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 RP11-146E13.4 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A A G TCGA-P5-A737-01A-11D-A32B-08 TCGA-P5-A737-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 936493de-1bf3-4ba3-8fd1-3365e35605c8 732b972d-1257-41a8-905a-7407e4a36995 g.chr14:19857036A>G ENST00000548109.1 + 0 72 CTGGATAATAAAGTTCATCTC 0.373000 3 56 0 0 1 0 0 ZFYVE1 53349 broad.mit.edu 37 14 73491039 73491039 + Missense_Mutation SNP G G A TCGA-P5-A737-01A-11D-A32B-08 TCGA-P5-A737-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 936493de-1bf3-4ba3-8fd1-3365e35605c8 732b972d-1257-41a8-905a-7407e4a36995 g.chr14:73491039G>A ENST00000556143.1 - 2 898 c.178C>T c.(178-180)Cgg>Tgg p.R60W ZFYVE1_ENST00000318876.5_Missense_Mutation_p.R60W|ZFYVE1_ENST00000553891.1_Missense_Mutation_p.R60W NM_021260.2 NP_067083.1 Q9HBF4 ZFYV1_HUMAN zinc finger, FYVE domain containing 1 60 endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm 1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1) 35 all_lung(585;1.33e-09) OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349) AGTCTTATCCGCTCATGGTTT 0.547000 4 110 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48311922 48311922 + Missense_Mutation SNP A A G TCGA-P5-A737-01A-11D-A32B-08 TCGA-P5-A737-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 936493de-1bf3-4ba3-8fd1-3365e35605c8 732b972d-1257-41a8-905a-7407e4a36995 g.chr7:48311922A>G ENST00000435803.1 + 17 2683 c.2659A>G c.(2659-2661)Atg>Gtg p.M887V NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 887 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 ATCACCAGCTATGAACATAGA 0.353000 34 54 0 0 1 0 0 OCA2 4948 broad.mit.edu 37 15 28202829 28202829 + Silent SNP C C T TCGA-P5-A737-01A-11D-A32B-08 TCGA-P5-A737-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 936493de-1bf3-4ba3-8fd1-3365e35605c8 732b972d-1257-41a8-905a-7407e4a36995 g.chr15:28202829C>T ENST00000354638.3 - 16 1844 c.1689G>A c.(1687-1689)ccG>ccA p.P563P OCA2_ENST00000353809.5_Silent_p.P539P|OCA2_ENST00000382996.2_Silent_p.P563P NM_000275.2 NP_000266.2 Q04671 P_HUMAN oculocutaneous albinism II 563 eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) CGCGGCTGGCCGGGCTGATGC 0.632000 Oculocutaneous Albinism 5 38 0 0 1 0 0 MAST4 375449 broad.mit.edu 37 5 66055567 66055567 + Missense_Mutation SNP C C T TCGA-P5-A737-01A-11D-A32B-08 TCGA-P5-A737-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 936493de-1bf3-4ba3-8fd1-3365e35605c8 732b972d-1257-41a8-905a-7407e4a36995 g.chr5:66055567C>T ENST00000404260.3 + 2 702 c.394C>T c.(394-396)Ccg>Tcg p.P132S MAST4_ENST00000406374.1_Missense_Mutation_p.P132S|MAST4_ENST00000406039.1_Missense_Mutation_p.P132S|MAST4_ENST00000403625.2_Missense_Mutation_p.P132S|MAST4_ENST00000478569.1_3'UTR O15021 MAST4_HUMAN microtubule associated serine/threonine kinase family member 4 132 cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) TCCACCCATGCCGTTTCGGAA 0.488000 3 36 0 0 1 0 0 PRTG 283659 broad.mit.edu 37 15 55916585 55916585 + Silent SNP T T C TCGA-P5-A737-01A-11D-A32B-08 TCGA-P5-A737-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 936493de-1bf3-4ba3-8fd1-3365e35605c8 732b972d-1257-41a8-905a-7407e4a36995 g.chr15:55916585T>C ENST00000389286.4 - 18 3095 c.3048A>G c.