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 AHNAK2 113146 broad.mit.edu 37 14 105419464 105419464 + Missense_Mutation SNP C C T TCGA-HC-A6HY-01A-11D-A31L-08 TCGA-HC-A6HY-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe 69ff5580-dfde-4556-8960-ff3975b593be g.chr14:105419464C>T ENST00000333244.5 - 7 2443 c.2324G>A c.(2323-2325)gGc>gAc p.G775D AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 775 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CAGCTTGGGGCCCTTGAGGTC 0.632000 93 177 0 0 1 0 0 KLHL30 377007 broad.mit.edu 37 2 239049642 239049642 + Missense_Mutation SNP G G C TCGA-HC-A6HY-01A-11D-A31L-08 TCGA-HC-A6HY-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe 69ff5580-dfde-4556-8960-ff3975b593be g.chr2:239049642G>C ENST00000409223.1 + 2 354 c.247G>C c.(247-249)Gtg>Ctg p.V83L KLHL30_ENST00000305959.4_Missense_Mutation_p.V65L Q0D2K2 KLH30_HUMAN kelch-like family member 30 83 BTB. lung(4) 4 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253) GGAGCCCGCCGTGGTGGGACA 0.672000 59 136 0 0 1 0 0 CSNK2A1 1457 broad.mit.edu 37 20 470440 470440 + Missense_Mutation SNP T T C rs61730060 TCGA-HC-A6HY-01A-11D-A31L-08 TCGA-HC-A6HY-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe 69ff5580-dfde-4556-8960-ff3975b593be g.chr20:470440T>C ENST00000217244.3 - 10 1082 c.707A>G c.(706-708)cAt>cGt p.H236R CSNK2A1_ENST00000400217.1_Missense_Mutation_p.H100R|CSNK2A1_ENST00000400227.3_Missense_Mutation_p.H236R|CSNK2A1_ENST00000349736.5_Missense_Mutation_p.H236R|CSNK2A1_ENST00000460062.1_5'UTR NM_177559.2 NP_808227.1 P68400 CSK21_HUMAN casein kinase 2, alpha 1 polypeptide 236 Protein kinase. axon guidance|Wnt receptor signaling pathway cytosol|NuRD complex|plasma membrane|Sin3 complex ATP binding|protein N-terminus binding|protein serine/threonine kinase activity p.H236R(2) autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1) 17 Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.0969) ATAATTGTCATGTCCATGGAA 0.373000 3 43 0 0 1 0 0 CTR9 9646 broad.mit.edu 37 11 10800225 10800225 + Splice_Site SNP G G C TCGA-HC-A6HY-01A-11D-A31L-08 TCGA-HC-A6HY-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe 69ff5580-dfde-4556-8960-ff3975b593be g.chr11:10800225G>C ENST00000361367.2 + 25 3521 c.e25-1 NM_014633.3 NP_055448.1 Q6PD62 CTR9_HUMAN CTR9, Paf1/RNA polymerase II complex component histone H2B ubiquitination|histone monoubiquitination Cdc73/Paf1 complex|nuclear speck breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1) 40 all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) ATCTTTGCCAGACATCCCAGG 0.448000 13 23 0 0 1 0 0 KLC4 89953 broad.mit.edu 37 6 43038170 43038170 + Missense_Mutation SNP C C T TCGA-HC-A6HY-01A-11D-A31L-08 TCGA-HC-A6HY-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe 69ff5580-dfde-4556-8960-ff3975b593be g.chr6:43038170C>T ENST00000394056.2 + 8 1453 c.958C>T c.