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 PROKR1 10887 broad.mit.edu 37 2 68873329 68873329 + Missense_Mutation SNP C C T TCGA-TQ-A7RG-01A-11D-A33T-08 TCGA-TQ-A7RG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7ef8640-7181-4ac4-baa3-549e613bda9c 0403a5cd-541a-466c-a7f4-ee68bfd60a19 g.chr2:68873329C>T ENST00000303786.3 + 2 796 c.376C>T c.(376-378)Cgc>Tgc p.R126C PROKR1_ENST00000394342.2_Missense_Mutation_p.R126C Q8TCW9 PKR1_HUMAN prokineticin receptor 1 126 integral to membrane|plasma membrane neuropeptide Y receptor activity endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 CTATGTGGTGCGCCAGCTCTC 0.592000 21 272 0 0 1 0 0 OR4P4 81300 broad.mit.edu 37 11 55406642 55406642 + Missense_Mutation SNP C C T TCGA-TQ-A7RG-01A-11D-A33T-08 TCGA-TQ-A7RG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7ef8640-7181-4ac4-baa3-549e613bda9c 0403a5cd-541a-466c-a7f4-ee68bfd60a19 g.chr11:55406642C>T ENST00000314612.2 + 1 809 c.809C>T c.(808-810)gCc>gTc p.A270V NM_001004124.1 NP_001004124.1 Q8NGL7 OR4P4_HUMAN olfactory receptor, family 4, subfamily P, member 4 270 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1) 40 AAAGTGTTTGCCCTTTTTTAT 0.403000 18 228 0 0 1 0 0 MFHAS1 9258 broad.mit.edu 37 8 8750064 8750064 + Missense_Mutation SNP G G A TCGA-TQ-A7RG-01A-11D-A33T-08 TCGA-TQ-A7RG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7ef8640-7181-4ac4-baa3-549e613bda9c 0403a5cd-541a-466c-a7f4-ee68bfd60a19 g.chr8:8750064G>A ENST00000276282.6 - 1 1091 c.505C>T c.(505-507)Cgg>Tgg p.R169W NM_004225.2 NP_004216.2 Q9Y4C4 MFHA1_HUMAN malignant fibrous histiocytoma amplified sequence 1 169 endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1) 21 Hepatocellular(245;0.217) COAD - Colon adenocarcinoma(149;0.124) TGCGCCAGCCGGTTAAAGCTG 0.677000 6 24 0 0 1 0 0 ZNF716 441234 broad.mit.edu 37 7 57528833 57528833 + Silent SNP T T C TCGA-TQ-A7RG-01A-11D-A33T-08 TCGA-TQ-A7RG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7ef8640-7181-4ac4-baa3-549e613bda9c 0403a5cd-541a-466c-a7f4-ee68bfd60a19 g.chr7:57528833T>C ENST00000420713.1 + 4 778 c.666T>C c.(664-666)ttT>ttC p.F222F NM_001159279.1 NP_001152751.1 zinc finger protein 716 breast(1)|kidney(1)|lung(20)|ovary(2) 24 GCAAATCCTTTAACTGCTCTT 0.398000 8 38 0 0 1 0 0 PARVG 64098 broad.mit.edu 37 22 44583736 44583736 + Silent SNP G G A TCGA-TQ-A7RG-01A-11D-A33T-08 TCGA-TQ-A7RG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7ef8640-7181-4ac4-baa3-549e613bda9c 0403a5cd-541a-466c-a7f4-ee68bfd60a19 g.chr22:44583736G>A ENST00000422871.1 + 5 649 c.225G>A c.(223-225)ggG>ggA p.G75G PARVG_ENST00000444313.2_Silent_p.G75G|PARVG_ENST00000415224.1_Silent_p.G75G NM_001137605.1 NP_001131077.1 Q9HBI0 PARVG_HUMAN parvin, gamma 75 CH 1. cell-matrix adhesion cytoplasm|cytoskeleton|focal adhesion actin binding endometrium(2)|kidney(1)|large_intestine(4)|lung(10) 17 Ovarian(80;0.024)|all_neural(38;0.0299) TGTTCGACGGGCTCATCCTAC 0.627000 8 102 0 0 1 0 0 JAG2 3714 broad.mit.edu 37 14 105609285 105609285 + Missense_Mutation SNP G G A TCGA-TQ-A7RG-01A-11D-A33T-08 TCGA-TQ-A7RG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7ef8640-7181-4ac4-baa3-549e613bda9c 0403a5cd-541a-466c-a7f4-ee68bfd60a19 g.chr14:105609285G>A ENST00000331782.3 - 26 3867 c.3464C>T c.(3463-3465)aCg>aTg p.T1155M JAG2_ENST00000347004.2_Missense_Mutation_p.T1117M NM_002226.4 NP_002217.3 Q9Y219 JAG2_HUMAN jagged 2 1155 auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection integral to plasma membrane calcium ion binding|growth factor activity|Notch binding breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5) 22 all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272) Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208) cggcggcggcgTGAAGTTCTT 0.721000 35 39 0 0 1 0 0 CACNG3 10368 broad.mit.edu 37 16 24372900 24372900 + Missense_Mutation SNP G G T TCGA-TQ-A7RG-01A-11D-A33T-08 TCGA-TQ-A7RG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7ef8640-7181-4ac4-baa3-549e613bda9c 0403a5cd-541a-466c-a7f4-ee68bfd60a19 g.chr16:24372900G>T ENST00000005284.3 + 4 1866 c.664G>T c.(664-666)Gcc>Tcc p.A222S NM_006539.3 NP_006530.1 O60359 CCG3_HUMAN calcium channel, voltage-dependent, gamma subunit 3 222 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2) 40 GBM - Glioblastoma multiforme(48;0.0809) ATCTACTTTTGCCCGCCTCCC 0.532000 5 173 0.000602214 0.000618273 1 1 0 SEL1L3 23231 broad.mit.edu 37 4 25849364 25849364 + Translation_Start_Site SNP G G A TCGA-TQ-A7RG-01A-11D-A33T-08 TCGA-TQ-A7RG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7ef8640-7181-4ac4-baa3-549e613bda9c 0403a5cd-541a-466c-a7f4-ee68bfd60a19 g.chr4:25849364G>A ENST00000502949.1 - 0 226 SEL1L3_ENST00000399878.3_Silent_p.N95N|SEL1L3_ENST00000513364.1_Intron|SEL1L3_ENST00000264868.5_Silent_p.N60N Q68CR1 SE1L3_HUMAN sel-1 suppressor of lin-12-like 3 (C. elegans) integral to membrane binding breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2) 14 CTTCAGAAACGTTGCGAACGT 0.433000 6 169 0 0 1 0 0 MICB 4277 broad.mit.edu 37 6 31474146 31474146 + Silent SNP G G A TCGA-TQ-A7RG-01A-11D-A33T-08 TCGA-TQ-A7RG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7ef8640-7181-4ac4-baa3-549e613bda9c 0403a5cd-541a-466c-a7f4-ee68bfd60a19 g.chr6:31474146G>A ENST00000252229.6 + 3 631 c.552G>A c.