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 KCNN3 3782 broad.mit.edu 37 1 154841828 154841828 + Missense_Mutation SNP C C T TCGA-FE-A235-01A-11D-A16O-08 TCGA-FE-A235-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe317172-c1fd-4d34-a694-ef2be40ff0e4 93ec843a-30ab-4881-ac2a-7bfcd79d5e67 g.chr1:154841828C>T uc021pah.1 - 0 927 c.613G>A c.(613-615)Ggc>Agc p.G205S KCNN3_uc001ffp.3_Missense_Mutation_p.G205S|KCNN3_uc009wox.1_Missense_Mutation_p.G205S NM_001204087 NP_001191016 Q9UGI6 KCNN3_HUMAN Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 (KCNN3), transcript variant 3, mRNA. 210 integral to membrane calmodulin binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1) 28 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) AGGGGTTGGCCCTCAGTCTCG 0.632000 32 33 0 0 1 0 0 TIA1 7072 broad.mit.edu 37 2 70439917 70439917 + Silent SNP C C T TCGA-FE-A235-01A-11D-A16O-08 TCGA-FE-A235-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe317172-c1fd-4d34-a694-ef2be40ff0e4 93ec843a-30ab-4881-ac2a-7bfcd79d5e67 g.chr2:70439917C>T uc002sgj.4 - 12 1312 c.1095G>A c.(1093-1095)ggG>ggA p.G365G TIA1_uc002sgk.4_Silent_p.G354G|TIA1_uc002sgl.4_Non-coding_Transcript NM_022173 NP_071505 P31483 TIA1_HUMAN Homo sapiens TIA1 cytotoxic granule-associated RNA binding protein (TIA1), transcript variant 2, mRNA. 365 apoptosis|induction of apoptosis|regulation of nuclear mRNA splicing, via spliceosome nucleus nucleotide binding|poly(A) RNA binding|protein binding endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1) 17 TGCCATTTTGCCCTTGAGGCG 0.502000 4 130 0 0 1 0 0 NPR1 4881 broad.mit.edu 37 1 153660571 153660571 + Missense_Mutation SNP G G A TCGA-FE-A235-01A-11D-A16O-08 TCGA-FE-A235-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe317172-c1fd-4d34-a694-ef2be40ff0e4 93ec843a-30ab-4881-ac2a-7bfcd79d5e67 g.chr1:153660571G>A uc001fcs.4 + 14 2712 c.2291G>A c.(2290-2292)cGg>cAg p.R764Q NPR1_uc010pdz.2_Missense_Mutation_p.R510Q|NPR1_uc010pea.2_Missense_Mutation_p.R242Q NM_000906 NP_000897 P16066 ANPRA_HUMAN Homo sapiens natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) (NPR1), mRNA. 764 Protein kinase. body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325) CCCCCCTTCCGGCCCTCCCTG 0.657000 26 44 0 0 1 0 0 ANKRD5 63926 broad.mit.edu 37 20 10025188 10025188 + Silent SNP C C T TCGA-FE-A235-01A-11D-A16O-08 TCGA-FE-A235-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe317172-c1fd-4d34-a694-ef2be40ff0e4 93ec843a-30ab-4881-ac2a-7bfcd79d5e67 g.chr20:10025188C>T uc002wno.3 + 4 1086 c.693C>T c.(691-693)ttC>ttT p.F231F LOC100131208_uc002wnn.2_Intron|ANKRD5_uc002wnp.3_Silent_p.F231F|ANKRD5_uc010gbz.3_Silent_p.F42F NM_022096 NP_942093 Q9NU02 ANKR5_HUMAN Homo sapiens ankyrin repeat domain 5 (ANKRD5), transcript variant 1, mRNA. 231 calcium ion binding breast(2)|endometrium(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 37 GAGGCTTTTTCGATGTAATAA 0.358000 4 101 0 0 1 0 0 SLC2A9 56606 broad.mit.edu 37 4 9982230 9982230 + Missense_Mutation SNP C C T rs147289616 byFrequency TCGA-FE-A235-01A-11D-A16O-08 TCGA-FE-A235-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe317172-c1fd-4d34-a694-ef2be40ff0e4 93ec843a-30ab-4881-ac2a-7bfcd79d5e67 g.chr4:9982230C>T uc003gmc.3 - 4 728 c.667G>A c.