(958-960)Cgg>Tgg p.R320W KLC4_ENST00000347162.5_Missense_Mutation_p.R320W|KLC4_ENST00000453940.2_Missense_Mutation_p.R243W|KLC4_ENST00000479388.1_Missense_Mutation_p.R320W|KLC4_ENST00000394058.1_Missense_Mutation_p.R320W|KLC4_ENST00000259708.3_Missense_Mutation_p.R338W Q9NSK0 KLC4_HUMAN kinesin light chain 4 320 cytoplasm|kinesin complex|microtubule microtubule motor activity|protein binding endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4) 23 all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453) TCTGTGCCAGCGGGCACTGGA 0.557000 OREG0017448 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 47 0 0 1 0 0 OR51I1 390063 broad.mit.edu 37 11 5462694 5462694 + Silent SNP T T A TCGA-HC-A6HY-01A-11D-A31L-08 TCGA-HC-A6HY-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe 69ff5580-dfde-4556-8960-ff3975b593be g.chr11:5462694T>A ENST00000380211.1 - 1 50 c.51A>T c.(49-51)acA>acT p.T17T AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron NM_001005288.2 NP_001005288.1 Q9H343 O51I1_HUMAN olfactory receptor, family 51, subfamily I, member 1 17 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 30 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CAGGAATGCCTGTCAGCTGGA 0.522000 26 49 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9069310 9069310 + Missense_Mutation SNP A A G TCGA-HC-A6HY-01A-11D-A31L-08 TCGA-HC-A6HY-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe 69ff5580-dfde-4556-8960-ff3975b593be g.chr19:9069310A>G ENST00000397910.4 - 3 18339 c.18136T>C c.(18136-18138)Tct>Cct p.S6046P NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 6048 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TCCATCATAGATCCAGTAACC 0.458000 45 87 0 0 1 0 0 CHEK2P2 0 broad.mit.edu 37 15 20489434 20489434 + RNA SNP C C T TCGA-HC-A6HY-01A-11D-A31L-08 TCGA-HC-A6HY-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe 69ff5580-dfde-4556-8960-ff3975b593be g.chr15:20489434C>T ENST00000555186.1 + 0 422 NR_038836.1 CACTGAAGGACCAGATCACCA 0.413000 5 62 0 0 1 0 0 NPIPA5 100288332 broad.mit.edu 37 16 15457701 15457701 + Missense_Mutation SNP G G A TCGA-HC-A6HY-01A-11D-A31L-08 TCGA-HC-A6HY-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe 69ff5580-dfde-4556-8960-ff3975b593be g.chr16:15457701G>A ENST00000360151.4 - 8 867 c.868C>T c.(868-870)Ctc>Ttc p.L290F NM_001277325.1 NP_001264254.1 nuclear pore complex interacting protein family, member A5 p.L290F(2) AGGGGAGTGAGCAGACACTCG 0.562000 5 144 0 0 1 0 0 TBC1D2B 23102 broad.mit.edu 37 15 78290635 78290635 + Missense_Mutation SNP C C T rs117285325 by1000genomes TCGA-HC-A6HY-01A-11D-A31L-08 TCGA-HC-A6HY-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe 69ff5580-dfde-4556-8960-ff3975b593be g.chr15:78290635C>T ENST00000409931.3 - 13 2778 c.2707G>A c.(2707-2709)Gac>Aac p.D903N TBC1D2B_ENST00000300584.3_Missense_Mutation_p.R920Q|TBC1D2B_ENST00000492078.1_5'UTR Q9UPU7 TBD2B_HUMAN TBC1 domain family, member 2B 0 intracellular protein binding|Rab GTPase activator activity p.D903N(3)|p.R920Q(1) breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 26 GTAGGCGCGTCGGTTCCGGAT 0.617000 3 18 0 0 1 0 0 KIDINS220 57498 broad.mit.edu 37 2 8940605 8940605 + Silent SNP G G A TCGA-HC-A6HY-01A-11D-A31L-08 TCGA-HC-A6HY-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe 69ff5580-dfde-4556-8960-ff3975b593be g.chr2:8940605G>A ENST00000256707.3 - 9 1006 c.825C>T c.