(550-552)caG>caA p.Q184Q MICB_ENST00000538442.1_Silent_p.Q152Q|MICB_ENST00000399150.3_Silent_p.Q141Q NM_005931.3 NP_005922.2 Q29980 MICB_HUMAN MHC class I polypeptide-related sequence B 184 antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid integral to plasma membrane|MHC class I protein complex natural killer cell lectin-like receptor binding NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1) 13 GCGCTATGCAGGCAGACTGCC 0.542000 46 59 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-TQ-A7RG-01A-11D-A33T-08 TCGA-TQ-A7RG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7ef8640-7181-4ac4-baa3-549e613bda9c 0403a5cd-541a-466c-a7f4-ee68bfd60a19 g.chr1:145367739A>G ENST00000342960.5 + 83 10370 c.10335A>G c.(10333-10335)aaA>aaG p.K3445K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3445 p.K3445K(4) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ggaaggggaaaaaaagaaggg 0.413000 5 196 0 0 1 0 0 TULP4 56995 broad.mit.edu 37 6 158900996 158900996 + Missense_Mutation SNP C C T TCGA-TQ-A7RG-01A-11D-A33T-08 TCGA-TQ-A7RG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7ef8640-7181-4ac4-baa3-549e613bda9c 0403a5cd-541a-466c-a7f4-ee68bfd60a19 g.chr6:158900996C>T ENST00000367097.3 + 7 2597 c.1240C>T c.(1240-1242)Ccc>Tcc p.P414S TULP4_ENST00000367094.2_Missense_Mutation_p.P414S NM_020245.4 NP_064630.2 Q9NRJ4 TULP4_HUMAN tubby like protein 4 414 SOCS box. intracellular signal transduction|response to nutrient cytoplasm protein binding|sequence-specific DNA binding transcription factor activity endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171) OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05) TGCCTTCATCCCCACCATCAA 0.637000 38 63 0 0 1 0 0 DPPA5 340168 broad.mit.edu 37 6 74063933 74063933 + Missense_Mutation SNP C C T TCGA-TQ-A7RG-01A-11D-A33T-08 TCGA-TQ-A7RG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7ef8640-7181-4ac4-baa3-549e613bda9c 0403a5cd-541a-466c-a7f4-ee68bfd60a19 g.chr6:74063933C>T ENST00000370370.3 - 1 85 c.16G>A c.(16-18)Gca>Aca p.A6T NM_001025290.2 NP_001020461.1 A6NC42 DPPA5_HUMAN developmental pluripotency associated 5 6 multicellular organismal development cytoplasm RNA binding NS(1)|endometrium(1)|lung(5) 7 TGTCTACGTGCCGGGAGAGTT 0.577000 42 52 0 0 1 0 0 ALS2 57679 broad.mit.edu 37 2 202626336 202626336 + Silent SNP G G A TCGA-TQ-A7RG-01A-11D-A33T-08 TCGA-TQ-A7RG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7ef8640-7181-4ac4-baa3-549e613bda9c 0403a5cd-541a-466c-a7f4-ee68bfd60a19 g.chr2:202626336G>A ENST00000264276.6 - 4 753 c.381C>T c.(379-381)aaC>aaT p.N127N ALS2_ENST00000467448.1_Silent_p.N127N|ALS2_ENST00000496244.1_5'UTR NM_020919.3 NP_065970.2 Q96Q42 ALS2_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 127 cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 72 CATACTGCTGGTTGGCTACTG 0.527000 59 88 0 0 1 0 0 CIR1 9541 broad.mit.edu 37 2 175216364 175216364 + Missense_Mutation SNP C C T TCGA-TQ-A7RG-01A-11D-A33T-08 TCGA-TQ-A7RG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7ef8640-7181-4ac4-baa3-549e613bda9c 0403a5cd-541a-466c-a7f4-ee68bfd60a19 g.chr2:175216364C>T ENST00000342016.3 - 8 666 c.574G>A c.(574-576)Gca>Aca p.A192T CIR1_ENST00000362053.5_Missense_Mutation_p.R201H NM_004882.3 NP_004873.3 Q86X95 CIR1_HUMAN corepressor interacting with RBPJ, 1 192 mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing nuclear speck protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1) 15 GGATCATTTGCGGTCAAGTTT 0.403000 4 247 0 0 1 0 0 NIPBL 25836 broad.mit.edu 37 5 36976456 36976456 + Nonsense_Mutation SNP G G T TCGA-TQ-A7RG-01A-11D-A33T-08 TCGA-TQ-A7RG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7ef8640-7181-4ac4-baa3-549e613bda9c 0403a5cd-541a-466c-a7f4-ee68bfd60a19 g.chr5:36976456G>T ENST00000282516.8 + 9 1946 c.1447G>T c.(1447-1449)Gaa>Taa p.E483* NIPBL_ENST00000448238.2_Nonsense_Mutation_p.E483*|NIPBL_ENST00000504430.1_3'UTR NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 483 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) AATAGAGAGAGAATCAGCTAT 0.363000 17 165 1.33834e-09 1.39259e-09 1 1 0 MRPS31 10240 broad.mit.edu 37 13 41303682 41303682 + Silent SNP C C T TCGA-TQ-A7RG-01A-11D-A33T-08 TCGA-TQ-A7RG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7ef8640-7181-4ac4-baa3-549e613bda9c 0403a5cd-541a-466c-a7f4-ee68bfd60a19 g.chr13:41303682C>T ENST00000323563.6 - 7 1050 c.1014G>A c.(1012-1014)ctG>ctA p.L338L MRPS31_ENST00000498078.1_5'UTR NM_005830.3 NP_005821.2 Q92665 RT31_HUMAN mitochondrial ribosomal protein S31 338 mitochondrion|ribosome protein domain specific binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 13 Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194) all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706) GAAAGCTCTCCAGGTGTTTCT 0.363000 19 112 0 0 1 0 0 ANKH 56172 broad.mit.edu 37 5 14749298 14749298 + Missense_Mutation SNP T T A TCGA-TQ-A7RG-01A-11D-A33T-08 TCGA-TQ-A7RG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7ef8640-7181-4ac4-baa3-549e613bda9c 0403a5cd-541a-466c-a7f4-ee68bfd60a19 g.chr5:14749298T>A ENST00000284268.6 - 6 1135 c.805A>T c.(805-807)Agt>Tgt p.S269C ANKH_ENST00000503939.1_5'UTR|ANKH_ENST00000535119.1_Missense_Mutation_p.S71C NM_054027.4 NP_473368.1 Q9HCJ1 ANKH_HUMAN ANKH inorganic pyrophosphate transport regulator 269 locomotory behavior|regulation of bone mineralization|skeletal system development integral to plasma membrane|outer membrane inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 29 GCTGCAGAACTGCCACCAAGG 0.542000 4 145 0 0 1 0 0 RGS4 5999 broad.mit.edu 37 1 163044271 163044271 + Missense_Mutation SNP C C T TCGA-TQ-A7RG-01A-11D-A33T-08 TCGA-TQ-A7RG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7ef8640-7181-4ac4-baa3-549e613bda9c 0403a5cd-541a-466c-a7f4-ee68bfd60a19 g.chr1:163044271C>T ENST00000421743.2 + 6 990 c.830C>T c.