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 RPS6KB1 6198 broad.mit.edu 37 17 58009016 58009016 + Silent SNP G G A TCGA-EJ-5503-01A-01D-1576-08 TCGA-EJ-5503-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c002f7-e972-421a-b32d-7dd675d81931 0799b439-9364-4606-a024-7f100a249f53 g.chr17:58009016G>A ENST00000225577.4 + 7 642 c.621G>A c.(619-621)ggG>ggA p.G207G RPS6KB1_ENST00000406116.3_Silent_p.G207G|RPS6KB1_ENST00000443572.2_Silent_p.G184G|RPS6KB1_ENST00000393021.3_Silent_p.G154G NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2 NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1 P23443 KS6B1_HUMAN ribosomal protein S6 kinase, 70kDa, polypeptide 1 207 Protein kinase. apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|synapse|synaptosome ATP binding|protein binding|protein kinase activity endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 14 all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;3.57e-12)|all cancers(12;6.41e-11) TGGCTTTGGGGCATTTACATC 0.368000 4 161 0 0 1 0 0 SLFN13 146857 broad.mit.edu 37 17 33769199 33769199 + Silent SNP G G A TCGA-EJ-5503-01A-01D-1576-08 TCGA-EJ-5503-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c002f7-e972-421a-b32d-7dd675d81931 0799b439-9364-4606-a024-7f100a249f53 g.chr17:33769199G>A ENST00000285013.6 - 5 1580 c.1305C>T c.(1303-1305)tcC>tcT p.S435S SLFN13_ENST00000360502.2_Silent_p.S117S|SLFN13_ENST00000542635.1_Silent_p.S435S|SLFN13_ENST00000534689.1_Silent_p.S117S|SLFN13_ENST00000533791.1_Silent_p.S435S|SLFN13_ENST00000526861.1_Silent_p.S435S NM_144682.5 NP_653283.3 Q68D06 SLN13_HUMAN schlafen family member 13 435 intracellular ATP binding p.S435S(1) NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 31 UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) CAATTCCCTGGGAGAAAGGTC 0.488000 4 130 0 0 1 0 0 ZBTB17 7709 broad.mit.edu 37 1 16274882 16274882 + Missense_Mutation SNP C C A TCGA-EJ-5503-01A-01D-1576-08 TCGA-EJ-5503-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c002f7-e972-421a-b32d-7dd675d81931 0799b439-9364-4606-a024-7f100a249f53 g.chr1:16274882C>A ENST00000375733.2 - 3 347 c.109G>T c.(109-111)Gct>Tct p.A37S ZBTB17_ENST00000537142.1_Intron|ZBTB17_ENST00000375743.4_Missense_Mutation_p.A37S|ZBTB17_ENST00000479282.1_5'UTR|ZBTB17_ENST00000448462.2_Missense_Mutation_p.A37S Q13105 ZBT17_HUMAN zinc finger and BTB domain containing 17 37 BTB. negative regulation of cell cycle nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.A37S(1) breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2) 15 Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649) GCTTTATGAGCCTTAAAGTGA 0.572000 7 106 0.00198382 0.00239225 1 1 0 VCAN 1462 broad.mit.edu 37 5 82849208 82849208 + Nonsense_Mutation SNP G G A TCGA-EJ-5503-01A-01D-1576-08 TCGA-EJ-5503-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c002f7-e972-421a-b32d-7dd675d81931 0799b439-9364-4606-a024-7f100a249f53 g.chr5:82849208G>A ENST00000265077.3 + 11 10084 c.9519G>A c.