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 VWA5A 4013 broad.mit.edu 37 11 123989697 123989697 + Missense_Mutation SNP G G A TCGA-HT-7605-01A-11D-2086-08 TCGA-HT-7605-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19d69d6e-e741-4df9-ba72-c14e5111f81f b42925b4-0c56-428a-aca8-cbefe4d9dcaf g.chr11:123989697G>A ENST00000456829.2 + 7 912 c.661G>A c.(661-663)Gga>Aga p.G221R VWA5A_ENST00000360334.4_Missense_Mutation_p.G221R|VWA5A_ENST00000449321.1_Missense_Mutation_p.G221R|VWA5A_ENST00000392744.4_Missense_Mutation_p.G237R|VWA5A_ENST00000392748.1_Missense_Mutation_p.G221R|VWA5A_ENST00000361352.5_Missense_Mutation_p.G221R NM_001130142.1 NP_001123614.1 O00534 VMA5A_HUMAN von Willebrand factor A domain containing 5A 221 autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 CCTGGCTGCTGGACACAAGTT 0.522000 3 52 0 0 1 0 0 FAM209A 200232 broad.mit.edu 37 20 55101032 55101032 + Missense_Mutation SNP G G A TCGA-HT-7605-01A-11D-2086-08 TCGA-HT-7605-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19d69d6e-e741-4df9-ba72-c14e5111f81f b42925b4-0c56-428a-aca8-cbefe4d9dcaf g.chr20:55101032G>A ENST00000371328.3 + 2 745 c.422G>A c.(421-423)aGt>aAt p.S141N FAM209A_ENST00000481560.1_3'UTR NM_001012971.3 NP_001012989.2 family with sequence similarity 209, member A GCAACAGGTAGTGGCAGTAAC 0.448000 5 92 0 0 1 0 0 KCNU1 157855 broad.mit.edu 37 8 36642081 36642081 + Silent SNP T T C TCGA-HT-7605-01A-11D-2086-08 TCGA-HT-7605-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19d69d6e-e741-4df9-ba72-c14e5111f81f b42925b4-0c56-428a-aca8-cbefe4d9dcaf g.chr8:36642081T>C ENST00000399881.3 + 1 190 c.153T>C c.(151-153)tcT>tcC p.S51S NM_001031836.2 NP_001027006.2 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 51 voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1) 57 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) TCTGGAGATCTGTTAAAAAAT 0.438000 4 33 0 0 1 0 0 KIAA0922 23240 broad.mit.edu 37 4 154542876 154542876 + Missense_Mutation SNP T T A TCGA-HT-7605-01A-11D-2086-08 TCGA-HT-7605-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19d69d6e-e741-4df9-ba72-c14e5111f81f b42925b4-0c56-428a-aca8-cbefe4d9dcaf g.chr4:154542876T>A ENST00000409959.3 + 28 3783 c.3734T>A c.(3733-3735)tTt>tAt p.F1245Y KIAA0922_ENST00000440693.1_Missense_Mutation_p.F1161Y|KIAA0922_ENST00000409663.3_Missense_Mutation_p.F1244Y NM_001131007.1 NP_001124479.1 A2VDJ0 T131L_HUMAN KIAA0922 1244 integral to membrane breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 all_hematologic(180;0.093) Renal(120;0.118) TGCAGTGACTTTGAGAGGTCT 0.433000 8 54 0 0 1 0 0 RP11-1166P10.6 0 broad.mit.edu 37 16 32070612 32070612 + RNA SNP A A C TCGA-HT-7605-01A-11D-2086-08 TCGA-HT-7605-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19d69d6e-e741-4df9-ba72-c14e5111f81f b42925b4-0c56-428a-aca8-cbefe4d9dcaf g.chr16:32070612A>C ENST00000566806.1 - 0 499 GGTCTCCTGCAAGGCTTCTGG 0.552000 3 83 0 0 1 0 0 DCHS2 54798 broad.mit.edu 37 4 155163900 155163900 + Silent SNP T T C TCGA-HT-7605-01A-11D-2086-08 TCGA-HT-7605-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19d69d6e-e741-4df9-ba72-c14e5111f81f b42925b4-0c56-428a-aca8-cbefe4d9dcaf g.chr4:155163900T>C ENST00000357232.3 - 22 5600 c.5601A>G c.(5599-5601)aaA>aaG p.K1867K NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 1867 Cadherin 16. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) TGGGCATCCCTTTATCTGTGG 0.378000 3 64 0 0 1 0 0 POLL 27343 broad.mit.edu 37 10 103343337 103343337 + Silent SNP G G A rs148400497 byFrequency TCGA-HT-7605-01A-11D-2086-08 TCGA-HT-7605-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19d69d6e-e741-4df9-ba72-c14e5111f81f b42925b4-0c56-428a-aca8-cbefe4d9dcaf g.chr10:103343337G>A ENST00000370162.3 - 6 1487 c.993C>T c.(991-993)agC>agT p.S331S DPCD_ENST00000470165.1_Intron|POLL_ENST00000456836.2_Silent_p.S68S|POLL_ENST00000436284.2_3'UTR|POLL_ENST00000339310.3_Silent_p.S54S|POLL_ENST00000370158.3_Silent_p.S56S|POLL_ENST00000370169.1_Silent_p.S331S|POLL_ENST00000370172.1_Silent_p.S243S|POLL_ENST00000299206.4_Silent_p.S331S|DPCD_ENST00000416979.2_Intron NM_001174084.1|NM_001174085.1|NM_013274.3 NP_001167555.1|NP_001167556.1|NP_037406.1 Q9UGP5 DPOLL_HUMAN polymerase (DNA directed), lambda 331 DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes nucleus DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2) 19 Colorectal(252;0.234) Epithelial(162;1.55e-08)|all cancers(201;6.64e-07) AGACAGGCACGCTCTCACTGA 0.562000 DNA polymerases (catalytic subunits) 6 78 0 0 1 0 0 RIC3 79608 broad.mit.edu 37 11 8148216 8148216 + Missense_Mutation SNP C C A TCGA-HT-7605-01A-11D-2086-08 TCGA-HT-7605-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19d69d6e-e741-4df9-ba72-c14e5111f81f b42925b4-0c56-428a-aca8-cbefe4d9dcaf g.chr11:8148216C>A ENST00000396677.2 - 2 173 c.174G>T c.(172-174)gaG>gaT p.E58D RIC3_ENST00000425599.2_Intron|RIC3_ENST00000335425.7_Intron|RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000539720.1_Missense_Mutation_p.E171D|RIC3_ENST00000309737.6_Missense_Mutation_p.E220D|RIC3_ENST00000343202.4_Missense_Mutation_p.E219D Q7Z5B4 RIC3_HUMAN RIC3 acetylcholine receptor chaperone 220 endoplasmic reticulum membrane|Golgi membrane|integral to membrane breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1) 17 Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204) CTTCCCAGTCCTCCATGTAAG 0.403000 3 65 1 1 1 1 0 SPATA31A6 389730 broad.mit.edu 37 9 43627757 43627757 + Silent SNP A A G TCGA-HT-7605-01A-11D-2086-08 TCGA-HT-7605-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19d69d6e-e741-4df9-ba72-c14e5111f81f b42925b4-0c56-428a-aca8-cbefe4d9dcaf g.chr9:43627757A>G ENST00000332857.6 - 4 958 c.930T>C c.