(829-831)cCg>cTg p.P277L RGS4_ENST00000491263.1_3'UTR|RGS4_ENST00000367908.4_3'UTR|RGS4_ENST00000531057.1_Intron|RGS4_ENST00000367906.3_Missense_Mutation_p.P162L|RGS4_ENST00000367909.6_Missense_Mutation_p.P180L|RGS4_ENST00000527809.1_Missense_Mutation_p.P162L NM_001102445.2|NM_001113380.1 NP_001095915.1|NP_001106851.1 P49798 RGS4_HUMAN regulator of G-protein signaling 4 180 inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway plasma membrane calmodulin binding|GTPase activator activity|signal transducer activity p.P180Q(1)|p.P277Q(1) breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2) 21 TTGGTCAACCCGTCCAGCTGT 0.517000 41 318 0 0 1 0 0 CCDC8 83987 broad.mit.edu 37 19 46915066 46915066 + Silent SNP A A G TCGA-TQ-A7RG-01A-11D-A33T-08 TCGA-TQ-A7RG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7ef8640-7181-4ac4-baa3-549e613bda9c 0403a5cd-541a-466c-a7f4-ee68bfd60a19 g.chr19:46915066A>G ENST00000307522.3 - 1 1775 c.1002T>C c.(1000-1002)aaT>aaC p.N334N NM_032040.4 NP_114429.2 Q9H0W5 CCDC8_HUMAN coiled-coil domain containing 8 334 plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421) CTTCCCTCTGATTATCTGCAG 0.597000 5 242 0 0 1 0 0 KIAA0907 22889 broad.mit.edu 37 1 155887393 155887393 + Missense_Mutation SNP T T G TCGA-TQ-A7RG-01A-11D-A33T-08 TCGA-TQ-A7RG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7ef8640-7181-4ac4-baa3-549e613bda9c 0403a5cd-541a-466c-a7f4-ee68bfd60a19 g.chr1:155887393T>G ENST00000368320.3 - 11 1362 c.1337A>C c.(1336-1338)cAg>cCg p.Q446P KIAA0907_ENST00000368321.3_Missense_Mutation_p.Q446P Q7Z7F0 K0907_HUMAN KIAA0907 446 Pro-rich. breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1) 21 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) gggctggggctggggctgggg 0.567000 9 68 0 0 1 0 0 GIF 2694 broad.mit.edu 37 11 59603468 59603468 + Missense_Mutation SNP G G A TCGA-TQ-A7RG-01A-11D-A33T-08 TCGA-TQ-A7RG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7ef8640-7181-4ac4-baa3-549e613bda9c 0403a5cd-541a-466c-a7f4-ee68bfd60a19 g.chr11:59603468G>A ENST00000541311.1 - 7 1045 c.811C>T c.(811-813)Cca>Tca p.P271S GIF_ENST00000257248.2_Missense_Mutation_p.P296S P27352 IF_HUMAN gastric intrinsic factor (vitamin B synthesis) 296 cobalamin metabolic process|cobalamin transport|cobalt ion transport apical plasma membrane|endosome|extracellular space|microvillus cobalamin binding large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 17 GGTAGAGTTGGTTGTACCTCA 0.478000 6 253 0 0 1 0 0 TRIM42 287015 broad.mit.edu 37 3 140406741 140406741 + Missense_Mutation SNP A A G TCGA-TQ-A7RG-01A-11D-A33T-08 TCGA-TQ-A7RG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7ef8640-7181-4ac4-baa3-549e613bda9c 0403a5cd-541a-466c-a7f4-ee68bfd60a19 g.chr3:140406741A>G ENST00000286349.3 + 3 1408 c.1217A>G c.(1216-1218)cAg>cGg p.Q406R NM_152616.4 NP_689829.3 Q8IWZ5 TRI42_HUMAN tripartite motif containing 42 406 intracellular zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GTGTCCAGGCAGAAGGAAATT 0.443000 4 135 0 0 1 0 0 OTX1 5013 broad.mit.edu 37 2 63283169 63283169 + Silent SNP G G A TCGA-TQ-A7RG-01A-11D-A33T-08 TCGA-TQ-A7RG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7ef8640-7181-4ac4-baa3-549e613bda9c 0403a5cd-541a-466c-a7f4-ee68bfd60a19 g.chr2:63283169G>A ENST00000282549.2 + 5 1059 c.783G>A c.(781-783)ccG>ccA p.P261P OTX1_ENST00000366671.3_Silent_p.P261P NM_014562.3 NP_055377.1 P32242 OTX1_HUMAN orthodenticle homeobox 1 261 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Lung NSC(7;0.121)|all_lung(7;0.211) ATCACCACCCGCACCAGCTCA 0.652000 4 249 0 0 1 0 0 L1CAM 3897 broad.mit.edu 37 X 153130847 153130847 + Missense_Mutation SNP G G A TCGA-TQ-A7RG-01A-11D-A33T-08 TCGA-TQ-A7RG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7ef8640-7181-4ac4-baa3-549e613bda9c 0403a5cd-541a-466c-a7f4-ee68bfd60a19 g.chrX:153130847G>A ENST00000370060.1 - 21 2845 c.2656C>T c.(2656-2658)Cgg>Tgg p.R886W L1CAM_ENST00000370055.1_Missense_Mutation_p.R881W|L1CAM_ENST00000361981.3_Missense_Mutation_p.R881W|L1CAM_ENST00000370057.3_Missense_Mutation_p.R886W|L1CAM_ENST00000361699.4_Missense_Mutation_p.R886W|L1CAM_ENST00000543994.1_Missense_Mutation_p.R888W|L1CAM_ENST00000538883.1_Missense_Mutation_p.R888W NM_001278116.1 NP_001265045.1 P32004 L1CAM_HUMAN L1 cell adhesion molecule 886 Fibronectin type-III 3. axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane p.R886W(1) NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CTATAGGGCCGCAAGCCACTG 0.612000 4 152 0 0 1 0 0 RP11-368J21.3 0 broad.mit.edu 37 16 22588087 22588087 + RNA SNP G G C TCGA-TQ-A7RG-01A-11D-A33T-08 TCGA-TQ-A7RG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7ef8640-7181-4ac4-baa3-549e613bda9c 0403a5cd-541a-466c-a7f4-ee68bfd60a19 g.chr16:22588087G>C ENST00000550753.1 + 0 2562 NR_003676.2 GTGGGACACCGTTCCCTGGAT 0.522000 3 62 0 0 1 0 0 DPY19L2P1 0 broad.mit.edu 37 7 35131480 35131480 + RNA SNP A A T TCGA-TQ-A7RG-01A-11D-A33T-08 TCGA-TQ-A7RG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7ef8640-7181-4ac4-baa3-549e613bda9c 0403a5cd-541a-466c-a7f4-ee68bfd60a19 g.chr7:35131480A>T ENST00000436258.1 - 0 1889 ATCTTCGTAAAGTGGATGATT 0.423000 4 130 0 0 1 0 0 TBC1D10A 83874 broad.mit.edu 37 22 30688804 30688804 + Missense_Mutation SNP G G C TCGA-TQ-A7RG-01A-11D-A33T-08 TCGA-TQ-A7RG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7ef8640-7181-4ac4-baa3-549e613bda9c 0403a5cd-541a-466c-a7f4-ee68bfd60a19 g.chr22:30688804G>C ENST00000215790.7 - 9 1251 c.1087C>G c.