(3046-3048)gaA>gaG p.E1016E NM_173814.4 NP_776175.2 Q2VWP7 PRTG_HUMAN protogenin 1016 multicellular organismal development integral to membrane breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 41 all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135) GCATTAAAGATTCTTCATTTC 0.473000 3 84 0 0 1 0 0 MOV10L1 54456 broad.mit.edu 37 22 50591600 50591600 + Missense_Mutation SNP G G C TCGA-P5-A737-01A-11D-A32B-08 TCGA-P5-A737-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 936493de-1bf3-4ba3-8fd1-3365e35605c8 732b972d-1257-41a8-905a-7407e4a36995 g.chr22:50591600G>C ENST00000262794.5 + 22 3102 c.3019G>C c.(3019-3021)Gag>Cag p.E1007Q MOV10L1_ENST00000354853.2_Missense_Mutation_p.E50Q|MOV10L1_ENST00000395852.1_Missense_Mutation_p.E134Q|MOV10L1_ENST00000395843.1_Missense_Mutation_p.E50Q|MOV10L1_ENST00000395858.3_Missense_Mutation_p.E1007Q|MOV10L1_ENST00000545383.1_Missense_Mutation_p.E1007Q|MOV10L1_ENST00000540615.1_Missense_Mutation_p.E987Q NM_018995.2 NP_061868.1 Q9BXT6 M10L1_HUMAN Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) 1007 germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3) 67 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24) GCTGGGCTGGGAGAAGTTGCC 0.587000 46 42 0 0 1 0 0 SZT2 23334 broad.mit.edu 37 1 43904411 43904411 + Missense_Mutation SNP C C T TCGA-P5-A737-01A-11D-A32B-08 TCGA-P5-A737-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 936493de-1bf3-4ba3-8fd1-3365e35605c8 732b972d-1257-41a8-905a-7407e4a36995 g.chr1:43904411C>T ENST00000562955.1 + 46 6379 c.6379C>T c.(6379-6381)Cgc>Tgc p.R2127C SZT2_ENST00000471177.1_3'UTR|SZT2_ENST00000372442.1_Missense_Mutation_p.R1285C NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 2184 peroxisome p.R1285C(2)|p.R2127C(1) NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 TCTATGTCGGCGCCTGGATGA 0.572000 16 4 0 0 1 0 0 ZNF721 170960 broad.mit.edu 37 4 436239 436239 + Missense_Mutation SNP C C T TCGA-P5-A737-01A-11D-A32B-08 TCGA-P5-A737-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 936493de-1bf3-4ba3-8fd1-3365e35605c8 732b972d-1257-41a8-905a-7407e4a36995 g.chr4:436239C>T ENST00000338977.5 - 2 2029 c.1981G>A c.(1981-1983)Gag>Aag p.E661K ZNF721_ENST00000511833.2_Missense_Mutation_p.E673K|ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000506646.1_Intron|ABCA11P_ENST00000451020.2_RNA zinc finger protein 721 endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1) 33 TTGCCACACTCTTCACATTTG 0.418000 4 100 0 0 1 0 0 WDR38 401551 broad.mit.edu 37 9 127618017 127618017 + Missense_Mutation SNP C C T TCGA-P5-A737-01A-11D-A32B-08 TCGA-P5-A737-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 936493de-1bf3-4ba3-8fd1-3365e35605c8 732b972d-1257-41a8-905a-7407e4a36995 g.chr9:127618017C>T ENST00000373574.1 + 3 351 c.295C>T c.