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 TANC1 85461 broad.mit.edu 37 2 160087162 160087162 + Missense_Mutation SNP G G A TCGA-DE-A3KN-01A-11D-A20C-08 TCGA-DE-A3KN-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f 1c6abcc3-1a61-441a-921d-6d06f762c1a3 g.chr2:160087162G>A ENST00000263635.6 + 27 5462 c.5225G>A c.(5224-5226)cGc>cAc p.R1742H TANC1_ENST00000454300.1_Missense_Mutation_p.R1636H NM_001145909.1|NM_033394.2 NP_001139381.1|NP_203752.2 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 1742 cell junction|postsynaptic density|postsynaptic membrane binding breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 77 CCTCCAAGCCGCAGCTGGCAC 0.582000 4 150 0 0 0.184627 0 0 ARFIP2 23647 broad.mit.edu 37 11 6499070 6499070 + Missense_Mutation SNP G G C TCGA-DE-A3KN-01A-11D-A20C-08 TCGA-DE-A3KN-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f 1c6abcc3-1a61-441a-921d-6d06f762c1a3 g.chr11:6499070G>C ENST00000254584.2 - 7 831 c.748C>G c.(748-750)Cgg>Ggg p.R250G ARFIP2_ENST00000445086.2_Missense_Mutation_p.R165G|ARFIP2_ENST00000423813.2_Missense_Mutation_p.R212G|ARFIP2_ENST00000396777.3_Missense_Mutation_p.R250G NM_012402.3 NP_036534.1 P53365 ARFP2_HUMAN ADP-ribosylation factor interacting protein 2 250 AH. actin cytoskeleton organization|cellular component movement|lamellipodium assembly|ruffle organization|small GTPase mediated signal transduction cell cortex|plasma membrane|ruffle GTP binding|GTP-dependent protein binding|Rac GTPase binding endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2) 15 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) CCTGCATCCCGGGGGCCTAGA 0.572000 3 123 0 0 0.150653 0 0 PLCD3 113026 broad.mit.edu 37 17 43197710 43197710 + Silent SNP G G A TCGA-DE-A3KN-01A-11D-A20C-08 TCGA-DE-A3KN-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f 1c6abcc3-1a61-441a-921d-6d06f762c1a3 g.chr17:43197710G>A ENST00000322765.5 - 4 779 c.666C>T c.(664-666)taC>taT p.Y222Y PLCD3_ENST00000540511.1_5'UTR NM_133373.3 NP_588614.1 Q8N3E9 PLCD3_HUMAN phospholipase C, delta 3 222 EF-hand 2. intracellular signal transduction|lipid catabolic process cleavage furrow|cytoplasm|membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2) 17 Phosphatidylserine(DB00144) GGAGGTAGGCGTACATGTCGT 0.577000 3 30 0 0 0.115264 0 0 SEMG1 6406 broad.mit.edu 37 20 43836817 43836817 + Silent SNP A A G rs17850164 TCGA-DE-A3KN-01A-11D-A20C-08 TCGA-DE-A3KN-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f 1c6abcc3-1a61-441a-921d-6d06f762c1a3 g.chr20:43836817A>G ENST00000372781.3 + 2 936 c.879A>G c.(877-879)acA>acG p.T293T SEMG1_ENST00000244069.6_Intron NM_003007.3 NP_002998.1 semenogelin I p.T293T(2) cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1) 32 Myeloproliferative disorder(115;0.0122) CTTCAAGTACAGAAGAAAGAC 0.383000 3 61 0 0 0.150653 0 0 PTH2 113091 broad.mit.edu 37 19 49926533 49926533 + Missense_Mutation SNP G G C TCGA-DE-A3KN-01A-11D-A20C-08 TCGA-DE-A3KN-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f 1c6abcc3-1a61-441a-921d-6d06f762c1a3 g.chr19:49926533G>C ENST00000270631.1 - 1 165 c.64C>G c.