(928-930)tgT>tgC p.C310C NM_001145196.1 NP_001138668.1 SPATA31 subfamily A, member 6 CTTCCATCTGACAGGTCTCTG 0.532000 56 264 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7708392 7708392 + Splice_Site SNP G G A TCGA-HT-7605-01A-11D-2086-08 TCGA-HT-7605-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19d69d6e-e741-4df9-ba72-c14e5111f81f b42925b4-0c56-428a-aca8-cbefe4d9dcaf g.chr17:7708392G>A ENST00000572933.1 + 60 10760 c.9300_splice c.e60+1 p.R3100_splice DNAH2_ENST00000389173.2_Splice_Site_p.R3100_splice Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 3100 Stalk (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) AGGCCATGCGGGTACCAGGGG 0.582000 3 67 0 0 1 0 0 TANGO6 79613 broad.mit.edu 37 16 68900994 68900994 + Missense_Mutation SNP G G A TCGA-HT-7605-01A-11D-2086-08 TCGA-HT-7605-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19d69d6e-e741-4df9-ba72-c14e5111f81f b42925b4-0c56-428a-aca8-cbefe4d9dcaf g.chr16:68900994G>A ENST00000261778.1 + 4 877 c.865G>A c.(865-867)Gtg>Atg p.V289M NM_024562.1 NP_078838.1 transport and golgi organization 6 homolog (Drosophila) CTGCACAGATGTGAAGACACA 0.473000 38 78 0 0 1 0 0 ACSM2A 123876 broad.mit.edu 37 16 20471589 20471589 + Missense_Mutation SNP G G T TCGA-HT-7605-01A-11D-2086-08 TCGA-HT-7605-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19d69d6e-e741-4df9-ba72-c14e5111f81f b42925b4-0c56-428a-aca8-cbefe4d9dcaf g.chr16:20471589G>T ENST00000573854.1 + 2 267 c.153G>T c.(151-153)ttG>ttT p.L51F ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000424070.1_Missense_Mutation_p.L51F|ACSM2A_ENST00000417235.2_Intron|ACSM2A_ENST00000396104.2_Missense_Mutation_p.L51F|ACSM2A_ENST00000219054.6_Missense_Mutation_p.L51F|ACSM2A_ENST00000575558.1_Intron|ACSM2A_ENST00000575690.1_Missense_Mutation_p.L51F NM_001010845.2 NP_001010845.1 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 2A 51 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1) 51 GTGATGTGTTGGATCACTGGG 0.453000 4 57 0.217242 0.224139 1 1 0 CLDN7 1366 broad.mit.edu 37 17 7163696 7163696 + Silent SNP C C T TCGA-HT-7605-01A-11D-2086-08 TCGA-HT-7605-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19d69d6e-e741-4df9-ba72-c14e5111f81f b42925b4-0c56-428a-aca8-cbefe4d9dcaf g.chr17:7163696C>T ENST00000360325.7 - 4 1067 c.633G>A c.(631-633)gtG>gtA p.V211V CLDN7_ENST00000538261.3_3'UTR|CLDN7_ENST00000397317.4_Silent_p.V211V|RP1-4G17.5_ENST00000577138.1_Intron NM_001307.5 NP_001298.3 O95471 CLD7_HUMAN claudin 7 211 Interactions with TJP1, TJP2 and TJP3 (By similarity). calcium-independent cell-cell adhesion integral to membrane|lateral plasma membrane|tight junction identical protein binding|structural molecule activity kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1) 6 TCCCAGGTCACACATACTCCT 0.597000 7 153 0 0 1 0 0 CORO2A 7464 broad.mit.edu 37 9 100897226 100897226 + Missense_Mutation SNP C C A TCGA-HT-7605-01A-11D-2086-08 TCGA-HT-7605-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19d69d6e-e741-4df9-ba72-c14e5111f81f b42925b4-0c56-428a-aca8-cbefe4d9dcaf g.chr9:100897226C>A ENST00000343933.5 - 4 587 c.330G>T c.(328-330)tgG>tgT p.W110C CORO2A_ENST00000375077.4_Missense_Mutation_p.W110C NM_003389.3 NP_003380.3 Q92828 COR2A_HUMAN coronin, actin binding protein, 2A 110 actin cytoskeleton organization|intracellular signal transduction actin cytoskeleton|transcriptional repressor complex actin filament binding endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1) 26 Acute lymphoblastic leukemia(62;0.0559) TGGGGATGCTCCAGATCTTAA 0.632000 22 52 7.88262e-20 9.14947e-20 1 1 0 AJ271736.10 0 broad.mit.edu 37 X 155255062 155255062 + RNA SNP C C G TCGA-HT-7605-01A-11D-2086-08 TCGA-HT-7605-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19d69d6e-e741-4df9-ba72-c14e5111f81f b42925b4-0c56-428a-aca8-cbefe4d9dcaf g.chrX:155255062C>G ENST00000285718.7 + 0 1367 WASH6P_ENST00000461007.1_RNA CACCTTCCCCCCCAGACCCAG 0.627000 3 69 0 0 1 0 0 FBXO40 51725 broad.mit.edu 37 3 121340407 121340407 + Missense_Mutation SNP C C G TCGA-HT-7605-01A-11D-2086-08 TCGA-HT-7605-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19d69d6e-e741-4df9-ba72-c14e5111f81f b42925b4-0c56-428a-aca8-cbefe4d9dcaf g.chr3:121340407C>G ENST00000338040.4 + 3 545 c.131C>G c.(130-132)gCc>gGc p.A44G NM_016298.3 NP_057382.2 Q9UH90 FBX40_HUMAN F-box protein 40 44 muscle cell differentiation centrosome|nucleus ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 GBM - Glioblastoma multiforme(114;0.189) CTCTGTGGTGCCACCTTCCAC 0.572000 9 109 0 0 1 0 0 MYT1 4661 broad.mit.edu 37 20 62839350 62839350 + Silent SNP G G A TCGA-HT-7605-01A-11D-2086-08 TCGA-HT-7605-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19d69d6e-e741-4df9-ba72-c14e5111f81f b42925b4-0c56-428a-aca8-cbefe4d9dcaf g.chr20:62839350G>A ENST00000536311.1 + 7 1165 c.801G>A c.(799-801)gaG>gaA p.E267E MYT1_ENST00000328439.1_Silent_p.E267E|MYT1_ENST00000360149.4_Intron Q01538 MYT1_HUMAN myelin transcription factor 1 267 Glu-rich. cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) aggaggaggaggaagaggagg 0.577000 3 10 0 0 1 0 0 CHD7 55636 broad.mit.edu 37 8 61735226 61735226 + Missense_Mutation SNP T T G TCGA-HT-7605-01A-11D-2086-08 TCGA-HT-7605-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19d69d6e-e741-4df9-ba72-c14e5111f81f b42925b4-0c56-428a-aca8-cbefe4d9dcaf g.chr8:61735226T>G ENST00000423902.2 + 12 3601 c.3122T>G c.(3121-3123)tTg>tGg p.L1041W CHD7_ENST00000524602.1_Intron|CHD7_ENST00000525508.1_Missense_Mutation_p.L1041W NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 1041 Helicase ATP-binding. central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) TGGACAGAGTTGAACGTGGTT 0.433000 6 201 0 0 1 0 0 LAMC3 10319 broad.mit.edu 37 9 133917071 133917071 + Missense_Mutation SNP G G T rs143849259 TCGA-HT-7605-01A-11D-2086-08 TCGA-HT-7605-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19d69d6e-e741-4df9-ba72-c14e5111f81f b42925b4-0c56-428a-aca8-cbefe4d9dcaf g.chr9:133917071G>T ENST00000361069.4 + 7 1464 c.1331G>T c.