(823-825)ggC>ggT p.G275G KIDINS220_ENST00000427284.1_Silent_p.G275G|KIDINS220_ENST00000319688.5_Silent_p.G276G|KIDINS220_ENST00000473731.1_Silent_p.G275G|KIDINS220_ENST00000418530.1_Silent_p.G233G NM_020738.2 NP_065789.1 Q9ULH0 KDIS_HUMAN kinase D-interacting substrate, 220kDa 275 activation of MAPKK activity|nerve growth factor receptor signaling pathway cytosol|integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 60 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) CTCTGACAGCGCCAATCAACA 0.373000 5 179 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135487899 135487899 + Silent SNP T T C TCGA-HC-A6HY-01A-11D-A31L-08 TCGA-HC-A6HY-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe 69ff5580-dfde-4556-8960-ff3975b593be g.chrX:135487899T>C ENST00000394143.1 + 23 8994 c.8703T>C c.(8701-8703)taT>taC p.Y2901Y GPR112_ENST00000370652.1_Silent_p.Y2901Y|GPR112_ENST00000287534.4_Silent_p.Y2654Y|GPR112_ENST00000412101.1_Silent_p.Y2696Y|GPR112_ENST00000394141.1_Silent_p.Y2696Y NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 2901 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) TGGTGGCTTATTTTTGCCTCA 0.368000 4 29 0 0 1 0 0 GDE1 51573 broad.mit.edu 37 16 19519049 19519049 + Missense_Mutation SNP T T C TCGA-HC-A6HY-01A-11D-A31L-08 TCGA-HC-A6HY-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe 69ff5580-dfde-4556-8960-ff3975b593be g.chr16:19519049T>C ENST00000353258.3 - 4 776 c.596A>G c.(595-597)aAt>aGt p.N199S NM_016641.3 NP_057725.1 Q9NZC3 GDE1_HUMAN glycerophosphodiester phosphodiesterase 1 199 GDPD. glycerol metabolic process|lipid metabolic process cytoplasm|integral to membrane glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol glycerophosphodiesterase activity|metal ion binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1) 13 GACCACACTATTATTATACAG 0.318000 24 50 0 0 1 0 0 ACAN 176 broad.mit.edu 37 15 89402162 89402162 + Missense_Mutation SNP G G A TCGA-HC-A6HY-01A-11D-A31L-08 TCGA-HC-A6HY-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe 69ff5580-dfde-4556-8960-ff3975b593be g.chr15:89402162G>A ENST00000439576.2 + 12 6720 c.6346G>A c.(6346-6348)Gcc>Acc p.A2116T ACAN_ENST00000559004.1_Missense_Mutation_p.A2116T|ACAN_ENST00000352105.7_Missense_Mutation_p.A2116T|ACAN_ENST00000561243.1_Missense_Mutation_p.A2116T NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 2116 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) GGCATCTGCCGCCCCTGAGGC 0.562000 19 60 0 0 1 0 0 POU2AF1 5450 broad.mit.edu 37 11 111228347 111228347 + Silent SNP C C T TCGA-HC-A6HY-01A-11D-A31L-08 TCGA-HC-A6HY-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe 69ff5580-dfde-4556-8960-ff3975b593be g.chr11:111228347C>T ENST00000393067.3 - 4 793 c.279G>A c.(277-279)ccG>ccA p.P93P NM_006235.2 NP_006226.2 Q16633 OBF1_HUMAN POU class 2 associating factor 1 93 humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity breast(1)|kidney(2)|lung(2) 5 all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389) Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364) GCAGGGTGGCCGGGGTGGGCT 0.627000 T BCL6 NHL 3 41 0 0 1 0 0 DCHS2 54798 broad.mit.edu 37 4 155298502 155298502 + Missense_Mutation SNP C C T TCGA-HC-A6HY-01A-11D-A31L-08 TCGA-HC-A6HY-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe 69ff5580-dfde-4556-8960-ff3975b593be g.chr4:155298502C>T ENST00000357232.3 - 3 328 c.329G>A c.