-6378-01A-11D-1786-08 TCGA-G9-6378-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e0102ae-f348-417d-b442-b660a411fd1a 812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c g.chr9:21367472T>C ENST00000449498.1 - 1 603 c.538A>G c.(538-540)Aca>Gca p.T180A NM_006900.3 NP_008831.3 P01562 IFNA1_HUMAN interferon, alpha 13 179 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding p.T180A(1)|p.T179A(1) breast(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1) 9 Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173) TGCAAGTTTGTTGATAAAGAG 0.408000 30 155 0 0 0.117977 0 0 RASAL2 9462 broad.mit.edu 37 1 178269157 178269157 + Missense_Mutation SNP A A G TCGA-G9-6378-01A-11D-1786-08 TCGA-G9-6378-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e0102ae-f348-417d-b442-b660a411fd1a 812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c g.chr1:178269157A>G ENST00000448150.3 + 3 1125 c.307A>G c.(307-309)Aca>Gca p.T103A RASAL2_ENST00000465723.1_3'UTR|RASAL2_ENST00000367649.3_Missense_Mutation_p.T121A NM_170692.2 NP_733793.2 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 0 PH. negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity p.T121A(1)|p.T103A(1) biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 GGAGCAGCAGACAGATTCCAC 0.473000 OREG0014010 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 66 0 0 0.080935 0 0 GLDN 342035 broad.mit.edu 37 15 51676022 51676022 + Silent SNP G G A TCGA-G9-6378-01A-11D-1786-08 TCGA-G9-6378-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e0102ae-f348-417d-b442-b660a411fd1a 812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c g.chr15:51676022G>A ENST00000335449.6 + 4 530 c.474G>A c.(472-474)ttG>ttA p.L158L GLDN_ENST00000396399.2_Silent_p.L34L NM_181789.2 NP_861454.2 Q6ZMI3 GLDN_HUMAN gliomedin 158 Collagen-like 1. cell differentiation|nervous system development collagen|integral to membrane|plasma membrane p.L158L(1) central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942) ACAACGGATTGGATGGACAGC 0.433000 9 44 0 0 0.080935 0 0 GPR98 84059 broad.mit.edu 37 5 90106488 90106488 + Silent SNP C C T TCGA-G9-6378-01A-11D-1786-08 TCGA-G9-6378-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e0102ae-f348-417d-b442-b660a411fd1a 812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c g.chr5:90106488C>T ENST00000405460.2 + 74 15507 c.15411C>T c.(15409-15411)ttC>ttT p.F5137F GPR98_ENST00000425867.2_Silent_p.F798F NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 5137 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity p.F5137F(1) NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) ATATTTCCTTCCCCGAGACAA 0.443000 48 300 0 0 0.139131 0 0 DMXL2 23312 broad.mit.edu 37 15 51795002 51795002 + Splice_Site SNP C C T TCGA-G9-6378-01A-11D-1786-08 TCGA-G9-6378-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e0102ae-f348-417d-b442-b660a411fd1a 812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c g.chr15:51795002C>T ENST00000251076.5 - 17 3280 c.e17+1 DMXL2_ENST00000543779.2_Splice_Site|DMXL2_ENST00000449909.3_Intron NM_001174116.1|NM_015263.3 NP_001167587.1|NP_056078.2 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 cell junction|synaptic vesicle membrane Rab GTPase binding p.?(1) breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) AGTGACCTTACCTGCTGAAGG 0.393000 12 74 0 0 0.105934 0 0 NRP2 8828 broad.mit.edu 37 2 206562286 206562286 + Missense_Mutation SNP G G A TCGA-G9-6378-01A-11D-1786-08 TCGA-G9-6378-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e0102ae-f348-417d-b442-b660a411fd1a 812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c g.chr2:206562286G>A ENST00000360409.3 + 2 883 c.92G>A c.