(1330-1332)cGc>cTc p.R444L LAMC3_ENST00000480883.1_3'UTR NM_006059.3 NP_006050.3 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 444 Laminin EGF-like 4. cell adhesion basement membrane|membrane structural molecule activity endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 69 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) TGTGACCCCCGCAGTGGGCGC 0.547000 3 62 1 1 1 1 0 KIAA0226 9711 broad.mit.edu 37 3 197408183 197408183 + Silent SNP G G A TCGA-HT-7605-01A-11D-2086-08 TCGA-HT-7605-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19d69d6e-e741-4df9-ba72-c14e5111f81f b42925b4-0c56-428a-aca8-cbefe4d9dcaf g.chr3:197408183G>A ENST00000273582.5 - 17 2657 c.2112C>T c.(2110-2112)tgC>tgT p.C704C KIAA0226_ENST00000389665.5_Silent_p.C774C|KIAA0226_ENST00000296343.5_Silent_p.C749C NM_001145642.2 NP_001139114.1 Q92622 RUBIC_HUMAN KIAA0226 749 autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis early endosome|late endosome|lysosome protein binding NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(93;0.0446) TCTCGTGGCAGCACTGGCAGA 0.527000 4 149 0 0 1 0 0 HAS1 3036 broad.mit.edu 37 19 52220383 52220383 + Missense_Mutation SNP C C T TCGA-HT-7605-01A-11D-2086-08 TCGA-HT-7605-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19d69d6e-e741-4df9-ba72-c14e5111f81f b42925b4-0c56-428a-aca8-cbefe4d9dcaf g.chr19:52220383C>T ENST00000540069.2 - 3 823 c.763G>A c.(763-765)Gag>Aag p.E255K HAS1_ENST00000222115.1_Missense_Mutation_p.E256K|HAS1_ENST00000594621.1_Missense_Mutation_p.E110K|HAS1_ENST00000601714.1_Missense_Mutation_p.E263K Q92839 HAS1_HUMAN hyaluronan synthase 1 256 cell adhesion integral to plasma membrane hyaluronan synthase activity|protein binding breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4) 40 all_neural(266;0.0189)|Medulloblastoma(540;0.146) GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) CGGGGGTCCTCGTCCAGTACC 0.622000 13 69 0 0 1 0 0 CLIC4 25932 broad.mit.edu 37 1 25140630 25140630 + Silent SNP A A G TCGA-HT-7605-01A-11D-2086-08 TCGA-HT-7605-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19d69d6e-e741-4df9-ba72-c14e5111f81f b42925b4-0c56-428a-aca8-cbefe4d9dcaf g.chr1:25140630A>G ENST00000374379.4 + 3 425 c.228A>G c.(226-228)ccA>ccG p.P76P CLIC4_ENST00000497755.1_3'UTR NM_013943.2 NP_039234.1 Q9Y696 CLIC4_HUMAN chloride intracellular channel 4 76 Required for insertion into the membrane (Probable). cellular response to calcium ion|establishment or maintenance of apical/basal cell polarity|keratinocyte differentiation|negative regulation of cell migration|regulation of cytoskeleton organization actin cytoskeleton|apical part of cell|cell surface|cell-cell junction|centrosome|chloride channel complex|cytoplasmic vesicle membrane|cytosol|microvillus|midbody|mitochondrion|nuclear matrix|perinuclear region of cytoplasm|soluble fraction voltage-gated chloride channel activity large_intestine(3)|lung(2)|skin(1) 6 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18) CCCACCCACCATTTATAACTT 0.398000 12 69 0 0 1 0 0 GEMIN6 79833 broad.mit.edu 37 2 39008705 39008705 + Missense_Mutation SNP G G A TCGA-HT-7605-01A-11D-2086-08 TCGA-HT-7605-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19d69d6e-e741-4df9-ba72-c14e5111f81f b42925b4-0c56-428a-aca8-cbefe4d9dcaf g.chr2:39008705G>A ENST00000281950.2 + 3 291 c.175G>A c.(175-177)Gga>Aga p.G59R GEMIN6_ENST00000409566.1_3'UTR|GEMIN6_ENST00000409011.1_3'UTR NM_024775.9 NP_079051.9 Q8WXD5 GEMI6_HUMAN gem (nuclear organelle) associated protein 6 59 ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly Cajal body|cytosol|spliceosomal complex protein binding kidney(1)|large_intestine(3)|pancreas(1) 5 all_hematologic(82;0.21) GTCTGTGACCGGAATTATGGG 0.443000 35 100 0 0 1 0 0 KANK3 256949 broad.mit.edu 37 19 8398111 8398111 + Missense_Mutation SNP C C T TCGA-HT-7605-01A-11D-2086-08 TCGA-HT-7605-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19d69d6e-e741-4df9-ba72-c14e5111f81f b42925b4-0c56-428a-aca8-cbefe4d9dcaf g.chr19:8398111C>T ENST00000330915.3 - 7 1788 c.1723G>A c.(1723-1725)Gca>Aca p.A575T KANK3_ENST00000593649.1_Missense_Mutation_p.A575T NM_198471.2 NP_940873.2 Q6NY19 KANK3_HUMAN KN motif and ankyrin repeat domains 3 575 breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1) 9 AGGCGCACTGCGCCCTGCAAG 0.697000 3 33 0 0 1 0 0 GPR162 27239 broad.mit.edu 37 12 6933475 6933475 + Silent SNP C C T rs146153056 TCGA-HT-7605-01A-11D-2086-08 TCGA-HT-7605-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19d69d6e-e741-4df9-ba72-c14e5111f81f b42925b4-0c56-428a-aca8-cbefe4d9dcaf g.chr12:6933475C>T ENST00000311268.3 + 2 1198 c.411C>T c.(409-411)gcC>gcT p.A137A GPR162_ENST00000428545.2_Intron|GPR162_ENST00000541431.1_3'UTR|GPR162_ENST00000382315.3_Intron NM_019858.1 NP_062832.1 Q16538 GP162_HUMAN G protein-coupled receptor 162 137 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1) 18 CACTGCATGCCGTCATGGGCA 0.617000 28 51 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178936092 178936092 + Missense_Mutation SNP A A G rs121913274 TCGA-HT-7605-01A-11D-2086-08 TCGA-HT-7605-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19d69d6e-e741-4df9-ba72-c14e5111f81f b42925b4-0c56-428a-aca8-cbefe4d9dcaf g.chr3:178936092A>G ENST00000263967.3 + 10 1791 c.1634A>G c.