(64-66)Ctg>Gtg p.L22V NM_178449.3 NP_848544.1 Q96A98 TIP39_HUMAN parathyroid hormone 2 22 neuropeptide signaling pathway extracellular region p.L22V(2) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836) GGCACCACcagcagcagcagc 0.692000 4 47 0 0 0.184627 0 0 VCAN 1462 broad.mit.edu 37 5 82816691 82816691 + Missense_Mutation SNP C C G TCGA-DE-A3KN-01A-11D-A20C-08 TCGA-DE-A3KN-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f 1c6abcc3-1a61-441a-921d-6d06f762c1a3 g.chr5:82816691C>G ENST00000265077.3 + 7 3131 c.2566C>G c.(2566-2568)Ctt>Gtt p.L856V VCAN_ENST00000342785.4_Missense_Mutation_p.L856V|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.L808V NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 856 GAG-alpha (glucosaminoglycan attachment domain). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding 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) TGAATTTACTCTTATTCCAGA 0.408000 40 84 0 0 0.847076 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102509075 102509075 + Missense_Mutation SNP G G A TCGA-DE-A3KN-01A-11D-A20C-08 TCGA-DE-A3KN-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f 1c6abcc3-1a61-441a-921d-6d06f762c1a3 g.chr14:102509075G>A ENST00000360184.4 + 69 12667 c.12503G>A c.(12502-12504)cGg>cAg p.R4168Q RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 4168 AAA 6 (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 CCCGTCTCACGGATATGCAAG 0.577000 35 45 0 0 0.819951 0 0 MLLT3 4300 broad.mit.edu 37 9 20414298 20414298 + Silent SNP A A G rs143254940 byFrequency TCGA-DE-A3KN-01A-11D-A20C-08 TCGA-DE-A3KN-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f 1c6abcc3-1a61-441a-921d-6d06f762c1a3 g.chr9:20414298A>G ENST00000380338.4 - 5 832 c.546T>C c.(544-546)agT>agC p.S182S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S179S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 182 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.522000 T MLL ALL 4 57 0 0 0.184627 0 0 SLITRK1 114798 broad.mit.edu 37 13 84455509 84455509 + Missense_Mutation SNP T T C TCGA-DE-A3KN-01A-11D-A20C-08 TCGA-DE-A3KN-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f 1c6abcc3-1a61-441a-921d-6d06f762c1a3 g.chr13:84455509T>C ENST00000377084.2 - 1 1019 c.134A>G c.(133-135)aAg>aGg p.K45R NM_052910.1 NP_443142.1 Q96PX8 SLIK1_HUMAN SLIT and NTRK-like family, member 1 45 LRRNT. integral to membrane p.K45fs*64(1) NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) TGTGAAGCCCTTTTTTTCACA 0.463000 3 107 0 0 0.115264 0 0 SEC63 11231 broad.mit.edu 37 6 108230223 108230223 + Missense_Mutation SNP C C T TCGA-DE-A3KN-01A-11D-A20C-08 TCGA-DE-A3KN-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f 1c6abcc3-1a61-441a-921d-6d06f762c1a3 g.chr6:108230223C>T ENST00000369002.4 - 8 820 c.641G>A c.(640-642)cGc>cAc p.R214H NM_007214.4 NP_009145.1 Q9UGP8 SEC63_HUMAN SEC63 homolog (S. cerevisiae) 214 SEC63 1. protein folding|protein targeting to membrane endoplasmic reticulum membrane|integral to membrane heat shock protein binding|receptor activity|unfolded protein binding endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294) BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054) GCGTATTGAGCGATACCACCA 0.363000 3 32 0 0 0.115264 0 0 KAAG1 353219 broad.mit.edu 37 6 24358038 24358038 + Silent SNP C C T TCGA-DE-A3KN-01A-11D-A20C-08 TCGA-DE-A3KN-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f 1c6abcc3-1a61-441a-921d-6d06f762c1a3 g.chr6:24358038C>T ENST00000274766.1 + 1 908 c.171C>T c.