(91-93)cGt>cAt p.R31H NRP2_ENST00000357118.4_Missense_Mutation_p.R31H|NRP2_ENST00000355117.4_Missense_Mutation_p.R31H|NRP2_ENST00000540178.1_Missense_Mutation_p.R31H|NRP2_ENST00000540841.1_Missense_Mutation_p.R31H|NRP2_ENST00000272849.3_Missense_Mutation_p.R31H|NRP2_ENST00000412873.2_Missense_Mutation_p.R31H|NRP2_ENST00000417189.1_Missense_Mutation_p.R31H|NRP2_ENST00000357785.5_Missense_Mutation_p.R31H NM_003872.2|NM_201266.1|NM_201279.1 NP_003863.2|NP_957718.1|NP_958436.1 O60462 NRP2_HUMAN neuropilin 2 31 CUB 1. angiogenesis|axon guidance|cell adhesion integral to membrane|membrane fraction|plasma membrane heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity p.R31H(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 52 TGCGGAGGTCGTTTGAATTCC 0.517000 24 462 0 0 0.116897 0 0 MID1IP1 58526 broad.mit.edu 37 X 38664272 38664272 + Missense_Mutation SNP G G A TCGA-G9-6378-01A-11D-1786-08 TCGA-G9-6378-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e0102ae-f348-417d-b442-b660a411fd1a 812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c g.chrX:38664272G>A ENST00000336949.6 + 2 1018 c.73G>A c.(73-75)Gtg>Atg p.V25M MID1IP1_ENST00000378474.3_Missense_Mutation_p.V25M|MID1IP1_ENST00000457894.1_Missense_Mutation_p.V25M NM_021242.4 NP_067065.1 Q9NPA3 M1IP1_HUMAN MID1 interacting protein 1 25 lipid biosynthetic process|negative regulation of microtubule depolymerization|positive regulation of fatty acid biosynthetic process|positive regulation of ligase activity|protein polymerization cytosol|microtubule|nucleus p.V25M(1) kidney(1)|large_intestine(3)|lung(2)|prostate(1) 7 CATTGGCGCCGTGAACAACAT 0.607000 3 29 0 0 0.115264 0 0 INHBA 3624 broad.mit.edu 37 7 41739857 41739857 + Missense_Mutation SNP G G A TCGA-G9-6378-01A-11D-1786-08 TCGA-G9-6378-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e0102ae-f348-417d-b442-b660a411fd1a 812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c g.chr7:41739857G>A ENST00000242208.4 - 2 362 c.116C>T c.(115-117)gCg>gTg p.A39V INHBA-AS1_ENST00000415848.2_RNA|AC005027.3_ENST00000416150.1_RNA|INHBA-AS1_ENST00000420821.1_RNA|INHBA-AS1_ENST00000422822.1_RNA|INHBA_ENST00000442711.1_Missense_Mutation_p.A39V NM_002192.2 NP_002183.1 P08476 INHBA_HUMAN inhibin, beta A 39 cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway activin A complex|inhibin A complex cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity p.A39V(1) biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 GGCGGCCAGCGCACAGGACGG 0.577000 TSP Lung(11;0.080) 57 374 0 0 0.139131 0 0 NCKAP5L 57701 broad.mit.edu 37 12 50186731 50186731 + Missense_Mutation SNP C C T TCGA-G9-6378-01A-11D-1786-08 TCGA-G9-6378-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e0102ae-f348-417d-b442-b660a411fd1a 812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c g.chr12:50186731C>T ENST00000335999.6 - 11 3580 c.3379G>A c.(3379-3381)Ggg>Agg p.G1127R NM_001037806.3 NP_001032895.2 Q9HCH0 NCK5L_HUMAN NCK-associated protein 5-like 1123 Pro-rich. p.G1127R(1)|p.G718R(1) central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2) 18 GGGAAGGTCCCAATGCCACTG 0.652000 6 19 0 0 0.038147 0 0 PPT2-EGFL8 0 broad.mit.edu 37 6 32122416 32122416 + Silent SNP G G A TCGA-G9-6378-01A-11D-1786-08 TCGA-G9-6378-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e0102ae-f348-417d-b442-b660a411fd1a 812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c g.chr6:32122416G>A ENST00000422437.1 + 2 236 c.45G>A c.(43-45)ctG>ctA p.L15L PPT2_ENST00000493548.1_3'UTR|PPT2_ENST00000395523.1_Silent_p.L15L|PPT2_ENST00000445576.2_Silent_p.L15L|PPT2_ENST00000361568.2_Silent_p.L21L|PPT2-EGFL8_ENST00000453656.2_3'UTR|PPT2_ENST00000375143.2_Silent_p.L15L|PPT2_ENST00000375137.2_Silent_p.L15L|PPT2_ENST00000437001.2_5'UTR|PPT2_ENST00000324816.6_Silent_p.L15L p.L21L(1) CGTGGGTCCTGCTTCTGTTGC 0.672000 32 152 0 0 0.144211 0 0 CCT6P3 0 broad.mit.edu 37 7 64498737 64498737 + RNA SNP C C A TCGA-G9-6378-01A-11D-1786-08 TCGA-G9-6378-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e0102ae-f348-417d-b442-b660a411fd1a 812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c g.chr7:64498737C>A ENST00000426828.1 + 0 0 NR_033416.1 gaggcggtggcggcggcggca 0.786000 4 23 3.59834e-05 4.04813e-05 0.021553 1 0 STK19 8859 broad.mit.edu 37 6 31940215 31940215 + Silent SNP C C T TCGA-G9-6378-01A-11D-1786-08 TCGA-G9-6378-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e0102ae-f348-417d-b442-b660a411fd1a 812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c g.chr6:31940215C>T ENST00000375331.2 + 2 523 c.357C>T c.