(1633-1635)gAg>gGg p.E545G NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 545 PI3K helical. E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E545A(96)|p.E545G(78)|p.E545V(4) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) GAAATCACTGAGCAGGAGAAA 0.353000 E545A(AGS_STOMACH)|E545G(KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 4 49 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-HT-7605-01A-11D-2086-08 TCGA-HT-7605-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19d69d6e-e741-4df9-ba72-c14e5111f81f b42925b4-0c56-428a-aca8-cbefe4d9dcaf g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 29 58 0 0 1 0 0 ATN1 1822 broad.mit.edu 37 12 7048208 7048208 + Missense_Mutation SNP G G A TCGA-HT-7605-01A-11D-2086-08 TCGA-HT-7605-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19d69d6e-e741-4df9-ba72-c14e5111f81f b42925b4-0c56-428a-aca8-cbefe4d9dcaf g.chr12:7048208G>A ENST00000356654.4 + 7 3319 c.3082G>A c.(3082-3084)Gca>Aca p.A1028T ATN1_ENST00000396684.2_Missense_Mutation_p.A1028T NM_001007026.1 NP_001007027.1 P54259 ATN1_HUMAN atrophin 1 1028 cell death|central nervous system development cytoplasm|nucleus protein domain specific binding p.A1028S(1) breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 GAGGCAGCACGCAGAAAGGGT 0.662000 4 109 0 0 1 0 0 KDM6B 23135 broad.mit.edu 37 17 7752905 7752905 + Missense_Mutation SNP C C A TCGA-HT-7605-01A-11D-2086-08 TCGA-HT-7605-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19d69d6e-e741-4df9-ba72-c14e5111f81f b42925b4-0c56-428a-aca8-cbefe4d9dcaf g.chr17:7752905C>A ENST00000254846.5 + 11 3688 c.3299C>A c.(3298-3300)cCc>cAc p.P1100H KDM6B_ENST00000448097.2_Missense_Mutation_p.P1100H NM_001080424.1 NP_001073893.1 O15054 KDM6B_HUMAN lysine (K)-specific demethylase 6B 1100 inflammatory response nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5) 37 GAGGGGCCCCCCAAGGAGCTG 0.632000 3 30 2.56e-06 2.86897e-06 1 1 0 ASAP1 50807 broad.mit.edu 37 8 131370312 131370312 + Missense_Mutation SNP A A C TCGA-HT-7605-01A-11D-2086-08 TCGA-HT-7605-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19d69d6e-e741-4df9-ba72-c14e5111f81f b42925b4-0c56-428a-aca8-cbefe4d9dcaf g.chr8:131370312A>C ENST00000357668.1 - 2 164 c.137T>G c.(136-138)tTc>tGc p.F46C ASAP1_ENST00000518721.1_Missense_Mutation_p.F46C Q9ULH1 ASAP1_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 46 cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction cytoplasm|membrane ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 68 CCGCGTGGTGAAGCTGGACGT 0.677000 7 27 0 0 1 0 0 FREM2 341640 broad.mit.edu 37 13 39265629 39265629 + Missense_Mutation SNP T T C TCGA-HT-7605-01A-11D-2086-08 TCGA-HT-7605-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19d69d6e-e741-4df9-ba72-c14e5111f81f b42925b4-0c56-428a-aca8-cbefe4d9dcaf g.chr13:39265629T>C ENST00000280481.7 + 1 4364 c.4148T>C c.(4147-4149)gTc>gCc p.V1383A NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 1383 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) ATTCAGTATGTCCATTTGGGG 0.413000 11 156 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100685718 100685718 + Missense_Mutation SNP C C T TCGA-HT-7605-01A-11D-2086-08 TCGA-HT-7605-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19d69d6e-e741-4df9-ba72-c14e5111f81f b42925b4-0c56-428a-aca8-cbefe4d9dcaf g.chr7:100685718C>T ENST00000306151.4 + 3 11085 c.11021C>T c.(11020-11022)tCa>tTa p.S3674L NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3674 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CAAGTCAGTTCATCTCCTGTG 0.522000 5 253 0 0 1 0 0 GIMAP5 55340 broad.mit.edu 37 7 150439641 150439641 + Silent SNP T T C TCGA-HT-7605-01A-11D-2086-08 TCGA-HT-7605-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19d69d6e-e741-4df9-ba72-c14e5111f81f b42925b4-0c56-428a-aca8-cbefe4d9dcaf g.chr7:150439641T>C ENST00000358647.3 + 3 781 c.414T>C c.(412-414)ttT>ttC p.F138F GIMAP5_ENST00000479556.1_3'UTR NM_018384.4 NP_060854.2 GTPase, IMAP family member 5 central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2) 19 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AAGAGGTCTTTGGGACAGGGG 0.582000 15 114 0 0 1 0 0 SH3BP5L 80851 broad.mit.edu 37 1 249107313 249107313 + Nonsense_Mutation SNP G G A TCGA-HT-7605-01A-11D-2086-08 TCGA-HT-7605-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19d69d6e-e741-4df9-ba72-c14e5111f81f b42925b4-0c56-428a-aca8-cbefe4d9dcaf g.chr1:249107313G>A ENST00000366472.5 - 6 1815 c.586C>T c.(586-588)Cga>Tga p.R196* SH3BP5L_ENST00000411742.2_Nonsense_Mutation_p.R164*|SH3BP5L_ENST00000475978.1_5'UTR NM_030645.1 NP_085148.1 Q7L8J4 3BP5L_HUMAN SH3-binding domain protein 5-like 196 endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.19) OV - Ovarian serous cystadenocarcinoma(106;0.00805) CGAGTCACTCGCTGGTGCTCC 0.632000 3 24 0 0 1 0 0 PIWIL2 55124 broad.mit.edu 37 8 22146091 22146091 + Missense_Mutation SNP G G A TCGA-HT-7605-01A-11D-2086-08 TCGA-HT-7605-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19d69d6e-e741-4df9-ba72-c14e5111f81f b42925b4-0c56-428a-aca8-cbefe4d9dcaf g.chr8:22146091G>A ENST00000356766.6 + 8 1046 c.898G>A c.(898-900)Gct>Act p.A300T PIWIL2_ENST00000454009.2_Missense_Mutation_p.A300T|PIWIL2_ENST00000521356.1_Missense_Mutation_p.A300T NM_018068.3 NP_060538.2 Q8TC59 PIWL2_HUMAN piwi-like RNA-mediated gene silencing 2 300 DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis chromatoid body|pi-body piRNA binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 46 Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707) AACAGACAGTGCTGAAATCAG 0.383000 4 69 0 0 1 0 0 SLC25A39 51629 broad.mit.edu 37 17 42399117 42399117 + Missense_Mutation SNP C C T TCGA-HT-7605-01A-11D-2086-08 TCGA-HT-7605-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19d69d6e-e741-4df9-ba72-c14e5111f81f b42925b4-0c56-428a-aca8-cbefe4d9dcaf g.chr17:42399117C>T ENST00000225308.8 - 6 493 c.319G>A c.