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 HNRNPR 10236 broad.mit.edu 37 1 23637361 23637361 + Silent SNP G G C TCGA-KC-A7F3-01A-21D-A33T-08 TCGA-KC-A7F3-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcdd04ee-ff3e-4fa3-8115-4c94b0af9170 45a165ad-d560-4ed7-87ac-056436c3d192 g.chr1:23637361G>C ENST00000478691.1 - 10 1465 c.1194C>G c.(1192-1194)ggC>ggG p.G398G HNRNPR_ENST00000606561.1_Silent_p.G357G|HNRNPR_ENST00000374616.3_Silent_p.G499G|HNRNPR_ENST00000476660.1_5'UTR|HNRNPR_ENST00000374612.1_Silent_p.G496G|HNRNPR_ENST00000302271.6_Silent_p.G496G|HNRNPR_ENST00000426846.2_Silent_p.G336G|HNRNPR_ENST00000427764.2_Silent_p.G458G NM_001102397.1|NM_001102399.1 NP_001095867.1|NP_001095869.1 O43390 HNRPR_HUMAN heterogeneous nuclear ribonucleoprotein R 496 RRM 3. catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19) ttactGCATAGCCATCATCAT 0.498 27 67 --- --- --- --- ZEB2 9839 broad.mit.edu 37 2 145157536 145157536 + Silent SNP T T C TCGA-KC-A7F3-01A-21D-A33T-08 TCGA-KC-A7F3-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcdd04ee-ff3e-4fa3-8115-4c94b0af9170 45a165ad-d560-4ed7-87ac-056436c3d192 g.chr2:145157536T>C ENST00000558170.2 - 8 2402 c.1218A>G c.(1216-1218)acA>acG p.T406T ZEB2_ENST00000539609.3_Silent_p.T382T|ZEB2_ENST00000409487.3_Silent_p.T406T|ZEB2_ENST00000303660.4_Silent_p.T406T NM_014795.3 NP_055610.1 O60315 ZEB2_HUMAN zinc finger E-box binding homeobox 2 406 cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 107 BRCA - Breast invasive adenocarcinoma(221;0.112) TAAACCCGTGTGTAGCCATAA 0.433 5 87 --- --- --- --- FIGN 55137 broad.mit.edu 37 2 164466569 164466569 + Silent SNP G G C TCGA-KC-A7F3-01A-21D-A33T-08 TCGA-KC-A7F3-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcdd04ee-ff3e-4fa3-8115-4c94b0af9170 45a165ad-d560-4ed7-87ac-056436c3d192 g.chr2:164466569G>C ENST00000333129.3 - 3 2087 c.1773C>G c.(1771-1773)ctC>ctG p.L591L FIGN_ENST00000409634.1_Intron NM_018086.2 NP_060556.2 Q5HY92 FIGN_HUMAN fidgetin 591 nuclear matrix ATP binding|nucleoside-triphosphatase activity breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1) 47 CTTGAGAGGAGAGAAGCATGT 0.468 7 57 --- --- --- --- NOSTRIN 115677 broad.mit.edu 37 2 169716116 169716116 + Missense_Mutation SNP G G T TCGA-KC-A7F3-01A-21D-A33T-08 TCGA-KC-A7F3-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcdd04ee-ff3e-4fa3-8115-4c94b0af9170 45a165ad-d560-4ed7-87ac-056436c3d192 g.chr2:169716116G>T ENST00000444448.2 + 16 1795 c.1319G>T c.(1318-1320)tGt>tTt p.C440F NOSTRIN_ENST00000421711.2_Missense_Mutation_p.C355F|NOSTRIN_ENST00000397206.2_Missense_Mutation_p.C305F|NOSTRIN_ENST00000445023.2_Missense_Mutation_p.C305F|NOSTRIN_ENST00000397209.2_Missense_Mutation_p.C355F|NOSTRIN_ENST00000458381.2_Missense_Mutation_p.C440F|NOSTRIN_ENST00000317647.7_Missense_Mutation_p.C383F Q8IVI9 NOSTN_HUMAN nitric oxide synthase trafficking 383 SH3. endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane protein binding kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 9 AGCCATCCTTGTAGTAATTCC 0.433 4 98 --- --- --- --- NCKAP1 10787 broad.mit.edu 37 2 183847593 183847593 + Silent SNP A A G TCGA-KC-A7F3-01A-21D-A33T-08 TCGA-KC-A7F3-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcdd04ee-ff3e-4fa3-8115-4c94b0af9170 45a165ad-d560-4ed7-87ac-056436c3d192 g.chr2:183847593A>G ENST00000361354.4 - 12 1536 c.1164T>C c.