(1087-1089)Cgc>Ggc p.R363G RP1-130H16.18_ENST00000447976.1_Intron|TBC1D10A_ENST00000403362.1_Missense_Mutation_p.R275G|TBC1D10A_ENST00000403477.3_Missense_Mutation_p.R370G NM_031937.2 NP_114143.1 Q9BXI6 TB10A_HUMAN TBC1 domain family, member 10A 363 intracellular|microvillus guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity p.R363S(1) cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 AGGTGTTCGCGCTCAATCTGG 0.637000 37 55 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-TQ-A7RG-01A-11D-A33T-08 TCGA-TQ-A7RG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7ef8640-7181-4ac4-baa3-549e613bda9c 0403a5cd-541a-466c-a7f4-ee68bfd60a19 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_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 71 111 0 0 1 0 0 KBTBD4 55709 broad.mit.edu 37 11 47597155 47597155 + Missense_Mutation SNP G G A TCGA-TQ-A7RG-01A-11D-A33T-08 TCGA-TQ-A7RG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7ef8640-7181-4ac4-baa3-549e613bda9c 0403a5cd-541a-466c-a7f4-ee68bfd60a19 g.chr11:47597155G>A ENST00000533290.1 - 2 1475 c.761C>T c.(760-762)aCa>aTa p.T254I NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000525720.1_Missense_Mutation_p.T278I|KBTBD4_ENST00000526005.1_Missense_Mutation_p.T229I|KBTBD4_ENST00000395288.2_Missense_Mutation_p.T229I|KBTBD4_ENST00000430070.2_Missense_Mutation_p.T245I Q9NVX7 KBTB4_HUMAN kelch repeat and BTB (POZ) domain containing 4 229 A -> G (in Ref. 1; BAA91616). NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 24 CTTCAAGCTTGTCCTGAGTGA 0.403000 5 145 0 0 1 0 0 GLRX 2745 broad.mit.edu 37 5 95158225 95158225 + Missense_Mutation SNP T T C rs150319338 TCGA-TQ-A7RG-01A-11D-A33T-08 TCGA-TQ-A7RG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7ef8640-7181-4ac4-baa3-549e613bda9c 0403a5cd-541a-466c-a7f4-ee68bfd60a19 g.chr5:95158225T>C ENST00000379979.4 - 1 193 c.142A>G c.(142-144)Atc>Gtc p.I48V GLRX_ENST00000512469.2_Missense_Mutation_p.I48V|GLRX_ENST00000508780.1_Missense_Mutation_p.I48V|GLRX_ENST00000237858.6_Missense_Mutation_p.I48V|GLRX_ENST00000505427.1_Missense_Mutation_p.I48V NM_002064.2 NP_002055.1 P35754 GLRX1_HUMAN glutaredoxin (thioltransferase) 48 Glutaredoxin. cell redox homeostasis|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|transport cytosol electron carrier activity|glutathione disulfide oxidoreductase activity|protein disulfide oxidoreductase activity|protein N-terminus binding endometrium(3)|large_intestine(1)|lung(1) 5 all_cancers(142;3.38e-06)|all_epithelial(76;5.66e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198) all cancers(79;2.62e-16) Glutathione(DB00143) GTGGCTGTGATATCGACAAAT 0.498000 6 301 0 0 1 0 0 ARAP3 64411 broad.mit.edu 37 5 141051740 141051740 + Missense_Mutation SNP G G A TCGA-TQ-A7RG-01A-11D-A33T-08 TCGA-TQ-A7RG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7ef8640-7181-4ac4-baa3-549e613bda9c 0403a5cd-541a-466c-a7f4-ee68bfd60a19 g.chr5:141051740G>A ENST00000239440.4 - 10 1579 c.1514C>T c.(1513-1515)gCg>gTg p.A505V ARAP3_ENST00000508305.1_Missense_Mutation_p.A427V|ARAP3_ENST00000513878.1_Missense_Mutation_p.A167V NM_022481.5 NP_071926.4 Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 505 Arf-GAP. cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1) 53 CCCACAGTCCGCACACTGCCG 0.612000 5 458 0 0 1 0 0 ZFP64 55734 broad.mit.edu 37 20 50769656 50769656 + Missense_Mutation SNP G G A TCGA-TQ-A7RG-01A-11D-A33T-08 TCGA-TQ-A7RG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7ef8640-7181-4ac4-baa3-549e613bda9c 0403a5cd-541a-466c-a7f4-ee68bfd60a19 g.chr20:50769656G>A ENST00000216923.4 - 6 1424 c.1075C>T c.(1075-1077)Cgc>Tgc p.R359C ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000371515.4_Missense_Mutation_p.R357C|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000346617.4_Missense_Mutation_p.R305C NM_018197.2|NM_199426.1 NP_060667.2|NP_955458.1 Q9NPA5 ZF64A_HUMAN ZFP64 zinc finger protein 359 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 33 TCGTGGATGCGCAGGGCGGCC 0.597000 4 215 0 0 1 0 0 GABBR2 9568 broad.mit.edu 37 9 101068571 101068571 + Silent SNP G G A TCGA-TQ-A7RG-01A-11D-A33T-08 TCGA-TQ-A7RG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7ef8640-7181-4ac4-baa3-549e613bda9c 0403a5cd-541a-466c-a7f4-ee68bfd60a19 g.chr9:101068571G>A ENST00000259455.2 - 15 2520 c.2061C>T c.(2059-2061)aaC>aaT p.N687N NM_005458.7 NP_005449.5 O75899 GABR2_HUMAN gamma-aminobutyric acid (GABA) B receptor, 2 687 negative regulation of adenylate cyclase activity|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity NOTCH1_ENST00000277541/GABBR2(2) breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 49 Acute lymphoblastic leukemia(62;0.0527) Baclofen(DB00181) ACTTGCTGTCGTTGAGTGCGG 0.547000 24 38 0 0 1 0 0 MDGA2 161357 broad.mit.edu 37 14 47315042 47315042 + Missense_Mutation SNP T T C TCGA-TQ-A7RG-01A-11D-A33T-08 TCGA-TQ-A7RG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7ef8640-7181-4ac4-baa3-549e613bda9c 0403a5cd-541a-466c-a7f4-ee68bfd60a19 g.chr14:47315042T>C ENST00000426342.1 - 16 2768 c.2022A>G c.