(319-321)Gtg>Atg p.V107M SLC25A39_ENST00000377095.5_Missense_Mutation_p.V115M|SLC25A39_ENST00000537904.2_Missense_Mutation_p.V92M|SLC25A39_ENST00000586016.1_De_novo_Start_InFrame|SLC25A39_ENST00000590194.1_Missense_Mutation_p.V107M NM_016016.2 NP_057100.1 Q9BZJ4 S2539_HUMAN solute carrier family 25, member 39 115 heme biosynthetic process|transport integral to membrane|mitochondrial inner membrane endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 7 Prostate(33;0.0233) BRCA - Breast invasive adenocarcinoma(366;0.189) TCGTGCCTCACGATCTTCACG 0.637000 13 38 0 0 1 0 0 ZNF764 92595 broad.mit.edu 37 16 30566916 30566916 + Missense_Mutation SNP G G T TCGA-HT-7605-01A-11D-2086-08 TCGA-HT-7605-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19d69d6e-e741-4df9-ba72-c14e5111f81f b42925b4-0c56-428a-aca8-cbefe4d9dcaf g.chr16:30566916G>T ENST00000395091.2 - 3 1138 c.823C>A c.(823-825)Cag>Aag p.Q275K AC002310.13_ENST00000568114.1_Intron|ZNF764_ENST00000252797.2_Missense_Mutation_p.Q276K Q96H86 ZN764_HUMAN zinc finger protein 764 276 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1) 7 CGCCGGTGCTGGTAGAGGGCA 0.726000 3 9 0.115264 0.120841 1 1 0 KDM3A 55818 broad.mit.edu 37 2 86697513 86697513 + Missense_Mutation SNP G G A TCGA-HT-7605-01A-11D-2086-08 TCGA-HT-7605-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19d69d6e-e741-4df9-ba72-c14e5111f81f b42925b4-0c56-428a-aca8-cbefe4d9dcaf g.chr2:86697513G>A ENST00000409556.1 + 12 2071 c.1706G>A c.(1705-1707)cGc>cAc p.R569H KDM3A_ENST00000485171.1_3'UTR|KDM3A_ENST00000542128.1_Missense_Mutation_p.R517H|KDM3A_ENST00000312912.5_Missense_Mutation_p.R569H|KDM3A_ENST00000409064.1_Missense_Mutation_p.R569H Q9Y4C1 KDM3A_HUMAN lysine (K)-specific demethylase 3A 569 androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent cytoplasm|nucleus androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2) 47 GTGTTTTGCCGCTTCTTTCAC 0.453000 4 99 0 0 1 0 0 NOL6 65083 broad.mit.edu 37 9 33467861 33467861 + Missense_Mutation SNP C C T TCGA-HT-7605-01A-11D-2086-08 TCGA-HT-7605-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19d69d6e-e741-4df9-ba72-c14e5111f81f b42925b4-0c56-428a-aca8-cbefe4d9dcaf g.chr9:33467861C>T ENST00000379471.2 - 12 1517 c.1430G>A c.(1429-1431)cGt>cAt p.R477H NOL6_ENST00000455041.2_Missense_Mutation_p.R425H|NOL6_ENST00000464829.1_Intron Q9H6R4 NOL6_HUMAN nucleolar protein 6 (RNA-associated) 477 rRNA processing condensed nuclear chromosome|nucleolus RNA binding endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2) 27 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.152) ACTCAGTGGACGGAGACTGGA 0.602000 4 47 0 0 1 0 0 RFX7 64864 broad.mit.edu 37 15 56387426 56387426 + Nonsense_Mutation SNP G G A TCGA-HT-7605-01A-11D-2086-08 TCGA-HT-7605-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19d69d6e-e741-4df9-ba72-c14e5111f81f b42925b4-0c56-428a-aca8-cbefe4d9dcaf g.chr15:56387426G>A ENST00000423270.1 - 9 2499 c.2500C>T c.(2500-2502)Cag>Tag p.Q834* RFX7_ENST00000422057.1_Nonsense_Mutation_p.Q737*|RFX7_ENST00000317318.6_Nonsense_Mutation_p.Q834*|RFX7_ENST00000559447.2_Nonsense_Mutation_p.Q737* NM_022841.5 NP_073752.5 Q2KHR2 RFX7_HUMAN regulatory factor X, 7 737 regulation of transcription, DNA-dependent nucleus DNA binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 CTATGTAGCTGCTGGCTATAT 0.393000 8 132 0 0 1 0 0 TBC1D4 9882 broad.mit.edu 37 13 75861015 75861015 + Silent SNP G G A TCGA-HT-7605-01A-11D-2086-08 TCGA-HT-7605-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19d69d6e-e741-4df9-ba72-c14e5111f81f b42925b4-0c56-428a-aca8-cbefe4d9dcaf g.chr13:75861015G>A ENST00000377636.3 - 21 4156 c.3810C>T c.(3808-3810)ccC>ccT p.P1270P TBC1D4_ENST00000431480.2_Silent_p.P1262P|TBC1D4_ENST00000377625.2_Silent_p.P1207P|TBC1D4_ENST00000425511.1_Silent_p.P434P NM_014832.2 NP_055647.2 O60343 TBCD4_HUMAN TBC1 domain family, member 4 1270 cytoplasm Rab GTPase activator activity p.P1270P(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Prostate(6;0.014)|Breast(118;0.0982) GBM - Glioblastoma multiforme(99;0.0116) GAGCATCCGCGGGCAGCAGCT 0.453000 3 56 0 0 1 0 0 FMR1NB 158521 broad.mit.edu 37 X 147106438 147106438 + Missense_Mutation SNP A A G TCGA-HT-7605-01A-11D-2086-08 TCGA-HT-7605-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19d69d6e-e741-4df9-ba72-c14e5111f81f b42925b4-0c56-428a-aca8-cbefe4d9dcaf g.chrX:147106438A>G ENST00000370467.3 + 5 760 c.686A>G c.(685-687)aAg>aGg p.K229R NM_152578.2 NP_689791.1 Q8N0W7 FMR1N_HUMAN fragile X mental retardation 1 neighbor 229 integral to membrane breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1) 25 Acute lymphoblastic leukemia(192;6.56e-05) ACGGGTTTGAAGAAACAAAGA 0.413000 3 45 0 0 1 0 0 ACTG2 72 broad.mit.edu 37 2 74146597 74146597 + Silent SNP C C T TCGA-HT-7605-01A-11D-2086-08 TCGA-HT-7605-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19d69d6e-e741-4df9-ba72-c14e5111f81f b42925b4-0c56-428a-aca8-cbefe4d9dcaf g.chr2:74146597C>T ENST00000409624.1 + 10 1669 c.1026C>T c.(1024-1026)atC>atT p.I342I ACTG2_ENST00000409731.3_Silent_p.I299I|ACTG2_ENST00000345517.3_Silent_p.I342I P63267 ACTH_HUMAN actin, gamma 2, smooth muscle, enteric 342 muscle contraction cytoskeleton|cytosol ATP binding large_intestine(3)|lung(14)|skin(1) 18 CAGTCTGGATCGGGGGCTCTA 0.527000 10 85 0 0 1 0 0 PTPRU 10076 broad.mit.edu 37 1 29585123 29585123 + Nonsense_Mutation SNP C C A TCGA-HT-7605-01A-11D-2086-08 TCGA-HT-7605-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19d69d6e-e741-4df9-ba72-c14e5111f81f b42925b4-0c56-428a-aca8-cbefe4d9dcaf g.chr1:29585123C>A ENST00000323874.8 + 3 422 c.312C>A c.