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 IL17RC 84818 broad.mit.edu 37 3 9965966 9965966 + Silent SNP C C T TCGA-EL-A3CM-01A-11D-A19J-08 TCGA-EL-A3CM-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d34d5a0d-21e2-4dfd-9ea6-a5e432ea6450 5a04fb3c-932a-4d0e-8f09-456a60b6739d g.chr3:9965966C>T ENST00000295981.3 + 9 1244 c.1026C>T c.(1024-1026)ctC>ctT p.L342L IL17RC_ENST00000383812.4_Silent_p.L256L|IL17RC_ENST00000416074.2_Silent_p.L127L|IL17RC_ENST00000403601.3_Silent_p.L271L|IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000413608.1_Silent_p.L271L|IL17RC_ENST00000455057.1_Silent_p.L256L NM_153461.3 NP_703191.1 Q8NAC3 I17RC_HUMAN interleukin 17 receptor C 342 integral to membrane|plasma membrane receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 TTCCCTGCCTCTGTATTCAGG 0.507000 3 17 0 0 0.009096 0 0 RIOK1 83732 broad.mit.edu 37 6 7393347 7393347 + Missense_Mutation SNP G G C TCGA-EL-A3CM-01A-11D-A19J-08 TCGA-EL-A3CM-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d34d5a0d-21e2-4dfd-9ea6-a5e432ea6450 5a04fb3c-932a-4d0e-8f09-456a60b6739d g.chr6:7393347G>C ENST00000379834.2 + 2 594 c.87G>C c.(85-87)ttG>ttC p.L29F NM_031480.2|NM_153005.1 NP_113668.2|NP_694550.1 Q9BRS2 RIOK1_HUMAN RIO kinase 1 29 ATP binding|protein serine/threonine kinase activity p.L22F(1) cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 19 Ovarian(93;0.0418) ACAGAGACTTGAAGACAGTCA 0.333000 4 46 0 0 0.014758 0 0 KIF23 9493 broad.mit.edu 37 15 69708349 69708349 + Missense_Mutation SNP C C T TCGA-EL-A3CM-01A-11D-A19J-08 TCGA-EL-A3CM-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d34d5a0d-21e2-4dfd-9ea6-a5e432ea6450 5a04fb3c-932a-4d0e-8f09-456a60b6739d g.chr15:69708349C>T ENST00000260363.4 + 2 145 c.28C>T c.(28-30)Cgg>Tgg p.R10W KIF23_ENST00000559279.1_Missense_Mutation_p.R10W|KIF23_ENST00000352331.4_Missense_Mutation_p.R10W|KIF23_ENST00000395392.2_Missense_Mutation_p.R10W NM_138555.2 NP_612565.1 Q02241 KIF23_HUMAN kinesin family member 23 10 Kinesin-motor. blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle ATP binding|microtubule motor activity|protein binding central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1) 21 TAAGACACCCCGGAAACCTAC 0.363000 3 16 0 0 0.004672 0 0 SLC35D2 11046 broad.mit.edu 37 9 99113432 99113432 + Silent SNP G G A TCGA-EL-A3CM-01A-11D-A19J-08 TCGA-EL-A3CM-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d34d5a0d-21e2-4dfd-9ea6-a5e432ea6450 5a04fb3c-932a-4d0e-8f09-456a60b6739d g.chr9:99113432G>A ENST00000253270.7 - 6 503 c.441C>T c.(439-441)atC>atT p.I147I SLC35D2_ENST00000375257.1_Silent_p.I147I|SLC35D2_ENST00000375259.4_Silent_p.I147I|SLC35D2_ENST00000482643.1_5'UTR NM_007001.2 NP_008932.2 Q76EJ3 S35D2_HUMAN solute carrier family 35 (UDP-GlcNAc/UDP-glucose transporter), member D2 147 Golgi membrane|integral to membrane nucleotide-sugar transmembrane transporter activity endometrium(3)|large_intestine(3)|lung(4)|skin(2) 12 Acute lymphoblastic leukemia(62;0.0167) CACTGAGGATGATGTTGAGTG 0.353000 14 23 0 0 0.003163 0 0 GPKOW 27238 broad.mit.edu 37 X 48974115 48974115 + Missense_Mutation SNP C C A TCGA-EL-A3CM-01A-11D-A19J-08 TCGA-EL-A3CM-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d34d5a0d-21e2-4dfd-9ea6-a5e432ea6450 5a04fb3c-932a-4d0e-8f09-456a60b6739d g.chrX:48974115C>A ENST00000156109.5 - 5 694 c.616G>T c.