(169-171)tcC>tcT p.S57S DCDC2_ENST00000378454.3_5'UTR NM_181337.3 NP_851854.1 Q9UBP8 KAAG1_HUMAN kidney associated antigen 1 57 immune response central_nervous_system(1)|lung(1)|prostate(1) 3 CTCCGCTGTCCCAGCGGCCTC 0.672000 5 47 0 0 0.184627 0 0 LRRC55 219527 broad.mit.edu 37 11 56950058 56950058 + Missense_Mutation SNP C C G TCGA-DE-A3KN-01A-11D-A20C-08 TCGA-DE-A3KN-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f 1c6abcc3-1a61-441a-921d-6d06f762c1a3 g.chr11:56950058C>G ENST00000497933.1 + 1 838 c.691C>G c.(691-693)Ctg>Gtg p.L231V NM_001005210.2 NP_001005210.1 Q6ZSA7 LRC55_HUMAN leucine rich repeat containing 55 201 LRRCT. integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2) 25 CCTACCGGGGCTGGTGACCCT 0.642000 72 138 0 0 0.870114 0 0 CCDC15 80071 broad.mit.edu 37 11 124857495 124857495 + Missense_Mutation SNP A A C rs113451248 TCGA-DE-A3KN-01A-11D-A20C-08 TCGA-DE-A3KN-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f 1c6abcc3-1a61-441a-921d-6d06f762c1a3 g.chr11:124857495A>C ENST00000529051.1 + 8 1632 c.1373A>C c.(1372-1374)cAc>cCc p.H458P CCDC15_ENST00000344762.5_Missense_Mutation_p.H458P Q0P6D6 CCD15_HUMAN coiled-coil domain containing 15 458 centrosome central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1) 23 all_hematologic(175;0.215) Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413) CATGTTCTCCACAAAGACCAA 0.418000 4 93 0 0 0.150653 0 0 HMOX2 3163 broad.mit.edu 37 16 4558163 4558163 + Missense_Mutation SNP G G C TCGA-DE-A3KN-01A-11D-A20C-08 TCGA-DE-A3KN-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f 1c6abcc3-1a61-441a-921d-6d06f762c1a3 g.chr16:4558163G>C ENST00000570646.1 + 4 1259 c.654G>C c.(652-654)agG>agC p.R218S HMOX2_ENST00000458134.3_Missense_Mutation_p.R218S|HMOX2_ENST00000219700.6_Missense_Mutation_p.R218S|HMOX2_ENST00000575120.1_Missense_Mutation_p.R189S|HMOX2_ENST00000406590.2_Missense_Mutation_p.R218S|HMOX2_ENST00000398595.3_Missense_Mutation_p.R218S|HMOX2_ENST00000414777.1_Missense_Mutation_p.R218S NM_002134.3 NP_002125.3 P30519 HMOX2_HUMAN heme oxygenase (decycling) 2 218 cellular iron ion homeostasis|heme catabolic process|heme oxidation|response to hypoxia|transmembrane transport endoplasmic reticulum membrane|microsome|plasma membrane electron carrier activity|heme oxygenase (decyclizing) activity|metal ion binding|protein binding endometrium(1)|large_intestine(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 8 NADH(DB00157) CCAAAGAGAGGATCGTGGAGG 0.522000 29 65 0 0 0.729181 0 0 PLXNB1 5364 broad.mit.edu 37 3 48453906 48453906 + Missense_Mutation SNP G G C TCGA-DE-A3KN-01A-11D-A20C-08 TCGA-DE-A3KN-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f 1c6abcc3-1a61-441a-921d-6d06f762c1a3 g.chr3:48453906G>C ENST00000358536.4 - 26 5247 c.4978C>G c.