(2020-2022)atA>atG p.I674M MDGA2_ENST00000439988.2_Missense_Mutation_p.I903M|MDGA2_ENST00000399222.3_Missense_Mutation_p.I105M|MDGA2_ENST00000399232.2_Missense_Mutation_p.I972M|MDGA2_ENST00000357362.3_Missense_Mutation_p.I674M NM_182830.3 NP_878250.2 Q7Z553 MDGA2_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 2 903 spinal cord motor neuron differentiation anchored to membrane|plasma membrane breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5) 76 TGTCACCTTCTATTCCAGGAC 0.363000 19 150 0 0 1 0 0 KLHDC7B 113730 broad.mit.edu 37 22 50988099 50988099 + Missense_Mutation SNP C C T TCGA-TQ-A7RG-01A-11D-A33T-08 TCGA-TQ-A7RG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7ef8640-7181-4ac4-baa3-549e613bda9c 0403a5cd-541a-466c-a7f4-ee68bfd60a19 g.chr22:50988099C>T ENST00000395676.2 + 1 1638 c.1504C>T c.(1504-1506)Cgg>Tgg p.R502W NM_138433.3 NP_612442.2 Q96G42 KLD7B_HUMAN kelch domain containing 7B 502 central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 14 all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CGACCTGCTGCGGGGCGTGGG 0.697000 14 151 0 0 1 0 0 HERC2 8924 broad.mit.edu 37 15 28375699 28375699 + Silent SNP G G A rs61756151 byFrequency TCGA-TQ-A7RG-01A-11D-A33T-08 TCGA-TQ-A7RG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7ef8640-7181-4ac4-baa3-549e613bda9c 0403a5cd-541a-466c-a7f4-ee68bfd60a19 g.chr15:28375699G>A ENST00000261609.7 - 82 12720 c.12612C>T c.(12610-12612)tgC>tgT p.C4204C NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 4204 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) ACTGGGATCCGCATTCCACTT 0.418000 6 492 0 0 1 0 0 NHLRC2 374354 broad.mit.edu 37 10 115639379 115639379 + Silent SNP T T C TCGA-TQ-A7RG-01A-11D-A33T-08 TCGA-TQ-A7RG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7ef8640-7181-4ac4-baa3-549e613bda9c 0403a5cd-541a-466c-a7f4-ee68bfd60a19 g.chr10:115639379T>C ENST00000369301.3 + 4 1046 c.834T>C c.(832-834)ttT>ttC p.F278F NM_198514.3 NP_940916.2 Q8NBF2 NHLC2_HUMAN NHL repeat containing 2 278 cell redox homeostasis breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 15 Epithelial(162;0.017)|all cancers(201;0.0187) AATCAACTTTTAATTCTCCAC 0.308000 14 207 0 0 1 0 0 SHROOM3 57619 broad.mit.edu 37 4 77692035 77692035 + Missense_Mutation SNP C C T TCGA-TQ-A7RG-01A-11D-A33T-08 TCGA-TQ-A7RG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7ef8640-7181-4ac4-baa3-549e613bda9c 0403a5cd-541a-466c-a7f4-ee68bfd60a19 g.chr4:77692035C>T ENST00000296043.6 + 10 6559 c.5606C>T c.(5605-5607)gCc>gTc p.A1869V RP11-359D14.3_ENST00000449007.1_RNA NM_020859.3 NP_065910.3 Q8TF72 SHRM3_HUMAN shroom family member 3 1869 ASD2. apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 60 Lung(101;0.0903) GGTGAAGATGCCAGTAATGAA 0.517000 4 221 0 0 1 0 0 C11orf84 144097 broad.mit.edu 37 11 63586445 63586445 + Missense_Mutation SNP G G A TCGA-TQ-A7RG-01A-11D-A33T-08 TCGA-TQ-A7RG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7ef8640-7181-4ac4-baa3-549e613bda9c 0403a5cd-541a-466c-a7f4-ee68bfd60a19 g.chr11:63586445G>A ENST00000294244.4 + 5 1204 c.905G>A c.(904-906)gGc>gAc p.G302D NM_138471.1 NP_612480.1 Q9BUA3 CK084_HUMAN chromosome 11 open reading frame 84 302 endometrium(3)|kidney(1)|lung(3)|skin(1) 8 GCAGAAGGAGGCCTTCCCCGG 0.662000 4 111 0 0 1 0 0 CHD6 0 broad.mit.edu 37 20 40049627 40049627 + Missense_Mutation SNP C C G TCGA-TQ-A7RG-01A-11D-A33T-08 TCGA-TQ-A7RG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7ef8640-7181-4ac4-baa3-549e613bda9c 0403a5cd-541a-466c-a7f4-ee68bfd60a19 g.chr20:40049627C>G ENST00000373233.3 - 31 5825 c.5648G>C c.(5647-5649)gGc>gCc p.G1883A NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 1883 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) TTCCCCCATGCCTACTGCCAT 0.453000 21 156 0 0 1 0 0 FGD5 152273 broad.mit.edu 37 3 14949183 14949183 + Missense_Mutation SNP G G A TCGA-TQ-A7RG-01A-11D-A33T-08 TCGA-TQ-A7RG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7ef8640-7181-4ac4-baa3-549e613bda9c 0403a5cd-541a-466c-a7f4-ee68bfd60a19 g.chr3:14949183G>A ENST00000285046.5 + 10 3411 c.3301G>A c.(3301-3303)Gtc>Atc p.V1101I FGD5_ENST00000476851.1_3'UTR|FGD5_ENST00000543601.1_Missense_Mutation_p.V860I NM_152536.3 NP_689749.3 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 1101 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1) 54 TGAGCACAGCGTCCGGGGCCA 0.627000 18 98 0 0 1 0 0 TSHZ3 57616 broad.mit.edu 37 19 31769127 31769127 + Missense_Mutation SNP T T A TCGA-TQ-A7RG-01A-11D-A33T-08 TCGA-TQ-A7RG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7ef8640-7181-4ac4-baa3-549e613bda9c 0403a5cd-541a-466c-a7f4-ee68bfd60a19 g.chr19:31769127T>A ENST00000240587.4 - 2 1899 c.1572A>T c.(1570-1572)aaA>aaT p.K524N NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 524 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) TTTCCAAGGATTTGAGGATAT 0.507000 75 153 0 0 1 0 0 HNRNPKP3 0 broad.mit.edu 37 11 43283724 43283724 + RNA SNP G G A TCGA-TQ-A7RG-01A-11D-A33T-08 TCGA-TQ-A7RG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7ef8640-7181-4ac4-baa3-549e613bda9c 0403a5cd-541a-466c-a7f4-ee68bfd60a19 g.chr11:43283724G>A ENST00000511537.1 - 0 1211 NR_033868.1 CTGGTCCTATGTTCCTATAAT 0.388000 7 27 0 0 1 0 0 IGHG2 0 broad.mit.edu 37 14 106110437 106110437 + RNA SNP C C T TCGA-TQ-A7RG-01A-11D-A33T-08 TCGA-TQ-A7RG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7ef8640-7181-4ac4-baa3-549e613bda9c 0403a5cd-541a-466c-a7f4-ee68bfd60a19 g.chr14:106110437C>T ENST00000390545.2 - 0 298 ACAACATTTGCGCTCTGCAGA 0.607000 4 352 0 0 1 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78211648 78211648 + RNA SNP A A G TCGA-TQ-A7RG-01A-11D-A33T-08 TCGA-TQ-A7RG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7ef8640-7181-4ac4-baa3-549e613bda9c 0403a5cd-541a-466c-a7f4-ee68bfd60a19 g.chr15:78211648A>G ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA CGCCAGGGATAGGGGCTCAGC 0.522000 4 144 0 0 1 0 0 BMP6 654 broad.mit.edu 37 6 7845400 7845400 + Missense_Mutation SNP G G A TCGA-TQ-A7RG-01A-11D-A33T-08 TCGA-TQ-A7RG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7ef8640-7181-4ac4-baa3-549e613bda9c 0403a5cd-541a-466c-a7f4-ee68bfd60a19 g.chr6:7845400G>A ENST00000283147.6 + 2 851 c.692G>A c.