(310-312)taC>taA p.Y104* PTPRU_ENST00000460170.2_Nonsense_Mutation_p.Y104*|PTPRU_ENST00000428026.2_Nonsense_Mutation_p.Y104*|PTPRU_ENST00000373779.3_Nonsense_Mutation_p.Y104*|PTPRU_ENST00000356870.3_Nonsense_Mutation_p.Y104*|PTPRU_ENST00000345512.3_Nonsense_Mutation_p.Y104* Q92729 PTPRU_HUMAN protein tyrosine phosphatase, receptor type, U 104 MAM. canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway cell-cell junction|integral to plasma membrane beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 79 Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871) AGTTCAGCTACTTCCTGTACA 0.602000 19 190 1.9806e-07 2.25858e-07 1 1 0 RALA 5898 broad.mit.edu 37 7 39726381 39726381 + Splice_Site SNP G G T TCGA-HT-7605-01A-11D-2086-08 TCGA-HT-7605-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19d69d6e-e741-4df9-ba72-c14e5111f81f b42925b4-0c56-428a-aca8-cbefe4d9dcaf g.chr7:39726381G>T ENST00000005257.2 + 2 494 c.e2+1 RALA_ENST00000468201.1_Intron NM_005402.3 NP_005393.2 P11233 RALA_HUMAN v-ral simian leukemia viral oncogene homolog A (ras related) actin cytoskeleton reorganization|cell cycle|chemotaxis|cytokinesis|exocytosis|interspecies interaction between organisms|membrane raft localization|nerve growth factor receptor signaling pathway|positive regulation of filopodium assembly|Ras protein signal transduction|regulation of exocytosis cell surface|cleavage furrow|cytosol|midbody|plasma membrane Edg-2 lysophosphatidic acid receptor binding|GTP binding|GTPase activity NS(1)|central_nervous_system(1)|large_intestine(2)|lung(9)|skin(3) 16 GTACGATGAGGTAAGTGCTAA 0.418000 4 45 0.00024832 0.000264603 1 1 0 FAT3 120114 broad.mit.edu 37 11 92523169 92523169 + Missense_Mutation SNP G G A rs141835444 by1000genomes TCGA-HT-7605-01A-11D-2086-08 TCGA-HT-7605-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19d69d6e-e741-4df9-ba72-c14e5111f81f b42925b4-0c56-428a-aca8-cbefe4d9dcaf g.chr11:92523169G>A ENST00000298047.6 + 7 4413 c.4396G>A c.(4396-4398)Gat>Aat p.D1466N FAT3_ENST00000409404.2_Missense_Mutation_p.D1466N|FAT3_ENST00000525166.1_Missense_Mutation_p.D1316N Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 1466 Cadherin 14. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GCCGAATTACGATGTGACAAT 0.408000 TCGA Ovarian(4;0.039) 4 148 0 0 1 0 0 UXS1 80146 broad.mit.edu 37 2 106746145 106746145 + Missense_Mutation SNP T T C TCGA-HT-7605-01A-11D-2086-08 TCGA-HT-7605-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19d69d6e-e741-4df9-ba72-c14e5111f81f b42925b4-0c56-428a-aca8-cbefe4d9dcaf g.chr2:106746145T>C ENST00000283148.7 - 7 659 c.562A>G c.(562-564)Aca>Gca p.T188A UXS1_ENST00000540130.1_Missense_Mutation_p.T126A|UXS1_ENST00000409501.3_Missense_Mutation_p.T183A|UXS1_ENST00000409032.1_Missense_Mutation_p.T15A|UXS1_ENST00000428048.2_Intron NM_001253875.1|NM_025076.4 NP_001240804.1|NP_079352.2 Q8NBZ7 UXS1_HUMAN UDP-glucuronate decarboxylase 1 183 cellular metabolic process Golgi cisterna membrane|integral to membrane coenzyme binding|UDP-glucuronate decarboxylase activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2) 17 ATGTTTAATGTCCCAATCGTA 0.378000 12 20 0 0 1 0 0 CACNA1G 8913 broad.mit.edu 37 17 48652951 48652951 + Silent SNP G G A TCGA-HT-7605-01A-11D-2086-08 TCGA-HT-7605-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19d69d6e-e741-4df9-ba72-c14e5111f81f b42925b4-0c56-428a-aca8-cbefe4d9dcaf g.chr17:48652951G>A ENST00000352832.5 + 8 1560 c.1188G>A c.(1186-1188)acG>acA p.T396T CACNA1G_ENST00000514717.1_Silent_p.T396T|CACNA1G_ENST00000505165.1_Silent_p.T396T|CACNA1G_ENST00000503485.1_Silent_p.T396T|CACNA1G_ENST00000429973.2_Silent_p.T396T|CACNA1G_ENST00000507510.2_Silent_p.T396T|CACNA1G_ENST00000507609.1_Silent_p.T396T|CACNA1G_ENST00000507336.1_Silent_p.T396T|CACNA1G_ENST00000358244.5_Silent_p.T396T|CACNA1G_ENST00000354983.4_Silent_p.T396T|CACNA1G_ENST00000359106.5_Silent_p.T396T|CACNA1G_ENST00000510366.1_Silent_p.T396T|CACNA1G_ENST00000515765.1_Silent_p.T396T|CACNA1G_ENST00000515411.1_Silent_p.T396T|CACNA1G_ENST00000515165.1_Silent_p.T396T|CACNA1G_ENST00000416767.4_Silent_p.T396T|CACNA1G_ENST00000510115.1_Silent_p.T396T|CACNA1G_ENST00000514181.1_Silent_p.T396T|CACNA1G_ENST00000360761.4_Silent_p.T396T|CACNA1G_ENST00000514079.1_Silent_p.T396T|CACNA1G_ENST00000513964.1_Silent_p.T396T|CACNA1G_ENST00000502264.1_Silent_p.T396T|CACNA1G_ENST00000513689.2_Silent_p.T396T|CACNA1G_ENST00000442258.2_Silent_p.T396T|CACNA1G_ENST00000512389.1_Silent_p.T396T|CACNA1G_ENST00000507896.1_Silent_p.T396T NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2 NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 396 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) TGATTGCCACGCAGTTCTCAG 0.572000 19 46 0 0 1 0 0 NCKAP5 344148 broad.mit.edu 37 2 133721292 133721292 + Splice_Site SNP C C T TCGA-HT-7605-01A-11D-2086-08 TCGA-HT-7605-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19d69d6e-e741-4df9-ba72-c14e5111f81f b42925b4-0c56-428a-aca8-cbefe4d9dcaf g.chr2:133721292C>T ENST00000409261.1 - 8 953 c.e8+1 NCKAP5_ENST00000409213.1_Splice_Site|NCKAP5_ENST00000405974.3_Splice_Site|NCKAP5_ENST00000317721.6_Splice_Site NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 protein binding p.?(2) NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 TCATTTCTTACCTCTAGAGCT 0.368000 14 46 0 0 1 0 0 EFTUD1 79631 broad.mit.edu 37 15 82554109 82554109 + Missense_Mutation SNP T T C TCGA-HT-7605-01A-11D-2086-08 TCGA-HT-7605-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19d69d6e-e741-4df9-ba72-c14e5111f81f b42925b4-0c56-428a-aca8-cbefe4d9dcaf g.chr15:82554109T>C ENST00000268206.7 - 2 179 c.11A>G c.(10-12)aAc>aGc p.N4S EFTUD1_ENST00000359445.3_Missense_Mutation_p.N4S NM_024580.5 NP_078856.4 Q7Z2Z2 ETUD1_HUMAN elongation factor Tu GTP binding domain containing 1 4 mature ribosome assembly GTP binding|GTPase activity|ribosome binding|translation elongation factor activity cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 ATCCAAACTGTTGAGCACCAT 0.333000 21 94 0 0 1 0 0 MAATS1 89876 broad.mit.edu 37 3 119465994 119465994 + Silent SNP C C T TCGA-HT-7605-01A-11D-2086-08 TCGA-HT-7605-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19d69d6e-e741-4df9-ba72-c14e5111f81f b42925b4-0c56-428a-aca8-cbefe4d9dcaf g.chr3:119465994C>T ENST00000273390.5 + 15 2012 c.1935C>T c.