(328-330)cGg>cAg p.R110Q DCHS2_ENST00000339452.1_Missense_Mutation_p.R716Q NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 110 Cadherin 1. 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) AGGGTCGATCCGGAATGCCTG 0.468000 29 59 0 0 1 0 0 TCF20 6942 broad.mit.edu 37 22 42611326 42611326 + Translation_Start_Site SNP C C T TCGA-HC-A6HY-01A-11D-A31L-08 TCGA-HC-A6HY-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe 69ff5580-dfde-4556-8960-ff3975b593be g.chr22:42611326C>T ENST00000359486.3 - 0 122 TCF20_ENST00000335626.4_De_novo_Start_InFrame NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 TTCAGCAGCACAGCAGCAGGC 0.478000 23 56 0 0 1 0 0 GABRG1 2565 broad.mit.edu 37 4 46067417 46067417 + Missense_Mutation SNP C C T TCGA-HC-A6HY-01A-11D-A31L-08 TCGA-HC-A6HY-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe 69ff5580-dfde-4556-8960-ff3975b593be g.chr4:46067417C>T ENST00000295452.4 - 4 673 c.506G>A c.(505-507)cGa>cAa p.R169Q NM_173536.3 NP_775807.2 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 1 169 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) ATTCCAAATTCGAAGCAGACG 0.323000 21 33 0 0 1 0 0 PDK4 5166 broad.mit.edu 37 7 95217071 95217071 + Missense_Mutation SNP C C T TCGA-HC-A6HY-01A-11D-A31L-08 TCGA-HC-A6HY-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe 69ff5580-dfde-4556-8960-ff3975b593be g.chr7:95217071C>T ENST00000005178.5 - 8 1035 c.838G>A c.(838-840)Gtt>Att p.V280I NM_002612.3 NP_002603.1 Q16654 PDK4_HUMAN pyruvate dehydrogenase kinase, isozyme 4 280 Histidine kinase. glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 15 all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0151) CCCAAGACAACAATAACCTCT 0.388000 3 34 0 0 1 0 0 LRRC7 57554 broad.mit.edu 37 1 70504094 70504094 + Nonsense_Mutation SNP C C T TCGA-HC-A6HY-01A-11D-A31L-08 TCGA-HC-A6HY-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe 69ff5580-dfde-4556-8960-ff3975b593be g.chr1:70504094C>T ENST00000310961.5 + 22 2906 c.2488C>T c.(2488-2490)Cag>Tag p.Q830* LRRC7_ENST00000415775.2_Nonsense_Mutation_p.Q109*|LRRC7_ENST00000035383.5_Nonsense_Mutation_p.Q825* Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 825 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 GGAACTCGAGCAGTCTACACA 0.493000 30 45 0 0 1 0 0 SNX17 9784 broad.mit.edu 37 2 27599352 27599352 + Missense_Mutation SNP C C T TCGA-HC-A6HY-01A-11D-A31L-08 TCGA-HC-A6HY-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe 69ff5580-dfde-4556-8960-ff3975b593be g.chr2:27599352C>T ENST00000233575.2 + 14 1486 c.1264C>T c.(1264-1266)Cct>Tct p.P422S SNX17_ENST00000543024.1_Missense_Mutation_p.P208S|SNX17_ENST00000537606.1_Missense_Mutation_p.P397S|SNX17_ENST00000542478.1_Missense_Mutation_p.P208S NM_001267059.1|NM_001267061.1|NM_014748.3 NP_001253988.1|NP_001253990.1|NP_055563.1 Q15036 SNX17_HUMAN sorting nexin 17 422 cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction cytoplasmic vesicle membrane|cytosol|early endosome|Golgi apparatus low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1) 14 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCAGGAGTCACCTGATGCCAC 0.547000 32 99 0 0 1 0 0 CLEC4A 50856 broad.mit.edu 37 12 8290795 8290795 + Missense_Mutation SNP G G A TCGA-HC-A6HY-01A-11D-A31L-08 TCGA-HC-A6HY-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe 69ff5580-dfde-4556-8960-ff3975b593be g.chr12:8290795G>A ENST00000229332.5 + 6 873 c.626G>A c.