(4978-4980)Ctc>Gtc p.L1660V PLXNB1_ENST00000456774.1_Missense_Mutation_p.L1477V|PLXNB1_ENST00000448774.2_Missense_Mutation_p.L271V|PLXNB1_ENST00000296440.6_Missense_Mutation_p.L1660V|PLXNB1_ENST00000358459.4_Missense_Mutation_p.L1477V NM_002673.4 NP_002664.2 O43157 PLXB1_HUMAN plexin B1 1660 axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) AGGTCACTGAGCAGAGTGCGG 0.607000 38 113 0 0 0.870114 0 0 ASL 435 broad.mit.edu 37 7 65557066 65557066 + Missense_Mutation SNP G G A TCGA-DE-A3KN-01A-11D-A20C-08 TCGA-DE-A3KN-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f 1c6abcc3-1a61-441a-921d-6d06f762c1a3 g.chr7:65557066G>A ENST00000304874.9 + 15 1238 c.1136G>A c.(1135-1137)cGc>cAc p.R379H ASL_ENST00000464970.1_3'UTR|ASL_ENST00000395332.3_Missense_Mutation_p.R379H|ASL_ENST00000380839.4_Missense_Mutation_p.R353H|ASL_ENST00000395331.3_Missense_Mutation_p.R359H|AC068533.7_ENST00000450043.1_Silent_p.P147P NM_000048.3 NP_000039.2 P04424 ARLY_HUMAN argininosuccinate lyase 379 R -> C (in ARGINSA; dbSNP:rs28940287). arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle cytosol argininosuccinate lyase activity p.R379L(1) breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1) 18 L-Arginine(DB00125) TACCTGGTCCGCAAAGGGGTA 0.637000 5 275 0 0 0.248553 0 0 RBM27 54439 broad.mit.edu 37 5 145649072 145649072 + Missense_Mutation SNP G G T TCGA-DE-A3KN-01A-11D-A20C-08 TCGA-DE-A3KN-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f 1c6abcc3-1a61-441a-921d-6d06f762c1a3 g.chr5:145649072G>T ENST00000265271.5 + 17 2782 c.2616G>T c.(2614-2616)aaG>aaT p.K872N RBM27_ENST00000506502.1_Missense_Mutation_p.K817N NM_018989.1 NP_061862.1 Q9P2N5 RBM27_HUMAN RNA binding motif protein 27 872 mRNA processing cytoplasm|nuclear speck nucleotide binding|RNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TTGGAGAGAAGATCTCACAAT 0.299000 3 47 0.115264 0.132997 0.115264 1 0 WDR45B 56270 broad.mit.edu 37 17 80574465 80574465 + Missense_Mutation SNP T T C TCGA-DE-A3KN-01A-11D-A20C-08 TCGA-DE-A3KN-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f 1c6abcc3-1a61-441a-921d-6d06f762c1a3 g.chr17:80574465T>C ENST00000392325.4 - 9 1057 c.863A>G c.(862-864)aAg>aGg p.K288R WDR45B_ENST00000571835.1_5'UTR NM_019613.3 NP_062559.2 WD repeat domain 45B AACCTGAAACTTGGAGAAACT 0.493000 3 101 0 0 0.150653 0 0 MYC 4609 broad.mit.edu 37 8 128752882 128752882 + Missense_Mutation SNP T T C TCGA-DE-A3KN-01A-11D-A20C-08 TCGA-DE-A3KN-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f 1c6abcc3-1a61-441a-921d-6d06f762c1a3 g.chr8:128752882T>C ENST00000377970.2 + 3 1553 c.1043T>C c.(1042-1044)cTg>cCg p.L348P MYC_ENST00000524013.1_Missense_Mutation_p.L347P NM_002467.4 NP_002458.2 P01106 MYC_HUMAN v-myc avian myelocytomatosis viral oncogene homolog 333 branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug nucleolus|nucleoplasm E-box binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 16 all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185) Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22) Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151) KIRC - Kidney renal clear cell carcinoma(542;0.248) GTCAGAGTCCTGAGACAGATC 0.572000 3 """A, T""" """IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@""" """Burkitt lymphoma, amplified in other cancers, B-CLL""" 3 77 0 0 0.115264 0 0 WNK1 65125 broad.mit.edu 37 12 994570 994570 + Missense_Mutation SNP C C G TCGA-DE-A3KN-01A-11D-A20C-08 TCGA-DE-A3KN-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f 1c6abcc3-1a61-441a-921d-6d06f762c1a3 g.chr12:994570C>G ENST00000537687.1 + 19 6023 c.5380C>G c.