(691-693)cGt>cAt p.R231H NM_001718.4 NP_001709.1 P22004 BMP6_HUMAN bone morphogenetic protein 6 231 BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction extracellular space BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity p.R231H(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1) 23 Ovarian(93;0.0721) TTCTCCCCTCGTCAGCGACAC 0.468000 20 187 0 0 1 0 0 PHF20 51230 broad.mit.edu 37 20 34487400 34487400 + Missense_Mutation SNP G G A TCGA-TQ-A7RG-01A-11D-A33T-08 TCGA-TQ-A7RG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7ef8640-7181-4ac4-baa3-549e613bda9c 0403a5cd-541a-466c-a7f4-ee68bfd60a19 g.chr20:34487400G>A ENST00000374012.3 + 10 1520 c.1391G>A c.(1390-1392)cGc>cAc p.R464H PHF20_ENST00000439301.1_3'UTR|PHF20_ENST00000481202.1_3'UTR Q9BVI0 PHF20_HUMAN PHD finger protein 20 464 regulation of transcription, DNA-dependent|transcription, DNA-dependent MLL1 complex DNA binding|zinc ion binding breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Breast(12;0.00631)|all_lung(11;0.0145) AAATTTTTCCGCAAAGCCAAA 0.428000 4 120 0 0 1 0 0 CPNE3 8895 broad.mit.edu 37 8 87568561 87568561 + Nonsense_Mutation SNP C C T TCGA-TQ-A7RG-01A-11D-A33T-08 TCGA-TQ-A7RG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7ef8640-7181-4ac4-baa3-549e613bda9c 0403a5cd-541a-466c-a7f4-ee68bfd60a19 g.chr8:87568561C>T ENST00000521271.1 + 16 1648 c.1486C>T c.(1486-1488)Cag>Tag p.Q496* CPNE3_ENST00000198765.4_Nonsense_Mutation_p.Q496* NM_003909.3 NP_003900.1 O75131 CPNE3_HUMAN copine III 496 VWFA. lipid metabolic process|vesicle-mediated transport cytosol calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 23 CAGACAGTTCCAGAATGTGAG 0.502000 13 102 0 0 1 0 0 LIN7C 55327 broad.mit.edu 37 11 27520303 27520303 + Missense_Mutation SNP C C T TCGA-TQ-A7RG-01A-11D-A33T-08 TCGA-TQ-A7RG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7ef8640-7181-4ac4-baa3-549e613bda9c 0403a5cd-541a-466c-a7f4-ee68bfd60a19 g.chr11:27520303C>T ENST00000278193.2 - 5 507 c.487G>A c.(487-489)Gca>Aca p.A163T LIN7C_ENST00000524596.1_Missense_Mutation_p.A139T NM_018362.3 NP_060832.1 Q9NUP9 LIN7C_HUMAN lin-7 homolog C (C. elegans) 163 PDZ. exocytosis|protein transport basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction endometrium(2)|lung(2)|upper_aerodigestive_tract(1) 5 TTTCCTTGTGCGGCTTTCAGC 0.388000 6 213 0 0 1 0 0 TRIOBP 11078 broad.mit.edu 37 22 38119859 38119859 + Silent SNP C C T rs66505048 TCGA-TQ-A7RG-01A-11D-A33T-08 TCGA-TQ-A7RG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7ef8640-7181-4ac4-baa3-549e613bda9c 0403a5cd-541a-466c-a7f4-ee68bfd60a19 g.chr22:38119859C>T ENST00000406386.3 + 7 1551 c.1296C>T c.(1294-1296)tgC>tgT p.C432C RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 432 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding p.C432C(6) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) GAACATCCTGCGCCCAGCGGG 0.582000 4 191 0 0 1 0 0 DHRS4 10901 broad.mit.edu 37 14 24424420 24424420 + Splice_Site SNP C C T TCGA-TQ-A7RG-01A-11D-A33T-08 TCGA-TQ-A7RG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7ef8640-7181-4ac4-baa3-549e613bda9c 0403a5cd-541a-466c-a7f4-ee68bfd60a19 g.chr14:24424420C>T ENST00000313250.5 + 2 508 c.306_splice c.e2+1 p.T102_splice DHRS4_ENST00000397073.2_Splice_Site_p.T84_splice|DHRS4_ENST00000559632.1_Splice_Site_p.T102_splice|DHRS4_ENST00000308178.8_Splice_Site_p.T84_splice|DHRS4_ENST00000558581.1_Splice_Site_p.T102_splice|DHRS4_ENST00000558263.1_Splice_Site_p.T102_splice|DHRS4_ENST00000397074.3_Splice_Site_p.T102_splice|DHRS4_ENST00000543741.2_Splice_Site_p.T102_splice|DHRS4_ENST00000397075.3_Splice_Site_p.T102_splice|DHRS4_ENST00000382761.3_Splice_Site_p.T84_splice|DHRS4_ENST00000421831.1_Splice_Site_p.T84_splice NM_021004.2 NP_066284.2 Q9BTZ2 DHRS4_HUMAN dehydrogenase/reductase (SDR family) member 4 102 T -> M (in Ref. 1; AAD02292). mitochondrion|nuclear membrane|peroxisome binding|carbonyl reductase (NADPH) activity p.T102M(4) central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 GBM - Glioblastoma multiforme(265;0.00962) Vitamin A(DB00162) CTGGTGGCCACGGTGAGCTGC 0.652000 4 52 0 0 1 0 0 STAB1 23166 broad.mit.edu 37 3 52538884 52538884 + Nonsense_Mutation SNP C C T TCGA-TQ-A7RG-01A-11D-A33T-08 TCGA-TQ-A7RG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7ef8640-7181-4ac4-baa3-549e613bda9c 0403a5cd-541a-466c-a7f4-ee68bfd60a19 g.chr3:52538884C>T ENST00000321725.6 + 12 1445 c.1369C>T c.(1369-1371)Caa>Taa p.Q457* NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 457 FAS1 1. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) CACCTTTAACCAATTCACGGT 0.622000 45 56 0 0 1 0 0 KHNYN 23351 broad.mit.edu 37 14 24901559 24901559 + Silent SNP G G A TCGA-TQ-A7RG-01A-11D-A33T-08 TCGA-TQ-A7RG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7ef8640-7181-4ac4-baa3-549e613bda9c 0403a5cd-541a-466c-a7f4-ee68bfd60a19 g.chr14:24901559G>A ENST00000251343.5 + 3 1231 c.1092G>A c.