(295-297)Cgg>Tgg p.R99W NM_001045476.1|NM_001276374.1 NP_001038941.1|NP_001263303.1 Q5JTN6 WDR38_HUMAN WD repeat domain 38 99 breast(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1) 8 GAAGTGTCTGCGGGTCCTGAA 0.617000 OREG0019485 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 87 0 0 1 0 0 GIF 2694 broad.mit.edu 37 11 59612897 59612897 + Silent SNP G G A TCGA-P5-A737-01A-11D-A32B-08 TCGA-P5-A737-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 936493de-1bf3-4ba3-8fd1-3365e35605c8 732b972d-1257-41a8-905a-7407e4a36995 g.chr11:59612897G>A ENST00000257248.2 - 1 77 c.30C>T c.(28-30)agC>agT p.S10S GIF_ENST00000541311.1_5'UTR NM_005142.2 NP_005133.2 P27352 IF_HUMAN gastric intrinsic factor (vitamin B synthesis) 10 cobalamin metabolic process|cobalamin transport|cobalt ion transport apical plasma membrane|endosome|extracellular space|microvillus cobalamin binding large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 17 CCCAGAGAAGGCTCAGGAGGT 0.512000 14 97 0 0 1 0 0 PLXNA3 55558 broad.mit.edu 37 X 153697253 153697253 + Missense_Mutation SNP G G A TCGA-P5-A737-01A-11D-A32B-08 TCGA-P5-A737-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 936493de-1bf3-4ba3-8fd1-3365e35605c8 732b972d-1257-41a8-905a-7407e4a36995 g.chrX:153697253G>A ENST00000369682.3 + 25 4550 c.4375G>A c.(4375-4377)Gca>Aca p.A1459T NM_017514.3 NP_059984.2 P51805 PLXA3_HUMAN plexin A3 1459 axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 48 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CACGGGCGAGGCACGATACTC 0.617000 3 41 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-P5-A737-01A-11D-A32B-08 TCGA-P5-A737-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 936493de-1bf3-4ba3-8fd1-3365e35605c8 732b972d-1257-41a8-905a-7407e4a36995 g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q Q96L91 EP400_HUMAN E1A binding protein p400 2761 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2724Q(16)|p.Q2725Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcagcaacaacagc 0.562000 3 30 0 0 1 0 0 FSIP2 401024 broad.mit.edu 37 2 186673362 186673362 + Missense_Mutation SNP A A G TCGA-P5-A737-01A-11D-A32B-08 TCGA-P5-A737-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 936493de-1bf3-4ba3-8fd1-3365e35605c8 732b972d-1257-41a8-905a-7407e4a36995 g.chr2:186673362A>G ENST00000343098.5 + 17 19596 c.19596A>G c.(19594-19596)atA>atG p.I6532M FSIP2_ENST00000424728.1_Missense_Mutation_p.I6443M NM_173651.2 NP_775922.2 fibrous sheath interacting protein 2 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 ATTATGATATAAAAGATACAA 0.289000 23 18 0 0 1 0 0 OR13C5 138799 broad.mit.edu 37 9 107361002 107361002 + Silent SNP C C T rs78992791 byFrequency TCGA-P5-A737-01A-11D-A32B-08 TCGA-P5-A737-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 936493de-1bf3-4ba3-8fd1-3365e35605c8 732b972d-1257-41a8-905a-7407e4a36995 g.chr9:107361002C>T ENST00000374779.2 - 1 786 c.693G>A c.(691-693)tcG>tcA p.S231S NM_001004482.1 NP_001004482.1 Q8NGS8 O13C5_HUMAN olfactory receptor, family 13, subfamily C, member 5 231 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4) 28 TTCTCCCCTCCGAAGAGCTAA 0.428000 40 63 0 0 1 0 0 PHIP 55023 broad.mit.edu 37 6 79770432 79770432 + Missense_Mutation SNP T T G TCGA-P5-A737-01A-11D-A32B-08 TCGA-P5-A737-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 936493de-1bf3-4ba3-8fd1-3365e35605c8 732b972d-1257-41a8-905a-7407e4a36995 g.chr6:79770432T>G ENST00000275034.4 - 5 460 c.293A>C c.