(5380-5382)Cat>Gat p.H1794D WNK1_ENST00000535572.1_Missense_Mutation_p.H1287D|WNK1_ENST00000340908.4_Missense_Mutation_p.H1127D|WNK1_ENST00000530271.2_Missense_Mutation_p.H2032D|WNK1_ENST00000315939.6_Missense_Mutation_p.H1534D NM_001184985.1|NM_213655.4 NP_001171914.1|NP_998820.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 1534 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) TAAGACATCTCATAGCAGTAC 0.483000 7 689 0 0 0.361761 0 0 DOCK7 85440 broad.mit.edu 37 1 63113974 63113974 + Missense_Mutation SNP G G A TCGA-DE-A3KN-01A-11D-A20C-08 TCGA-DE-A3KN-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f 1c6abcc3-1a61-441a-921d-6d06f762c1a3 g.chr1:63113974G>A ENST00000251157.5 - 6 568 c.535C>T c.(535-537)Cgt>Tgt p.R179C DOCK7_ENST00000404627.2_Missense_Mutation_p.R179C|DOCK7_ENST00000340370.5_Missense_Mutation_p.R179C NM_001271999.1 NP_001258928.1 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 179 activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 92 GACATTGAACGTCTTTTAAGG 0.299000 25 74 0 0 0.740014 0 0 RIMS2 9699 broad.mit.edu 37 8 105261745 105261745 + Missense_Mutation SNP A A G TCGA-DE-A3KN-01A-11D-A20C-08 TCGA-DE-A3KN-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f 1c6abcc3-1a61-441a-921d-6d06f762c1a3 g.chr8:105261745A>G ENST00000507740.1 + 20 3298 c.3062A>G c.(3061-3063)aAg>aGg p.K1021R RIMS2_ENST00000436393.2_Missense_Mutation_p.K1225R|RIMS2_ENST00000339750.2_Missense_Mutation_p.K143R|RIMS2_ENST00000262231.10_Missense_Mutation_p.K1046R|RIMS2_ENST00000406091.3_Missense_Mutation_p.K1207R NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 1269 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) ATGGACAAAAAGGGACAGCTG 0.403000 HNSCC(12;0.0054) 3 81 0 0 0.115264 0 0 ZNF761 388561 broad.mit.edu 37 19 53958910 53958910 + RNA SNP A A G TCGA-DE-A3KN-01A-11D-A20C-08 TCGA-DE-A3KN-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f 1c6abcc3-1a61-441a-921d-6d06f762c1a3 g.chr19:53958910A>G ENST00000454407.1 + 0 1602 Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K329K(1) 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) AACCCTACAAATGTAATGAGT 0.413000 4 293 0 0 0.278610 0 0 C7orf55-LUC7L2 0 broad.mit.edu 37 7 139094365 139094366 + Frame_Shift_Del DEL AG AG - TCGA-DE-A3KN-01A-11D-A20C-08 TCGA-DE-A3KN-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f 1c6abcc3-1a61-441a-921d-6d06f762c1a3 g.chr7:139094365_139094366delAG ENST00000354926.4 + 7 1098_1099 c.744_745delAG c.(742-747)gaagfs p.EE248fs C7orf55-LUC7L2_ENST00000541170.3_Frame_Shift_Del_p.EE245fs|LUC7L2_ENST00000541515.3_Frame_Shift_Del_p.EE314fs|C7orf55-LUC7L2_ENST00000263545.6_Frame_Shift_Del_p.EE247fs NM_016019.3 NP_057103.2 AACGAAGAGAAGAGAGAGAGAG 0.391 10 46 --- --- --- --- PDZD7 79955 broad.mit.edu 37 10 102778754 102778754 + Frame_Shift_Del DEL C C - TCGA-DE-A3KN-01A-11D-A20C-08 TCGA-DE-A3KN-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f 1c6abcc3-1a61-441a-921d-6d06f762c1a3 g.chr10:102778754delC ENST00000370215.3 - 8 1374 c.1149delG c.