(355-357)atC>atT p.I119I STK19_ENST00000463823.1_3'UTR|STK19_ENST00000375333.2_Silent_p.I119I NM_004197.1 NP_004188.1 P49842 STK19_HUMAN serine/threonine kinase 19 119 nucleus ATP binding|protein binding|protein serine/threonine kinase activity p.I119I(1) skin(5)|upper_aerodigestive_tract(2) 7 ATCACCTGATCCCGGAGACCT 0.597000 15 119 0 0 0.043863 0 0 ZFYVE26 23503 broad.mit.edu 37 14 68220894 68220894 + Missense_Mutation SNP G G T TCGA-G9-6378-01A-11D-1786-08 TCGA-G9-6378-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e0102ae-f348-417d-b442-b660a411fd1a 812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c g.chr14:68220894G>T ENST00000347230.4 - 38 7160 c.7022C>A c.(7021-7023)aCc>aAc p.T2341N ZFYVE26_ENST00000557306.1_Missense_Mutation_p.T187N NM_015346.3 NP_056161.2 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 2341 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding p.T2341N(1) NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 94 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) CAAGAACCTGGTCACTTCCAT 0.527000 27 188 1.77063e-15 2.18725e-15 0.108266 1 0 SIGLEC16 400709 broad.mit.edu 37 19 50473221 50473221 + RNA SNP T T C rs117072442 by1000genomes TCGA-G9-6378-01A-11D-1786-08 TCGA-G9-6378-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e0102ae-f348-417d-b442-b660a411fd1a 812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c g.chr19:50473221T>C ENST00000602139.1 + 0 222 sialic acid binding Ig-like lectin 16 (gene/pseudogene) p.W65R(3) endometrium(2)|kidney(2)|lung(6) 10 GTTCAAAGGATGGACCAGCCC 0.602000 5 86 0 0 0.029380 0 0 MAGEA12 4111 broad.mit.edu 37 X 151900633 151900633 + Silent SNP G G A TCGA-G9-6378-01A-11D-1786-08 TCGA-G9-6378-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e0102ae-f348-417d-b442-b660a411fd1a 812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c g.chrX:151900633G>A ENST00000393900.3 - 3 521 c.168C>T c.(166-168)gcC>gcT p.A56A MAGEA12_ENST00000357916.4_Silent_p.A56A|MAGEA12_ENST00000393869.3_Silent_p.A56A|CSAG4_ENST00000361201.4_RNA NM_001166386.1 NP_001159858.1 P43365 MAGAC_HUMAN melanoma antigen family A, 12 56 p.A56A(1) breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) TTGGTGACTCGGCAGCAGGCA 0.612000 24 59 0 0 0.076483 0 0 RELL2 285613 broad.mit.edu 37 5 141017909 141017909 + Silent SNP C C G TCGA-G9-6378-01A-11D-1786-08 TCGA-G9-6378-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e0102ae-f348-417d-b442-b660a411fd1a 812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c g.chr5:141017909C>G ENST00000297164.3 + 1 1317 c.117C>G c.(115-117)ctC>ctG p.L39L RELL2_ENST00000518025.1_3'UTR|RELL2_ENST00000518856.1_Intron|RELL2_ENST00000521367.1_Intron|RELL2_ENST00000444782.1_Silent_p.L39L NM_173828.4 NP_776189.3 Q8NC24 RELL2_HUMAN RELT-like 2 39 integral to membrane|plasma membrane p.L39L(1) large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 9 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCACGTGCTCAAGAAGAAGG 0.597000 6 158 0 0 0.021553 0 0 TRHDE 29953 broad.mit.edu 37 12 72680634 72680634 + Missense_Mutation SNP C C T TCGA-G9-6378-01A-11D-1786-08 TCGA-G9-6378-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e0102ae-f348-417d-b442-b660a411fd1a 812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c g.chr12:72680634C>T ENST00000261180.4 + 2 1049 c.953C>T c.(952-954)aCg>aTg p.T318M NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 318 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding p.T318M(3) NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 GGATGGGTTACGGATCACTTT 0.413000 6 157 0 0 0.021553 0 0 ABCA4 24 broad.mit.edu 37 1 94506837 94506837 + Silent SNP G G A TCGA-G9-6378-01A-11D-1786-08 TCGA-G9-6378-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e0102ae-f348-417d-b442-b660a411fd1a 812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c g.chr1:94506837G>A ENST00000370225.3 - 23 3536 c.3450C>T c.