(9517-9519)tgG>tgA p.W3173* VCAN_ENST00000343200.5_Nonsense_Mutation_p.W2186*|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000512090.1_RNA|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000342785.4_Nonsense_Mutation_p.W1419*|VCAN_ENST00000502527.2_Nonsense_Mutation_p.W432*|VCAN_ENST00000512590.2_Nonsense_Mutation_p.W1371* NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 3173 cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding p.W3173*(2) NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) ACTATGGCTGGCACAAATTCC 0.502000 4 116 0 0 1 0 0 GOLGA6L5 0 broad.mit.edu 37 15 85053142 85053142 + RNA SNP C C T TCGA-EJ-5503-01A-01D-1576-08 TCGA-EJ-5503-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c002f7-e972-421a-b32d-7dd675d81931 0799b439-9364-4606-a024-7f100a249f53 g.chr15:85053142C>T ENST00000414190.2 - 0 310 NR_003246.2 TTTTTCAATTCCTTGACCCGC 0.413000 5 19 0 0 1 0 0 ZNF212 7988 broad.mit.edu 37 7 148947631 148947631 + Missense_Mutation SNP G G A TCGA-EJ-5503-01A-01D-1576-08 TCGA-EJ-5503-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c002f7-e972-421a-b32d-7dd675d81931 0799b439-9364-4606-a024-7f100a249f53 g.chr7:148947631G>A ENST00000335870.2 + 2 534 c.406G>A c.(406-408)Gcc>Acc p.A136T NM_012256.3 NP_036388.2 Q9UDV6 ZN212_HUMAN zinc finger protein 212 136 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|identical protein binding|zinc ion binding p.A136T(1) endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1) 9 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00171) CAAGGGGGAGGCCCCCAAGGT 0.557000 14 212 0 0 1 0 0 MMP3 4314 broad.mit.edu 37 11 102709910 102709910 + Missense_Mutation SNP G G A TCGA-EJ-5503-01A-01D-1576-08 TCGA-EJ-5503-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c002f7-e972-421a-b32d-7dd675d81931 0799b439-9364-4606-a024-7f100a249f53 g.chr11:102709910G>A ENST00000299855.5 - 7 1256 c.1000C>T c.(1000-1002)Cca>Tca p.P334S NM_002422.3 NP_002413.1 P08254 MMP3_HUMAN matrix metallopeptidase 3 (stromelysin 1, progelatinase) 334 Hemopexin-like 1. collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding p.P334S(2) endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 22 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0142) Marimastat(DB00786)|Simvastatin(DB00641) GGAAGAGATGGCCAAAATGAA 0.353000 4 203 0 0 1 0 0 FAM86C2P 0 broad.mit.edu 37 11 67560706 67560706 + RNA SNP G G A TCGA-EJ-5503-01A-01D-1576-08 TCGA-EJ-5503-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c002f7-e972-421a-b32d-7dd675d81931 0799b439-9364-4606-a024-7f100a249f53 g.chr11:67560706G>A ENST00000528089.1 - 0 1044 p.T123M(1) AGTGCTCTTCGTAGGGAAACA 0.507000 6 152 0 0 1 0 0 EPB41L4A 64097 broad.mit.edu 37 5 111598235 111598235 + Missense_Mutation SNP C C T TCGA-EJ-5503-01A-01D-1576-08 TCGA-EJ-5503-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c002f7-e972-421a-b32d-7dd675d81931 0799b439-9364-4606-a024-7f100a249f53 g.chr5:111598235C>T ENST00000261486.5 - 7 874 c.598G>A c.(598-600)Gcc>Acc p.A200T NM_022140.3 NP_071423.3 Q9HCS5 E41LA_HUMAN erythrocyte membrane protein band 4.1 like 4A 200 FERM. cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding p.A200T(1) breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1) 34 all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135) OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791) AGGGATTTGGCAGTCCTCAAG 0.408000 4 242 0 0 1 0 0 H1F0 3005 broad.mit.edu 37 22 38202050 38202050 + Missense_Mutation SNP C C T TCGA-EJ-5503-01A-01D-1576-08 TCGA-EJ-5503-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c002f7-e972-421a-b32d-7dd675d81931 0799b439-9364-4606-a024-7f100a249f53 g.chr22:38202050C>T ENST00000340857.2 + 1 937 c.499C>T c.