(616-618)Ggt>Tgt p.G206C NM_015698.4 NP_056513.2 Q92917 GPKOW_HUMAN G patch domain and KOW motifs 206 G-patch. nucleus nucleic acid binding breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2) 21 AGGTTGGCACCCAGCCCTAAC 0.572000 3 12 0.004672 0.00891927 0.004672 1 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EL-A3CM-01A-11D-A19J-08 TCGA-EL-A3CM-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d34d5a0d-21e2-4dfd-9ea6-a5e432ea6450 5a04fb3c-932a-4d0e-8f09-456a60b6739d g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 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(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(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 17 44 0 0 0.004007 0 0 ABCC2 1244 broad.mit.edu 37 10 101558994 101558994 + Missense_Mutation SNP G G A TCGA-EL-A3CM-01A-11D-A19J-08 TCGA-EL-A3CM-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d34d5a0d-21e2-4dfd-9ea6-a5e432ea6450 5a04fb3c-932a-4d0e-8f09-456a60b6739d g.chr10:101558994G>A ENST00000370449.4 + 8 1011 c.898G>A c.(898-900)Ggg>Agg p.G300R NM_000392.3 NP_000383.1 Q92887 MRP2_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 2 300 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) AAAGAAGTCTGGGACCAAAAA 0.418000 22 165 0 0 0.012319 0 0 DRAM1 55332 broad.mit.edu 37 12 102314992 102314992 + Splice_Site SNP A A G TCGA-EL-A3CM-01A-11D-A19J-08 TCGA-EL-A3CM-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d34d5a0d-21e2-4dfd-9ea6-a5e432ea6450 5a04fb3c-932a-4d0e-8f09-456a60b6739d g.chr12:102314992A>G ENST00000258534.8 + 7 1111 c.e7-1 DRAM1_ENST00000544152.1_Splice_Site NM_018370.2 NP_060840.2 Q8N682 DRAM1_HUMAN DNA-damage regulated autophagy modulator 1 apoptosis|autophagy integral to membrane|lysosomal membrane central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1) 12 TTTTAAAAATAGAGTGTCACC 0.373000 6 87 0 0 0.003080 0 0 ZNF207 7756 broad.mit.edu 37 17 30687676 30687676 + Missense_Mutation SNP G G A TCGA-EL-A3CM-01A-11D-A19J-08 TCGA-EL-A3CM-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d34d5a0d-21e2-4dfd-9ea6-a5e432ea6450 5a04fb3c-932a-4d0e-8f09-456a60b6739d g.chr17:30687676G>A ENST00000394670.4 + 4 536 c.367G>A c.(367-369)Gcc>Acc p.A123T ZNF207_ENST00000394673.2_Missense_Mutation_p.A123T|RP11-227G15.3_ENST00000581915.1_RNA|ZNF207_ENST00000342555.6_Missense_Mutation_p.A126T|ZNF207_ENST00000577908.1_Missense_Mutation_p.A123T|ZNF207_ENST00000321233.6_Missense_Mutation_p.A123T|ZNF207_ENST00000341711.6_Intron NM_001098507.1 NP_001091977.1 O43670 ZN207_HUMAN zinc finger protein 207 123 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2) 10 Breast(31;0.116)|Ovarian(249;0.182) BRCA - Breast invasive adenocarcinoma(9;0.239) CGACTCTGCAGCCTCAACTTC 0.398000 3 32 0 0 0.009096 0 0 IGHG3 0 broad.mit.edu 37 14 106235888 106235888 + RNA SNP G G A TCGA-EL-A3CM-01A-11D-A19J-08 TCGA-EL-A3CM-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d34d5a0d-21e2-4dfd-9ea6-a5e432ea6450 5a04fb3c-932a-4d0e-8f09-456a60b6739d g.chr14:106235888G>A ENST00000390551.2 - 0 818 TGTGGTTCTCGGGGCTGTCCT 0.632000 6 126 0 0 0.001168 0 0 ABCC8 6833 broad.mit.edu 37 11 17432134 17432134 + Silent SNP G G A TCGA-EL-A3CM-01A-11D-A19J-08 TCGA-EL-A3CM-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d34d5a0d-21e2-4dfd-9ea6-a5e432ea6450 5a04fb3c-932a-4d0e-8f09-456a60b6739d g.chr11:17432134G>A ENST00000302539.4 - 22 2751 c.2626C>T c.