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 RP11-146E13.4 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A A G TCGA-2A-AAYU-01A-11D-A41K-08 TCGA-2A-AAYU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3333fa05-d0eb-46bb-91af-2492f5b84e23 1695b0a1-b764-4797-83d5-4fcfed8fb4a7 g.chr14:19857036A>G ENST00000548109.1 + 0 72 CTGGATAATAAAGTTCATCTC 0.373000 4 171 0 0 1 0 0 GPR158 57512 broad.mit.edu 37 10 25887455 25887455 + Missense_Mutation SNP C C A TCGA-2A-AAYU-01A-11D-A41K-08 TCGA-2A-AAYU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3333fa05-d0eb-46bb-91af-2492f5b84e23 1695b0a1-b764-4797-83d5-4fcfed8fb4a7 g.chr10:25887455C>A ENST00000376351.3 + 11 3259 c.2900C>A c.(2899-2901)cCa>cAa p.P967Q GPR158_ENST00000490549.1_3'UTR NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 967 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 GCGGAGGAGCCAAGAAAGCCT 0.463000 47 88 5.34276e-22 5.63957e-22 1 1 0 KIF6 221458 broad.mit.edu 37 6 39507801 39507801 + Silent SNP G G A TCGA-2A-AAYU-01A-11D-A41K-08 TCGA-2A-AAYU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3333fa05-d0eb-46bb-91af-2492f5b84e23 1695b0a1-b764-4797-83d5-4fcfed8fb4a7 g.chr6:39507801G>A ENST00000287152.7 - 13 1717 c.1623C>T c.(1621-1623)tcC>tcT p.S541S KIF6_ENST00000373213.4_Silent_p.S380S|KIF6_ENST00000373215.3_Silent_p.S541S|KIF6_ENST00000373216.3_Silent_p.S541S|KIF6_ENST00000538893.1_Intron NM_145027.4 NP_659464.3 Q6ZMV9 KIF6_HUMAN kinesin family member 6 541 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 GGAGCAAACTGGATCTTTTCC 0.448000 46 89 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 20975444 20975444 + Silent SNP C C T TCGA-2A-AAYU-01A-11D-A41K-08 TCGA-2A-AAYU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3333fa05-d0eb-46bb-91af-2492f5b84e23 1695b0a1-b764-4797-83d5-4fcfed8fb4a7 g.chr16:20975444C>T ENST00000261383.3 - 53 9761 c.9762G>A c.(9760-9762)ctG>ctA p.L3254L DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 3254 AAA 5 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) TTTCATCCTCCAGGATGTTAC 0.438000 75 96 0 0 1 0 0 RUNX1T1 862 broad.mit.edu 37 8 93017508 93017508 + Silent SNP C C G TCGA-2A-AAYU-01A-11D-A41K-08 TCGA-2A-AAYU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3333fa05-d0eb-46bb-91af-2492f5b84e23 1695b0a1-b764-4797-83d5-4fcfed8fb4a7 g.chr8:93017508C>G ENST00000523629.1 - 6 1030 c.576G>C c.(574-576)ctG>ctC p.L192L RUNX1T1_ENST00000422361.2_Silent_p.L155L|RUNX1T1_ENST00000518844.1_Silent_p.L165L|RUNX1T1_ENST00000360348.2_Silent_p.L155L|RUNX1T1_ENST00000520724.1_Silent_p.L155L|RUNX1T1_ENST00000436581.2_Silent_p.L203L|RUNX1T1_ENST00000396218.1_Silent_p.L165L|RUNX1T1_ENST00000265814.3_Silent_p.L192L|RUNX1T1_ENST00000521553.1_Silent_p.L155L NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2 NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1 Q06455 MTG8_HUMAN runt-related transcription factor 1; translocated to, 1 (cyclin D-related) 192 TAFH. generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 86 BRCA - Breast invasive adenocarcinoma(11;0.0141) GCTCACGCTGCAGCAGGGGCA 0.552000 5 26 0 0 1 0 0 RP1L1 94137 broad.mit.edu 37 8 10465053 10465053 + Silent SNP T T A TCGA-2A-AAYU-01A-11D-A41K-08 TCGA-2A-AAYU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3333fa05-d0eb-46bb-91af-2492f5b84e23 1695b0a1-b764-4797-83d5-4fcfed8fb4a7 g.chr8:10465053T>A ENST00000382483.3 - 4 6778 c.6555A>T c.(6553-6555)gcA>gcT p.A2185A NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 2185 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) CCTCCCCTTCTGCCTCTGGGG 0.607000 4 128 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547093 132547093 + Silent SNP A A G rs60608267 by1000genomes TCGA-2A-AAYU-01A-11D-A41K-08 TCGA-2A-AAYU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3333fa05-d0eb-46bb-91af-2492f5b84e23 1695b0a1-b764-4797-83d5-4fcfed8fb4a7 g.chr12:132547093A>G ENST00000333577.4 + 48 8398 c.8289A>G c.