(625-627)cGt>cAt p.R209H CLEC4A_ENST00000360500.3_Missense_Mutation_p.R170H|CLEC4A_ENST00000352620.3_Missense_Mutation_p.R176H|CLEC4A_ENST00000345999.3_Missense_Mutation_p.R137H NM_016184.3|NM_194447.2|NM_194450.2 NP_057268.1|NP_919429.2|NP_919432.1 Q9UMR7 CLC4A_HUMAN C-type lectin domain family 4, member A 209 C-type lectin. cell adhesion|cell surface receptor linked signaling pathway|innate immune response integral to plasma membrane sugar binding|transmembrane receptor activity cervix(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1) 11 Kidney(36;0.0915) CTAAATTTTCGTAAATCACCC 0.433000 9 70 0 0 1 0 0 CHST3 9469 broad.mit.edu 37 10 73767311 73767311 + Silent SNP C C T TCGA-HC-A6HY-01A-11D-A31L-08 TCGA-HC-A6HY-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe 69ff5580-dfde-4556-8960-ff3975b593be g.chr10:73767311C>T ENST00000373115.4 + 3 959 c.522C>T c.(520-522)ttC>ttT p.F174F NM_004273.4 NP_004264.2 Q7LGC8 CHST3_HUMAN carbohydrate (chondroitin 6) sulfotransferase 3 174 chondroitin sulfate biosynthetic process Golgi membrane|integral to membrane chondroitin 6-sulfotransferase activity endometrium(1)|lung(5) 6 CAGTGTCCTTCGAGCCGGGGG 0.647000 6 17 0 0 1 0 0 RAG2 5897 broad.mit.edu 37 11 36615227 36615227 + Silent SNP A A G TCGA-HC-A6HY-01A-11D-A31L-08 TCGA-HC-A6HY-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe 69ff5580-dfde-4556-8960-ff3975b593be g.chr11:36615227A>G ENST00000311485.3 - 2 653 c.492T>C c.(490-492)tcT>tcC p.S164S NM_000536.3|NM_001243785.1|NM_001243786.1 NP_000527.2|NP_001230714.1|NP_001230715.1 P55895 RAG2_HUMAN recombination activating gene 2 164 chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination nucleus chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4) 32 all_lung(20;0.226) all_hematologic(20;0.00756) TTCTGTGGGTAGAAGGCATGT 0.453000 Familial Hemophagocytic Lymphohistiocytosis 40 63 0 0 1 0 0 CRTC1 23373 broad.mit.edu 37 19 18856727 18856727 + Missense_Mutation SNP C C T TCGA-HC-A6HY-01A-11D-A31L-08 TCGA-HC-A6HY-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe 69ff5580-dfde-4556-8960-ff3975b593be g.chr19:18856727C>T ENST00000338797.6 + 4 411 c.386C>T c.(385-387)tCc>tTc p.S129F CRTC1_ENST00000321949.8_Missense_Mutation_p.S113F|CRTC1_ENST00000601916.1_Missense_Mutation_p.S38F|CRTC1_ENST00000594658.1_Missense_Mutation_p.S72F NM_001098482.1 NP_001091952.1 Q6UUV9 CRTC1_HUMAN CREB regulated transcription coactivator 1 113 interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane cAMP response element binding protein binding|protein binding CRTC1/MAML2(516) NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1) 19 CGGCTCGGCTCCCCACACCGC 0.692000 35 62 0 0 1 0 0 OR5B2 390190 broad.mit.edu 37 11 58190360 58190360 + Nonsense_Mutation SNP G G T TCGA-HC-A6HY-01A-11D-A31L-08 TCGA-HC-A6HY-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe 69ff5580-dfde-4556-8960-ff3975b593be g.chr11:58190360G>T ENST00000302581.2 - 1 426 c.375C>A c.