(2626-2628)Ctg>Ttg p.L876L ABCC8_ENST00000389817.3_Silent_p.L875L NM_000352.3 NP_000343.2 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 8 875 ABC transporter 1. carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) TCCCGGAGCAGCTCAAGGATG 0.562000 6 83 0 0 0.001168 0 0 SNX2 6643 broad.mit.edu 37 5 122131017 122131017 + Missense_Mutation SNP C C A TCGA-EL-A3CM-01A-11D-A19J-08 TCGA-EL-A3CM-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d34d5a0d-21e2-4dfd-9ea6-a5e432ea6450 5a04fb3c-932a-4d0e-8f09-456a60b6739d g.chr5:122131017C>A ENST00000379516.2 + 2 273 c.165C>A c.(163-165)aaC>aaA p.N55K SNX2_ENST00000514949.1_5'UTR NM_003100.2 NP_003091.2 O60749 SNX2_HUMAN sorting nexin 2 55 cell communication|endocytosis|intracellular protein transport early endosome membrane phosphatidylinositol binding|protein binding|protein transporter activity NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)|skin(1) 19 all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137) all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109) TTAGTGCAAACTCCAATGGCC 0.353000 4 85 0.000602214 0.00120443 0.014758 1 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664606 22664606 + RNA SNP A A G TCGA-EL-A3CM-01A-11D-A19J-08 TCGA-EL-A3CM-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d34d5a0d-21e2-4dfd-9ea6-a5e432ea6450 5a04fb3c-932a-4d0e-8f09-456a60b6739d g.chr22:22664606A>G ENST00000426066.1 + 0 787 NR_027293.1 GTCTTCATGCAAACTTGGTAT 0.398000 3 15 0 0 0.009096 0 0 SYCP2L 221711 broad.mit.edu 37 6 10894210 10894210 + Missense_Mutation SNP A A T TCGA-EL-A3CM-01A-11D-A19J-08 TCGA-EL-A3CM-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d34d5a0d-21e2-4dfd-9ea6-a5e432ea6450 5a04fb3c-932a-4d0e-8f09-456a60b6739d g.chr6:10894210A>T ENST00000283141.6 + 3 485 c.189A>T c.(187-189)ttA>ttT p.L63F SYCP2L_ENST00000543878.1_5'UTR|RP11-637O19.3_ENST00000480294.1_3'UTR NM_001040274.2 NP_001035364.2 Q5T4T6 SYC2L_HUMAN synaptonemal complex protein 2-like 63 nucleus breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 36 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) Epithelial(50;0.239) GTCTTCTATTATACCGTCTTG 0.294000 7 24 0 0 0.008291 0 0 CIT 11113 broad.mit.edu 37 12 120263094 120263094 + Missense_Mutation SNP C C T TCGA-EL-A3CM-01A-11D-A19J-08 TCGA-EL-A3CM-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d34d5a0d-21e2-4dfd-9ea6-a5e432ea6450 5a04fb3c-932a-4d0e-8f09-456a60b6739d g.chr12:120263094C>T ENST00000392521.2 - 8 887 c.832G>A c.