(3448-3450)tgC>tgT p.C1150C NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 1150 ABC transporter 1. phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances p.C1150C(1) NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) CTGTGCCAAAGCAGTTCTTCA 0.562000 19 75 0 0 0.049695 0 0 PTPN14 5784 broad.mit.edu 37 1 214557049 214557051 + In_Frame_Del DEL CCT CCT - TCGA-G9-6378-01A-11D-1786-08 TCGA-G9-6378-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e0102ae-f348-417d-b442-b660a411fd1a 812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c g.chr1:214557049_214557051delCCT ENST00000366956.5 - 13 2341_2343 c.2147_2149delAGG c.(2146-2151)gct>g p.EA716del PTPN14_ENST00000543945.1_3'UTR NM_005401.4 NP_005392.2 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 14 716 Poly-Glu. lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding p.E716delE(1) NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) GATTCTGGAGCCTCCTCCTCCTC 0.626 7 97 --- --- --- --- LINC00969 0 broad.mit.edu 37 3 195412724 195412725 + RNA DEL TT TT - TCGA-G9-6378-01A-11D-1786-08 TCGA-G9-6378-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e0102ae-f348-417d-b442-b660a411fd1a 812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c g.chr3:195412724_195412725delTT ENST00000445430.1 + 0 3921_3922 TTGACAAAACTTTGAACGAGGC 0.401 6 10 --- --- --- --- SOWAHB 345079 broad.mit.edu 37 4 77818628 77818629 + In_Frame_Ins INS - - CGC TCGA-G9-6378-01A-11D-1786-08 TCGA-G9-6378-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e0102ae-f348-417d-b442-b660a411fd1a 812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c g.chr4:77818628_77818629insCGC ENST00000334306.2 - 1 373_374 c.374_375insGCG c.(373-375)cga>cGCGga p.125_126insG NM_001029870.1 NP_001025041.1 A6NEL2 ANR56_HUMAN sosondowah ankyrin repeat domain family member B 125 Poly-Arg. GCTCCTTCTCGCGCCGCCGCCG 0.792 3 3 --- --- --- --- MALAT1 0 broad.mit.edu 37 11 65273415 65273415 + RNA DEL T T - TCGA-G9-6378-01A-11D-1786-08 TCGA-G9-6378-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e0102ae-f348-417d-b442-b660a411fd1a 812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c g.chr11:65273415delT ENST00000534336.1 + 0 8183 NR_002819.2 CTGCTAAGACTTTTTCAGGTG 0.448 18 127 --- --- --- --- ITPR2 3709 broad.mit.edu 37 12 26864155 26864156 + Frame_Shift_Ins INS - - T TCGA-G9-6378-01A-11D-1786-08 TCGA-G9-6378-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e0102ae-f348-417d-b442-b660a411fd1a 812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c g.chr12:26864155_26864156insT ENST00000381340.3 - 9 1317_1318 c.901_902insA c.(901-903)cttfs p.L301fs NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 301 MIR 4. activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) TCTGAACAAGCTGTTCCACTGT 0.416 7 74 --- --- --- --- RP11-597A11.1 0 broad.mit.edu 37 14 20138377 20138377 + RNA DEL A A - TCGA-G9-6378-01A-11D-1786-08 TCGA-G9-6378-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e0102ae-f348-417d-b442-b660a411fd1a 812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c g.chr14:20138377delA ENST00000548261.1 + 0 391 CAaaagaaagaaagaaagaaa 0.383 4 3 --- --- --- --- TXNDC11 51061 broad.mit.edu 37 16 11782231 11782236 + In_Frame_Del DEL GGCAGA GGCAGA - TCGA-G9-6378-01A-11D-1786-08 TCGA-G9-6378-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e0102ae-f348-417d-b442-b660a411fd1a 812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c g.chr16:11782231_11782236delGGCAGA ENST00000356957.3 - 10 2154_2159 c.2047_2052delTCTGCC c.(2047-2052)del p.SA683del TXNDC11_ENST00000283033.5_In_Frame_Del_p.SA656del|TXNDC11_ENST00000570917.1_5'UTR Q6PKC3 TXD11_HUMAN thioredoxin domain containing 11 683 Thioredoxin 2. cell redox homeostasis endoplasmic reticulum membrane|integral to membrane endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 ACGGGAACTGGGCAGAGCCACTTCCA 0.398 13 91 --- --- --- ---