(8287-8289)caA>caG p.Q2763Q EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000389562.2_Silent_p.Q2726Q Q96L91 EP400_HUMAN E1A binding protein p400 2763 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2726Q(9) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcaacaacagcagcagc 0.567000 3 48 0 0 1 0 0 PCDHB1 0 broad.mit.edu 37 5 140431407 140431407 + Missense_Mutation SNP C C T TCGA-2A-AAYU-01A-11D-A41K-08 TCGA-2A-AAYU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3333fa05-d0eb-46bb-91af-2492f5b84e23 1695b0a1-b764-4797-83d5-4fcfed8fb4a7 g.chr5:140431407C>T ENST00000306549.3 + 1 429 c.352C>T c.(352-354)Cgg>Tgg p.R118W NM_013340.2 NP_037472.2 Q9Y5F3 PCDB1_HUMAN 118 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 53 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCAGTCCTTCCGGGCCGAGGT 0.517000 15 40 0 0 1 0 0 ESPL1 9700 broad.mit.edu 37 12 53663407 53663407 + Silent SNP C C T TCGA-2A-AAYU-01A-11D-A41K-08 TCGA-2A-AAYU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3333fa05-d0eb-46bb-91af-2492f5b84e23 1695b0a1-b764-4797-83d5-4fcfed8fb4a7 g.chr12:53663407C>T ENST00000257934.4 + 3 772 c.681C>T c.(679-681)caC>caT p.H227H ESPL1_ENST00000552462.1_Silent_p.H227H NM_012291.4 NP_036423.4 Q14674 ESPL1_HUMAN extra spindle pole bodies homolog 1 (S. cerevisiae) 227 apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis centrosome|nucleus cysteine-type peptidase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8) 70 TCTCCAGGCACGTGATCAGAG 0.567000 6 256 0 0 1 0 0 C5 727 broad.mit.edu 37 9 123779761 123779761 + Missense_Mutation SNP T T C TCGA-2A-AAYU-01A-11D-A41K-08 TCGA-2A-AAYU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3333fa05-d0eb-46bb-91af-2492f5b84e23 1695b0a1-b764-4797-83d5-4fcfed8fb4a7 g.chr9:123779761T>C ENST00000223642.1 - 14 1774 c.1745A>G c.(1744-1746)tAt>tGt p.Y582C NM_001735.2 NP_001726.2 P01031 CO5_HUMAN complement component 5 582 activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production extracellular space|membrane attack complex chemokine activity|endopeptidase inhibitor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242) Eculizumab(DB01257) GCCTGGAGAATATGCATCTGC 0.413000 22 25 0 0 1 0 0 KCNJ4 3761 broad.mit.edu 37 22 38824098 38824098 + Missense_Mutation SNP G G A TCGA-2A-AAYU-01A-11D-A41K-08 TCGA-2A-AAYU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3333fa05-d0eb-46bb-91af-2492f5b84e23 1695b0a1-b764-4797-83d5-4fcfed8fb4a7 g.chr22:38824098G>A ENST00000303592.3 - 2 298 c.40C>T c.(40-42)Cgg>Tgg p.R14W NM_004981.1|NM_152868.2 NP_004972.1|NP_690607.1 P48050 IRK4_HUMAN potassium inwardly-rectifying channel, subfamily J, member 4 14 synaptic transmission basolateral plasma membrane|voltage-gated potassium channel complex inward rectifier potassium channel activity|PDZ domain binding endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 23 Melanoma(58;0.0286) CGCTTCCGCCGGGGCACGTGG 0.642000 8 346 0 0 1 0 0 OLFML1 283298 broad.mit.edu 37 11 7531065 7531065 + Silent SNP G G A TCGA-2A-AAYU-01A-11D-A41K-08 TCGA-2A-AAYU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3333fa05-d0eb-46bb-91af-2492f5b84e23 1695b0a1-b764-4797-83d5-4fcfed8fb4a7 g.chr11:7531065G>A ENST00000329293.3 + 3 1249 c.855G>A c.(853-855)ggG>ggA p.G285G CTD-2516F10.2_ENST00000530201.1_RNA|OLFML1_ENST00000528758.1_3'UTR|OLFML1_ENST00000530135.1_Silent_p.G285G NM_198474.3 NP_940876.2 Q6UWY5 OLFL1_HUMAN olfactomedin-like 1 285 Olfactomedin-like. extracellular region breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2) 24 Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) TCCACTCTGGGCCAGGCACCC 0.572000 3 38 0 0 1 0 0 SYNPO 11346 broad.mit.edu 37 5 150027814 150027814 + Missense_Mutation SNP G G A rs78583075 by1000genomes TCGA-2A-AAYU-01A-11D-A41K-08 TCGA-2A-AAYU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3333fa05-d0eb-46bb-91af-2492f5b84e23 1695b0a1-b764-4797-83d5-4fcfed8fb4a7 g.chr5:150027814G>A ENST00000394243.1 + 3 1083 c.709G>A c.