(1162-1164)caT>caC p.H388H NCKAP1_ENST00000360982.2_Silent_p.H394H NM_013436.3 NP_038464.1 Q9Y2A7 NCKP1_HUMAN NCK-associated protein 1 apoptosis|central nervous system development integral to membrane|lamellipodium membrane protein binding breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 45 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) TGTTATCTGCATGACGAAGTA 0.313 12 56 --- --- --- --- BRPF1 7862 broad.mit.edu 37 3 9780727 9780727 + Missense_Mutation SNP A A G TCGA-KC-A7F3-01A-21D-A33T-08 TCGA-KC-A7F3-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcdd04ee-ff3e-4fa3-8115-4c94b0af9170 45a165ad-d560-4ed7-87ac-056436c3d192 g.chr3:9780727A>G ENST00000383829.2 + 3 1048 c.644A>G c.(643-645)tAt>tGt p.Y215C BRPF1_ENST00000424362.1_Missense_Mutation_p.Y215C|BRPF1_ENST00000457855.1_Missense_Mutation_p.Y215C|BRPF1_ENST00000302054.3_Missense_Mutation_p.Y215C|BRPF1_ENST00000433861.2_Missense_Mutation_p.Y215C NM_001003694.1 NP_001003694.1 P55201 BRPF1_HUMAN bromodomain and PHD finger containing, 1 215 Interaction with MYST3 and MYST4. histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane DNA binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 49 Medulloblastoma(99;0.227) GAAGTAGAGTATGACATGGAC 0.498 8 43 --- --- --- --- RPL15 6138 broad.mit.edu 37 3 23960791 23960791 + Silent SNP C C T TCGA-KC-A7F3-01A-21D-A33T-08 TCGA-KC-A7F3-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcdd04ee-ff3e-4fa3-8115-4c94b0af9170 45a165ad-d560-4ed7-87ac-056436c3d192 g.chr3:23960791C>T ENST00000307839.5 + 4 1053 c.414C>T c.(412-414)ttC>ttT p.F138F RPL15_ENST00000415719.1_Silent_p.F138F|RPL15_ENST00000413699.1_Silent_p.F138F|RPL15_ENST00000456530.2_Intron|RPL15_ENST00000354811.5_Silent_p.F138F|NKIRAS1_ENST00000421515.2_Intron|RPL15_ENST00000435882.1_Silent_p.F138F NM_001253379.1|NM_001253380.1|NM_002948.3 NP_001240308.1|NP_001240309.1|NP_002939.2 P61313 RL15_HUMAN ribosomal protein L15 138 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|ribosome RNA binding|structural constituent of ribosome endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1) 7 TTGATCCATTCCATAAAGCTA 0.493 10 48 --- --- --- --- PCDH18 54510 broad.mit.edu 37 4 138452902 138452902 + Missense_Mutation SNP G G A TCGA-KC-A7F3-01A-21D-A33T-08 TCGA-KC-A7F3-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcdd04ee-ff3e-4fa3-8115-4c94b0af9170 45a165ad-d560-4ed7-87ac-056436c3d192 g.chr4:138452902G>A ENST00000344876.4 - 1 727 c.341C>T c.(340-342)cCc>cTc p.P114L PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.P114L|PCDH18_ENST00000507846.1_Intron NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 114 Cadherin 1. brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) ATGCTCTGTGGGTAGAGTGAT 0.408 4 136 --- --- --- --- CEP44 80817 broad.mit.edu 37 4 175225405 175225405 + Missense_Mutation SNP C C T TCGA-KC-A7F3-01A-21D-A33T-08 TCGA-KC-A7F3-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcdd04ee-ff3e-4fa3-8115-4c94b0af9170 45a165ad-d560-4ed7-87ac-056436c3d192 g.chr4:175225405C>T ENST00000503780.1 + 6 806 c.392C>T c.