(499-501)Ccg>Tcg p.P167S NM_005318.3 NP_005309.1 P07305 H10_HUMAN H1 histone family, member 0 167 DNA fragmentation involved in apoptotic nuclear change|nucleosome assembly actin cytoskeleton|Golgi apparatus|nucleoplasm|nucleosome DNA binding p.P167S(1) cervix(1)|endometrium(1)|kidney(2)|prostate(2)|urinary_tract(1) 7 Melanoma(58;0.045) CAAAGCCAAGCCGGTCAAGGC 0.522000 3 39 0 0 1 0 0 FAM86DP 0 broad.mit.edu 37 3 75475639 75475639 + RNA SNP T T C TCGA-EJ-5503-01A-01D-1576-08 TCGA-EJ-5503-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c002f7-e972-421a-b32d-7dd675d81931 0799b439-9364-4606-a024-7f100a249f53 g.chr3:75475639T>C ENST00000459803.1 - 0 890 NR_024241.1 p.H284R(1) CTCTGGGTTGTGGACGGTAAA 0.662000 6 111 0 0 1 0 0 WHAMMP3 0 broad.mit.edu 37 15 23205108 23205108 + RNA SNP C C T TCGA-EJ-5503-01A-01D-1576-08 TCGA-EJ-5503-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c002f7-e972-421a-b32d-7dd675d81931 0799b439-9364-4606-a024-7f100a249f53 g.chr15:23205108C>T ENST00000400153.2 - 0 746 NR_003521.1 GTGGTTGCCACGGTAACTAAT 0.393000 3 30 0 0 1 0 0 NADK2 133686 broad.mit.edu 37 5 36225709 36225709 + Silent SNP C C A TCGA-EJ-5503-01A-01D-1576-08 TCGA-EJ-5503-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c002f7-e972-421a-b32d-7dd675d81931 0799b439-9364-4606-a024-7f100a249f53 g.chr5:36225709C>A ENST00000397338.1 - 4 227 c.6G>T c.(4-6)ctG>ctT p.L2L NADK2_ENST00000381937.4_Silent_p.L165L|NADK2_ENST00000514504.1_Silent_p.L165L|NADK2_ENST00000506945.1_Silent_p.L2L|NADK2_ENST00000282512.3_Silent_p.L2L NAD kinase 2, mitochondrial p.L2L(1) TCGCTGCCAGCAGCATTGTGC 0.358000 4 222 0.184627 0.204587 1 1 0 INS-IGF2 0 broad.mit.edu 37 11 2182081 2182081 + Silent SNP G G A TCGA-EJ-5503-01A-01D-1576-08 TCGA-EJ-5503-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c002f7-e972-421a-b32d-7dd675d81931 0799b439-9364-4606-a024-7f100a249f53 g.chr11:2182081G>A ENST00000397270.1 - 2 179 c.121C>T c.(121-123)Cta>Tta p.L41L INS_ENST00000250971.3_Silent_p.L41L|INS_ENST00000397262.1_Silent_p.L41L|INS_ENST00000381330.4_Silent_p.L41L|INS_ENST00000512523.1_Silent_p.L41L NM_001042376.2 NP_001035835.1 Q1WM24 Q1WM24_HUMAN 41 glucose metabolic process extracellular region hormone activity p.L41L(2) haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1) 5 all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24) Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239) BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.0832)|Lung(200;0.156) CCGCACACTAGGTAGAGAGCT 0.662000 4 91 0 0 1 0 0 OR4D5 219875 broad.mit.edu 37 11 123810566 123810566 + Missense_Mutation SNP G G T TCGA-EJ-5503-01A-01D-1576-08 TCGA-EJ-5503-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c002f7-e972-421a-b32d-7dd675d81931 0799b439-9364-4606-a024-7f100a249f53 g.chr11:123810566G>T ENST00000307033.2 + 1 317 c.243G>T c.(241-243)atG>atT p.M81I NM_001001965.1 NP_001001965.1 Q8NGN0 OR4D5_HUMAN olfactory receptor, family 4, subfamily D, member 5 81 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.M81I(1) autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) CACCTAGGATGCTGGTTGACT 0.483000 4 240 1 1 1 1 0 PCDHA3 0 broad.mit.edu 37 5 140181572 140181572 + Missense_Mutation SNP G G A TCGA-EJ-5503-01A-01D-1576-08 TCGA-EJ-5503-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c002f7-e972-421a-b32d-7dd675d81931 0799b439-9364-4606-a024-7f100a249f53 g.chr5:140181572G>A ENST00000522353.2 + 1 790 c.790G>A c.