(709-711)Gac>Aac p.D237N SYNPO_ENST00000518872.1_Intron|SYNPO_ENST00000307662.4_5'UTR|SYNPO_ENST00000519664.1_5'UTR|SYNPO_ENST00000522122.1_Missense_Mutation_p.D237N NM_001166208.1 NP_001159680.1 Q8N3V7 SYNPO_HUMAN synaptopodin 237 positive regulation of actin filament bundle assembly|regulation of stress fiber assembly actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction actin binding|protein binding NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2) 18 Medulloblastoma(196;0.134)|all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCAGAGCCCCGACAGAGGGGT 0.672000 11 18 0 0 1 0 0 PRSS1 5644 broad.mit.edu 37 7 142459851 142459851 + Missense_Mutation SNP G G A TCGA-2A-AAYU-01A-11D-A41K-08 TCGA-2A-AAYU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3333fa05-d0eb-46bb-91af-2492f5b84e23 1695b0a1-b764-4797-83d5-4fcfed8fb4a7 g.chr7:142459851G>A ENST00000486171.1 + 4 486 c.469G>A c.(469-471)Ggc>Agc p.G157S PRSS1_ENST00000311737.7_Missense_Mutation_p.G143S P07477 TRY1_HUMAN protease, serine, 1 (trypsin 1) 143 Peptidase S1. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2) 38 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) CCTCATCTCTGGCTGGGGCAA 0.567000 11 44 0 0 1 0 0 LIG3 3980 broad.mit.edu 37 17 33310098 33310098 + Missense_Mutation SNP G G A TCGA-2A-AAYU-01A-11D-A41K-08 TCGA-2A-AAYU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3333fa05-d0eb-46bb-91af-2492f5b84e23 1695b0a1-b764-4797-83d5-4fcfed8fb4a7 g.chr17:33310098G>A ENST00000378526.4 + 2 207 c.74G>A c.(73-75)cGa>cAa p.R25Q LIG3_ENST00000586407.1_Intron|LIG3_ENST00000262327.5_Missense_Mutation_p.R25Q NM_013975.3 NP_039269.2 P49916 DNLI3_HUMAN ligase III, DNA, ATP-dependent 25 base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1) 31 Ovarian(249;0.17) Bleomycin(DB00290) TGCCTATTCCGAAAACATCAC 0.463000 Other BER factors 18 39 0 0 1 0 0 COL4A2 1284 broad.mit.edu 37 13 111130444 111130444 + Silent SNP G G A TCGA-2A-AAYU-01A-11D-A41K-08 TCGA-2A-AAYU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3333fa05-d0eb-46bb-91af-2492f5b84e23 1695b0a1-b764-4797-83d5-4fcfed8fb4a7 g.chr13:111130444G>A ENST00000360467.5 + 30 2826 c.2520G>A c.(2518-2520)ctG>ctA p.L840L NM_001846.2 NP_001837.2 P08572 CO4A2_HUMAN collagen, type IV, alpha 2 840 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) CTCCAGGACTGCATGGATTCC 0.662000 3 19 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237972270 237972270 + Nonsense_Mutation SNP C C T TCGA-2A-AAYU-01A-11D-A41K-08 TCGA-2A-AAYU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3333fa05-d0eb-46bb-91af-2492f5b84e23 1695b0a1-b764-4797-83d5-4fcfed8fb4a7 g.chr1:237972270C>T ENST00000366574.2 + 100 14685 c.14368C>T c.(14368-14370)Cga>Tga p.R4790* RYR2_ENST00000542537.1_Nonsense_Mutation_p.R4774*|RYR2_ENST00000360064.6_Nonsense_Mutation_p.R4796* NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4790 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding p.R4788R(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CAATTTTTTCCGAAAATTCTA 0.353000 68 88 0 0 1 0 0 TSSC2 0 broad.mit.edu 37 11 3427759 3427759 + RNA SNP C C T TCGA-2A-AAYU-01A-11D-A41K-08 TCGA-2A-AAYU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3333fa05-d0eb-46bb-91af-2492f5b84e23 1695b0a1-b764-4797-83d5-4fcfed8fb4a7 g.chr11:3427759C>T ENST00000529482.1 + 0 876 TGTCTGCACACGTCCTGCAGT 0.612000 3 28 0 0 1 0 0 FLRT2 23768 broad.mit.edu 37 14 86087985 86087985 + Missense_Mutation SNP G G A TCGA-2A-AAYU-01A-11D-A41K-08 TCGA-2A-AAYU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3333fa05-d0eb-46bb-91af-2492f5b84e23 1695b0a1-b764-4797-83d5-4fcfed8fb4a7 g.chr14:86087985G>A ENST00000330753.4 + 2 894 c.127G>A c.