(292-294)cAa>cCa p.Q98P NM_017934.5 NP_060404.3 Q8WWQ0 PHIP_HUMAN pleckstrin homology domain interacting protein 98 insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis nucleus insulin receptor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 68 all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219) BRCA - Breast invasive adenocarcinoma(397;0.231) TAATAAAGTTTGTACTCCAGG 0.343000 12 30 0 0 1 0 0 TTC23 64927 broad.mit.edu 37 15 99678297 99678297 + Nonsense_Mutation SNP G G C TCGA-P5-A737-01A-11D-A32B-08 TCGA-P5-A737-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 936493de-1bf3-4ba3-8fd1-3365e35605c8 732b972d-1257-41a8-905a-7407e4a36995 g.chr15:99678297G>C ENST00000394132.2 - 14 2079 c.1262C>G c.(1261-1263)tCa>tGa p.S421* TTC23_ENST00000394135.3_Nonsense_Mutation_p.S421*|TTC23_ENST00000394136.1_Nonsense_Mutation_p.S421*|TTC23_ENST00000262074.4_Nonsense_Mutation_p.S421*|TTC23_ENST00000558613.1_Nonsense_Mutation_p.S421*|TTC23_ENST00000558663.1_Nonsense_Mutation_p.S421* Q5W5X9 TTC23_HUMAN tetratricopeptide repeat domain 23 421 binding endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2) 16 all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215) TTTGGCTTTTGATGCCTGCCT 0.637000 19 19 0 0 1 0 0 SS18L2 51188 broad.mit.edu 37 3 42632448 42632448 + Missense_Mutation SNP C C T TCGA-P5-A737-01A-11D-A32B-08 TCGA-P5-A737-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 936493de-1bf3-4ba3-8fd1-3365e35605c8 732b972d-1257-41a8-905a-7407e4a36995 g.chr3:42632448C>T ENST00000447630.1 + 2 267 c.59C>T c.(58-60)aCt>aTt p.T20I SEC22C_ENST00000417572.1_Intron|SS18L2_ENST00000011691.4_Missense_Mutation_p.T20I Q9UHA2 S18L2_HUMAN synovial sarcoma translocation gene on chromosome 18-like 2 20 prostate(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.214) AATCAAGAGACTATCCAGCGG 0.667000 24 39 0 0 1 0 0 XCL2 6846 broad.mit.edu 37 1 168510202 168510202 + Silent SNP G G A rs149372418 byFrequency TCGA-P5-A737-01A-11D-A32B-08 TCGA-P5-A737-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 936493de-1bf3-4ba3-8fd1-3365e35605c8 732b972d-1257-41a8-905a-7407e4a36995 g.chr1:168510202G>A ENST00000367819.2 - 3 365 c.333C>T c.(331-333)acC>acT p.T111T NM_003175.3 NP_003166.1 Q9UBD3 XCL2_HUMAN chemokine (C motif) ligand 2 111 blood circulation|chemotaxis|immune response|signal transduction extracellular space chemokine activity p.T111T(1) large_intestine(1)|lung(6)|ovary(1) 8 all_hematologic(923;0.215) AGCCAGTCAGGGTCACAGCTG 0.498000 5 39 0 0 1 0 0 SLC34A2 10568 broad.mit.edu 37 4 25678090 25678090 + Missense_Mutation SNP C C T TCGA-P5-A737-01A-11D-A32B-08 TCGA-P5-A737-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 936493de-1bf3-4ba3-8fd1-3365e35605c8 732b972d-1257-41a8-905a-7407e4a36995 g.chr4:25678090C>T ENST00000382051.3 + 13 1842 c.1792C>T c.