(1933-1935)tcC>tcT p.S645S RP11-169N13.4_ENST00000489428.2_RNA NM_033364.3 NP_203528.2 MYCBP-associated, testis expressed 1 CTATAAGCTCCTACCTAGAAG 0.373000 12 88 0 0 1 0 0 TAF1 6872 broad.mit.edu 37 X 70626502 70626502 + Missense_Mutation SNP G G T TCGA-HT-7605-01A-11D-2086-08 TCGA-HT-7605-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19d69d6e-e741-4df9-ba72-c14e5111f81f b42925b4-0c56-428a-aca8-cbefe4d9dcaf g.chrX:70626502G>T ENST00000449580.1 + 26 4061 c.4010G>T c.(4009-4011)cGc>cTc p.R1337L TAF1_ENST00000423759.1_Missense_Mutation_p.R1358L|TAF1_ENST00000276072.3_Missense_Mutation_p.R1358L|TAF1_ENST00000373790.4_Missense_Mutation_p.R1337L P21675 TAF1_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa 1337 G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 124 Renal(35;0.156) all_lung(315;0.000321) GATGAGGTTCGCAGAAAATCT 0.398000 6 37 5.18039e-06 5.70721e-06 1 1 0 PXDNL 137902 broad.mit.edu 37 8 52321594 52321594 + Missense_Mutation SNP G G A TCGA-HT-7605-01A-11D-2086-08 TCGA-HT-7605-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19d69d6e-e741-4df9-ba72-c14e5111f81f b42925b4-0c56-428a-aca8-cbefe4d9dcaf g.chr8:52321594G>A ENST00000356297.4 - 17 2690 c.2590C>T c.(2590-2592)Cgc>Tgc p.R864C PXDNL_ENST00000543296.1_Missense_Mutation_p.R864C NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 864 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity p.R864C(1)|p.R63C(1) NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) GGGCTGGAGCGCGCGAAGAGC 0.662000 3 51 0 0 1 0 0 ZNF844 284391 broad.mit.edu 37 19 12187475 12187475 + Missense_Mutation SNP C C G TCGA-HT-7605-01A-11D-2086-08 TCGA-HT-7605-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19d69d6e-e741-4df9-ba72-c14e5111f81f b42925b4-0c56-428a-aca8-cbefe4d9dcaf g.chr19:12187475C>G ENST00000439326.3 + 4 1715 c.1540C>G c.(1540-1542)Cat>Gat p.H514D ZNF844_ENST00000441304.2_3'UTR NM_001136501.1 NP_001129973.1 Q08AG5 ZN844_HUMAN zinc finger protein 844 514 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.H514D(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1) 10 AAAGCCTTCACATCTGCCTCA 0.408000 4 77 0 0 1 0 0 MYH8 4626 broad.mit.edu 37 17 10303716 10303716 + Silent SNP G G A TCGA-HT-7605-01A-11D-2086-08 TCGA-HT-7605-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19d69d6e-e741-4df9-ba72-c14e5111f81f b42925b4-0c56-428a-aca8-cbefe4d9dcaf g.chr17:10303716G>A ENST00000403437.2 - 27 3820 c.3726C>T c.(3724-3726)tcC>tcT p.S1242S CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 1242 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 CCTTGGCTTTGGAAATGGCCT 0.438000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 59 180 0 0 1 0 0 MARCH4 57574 broad.mit.edu 37 2 217234779 217234779 + Frame_Shift_Del DEL G G - TCGA-HT-7605-01A-11D-2086-08 TCGA-HT-7605-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19d69d6e-e741-4df9-ba72-c14e5111f81f b42925b4-0c56-428a-aca8-cbefe4d9dcaf g.chr2:217234779delG ENST00000273067.4 - 1 1971 c.205delC c.(205-207)agfs p.Q69fs NM_020814.2 NP_065865.1 Q9P2E8 MARH4_HUMAN membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase 69 Pro-rich. Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network ubiquitin-protein ligase activity|zinc ion binding breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1) 20 Renal(323;0.0854) Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125) CCGGGGGGCTGGGGGTCGCCG 0.701 2 4 --- --- --- --- HHATL 57467 broad.mit.edu 37 3 42739670 42739672 + In_Frame_Del DEL GAA GAA - TCGA-HT-7605-01A-11D-2086-08 TCGA-HT-7605-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19d69d6e-e741-4df9-ba72-c14e5111f81f b42925b4-0c56-428a-aca8-cbefe4d9dcaf g.chr3:42739670_42739672delGAA ENST00000441594.1 - 6 916_918 c.655_657delTTC c.(655-657)del p.F219del HHATL_ENST00000310417.5_In_Frame_Del_p.F219del NM_020707.3 NP_065758.3 Q9HCP6 HHATL_HUMAN hedgehog acyltransferase-like 219 negative regulation of N-terminal protein palmitoylation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3) 19 KIRC - Kidney renal clear cell carcinoma(284;0.215) TGATGGGCCCGAAGAAGAAGAAG 0.552 7 176 --- --- --- --- PBRM1 55193 broad.mit.edu 37 3 52598217 52598217 + Frame_Shift_Del DEL G G - TCGA-HT-7605-01A-11D-2086-08 TCGA-HT-7605-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19d69d6e-e741-4df9-ba72-c14e5111f81f b42925b4-0c56-428a-aca8-cbefe4d9dcaf g.chr3:52598217delG ENST00000356770.4 - 22 3630 c.3628delC c.(3628-3630)tcfs p.L1210fs PBRM1_ENST00000409767.1_Frame_Shift_Del_p.L1257fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.L1257fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.L1242fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.L1242fs|PBRM1_ENST00000296302.7_Frame_Shift_Del_p.L1242fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.L1217fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.L1217fs|SMIM4_ENST00000476842.1_Intron Q86U86 PB1_HUMAN polybromo 1 1242 BAH 2. Missing (found in a case of clear cell renal carcinoma; somatic mutation). chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1) 335 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) CTGCAGGAGAGGAAGTCCTTG 0.383 """Mis, N, F, S, D, O""" """clear cell renal carcinoma, breast""" 7 98 --- --- --- --- ZBTB20 26137 broad.mit.edu 37 3 114069165 114069166 + Frame_Shift_Del DEL AA AA - TCGA-HT-7605-01A-11D-2086-08 TCGA-HT-7605-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19d69d6e-e741-4df9-ba72-c14e5111f81f b42925b4-0c56-428a-aca8-cbefe4d9dcaf g.chr3:114069165_114069166delAA ENST00000462705.1 - 11 2361_2362 c.1540_1541delTT c.