(127-129)Gac>Aac p.D43N FLRT2_ENST00000554746.1_Missense_Mutation_p.D43N NM_013231.4 NP_037363.1 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 43 LRRNT. cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity p.D43N(2) NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 73 BRCA - Breast invasive adenocarcinoma(234;0.0319) GTGCCGCTGCGACAGGAACTT 0.522000 17 105 0 0 1 0 0 PCDH12 51294 broad.mit.edu 37 5 141335501 141335501 + Missense_Mutation SNP C C T TCGA-2A-AAYU-01A-11D-A41K-08 TCGA-2A-AAYU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3333fa05-d0eb-46bb-91af-2492f5b84e23 1695b0a1-b764-4797-83d5-4fcfed8fb4a7 g.chr5:141335501C>T ENST00000231484.3 - 1 3126 c.1916G>A c.(1915-1917)cGc>cAc p.R639H NM_016580.2 NP_057664.1 Q9NPG4 PCD12_HUMAN protocadherin 12 639 Cadherin 6. neuron recognition integral to plasma membrane calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1) 38 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATTTCCACTGCGGATGCTGTA 0.567000 15 34 0 0 1 0 0 DRD5 0 broad.mit.edu 37 4 9784028 9784028 + Silent SNP T T C rs2227841 byFrequency TCGA-2A-AAYU-01A-11D-A41K-08 TCGA-2A-AAYU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3333fa05-d0eb-46bb-91af-2492f5b84e23 1695b0a1-b764-4797-83d5-4fcfed8fb4a7 g.chr4:9784028T>C ENST00000304374.2 + 1 771 c.375T>C c.(373-375)acT>acC p.T125T NM_000798.4 NP_000789.1 P21918 DRD5_HUMAN dopamine receptor D5 125 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1) 57 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) TGTGCTCCACTGCCTCCATCC 0.622000 4 43 0 0 1 0 0 RAI1 10743 broad.mit.edu 37 17 17697096 17697096 + Missense_Mutation SNP G G C rs113303801 TCGA-2A-AAYU-01A-11D-A41K-08 TCGA-2A-AAYU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3333fa05-d0eb-46bb-91af-2492f5b84e23 1695b0a1-b764-4797-83d5-4fcfed8fb4a7 g.chr17:17697096G>C ENST00000353383.1 + 3 1303 c.834G>C c.(832-834)caG>caC p.Q278H RAI1_ENST00000261641.6_Missense_Mutation_p.Q278H NM_030665.3 NP_109590.3 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 278 Gln-rich.|Poly-Gln. cytoplasm|nucleus zinc ion binding breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7) 48 READ - Rectum adenocarcinoma(1115;0.0276) GCTATGACcagcagcagcagc 0.637000 3 29 0 0 1 0 0 AZU1 566 broad.mit.edu 37 19 829580 829580 + Silent SNP C C T TCGA-2A-AAYU-01A-11D-A41K-08 TCGA-2A-AAYU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3333fa05-d0eb-46bb-91af-2492f5b84e23 1695b0a1-b764-4797-83d5-4fcfed8fb4a7 g.chr19:829580C>T ENST00000233997.2 + 3 255 c.234C>T c.(232-234)acC>acT p.T78T NM_001700.3 NP_001691.1 P20160 CAP7_HUMAN azurocidin 1 78 Hydrophobic.|Peptidase S1. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of MHC class II biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability azurophil granule|extracellular region heparin binding|serine-type endopeptidase activity|toxin binding NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2) 10 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGGTTAGCACCGTGGTGCTGG 0.637000 18 116 0 0 1 0 0 BANK1 55024 broad.mit.edu 37 4 102981512 102981512 + Missense_Mutation SNP A A C TCGA-2A-AAYU-01A-11D-A41K-08 TCGA-2A-AAYU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3333fa05-d0eb-46bb-91af-2492f5b84e23 1695b0a1-b764-4797-83d5-4fcfed8fb4a7 g.chr4:102981512A>C ENST00000504592.1 + 16 2487 c.2069A>C c.(2068-2070)cAg>cCg p.Q690P BANK1_ENST00000508653.1_Missense_Mutation_p.Q572P|BANK1_ENST00000444316.2_Missense_Mutation_p.Q675P|BANK1_ENST00000428908.1_Missense_Mutation_p.Q572P|BANK1_ENST00000322953.4_Missense_Mutation_p.Q705P Q8NDB2 BANK1_HUMAN B-cell scaffold protein with ankyrin repeats 1 705 B cell activation NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1) 44 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.7e-07) AAACACTGGCAGATGGGAAAA 0.433000 24 37 0 0 1 0 0 PSME4 23198 broad.mit.edu 37 2 54114534 54114534 + Missense_Mutation SNP G G C TCGA-2A-AAYU-01A-11D-A41K-08 TCGA-2A-AAYU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3333fa05-d0eb-46bb-91af-2492f5b84e23 1695b0a1-b764-4797-83d5-4fcfed8fb4a7 g.chr2:54114534G>C ENST00000404125.1 - 40 4646 c.4591C>G c.