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 KIAA1429 25962 broad.mit.edu 37 8 95508670 95508670 + Missense_Mutation SNP C C A TCGA-EL-A3H4-01A-11D-A202-08 TCGA-EL-A3H4-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87a622-eaae-46ec-a95e-100c1b13cf40 0f25a77c-f63d-48e3-926d-dc04145d4501 g.chr8:95508670C>A uc003ygo.2 - 17 4340 c.4269G>T c.(4267-4269)gaG>gaT p.E1423D KIAA1429_uc010maz.2_Non-coding_Transcript NM_015496 NP_056311 Q69YN4 VIR_HUMAN Homo sapiens KIAA1429 (KIAA1429), transcript variant 1, mRNA. 1423 RNA splicing|mRNA processing nucleus NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) TATGAGCTCCCTCTACTTCCA 0.383000 3 64 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9069428 9069428 + Missense_Mutation SNP G G T TCGA-EL-A3H4-01A-11D-A202-08 TCGA-EL-A3H4-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87a622-eaae-46ec-a95e-100c1b13cf40 0f25a77c-f63d-48e3-926d-dc04145d4501 g.chr19:9069428G>T uc002mkp.3 - 2 18222 c.18018C>A c.(18016-18018)caC>caA p.H6006Q NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 6008 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TCTCTGAAAAGTGAATTGTCT 0.458000 24 153 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139164287 139164287 + Missense_Mutation SNP A A G TCGA-EL-A3H4-01A-11D-A202-08 TCGA-EL-A3H4-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87a622-eaae-46ec-a95e-100c1b13cf40 0f25a77c-f63d-48e3-926d-dc04145d4501 g.chr8:139164287A>G uc003yuy.3 - 12 2602 c.2431T>C c.(2431-2433)Tct>Cct p.S811P FAM135B_uc003yux.3_Missense_Mutation_p.S712P|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.S373P|FAM135B_uc003yvb.3_Missense_Mutation_p.S373P NM_015912 NP_056996 Q49AJ0 F135B_HUMAN Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA. 811 p.S811S(1) NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TGAGAGCAAGATCCTGGGGAA 0.532000 HNSCC(54;0.14) 4 56 0 0 1 0 0 SLC6A8 6535 broad.mit.edu 37 X 152956776 152956776 + Missense_Mutation SNP A A G TCGA-EL-A3H4-01A-11D-A202-08 TCGA-EL-A3H4-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87a622-eaae-46ec-a95e-100c1b13cf40 0f25a77c-f63d-48e3-926d-dc04145d4501 g.chrX:152956776A>G uc004fib.3 + 2 690 c.412A>G c.(412-414)Atg>Gtg p.M138V SLC6A8_uc004fic.3_Missense_Mutation_p.M138V|SLC6A8_uc011myx.1_Missense_Mutation_p.M23V|SLC6A8_uc010nuj.2_5'Flank|SLC6A8_uc010nui.1_Missense_Mutation_p.M23V NM_005629 NP_001136278 P48029 SC6A8_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, creatine), member 8 (SLC6A8), transcript variant 1, mRNA. 138 creatine metabolic process|muscle contraction integral to plasma membrane creatine:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1) 13 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) Creatine(DB00148) CTACGCCTCCATGGTGATCGT 0.607000 9 10 0 0 1 0 0 ZBTB39 9880 broad.mit.edu 37 12 57398352 57398352 + Missense_Mutation SNP G G A TCGA-EL-A3H4-01A-11D-A202-08 TCGA-EL-A3H4-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87a622-eaae-46ec-a95e-100c1b13cf40 0f25a77c-f63d-48e3-926d-dc04145d4501 g.chr12:57398352G>A uc001sml.2 - 1 503 c.350C>T c.(349-351)gCc>gTc p.A117V ZBTB39_uc021qzg.1_Missense_Mutation_p.A117V NM_014830 NP_055645 O15060 ZBT39_HUMAN Homo sapiens zinc finger and BTB domain containing 39 (ZBTB39), mRNA. 117 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1) 16 AGAGTGACAGGCCTGGAGGAG 0.557000 13 56 0 0 1 0 0 ALPK1 80216 broad.mit.edu 37 4 113353377 113353377 + Missense_Mutation SNP G G A TCGA-EL-A3H4-01A-11D-A202-08 TCGA-EL-A3H4-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87a622-eaae-46ec-a95e-100c1b13cf40 0f25a77c-f63d-48e3-926d-dc04145d4501 g.chr4:113353377G>A uc003ian.4 + 10 2901 c.2674G>A c.