(391-393)tCa>tTa p.S131L CEP44_ENST00000426172.1_Missense_Mutation_p.S131L|CEP44_ENST00000296519.4_Missense_Mutation_p.S131L|CEP44_ENST00000457424.2_Missense_Mutation_p.S131L NM_001040157.2 NP_001035247.1 Q9C0F1 CEP44_HUMAN centrosomal protein 44kDa 131 centrosome|midbody|spindle pole endometrium(2)|large_intestine(4)|lung(5)|stomach(1) 12 TAGATTCCATCACAACAAAGA 0.303 9 51 --- --- --- --- ANKHD1 54882 broad.mit.edu 37 5 139905804 139905804 + Silent SNP G G A TCGA-KC-A7F3-01A-21D-A33T-08 TCGA-KC-A7F3-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcdd04ee-ff3e-4fa3-8115-4c94b0af9170 45a165ad-d560-4ed7-87ac-056436c3d192 g.chr5:139905804G>A ENST00000297183.6 + 26 4840 c.4716G>A c.(4714-4716)aaG>aaA p.K1572K ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.K1572K|ANKHD1_ENST00000544120.1_5'UTR|ANKHD1_ENST00000360839.2_Silent_p.K1572K NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCCAACAAAAGGCAGATAAAA 0.393 4 190 --- --- --- --- TAAR6 319100 broad.mit.edu 37 6 132891765 132891765 + Missense_Mutation SNP G G A TCGA-KC-A7F3-01A-21D-A33T-08 TCGA-KC-A7F3-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcdd04ee-ff3e-4fa3-8115-4c94b0af9170 45a165ad-d560-4ed7-87ac-056436c3d192 g.chr6:132891765G>A ENST00000275198.1 + 1 305 c.305G>A c.(304-306)aGg>aAg p.R102K NM_175067.1 NP_778237.1 Q96RI8 TAAR6_HUMAN trace amine associated receptor 6 102 plasma membrane G-protein coupled receptor activity cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 41 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792) TATTTTGGGAGGAGTTTTTGT 0.493 23 92 --- --- --- --- HECA 51696 broad.mit.edu 37 6 139487664 139487664 + Missense_Mutation SNP C C T TCGA-KC-A7F3-01A-21D-A33T-08 TCGA-KC-A7F3-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcdd04ee-ff3e-4fa3-8115-4c94b0af9170 45a165ad-d560-4ed7-87ac-056436c3d192 g.chr6:139487664C>T ENST00000367658.2 + 2 800 c.515C>T c.(514-516)gCc>gTc p.A172V RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA NM_016217.2 NP_057301.1 Q9UBI9 HDC_HUMAN headcase homolog (Drosophila) 172 respiratory tube development endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1) 15 GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387) TACGACCTGGCCTTCCGCTTC 0.572 22 70 --- --- --- --- MLLT4 4301 broad.mit.edu 37 6 168352505 168352505 + Nonsense_Mutation SNP C C T TCGA-KC-A7F3-01A-21D-A33T-08 TCGA-KC-A7F3-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcdd04ee-ff3e-4fa3-8115-4c94b0af9170 45a165ad-d560-4ed7-87ac-056436c3d192 g.chr6:168352505C>T ENST00000366806.2 + 30 4592 c.4450C>T c.