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 KIAA1755 85449 broad.mit.edu 37 20 36869018 36869018 + Silent SNP A A G TCGA-RW-A68G-01A-11D-A35D-08 TCGA-RW-A68G-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3090bbdb-582e-46bd-ab43-41c968f4be0c 323d00c1-97c4-48fa-8dd1-6b48bb588fcc g.chr20:36869018A>G ENST00000279024.4 - 3 1786 c.1515T>C c.(1513-1515)tcT>tcC p.S505S NM_001029864.1 NP_001025035.1 Q5JYT7 K1755_HUMAN KIAA1755 505 breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1) 54 Myeloproliferative disorder(115;0.00874) TGGGTTTAGGAGAGTAGAGGG 0.507000 5 88 0 0 1 0 0 NBEA 26960 broad.mit.edu 37 13 35644944 35644944 + Missense_Mutation SNP T T C TCGA-RW-A68G-01A-11D-A35D-08 TCGA-RW-A68G-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3090bbdb-582e-46bd-ab43-41c968f4be0c 323d00c1-97c4-48fa-8dd1-6b48bb588fcc g.chr13:35644944T>C ENST00000400445.3 + 10 2060 c.1526T>C c.(1525-1527)tTg>tCg p.L509S NBEA_ENST00000310336.4_Missense_Mutation_p.L509S|NBEA_ENST00000540320.1_Missense_Mutation_p.L509S|NBEA_ENST00000379939.2_Missense_Mutation_p.L509S NM_015678.4 NP_056493.3 Q8NFP9 NBEA_HUMAN neurobeachin 509 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) TTTGCCCAATTGGATAATAGG 0.363000 11 58 0 0 1 0 0 LRRC37BP1 147172 broad.mit.edu 37 17 28960263 28960263 + RNA SNP C C T TCGA-RW-A68G-01A-11D-A35D-08 TCGA-RW-A68G-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3090bbdb-582e-46bd-ab43-41c968f4be0c 323d00c1-97c4-48fa-8dd1-6b48bb588fcc g.chr17:28960263C>T ENST00000417404.1 + 0 1124 SMURF2P1_ENST00000578265.1_RNA|LRRC37BP1_ENST00000412831.1_RNA AAGCTCATGTCGCGAACAGGC 0.443000 3 46 0 0 1 0 0 TSPAN13 27075 broad.mit.edu 37 7 16818665 16818665 + Missense_Mutation SNP C C T TCGA-RW-A68G-01A-11D-A35D-08 TCGA-RW-A68G-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3090bbdb-582e-46bd-ab43-41c968f4be0c 323d00c1-97c4-48fa-8dd1-6b48bb588fcc g.chr7:16818665C>T ENST00000262067.4 + 5 897 c.464C>T c.(463-465)gCt>gTt p.A155V TSPAN13_ENST00000466195.1_3'UTR NM_014399.3 NP_055214.1 O95857 TSN13_HUMAN tetraspanin 13 155 integral to plasma membrane|membrane fraction autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)|stomach(1) 7 Lung NSC(10;0.0494)|all_lung(11;0.109) UCEC - Uterine corpus endometrioid carcinoma (126;0.188) TCGCCATGTGCTCCAATCATA 0.358000 17 58 0 0 1 0 0 DHRS4 10901 broad.mit.edu 37 14 24424420 24424420 + Splice_Site SNP C C T TCGA-RW-A68G-01A-11D-A35D-08 TCGA-RW-A68G-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3090bbdb-582e-46bd-ab43-41c968f4be0c 323d00c1-97c4-48fa-8dd1-6b48bb588fcc g.chr14:24424420C>T ENST00000313250.5 + 2 508 c.306_splice c.e2+1 p.T102_splice DHRS4_ENST00000397073.2_Splice_Site_p.T84_splice|DHRS4_ENST00000308178.8_Splice_Site_p.T84_splice|DHRS4_ENST00000397074.3_Splice_Site_p.T102_splice|DHRS4_ENST00000397075.3_Splice_Site_p.T102_splice|DHRS4_ENST00000558263.1_Splice_Site_p.T102_splice|DHRS4_ENST00000558581.1_Splice_Site_p.T102_splice|DHRS4_ENST00000382761.3_Splice_Site_p.T84_splice|DHRS4_ENST00000543741.2_Splice_Site_p.T102_splice|DHRS4_ENST00000559632.1_Splice_Site_p.T102_splice|DHRS4_ENST00000421831.1_Splice_Site_p.T84_splice NM_021004.2 NP_066284.2 Q9BTZ2 DHRS4_HUMAN dehydrogenase/reductase (SDR family) member 4 102 T -> M (in Ref. 1; AAD02292). mitochondrion|nuclear membrane|peroxisome binding|carbonyl reductase (NADPH) activity p.T102M(4) central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 GBM - Glioblastoma multiforme(265;0.00962) Vitamin A(DB00162) CTGGTGGCCACGGTGAGCTGC 0.652000 3 17 0 0 1 0 0 RAD51AP2 729475 broad.mit.edu 37 2 17696549 17696549 + Missense_Mutation SNP T T C TCGA-RW-A68G-01A-11D-A35D-08 TCGA-RW-A68G-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3090bbdb-582e-46bd-ab43-41c968f4be0c 323d00c1-97c4-48fa-8dd1-6b48bb588fcc g.chr2:17696549T>C ENST00000399080.2 - 1 3157 c.3134A>G c.