(832-834)Ggc>Agc p.G278S CIT_ENST00000261833.7_Missense_Mutation_p.G278S NM_001206999.1 NP_001193928.1 O14578 CTRO_HUMAN citron (rho-interacting, serine/threonine kinase 21) 278 Protein kinase. intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 86 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) CCGTAGGTGCCTTTTCCATCC 0.527000 6 74 0 0 0.001984 0 0 RAD54L2 23132 broad.mit.edu 37 3 51664942 51664942 + Missense_Mutation SNP C C A TCGA-EL-A3CM-01A-11D-A19J-08 TCGA-EL-A3CM-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d34d5a0d-21e2-4dfd-9ea6-a5e432ea6450 5a04fb3c-932a-4d0e-8f09-456a60b6739d g.chr3:51664942C>A ENST00000409535.1 + 6 945 c.820C>A c.(820-822)Cat>Aat p.H274N RAD54L2_ENST00000296477.3_5'UTR NM_015106.2 NP_055921.2 Q9Y4B4 ARIP4_HUMAN RAD54-like 2 (S. cerevisiae) 274 nucleus ATP binding|DNA binding|helicase activity NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2) 31 BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896) TGTGAAACCTCATCAGGTACA 0.512000 10 26 3.07112e-06 6.78879e-06 0.010729 1 0 IL16 3603 broad.mit.edu 37 15 81592023 81592023 + Missense_Mutation SNP G G A TCGA-EL-A3CM-01A-11D-A19J-08 TCGA-EL-A3CM-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d34d5a0d-21e2-4dfd-9ea6-a5e432ea6450 5a04fb3c-932a-4d0e-8f09-456a60b6739d g.chr15:81592023G>A ENST00000394660.2 + 14 2716 c.2356G>A c.(2356-2358)Gct>Act p.A786T IL16_ENST00000394652.2_Missense_Mutation_p.A85T|IL16_ENST00000302987.4_Missense_Mutation_p.A786T|IL16_ENST00000560230.1_3'UTR NM_001172128.1|NM_172217.3 NP_001165599.1|NP_757366.2 Q14005 IL16_HUMAN interleukin 16 786 immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|extracellular space|nucleus|plasma membrane cytokine activity NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1) 57 TCCTCCTGTGGCTCCCAAGCC 0.572000 11 49 0 0 0.016723 0 0 LA16c-306E5.3 0 broad.mit.edu 37 16 3546140 3546141 + RNA INS - - A rs74546027 TCGA-EL-A3CM-01A-11D-A19J-08 TCGA-EL-A3CM-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d34d5a0d-21e2-4dfd-9ea6-a5e432ea6450 5a04fb3c-932a-4d0e-8f09-456a60b6739d g.chr16:3546140_3546141insA ENST00000574423.2 + 0 111 gactccgtctcaaaaaaaaaaa 0.559 2 4 --- --- --- --- POLDIP2 26073 broad.mit.edu 37 17 26684394 26684395 + Splice_Site INS - - G rs113730440 TCGA-EL-A3CM-01A-11D-A19J-08 TCGA-EL-A3CM-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d34d5a0d-21e2-4dfd-9ea6-a5e432ea6450 5a04fb3c-932a-4d0e-8f09-456a60b6739d g.chr17:26684394_26684395insG ENST00000540200.1 - 1 78 c.e1+1 POLDIP2_ENST00000003607.4_5'UTR NM_015584.3 NP_056399.1 Q9Y2S7 PDIP2_HUMAN polymerase (DNA-directed), delta interacting protein 2 mitochondrial nucleoid|nucleus all_lung(13;0.000354)|Lung NSC(42;0.00115) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) AGAGCGGCTTTGCCACCGGGCC 0.762 2 4 --- --- --- --- IRS4 8471 broad.mit.edu 37 X 107977802 107977803 + Frame_Shift_Ins INS - - C TCGA-EL-A3CM-01A-11D-A19J-08 TCGA-EL-A3CM-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d34d5a0d-21e2-4dfd-9ea6-a5e432ea6450 5a04fb3c-932a-4d0e-8f09-456a60b6739d g.chrX:107977802_107977803insC ENST00000372129.2 - 1 1848_1849 c.1772_1773insG c.(1771-1773)gaafs p.E591fs NM_003604.2 NP_003595.1 O14654 IRS4_HUMAN insulin receptor substrate 4 591 plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1) 78 CTGAGCCTTTGCCCCCCCCAGA 0.545 7 300 --- --- --- ---