(2674-2676)Gta>Ata p.V892I ALPK1_uc003iap.4_Missense_Mutation_p.V892I|ALPK1_uc011cfx.2_Missense_Mutation_p.V814I|ALPK1_uc003iao.4_Intron|ALPK1_uc010imo.3_Missense_Mutation_p.V720I NM_001102406 NP_079420 Q96QP1 ALPK1_HUMAN Homo sapiens alpha-kinase 1 (ALPK1), transcript variant 2, mRNA. 892 ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1) 53 Ovarian(17;0.0446)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00325) CAATTCCTCTGTAAGCGGTAA 0.552000 6 102 0 0 1 0 0 CYLC2 1539 broad.mit.edu 37 9 105767017 105767017 + Missense_Mutation SNP C C A TCGA-EL-A3H4-01A-11D-A202-08 TCGA-EL-A3H4-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87a622-eaae-46ec-a95e-100c1b13cf40 0f25a77c-f63d-48e3-926d-dc04145d4501 g.chr9:105767017C>A uc004bbs.2 + 3 291 c.221C>A c.(220-222)cCa>cAa p.P74Q NM_001340 NP_001331 Q14093 CYLC2_HUMAN Homo sapiens cylicin, basic protein of sperm head cytoskeleton 2 (CYLC2), mRNA. 74 31 X 3 AA repeats of K-K-X. cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2) 41 all_hematologic(171;0.125) CGTAGACAACCATTATGGATG 0.378000 14 26 0 0 1 0 0 ABCC2 1244 broad.mit.edu 37 10 101596001 101596001 + Missense_Mutation SNP A A T TCGA-EL-A3H4-01A-11D-A202-08 TCGA-EL-A3H4-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87a622-eaae-46ec-a95e-100c1b13cf40 0f25a77c-f63d-48e3-926d-dc04145d4501 g.chr10:101596001A>T uc001kqf.2 + 24 3707 c.3568A>T c.(3568-3570)Att>Ttt p.I1190F NM_000392 NP_000383 Q92887 MRP2_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 2 (ABCC2), mRNA. 1190 ABC transmembrane type-1 2. apical plasma membrane|integral to plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 67 Colorectal(252;0.234) Epithelial(162;2.77e-10)|all cancers(201;2.47e-08) Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) TGAGGTGAGGATTGACACCAA 0.483000 11 64 0 0 1 0 0 RNF34 80196 broad.mit.edu 37 12 121855480 121855480 + Silent SNP C C T TCGA-EL-A3H4-01A-11D-A202-08 TCGA-EL-A3H4-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87a622-eaae-46ec-a95e-100c1b13cf40 0f25a77c-f63d-48e3-926d-dc04145d4501 g.chr12:121855480C>T uc001uak.1 + 3 579 c.402C>T c.(400-402)ccC>ccT p.P134P RNF34_uc010szw.2_Silent_p.P134P|RNF34_uc001ual.1_Silent_p.P133P NM_194271 NP_919247 Q969K3 RNF34_HUMAN Homo sapiens ring finger protein 34 (RNF34), transcript variant 1, mRNA. 133 SAP 1. apoptosis endomembrane system|membrane|nuclear speck ligase activity|zinc ion binding breast(1)|large_intestine(1) 2 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233) GAAATATACCCATAGATACTT 0.453000 4 71 0 0 1 0 0 THSD1 55901 broad.mit.edu 37 13 52952229 52952229 + Missense_Mutation SNP G G A rs144799411 by1000genomes TCGA-EL-A3H4-01A-11D-A202-08 TCGA-EL-A3H4-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87a622-eaae-46ec-a95e-100c1b13cf40 0f25a77c-f63d-48e3-926d-dc04145d4501 g.chr13:52952229G>A uc001vgo.3 - 4 2421 c.1876C>T c.(1876-1878)Cgc>Tgc p.R626C THSD1_uc001vgp.3_Missense_Mutation_p.R573C|THSD1_uc010tgz.2_Missense_Mutation_p.R247C NM_018676 NP_061146 Q9NS62 THSD1_HUMAN Homo sapiens thrombospondin, type I, domain containing 1 (THSD1), transcript variant 1, mRNA. 626 extracellular region|integral to membrane|intracellular membrane-bounded organelle breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.8e-08) TGTGACTTGCGGATCAGAGTC 0.622000 5 60 0 0 1 0 0 VAC14 55697 broad.mit.edu 37 16 70815792 70815792 + Missense_Mutation SNP G G A TCGA-EL-A3H4-01A-11D-A202-08 TCGA-EL-A3H4-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87a622-eaae-46ec-a95e-100c1b13cf40 0f25a77c-f63d-48e3-926d-dc04145d4501 g.chr16:70815792G>A uc002ezm.3 - 7 1184 c.926C>T c.