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 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 0.562 19 75 --- --- --- --- SPRR2F 6705 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 0.617 54 313 --- --- --- --- 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 0.493 4 85 --- --- --- --- 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 ENST00000367912.2 - 4 692 c.518G>A c.(517-519)gGc>gAc p.G173D C1orf110_ENST00000367910.1_Missense_Mutation_p.G174D|C1orf110_ENST00000524691.1_Intron|C1orf110_ENST00000367911.2_Missense_Mutation_p.G169D Q86UF4 CA110_HUMAN chromosome 1 open reading frame 110 p.G174D(1) endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2) 12 AACAGAGATGCCCTTGCTGGG 0.463 59 306 --- --- --- --- 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_ENST00000367649.3_Missense_Mutation_p.T121A|RASAL2_ENST00000465723.1_3'UTR 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 0.473 OREG0014010 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 66 --- --- --- --- 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_ENST00000422127.1_Missense_Mutation_p.P5107S|OBSCN_ENST00000284548.11_Missense_Mutation_p.P5107S|OBSCN_ENST00000366707.4_Missense_Mutation_p.P2741S 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 0.597 4 37 --- --- --- --- SPAST 6683 broad.mit.edu 37 2 32368485 32368485 + Splice_Site 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.chr2:32368485G>T ENST00000315285.3 + 14 1741 c.e14+1 SPAST_ENST00000345662.1_Splice_Site NM_014946.3 NP_055761.2 Q9UBP0 SPAST_HUMAN spastin cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity p.?(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) AACTTGCTAGGTGAGTAATTT 0.254 3 42 --- --- --- --- 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_ENST00000412873.2_Missense_Mutation_p.R31H|NRP2_ENST00000417189.1_Missense_Mutation_p.R31H|NRP2_ENST00000540841.1_Missense_Mutation_p.R31H|NRP2_ENST00000357785.5_Missense_Mutation_p.R31H|NRP2_ENST00000272849.3_Missense_Mutation_p.R31H NM_003872.2|NM_201266.1|NM_201279.1 NP_003863.2|NP_957718|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 0.517 24 462 --- --- --- --- 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 0.547 16 46 --- --- --- --- 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 SH3D19_ENST00000604030.1_Intron|PRSS48_ENST00000441586.2_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 0.542 22 153 --- --- --- --- 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 0.443 48 300 --- --- --- --- 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_ENST00000518856.1_Intron|RELL2_ENST00000518025.1_3'UTR|RELL2_ENST00000444782.1_Silent_p.L39L|RELL2_ENST00000521367.1_Intron 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 0.597 6 158 --- --- --- --- 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 0.597 15 119 --- --- --- --- PPT2-EGFL8 100532746 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_ENST00000445576.2_Silent_p.L15L|PPT2_ENST00000493548.1_3'UTR|PPT2_ENST00000361568.2_Silent_p.L21L|PPT2_ENST00000324816.6_Silent_p.L15L|PPT2_ENST00000395523.1_Silent_p.L15L|PPT2-EGFL8_ENST00000453656.2_3'UTR|PPT2_ENST00000375137.2_Silent_p.L15L|PPT2_ENST00000437001.2_5'UTR|PPT2_ENST00000375143.2_Silent_p.L15L p.L21L(1) CGTGGGTCCTGCTTCTGTTGC 0.672 32 152 --- --- --- --- 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_ENST00000442711.1_Missense_Mutation_p.A39V|INHBA-AS1_ENST00000422822.1_RNA|INHBA-AS1_ENST00000420821.1_RNA|AC005027.3_ENST00000416150.1_RNA|INHBA-AS1_ENST00000415848.2_RNA 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 0.577 TSP Lung(11;0.080) 57 374 --- --- --- --- 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 0.527 10 42 --- --- --- --- 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 0.408 30 155 --- --- --- --- 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 0.667 5 31 --- --- --- --- 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 0.632 3 43 --- --- --- --- 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_ENST00000394067.2_Silent_p.S54S|KLC2_ENST00000394066.2_Silent_p.S54S|KLC2_ENST00000394078.1_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 0.667 OREG0021097 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 61 --- --- --- --- 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 0.652 6 19 --- --- --- --- 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 0.527 27 188 --- --- --- --- 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 0.522 26 187 --- --- --- --- 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 0.433 9 44 --- --- --- --- 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_ENST00000567032.1_Missense_Mutation_p.A438V|CYP1A1_ENST00000395048.2_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 0.522 Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia 36 157 --- --- --- --- ZNF629 23361 broad.mit.edu 37 16 30794665 30794665 + 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.chr16:30794665G>T ENST00000262525.4 - 3 1191 c.984C>A c.(982-984)atC>atA p.I328I NM_001080417.1 NP_001073886.1 Q9UEG4 ZN629_HUMAN zinc finger protein 629 328 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.I328I(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1) 22 Colorectal(24;0.198) CCGAGCTCTGGATGAAGCTCT 0.637 4 76 --- --- --- --- 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_ENST00000491253.1_Intron|PRRG1_ENST00000449135.2_Missense_Mutation_p.G23E|TM4SF2_ENST00000465127.1_Missense_Mutation_p.G23E|PRRG1_ENST00000463135.1_Missense_Mutation_p.G23E|PRRG1_ENST00000543642.1_Missense_Mutation_p.G23E|PRRG1_ENST00000378628.4_Missense_Mutation_p.G23E 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 0.338 4 32 --- --- --- --- MALAT1 378938 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)agcfs p.S301fs 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 --- --- --- ---