(4591-4593)Cct>Gct p.P1531A PSME4_ENST00000421748.2_Missense_Mutation_p.P675A NM_014614.2 NP_055429.2 Q14997 PSME4_HUMAN proteasome (prosome, macropain) activator subunit 4 1531 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction nuclear speck|proteasome complex binding breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2) 60 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) GTAAACTCAGGGACATGAGGC 0.373000 8 52 0 0 1 0 0 NETO2 81831 broad.mit.edu 37 16 47143592 47143592 + Missense_Mutation SNP C C T TCGA-2A-AAYU-01A-11D-A41K-08 TCGA-2A-AAYU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3333fa05-d0eb-46bb-91af-2492f5b84e23 1695b0a1-b764-4797-83d5-4fcfed8fb4a7 g.chr16:47143592C>T ENST00000562435.1 - 7 1069 c.685G>A c.(685-687)Gag>Aag p.E229K NETO2_ENST00000303155.5_Missense_Mutation_p.E222K NM_018092.4 NP_060562.3 Q8NC67 NETO2_HUMAN neuropilin (NRP) and tolloid (TLL)-like 2 229 CUB 2. integral to membrane receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 29 all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174) TTTGAGTGCTCCATTTGATAA 0.323000 HNSCC(25;0.065) 29 44 0 0 1 0 0 AMZ2P1 0 broad.mit.edu 37 17 62968690 62968690 + RNA SNP A A G rs138671696 by1000genomes TCGA-2A-AAYU-01A-11D-A41K-08 TCGA-2A-AAYU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3333fa05-d0eb-46bb-91af-2492f5b84e23 1695b0a1-b764-4797-83d5-4fcfed8fb4a7 g.chr17:62968690A>G ENST00000430983.1 - 0 1554 NR_026903.1 AAAATTCCACAAGTCTCTTGG 0.373000 7 102 0 0 1 0 0 GAS7 8522 broad.mit.edu 37 17 9843494 9843494 + Missense_Mutation SNP G G A TCGA-2A-AAYU-01A-11D-A41K-08 TCGA-2A-AAYU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3333fa05-d0eb-46bb-91af-2492f5b84e23 1695b0a1-b764-4797-83d5-4fcfed8fb4a7 g.chr17:9843494G>A ENST00000396115.1 - 8 885 c.575C>T c.(574-576)gCg>gTg p.A192V GAS7_ENST00000540214.1_Intron|GAS7_ENST00000323816.4_Missense_Mutation_p.A188V|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000432992.2_Missense_Mutation_p.A252V|GAS7_ENST00000585266.1_Missense_Mutation_p.A188V|GAS7_ENST00000542249.1_Missense_Mutation_p.A197V|GAS7_ENST00000437099.2_Missense_Mutation_p.A188V|GAS7_ENST00000580865.1_Missense_Mutation_p.A112V|GAS7_ENST00000579158.1_Missense_Mutation_p.A204V NM_201432.1 NP_958836.1 O60861 GAS7_HUMAN growth arrest-specific 7 252 cell cycle arrest cytoplasm sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 39 TAAGTTCTTCGCATAGTCTTC 0.537000 T MLL AML* 5 194 0 0 1 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887612 12887612 + Missense_Mutation SNP T T C rs60558629 TCGA-2A-AAYU-01A-11D-A41K-08 TCGA-2A-AAYU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3333fa05-d0eb-46bb-91af-2492f5b84e23 1695b0a1-b764-4797-83d5-4fcfed8fb4a7 g.chr1:12887612T>C ENST00000535591.1 - 3 440 c.245A>G c.(244-246)cAt>cGt p.H82R NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 82 p.H82R(1) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 GAAGCACCCATGGGCCATAGC 0.488000 5 117 0 0 1 0 0 MUC13 56667 broad.mit.edu 37 3 124627149 124627149 + Missense_Mutation SNP C C T rs75643991 TCGA-2A-AAYU-01A-11D-A41K-08 TCGA-2A-AAYU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3333fa05-d0eb-46bb-91af-2492f5b84e23 1695b0a1-b764-4797-83d5-4fcfed8fb4a7 g.chr3:124627149C>T ENST00000311075.3 - 11 1419 c.1381G>A c.(1381-1383)Gaa>Aaa p.E461K NM_033049.3 NP_149038.3 Q9H3R2 MUC13_HUMAN mucin 13, cell surface associated 461 extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1) 18 TGAAAGTCTTCGTCAATCAAG 0.413000 16 59 0 0 1 0 0 SLC4A2 6522 broad.mit.edu 37 7 150773114 150773114 + Silent SNP T T C TCGA-2A-AAYU-01A-11D-A41K-08 TCGA-2A-AAYU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3333fa05-d0eb-46bb-91af-2492f5b84e23 1695b0a1-b764-4797-83d5-4fcfed8fb4a7 g.chr7:150773114T>C ENST00000485713.1 + 22 4526 c.3486T>C c.