(790-792)Gtt>Att p.V264I PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.V264I|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron NM_018906.2 NP_061729.1 p.V264I(4) NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGTGGTGACCGTTAACGCCAC 0.418000 4 133 0 0 1 0 0 ABCC10 89845 broad.mit.edu 37 6 43400462 43400462 + Silent SNP C C T TCGA-EJ-5503-01A-01D-1576-08 TCGA-EJ-5503-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c002f7-e972-421a-b32d-7dd675d81931 0799b439-9364-4606-a024-7f100a249f53 g.chr6:43400462C>T ENST00000244533.3 + 1 974 c.615C>T c.(613-615)tgC>tgT p.C205C ABCC10_ENST00000372530.4_Silent_p.C248C|ABCC10_ENST00000443426.2_Intron NM_033450.2 NP_258261.2 Q5T3U5 MRP7_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 10 248 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances p.C205C(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) AGGACATTTGCCGCCTCCCCC 0.642000 3 58 0 0 1 0 0 ABCA3 21 broad.mit.edu 37 16 2354107 2354107 + Missense_Mutation SNP C C T TCGA-EJ-5503-01A-01D-1576-08 TCGA-EJ-5503-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c002f7-e972-421a-b32d-7dd675d81931 0799b439-9364-4606-a024-7f100a249f53 g.chr16:2354107C>T ENST00000301732.5 - 12 2030 c.1330G>A c.(1330-1332)Gac>Aac p.D444N ABCA3_ENST00000382381.3_Missense_Mutation_p.D386N NM_001089.2 NP_001080.2 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A (ABC1), member 3 444 response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances p.D444N(1) breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1) 70 Ovarian(90;0.17) AAGTCGTCGTCCACGTTGACG 0.632000 5 240 0 0 1 0 0 TPRN 286262 broad.mit.edu 37 9 140093678 140093678 + Missense_Mutation SNP G G A TCGA-EJ-5503-01A-01D-1576-08 TCGA-EJ-5503-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c002f7-e972-421a-b32d-7dd675d81931 0799b439-9364-4606-a024-7f100a249f53 g.chr9:140093678G>A ENST00000409012.4 - 1 1572 c.1486C>T c.(1486-1488)Cgg>Tgg p.R496W TPRN_ENST00000321773.2_Missense_Mutation_p.R435W|TPRN_ENST00000541945.1_Intron NM_001128228.2 NP_001121700.2 Q4KMQ1 TPRN_HUMAN taperin 496 sensory perception of sound stereocilium p.R190W(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2) 8 TTGCTGCCCCGGGGCTGAAGC 0.682000 3 110 0 0 1 0 0 ERCC5 2073 broad.mit.edu 37 13 103514446 103514446 + Missense_Mutation SNP G G A TCGA-EJ-5503-01A-01D-1576-08 TCGA-EJ-5503-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c002f7-e972-421a-b32d-7dd675d81931 0799b439-9364-4606-a024-7f100a249f53 g.chr13:103514446G>A ENST00000355739.4 + 8 2370 c.947G>A c.(946-948)gGc>gAc p.G316D BIVM-ERCC5_ENST00000602836.1_Silent_p.R741R NM_000123.3 NP_000114.2 excision repair cross-complementing rodent repair deficiency, complementation group 5 p.G316D(2) breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 51 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) AAAATGCACGGCATGTCTTTT 0.418000 """Mis, N, F""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 5 430 0 0 1 0 0 CALML6 163688 broad.mit.edu 37 1 1848280 1848280 + Missense_Mutation SNP G G A TCGA-EJ-5503-01A-01D-1576-08 TCGA-EJ-5503-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c002f7-e972-421a-b32d-7dd675d81931 0799b439-9364-4606-a024-7f100a249f53 g.chr1:1848280G>A ENST00000307786.3 + 4 797 c.343G>A c.