(667-669)Gag>Aag p.E223K SLC2A9_uc003gmd.3_Missense_Mutation_p.E194K NM_020041 NP_064425 Q9NRM0 GTR9_HUMAN Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 9 (SLC2A9), transcript variant 1, mRNA. 223 glucose transport|urate metabolic process integral to membrane|plasma membrane sugar:hydrogen symporter activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1) 35 CCCAGCAGCTCGGGCAGGCCC 0.567000 5 49 0 0 1 0 0 TMPRSS11F 389208 broad.mit.edu 37 4 68939712 68939712 + Nonsense_Mutation SNP G G A TCGA-FE-A235-01A-11D-A16O-08 TCGA-FE-A235-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe317172-c1fd-4d34-a694-ef2be40ff0e4 93ec843a-30ab-4881-ac2a-7bfcd79d5e67 g.chr4:68939712G>A uc003hdt.1 - 3 347 c.298C>T c.(298-300)Cga>Tga p.R100* LOC550112_uc003hdl.4_Intron NM_207407 NP_997290 Q6ZWK6 TM11F_HUMAN Homo sapiens transmembrane protease, serine 11F (TMPRSS11F), mRNA. 100 SEA. proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4) 39 GAAGAATGTCGAAATATCCTA 0.244000 10 16 0 0 1 0 0 PRDM9 56979 broad.mit.edu 37 5 23526762 23526762 + Missense_Mutation SNP C C T TCGA-FE-A235-01A-11D-A16O-08 TCGA-FE-A235-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe317172-c1fd-4d34-a694-ef2be40ff0e4 93ec843a-30ab-4881-ac2a-7bfcd79d5e67 g.chr5:23526762C>T uc003jgo.3 + 10 1747 c.1565C>T c.(1564-1566)gCa>gTa p.A522V NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN Homo sapiens PR domain containing 9 (PRDM9), mRNA. 522 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 TCAAGAATTGCAAAAGTCAAG 0.433000 HNSCC(3;0.000094) 5 71 0 0 1 0 0 TRO 7216 broad.mit.edu 37 X 54954164 54954164 + Missense_Mutation SNP C C T TCGA-FE-A235-01A-11D-A16O-08 TCGA-FE-A235-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe317172-c1fd-4d34-a694-ef2be40ff0e4 93ec843a-30ab-4881-ac2a-7bfcd79d5e67 g.chrX:54954164C>T uc004dtq.3 + 10 1935 c.1828C>T c.(1828-1830)Cgc>Tgc p.R610C TRO_uc004dts.3_Missense_Mutation_p.R610C|TRO_uc004dtr.3_Missense_Mutation_p.R610C|TRO_uc004dtt.3_Non-coding_Transcript|TRO_uc004dtu.3_Non-coding_Transcript|TRO_uc004dtv.3_Missense_Mutation_p.R213C|TRO_uc011mok.2_Missense_Mutation_p.R141C|TRO_uc004dtw.3_Missense_Mutation_p.R213C|TRO_uc004dtx.3_5'UTR NM_001039705 NP_001034794 Q12816 TROP_HUMAN Homo sapiens trophinin (TRO), transcript variant 6, mRNA. 610 MAGE. embryo implantation|homophilic cell adhesion integral to plasma membrane p.R610C(3) breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1) 37 CTGGGGCTTGCGCTCCTACCA 0.483000 4 93 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-FE-A235-01A-11D-A16O-08 TCGA-FE-A235-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe317172-c1fd-4d34-a694-ef2be40ff0e4 93ec843a-30ab-4881-ac2a-7bfcd79d5e67 g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 31 59 0 0 1 0 0 PHF6 84295 broad.mit.edu 37 X 133527567 133527567 + Missense_Mutation SNP G G T TCGA-FE-A235-01A-11D-A16O-08 TCGA-FE-A235-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe317172-c1fd-4d34-a694-ef2be40ff0e4 93ec843a-30ab-4881-ac2a-7bfcd79d5e67 g.chrX:133527567G>T uc004exj.3 + 3 479 c.277G>T c.