(4450-4452)Cag>Tag p.Q1484* MLLT4_ENST00000400822.3_Nonsense_Mutation_p.Q1483*|MLLT4_ENST00000351017.4_Nonsense_Mutation_p.Q1491*|MLLT4_ENST00000344191.4_Nonsense_Mutation_p.Q1484*|MLLT4_ENST00000392108.3_Nonsense_Mutation_p.Q1484*|MLLT4_ENST00000447894.2_Nonsense_Mutation_p.Q1484*|MLLT4_ENST00000392112.1_Nonsense_Mutation_p.Q1467* P55196 AFAD_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 1484 adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction adherens junction|cell-cell junction|cytosol|nucleus protein C-terminus binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(66;1.07e-05)|Ovarian(120;0.024) Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117) GCTGCAGCCTCAGCAGCAGCC 0.597 T MLL AL 19 106 --- --- --- --- RADIL 55698 broad.mit.edu 37 7 4874799 4874799 + Silent SNP G G A TCGA-KC-A7F3-01A-21D-A33T-08 TCGA-KC-A7F3-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcdd04ee-ff3e-4fa3-8115-4c94b0af9170 45a165ad-d560-4ed7-87ac-056436c3d192 g.chr7:4874799G>A ENST00000399583.3 - 4 1042 c.855C>T c.(853-855)agC>agT p.S285S RADIL_ENST00000538469.1_Silent_p.S45S|RADIL_ENST00000536091.1_Silent_p.S285S NM_018059.4 NP_060529.4 Q96JH8 RADIL_HUMAN Ras association and DIL domains 285 cell adhesion|multicellular organismal development|signal transduction protein binding NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15) AGAGGCTGATGCTGGGCTTGC 0.692 4 15 --- --- --- --- FAM188B 84182 broad.mit.edu 37 7 30818114 30818114 + Missense_Mutation SNP A A G TCGA-KC-A7F3-01A-21D-A33T-08 TCGA-KC-A7F3-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcdd04ee-ff3e-4fa3-8115-4c94b0af9170 45a165ad-d560-4ed7-87ac-056436c3d192 g.chr7:30818114A>G ENST00000265299.6 + 2 207 c.130A>G c.(130-132)Aga>Gga p.R44G INMT-FAM188B_ENST00000458257.1_3'UTR NM_032222.2 NP_115598.2 Q4G0A6 F188B_HUMAN family with sequence similarity 188, member B 44 endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CATAAACAACAGAAATGATCT 0.448 17 61 --- --- --- --- PAX4 5078 broad.mit.edu 37 7 127253123 127253123 + Missense_Mutation SNP G G C TCGA-KC-A7F3-01A-21D-A33T-08 TCGA-KC-A7F3-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcdd04ee-ff3e-4fa3-8115-4c94b0af9170 45a165ad-d560-4ed7-87ac-056436c3d192 g.chr7:127253123G>C ENST00000341640.2 - 6 849 c.644C>G c.(643-645)gCc>gGc p.A215G PAX4_ENST00000378740.2_Missense_Mutation_p.A215G|PAX4_ENST00000338516.3_Missense_Mutation_p.A223G|PAX4_ENST00000463946.1_Missense_Mutation_p.A213G NM_006193.2 NP_006184.2 O43316 PAX4_HUMAN paired box 4 223 cell differentiation|endocrine pancreas development|organ morphogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 ACGCCATTTGGCTCTTCTGTT 0.522 18 44 --- --- --- --- VPS28 51160 broad.mit.edu 37 8 145649503 145649503 + Silent SNP G G A TCGA-KC-A7F3-01A-21D-A33T-08 TCGA-KC-A7F3-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcdd04ee-ff3e-4fa3-8115-4c94b0af9170 45a165ad-d560-4ed7-87ac-056436c3d192 g.chr8:145649503G>A ENST00000377348.2 - 9 558 c.469C>T c.