(343-345)Gca>Aca p.A115T CALML6_ENST00000462293.1_3'UTR NM_138705.2 NP_619650.2 Q8TD86 CALL6_HUMAN calmodulin-like 6 115 EF-hand 3. cytoplasm|nucleus calcium ion binding p.A115T(2) NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2) 7 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;1.94e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.83e-23)|GBM - Glioblastoma multiforme(42;3.23e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199) GCTGAGGGCGGCATTCCGTGT 0.597000 4 205 0 0 1 0 0 EML5 161436 broad.mit.edu 37 14 89083083 89083083 + Missense_Mutation SNP C C T TCGA-EJ-5503-01A-01D-1576-08 TCGA-EJ-5503-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c002f7-e972-421a-b32d-7dd675d81931 0799b439-9364-4606-a024-7f100a249f53 g.chr14:89083083C>T ENST00000554922.1 - 42 6031 c.5783G>A c.(5782-5784)tGt>tAt p.C1928Y EML5_ENST00000352093.5_Missense_Mutation_p.C1882Y|EML5_ENST00000380664.5_Missense_Mutation_p.C1920Y NM_183387.2 NP_899243.1 Q05BV3 EMAL5_HUMAN echinoderm microtubule associated protein like 5 1920 K -> R (in Ref. 2; AAI50640). cytoplasm|microtubule p.C1928Y(2) breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 TTTTTCTGGACATGGGAAGTC 0.348000 4 49 0 0 1 0 0 AKAP17A 8227 broad.mit.edu 37 X 1712960 1712960 + Missense_Mutation SNP G G A TCGA-EJ-5503-01A-01D-1576-08 TCGA-EJ-5503-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c002f7-e972-421a-b32d-7dd675d81931 0799b439-9364-4606-a024-7f100a249f53 g.chrX:1712960G>A ENST00000313871.3 + 2 801 c.605G>A c.(604-606)cGc>cAc p.R202H AKAP17A_ENST00000381261.3_Missense_Mutation_p.R202H NM_005088.2 NP_005079.2 Q02040 AK17A_HUMAN A kinase (PRKA) anchor protein 17A 202 RRM. B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction nuclear speck|spliceosomal complex nucleotide binding|protein binding|RNA binding p.R202H(1) breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3) 26 ATGACGGGCCGCAACTTCCAC 0.607000 4 180 0 0 1 0 0 FAM5B 0 broad.mit.edu 37 1 177199242 177199242 + Missense_Mutation SNP G G A TCGA-EJ-5503-01A-01D-1576-08 TCGA-EJ-5503-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c002f7-e972-421a-b32d-7dd675d81931 0799b439-9364-4606-a024-7f100a249f53 g.chr1:177199242G>A ENST00000361539.4 + 2 542 c.230G>A c.(229-231)cGg>cAg p.R77Q NM_021165.2 NP_066988.1 Q9C0B6 FAM5B_HUMAN 77 extracellular region p.R77Q(1) breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 94 TTCATGGAGCGGTACCGCCAG 0.617000 5 149 0 0 1 0 0 ZPBP2 124626 broad.mit.edu 37 17 38028691 38028691 + Missense_Mutation SNP T T C TCGA-EJ-5503-01A-01D-1576-08 TCGA-EJ-5503-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c002f7-e972-421a-b32d-7dd675d81931 0799b439-9364-4606-a024-7f100a249f53 g.chr17:38028691T>C ENST00000377940.3 + 4 648 c.509T>C c.(508-510)gTt>gCt p.V170A ZPBP2_ENST00000584588.1_Intron|ZPBP2_ENST00000348931.4_Missense_Mutation_p.V192A NM_198844.2 NP_942141.2 Q6X784 ZPBP2_HUMAN zona pellucida binding protein 2 192 binding of sperm to zona pellucida extracellular region p.V192A(1) kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 15 Colorectal(19;0.000442) Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171) TGCCATTCTGTTGAAATTCCA 0.303000 3 126 0 0 1 0 0 CD200R1L 344807 broad.mit.edu 37 3 112546284 112546284 + Silent SNP G G A TCGA-EJ-5503-01A-01D-1576-08 TCGA-EJ-5503-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c002f7-e972-421a-b32d-7dd675d81931 0799b439-9364-4606-a024-7f100a249f53 g.chr3:112546284G>A ENST00000488794.1 - 5 886 c.297C>T c.