(1090-1092)ccG>ccA p.P364P KHNYN_ENST00000556842.1_Silent_p.P364P|KHNYN_ENST00000553935.1_Silent_p.P364P O15037 KHNYN_HUMAN KH and NYN domain containing 364 p.P364P(1) kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3) 24 CACCTGCACCGGAACCCCCAT 0.697000 OREG0022627 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 85 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14542654 14542654 + Silent SNP C C A TCGA-TQ-A7RG-01A-11D-A33T-08 TCGA-TQ-A7RG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7ef8640-7181-4ac4-baa3-549e613bda9c 0403a5cd-541a-466c-a7f4-ee68bfd60a19 g.chr18:14542654C>A ENST00000358970.5 - 1 491 c.492G>T c.(490-492)acG>acT p.T164T POTEC_ENST00000389891.4_5'UTR NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 164 p.T164T(2) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 TGTTCATGTCCGTGTCCCTGA 0.592000 4 315 0.00909568 0.00921536 1 1 0 NLRC5 84166 broad.mit.edu 37 16 57110788 57110788 + Silent SNP G G A TCGA-TQ-A7RG-01A-11D-A33T-08 TCGA-TQ-A7RG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7ef8640-7181-4ac4-baa3-549e613bda9c 0403a5cd-541a-466c-a7f4-ee68bfd60a19 g.chr16:57110788G>A ENST00000262510.6 + 40 5034 c.4809G>A c.(4807-4809)agG>agA p.R1603R NLRC5_ENST00000308149.7_Silent_p.R1574R|NLRC5_ENST00000539144.1_Silent_p.R1574R|NLRC5_ENST00000436936.1_3'UTR NM_032206.4 NP_115582.4 Q86WI3 NLRC5_HUMAN NLR family, CARD domain containing 5 1603 defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) AGGCTCTCAGGGCTGCCACCA 0.552000 46 57 0 0 1 0 0 PCDHA1 0 broad.mit.edu 37 5 140166994 140166994 + Silent SNP C C T TCGA-TQ-A7RG-01A-11D-A33T-08 TCGA-TQ-A7RG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7ef8640-7181-4ac4-baa3-549e613bda9c 0403a5cd-541a-466c-a7f4-ee68bfd60a19 g.chr5:140166994C>T ENST00000504120.2 + 1 1119 c.1119C>T c.(1117-1119)acC>acT p.T373T PCDHA1_ENST00000394633.3_Silent_p.T373T|PCDHA1_ENST00000378133.3_Silent_p.T373T NM_018900.2 NP_061723.1 breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3) 70 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCCTCATCACCGTGTCTGACC 0.527000 32 157 0 0 1 0 0 ACBD5 91452 broad.mit.edu 37 10 27529418 27529418 + Missense_Mutation SNP A A C TCGA-TQ-A7RG-01A-11D-A33T-08 TCGA-TQ-A7RG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7ef8640-7181-4ac4-baa3-549e613bda9c 0403a5cd-541a-466c-a7f4-ee68bfd60a19 g.chr10:27529418A>C ENST00000375888.1 - 1 69 c.5T>G c.(4-6)tTc>tGc p.F2C ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000396271.3_Intron|ACBD5_ENST00000375897.3_5'UTR|ACBD5_ENST00000375901.1_Intron|ACBD5_ENST00000375905.4_Intron Q5T8D3 ACBD5_HUMAN acyl-CoA binding domain containing 5 2 transport integral to membrane|peroxisomal membrane fatty-acyl-CoA binding breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1) 13 ATGAAACTGGAACATGGAGCG 0.632000 9 13 0 0 1 0 0 SLC13A5 284111 broad.mit.edu 37 17 6599239 6599239 + Silent SNP G G A rs148018915 TCGA-TQ-A7RG-01A-11D-A33T-08 TCGA-TQ-A7RG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7ef8640-7181-4ac4-baa3-549e613bda9c 0403a5cd-541a-466c-a7f4-ee68bfd60a19 g.chr17:6599239G>A ENST00000433363.2 - 7 1094 c.861C>T c.(859-861)tgC>tgT p.C287C SLC13A5_ENST00000573648.1_Silent_p.C287C|SLC13A5_ENST00000293800.6_Silent_p.C270C|SLC13A5_ENST00000381074.4_Silent_p.C244C NM_177550.3 NP_808218.1 Q86YT5 S13A5_HUMAN solute carrier family 13 (sodium-dependent citrate transporter), member 5 287 integral to membrane citrate transmembrane transporter activity breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1) 26 TCTCTAGCCCGCAGCCCCAGG 0.547000 4 191 0 0 1 0 0 KDELC2 143888 broad.mit.edu 37 11 108352771 108352771 + Missense_Mutation SNP C C G TCGA-TQ-A7RG-01A-11D-A33T-08 TCGA-TQ-A7RG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7ef8640-7181-4ac4-baa3-549e613bda9c 0403a5cd-541a-466c-a7f4-ee68bfd60a19 g.chr11:108352771C>G ENST00000434945.2 - 3 997 c.695G>C c.(694-696)gGt>gCt p.G232A KDELC2_ENST00000323468.5_Missense_Mutation_p.G288A|KDELC2_ENST00000532730.1_Intron|KDELC2_ENST00000375648.1_Missense_Mutation_p.G232A Q7Z4H8 KDEL2_HUMAN KDEL (Lys-Asp-Glu-Leu) containing 2 288 endoplasmic reticulum lumen breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 13 all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14) ATTTGTAACACCCCGCATGGC 0.438000 40 200 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100349878 100349878 + RNA SNP C C T TCGA-TQ-A7RG-01A-11D-A33T-08 TCGA-TQ-A7RG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7ef8640-7181-4ac4-baa3-549e613bda9c 0403a5cd-541a-466c-a7f4-ee68bfd60a19 g.chr7:100349878C>T ENST00000542585.1 + 0 2298 ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane p.P717L(2) NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) CCAGAAAAACCCACCATCCCC 0.507000 5 240 0 0 1 0 0 SLC3A2 6520 broad.mit.edu 37 11 62623842 62623842 + Missense_Mutation SNP G G A TCGA-TQ-A7RG-01A-11D-A33T-08 TCGA-TQ-A7RG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7ef8640-7181-4ac4-baa3-549e613bda9c 0403a5cd-541a-466c-a7f4-ee68bfd60a19 g.chr11:62623842G>A ENST00000377892.1 + 1 325 c.101G>A c.