(277-279)Ggt>Tgt p.G93C PHF6_uc004exk.3_Missense_Mutation_p.G93C|PHF6_uc011mvk.2_Missense_Mutation_p.G59C|PHF6_uc004exh.3_Missense_Mutation_p.G93C|PHF6_uc010nrr.3_Missense_Mutation_p.G93C|PHF6_uc004exi.3_Missense_Mutation_p.G93C NM_001015877 NP_115834 Q8IWS0 PHF6_HUMAN Homo sapiens PHD finger protein 6 (PHF6), transcript variant 1, mRNA. 93 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus zinc ion binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1) 103 Acute lymphoblastic leukemia(192;0.000127) AGCAACAATTGGTTGTGATGT 0.368000 """F, N, Splice, Mis""" ETP ALL 15 167 0 0 1 0 0 STC2 8614 broad.mit.edu 37 5 172752921 172752921 + Missense_Mutation SNP G G A TCGA-FE-A235-01A-11D-A16O-08 TCGA-FE-A235-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe317172-c1fd-4d34-a694-ef2be40ff0e4 93ec843a-30ab-4881-ac2a-7bfcd79d5e67 g.chr5:172752921G>A uc003mco.1 - 1 1554 c.244C>T c.(244-246)Cat>Tat p.H82Y STC2_uc003mcn.1_5'UTR NM_003714 NP_003705 O76061 STC2_HUMAN Homo sapiens stanniocalcin 2 (STC2), mRNA. 82 cell surface receptor linked signaling pathway|cell-cell signaling extracellular region hormone activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3) 25 Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) CAAATCCCATGTAAGCCCCGA 0.468000 12 373 0 0 1 0 0 DCAF12L2 340578 broad.mit.edu 37 X 125298907 125298907 + Missense_Mutation SNP G G A TCGA-FE-A235-01A-11D-A16O-08 TCGA-FE-A235-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe317172-c1fd-4d34-a694-ef2be40ff0e4 93ec843a-30ab-4881-ac2a-7bfcd79d5e67 g.chrX:125298907G>A uc004euk.2 - 0 1174 c.1001C>T c.(1000-1002)cCg>cTg p.P334L NM_001013628 NP_001013650 Q5VW00 DC122_HUMAN Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA. 334 p.P334P(1) NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3) 64 GCGCTGGCGCGGATCCAGGAA 0.617000 49 81 0 0 1 0 0 CACNA1G 8913 broad.mit.edu 37 17 48680555 48680555 + Silent SNP G G A TCGA-FE-A235-01A-11D-A16O-08 TCGA-FE-A235-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe317172-c1fd-4d34-a694-ef2be40ff0e4 93ec843a-30ab-4881-ac2a-7bfcd79d5e67 g.chr17:48680555G>A uc002irk.1 + 20 4536 c.4164G>A c.(4162-4164)ccG>ccA p.P1388P CACNA1G_uc002iri.1_Silent_p.P1388P|CACNA1G_uc002irj.1_Silent_p.P1365P|CACNA1G_uc002irl.1_Silent_p.P1365P|CACNA1G_uc002irm.1_Silent_p.P1365P|CACNA1G_uc002irn.1_Silent_p.P1365P|CACNA1G_uc002iro.1_Silent_p.P1365P|CACNA1G_uc002irp.1_Silent_p.P1388P|CACNA1G_uc002irq.1_Silent_p.P1365P|CACNA1G_uc002irr.1_Silent_p.P1388P|CACNA1G_uc002irs.1_Silent_p.P1388P|CACNA1G_uc002irt.1_Silent_p.P1388P|CACNA1G_uc002iru.1_Silent_p.P1365P|CACNA1G_uc002irv.1_Silent_p.P1388P|CACNA1G_uc002irw.1_Silent_p.P1365P|CACNA1G_uc002irx.1_Silent_p.P1301P|CACNA1G_uc002iry.1_Silent_p.P1301P|CACNA1G_uc002isg.1_Silent_p.P1301P|CACNA1G_uc002ish.1_Silent_p.P1301P|CACNA1G_uc002isi.1_Silent_p.P1278P|CACNA1G_uc002irz.1_Silent_p.P1301P|CACNA1G_uc002isa.1_Silent_p.P1301P|CACNA1G_uc002isd.1_Silent_p.P1301P|CACNA1G_uc002isb.1_Silent_p.P1301P|CACNA1G_uc002isc.1_Silent_p.P1301P|CACNA1G_uc002ise.1_Silent_p.P1301P|CACNA1G_uc002isf.1_Silent_p.P1301P|CACNA1G_uc002isj.3_Silent_p.P112P NM_018896 NP_061496 O43497 CAC1G_HUMAN Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA. 1388 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) CCCTGCGCCCGCTCAGGTGAC 0.637000 10 17 0 0 1 0 0 IARS 3376 broad.mit.edu 37 9 95030578 95030578 + Missense_Mutation SNP G G C TCGA-FE-A235-01A-11D-A16O-08 TCGA-FE-A235-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe317172-c1fd-4d34-a694-ef2be40ff0e4 93ec843a-30ab-4881-ac2a-7bfcd79d5e67 g.chr9:95030578G>C uc004art.1 - 13 1566 c.1309C>G c.