(3133-3135)cAa>cGa p.Q1045R NM_001099218.2 NP_001092688.1 Q09MP3 R51A2_HUMAN RAD51 associated protein 2 1045 endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) AAATAAACTTTGGTGACTTTT 0.358000 4 60 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145296418 145296418 + Missense_Mutation SNP C C T TCGA-RW-A68G-01A-11D-A35D-08 TCGA-RW-A68G-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3090bbdb-582e-46bd-ab43-41c968f4be0c 323d00c1-97c4-48fa-8dd1-6b48bb588fcc g.chr1:145296418C>T ENST00000342960.5 + 3 375 c.340C>T c.(340-342)Cgg>Tgg p.R114W NBPF10_ENST00000369338.1_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 114 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) GGAGAAGTTACGGGAAGGGAG 0.522000 5 324 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-RW-A68G-01A-11D-A35D-08 TCGA-RW-A68G-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3090bbdb-582e-46bd-ab43-41c968f4be0c 323d00c1-97c4-48fa-8dd1-6b48bb588fcc g.chr1:145367739A>G ENST00000342960.5 + 83 10370 c.10335A>G c.(10333-10335)aaA>aaG p.K3445K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3445 p.K3445K(4) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ggaaggggaaaaaaagaaggg 0.413000 5 119 0 0 1 0 0 LOC645752 645752 broad.mit.edu 37 15 78208916 78208916 + RNA SNP C C G rs56290535 by1000genomes TCGA-RW-A68G-01A-11D-A35D-08 TCGA-RW-A68G-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3090bbdb-582e-46bd-ab43-41c968f4be0c 323d00c1-97c4-48fa-8dd1-6b48bb588fcc g.chr15:78208916C>G ENST00000565869.1 + 0 53 TCCAGATGTTCTCCTCCATCT 0.627000 4 56 0 0 1 0 0 HSPA1L 3305 broad.mit.edu 37 6 31779583 31779583 + Missense_Mutation SNP G G A TCGA-RW-A68G-01A-11D-A35D-08 TCGA-RW-A68G-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3090bbdb-582e-46bd-ab43-41c968f4be0c 323d00c1-97c4-48fa-8dd1-6b48bb588fcc g.chr6:31779583G>A ENST00000375654.4 - 2 356 c.167C>T c.(166-168)gCg>gTg p.A56V HSPA1L_ENST00000417199.3_Missense_Mutation_p.A56V NM_005527.3 NP_005518.3 P34931 HS71L_HUMAN heat shock 70kDa protein 1-like 56 response to unfolded protein ATP binding breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 GTTCTTGGCCGCATCCCCAAT 0.532000 4 115 0 0 1 0 0 NOMO1 23420 broad.mit.edu 37 16 14972620 14972620 + Missense_Mutation SNP T T C TCGA-RW-A68G-01A-11D-A35D-08 TCGA-RW-A68G-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3090bbdb-582e-46bd-ab43-41c968f4be0c 323d00c1-97c4-48fa-8dd1-6b48bb588fcc g.chr16:14972620T>C ENST00000287667.7 + 23 2857 c.2686T>C c.(2686-2688)Tcc>Ccc p.S896P NM_014287.3 NP_055102.3 Q15155 NOMO1_HUMAN NODAL modulator 1 896 integral to membrane carbohydrate binding|carboxypeptidase activity|protein binding endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2) 30 AGTCCTCTTATCCCTGAGCGG 0.498000 16 160 0 0 1 0 0 CDH11 1009 broad.mit.edu 37 16 65038741 65038741 + Frame_Shift_Del DEL A A - TCGA-RW-A68G-01A-11D-A35D-08 TCGA-RW-A68G-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3090bbdb-582e-46bd-ab43-41c968f4be0c 323d00c1-97c4-48fa-8dd1-6b48bb588fcc g.chr16:65038741delA ENST00000394156.3 - 3 485 c.32delT c.(31-33)cgfs p.L11fs CDH11_ENST00000569624.1_5'UTR|CDH11_ENST00000566827.1_Intron|CDH11_ENST00000268603.4_Frame_Shift_Del_p.L11fs P55287 CAD11_HUMAN cadherin 11, type 2, OB-cadherin (osteoblast) 11 adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2) 88 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) CAGGCACACCAGGGCGGCTTG 0.597 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 2 4 --- --- --- ---