(295-297)gaC>gaT p.D99D CD200R1L_ENST00000448932.1_Silent_p.D99D|CD200R1L_ENST00000398214.1_Silent_p.D120D Q6Q8B3 MO2R2_HUMAN CD200 receptor 1-like 120 Ig-like V-type. integral to membrane receptor activity p.D120D(1) breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2) 19 TGTAATACCCGTCATGAGTGG 0.463000 7 268 0 0 1 0 0 DOCK8 81704 broad.mit.edu 37 9 428369 428369 + Nonsense_Mutation SNP C C A TCGA-EJ-5503-01A-01D-1576-08 TCGA-EJ-5503-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c002f7-e972-421a-b32d-7dd675d81931 0799b439-9364-4606-a024-7f100a249f53 g.chr9:428369C>A ENST00000432829.2 + 35 4458 c.4142C>A c.(4141-4143)tCg>tAg p.S1381* DOCK8_ENST00000382329.1_Nonsense_Mutation_p.S916*|DOCK8_ENST00000469391.1_Nonsense_Mutation_p.S1349*|DOCK8_ENST00000453981.1_Nonsense_Mutation_p.S1449* NM_203447.3 NP_982272.2 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 1449 DHR-2. blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity p.S1381*(2)|p.S1449*(1) breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 65 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) CAGGCGAGCTCGGCTCTGGAC 0.502000 4 123 0.00909568 0.010359 1 1 0 HIST2H2BF 440689 broad.mit.edu 37 1 149783718 149783718 + Missense_Mutation SNP C C T TCGA-EJ-5503-01A-01D-1576-08 TCGA-EJ-5503-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c002f7-e972-421a-b32d-7dd675d81931 0799b439-9364-4606-a024-7f100a249f53 g.chr1:149783718C>T ENST00000427880.2 - 1 207 c.161G>A c.(160-162)gGc>gAc p.G54D HIST2H2BF_ENST00000369167.1_Missense_Mutation_p.G54D|HIST2H2BF_ENST00000545683.1_Missense_Mutation_p.G54D|HIST2H2BF_ENST00000469483.1_5'UTR Q5QNW6 H2B2F_HUMAN histone cluster 2, H2bf 54 nucleosome assembly nucleosome|nucleus DNA binding p.G54D(2) breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Breast(34;0.0124)|all_hematologic(923;0.127) GGACGAGATGCCGGTGTCGGG 0.597000 6 351 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-EJ-5503-01A-01D-1576-08 TCGA-EJ-5503-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c002f7-e972-421a-b32d-7dd675d81931 0799b439-9364-4606-a024-7f100a249f53 g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 5 57 0 0 1 0 0 B3GNT4 79369 broad.mit.edu 37 12 122690955 122690955 + Missense_Mutation SNP G G A TCGA-EJ-5503-01A-01D-1576-08 TCGA-EJ-5503-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c002f7-e972-421a-b32d-7dd675d81931 0799b439-9364-4606-a024-7f100a249f53 g.chr12:122690955G>A ENST00000535274.1 + 1 1809 c.82G>A c.(82-84)Gcc>Acc p.A28T B3GNT4_ENST00000324189.4_Missense_Mutation_p.A53T|B3GNT4_ENST00000546192.1_Missense_Mutation_p.A28T|B3GNT4_ENST00000545141.1_Intron Q9C0J1 B3GN4_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 53 protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity p.A53T(1) NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 13 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222) GAGGAAGGCGGCCAAGCCCGC 0.662000 4 130 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587576 43587576 + RNA SNP A A G rs145439557 by1000genomes TCGA-EJ-5503-01A-01D-1576-08 TCGA-EJ-5503-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c002f7-e972-421a-b32d-7dd675d81931 0799b439-9364-4606-a024-7f100a249f53 g.chr17:43587576A>G ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA tctgaaaagaaaagaaaaaaa 0.428000 5 70 0 0 1 0 0 ZDBF2 57683 broad.mit.edu 37 2 207169502 207169502 + Missense_Mutation SNP G G T TCGA-EJ-5503-01A-01D-1576-08 TCGA-EJ-5503-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c002f7-e972-421a-b32d-7dd675d81931 0799b439-9364-4606-a024-7f100a249f53 g.chr2:207169502G>T ENST00000374423.3 + 5 636 c.250G>T c.