(925-927)gCc>gTc p.A309V VAC14_uc010cfw.3_Missense_Mutation_p.A75V|VAC14_uc002ezn.3_Intron|TRNA_Gly_uc021tkn.1_5'Flank NM_018052 NP_060522 Q08AM6 VAC14_HUMAN Homo sapiens Vac14 homolog (S. cerevisiae) (VAC14), mRNA. 309 interspecies interaction between organisms endoplasmic reticulum|endosome membrane|microsome protein binding|receptor activity breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Ovarian(137;0.0699) GTCATCGTAGGCCAAGCAGGG 0.562000 3 69 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EL-A3H4-01A-11D-A202-08 TCGA-EL-A3H4-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87a622-eaae-46ec-a95e-100c1b13cf40 0f25a77c-f63d-48e3-926d-dc04145d4501 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 37 35 0 0 1 0 0 TMEM85 51234 broad.mit.edu 37 15 34520681 34520681 + Missense_Mutation SNP A A G TCGA-EL-A3H4-01A-11D-A202-08 TCGA-EL-A3H4-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87a622-eaae-46ec-a95e-100c1b13cf40 0f25a77c-f63d-48e3-926d-dc04145d4501 g.chr15:34520681A>G uc001zhq.3 + 3 478 c.407A>G c.(406-408)tAt>tGt p.Y136C TMEM85_uc001zhs.3_Intron NM_016454 NP_057538 Q5J8M3 TMM85_HUMAN Homo sapiens transmembrane protein 85 (TMEM85), mRNA. 136 apoptosis integral to membrane p.Y136Y(1) central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3) 7 all_lung(180;1.15e-06) all cancers(64;1.03e-17)|GBM - Glioblastoma multiforme(113;3.33e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)|Lung(196;0.217) GGTTTGGTCTATCTCATTGGG 0.443000 32 107 0 0 1 0 0 OR1N2 138882 broad.mit.edu 37 9 125316420 125316420 + Silent SNP T T C TCGA-EL-A3H4-01A-11D-A202-08 TCGA-EL-A3H4-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87a622-eaae-46ec-a95e-100c1b13cf40 0f25a77c-f63d-48e3-926d-dc04145d4501 g.chr9:125316420T>C uc011lyx.2 + 0 972 c.972T>C c.(970-972)agT>agC p.S324S NM_001004457 NP_001004457 Q8NGR9 OR1N2_HUMAN Homo sapiens olfactory receptor, family 1, subfamily N, member 2 (OR1N2), mRNA. 324 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3) 26 TTTTTGTCAGTGGAAAAACAT 0.393000 12 44 0 0 1 0 0 SLC9A9 285195 broad.mit.edu 37 3 142985759 142985759 + Nonsense_Mutation SNP C C A TCGA-EL-A3H4-01A-11D-A202-08 TCGA-EL-A3H4-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87a622-eaae-46ec-a95e-100c1b13cf40 0f25a77c-f63d-48e3-926d-dc04145d4501 g.chr3:142985759C>A uc003evn.3 - 15 1932 c.1723G>T c.(1723-1725)Gag>Tag p.E575* NM_173653 NP_775924 Q8IVB4 SL9A9_HUMAN Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 9 (SLC9A9), mRNA. 575 regulation of pH integral to membrane|late endosome membrane|recycling endosome sodium:hydrogen antiporter activity breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1) 57 ACATCATCCTCTTTTAGCTGT 0.428000 4 64 0 0 1 0 0 OR6S1 341799 broad.mit.edu 37 14 21108936 21108936 + Silent SNP C C T TCGA-EL-A3H4-01A-11D-A202-08 TCGA-EL-A3H4-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87a622-eaae-46ec-a95e-100c1b13cf40 0f25a77c-f63d-48e3-926d-dc04145d4501 g.chr14:21108936C>T uc001vxv.1 - 0 915 c.915G>A c.(913-915)aaG>aaA p.K305K NM_001001968 NP_001001968 Q8NH40 OR6S1_HUMAN Homo sapiens olfactory receptor, family 6, subfamily S, member 1 (OR6S1), mRNA. 305 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 all_cancers(95;0.00304) Epithelial(56;1.23e-06)|all cancers(55;1.01e-05) GBM - Glioblastoma multiforme(265;0.0135) TAAACATGTCCTTCAAAGCTT 0.398000 4 129 0 0 1 0 0