(373-375)tgC>tgA p.C125* NM_001005566.2 NP_001005566.1 Q96R09 OR5B2_HUMAN olfactory receptor, family 5, subfamily B, member 2 125 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.C125C(1) NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Esophageal squamous(5;0.0027) Breast(21;0.0778) GTAGGGGTTTGCACACTGCTG 0.507000 28 49 1.42536e-11 1.49845e-11 1 1 0 MROH2B 133558 broad.mit.edu 37 5 41048479 41048479 + Missense_Mutation SNP T T C TCGA-HC-A6HY-01A-11D-A31L-08 TCGA-HC-A6HY-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe 69ff5580-dfde-4556-8960-ff3975b593be g.chr5:41048479T>C ENST00000399564.4 - 16 2081 c.1631A>G c.(1630-1632)aAa>aGa p.K544R MROH2B_ENST00000506092.2_Missense_Mutation_p.K99R NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B GTCTACCAATTTTGGGTGAAT 0.478000 5 76 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77766907 77766907 + Missense_Mutation SNP G G A TCGA-HC-A6HY-01A-11D-A31L-08 TCGA-HC-A6HY-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe 69ff5580-dfde-4556-8960-ff3975b593be g.chr8:77766907G>A ENST00000521891.2 + 10 8198 c.7750G>A c.(7750-7752)Gat>Aat p.D2584N ZFHX4_ENST00000455469.2_Missense_Mutation_p.D2539N|ZFHX4_ENST00000050961.6_Missense_Mutation_p.D2539N|ZFHX4_ENST00000518282.1_Missense_Mutation_p.D2558N NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2539 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) GAAACTAGACGATAAAGAAGA 0.507000 HNSCC(33;0.089) 4 48 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179584367 179584367 + Missense_Mutation SNP G G T TCGA-HC-A6HY-01A-11D-A31L-08 TCGA-HC-A6HY-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe 69ff5580-dfde-4556-8960-ff3975b593be g.chr2:179584367G>T ENST00000589042.1 - 82 24076 c.23852C>A c.(23851-23853)gCc>gAc p.A7951D TTN_ENST00000342992.6_Missense_Mutation_p.A6707D|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.A7634D NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 7634 Ig-like 62. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACTCATTTCGGCACAGGGGAT 0.408000 5 117 0.000602214 0.000602214 1 1 0 TGFBI 7045 broad.mit.edu 37 5 135390426 135390426 + Missense_Mutation SNP C C T TCGA-HC-A6HY-01A-11D-A31L-08 TCGA-HC-A6HY-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe 69ff5580-dfde-4556-8960-ff3975b593be g.chr5:135390426C>T ENST00000442011.2 + 10 1447 c.1286C>T c.(1285-1287)gCc>gTc p.A429V TGFBI_ENST00000305126.8_Missense_Mutation_p.A429V NM_000358.2 NP_000349.1 Q15582 BGH3_HUMAN transforming growth factor, beta-induced, 68kDa 429 FAS1 3. angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception extracellular space|proteinaceous extracellular matrix integrin binding breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CCAATTGATGCCCATACAAGG 0.453000 5 333 0 0 1 0 0 SLC41A2 84102 broad.mit.edu 37 12 105198937 105198937 + Missense_Mutation SNP C C G TCGA-HC-A6HY-01A-11D-A31L-08 TCGA-HC-A6HY-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe 69ff5580-dfde-4556-8960-ff3975b593be g.chr12:105198937C>G ENST00000258538.3 - 10 1842 c.1715G>C c.