(1792-1794)Cgc>Tgc p.R598C SLC34A2_ENST00000503434.1_Missense_Mutation_p.R597C|SLC34A2_ENST00000504570.1_Missense_Mutation_p.R597C NM_001177998.1|NM_006424.2 NP_001171469.1|NP_006415.2 O95436 NPT2B_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 2 598 cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity p.R598C(1) SLC34A2/ROS1(14) breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4) 41 Breast(46;0.0503) GCTGTGGATGCGCTCGCTGAA 0.632000 T ROS1 NSCLC 4 69 0 0 1 0 0 SLC38A2 54407 broad.mit.edu 37 12 46758436 46758436 + Silent SNP A A G TCGA-P5-A737-01A-11D-A32B-08 TCGA-P5-A737-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 936493de-1bf3-4ba3-8fd1-3365e35605c8 732b972d-1257-41a8-905a-7407e4a36995 g.chr12:46758436A>G ENST00000256689.5 - 9 1140 c.696T>C c.(694-696)ttT>ttC p.F232F SLC38A2_ENST00000547252.1_5'UTR|SLC38A2_ENST00000551374.1_Silent_p.F70F NM_018976.4 NP_061849.2 Q96QD8 S38A2_HUMAN solute carrier family 38, member 2 232 cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 18 Lung SC(27;0.192)|Renal(347;0.236) OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374) GBM - Glioblastoma multiforme(48;0.226) CCACAATCAGAAAGAACACCA 0.328000 22 29 0 0 1 0 0 KPRP 448834 broad.mit.edu 37 1 152732999 152732999 + Missense_Mutation SNP G G A TCGA-P5-A737-01A-11D-A32B-08 TCGA-P5-A737-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 936493de-1bf3-4ba3-8fd1-3365e35605c8 732b972d-1257-41a8-905a-7407e4a36995 g.chr1:152732999G>A ENST00000368773.1 + 2 993 c.935G>A c.(934-936)cGc>cAc p.R312H KPRP_ENST00000606109.1_Missense_Mutation_p.R312H NM_001025231.1 NP_001020402.1 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 312 Pro-rich. cytoplasm NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) TGTCCTCGCCGCCCCATTTCA 0.592000 3 52 0 0 1 0 0 HIST1H1T 3010 broad.mit.edu 37 6 26107808 26107808 + Missense_Mutation SNP C C T TCGA-P5-A737-01A-11D-A32B-08 TCGA-P5-A737-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 936493de-1bf3-4ba3-8fd1-3365e35605c8 732b972d-1257-41a8-905a-7407e4a36995 g.chr6:26107808C>T ENST00000338379.4 - 1 556 c.514G>A c.(514-516)Gga>Aga p.G172R NM_005323.3 NP_005314.2 P22492 H1T_HUMAN histone cluster 1, H1t 172 cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis nucleosome DNA binding breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1) 9 CCCTTGGCTCCTTTAGCCTTT 0.478000 32 58 0 0 1 0 0 DHRS9 10170 broad.mit.edu 37 2 169939889 169939889 + Missense_Mutation SNP A A C TCGA-P5-A737-01A-11D-A32B-08 TCGA-P5-A737-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 936493de-1bf3-4ba3-8fd1-3365e35605c8 732b972d-1257-41a8-905a-7407e4a36995 g.chr2:169939889A>C ENST00000327239.4 + 6 1868 c.364A>C c.(364-366)Act>Cct p.T122P DHRS9_ENST00000412271.1_Missense_Mutation_p.T122P|DHRS9_ENST00000602501.1_Missense_Mutation_p.T122P|DHRS9_ENST00000436483.2_Missense_Mutation_p.T122P|DHRS9_ENST00000432060.2_Missense_Mutation_p.T182P|DHRS9_ENST00000421653.1_5'UTR|DHRS9_ENST00000357546.2_Missense_Mutation_p.T122P|DHRS9_ENST00000428522.1_Missense_Mutation_p.T122P NM_005771.4 NP_005762.2 Q9BPW9 DHRS9_HUMAN dehydrogenase/reductase (SDR family) member 9 122 9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process