(469-471)Ctg>Ttg p.L157L VPS28_ENST00000292510.4_Silent_p.L157L|VPS28_ENST00000526054.1_Silent_p.L157L|VPS28_ENST00000529182.1_Silent_p.L157L NM_183057.1 NP_898880.1 Q9UK41 VPS28_HUMAN vacuolar protein sorting 28 homolog (S. cerevisiae) 157 VPS28 C-terminal. cellular membrane organization|endosome transport|negative regulation of protein ubiquitination|protein transport cytosol|late endosome membrane|plasma membrane protein binding kidney(1)|large_intestine(1)|lung(4)|prostate(1) 7 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) AGCTCTCGCAGGTCGGGCTGG 0.677 3 54 --- --- --- --- SPATA31D1 389763 broad.mit.edu 37 9 84606322 84606322 + Missense_Mutation SNP C C G TCGA-KC-A7F3-01A-21D-A33T-08 TCGA-KC-A7F3-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcdd04ee-ff3e-4fa3-8115-4c94b0af9170 45a165ad-d560-4ed7-87ac-056436c3d192 g.chr9:84606322C>G ENST00000344803.2 + 4 984 c.937C>G c.(937-939)Cag>Gag p.Q313E NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 CACTGTGACTCAGTCTAAATC 0.478 82 169 --- --- --- --- TMEM72 643236 broad.mit.edu 37 10 45430339 45430339 + Missense_Mutation SNP G G T TCGA-KC-A7F3-01A-21D-A33T-08 TCGA-KC-A7F3-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcdd04ee-ff3e-4fa3-8115-4c94b0af9170 45a165ad-d560-4ed7-87ac-056436c3d192 g.chr10:45430339G>T ENST00000544540.1 + 4 715 c.231G>T c.(229-231)aaG>aaT p.K77N TMEM72-AS1_ENST00000450287.2_RNA A0PK05 TMM72_HUMAN transmembrane protein 72 195 integral to membrane breast(2)|kidney(1)|large_intestine(2)|lung(10) 15 GGACTAAGAAGCCCAGTGCCC 0.582 5 171 --- --- --- --- NLRP14 338323 broad.mit.edu 37 11 7060028 7060028 + Missense_Mutation SNP G G A TCGA-KC-A7F3-01A-21D-A33T-08 TCGA-KC-A7F3-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcdd04ee-ff3e-4fa3-8115-4c94b0af9170 45a165ad-d560-4ed7-87ac-056436c3d192 g.chr11:7060028G>A ENST00000299481.4 + 2 557 c.211G>A c.(211-213)Gcc>Acc p.A71T NM_176822.3 NP_789792.1 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 71 DAPIN. cell differentiation|multicellular organismal development|spermatogenesis ATP binding breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 21 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) AGGAGAGAAAGCCTGGAGTGT 0.483 6 34 --- --- --- --- FGF4 2249 broad.mit.edu 37 11 69588217 69588217 + Missense_Mutation SNP G G T rs140567674 byFrequency TCGA-KC-A7F3-01A-21D-A33T-08 TCGA-KC-A7F3-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcdd04ee-ff3e-4fa3-8115-4c94b0af9170 45a165ad-d560-4ed7-87ac-056436c3d192 g.chr11:69588217G>T ENST00000168712.1 - 3 799 c.481C>A c.(481-483)Ctc>Atc p.L161I FGF4_ENST00000538040.1_5'UTR NM_002007.2 NP_001998.1 P08620 FGF4_HUMAN fibroblast growth factor 4 161 cell-cell signaling|chondroblast differentiation|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade extracellular region growth factor activity|heparin binding lung(3) 3 Melanoma(5;1.89e-05) LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278) Pentosan Polysulfate(DB00686) TTGGGAAGGAGAATCTCCTTG 0.567 5 116 --- --- --- --- GPR83 10888 broad.mit.edu 37 11 94113908 94113908 + Missense_Mutation SNP C C A TCGA-KC-A7F3-01A-21D-A33T-08 TCGA-KC-A7F3-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcdd04ee-ff3e-4fa3-8115-4c94b0af9170 45a165ad-d560-4ed7-87ac-056436c3d192 g.chr11:94113908C>A ENST00000243673.2 - 4 850 c.679G>T c.