(3484-3486)cgT>cgC p.R1162R SLC4A2_ENST00000310317.5_Silent_p.R1080R|RP11-148K1.12_ENST00000485974.1_RNA|SLC4A2_ENST00000392826.2_Silent_p.R1153R|SLC4A2_ENST00000413384.2_Silent_p.R1162R|SLC4A2_ENST00000461735.1_Silent_p.R1148R NM_001199692.1 NP_001186621.1 P04920 B3A2_HUMAN solute carrier family 4 (anion exchanger), member 2 1162 Membrane (anion exchange). bicarbonate transport integral to membrane|membrane fraction inorganic anion exchanger activity NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GGACCCTCCGTATGCACCTGT 0.652000 19 27 0 0 1 0 0 YTHDC2 64848 broad.mit.edu 37 5 112878169 112878169 + Silent SNP C C T TCGA-2A-AAYU-01A-11D-A41K-08 TCGA-2A-AAYU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3333fa05-d0eb-46bb-91af-2492f5b84e23 1695b0a1-b764-4797-83d5-4fcfed8fb4a7 g.chr5:112878169C>T ENST00000161863.4 + 10 1677 c.1464C>T c.(1462-1464)gtC>gtT p.V488V YTHDC2_ENST00000515883.1_Silent_p.V488V NM_022828.3 NP_073739.3 Q9H6S0 YTDC2_HUMAN YTH domain containing 2 488 ATP binding|ATP-dependent helicase activity|nucleic acid binding p.V488V(1) NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594) TTGCTCAGGTCTTTCATCTCA 0.294000 20 73 0 0 1 0 0 ANGPTL5 253935 broad.mit.edu 37 11 101765741 101765741 + Missense_Mutation SNP G G A TCGA-2A-AAYU-01A-11D-A41K-08 TCGA-2A-AAYU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3333fa05-d0eb-46bb-91af-2492f5b84e23 1695b0a1-b764-4797-83d5-4fcfed8fb4a7 g.chr11:101765741G>A ENST00000334289.3 - 8 1311 c.716C>T c.(715-717)aCc>aTc p.T239I NM_178127.4 NP_835228.2 Q86XS5 ANGL5_HUMAN angiopoietin-like 5 239 Fibrinogen C-terminal. signal transduction extracellular space receptor binding breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3) 29 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043) BRCA - Breast invasive adenocarcinoma(274;0.0328) CATAAAACTGGTATTTTTCTG 0.274000 9 43 0 0 1 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-2A-AAYU-01A-11D-A41K-08 TCGA-2A-AAYU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3333fa05-d0eb-46bb-91af-2492f5b84e23 1695b0a1-b764-4797-83d5-4fcfed8fb4a7 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 4 45 0 0 1 0 0 ZSCAN25 221785 broad.mit.edu 37 7 99217449 99217449 + Missense_Mutation SNP G G A TCGA-2A-AAYU-01A-11D-A41K-08 TCGA-2A-AAYU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3333fa05-d0eb-46bb-91af-2492f5b84e23 1695b0a1-b764-4797-83d5-4fcfed8fb4a7 g.chr7:99217449G>A ENST00000394152.2 + 4 547 c.220G>A c.(220-222)Gag>Aag p.E74K ZSCAN25_ENST00000262941.6_Missense_Mutation_p.E74K|ZSCAN25_ENST00000466948.1_3'UTR|ZSCAN25_ENST00000334715.3_Missense_Mutation_p.E74K NM_145115.2 NP_660090.2 zinc finger and SCAN domain containing 25 GCTGAGGCCCGAGTTGCACAC 0.627000 37 75 0 0 1 0 0 GBP6 163351 broad.mit.edu 37 1 89844044 89844044 + Missense_Mutation SNP C C T TCGA-2A-AAYU-01A-11D-A41K-08 TCGA-2A-AAYU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3333fa05-d0eb-46bb-91af-2492f5b84e23 1695b0a1-b764-4797-83d5-4fcfed8fb4a7 g.chr1:89844044C>T ENST00000370456.4 + 5 590 c.497C>T c.(496-498)tCc>tTc p.S166F GBP6_ENST00000535065.1_Missense_Mutation_p.S36F NM_198460.2 NP_940862.2 Q6ZN66 GBP6_HUMAN guanylate binding protein family, member 6 166 GTP binding|GTPase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 42 Lung NSC(277;0.0908) all cancers(265;0.0108)|Epithelial(280;0.0398) GTAGAAGATTCCACAGAGTTT 0.453000 22 80 0 0 1 0 0 ADH6 130 broad.mit.edu 37 4 100126203 100126203 + Missense_Mutation SNP G G A TCGA-2A-AAYU-01A-11D-A41K-08 TCGA-2A-AAYU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3333fa05-d0eb-46bb-91af-2492f5b84e23 1695b0a1-b764-4797-83d5-4fcfed8fb4a7 g.chr4:100126203G>A ENST00000394899.2 - 8 1075 c.982C>T c.