(1309-1311)Cca>Gca p.P437A IARS_uc004ars.1_Missense_Mutation_p.P282A|IARS_uc004aru.3_Missense_Mutation_p.P437A|IARS_uc010mqr.2_Missense_Mutation_p.P327A|IARS_uc010mqt.2_Intron NM_013417 NP_038203 P41252 SYIC_HUMAN Homo sapiens isoleucyl-tRNA synthetase (IARS), transcript variant long, mRNA. 437 isoleucyl-tRNA aminoacylation cytosol|nucleus|soluble fraction ATP binding|isoleucine-tRNA ligase activity|protein binding breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 35 L-Isoleucine(DB00167) ACCAACTCTGGGACCCTGCAA 0.418000 15 139 0 0 1 0 0 FIP1L1 81608 broad.mit.edu 37 4 54310242 54310242 + Missense_Mutation SNP T T C TCGA-FE-A235-01A-11D-A16O-08 TCGA-FE-A235-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe317172-c1fd-4d34-a694-ef2be40ff0e4 93ec843a-30ab-4881-ac2a-7bfcd79d5e67 g.chr4:54310242T>C uc003hae.3 + 3 267 c.11T>C c.(10-12)gTt>gCt p.V4A PDGFRA_uc003haa.3_Intron|PDGFRA_uc003gzy.3_Silent_p.R419R|PDGFRA_uc011bzu.2_Silent_p.R413R|PDGFRA_uc003gzz.3_Silent_p.R345R|PDGFRA_uc003hab.3_Silent_p.R384R|PDGFRA_uc010ign.3_Non-coding_Transcript NM_001134937 NP_001128409 Q6UN15 FIP1_HUMAN Homo sapiens FIP1 like 1 (S. cerevisiae) (FIP1L1), transcript variant 2, mRNA. 0 Necessary for stimulating PAPOLA activity.|Sufficient for interaction with PAPOLA. mRNA processing nucleus RNA binding large_intestine(3)|liver(1)|ovary(1)|skin(1) 6 GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134) ATGATAGTCGTTCTGCACGTG 0.303000 T PDGFRA idiopathic hypereosinophilic syndrome 3 82 0 0 1 0 0 SLC22A2 6582 broad.mit.edu 37 6 160664756 160664757 + Frame_Shift_Del DEL AT AT - TCGA-FE-A235-01A-11D-A16O-08 TCGA-FE-A235-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe317172-c1fd-4d34-a694-ef2be40ff0e4 93ec843a-30ab-4881-ac2a-7bfcd79d5e67 g.chr6:160664756_160664757delAT uc003qtf.3 - 6 1300_1301 c.1126_1127delAT c.(1126-1128)atcfs p.I376fs NM_003058 NP_003049 O15244 S22A2_HUMAN Homo sapiens solute carrier family 22 (organic cation transporter), member 2 (SLC22A2), mRNA. 376 body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion integral to plasma membrane|membrane fraction neurotransmitter transporter activity|organic cation transmembrane transporter activity breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1) 27 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06) ATCCAGGTAGATATTGTCACCT 0.535 41 56 --- --- --- --- APOA4 337 broad.mit.edu 37 11 116693873 116693873 + Frame_Shift_Del DEL A A - TCGA-FE-A235-01A-11D-A16O-08 TCGA-FE-A235-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe317172-c1fd-4d34-a694-ef2be40ff0e4 93ec843a-30ab-4881-ac2a-7bfcd79d5e67 g.chr11:116693873delA uc001pps.1 - 0 139 c.35delT c.(34-36)ctgfs p.L12fs NM_000482 NP_000473 Homo sapiens apolipoprotein A-IV (APOA4), mRNA. cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 all_hematologic(175;0.0487) Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148) GACAGCCACCAGGGCCAGGGT 0.592 107 140 --- --- --- ---