(679-681)Gac>Tac p.D227Y GPR83_ENST00000539203.2_Missense_Mutation_p.D185Y NM_016540.3 NP_057624.3 Q9NYM4 GPR83_HUMAN G protein-coupled receptor 83 227 integral to membrane|plasma membrane neuropeptide Y receptor activity NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) TCAGGGAAGTCTGGCAGGCAG 0.567 12 36 --- --- --- --- SLC38A6 145389 broad.mit.edu 37 14 61503802 61503802 + Silent SNP C C T TCGA-KC-A7F3-01A-21D-A33T-08 TCGA-KC-A7F3-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcdd04ee-ff3e-4fa3-8115-4c94b0af9170 45a165ad-d560-4ed7-87ac-056436c3d192 g.chr14:61503802C>T ENST00000354886.2 + 7 672 c.508C>T c.(508-510)Cta>Tta p.L170L SLC38A6_ENST00000267488.4_Silent_p.L170L|SLC38A6_ENST00000456840.2_Silent_p.L147L NM_001172702.1 NP_001166173.1 Q8IZM9 S38A6_HUMAN solute carrier family 38, member 6 170 amino acid transport|sodium ion transport integral to membrane central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(108;0.0981) TGGACAAACACTACTAATAAT 0.358 6 62 --- --- --- --- TTLL5 23093 broad.mit.edu 37 14 76349085 76349085 + Missense_Mutation SNP G G A TCGA-KC-A7F3-01A-21D-A33T-08 TCGA-KC-A7F3-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcdd04ee-ff3e-4fa3-8115-4c94b0af9170 45a165ad-d560-4ed7-87ac-056436c3d192 g.chr14:76349085G>A ENST00000298832.9 + 30 3785 c.3580G>A c.(3580-3582)Gca>Aca p.A1194T TTLL5_ENST00000554510.1_Missense_Mutation_p.A703T|TTLL5_ENST00000557636.1_Missense_Mutation_p.A1209T|TTLL5_ENST00000556893.1_Missense_Mutation_p.A745T NM_015072.4 NP_055887.3 Q6EMB2 TTLL5_HUMAN tubulin tyrosine ligase-like family, member 5 1194 protein modification process|transcription, DNA-dependent centrosome|cilium|microtubule basal body|nucleus tubulin-tyrosine ligase activity NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2) 50 BRCA - Breast invasive adenocarcinoma(234;0.029) GAATAATGGTGCAGGTTGTAG 0.453 17 60 --- --- --- --- NRDE2 55051 broad.mit.edu 37 14 90770672 90770672 + Missense_Mutation SNP T T C TCGA-KC-A7F3-01A-21D-A33T-08 TCGA-KC-A7F3-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcdd04ee-ff3e-4fa3-8115-4c94b0af9170 45a165ad-d560-4ed7-87ac-056436c3d192 g.chr14:90770672T>C ENST00000354366.3 - 5 844 c.612A>G c.(610-612)atA>atG p.I204M NRDE2_ENST00000357904.3_De_novo_Start_InFrame NM_017970.3 NP_060440.2 NRDE-2, necessary for RNA interference, domain containing CTTCCCAAGATATGCACTGCT 0.413 11 46 --- --- --- --- WIPI1 55062 broad.mit.edu 37 17 66440641 66440641 + Silent SNP G G A TCGA-KC-A7F3-01A-21D-A33T-08 TCGA-KC-A7F3-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcdd04ee-ff3e-4fa3-8115-4c94b0af9170 45a165ad-d560-4ed7-87ac-056436c3d192 g.chr17:66440641G>A ENST00000262139.5 - 4 422 c.423C>T c.(421-423)aaC>aaT p.N141N WIPI1_ENST00000589459.1_5'UTR|WIPI1_ENST00000546360.1_Silent_p.N59N NM_017983.5 NP_060453.3 Q5MNZ9 WIPI1_HUMAN WD repeat domain, phosphoinositide interacting 1 141 macroautophagy|vesicle targeting, trans-Golgi to endosome autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 18 CACCTGTTGGGTTTGCAGGAA 0.423 19 53 --- --- --- --- C17orf80 55028 broad.mit.edu 37 17 71232290 71232290 + Silent SNP G G T TCGA-KC-A7F3-01A-21D-A33T-08 TCGA-KC-A7F3-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcdd04ee-ff3e-4fa3-8115-4c94b0af9170 45a165ad-d560-4ed7-87ac-056436c3d192 g.chr17:71232290G>T ENST00000359042.2 + 3 863 c.669G>T c.