(1714-1716)gGa>gCa p.G572A SLC41A2_ENST00000549713.1_5'UTR NM_032148.3 NP_115524.3 Q96JW4 S41A2_HUMAN solute carrier family 41 (magnesium transporter), member 2 572 integral to membrane|plasma membrane magnesium ion transmembrane transporter activity breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 22 TTATTAGTCTCCAACATCTCC 0.393000 5 264 0 0 1 0 0 RFXANK 8625 broad.mit.edu 37 19 19309477 19309477 + Silent SNP G G A TCGA-HC-A6HY-01A-11D-A31L-08 TCGA-HC-A6HY-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe 69ff5580-dfde-4556-8960-ff3975b593be g.chr19:19309477G>A ENST00000303088.4 + 8 1050 c.576G>A c.(574-576)acG>acA p.T192T RFXANK_ENST00000456252.3_Silent_p.T170T|RFXANK_ENST00000392324.4_Silent_p.T169T|RFXANK_ENST00000353145.1_Silent_p.T169T|RFXANK_ENST00000407360.3_Silent_p.T192T NM_003721.2 NP_003712.1 O14593 RFXK_HUMAN regulatory factor X-associated ankyrin-containing protein 192 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity NS(1)|breast(1)|endometrium(1)|lung(8)|ovary(2)|prostate(1) 14 Epithelial(12;0.00228) ATGGAGGGACGCCACTGCTGT 0.592000 34 61 0 0 1 0 0 AFF2 2334 broad.mit.edu 37 X 148069054 148069054 + Missense_Mutation SNP G G T TCGA-HC-A6HY-01A-11D-A31L-08 TCGA-HC-A6HY-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe 69ff5580-dfde-4556-8960-ff3975b593be g.chrX:148069054G>T ENST00000370460.2 + 20 4260 c.3781G>T c.(3781-3783)Gat>Tat p.D1261Y AFF2_ENST00000342251.3_Missense_Mutation_p.D1228Y|AFF2_ENST00000286437.5_Missense_Mutation_p.D902Y|AFF2_ENST00000370457.5_Missense_Mutation_p.D1226Y NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 1261 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) TGAACACTGGGATATGGCCGA 0.478000 46 23 1.19451e-25 1.28882e-25 1 1 0 OR4S1 256148 broad.mit.edu 37 11 48328501 48328501 + Missense_Mutation SNP A A T TCGA-HC-A6HY-01A-11D-A31L-08 TCGA-HC-A6HY-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe 69ff5580-dfde-4556-8960-ff3975b593be g.chr11:48328501A>T ENST00000319988.1 + 1 727 c.727A>T c.(727-729)Atc>Ttc p.I243F NM_001004725.1 NP_001004725.1 Q8NGB4 OR4S1_HUMAN olfactory receptor, family 4, subfamily S, member 1 243 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3) 21 CTCACACGTAATCACTGTCCT 0.453000 41 93 0 0 1 0 0 RAP2B 5912 broad.mit.edu 37 3 152880765 152880765 + Missense_Mutation SNP C C A TCGA-HC-A6HY-01A-11D-A31L-08 TCGA-HC-A6HY-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe 69ff5580-dfde-4556-8960-ff3975b593be g.chr3:152880765C>A ENST00000323534.2 + 1 737 c.283C>A c.(283-285)Ccc>Acc p.P95T NM_002886.2 NP_002877.2 P61225 RAP2B_HUMAN RAP2B, member of RAS oncogene family 95 Rap protein signal transduction|regulation of protein tyrosine kinase activity recycling endosome membrane GTP binding|GTPase activity NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1) 7 LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11) GGACATCAAGCCCATGCGGGA 0.612000 4 92 0.00024832 0.000254528 1 1 0 TTN 7273 broad.mit.edu 37 2 179623770 179623770 + Missense_Mutation SNP G G A TCGA-HC-A6HY-01A-11D-A31L-08 TCGA-HC-A6HY-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe 69ff5580-dfde-4556-8960-ff3975b593be g.chr2:179623770G>A ENST00000589042.1 - 44 10468 c.10244C>T c.(10243-10245)aCg>aTg p.T3415M TTN_ENST00000360870.5_Missense_Mutation_p.T3415M|TTN_ENST00000342992.6_Missense_Mutation_p.T3415M|TTN_ENST00000342175.6_Missense_Mutation_p.T3369M|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T3369M|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T3369M|TTN_ENST00000591111.1_Missense_Mutation_p.T3415M NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 3128 Ig-like 20. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AGCAACAAACGTGTAAGTTCC 0.383000 19 52 0 0 1 0 0 LRRC8B 23507 broad.mit.edu 37 1 90048354 90048354 + Nonsense_Mutation SNP C C T TCGA-HC-A6HY-01A-11D-A31L-08 TCGA-HC-A6HY-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe 69ff5580-dfde-4556-8960-ff3975b593be g.chr1:90048354C>T ENST00000330947.2 + 5 505 c.145C>T c.(145-147)Cag>Tag p.Q49* LRRC8B_ENST00000358200.4_Nonsense_Mutation_p.Q49*|LRRC8B_ENST00000439853.1_Nonsense_Mutation_p.Q49* NM_001134476.1 NP_001127948.1 Q6P9F7 LRC8B_HUMAN leucine rich repeat containing 8 family, member B 49 integral to membrane breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 26 all_lung(203;0.17) all cancers(265;0.00515)|Epithelial(280;0.0241) CCAGCTGACGCAGAGCAGGGT 0.507000 5 87 0 0 1 0 0 AC007040.8 0 broad.mit.edu 37 2 71283122 71283123 + RNA INS - - T rs35074164 TCGA-HC-A6HY-01A-11D-A31L-08 TCGA-HC-A6HY-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe 69ff5580-dfde-4556-8960-ff3975b593be g.chr2:71283122_71283123insT ENST00000434990.1 - 0 61 GGCACCACCCCCAGGAGTGGTG 0.530 4 7 --- --- --- --- USP17L17 100287327 broad.mit.edu 37 4 9245880 9245880 + Frame_Shift_Del DEL C C - TCGA-HC-A6HY-01A-11D-A31L-08 TCGA-HC-A6HY-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe 69ff5580-dfde-4556-8960-ff3975b593be g.chr4:9245880delC ENST00000511568.1 + 1 276 c.276delC c.(274-276)aafs p.N92fs NM_001256857.1 NP_001243786.1 ubiquitin specific peptidase 17-like family member 17 GCTACGTGAACGCTTCCTTGC 0.572 3 3 --- --- --- --- PKHD1L1 93035 broad.mit.edu 37 8 110464996 110464996 + Frame_Shift_Del DEL G G - TCGA-HC-A6HY-01A-11D-A31L-08 TCGA-HC-A6HY-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe 69ff5580-dfde-4556-8960-ff3975b593be g.chr8:110464996delG ENST00000378402.5 + 43 6661 c.6557delG c.(6556-6558)tgfs p.W2186fs NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 2186 G8 1. immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) AATTTCTCATGGGGGGGAAAA 0.388 HNSCC(38;0.096) 2 4 --- --- --- --- ZFPM1 161882 broad.mit.edu 37 16 88593283 88593283 + Frame_Shift_Del DEL C C - TCGA-HC-A6HY-01A-11D-A31L-08 TCGA-HC-A6HY-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe 69ff5580-dfde-4556-8960-ff3975b593be g.chr16:88593283delC ENST00000319555.3 + 5 786 c.464delC c.(463-465)gcfs p.A155fs RP11-21B21.4_ENST00000563243.1_RNA NM_153813.2 NP_722520.2 Q8IX07 FOG1_HUMAN zinc finger protein, FOG family member 1 155 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm DNA binding|transcription factor binding|zinc ion binding central_nervous_system(1)|ovary(2)|urinary_tract(1) 4 BRCA - Breast invasive adenocarcinoma(80;0.0478) CTGCCCCAGGCCCTGACTGAG 0.677 2 4 --- --- --- --- hsa-mir-6080 0 broad.mit.edu 37 17 62750914 62750914 + RNA DEL T T - TCGA-HC-A6HY-01A-11D-A31L-08 TCGA-HC-A6HY-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe 69ff5580-dfde-4556-8960-ff3975b593be g.chr17:62750914delT ENST00000400873.3 - 0 1841 NR_026899.1 CTGATTATGCttttttttttg 0.433 2 4 --- --- --- ---