integral to endoplasmic reticulum membrane|microsome alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 13 GCTGGCTCCCACTGACTGGCT 0.473000 42 31 0 0 1 0 0 ZNF333 84449 broad.mit.edu 37 19 14830055 14830055 + Missense_Mutation SNP C C G TCGA-P5-A737-01A-11D-A32B-08 TCGA-P5-A737-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 936493de-1bf3-4ba3-8fd1-3365e35605c8 732b972d-1257-41a8-905a-7407e4a36995 g.chr19:14830055C>G ENST00000292530.6 + 12 2007 c.1916C>G c.(1915-1917)aCc>aGc p.T639S ZNF333_ENST00000540689.2_Intron|ZNF333_ENST00000536363.1_Missense_Mutation_p.T530S NM_032433.2 NP_115809.1 Q96JL9 ZN333_HUMAN zinc finger protein 333 639 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1) 21 CACAAAAGAACCCATGTGGGA 0.453000 7 67 0 0 1 0 0 NLRC3 197358 broad.mit.edu 37 16 3606946 3606946 + RNA SNP C C T TCGA-P5-A737-01A-11D-A32B-08 TCGA-P5-A737-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 936493de-1bf3-4ba3-8fd1-3365e35605c8 732b972d-1257-41a8-905a-7407e4a36995 g.chr16:3606946C>T ENST00000301749.7 - 0 2554 NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000603507.1_RNA NM_178844.2 NP_849172.2 Q7RTR2 NLRC3_HUMAN NLR family, CARD domain containing 3 I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation cytoplasm ATP binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 ATCTTCAAAGCGTCTGCCAGC 0.582000 11 10 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628300 29628300 + Missense_Mutation SNP G G A TCGA-P5-A737-01A-11D-A32B-08 TCGA-P5-A737-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 936493de-1bf3-4ba3-8fd1-3365e35605c8 732b972d-1257-41a8-905a-7407e4a36995 g.chr20:29628300G>A ENST00000278882.3 + 6 682 c.302G>A c.(301-303)aGt>aAt p.S101N FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N p.S101N(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GAAGCAAAAAGTAAAACAGCA 0.358000 4 80 0 0 1 0 0 KIAA1211 57482 broad.mit.edu 37 4 57179385 57179385 + Missense_Mutation SNP G G A TCGA-P5-A737-01A-11D-A32B-08 TCGA-P5-A737-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 936493de-1bf3-4ba3-8fd1-3365e35605c8 732b972d-1257-41a8-905a-7407e4a36995 g.chr4:57179385G>A ENST00000504228.1 + 5 482 c.377G>A c.(376-378)cGg>cAg p.R126Q KIAA1211_ENST00000541073.1_Missense_Mutation_p.R119Q|KIAA1211_ENST00000264229.6_Missense_Mutation_p.R126Q Q6ZU35 K1211_HUMAN KIAA1211 126 endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1) 65 Glioma(25;0.08)|all_neural(26;0.101) AAACCGTCTCGGCCAAAAAGG 0.537000 10 100 0 0 1 0 0 HDHD3 81932 broad.mit.edu 37 9 116136675 116136675 + Translation_Start_Site SNP C C T TCGA-P5-A737-01A-11D-A32B-08 TCGA-P5-A737-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 936493de-1bf3-4ba3-8fd1-3365e35605c8 732b972d-1257-41a8-905a-7407e4a36995 g.chr9:116136675C>T ENST00000238379.5 - 0 857 HDHD3_ENST00000374180.3_De_novo_Start_OutOfFrame|HDHD3_ENST00000485934.1_5'UTR NM_031219.2 NP_112496.1 Q9BSH5 HDHD3_HUMAN haloacid dehalogenase-like hydrolase domain containing 3 phosphoglycolate phosphatase activity|protein binding large_intestine(2)|liver(1) 3 TCAGGTCCCACGGTGGGTCCC 0.587000 5 9 0 0 1 0 0 OR4C15 81309 broad.mit.edu 37 11 55322861 55322861 + Missense_Mutation SNP T T C TCGA-P5-A737-01A-11D-A32B-08 TCGA-P5-A737-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 936493de-1bf3-4ba3-8fd1-3365e35605c8 732b972d-1257-41a8-905a-7407e4a36995 g.chr11:55322861T>C ENST00000314644.2 + 1 1079 c.1079T>C c.