(667-669)gtG>gtT p.V223V C17orf80_ENST00000426147.2_Silent_p.V223V|C17orf80_ENST00000577615.1_Silent_p.V223V|FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000535032.2_Silent_p.V223V|C17orf80_ENST00000582793.1_Intron|C17orf80_ENST00000268942.8_Silent_p.V223V|C17orf80_ENST00000255557.4_Silent_p.V223V NM_017941.4 NP_060411 Q9BSJ5 CQ080_HUMAN chromosome 17 open reading frame 80 223 integral to membrane kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2) 14 LUSC - Lung squamous cell carcinoma(166;0.197) TACTAGATGTGCCTACTGGTG 0.388 9 53 --- --- --- --- C17orf80 55028 broad.mit.edu 37 17 71232291 71232291 + Missense_Mutation SNP C C T TCGA-KC-A7F3-01A-21D-A33T-08 TCGA-KC-A7F3-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcdd04ee-ff3e-4fa3-8115-4c94b0af9170 45a165ad-d560-4ed7-87ac-056436c3d192 g.chr17:71232291C>T ENST00000359042.2 + 3 864 c.670C>T c.(670-672)Cct>Tct p.P224S C17orf80_ENST00000426147.2_Missense_Mutation_p.P224S|C17orf80_ENST00000577615.1_Missense_Mutation_p.P224S|FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000535032.2_Missense_Mutation_p.P224S|C17orf80_ENST00000582793.1_Intron|C17orf80_ENST00000268942.8_Missense_Mutation_p.P224S|C17orf80_ENST00000255557.4_Missense_Mutation_p.P224S NM_017941.4 NP_060411 Q9BSJ5 CQ080_HUMAN chromosome 17 open reading frame 80 224 integral to membrane kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2) 14 LUSC - Lung squamous cell carcinoma(166;0.197) ACTAGATGTGCCTACTGGTGA 0.383 9 54 --- --- --- --- LONP1 9361 broad.mit.edu 37 19 5711843 5711843 + Missense_Mutation SNP A A C TCGA-KC-A7F3-01A-21D-A33T-08 TCGA-KC-A7F3-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcdd04ee-ff3e-4fa3-8115-4c94b0af9170 45a165ad-d560-4ed7-87ac-056436c3d192 g.chr19:5711843A>C ENST00000360614.3 - 4 966 c.809T>G c.(808-810)gTg>gGg p.V270G LONP1_ENST00000593119.1_Missense_Mutation_p.V206G|LONP1_ENST00000590729.1_Missense_Mutation_p.V156G|LONP1_ENST00000585374.1_Missense_Mutation_p.V156G|LONP1_ENST00000540670.2_Missense_Mutation_p.V74G NM_004793.2 NP_004784.2 P36776 LONM_HUMAN lon peptidase 1, mitochondrial 270 Lon. cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia mitochondrial nucleoid ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 CACCATGAGCACCTCAGCCGG 0.657 7 69 --- --- --- --- OR7D4 125958 broad.mit.edu 37 19 9325026 9325026 + Missense_Mutation SNP A A C TCGA-KC-A7F3-01A-21D-A33T-08 TCGA-KC-A7F3-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcdd04ee-ff3e-4fa3-8115-4c94b0af9170 45a165ad-d560-4ed7-87ac-056436c3d192 g.chr19:9325026A>C ENST00000308682.2 - 1 516 c.488T>G c.