(1540-1542)cfs p.F514fs ZBTB20_ENST00000393785.2_Frame_Shift_Del_p.F514fs|ZBTB20_ENST00000357258.3_Frame_Shift_Del_p.F514fs|ZBTB20_ENST00000474710.1_Frame_Shift_Del_p.F587fs|ZBTB20_ENST00000471418.1_Frame_Shift_Del_p.F514fs|ZBTB20_ENST00000464560.1_Frame_Shift_Del_p.F514fs|ZBTB20_ENST00000481632.1_Frame_Shift_Del_p.F514fs NM_001164343.1 NP_001157815.1 Q9HC78 ZBT20_HUMAN zinc finger and BTB domain containing 20 587 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) TTTGGCGGTGAAAGTCTTGTTG 0.599 16 261 --- --- --- --- FIP1L1 81608 broad.mit.edu 37 4 54324903 54324904 + Frame_Shift_Del DEL AT AT - TCGA-HT-7605-01A-11D-2086-08 TCGA-HT-7605-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19d69d6e-e741-4df9-ba72-c14e5111f81f b42925b4-0c56-428a-aca8-cbefe4d9dcaf g.chr4:54324903_54324904delAT ENST00000337488.6 + 17 1777_1778 c.1583_1584delAT c.(1582-1584)cfs p.H528fs FIP1L1_ENST00000507166.1_Intron|FIP1L1_ENST00000306932.6_Frame_Shift_Del_p.H454fs|FIP1L1_ENST00000358575.5_Frame_Shift_Del_p.H522fs NM_030917.3 NP_112179.2 Q6UN15 FIP1_HUMAN factor interacting with PAPOLA and CPSF1 528 Arg-rich.|Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3. mRNA processing nucleus RNA binding large_intestine(3)|liver(1)|ovary(1)|skin(1) 6 GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134) GAAGAACGACATAGAGAAAGAC 0.381 T PDGFRA idiopathic hypereosinophilic syndrome 11 41 --- --- --- --- AGPAT9 84803 broad.mit.edu 37 4 84509367 84509367 + Frame_Shift_Del DEL A A - rs140308062 byFrequency TCGA-HT-7605-01A-11D-2086-08 TCGA-HT-7605-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19d69d6e-e741-4df9-ba72-c14e5111f81f b42925b4-0c56-428a-aca8-cbefe4d9dcaf g.chr4:84509367delA ENST00000395226.2 + 6 777 c.559delA c.(559-561)aafs p.K187fs AGPAT9_ENST00000264409.4_Frame_Shift_Del_p.K187fs NM_001256421.1 NP_001243350.1 Q53EU6 GPAT3_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 9 187 phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane glycerol-3-phosphate O-acyltransferase activity endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3) 13 Hepatocellular(203;0.114) CTTCAGCCTCAAAAACTGGCT 0.413 7 155 --- --- --- --- C6orf165 154313 broad.mit.edu 37 6 88144700 88144700 + Frame_Shift_Del DEL A A - TCGA-HT-7605-01A-11D-2086-08 TCGA-HT-7605-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19d69d6e-e741-4df9-ba72-c14e5111f81f b42925b4-0c56-428a-aca8-cbefe4d9dcaf g.chr6:88144700delA ENST00000507897.1 + 11 1506 c.1423delA c.(1423-1425)aafs p.K476fs C6ORF165_ENST00000369562.4_Frame_Shift_Del_p.K476fs Q8IYR0 CF165_HUMAN chromosome 6 open reading frame 165 476 NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0419) AGAAAAGGCCAAAAAAAATAC 0.269 9 115 --- --- --- --- TRBV7-1 0 broad.mit.edu 37 7 142032162 142032163 + RNA DEL GA GA - TCGA-HT-7605-01A-11D-2086-08 TCGA-HT-7605-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19d69d6e-e741-4df9-ba72-c14e5111f81f b42925b4-0c56-428a-aca8-cbefe4d9dcaf g.chr7:142032162_142032163delGA ENST00000547918.2 + 0 82 atgtgtgtgtgAGAGAGAGAGA 0.505 4 9 --- --- --- --- RP11-27N21.3 0 broad.mit.edu 37 8 80681146 80681146 + RNA DEL C C - rs34629404 TCGA-HT-7605-01A-11D-2086-08 TCGA-HT-7605-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19d69d6e-e741-4df9-ba72-c14e5111f81f b42925b4-0c56-428a-aca8-cbefe4d9dcaf g.chr8:80681146delC ENST00000607172.1 + 0 77 Tcccccgctgccccccccccc 0.617 2 4 --- --- --- --- RP11-1166P10.6 0 broad.mit.edu 37 16 32095553 32095553 + RNA DEL G G - TCGA-HT-7605-01A-11D-2086-08 TCGA-HT-7605-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19d69d6e-e741-4df9-ba72-c14e5111f81f b42925b4-0c56-428a-aca8-cbefe4d9dcaf g.chr16:32095553delG ENST00000566806.1 - 0 499 CTGGGGCCCCGAGGGAGATGT 0.642 3 5 --- --- --- --- TBC1D28 254272 broad.mit.edu 37 17 18539791 18539791 + Frame_Shift_Del DEL C C - TCGA-HT-7605-01A-11D-2086-08 TCGA-HT-7605-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19d69d6e-e741-4df9-ba72-c14e5111f81f b42925b4-0c56-428a-aca8-cbefe4d9dcaf g.chr17:18539791delC ENST00000345096.4 - 9 1316 c.617delG c.(616-618)gtfs p.G206fs TBC1D28_ENST00000405044.1_Frame_Shift_Del_p.G206fs Q2M2D7 TBC28_HUMAN TBC1 domain family, member 28 206 Rab-GAP TBC. intracellular Rab GTPase activator activity breast(1)|large_intestine(5)|lung(2)|ovary(1) 9 AGTTGCAACACCCCCGAGAGA 0.532 10 176 --- --- --- --- SUPT6H 6830 broad.mit.edu 37 17 27001303 27001305 + In_Frame_Del DEL GAG GAG - TCGA-HT-7605-01A-11D-2086-08 TCGA-HT-7605-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19d69d6e-e741-4df9-ba72-c14e5111f81f b42925b4-0c56-428a-aca8-cbefe4d9dcaf g.chr17:27001303_27001305delGAG ENST00000314616.6 + 3 395_397 c.112_114delGAG c.(112-114)del p.E43del SUPT6H_ENST00000347486.4_In_Frame_Del_p.E43del NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 43 Asp/Glu-rich. chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) TCTTCCAGATGAGGAGGAGGAGG 0.453 10 72 --- --- --- --- NFIX 4784 broad.mit.edu 37 19 13192587 13192589 + In_Frame_Del DEL ACC ACC - TCGA-HT-7605-01A-11D-2086-08 TCGA-HT-7605-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19d69d6e-e741-4df9-ba72-c14e5111f81f b42925b4-0c56-428a-aca8-cbefe4d9dcaf g.chr19:13192587_13192589delACC ENST00000358552.3 + 6 1046_1048 c.1046_1048delACC c.(1045-1050)tac>t p.YH349del NFIX_ENST00000587260.1_In_Frame_Del_p.YH390del|NFIX_ENST00000592199.1_In_Frame_Del_p.YH391del|NFIX_ENST00000397661.2_In_Frame_Del_p.YH391del|NFIX_ENST00000587760.1_In_Frame_Del_p.YH383del|NFIX_ENST00000360105.4_In_Frame_Del_p.YH353del|NFIX_ENST00000585575.1_In_Frame_Del_p.YH383del|NFIX_ENST00000588228.1_In_Frame_Del_p.YH344del Q14938 NFIX_HUMAN nuclear factor I/X (CCAAT-binding transcription factor) 391 DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(19;8.2e-22) ACCATCCGCTACCACCACCACCA 0.645 OREG0025286 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 119 --- --- --- ---