(982-984)Cac>Tac p.H328Y RP11-696N14.1_ENST00000500358.2_RNA|RP11-696N14.1_ENST00000506454.1_RNA|ADH6_ENST00000407820.2_Missense_Mutation_p.H119Y|ADH6_ENST00000394897.1_Silent_p.S282S|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000237653.7_Missense_Mutation_p.H328Y NM_001102470.1 NP_001095940.1 P28332 ADH6_HUMAN alcohol dehydrogenase 6 (class V) 328 ethanol oxidation|response to ethanol|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2) 20 OV - Ovarian serous cystadenocarcinoma(123;3.58e-08) Abacavir(DB01048)|NADH(DB00157) TTAGGGATGTGCTGTCTGCTC 0.363000 4 106 0 0 1 0 0 ZNF761 388561 broad.mit.edu 37 19 53945837 53945837 + RNA SNP T T C rs17855120 by1000genomes TCGA-2A-AAYU-01A-11D-A41K-08 TCGA-2A-AAYU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3333fa05-d0eb-46bb-91af-2492f5b84e23 1695b0a1-b764-4797-83d5-4fcfed8fb4a7 g.chr19:53945837T>C ENST00000454407.1 + 0 55 TPM3P9_ENST00000424846.3_RNA Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) GGACCAGACTTTGCTTGACCT 0.512000 3 27 0 0 1 0 0 SCP2 6342 broad.mit.edu 37 1 53453802 53453802 + Missense_Mutation SNP G G A TCGA-2A-AAYU-01A-11D-A41K-08 TCGA-2A-AAYU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3333fa05-d0eb-46bb-91af-2492f5b84e23 1695b0a1-b764-4797-83d5-4fcfed8fb4a7 g.chr1:53453802G>A ENST00000371514.3 + 11 1243 c.1075G>A c.(1075-1077)Gct>Act p.A359T SCP2_ENST00000528311.1_Missense_Mutation_p.A278T|SCP2_ENST00000407246.2_Missense_Mutation_p.A335T|SCP2_ENST00000371509.4_Missense_Mutation_p.A315T|SCP2_ENST00000371513.5_Missense_Mutation_p.A315T NM_002979.4 NP_002970.2 P22307 NLTP_HUMAN sterol carrier protein 2 359 bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport mitochondrion|nucleus|peroxisomal matrix propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1) 15 CCCACTAGGCGCTACAGGTAA 0.368000 15 18 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195400795 195400795 + RNA SNP C C T rs7615357 by1000genomes TCGA-2A-AAYU-01A-11D-A41K-08 TCGA-2A-AAYU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3333fa05-d0eb-46bb-91af-2492f5b84e23 1695b0a1-b764-4797-83d5-4fcfed8fb4a7 g.chr3:195400795C>T ENST00000445430.1 + 0 1391 GGGGCAAACTCGCTGTTGGAC 0.592000 3 38 0 0 1 0 0 OR4K15 81127 broad.mit.edu 37 14 20444489 20444489 + Missense_Mutation SNP T T A TCGA-2A-AAYU-01A-11D-A41K-08 TCGA-2A-AAYU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3333fa05-d0eb-46bb-91af-2492f5b84e23 1695b0a1-b764-4797-83d5-4fcfed8fb4a7 g.chr14:20444489T>A ENST00000305051.5 + 1 887 c.812T>A c.(811-813)gTc>gAc p.V271D NM_001005486.1 NP_001005486.1 Q8NH41 OR4KF_HUMAN olfactory receptor, family 4, subfamily K, member 15 271 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1) 39 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;3.58e-06) GBM - Glioblastoma multiforme(265;0.00327) ATCACTGTGGTCACTTTATTC 0.458000 24 53 0 0 1 0 0 MKI67 4288 broad.mit.edu 37 10 129911740 129911740 + Missense_Mutation SNP C C A TCGA-2A-AAYU-01A-11D-A41K-08 TCGA-2A-AAYU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3333fa05-d0eb-46bb-91af-2492f5b84e23 1695b0a1-b764-4797-83d5-4fcfed8fb4a7 g.chr10:129911740C>A ENST00000368654.3 - 8 1982 c.1607G>T c.(1606-1608)aGa>aTa p.R536I MKI67_ENST00000368653.3_Missense_Mutation_p.R176I NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 536 cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) CAGAGACTTTCTTTTGGTTGG 0.498000 6 205 0.00116845 0.00116845 1 1 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664240 22664240 + RNA SNP T T G TCGA-2A-AAYU-01A-11D-A41K-08 TCGA-2A-AAYU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3333fa05-d0eb-46bb-91af-2492f5b84e23 1695b0a1-b764-4797-83d5-4fcfed8fb4a7 g.chr22:22664240T>G ENST00000426066.1 + 0 763 NR_027293.1 GATAAGCTGCTGATGAGCGGT 0.532000 3 53 0 0 1 0 0 TENM2 57451 broad.mit.edu 37 5 167420005 167420005 + Missense_Mutation SNP C C T TCGA-2A-AAYU-01A-11D-A41K-08 TCGA-2A-AAYU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3333fa05-d0eb-46bb-91af-2492f5b84e23 1695b0a1-b764-4797-83d5-4fcfed8fb4a7 g.chr5:167420005C>T ENST00000519204.1 + 4 759 c.641C>T c.