(1147-1149)tgfs p.W383fs NM_024895.4 NP_079171.1 Q9H5P4 PDZD7_HUMAN PDZ domain containing 7 383 cilium|nucleus protein binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 Epithelial(162;6.98e-09)|all cancers(201;3.55e-07) GCACGCTGCACCAGGTCTCCA 0.741 OREG0020453 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 2 4 --- --- --- --- AP003068.23 0 broad.mit.edu 37 11 64949149 64949150 + Translation_Start_Site INS - - C TCGA-DE-A3KN-01A-11D-A20C-08 TCGA-DE-A3KN-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f 1c6abcc3-1a61-441a-921d-6d06f762c1a3 g.chr11:64949149_64949150insC ENST00000526623.1 - 0 155_156 CAPN1_ENST00000533820.1_Intron agcccccccatccccccccgcg 0.718 2 4 --- --- --- --- RP11-867G2.8 0 broad.mit.edu 37 11 94373825 94373827 + RNA DEL ACC ACC - rs112219584 TCGA-DE-A3KN-01A-11D-A20C-08 TCGA-DE-A3KN-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f 1c6abcc3-1a61-441a-921d-6d06f762c1a3 g.chr11:94373825_94373827delACC ENST00000536540.1 - 0 437 RP11-867G2.5_ENST00000438416.2_lincRNA|RP11-867G2.8_ENST00000537874.1_RNA tgcttggaagaccaccaccacca 0.557 3 5 --- --- --- --- SOX21 11166 broad.mit.edu 37 13 95363807 95363809 + In_Frame_Del DEL GCG GCG - TCGA-DE-A3KN-01A-11D-A20C-08 TCGA-DE-A3KN-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f 1c6abcc3-1a61-441a-921d-6d06f762c1a3 g.chr13:95363807_95363809delGCG ENST00000376945.2 - 1 580_582 c.495_497delCGC c.(493-498)gcg>gc p.AA165del NM_007084.2 NP_009015.1 Q9Y651 SOX21_HUMAN SRY (sex determining region Y)-box 21 165 regulation of transcription from RNA polymerase II promoter|stem cell differentiation nucleus DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity large_intestine(3)|lung(1)|prostate(1)|skin(1) 6 all_neural(89;0.0646)|Medulloblastoma(90;0.163) GGGGCTGCCCgcggcggcggcgg 0.759 2 4 --- --- --- --- CTD-2033D24.2 0 broad.mit.edu 37 17 53627633 53627633 + RNA DEL T T - TCGA-DE-A3KN-01A-11D-A20C-08 TCGA-DE-A3KN-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f 1c6abcc3-1a61-441a-921d-6d06f762c1a3 g.chr17:53627633delT ENST00000455347.1 - 0 135 TGATTGTCTCTTTTTTTTACC 0.373 4 8 --- --- --- --- CLIC6 54102 broad.mit.edu 37 21 36042463 36042492 + In_Frame_Del DEL GCGTAGAAGCGGGGGTCCCGGCGGGGGACA GCGTAGAAGCGGGGGTCCCGGCGGGGGACA - rs62213790 by1000genomes TCGA-DE-A3KN-01A-11D-A20C-08 TCGA-DE-A3KN-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f 1c6abcc3-1a61-441a-921d-6d06f762c1a3 g.chr21:36042463_36042492delGCGTAGAAGCGGGGGTCCCGGCGGGGGACA ENST00000360731.3 + 1 776_805 c.776_805delGCGTAGAAGCGGGGGTCCCGGCGGGGGACA c.(775-807)ggc>g p.GVEAGVPAGDS259del CLIC6_ENST00000349499.2_In_Frame_Del_p.GVEAGVPAGDS259del Q96NY7 CLIC6_HUMAN chloride intracellular channel 6 259 13 X 10 AA tandem repeat of G-D-[SNG]- [VIM]-[DEQ]-A-[EAG]-[GDVE]-[PRG]-[LAVP]. chloride channel complex|cytoplasm|plasma membrane voltage-gated chloride channel activity p.S269G(1) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 19 GCGGGGGACGGCGTAGAAGCGGGGGTCCCGGCGGGGGACAGCGTAGAAGC 0.761 2 4 --- --- --- ---