(100-102)gGg>gAg p.G34E SLC3A2_ENST00000377891.2_Missense_Mutation_p.G34E|SLC3A2_ENST00000535296.1_Missense_Mutation_p.G34E|SLC3A2_ENST00000377890.2_Missense_Mutation_p.G34E|SLC3A2_ENST00000377889.2_Missense_Mutation_p.G34E P08195 4F2_HUMAN solute carrier family 3 (amino acid transporter heavy chain), member 2 34 blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport apical plasma membrane|cell surface|integral to membrane|melanosome calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2) 22 CTCAGCGCGGGGGACGACTCA 0.607000 5 131 0 0 1 0 0 KAZN 23254 broad.mit.edu 37 1 15382609 15382610 + Frame_Shift_Ins INS - - G TCGA-TQ-A7RG-01A-11D-A33T-08 TCGA-TQ-A7RG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7ef8640-7181-4ac4-baa3-549e613bda9c 0403a5cd-541a-466c-a7f4-ee68bfd60a19 g.chr1:15382609_15382610insG ENST00000376030.2 + 5 1043_1044 c.749_750insG c.(748-750)cacfs p.H250fs KAZN_ENST00000503743.1_Frame_Shift_Ins_p.H250fs|KAZN_ENST00000400797.3_Frame_Shift_Ins_p.H156fs|KAZN_ENST00000361144.5_Frame_Shift_Ins_p.H244fs|KAZN_ENST00000422387.2_Frame_Shift_Ins_p.H250fs|KAZN_ENST00000400798.2_Frame_Shift_Ins_p.H156fs NM_201628.2 NP_963922.2 Q674X7 KAZRN_HUMAN kazrin, periplakin interacting protein 250 Interaction with PPL. keratinization cornified envelope|cytoplasm|desmosome|nucleus central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2) 25 TTAGCTACGCTGACCAAGGACG 0.614 23 58 --- --- --- --- ZBTB18 10472 broad.mit.edu 37 1 244217137 244217138 + Frame_Shift_Ins INS - - A TCGA-TQ-A7RG-01A-11D-A33T-08 TCGA-TQ-A7RG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7ef8640-7181-4ac4-baa3-549e613bda9c 0403a5cd-541a-466c-a7f4-ee68bfd60a19 g.chr1:244217137_244217138insA ENST00000358704.4 + 2 210_211 c.61_62insA c.(61-63)gtgfs p.V21fs NM_001278196.1|NM_006352.4|NM_205768.2 NP_001265125.1|NP_006343.2|NP_991331.1 zinc finger and BTB domain containing 18 ACATTTGCTACAGTGTCTGAGC 0.505 35 75 --- --- --- --- RP11-390F4.6 0 broad.mit.edu 37 9 6663836 6663839 + RNA DEL AAAC AAAC - TCGA-TQ-A7RG-01A-11D-A33T-08 TCGA-TQ-A7RG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7ef8640-7181-4ac4-baa3-549e613bda9c 0403a5cd-541a-466c-a7f4-ee68bfd60a19 g.chr9:6663836_6663839delAAAC ENST00000413145.1 + 0 130 TCCTATTTGTaaacaaacaaacaa 0.417 2 4 --- --- --- --- FAM189A2 9413 broad.mit.edu 37 9 72003231 72003231 + Frame_Shift_Del DEL G G - TCGA-TQ-A7RG-01A-11D-A33T-08 TCGA-TQ-A7RG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7ef8640-7181-4ac4-baa3-549e613bda9c 0403a5cd-541a-466c-a7f4-ee68bfd60a19 g.chr9:72003231delG ENST00000257515.8 + 10 1434 c.1014delG c.(1012-1014)gtfs p.V338fs FAM189A2_ENST00000377216.3_Frame_Shift_Del_p.V125fs|FAM189A2_ENST00000469179.1_3'UTR|FAM189A2_ENST00000303068.7_Frame_Shift_Del_p.V173fs|FAM189A2_ENST00000455972.1_Frame_Shift_Del_p.V338fs NM_004816.3 NP_004807.3 Q15884 F1892_HUMAN family with sequence similarity 189, member A2 338 integral to membrane endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 12 AGCTGCTGGTGGCGAGGTTCC 0.483 11 172 --- --- --- --- OR4C5 79346 broad.mit.edu 37 11 48387684 48387684 + Frame_Shift_Del DEL T T - rs67755516 TCGA-TQ-A7RG-01A-11D-A33T-08 TCGA-TQ-A7RG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7ef8640-7181-4ac4-baa3-549e613bda9c 0403a5cd-541a-466c-a7f4-ee68bfd60a19 g.chr11:48387684delT ENST00000319813.3 - 1 333 c.334delA c.(334-336)ctfs p.T112fs olfactory receptor, family 4, subfamily C, member 5 AAGGAAATAGTTTTCTTTTCA 0.433 2 4 --- --- --- --- RP11-273B20.3 0 broad.mit.edu 37 12 7338794 7338794 + RNA DEL G G - rs34548221 TCGA-TQ-A7RG-01A-11D-A33T-08 TCGA-TQ-A7RG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7ef8640-7181-4ac4-baa3-549e613bda9c 0403a5cd-541a-466c-a7f4-ee68bfd60a19 g.chr12:7338794delG ENST00000545794.1 - 0 279 RP11-273B20.3_ENST00000543061.1_RNA cctgttgagaggggggactga 0.502 3 3 --- --- --- --- LINC00511 0 broad.mit.edu 37 17 70623820 70623821 + RNA INS - - A TCGA-TQ-A7RG-01A-11D-A33T-08 TCGA-TQ-A7RG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7ef8640-7181-4ac4-baa3-549e613bda9c 0403a5cd-541a-466c-a7f4-ee68bfd60a19 g.chr17:70623820_70623821insA ENST00000581549.1 - 0 206 NR_033876.1 aaaactgcctgaaaaaaaaaga 0.426 2 4 --- --- --- --- TNFSF9 8744 broad.mit.edu 37 19 6531149 6531151 + In_Frame_Del DEL GCT GCT - TCGA-TQ-A7RG-01A-11D-A33T-08 TCGA-TQ-A7RG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7ef8640-7181-4ac4-baa3-549e613bda9c 0403a5cd-541a-466c-a7f4-ee68bfd60a19 g.chr19:6531149_6531151delGCT ENST00000245817.3 + 1 140_142 c.102_104delGCT c.(100-105)ggg>gg p.GL34del NM_003811.3 NP_003802.1 P41273 TNFL9_HUMAN tumor necrosis factor (ligand) superfamily, member 9 34 apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction extracellular space|integral to membrane cytokine activity|tumor necrosis factor receptor binding central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1) 5 TGGTCGCGGGgctgctgctgctg 0.768 7 116 --- --- --- --- CD99L2 83692 broad.mit.edu 37 X 149937526 149937528 + In_Frame_Del DEL GGC GGC - rs7877654 byFrequency TCGA-TQ-A7RG-01A-11D-A33T-08 TCGA-TQ-A7RG-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7ef8640-7181-4ac4-baa3-549e613bda9c 0403a5cd-541a-466c-a7f4-ee68bfd60a19 g.chrX:149937526_149937528delGGC ENST00000370377.3 - 11 885_887 c.768_770delGCC c.(766-771)ccc>cc p.PP256del CD99L2_ENST00000355149.3_In_Frame_Del_p.PP184del|CD99L2_ENST00000466436.1_In_Frame_Del_p.PP207del|CD99L2_ENST00000437787.2_In_Frame_Del_p.PP183del|CD99L2_ENST00000346693.4_5'UTR NM_001242614.1|NM_031462.3 NP_001229543.1|NP_113650.2 Q8TCZ2 C99L2_HUMAN CD99 molecule-like 2 256 Poly-Pro. cell adhesion cell junction|integral to membrane endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) GGCTGGTTCGGGCGGCGGCGGCG 0.611 7 231 --- --- --- ---