(640-642)cCg>cTg p.P214L TENM2_ENST00000520393.1_3'UTR|TENM2_ENST00000545108.1_Missense_Mutation_p.P335L|TENM2_ENST00000403607.2_Missense_Mutation_p.P168L|TENM2_ENST00000518659.1_Missense_Mutation_p.P335L|TENM2_ENST00000520394.1_Missense_Mutation_p.P144L teneurin transmembrane protein 2 AGCTCTTCCCCGGGATACCCT 0.577000 6 62 0 0 1 0 0 MGST1 4257 broad.mit.edu 37 12 16516847 16516847 + Missense_Mutation SNP C C T TCGA-2A-AAYU-01A-11D-A41K-08 TCGA-2A-AAYU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3333fa05-d0eb-46bb-91af-2492f5b84e23 1695b0a1-b764-4797-83d5-4fcfed8fb4a7 g.chr12:16516847C>T ENST00000396209.1 + 4 483 c.340C>T c.(340-342)Cgg>Tgg p.R114W MGST1_ENST00000396207.1_Missense_Mutation_p.R114W|MGST1_ENST00000535309.1_Intron|MGST1_ENST00000010404.2_Missense_Mutation_p.R114W|MGST1_ENST00000396210.3_Missense_Mutation_p.R114W|MGST1_ENST00000540056.1_3'UTR NM_145791.2 NP_665734.1 P10620 MGST1_HUMAN microsomal glutathione S-transferase 1 114 protein homotrimerization|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane glutathione transferase activity p.R114W(1) endometrium(2)|large_intestine(2)|lung(4)|ovary(1) 9 Hepatocellular(102;0.121) Glutathione(DB00143) TGTCGGAGCACGGATCTACCA 0.448000 8 179 0 0 1 0 0 KRTAP4-5 85289 broad.mit.edu 37 17 39305619 39305619 + Missense_Mutation SNP G G T TCGA-2A-AAYU-01A-11D-A41K-08 TCGA-2A-AAYU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3333fa05-d0eb-46bb-91af-2492f5b84e23 1695b0a1-b764-4797-83d5-4fcfed8fb4a7 g.chr17:39305619G>T ENST00000343246.4 - 1 435 c.401C>A c.(400-402)tCt>tAt p.S134Y NM_033188.3 NP_149445.3 Q9BYR2 KRA45_HUMAN keratin associated protein 4-5 139 27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC]. keratin filament p.S134Y(2) central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4) 6 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) ttcacagcaagaggggtggca 0.637000 3 15 0.00024832 0.000252754 1 1 0 DAXX 1616 broad.mit.edu 37 6 33287453 33287453 + Frame_Shift_Del DEL A A - TCGA-2A-AAYU-01A-11D-A41K-08 TCGA-2A-AAYU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3333fa05-d0eb-46bb-91af-2492f5b84e23 1695b0a1-b764-4797-83d5-4fcfed8fb4a7 g.chr6:33287453delA ENST00000374542.5 - 6 1848 c.1644delT c.(1642-1644)aafs p.N548fs DAXX_ENST00000266000.6_Frame_Shift_Del_p.N548fs|DAXX_ENST00000477162.1_5'UTR|DAXX_ENST00000414083.2_Frame_Shift_Del_p.N473fs NM_001141969.1|NM_001141970.1|NM_001350.4 NP_001135441.1|NP_001135442.1|NP_001341.1 Q9UER7 DAXX_HUMAN death-domain associated protein 548 Asp/Glu-rich (acidic).|Interaction with MAP3K5.|Necessary for interaction with USP7. activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent chromosome, centromeric region|cytosol|nucleolus|PML body androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 55 GCTGTTCTCCATTGCTTTCAG 0.532 """Mis, F, N""" Pancreatic neuroendocrine tumors. Paediatric GBM 35 103 --- --- --- --- PMS2P4 0 broad.mit.edu 37 7 66762433 66762433 + RNA DEL A A - rs68053451 TCGA-2A-AAYU-01A-11D-A41K-08 TCGA-2A-AAYU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3333fa05-d0eb-46bb-91af-2492f5b84e23 1695b0a1-b764-4797-83d5-4fcfed8fb4a7 g.chr7:66762433delA ENST00000414507.1 - 0 184 tctcaaaaagaaaaaaaaaaa 0.408 3 4 --- --- --- --- FTH1 2495 broad.mit.edu 37 11 61727341 61727343 + In_Frame_Del DEL CTT CTT - rs62640560 TCGA-2A-AAYU-01A-11D-A41K-08 TCGA-2A-AAYU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3333fa05-d0eb-46bb-91af-2492f5b84e23 1695b0a1-b764-4797-83d5-4fcfed8fb4a7 g.chr11:61727341_61727343delCTT ENST00000529191.1 - 2 376_378 c.171_173delAAG c.(169-174)agt>ag p.RS57del BEST1_ENST00000378043.4_Intron|BEST1_ENST00000301774.9_Intron|BEST1_ENST00000378042.3_Intron|BEST1_ENST00000534553.1_Intron|BEST1_ENST00000449131.2_Intron|FTH1_ENST00000529631.1_In_Frame_Del_p.K50del|BEST1_ENST00000526988.1_Intron|BEST1_ENST00000435278.2_Intron P02794 FRIH_HUMAN ferritin, heavy polypeptide 1 0 Ferritin-like diiron. cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport cytosol|intracellular ferritin complex ferric iron binding|ferroxidase activity|protein binding NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 8 Iron Dextran(DB00893) TTCTGTGGGACTTCTTCTGTCCC 0.557 14 14 --- --- --- ---