(1078-1080)gTg>gCg p.V360A NM_001001920.1 NP_001001920.1 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, member 15 306 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5) 56 AGACTGATGGTGGTTTCTGAT 0.303000 HNSCC(20;0.049) 4 66 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-P5-A737-01A-11D-A32B-08 TCGA-P5-A737-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 936493de-1bf3-4ba3-8fd1-3365e35605c8 732b972d-1257-41a8-905a-7407e4a36995 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 23 16 0 0 1 0 0 OR14I1 401994 broad.mit.edu 37 1 248844917 248844917 + Missense_Mutation SNP T T C TCGA-P5-A737-01A-11D-A32B-08 TCGA-P5-A737-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 936493de-1bf3-4ba3-8fd1-3365e35605c8 732b972d-1257-41a8-905a-7407e4a36995 g.chr1:248844917T>C ENST00000342623.3 - 1 712 c.689A>G c.(688-690)cAg>cGg p.Q230R NM_001004734.1 NP_001004734.1 A6ND48 O14I1_HUMAN olfactory receptor, family 14, subfamily I, member 1 230 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 35 TGCTCGACTCTGTCCTGAAGG 0.493000 5 63 0 0 1 0 0 AHDC1 27245 broad.mit.edu 37 1 27875316 27875316 + Missense_Mutation SNP C C T TCGA-P5-A737-01A-11D-A32B-08 TCGA-P5-A737-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 936493de-1bf3-4ba3-8fd1-3365e35605c8 732b972d-1257-41a8-905a-7407e4a36995 g.chr1:27875316C>T ENST00000374011.2 - 6 4279 c.3311G>A c.(3310-3312)gGg>gAg p.G1104E AHDC1_ENST00000482400.2_Intron|AHDC1_ENST00000247087.5_Missense_Mutation_p.G1104E NM_001029882.2 NP_001025053.1 Q5TGY3 AHDC1_HUMAN AT hook, DNA binding motif, containing 1 1104 DNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291) CTGAGAAGCCCCCGCAAACTG 0.637000 5 39 0 0 1 0 0 LIPE-AS1 0 broad.mit.edu 37 19 43009588 43009589 + RNA INS - - T TCGA-P5-A737-01A-11D-A32B-08 TCGA-P5-A737-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 936493de-1bf3-4ba3-8fd1-3365e35605c8 732b972d-1257-41a8-905a-7407e4a36995 g.chr19:43009588_43009589insT ENST00000594688.1 + 0 1450 LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000594624.2_RNA NR_073179.1 GAAGAAACttcttttttttctt 0.455 2 4 --- --- --- --- ZNF444 55311 broad.mit.edu 37 19 56658436 56658436 + Frame_Shift_Del DEL G G - TCGA-P5-A737-01A-11D-A32B-08 TCGA-P5-A737-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 936493de-1bf3-4ba3-8fd1-3365e35605c8 732b972d-1257-41a8-905a-7407e4a36995 g.chr19:56658436delG ENST00000337080.3 + 3 523 c.156delG c.(154-156)gafs p.E52fs ZNF444_ENST00000592949.1_Frame_Shift_Del_p.E52fs NM_001253792.1|NM_018337.3 NP_001240721.1|NP_060807.2 Q8N0Y2 ZN444_HUMAN zinc finger protein 444 52 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(1)|lung(5) 7 Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0531) TGCGGCCCGAGGTGCACACCA 0.746 2 4 --- --- --- ---