(250-252)Gat>Tat p.D84Y NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 84 nucleic acid binding|zinc ion binding p.D84Y(2) endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 GCATTTGGATGATGCTTTTTC 0.418000 4 121 0.00024832 0.000308519 1 1 0 TCF19 6941 broad.mit.edu 37 6 31127393 31127393 + Missense_Mutation SNP G G T TCGA-EJ-5503-01A-01D-1576-08 TCGA-EJ-5503-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c002f7-e972-421a-b32d-7dd675d81931 0799b439-9364-4606-a024-7f100a249f53 g.chr6:31127393G>T ENST00000376257.3 + 2 901 c.147G>T c.(145-147)gaG>gaT p.E49D TCF19_ENST00000376255.4_Missense_Mutation_p.E49D NM_007109.2 NP_009040.2 Q9Y242 TCF19_HUMAN transcription factor 19 49 FHA. cell proliferation|regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding p.E49D(1) kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1) 9 CCCAGCAGGAGCCTGGCCTCA 0.662000 3 46 1 1 1 1 0 MKRN3 7681 broad.mit.edu 37 15 23812105 23812105 + Missense_Mutation SNP G G T TCGA-EJ-5503-01A-01D-1576-08 TCGA-EJ-5503-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c002f7-e972-421a-b32d-7dd675d81931 0799b439-9364-4606-a024-7f100a249f53 g.chr15:23812105G>T ENST00000314520.3 + 1 1652 c.1176G>T c.(1174-1176)aaG>aaT p.K392N MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000568945.1_3'UTR|MKRN3_ENST00000564592.1_Missense_Mutation_p.K152N NM_005664.3 NP_005655.1 Q13064 MKRN3_HUMAN makorin ring finger protein 3 392 ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding p.K392N(1) breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) AGCAATACAAGGAGGCAATGA 0.502000 7 144 0.00307968 0.00360762 1 1 0 TPCN1 53373 broad.mit.edu 37 12 113704096 113704098 + In_Frame_Del DEL CTG CTG - TCGA-EJ-5503-01A-01D-1576-08 TCGA-EJ-5503-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c002f7-e972-421a-b32d-7dd675d81931 0799b439-9364-4606-a024-7f100a249f53 g.chr12:113704096_113704098delCTG ENST00000550785.1 + 5 734_736 c.565_567delCTG c.(565-567)del p.L194del TPCN1_ENST00000335509.6_In_Frame_Del_p.L122del|TPCN1_ENST00000541517.1_In_Frame_Del_p.L194del|TPCN1_ENST00000392569.4_In_Frame_Del_p.L54del NM_001143819.1 NP_001137291.1 Q9ULQ1 TPC1_HUMAN two pore segment channel 1 122 endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1) 40 GGCCACGGCCCTGCTGCTGCTGC 0.640 7 576 --- --- --- --- POLI 11201 broad.mit.edu 37 18 51795958 51795960 + In_Frame_Del DEL CGA CGA - rs140689079 TCGA-EJ-5503-01A-01D-1576-08 TCGA-EJ-5503-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c002f7-e972-421a-b32d-7dd675d81931 0799b439-9364-4606-a024-7f100a249f53 g.chr18:51795958_51795960delCGA ENST00000579534.1 + 1 185_187 c.42_44delCGA c.(40-45)ggc>gg p.GD14del POLI_ENST00000579434.1_5'UTR|POLI_ENST00000406285.3_In_Frame_Del_p.GD14del NM_007195.2 NP_009126.2 Q9UNA4 POLI_HUMAN polymerase (DNA directed) iota 14 DNA repair|DNA replication nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding p.D17delD(1) breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1) 26 Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197) AAGGCGGCGGCGACGACGACGAG 0.729 DNA polymerases (catalytic subunits) 3 3 --- --- --- --- RP13-329D4.3 0 broad.mit.edu 37 20 26113543 26113543 + RNA DEL A A - TCGA-EJ-5503-01A-01D-1576-08 TCGA-EJ-5503-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c002f7-e972-421a-b32d-7dd675d81931 0799b439-9364-4606-a024-7f100a249f53 g.chr20:26113543delA ENST00000416563.1 - 0 250 TCTTTGCCTTAACAACATTAT 0.363 4 4 --- --- --- ---