(487-489)aTg>aGg p.M163R NM_001005191.2 NP_001005191.1 Q8NG98 OR7D4_HUMAN olfactory receptor, family 7, subfamily D, member 4 163 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1) 26 CAACCTCTTCATCAGTAGAAT 0.512 20 52 --- --- --- --- NLRP5 126206 broad.mit.edu 37 19 56515211 56515211 + Silent SNP G G C TCGA-KC-A7F3-01A-21D-A33T-08 TCGA-KC-A7F3-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcdd04ee-ff3e-4fa3-8115-4c94b0af9170 45a165ad-d560-4ed7-87ac-056436c3d192 g.chr19:56515211G>C ENST00000390649.3 + 2 192 c.192G>C c.(190-192)ggG>ggC p.G64G NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 64 DAPIN. mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) CCAGCTACGGGCTGCAATGGT 0.428 17 67 --- --- --- --- MED12 9968 broad.mit.edu 37 X 70349258 70349258 + Missense_Mutation SNP C C T TCGA-KC-A7F3-01A-21D-A33T-08 TCGA-KC-A7F3-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcdd04ee-ff3e-4fa3-8115-4c94b0af9170 45a165ad-d560-4ed7-87ac-056436c3d192 g.chrX:70349258C>T ENST00000333646.6 + 26 3869 c.3670C>T c.(3670-3672)Ctc>Ttc p.L1224F MED12_ENST00000374102.1_Missense_Mutation_p.L1224F|MED12_ENST00000374080.3_Missense_Mutation_p.L1224F NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 1224 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding p.L1224F(10)|p.V1223>?(2)|p.L1224V(2) breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) GTTTGCTGTTCTCAAGGCTGT 0.562 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome OREG0019857 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 26 --- --- --- --- FAM107B 83641 broad.mit.edu 37 10 14563937 14563938 + Frame_Shift_Ins INS - - G TCGA-KC-A7F3-01A-21D-A33T-08 TCGA-KC-A7F3-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcdd04ee-ff3e-4fa3-8115-4c94b0af9170 45a165ad-d560-4ed7-87ac-056436c3d192 g.chr10:14563937_14563938insG ENST00000181796.2 - 4 967_968 c.734_735insC c.(733-735)gaafs p.E245fs FAM107B_ENST00000378467.4_Frame_Shift_Ins_p.E70fs|FAM107B_ENST00000478076.1_Frame_Shift_Ins_p.E70fs|FAM107B_ENST00000378465.3_Frame_Shift_Ins_p.E70fs|FAM107B_ENST00000479731.1_Frame_Shift_Ins_p.E70fs|FAM107B_ENST00000378458.2_Frame_Shift_Ins_p.E70fs|FAM107B_ENST00000378462.1_Frame_Shift_Ins_p.E70fs|FAM107B_ENST00000468747.1_Frame_Shift_Ins_p.E70fs|FAM107B_ENST00000496330.1_Frame_Shift_Ins_p.E70fs|FAM107B_ENST00000378470.1_Frame_Shift_Ins_p.E70fs NM_031453.2 NP_113641.2 Q9H098 F107B_HUMAN family with sequence similarity 107, member B 70 breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GTGCTTCTTCTTCCTTCTGCTT 0.426 25 73 --- --- --- --- ABCA10 10349 broad.mit.edu 37 17 67210954 67210959 + In_Frame_Del DEL AAAAAT AAAAAT - TCGA-KC-A7F3-01A-21D-A33T-08 TCGA-KC-A7F3-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcdd04ee-ff3e-4fa3-8115-4c94b0af9170 45a165ad-d560-4ed7-87ac-056436c3d192 g.chr17:67210954_67210959delAAAAAT ENST00000269081.4 - 10 1801_1806 c.892_897delATTTTT c.(892-897)atttttdel p.IF298del ABCA10_ENST00000416101.2_In_Frame_Del_p.IF298del|ABCA10_ENST00000432313.2_In_Frame_Del_p.IF298del NM_080282.3 NP_525021.3 Q8WWZ4 ABCAA_HUMAN ATP-binding cassette, sub-family A (ABC1), member 10 298 transport integral to membrane ATP binding|ATPase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 Breast(10;6.95e-12) AGGGATCAGGAAAAATAACACCACTT 0.267 11 57 --- --- --- ---